#ChrPositiondbSNPRefAltGeneChangetypeMolecular_ConsequenceClinVar_IDMutationInEastAsiadisease
1921974705rs373407950(chr9-21974705-GtoT)GTCDKN2ACDKN2A:NM_000077.4:exon1:c.C122A:p.P41Q
CDKN2A:NM_001195132.1:exon1:c.C122A:p.P41Q
CDKN2A:NM_058197.4:exon1:c.C122A:p.P41Q
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
1411114Hereditary_cancer-predisposing_syndrome
Hereditary_cutaneous_melanoma
29135772897rs1374339026(chr9-135772897-AtoG)AGTSC1TSC1:NM_001162427.2:exon20:c.T2573C:p.I858T
TSC1:NM_001362177.2:exon20:c.T2363C:p.I788T
TSC1:NM_000368.4:exon21:c.T2726C:p.I909T
TSC1:NM_001162426.2:exon21:c.T2723C:p.I908T
nonsynonymous SNV'-'-2.
3586564637rs779313090(chr5-86564637-GtoC)GCRASA1RASA1:NM_002890.3:exon1:c.G369C:p.L123Fnonsynonymous SNV'-'-2.
45149459663rs753500118(chr5-149459663-CtoA)CACSF1RCSF1R:NM_001288705.2:exon3:c.G544T:p.G182C
CSF1R:NM_005211.3:exon4:c.G544T:p.G182C
CSF1R:NM_001349736.1:exon5:c.G544T:p.G182C
nonsynonymous SNV'-'-3.
55131931460rs587781454(chr5-131931460--toT)'-TRAD50RAD50:NM_005732.4:exon13:c.2165_2166insT:p.K722fsframeshift insertion'-'-1Hereditary_cancer-predisposing_syndrome
6480905985rs312262690(chr4-80905985--toG)'-GANTXR2ANTXR2:NM_001145794.1:exon13:c.1073dupC:p.P358fs
ANTXR2:NM_001286780.2:exon13:c.842dupC:p.P281fs
ANTXR2:NM_001286781.2:exon13:c.842dupC:p.P281fs
ANTXR2:NM_058172.6:exon13:c.1073dupC:p.P358fs
frameshift insertion'-'-1Hyaline_fibromatosis_syndrome
7349398430rs1310116062(chr3-49398430-TtoC)TCRHOARHOA:NM_001313943.2:exon5:c.A478G:p.R160Gnonsynonymous SNV'-'-8.
8337070411rs1553653195(chr3-37070411-CtoT)CTMLH1MLH1:NM_001354625.1:exon10:c.C472T:p.Q158X
MLH1:NM_001354621.1:exon11:c.C523T:p.Q175X
MLH1:NM_001354623.1:exon11:c.C523T:p.Q175X
MLH1:NM_001354624.1:exon11:c.C472T:p.Q158X
MLH1:NM_001354626.1:exon11:c.C472T:p.Q158X
MLH1:NM_001354627.1:exon11:c.C472T:p.Q158X
MLH1:NM_001167619.2:exon12:c.C823T:p.Q275X
MLH1:NM_001258273.1:exon12:c.C823T:p.Q275X
MLH1:NM_001354615.1:exon12:c.C823T:p.Q275X
MLH1:NM_001354616.1:exon12:c.C823T:p.Q275X
MLH1:NM_001354622.1:exon12:c.C523T:p.Q175X
MLH1:NM_001354629.1:exon12:c.C1447T:p.Q483X
MLH1:NM_000249.3:exon13:c.C1546T:p.Q516X
MLH1:NM_001167617.2:exon13:c.C1252T:p.Q418X
MLH1:NM_001167618.2:exon13:c.C823T:p.Q275X
MLH1:NM_001258271.1:exon13:c.C1546T:p.Q516X
MLH1:NM_001354617.1:exon13:c.C823T:p.Q275X
MLH1:NM_001354618.1:exon13:c.C823T:p.Q275X
MLH1:NM_001354620.1:exon13:c.C1252T:p.Q418X
MLH1:NM_001354628.1:exon13:c.C1546T:p.Q516X
MLH1:NM_001354630.1:exon13:c.C1546T:p.Q516X
MLH1:NM_001258274.2:exon14:c.C823T:p.Q275X
MLH1:NM_001354619.1:exon14:c.C823T:p.Q275X
stopgainSO:0001587|nonsense5459571not_provided
9337035085rs1553637237(chr3-37035085-TtoG)TGMLH1MLH1:NM_000249.3:exon1:c.T47G:p.V16G
MLH1:NM_001258271.1:exon1:c.T47G:p.V16G
MLH1:NM_001354628.1:exon1:c.T47G:p.V16G
MLH1:NM_001354629.1:exon1:c.T47G:p.V16G
MLH1:NM_001354630.1:exon1:c.T47G:p.V16G
nonsynonymous SNVSO:0001583|missense_variant4490591Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
not_specified
103127335872rs767499238(chr3-127335872-CtoT)CTMCM2MCM2:NM_004526.4:exon10:c.C1684T:p.R562Wnonsynonymous SNV'-'-2.
113127325529rs558806976(chr3-127325529-AtoC)ACMCM2MCM2:NM_004526.4:exon6:c.A970C:p.M324Lnonsynonymous SNV'-'-4.
123127325511rs772439652(chr3-127325511-GtoA)GAMCM2MCM2:NM_004526.4:exon6:c.G952A:p.V318Inonsynonymous SNV'-'-2.
13247600986rs749805135(chr2-47600986-GtoA)GAEPCAMEPCAM:NM_002354.2:exon3:c.G224A:p.G75Dnonsynonymous SNV'-'-2.
14239249895rs753055115(chr2-39249895-CtoT)CTSOS1SOS1:NM_005633.3:exon10:c.G1674A:p.M558Inonsynonymous SNV'-'-2.
15229416359rs563126725(chr2-29416359-TtoC)TCALKALK:NM_001353765.1:exon10:c.A1390G:p.N464D
ALK:NM_004304.5:exon29:c.A4594G:p.N1532D
nonsynonymous SNV'-'-3.
16225523073rs779208522(chr2-25523073-GtoA)GADNMT3ADNMT3A:NM_001320892.2:exon3:c.C112T:p.R38C
DNMT3A:NM_022552.4:exon3:c.C112T:p.R38C
DNMT3A:NM_175629.2:exon3:c.C112T:p.R38C
DNMT3A:NM_175630.1:exon3:c.C112T:p.R38C
nonsynonymous SNV'-'-1.
172209113113rs121913499(chr2-209113113-GtoA)GAIDH1IDH1:NM_001282386.1:exon4:c.C394T:p.R132C
IDH1:NM_001282387.1:exon4:c.C394T:p.R132C
IDH1:NM_005896.3:exon4:c.C394T:p.R132C
nonsynonymous SNVSO:0001583|missense_variant3758911Hepatocellular_carcinoma
Medulloblastoma
Acute_myeloid_leukemia
Transitional_cell_carcinoma_of_the_bladder
Multiple_myeloma
Astrocytoma
Brainstem_glioma
Lung_adenocarcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Neoplasm_of_the_large_intestine
Malignant_melanoma_of_skin
Adenoid_cystic_carcinoma
Glioblastoma
Myelodysplastic_syndrome
Adenocarcinoma_of_prostate
182209113112rs121913500(chr2-209113112-CtoT)CTIDH1IDH1:NM_001282386.1:exon4:c.G395A:p.R132H
IDH1:NM_001282387.1:exon4:c.G395A:p.R132H
IDH1:NM_005896.3:exon4:c.G395A:p.R132H
nonsynonymous SNVSO:0001583|missense_variant1564441Hepatocellular_carcinoma
Medulloblastoma
Acute_myeloid_leukemia
Transitional_cell_carcinoma_of_the_bladder
Multiple_myeloma
Astrocytoma
Brainstem_glioma
Lung_adenocarcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Neoplasm_of_the_large_intestine
Malignant_melanoma_of_skin
Adenoid_cystic_carcinoma
Glioblastoma
Myelodysplastic_syndrome
Oligodendroglioma
Adenocarcinoma_of_prostate
Glioblastoma_multiforme,_somatic
192178096552rs776472261(chr2-178096552-GtoC)GCNFE2L2NFE2L2:NM_001313902.1:exon4:c.C689G:p.T230R
NFE2L2:NM_001145412.3:exon5:c.C731G:p.T244R
NFE2L2:NM_001145413.3:exon5:c.C710G:p.T237R
NFE2L2:NM_001313900.1:exon5:c.C731G:p.T244R
NFE2L2:NM_001313901.1:exon5:c.C731G:p.T244R
NFE2L2:NM_001313903.1:exon5:c.C560G:p.T187R
NFE2L2:NM_001313904.1:exon5:c.C479G:p.T160R
NFE2L2:NM_006164.5:exon5:c.C779G:p.T260R
nonsynonymous SNV'-'-4.
201917954586rs774202259(chr19-17954586-CtoT)CTJAK3JAK3:NM_000215.3:exon3:c.G308A:p.R103Hnonsynonymous SNVSO:0001583|missense_variant1911021not_provided
211915297997rs754554486(chr19-15297997-GtoA)GANOTCH3NOTCH3:NM_000435.3:exon11:c.C1759T:p.R587Cnonsynonymous SNV'-'-2.
221915276717rs756939819(chr19-15276717-CtoT)CTNOTCH3NOTCH3:NM_000435.3:exon30:c.G5548A:p.A1850Tnonsynonymous SNV'-'-3.
231915271819rs765739997(chr19-15271819-CtoT)CTNOTCH3NOTCH3:NM_000435.3:exon33:c.G6620A:p.R2207Qnonsynonymous SNV'-'-2.
241741226380rs273900737(chr17-41226380-GtoA)GABRCA1BRCA1:NM_007297.4:exon13:c.C4502T:p.T1501M
BRCA1:NM_007298.3:exon13:c.C1331T:p.T444M
BRCA1:NM_007294.3:exon14:c.C4643T:p.T1548M
BRCA1:NM_007299.4:exon14:c.C1331T:p.T444M
BRCA1:NM_007300.4:exon15:c.C4706T:p.T1569M
nonsynonymous SNVSO:0001583|missense_variant552491Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
251741219627rs80357034(chr17-41219627-GtoT)GTBRCA1BRCA1:NM_007297.4:exon15:c.C4931A:p.T1644K
BRCA1:NM_007298.3:exon15:c.C1760A:p.T587K
BRCA1:NM_007294.3:exon16:c.C5072A:p.T1691K
BRCA1:NM_007299.4:exon16:c.C1760A:p.T587K
BRCA1:NM_007300.4:exon17:c.C5135A:p.T1712K
nonsynonymous SNVSO:0001583|missense_variant376271Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
261623647548rs752251774(chr16-23647548-AtoT)ATPALB2PALB2:NM_024675.3:exon4:c.T319A:p.F107Inonsynonymous SNVSO:0001583|missense_variant4609791Familial_cancer_of_breast
271623647430.(chr16-23647430-CtoT)CTPALB2PALB2:NM_024675.3:exon4:c.G437A:p.R146Knonsynonymous SNV'-'-1.
28145798452rs1553128813(chr1-45798452-GtoA)GAMUTYHMUTYH:NM_001350650.1:exon6:c.C130T:p.Q44X
MUTYH:NM_001350651.1:exon6:c.C130T:p.Q44X
MUTYH:NM_001048171.1:exon7:c.C517T:p.Q173X
MUTYH:NM_001048172.1:exon7:c.C478T:p.Q160X
MUTYH:NM_001048173.1:exon7:c.C475T:p.Q159X
MUTYH:NM_001048174.1:exon7:c.C475T:p.Q159X
MUTYH:NM_001128425.1:exon7:c.C559T:p.Q187X
MUTYH:NM_001293190.1:exon7:c.C520T:p.Q174X
MUTYH:NM_001293191.1:exon7:c.C508T:p.Q170X
MUTYH:NM_001293192.1:exon7:c.C199T:p.Q67X
MUTYH:NM_001293196.1:exon7:c.C199T:p.Q67X
MUTYH:NM_012222.2:exon7:c.C550T:p.Q184X
MUTYH:NM_001293195.1:exon8:c.C475T:p.Q159X
stopgainSO:0001587|nonsense5540171MYH-associated_polyposis
29145796895rs376790729(chr1-45796895-CtoA)CAMUTYHMUTYH:NM_001350650.1:exon13:c.G1006T:p.E336X
MUTYH:NM_001350651.1:exon13:c.G1006T:p.E336X
MUTYH:NM_001048171.1:exon14:c.G1393T:p.E465X
MUTYH:NM_001048172.1:exon14:c.G1354T:p.E452X
MUTYH:NM_001048173.1:exon14:c.G1351T:p.E451X
MUTYH:NM_001048174.1:exon14:c.G1351T:p.E451X
MUTYH:NM_001128425.1:exon14:c.G1435T:p.E479X
MUTYH:NM_001293190.1:exon14:c.G1396T:p.E466X
MUTYH:NM_001293191.1:exon14:c.G1384T:p.E462X
MUTYH:NM_001293192.1:exon14:c.G1075T:p.E359X
MUTYH:NM_001293196.1:exon14:c.G1075T:p.E359X
MUTYH:NM_012222.2:exon14:c.G1426T:p.E476X
MUTYH:NM_001293195.1:exon15:c.G1351T:p.E451X
stopgainSO:0001587|nonsense2383371Hereditary_cancer-predisposing_syndrome
MYH-associated_polyposis
MUTYH-associated_polyposis
not_provided
301332972904.(chr13-32972904-CtoCT)CCTBRCA2BRCA2:NM_000059.3:exon27:c.10254delinsCTframeshift substitution'-'-1.
311332954037rs80359165(chr13-32954037-AtoC)ACBRCA2BRCA2:NM_000059.3:exon23:c.A9104C:p.Y3035Snonsynonymous SNVSO:0001583|missense_variant382111Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
Breast_and/or_ovarian_cancer
not_provided
321332932032.(chr13-32932032-AATGATGGAAtoAA)AATGATGGAAAABRCA2BRCA2:NM_000059.3:exon16:c.7771_7780AAframeshift substitution'-'-1.
331332915214rs397507375(chr13-32915214-CAGtoC)CAGCBRCA2BRCA2:NM_000059.3:exon11:c.6722_6724Cframeshift substitutionSO:0001589|frameshift_variant380621.
341332914815rs35029074(chr13-32914815-GtoA)GABRCA2BRCA2:NM_000059.3:exon11:c.G6323A:p.R2108Hnonsynonymous SNVSO:0001583|missense_variant380372Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
351332912807rs80358666(chr13-32912807-GtoA)GABRCA2BRCA2:NM_000059.3:exon11:c.G4315A:p.A1439Tnonsynonymous SNVSO:0001583|missense_variant516301Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
361332903575rs431825341(chr13-32903575-TACtoT)TACTBRCA2NC_000013.11:g.32329440_32329441del
NC_000013.10:g.32903577_32903578del
NG_012772.3:g.18961_18962del
splicingSO:0001574|splice_acceptor_variant968371.
371332890660rs1280004443(chr13-32890660-AtoG)AGBRCA2BRCA2:NM_000059.3:exon2:c.A63G:p.K21Ksynonymous SNVSO:0001819|synonymous_variant4389971Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
not_specified
381256495414rs758455948(chr12-56495414-CtoT)CTERBB3ERBB3:NM_001982.3:exon28:c.C3604T:p.R1202Wnonsynonymous SNV'-'-5.
391256488334rs757518347(chr12-56488334-CtoT)CTERBB3ERBB3:NM_001982.3:exon15:c.C1853T:p.T618Inonsynonymous SNV'-'-3.
401256482362rs768226214(chr12-56482362-GtoT)GTERBB3ERBB3:NM_001982.3:exon8:c.G910T:p.A304Snonsynonymous SNV'-'-3.
411212871044rs769828807(chr12-12871044-CtoA)CACDKN1BCDKN1B:NM_004064.4:exon1:c.C271A:p.P91Tnonsynonymous SNVSO:0001583|missense_variant4690113Multiple_endocrine_neoplasia,_type_4
421156845441rs762948862(chr1-156845441-AtoG)AGNTRK1NTRK1:NM_001012331.1:exon11:c.A1466G:p.Q489R
NTRK1:NM_001007792.1:exon12:c.A1376G:p.Q459R
NTRK1:NM_002529.3:exon12:c.A1484G:p.Q495R
nonsynonymous SNV'-'-2.
431156816322rs750122799(chr1-156816322-GtoT)GTINSRRINSRR:NM_014215.3:exon8:c.C1799A:p.T600Knonsynonymous SNV'-'-2.
4411108139232rs764409952(chr11-108139232-CtoG)CGATMATM:NM_000051.3:exon18:c.C2734G:p.Q912E
ATM:NM_001351834.2:exon19:c.C2734G:p.Q912E
nonsynonymous SNV'-'-1.
4511108139218rs775371838(chr11-108139218-GtoT)GTATMATM:NM_000051.3:exon18:c.G2720T:p.C907F
ATM:NM_001351834.2:exon19:c.G2720T:p.C907F
nonsynonymous SNVSO:0001583|missense_variant1853902Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
4611108122640.(chr11-108122640-AtoG)AGATMATM:NM_000051.3:exon11:c.A1684G:p.N562D
ATM:NM_001351834.2:exon12:c.A1684G:p.N562D
nonsynonymous SNV'-'-1.
4711108117798rs138398778(chr11-108117798-CtoT)CTATMATM:NM_000051.3:exon8:c.C1009T:p.R337C
ATM:NM_001351834.2:exon9:c.C1009T:p.R337C
nonsynonymous SNVSO:0001583|missense_variant1273271Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
4811108100042rs766951228(chr11-108100042-CtoG)CGATMATM:NM_000051.3:exon4:c.C323G:p.A108G
ATM:NM_001351835.1:exon4:c.C323G:p.A108G
ATM:NM_001351836.1:exon4:c.C323G:p.A108G
ATM:NM_001351834.2:exon5:c.C323G:p.A108G
nonsynonymous SNVSO:0001583|missense_variant4076411Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
491090700985rs112687898(chr10-90700985-CtoG)CGACTA2NM_001320855.1:exon6:c.616+1G>C;NM_001613.4:exon6:c.616+1G>C;NM_001141945.2:exon6:c.616+1G>rs112687898splicing'-'-4.
50643581918rs121908565(chr6-43581918-AtoC)ACPOLHPOLH:NM_001291969:exon9:c.A1394C:p.K465T
POLH:NM_006502:exon11:c.A1766C:p.K589T
nonsynonymous SNVSO:0001583|missense_variant
SO:0001624|3_prime_UTR_variant
58951Xeroderma_pigmentosum,_variant_type
513165547750rs121918557(chr3-165547750-AtoT)ATBCHEBCHE:NM_000055:exon2:c.T1072A:p.L358Inonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
132261Deficiency_of_butyrylcholine_esterase
Butyrylcholinesterase_deficiency,_fluoride-resistant,_japanese_type
5212112888193rs397516801(chr12-112888193-AtoG)AGPTPN11PTPN11:NM_001330437:exon3:c.A209G:p.K70R
PTPN11:NM_002834:exon3:c.A209G:p.K70R
PTPN11:NM_080601:exon3:c.A209G:p.K70R
nonsynonymous SNVSO:0001583|missense_variant446031Noonan_syndrome
Rasopathy
not_provided
53177577575rs587782289(chr17-7577575-AtoC)ACTP53TP53:NM_001126115:exon3:c.T310G:p.Y104D
TP53:NM_001126116:exon3:c.T310G:p.Y104D
TP53:NM_001126117:exon3:c.T310G:p.Y104D
TP53:NM_001276697:exon3:c.T229G:p.Y77D
TP53:NM_001276698:exon3:c.T229G:p.Y77D
TP53:NM_001276699:exon3:c.T229G:p.Y77D
TP53:NM_001126118:exon6:c.T589G:p.Y197D
TP53:NM_000546:exon7:c.T706G:p.Y236D
TP53:NM_001126112:exon7:c.T706G:p.Y236D
TP53:NM_001126113:exon7:c.T706G:p.Y236D
TP53:NM_001126114:exon7:c.T706G:p.Y236D
TP53:NM_001276695:exon7:c.T589G:p.Y197D
TP53:NM_001276696:exon7:c.T589G:p.Y197D
TP53:NM_001276760:exon7:c.T589G:p.Y197D
TP53:NM_001276761:exon7:c.T589G:p.Y197D
nonsynonymous SNVSO:0001583|missense_variant1421831Pancreatic_adenocarcinoma
Squamous_cell_carcinoma_of_the_skin
Lung_adenocarcinoma
Squamous_cell_lung_carcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Neoplasm_of_the_large_intestine
Squamous_cell_carcinoma_of_the_head_and_neck
Adenocarcinoma_of_prostate
Hereditary_cancer-predisposing_syndrome
Adenocarcinoma_of_stomach
Ovarian_Serous_Cystadenocarcinoma
541352515330rs60431989(chr13-52515330-AtoG)AGATP7BATP7B:NM_001005918:exon12:c.T2822C:p.I941T
ATP7B:NM_001330579:exon14:c.T3191C:p.I1064T
ATP7B:NM_001330578:exon15:c.T3209C:p.I1070T
ATP7B:NM_000053:exon16:c.T3443C:p.I1148T
ATP7B:NM_001243182:exon17:c.T3110C:p.I1037T
nonsynonymous SNVSO:0001583|missense_variant371222.
551164367222rs765990518(chr11-64367222-AtoT)ATSLC22A12SLC22A12:NM_001276327:exon5:c.A821T:p.Q274L
SLC22A12:NM_001276326:exon7:c.A1043T:p.Q348L
SLC22A12:NM_144585:exon7:c.A1145T:p.Q382L
SLC22A12:NM_153378:exon7:c.A482T:p.Q161L
nonsynonymous SNVSO:0001583|missense_variant3052393Familial_renal_hypouricemia
561332907014rs80358427(chr13-32907014-AtoT)ATBRCA2BRCA2:NM_000059:exon10:c.A1399T:p.K467XstopgainSO:0001587|nonsense511181Neoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
571573617719rs104894485(chr15-73617719-CtoT)CTHCN4HCN4:NM_005477:exon5:c.G1657A:p.D553Nnonsynonymous SNVSO:0001583|missense_variant51751Sick_sinus_syndrome_2,_autosomal_dominant
58X100658972rs104894833(chrX-100658972-CtoG)CGGLAGLA:NM_000169:exon2:c.G196C:p.E66Qnonsynonymous SNVSO:0001583|missense_variant1635483.
59177577085rs112431538(chr17-7577085-CtoT)CTTP53TP53:NM_001126115:exon4:c.G457A:p.E153K
TP53:NM_001126116:exon4:c.G457A:p.E153K
TP53:NM_001126117:exon4:c.G457A:p.E153K
TP53:NM_001276697:exon4:c.G376A:p.E126K
TP53:NM_001276698:exon4:c.G376A:p.E126K
TP53:NM_001276699:exon4:c.G376A:p.E126K
TP53:NM_001126118:exon7:c.G736A:p.E246K
TP53:NM_000546:exon8:c.G853A:p.E285K
TP53:NM_001126112:exon8:c.G853A:p.E285K
TP53:NM_001126113:exon8:c.G853A:p.E285K
TP53:NM_001126114:exon8:c.G853A:p.E285K
TP53:NM_001276695:exon8:c.G736A:p.E246K
TP53:NM_001276696:exon8:c.G736A:p.E246K
TP53:NM_001276760:exon8:c.G736A:p.E246K
TP53:NM_001276761:exon8:c.G736A:p.E246K
nonsynonymous SNVSO:0001583|missense_variant4201331Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
PARP_Inhibitor_response
not_provided
601225398281rs112445441(chr12-25398281-CtoT)CTKRASKRAS:NM_004985:exon2:c.G38A:p.G13D
KRAS:NM_033360:exon2:c.G38A:p.G13D
nonsynonymous SNVSO:0001583|missense_variant125801Acute_myeloid_leukemia
Juvenile_myelomonocytic_leukemia
Non-small_cell_lung_cancer
Neoplasm_of_the_thyroid_gland
Neoplasm_of_the_large_intestine
Ovarian_Neoplasms
Breast_adenocarcinoma
RAS-associated_autoimmune_leukoproliferative_disorder
61X148585007rs113993949(chrX-148585007-CtoT)CTIDSIDS:NM_000202:exon3:c.G253A:p.A85T
IDS:NM_006123:exon3:c.G253A:p.A85T
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
926172Mucopolysaccharidosis,_MPS-II
62177577538rs11540652(chr17-7577538-CtoT)CTTP53TP53:NM_001126115:exon3:c.G347A:p.R116Q
TP53:NM_001126116:exon3:c.G347A:p.R116Q
TP53:NM_001126117:exon3:c.G347A:p.R116Q
TP53:NM_001276697:exon3:c.G266A:p.R89Q
TP53:NM_001276698:exon3:c.G266A:p.R89Q
TP53:NM_001276699:exon3:c.G266A:p.R89Q
TP53:NM_001126118:exon6:c.G626A:p.R209Q
TP53:NM_000546:exon7:c.G743A:p.R248Q
TP53:NM_001126112:exon7:c.G743A:p.R248Q
TP53:NM_001126113:exon7:c.G743A:p.R248Q
TP53:NM_001126114:exon7:c.G743A:p.R248Q
TP53:NM_001276695:exon7:c.G626A:p.R209Q
TP53:NM_001276696:exon7:c.G626A:p.R209Q
TP53:NM_001276760:exon7:c.G626A:p.R209Q
TP53:NM_001276761:exon7:c.G626A:p.R209Q
nonsynonymous SNVSO:0001583|missense_variant123561Li-Fraumeni_syndrome_1
Hepatocellular_carcinoma
Neoplasm
Medulloblastoma
Acute_myeloid_leukemia
Chronic_lymphocytic_leukemia
Pancreatic_adenocarcinoma
Squamous_cell_carcinoma_of_the_skin
Transitional_cell_carcinoma_of_the_bladder
Multiple_myeloma
Brainstem_glioma
Carcinoma_of_esophagus
Lung_adenocarcinoma
Small_cell_lung_cancer
Squamous_cell_lung_carcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Sarcoma
Neoplasm_of_the_large_intestine
Squamous_cell_carcinoma_of_the_head_and_neck
Malignant_melanoma_of_skin
Glioblastoma
Myelodysplastic_syndrome
Adenocarcinoma_of_prostate
Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
Malignant_neoplasm_of_body_of_uterus
Adenocarcinoma_of_stomach
Ovarian_Serous_Cystadenocarcinoma
Uterine_Carcinosarcoma
Malignant_Colorectal_Neoplasm
not_provided
631778087149rs121907938(chr17-78087149-CtoT)CTGAAGAA:NM_000152:exon15:c.C2173T:p.R725W
GAA:NM_001079804:exon15:c.C2173T:p.R725W
GAA:NM_001079803:exon16:c.C2173T:p.R725W
nonsynonymous SNVSO:0001583|missense_variant40241Glycogen_storage_disease,_type_II
Glycogen_storage_disease_II,_adult_form
641911223983rs121908043(chr19-11223983-CtoT)CTLDLRLDLR:NM_001195800:exon7:c.C712T:p.R238W
LDLR:NM_001195799:exon8:c.C1093T:p.R365W
LDLR:NM_001195803:exon8:c.C835T:p.R279W
LDLR:NM_000527:exon9:c.C1216T:p.R406W
LDLR:NM_001195798:exon9:c.C1216T:p.R406W
nonsynonymous SNVSO:0001583|missense_variant2263511Familial_hypercholesterolemia
652241814542rs121908526(chr2-241814542-CtoT)CTAGXTAGXT:NM_000030:exon7:c.C697T:p.R233Cnonsynonymous SNVSO:0001583|missense_variant56471Primary_hyperoxaluria,_type_I
66341266137rs121913409(chr3-41266137-CtoT)CTCTNNB1CTNNB1:NM_001098209:exon3:c.C134T:p.S45F
CTNNB1:NM_001098210:exon3:c.C134T:p.S45F
CTNNB1:NM_001904:exon3:c.C134T:p.S45F
CTNNB1:NM_001330729:exon4:c.C113T:p.S38F
nonsynonymous SNVSO:0001583|missense_variant175881Hepatocellular_carcinoma
Transitional_cell_carcinoma_of_the_bladder
Adrenocortical_carcinoma
Cutaneous_melanoma
Lung_adenocarcinoma
Neoplasm_of_the_large_intestine
Malignant_melanoma_of_skin
Disease
Adenocarcinoma_of_prostate
Malignant_neoplasm_of_body_of_uterus
Wilms_Tumor
671225398284rs121913529(chr12-25398284-CtoA)CAKRASKRAS:NM_004985:exon2:c.G35T:p.G12V
KRAS:NM_033360:exon2:c.G35T:p.G12V
nonsynonymous SNVSO:0001583|missense_variant125831Cerebral_arteriovenous_malformation
Acute_myeloid_leukemia
Nevus_sebaceous
Juvenile_myelomonocytic_leukemia
Non-small_cell_lung_cancer
Neoplasm_of_the_thyroid_gland
Neoplasm_of_the_large_intestine
Carcinoma_of_pancreas
Ovarian_Neoplasms
not_provided
684655977rs121918581(chr4-655977-CtoT)CTPDE6BPDE6B:NM_001350155:exon9:c.C514T:p.H172Y
PDE6B:NM_001145292:exon11:c.C832T:p.H278Y
PDE6B:NM_001350154:exon11:c.C832T:p.H278Y
PDE6B:NM_000283:exon13:c.C1669T:p.H557Y
PDE6B:NM_001145291:exon13:c.C1669T:p.H557Y
nonsynonymous SNVSO:0001583|missense_variant131062Retinitis_pigmentosa
Retinitis_pigmentosa_40
6996554768rs121964980(chr9-6554768-CtoT)CTGLDCGLDC:NM_000170:exon19:c.G2216A:p.R739Hnonsynonymous SNVSO:0001583|missense_variant119901Non-ketotic_hyperglycinemia
709139262240rs149712114(chr9-139262240-CtoG)CGCARD9CARD9:NM_052813:exon8:c.G1118C:p.R373P
CARD9:NM_052814:exon8:c.G1118C:p.R373P
nonsynonymous SNVSO:0001583|missense_variant888511Candidiasis,_familial,_2
711450769619rs150299874(chr14-50769619-CtoT)CTL2HGDH..SO:0001575|splice_donor_variant3797811not_provided
72330713741rs199660234(chr3-30713741-CtoG)CGTGFBR2TGFBR2:NM_003242:exon4:c.C1066G:p.R356G
TGFBR2:NM_001024847:exon5:c.C1141G:p.R381G
nonsynonymous SNVSO:0001583|missense_variant2139201not_provided
73349940126rs200046052(chr3-49940126-CtoT)CTMST1RMST1R:NM_001244937:exon1:c.G917A:p.R306H
MST1R:NM_001318913:exon1:c.G917A:p.R306H
MST1R:NM_002447:exon1:c.G917A:p.R306H
nonsynonymous SNVSO:0001583|missense_variant2531852Nasopharyngeal_carcinoma,_susceptibility_to,_3
741828972163rs267606777(chr18-28972163-CtoT)CTDSG4DSG4:NM_001134453:exon8:c.C865T:p.R289X
DSG4:NM_177986:exon8:c.C865T:p.R289X
stopgainSO:0001587|nonsense27261Hypotrichosis_6
75177578406rs28934578(chr17-7578406-CtoT)CTTP53TP53:NM_001126115:exon1:c.G128A:p.R43H
TP53:NM_001126116:exon1:c.G128A:p.R43H
TP53:NM_001126117:exon1:c.G128A:p.R43H
TP53:NM_001276697:exon1:c.G47A:p.R16H
TP53:NM_001276698:exon1:c.G47A:p.R16H
TP53:NM_001276699:exon1:c.G47A:p.R16H
TP53:NM_001126118:exon4:c.G407A:p.R136H
TP53:NM_000546:exon5:c.G524A:p.R175H
TP53:NM_001126112:exon5:c.G524A:p.R175H
TP53:NM_001126113:exon5:c.G524A:p.R175H
TP53:NM_001126114:exon5:c.G524A:p.R175H
TP53:NM_001276695:exon5:c.G407A:p.R136H
TP53:NM_001276696:exon5:c.G407A:p.R136H
TP53:NM_001276760:exon5:c.G407A:p.R136H
TP53:NM_001276761:exon5:c.G407A:p.R136H
nonsynonymous SNVSO:0001583|missense_variant123741Li-Fraumeni_syndrome_1
Neoplasm
Neoplasm_of_the_breast
Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
Malignant_tumor_of_esophagus
not_provided
7665771526rs372054960(chr6-5771526-CtoT)CTFARS2FARS2:NM_001318872:exon7:c.C1220T:p.T407M
FARS2:NM_006567:exon7:c.C1220T:p.T407M
nonsynonymous SNVSO:0001583|missense_variant2143313Combined_oxidative_phosphorylation_deficiency_14
not_provided
77348616674rs374718902(chr3-48616674-CtoT)CTCOL7A1COL7A1:NM_000094:exon61:c.G5344A:p.G1782Rnonsynonymous SNVSO:0001583|missense_variant3723391not_provided
783127318284rs375851208(chr3-127318284-CtoT)CTMCM2MCM2:NM_004526:exon2:c.C130T:p.R44Cnonsynonymous SNVSO:0001583|missense_variant2351294Deafness,_autosomal_dominant_70
7912112926872rs397507541(chr12-112926872-CtoT)CTPTPN11PTPN11:NM_001330437:exon13:c.C1504T:p.R502W
PTPN11:NM_002834:exon13:c.C1492T:p.R498W
nonsynonymous SNVSO:0001583|missense_variant405531Inborn_genetic_diseases
Noonan_syndrome_1
LEOPARD_syndrome_1
Rasopathy
not_provided
801332972800rs397507568(chr13-32972800-CtoT)CTBRCA2BRCA2:NM_000059:exon27:c.C10150T:p.R3384XstopgainSO:0001587|nonsense510492Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Cancer_of_the_pancreas
Breast-ovarian_cancer,_familial_2
not_specified
812212288966rs397514262(chr2-212288966-CtoT)CTERBB4ERBB4:NM_001042599:exon23:c.G2780A:p.R927Q
ERBB4:NM_005235:exon23:c.G2780A:p.R927Q
nonsynonymous SNVSO:0001583|missense_variant646251Amyotrophic_lateral_sclerosis_19
not_provided
825112128191rs397515734(chr5-112128191-CtoT)CTAPCAPC:NM_000038:exon7:c.C694T:p.R232X
APC:NM_001127510:exon8:c.C694T:p.R232X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
422481Hereditary_cancer-predisposing_syndrome
Familial_adenomatous_polyposis_1
Familial_adenomatous_polyposis
not_provided
8312103234270rs5030859(chr12-103234270-CtoT)CTPAHPAH:NM_000277:exon12:c.G1223A:p.R408Qnonsynonymous SNVSO:0001583|missense_variant6121Phenylketonuria
not_provided
842251065134rs74315471(chr22-51065134-CtoT)CTARSAARSA:NM_000487:exon4:c.G739A:p.G247R
ARSA:NM_001085428:exon4:c.G481A:p.G161R
ARSA:NM_001085425:exon5:c.G739A:p.G247R
ARSA:NM_001085426:exon5:c.G739A:p.G247R
ARSA:NM_001085427:exon5:c.G739A:p.G247R
nonsynonymous SNVSO:0001583|missense_variant30742Metachromatic_leukodystrophy
Metachromatic_leukodystrophy,_severe
not_provided
8511108137985rs758081262(chr11-108137985-CtoT)CTATMATM:NM_000051:exon17:c.C2554T:p.Q852XstopgainSO:0001587|nonsense4074501Ataxia-telangiectasia_syndrome
86643572374rs759607901(chr6-43572374-CtoT)CTPOLHPOLH:NM_001291969:exon6:c.C535T:p.R179X
POLH:NM_001291970:exon8:c.C907T:p.R303X
POLH:NM_006502:exon8:c.C907T:p.R303X
stopgainSO:0001587|nonsense2240632Xeroderma_pigmentosum,_variant_type
87349934783rs763246446(chr3-49934783-CtoT)CTMST1RMST1R:NM_001318913:exon5:c.G1795A:p.E599K
MST1R:NM_001244937:exon7:c.G2113A:p.E705K
MST1R:NM_002447:exon7:c.G2113A:p.E705K
nonsynonymous SNV'-'-1.
885131939047rs765975825(chr5-131939047-CtoT)CTRAD50RAD50:NM_005732:exon14:c.C2263T:p.Q755XstopgainSO:0001587|nonsense4804351Hereditary_cancer-predisposing_syndrome
89513753598rs769458738(chr5-13753598-CtoT)CTDNAH5DNAH5:NM_001369:exon63:c.G10616A:p.R3539Hnonsynonymous SNVSO:0001583|missense_variant2165421Ciliary_dyskinesia
9011108235935rs770641163(chr11-108235935-CtoT)CTATMATM:NM_000051:exon62:c.C8977T:p.R2993XstopgainSO:0001587|nonsense1863301Hereditary_breast_and_ovarian_cancer_syndrome
Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
Familial_cancer_of_breast
not_provided
91349933193rs773053723(chr3-49933193-CtoT)CTMST1RMST1R:NM_001318913:exon10:c.G2599A:p.A867T
MST1R:NM_001244937:exon11:c.G2770A:p.A924T
MST1R:NM_002447:exon12:c.G2917A:p.A973T
nonsynonymous SNV'-'-2.
9213100915068rs774738181(chr13-100915068-CtoT)CTPCCAPCCA:NM_001127692:exon9:c.C724T:p.R242C
PCCA:NM_000282:exon10:c.C802T:p.R268C
PCCA:NM_001178004:exon10:c.C802T:p.R268C
nonsynonymous SNVSO:0001583|missense_variant2894021Propionyl-CoA_carboxylase_deficiency
not_provided
93830982072rs774765029(chr8-30982072-CtoT)CTWRNWRN:NM_000553:exon22:c.C2665T:p.R889XstopgainSO:0001587|nonsense4040451Werner_syndrome
945131973850rs778555849(chr5-131973850-CtoT)CTRAD50RAD50:NM_005732:exon23:c.C3553T:p.R1185XstopgainSO:0001587|nonsense2160971Hereditary_cancer-predisposing_syndrome
not_provided
951100327076rs781580050(chr1-100327076-CtoT)CTAGLAGL:NM_000028:exon3:c.C100T:p.R34X
AGL:NM_000642:exon3:c.C100T:p.R34X
AGL:NM_000643:exon3:c.C100T:p.R34X
AGL:NM_000644:exon3:c.C100T:p.R34X
AGL:NM_000646:exon3:c.C52T:p.R18X
stopgainSO:0001587|nonsense1887432Glycogen_storage_disease_type_III
96795751309rs80338724(chr7-95751309-CtoT)CTSLC25A13SLC25A13:NM_001160210:exon16:c.G1595A:p.G532D
SLC25A13:NM_014251:exon16:c.G1592A:p.G531D
nonsynonymous SNVSO:0001583|missense_variant215091Neonatal_intrahepatic_cholestasis_caused_by_citrin_deficiency
971332914148rs80358790(chr13-32914148-CtoT)CTBRCA2BRCA2:NM_000059:exon11:c.C5656T:p.Q1886XstopgainSO:0001587|nonsense519001Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
not_provided
981332930609rs80358972(chr13-32930609-CtoT)CTBRCA2BRCA2:NM_000059:exon15:c.C7480T:p.R2494XstopgainSO:0001587|nonsense380992Tracheoesophageal_fistula
Medulloblastoma
Malignant_tumor_of_prostate
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Familial_cancer_of_breast
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Glioma_susceptibility_3
Pancreatic_cancer_2
Wilms_tumor_1
not_provided
993178936091rs104886003(chr3-178936091-GtoA)GAPIK3CAPIK3CA:NM_006218:exon10:c.G1633A:p.E545Knonsynonymous SNVSO:0001583|missense_variant136551Hepatocellular_carcinoma
Renal_cell_carcinoma,_papillary,_1
Pancreatic_adenocarcinoma
Transitional_cell_carcinoma_of_the_bladder
Neoplasm_of_stomach
Brainstem_glioma
Carcinoma_of_esophagus
Lung_adenocarcinoma
Small_cell_lung_cancer
Non-small_cell_lung_cancer
Squamous_cell_lung_carcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Sarcoma
Neoplasm_of_the_large_intestine
Squamous_cell_carcinoma_of_the_head_and_neck
Papillary_renal_cell_carcinoma,_sporadic
Malignant_melanoma_of_skin
Uterine_cervical_neoplasms
Glioblastoma
Nasopharyngeal_Neoplasms
Ovarian_Neoplasms
Adenocarcinoma_of_prostate
Keratosis,_seborrheic
Malignant_neoplasm_of_body_of_uterus
Carcinoma_of_gallbladder
Adenocarcinoma_of_stomach
Ovarian_Serous_Cystadenocarcinoma
Uterine_Carcinosarcoma
Ovarian_epithelial_cancer
Carcinoma_of_colon
Breast_adenocarcinoma
Megalencephaly_cutis_marmorata_telangiectatica_congenita
100934649500rs111033808(chr9-34649500-GtoA)GAGALTGALT:NM_001258332:exon8:c.G671A:p.R224Q
GALT:NM_000155:exon10:c.G998A:p.R333Q
nonsynonymous SNVSO:0001583|missense_variant382881Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase
1012219679132rs121908099(chr2-219679132-GtoA)GACYP27A1CYP27A1:NM_000784:exon7:c.G1214A:p.R405Qnonsynonymous SNVSO:0001583|missense_variant42603Cholestanol_storage_disease
not_provided
1029133364851rs121908639(chr9-133364851-GtoA)GAASS1ASS1:NM_054012:exon12:c.G970A:p.G324S
ASS1:NM_000050:exon13:c.G970A:p.G324S
nonsynonymous SNVSO:0001583|missense_variant63271Citrullinemia_type_I
1032133039620rs121912459(chr21-33039620-GtoA)GASOD1SOD1:NM_000454:exon4:c.G289A:p.D97Nnonsynonymous SNVSO:0001583|missense_variant147831Amyotrophic_lateral_sclerosis_1,_autosomal_recessive
1041541011016rs121917739(chr15-41011016-GtoA)GARAD51RAD51:NM_001164269:exon6:c.G452A:p.R151Q
RAD51:NM_001164270:exon6:c.G449A:p.R150Q
RAD51:NM_002875:exon6:c.G449A:p.R150Q
RAD51:NM_133487:exon6:c.G452A:p.R151Q
nonsynonymous SNVSO:0001583|missense_variant131273Familial_cancer_of_breast
1051778090815rs1800312(chr17-78090815-GtoC)GCGAAGAA:NM_000152:exon16:c.G2238C:p.W746C
GAA:NM_001079804:exon16:c.G2238C:p.W746C
GAA:NM_001079803:exon17:c.G2238C:p.W746C
nonsynonymous SNVSO:0001583|missense_variant2651602Glycogen_storage_disease,_type_II
not_specified
not_provided
106271797430rs28937581(chr2-71797430-GtoT)GTDYSFDYSF:NM_001130976:exon27:c.G2955T:p.W985C
DYSF:NM_001130977:exon27:c.G2955T:p.W985C
DYSF:NM_001130984:exon27:c.G2958T:p.W986C
DYSF:NM_001130986:exon27:c.G2958T:p.W986C
DYSF:NM_001130455:exon28:c.G3000T:p.W1000C
DYSF:NM_001130978:exon28:c.G2997T:p.W999C
DYSF:NM_001130980:exon28:c.G3048T:p.W1016C
DYSF:NM_001130981:exon28:c.G3048T:p.W1016C
DYSF:NM_001130983:exon28:c.G3000T:p.W1000C
DYSF:NM_001130985:exon28:c.G3051T:p.W1017C
DYSF:NM_001130987:exon28:c.G3051T:p.W1017C
DYSF:NM_003494:exon28:c.G2997T:p.W999C
DYSF:NM_001130979:exon29:c.G3090T:p.W1030C
DYSF:NM_001130982:exon29:c.G3093T:p.W1031C
nonsynonymous SNVSO:0001583|missense_variant66742Miyoshi_muscular_dystrophy_1
Limb-girdle_muscular_dystrophy,_type_2B
1077130038776rs371812716(chr7-130038776-GtoA)GACEP41CEP41:NM_001257159:exon9:c.C814T:p.R272C
CEP41:NM_001257158:exon10:c.C862T:p.R288C
CEP41:NM_018718:exon11:c.C1078T:p.R360C
nonsynonymous SNVSO:0001583|missense_variant308431Joubert_syndrome_9/15,_digenic
1081848591919rs377767347(chr18-48591919-GtoT)GTSMAD4SMAD4:NM_005359:exon9:c.G1082T:p.R361Lnonsynonymous SNVSO:0001583|missense_variant248331Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome
1091631196352rs387906628(chr16-31196352-GtoA)GAFUSFUS:NM_001170634:exon6:c.G613A:p.G205S
FUS:NM_001170937:exon6:c.G604A:p.G202S
FUS:NM_004960:exon6:c.G616A:p.G206S
nonsynonymous SNVSO:0001583|missense_variant297083Amyotrophic_lateral_sclerosis_type_6
1101332945092rs397507404(chr13-32945092-GtoA)GABRCA2..SO:0001574|splice_acceptor_variant381641Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
not_provided
1112219679182rs397515355(chr2-219679182-GtoA)GACYP27A1..SO:0001575|splice_donor_variant42621Cholestanol_storage_disease
not_provided
112177578263rs397516435(chr17-7578263-GtoA)GATP53TP53:NM_001126115:exon2:c.C190T:p.R64X
TP53:NM_001126116:exon2:c.C190T:p.R64X
TP53:NM_001126117:exon2:c.C190T:p.R64X
TP53:NM_001276697:exon2:c.C109T:p.R37X
TP53:NM_001276698:exon2:c.C109T:p.R37X
TP53:NM_001276699:exon2:c.C109T:p.R37X
TP53:NM_001126118:exon5:c.C469T:p.R157X
TP53:NM_000546:exon6:c.C586T:p.R196X
TP53:NM_001126112:exon6:c.C586T:p.R196X
TP53:NM_001126113:exon6:c.C586T:p.R196X
TP53:NM_001126114:exon6:c.C586T:p.R196X
TP53:NM_001276695:exon6:c.C469T:p.R157X
TP53:NM_001276696:exon6:c.C469T:p.R157X
TP53:NM_001276760:exon6:c.C469T:p.R157X
TP53:NM_001276761:exon6:c.C469T:p.R157X
stopgainSO:0001587|nonsense435891Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
not_specified
not_provided
113935740830rs398123014(chr9-35740830-GtoA)GAGBA2GBA2:NM_001330660:exon5:c.C1018T:p.R340X
GBA2:NM_020944:exon5:c.C1018T:p.R340X
stopgainSO:0001587|nonsense414891Spastic_paraplegia_46,_autosomal_recessive
114664431122rs527236067(chr6-64431122-GtoT)GTEYSEYS:NM_001142800:exon43:c.C8805A:p.Y2935X
EYS:NM_001292009:exon44:c.C8868A:p.Y2956X
stopgainSO:0001587|nonsense1431153Retinitis_pigmentosa
1153129249877rs527236103(chr3-129249877-GtoA)GARHORHO:NM_000539:exon2:c.G520A:p.G174Snonsynonymous SNVSO:0001583|missense_variant1430801Retinitis_pigmentosa
1161494849345rs55819880(chr14-94849345-GtoA)GASERPINA1SERPINA1:NM_000295:exon2:c.C230T:p.S77F
SERPINA1:NM_001002235:exon2:c.C230T:p.S77F
SERPINA1:NM_001127700:exon2:c.C230T:p.S77F
SERPINA1:NM_001127702:exon3:c.C230T:p.S77F
SERPINA1:NM_001127706:exon3:c.C230T:p.S77F
SERPINA1:NM_001127707:exon3:c.C230T:p.S77F
SERPINA1:NM_001002236:exon4:c.C230T:p.S77F
SERPINA1:NM_001127701:exon4:c.C230T:p.S77F
SERPINA1:NM_001127703:exon4:c.C230T:p.S77F
SERPINA1:NM_001127704:exon4:c.C230T:p.S77F
SERPINA1:NM_001127705:exon4:c.C230T:p.S77F
nonsynonymous SNVSO:0001583|missense_variant179921PI_S(IIYAMA)
Alpha-1-antitrypsin_deficiency
11776027135rs587778617(chr7-6027135-GtoA)GAPMS2PMS2:NM_001322008:exon9:c.C943T:p.R315X
PMS2:NM_001322010:exon9:c.C700T:p.R234X
PMS2:NM_001322004:exon10:c.C856T:p.R286X
PMS2:NM_001322006:exon10:c.C1105T:p.R369X
PMS2:NM_001322007:exon10:c.C943T:p.R315X
PMS2:NM_001322013:exon10:c.C688T:p.R230X
PMS2:NM_000535:exon11:c.C1261T:p.R421X
PMS2:NM_001322003:exon11:c.C856T:p.R286X
PMS2:NM_001322005:exon11:c.C856T:p.R286X
PMS2:NM_001322009:exon11:c.C856T:p.R286X
PMS2:NM_001322011:exon11:c.C328T:p.R110X
PMS2:NM_001322012:exon11:c.C328T:p.R110X
PMS2:NM_001322014:exon11:c.C1261T:p.R421X
PMS2:NM_001322015:exon11:c.C952T:p.R318X
stopgainSO:0001587|nonsense912991Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
not_specified
not_provided
118145797752rs587781338(chr1-45797752-GtoA)GAMUTYHMUTYH:NM_001350650:exon10:c.C511T:p.Q171X
MUTYH:NM_001350651:exon10:c.C511T:p.Q171X
MUTYH:NM_001048171:exon11:c.C898T:p.Q300X
MUTYH:NM_001048172:exon11:c.C859T:p.Q287X
MUTYH:NM_001048173:exon11:c.C856T:p.Q286X
MUTYH:NM_001048174:exon11:c.C856T:p.Q286X
MUTYH:NM_001128425:exon11:c.C940T:p.Q314X
MUTYH:NM_001293190:exon11:c.C901T:p.Q301X
MUTYH:NM_001293191:exon11:c.C889T:p.Q297X
MUTYH:NM_001293192:exon11:c.C580T:p.Q194X
MUTYH:NM_001293196:exon11:c.C580T:p.Q194X
MUTYH:NM_012222:exon11:c.C931T:p.Q311X
MUTYH:NM_001293195:exon12:c.C856T:p.Q286X
stopgainSO:0001587|nonsense1408761Hereditary_cancer-predisposing_syndrome
MYH-associated_polyposis
not_provided
11911108141874rs587781558(chr11-108141874-GtoT)GTATM..SO:0001575|splice_donor_variant1420571Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
1201741243941rs62625308(chr17-41243941-GtoA)GABRCA1BRCA1:NM_007297:exon9:c.C3466T:p.R1156X
BRCA1:NM_007294:exon10:c.C3607T:p.R1203X
BRCA1:NM_007300:exon10:c.C3607T:p.R1203X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
176711Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Familial_cancer_of_breast
Ovarian_cancer
Breast-ovarian_cancer,_familial_1
Breast_and/or_ovarian_cancer
not_provided
1212169783827rs72549395(chr2-169783827-GtoA)GAABCB11ABCB11:NM_003742:exon26:c.C3457T:p.R1153Cnonsynonymous SNVSO:0001583|missense_variant2887261Benign_recurrent_intrahepatic_cholestasis_2
not_provided
12267565754rs727504443(chr6-7565754-GtoA)GADSP..SO:0001575|splice_donor_variant1782821Cardiomyopathy
Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8
Keratosis_palmoplantaris_striata_II
not_provided
123117371320rs74315370(chr1-17371320-GtoA)GASDHBSDHB:NM_003000:exon2:c.C136T:p.R46XstopgainSO:0001587|nonsense1427631Pheochromocytoma
Gastrointestinal_stroma_tumor
Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Paragangliomas_4
not_provided
124348623599rs747522386(chr3-48623599-GtoA)GACOL7A1COL7A1:NM_000094:exon27:c.C3631T:p.Q1211XstopgainSO:0001587|nonsense4201101not_provided
1259131088161rs747779231(chr9-131088161-GtoC)GCCOQ4..SO:0001575|splice_donor_variant3797403not_provided
126643006061rs749509661(chr6-43006061-GtoA)GACUL7CUL7:NM_001168370:exon25:c.C4969T:p.R1657X
CUL7:NM_014780:exon25:c.C4717T:p.R1573X
stopgainSO:0001587|nonsense1958943Inborn_genetic_diseases
not_provided
12710135180471rs754609693(chr10-135180471-GtoA)GAECHS1ECHS1:NM_004092:exon5:c.C541T:p.R181Cnonsynonymous SNVSO:0001583|missense_variant4883841Mitochondrial_short-chain_enoyl-coa_hydratase_1_deficiency
128348613705rs757415879(chr3-48613705-GtoA)GACOL7A1COL7A1:NM_000094:exon70:c.C5797T:p.R1933XstopgainSO:0001587|nonsense3458301Dystrophic_epidermolysis_bullosa
1291197404669rs757740068(chr1-197404669-GtoT)GTCRB1CRB1:NM_001193640:exon7:c.G3340T:p.G1114X
CRB1:NM_201253:exon9:c.G3676T:p.G1226X
CRB1:NM_001257965:exon12:c.G3604T:p.G1202X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
4380801Retinitis_pigmentosa
1308145738793rs758790200(chr8-145738793-GtoA)GARECQL4RECQL4:NM_004260:exon14:c.C2272T:p.R758XstopgainSO:0001587|nonsense4890312not_provided
1312178592878rs771254375(chr2-178592878-GtoC)GCPDE11APDE11A:NM_001077196:exon8:c.C479G:p.S160X
PDE11A:NM_001077358:exon10:c.C737G:p.S246X
PDE11A:NM_016953:exon11:c.C1811G:p.S604X
PDE11A:NM_001077197:exon12:c.C1061G:p.S354X
stopgainSO:0001587|nonsense2254333Pigmented_nodular_adrenocortical_disease,_primary,_2
1321911231108rs774730452(chr19-11231108-GtoA)GALDLRLDLR:NM_001195800:exon12:c.G1546A:p.A516T
LDLR:NM_001195799:exon13:c.G1927A:p.A643T
LDLR:NM_000527:exon14:c.G2050A:p.A684T
LDLR:NM_001195798:exon14:c.G2050A:p.A684T
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
2521921Familial_hypercholesterolemia
1333133654625rs776813259(chr3-133654625-GtoA)GASLCO2A1SLCO2A1:NM_005630:exon13:c.C1807T:p.R603XstopgainSO:0001587|nonsense2254772Primary_hypertrophic_osteoarthropathy,_autosomal_recessive_2
134226702224rs80356590(chr2-26702224-GtoA)GAOTOFOTOF:NM_001287489:exon18:c.C2122T:p.R708X
OTOF:NM_194248:exon18:c.C2122T:p.R708X
stopgainSO:0001587|nonsense
SO:0001636|2KB_upstream_variant
218311Deafness,_autosomal_recessive_9
Nonsyndromic_hearing_loss_and_deafness
13512114804117rs863223788(chr12-114804117-GtoA)GATBX5TBX5:NM_080717:exon7:c.C685T:p.R229X
TBX5:NM_000192:exon8:c.C835T:p.R279X
TBX5:NM_181486:exon8:c.C835T:p.R279X
stopgainSO:0001587|nonsense2138321Aortic_valve_disease_2
not_provided
136766459273rs120074160(chr7-66459273-TtoA)TASBDSSBDS:NM_016038:exon2:c.A184T:p.K62XstopgainSO:0001587|nonsense4490953Microcephaly
Deeply_set_eye
Splenomegaly
Short_stature
Agenesis_of_permanent_teeth
not_provided
137X70072943rs143246552(chrX-70072943-TtoC)TCTEX11TEX11:NM_031276:exon7:c.A466G:p.M156V
TEX11:NM_001003811:exon8:c.A511G:p.M171V
nonsynonymous SNVSO:0001583|missense_variant1923797Spermatogenic_failure,_X-linked,_2
13812121434501rs193922577(chr12-121434501-TtoC)TCHNF1AHNF1A:NM_000545:exon6:c.T1265C:p.L422P
HNF1A:NM_001306179:exon6:c.T1265C:p.L422P
nonsynonymous SNVSO:0001583|missense_variant367971Maturity-onset_diabetes_of_the_young,_type_3
139998279102rs755103500(chr9-98279102-TtoC)TCPTCH1PTCH1:NM_001083603:exon1:c.A1G:p.M1Vnonsynonymous SNV'-'-2.
1401773753393rs762236241(chr17-73753393-TtoC)TCITGB4..SO:0001575|splice_donor_variant2253964Epidermolysis_bullosa_simplex,_Cockayne-Touraine_type
Adult_junctional_epidermolysis_bullosa
Epidermolysis_bullosa_junctionalis_with_pyloric_atresia
141168904983rs80338702(chr16-8904983-TtoC)TCPMM2PMM2:NM_000303:exon5:c.T395C:p.I132Tnonsynonymous SNVSO:0001583|missense_variant77182Carbohydrate-deficient_glycoprotein_syndrome_type_I
1421235564859rs758937799(chr1-235564859-AAGtoA)AAGATBCETBCE:NM_001079515:exon3:c.142_144A
TBCE:NM_001287801:exon3:c.142_144A
TBCE:NM_003193:exon3:c.142_144A
frameshift substitutionSO:0001589|frameshift_variant
SO:0001627|intron_variant
2254832.
143447951883rs749012133(chr4-47951883-AGtoA)AGACNGA1CNGA1:NM_001142564:exon5:c.472_473T
CNGA1:NM_000087:exon6:c.265_266T
frameshift substitutionSO:0001589|frameshift_variant2253154.
144997365719rs757653154(chr9-97365719-AtoAC)AACFBP1FBP1:NM_000507:exon7:c.961delinsGT
FBP1:NM_001127628:exon8:c.961delinsGT
frameshift substitutionSO:0001589|frameshift_variant8671.
1451072358385rs771552960(chr10-72358385-CAGtoC)CAGCPRF1PRF1:NM_001083116:exon3:c.1090_1092G
PRF1:NM_005041:exon3:c.1090_1092G
frameshift substitutionSO:0001589|frameshift_variant137211.
14612103246712rs199475657(chr12-103246712-GCtoG)GCGPAHPAH:NM_000277:exon7:c.722_723Cframeshift substitutionSO:0001589|frameshift_variant1028061.
1471320763420rs111033204(chr13-20763420-CATtoC)CATCGJB2GJB2:NM_004004:exon2:c.299_301Gframeshift substitutionSO:0001589|frameshift_variant447362.
1481332890556rs758732038(chr13-32890556-CAGtoC)CAGCBRCA2..'-4210141.
14913108862342rs772226399(chr13-108862342-TCTTTto-)TCTTT'-LIG4LIG4:NM_001098268:exon2:c.1271_1275del:p.K424fs
LIG4:NM_002312:exon2:c.1271_1275del:p.K424fs
LIG4:NM_001330595:exon3:c.1070_1074del:p.K357fs
LIG4:NM_206937:exon3:c.1271_1275del:p.K424fs
frameshift deletion'-'-2LIG4-Related_Disorders
not_provided
1501759761413rs771028677(chr17-59761413-CTTTGtoC)CTTTGCBRIP1BRIP1:NM_032043:exon20:c.2990_2994Gframeshift substitutionSO:0001589|frameshift_variant2342811.
1511043609096rs76262710(chr10-43609096-TtoC)TCRETRET:NM_020630:exon10:c.T1852C:p.C618R
RET:NM_020975:exon10:c.T1852C:p.C618R
nonsynonymous SNVSO:0001583|missense_variant139290Medullary_thyroid_carcinoma
Multiple_endocrine_neoplasia,_type_1
Multiple_endocrine_neoplasia,_type_2a
Multiple_endocrine_neoplasia,_type_2b
Familial_medullary_thyroid_carcinoma
Multiple_endocrine_neoplasia,_type_4
Multiple_endocrine_neoplasia,_type_2
not_provided
1521043609939rs377767406(chr10-43609939-GtoT)GTRETRET:NM_020630:exon11:c.G1891T:p.D631Y
RET:NM_020975:exon11:c.G1891T:p.D631Y
nonsynonymous SNVSO:0001583|missense_variant249140.
1531043609948rs75076352(chr10-43609948-TtoC)TCRETRET:NM_020630:exon11:c.T1900C:p.C634R
RET:NM_020975:exon11:c.T1900C:p.C634R
nonsynonymous SNVSO:0001583|missense_variant139170.
1541043609949rs75996173(chr10-43609949-GtoA)GARETRET:NM_020630:exon11:c.G1901A:p.C634Y
RET:NM_020975:exon11:c.G1901A:p.C634Y
nonsynonymous SNVSO:0001583|missense_variant139090.
1551043609950rs77709286(chr10-43609950-CtoG)CGRETRET:NM_020630:exon11:c.C1902G:p.C634W
RET:NM_020975:exon11:c.C1902G:p.C634W
nonsynonymous SNVSO:0001583|missense_variant139180.
1561043614996rs79658334(chr10-43614996-GtoA)GARETRET:NM_020630:exon14:c.G2410A:p.V804M
RET:NM_020975:exon14:c.G2410A:p.V804M
nonsynonymous SNVSO:0001583|missense_variant371020.
1571043615142rs377767426(chr10-43615142-CtoG)CGRETRET:NM_020630:exon14:c.C2556G:p.I852M
RET:NM_020975:exon14:c.C2556G:p.I852M
nonsynonymous SNVSO:0001583|missense_variant249550.
1581043617398rs78347871(chr10-43617398-GtoC)GCRETRET:NM_020630:exon16:c.G2735C:p.R912P
RET:NM_020975:exon16:c.G2735C:p.R912P
nonsynonymous SNVSO:0001583|missense_variant249680Familial_medullary_thyroid_carcinoma
Multiple_endocrine_neoplasia,_type_2
1591043617416rs74799832(chr10-43617416-TtoC)TCRETRET:NM_020630:exon16:c.T2753C:p.M918T
RET:NM_020975:exon16:c.T2753C:p.M918T
nonsynonymous SNVSO:0001583|missense_variant139190.
1601064973628.(chr10-64973628-CtoA)CAJMJD1CJMJD1C:NM_001322254:exon6:c.G1642T:p.G548X
JMJD1C:NM_001282948:exon7:c.G1753T:p.G585X
JMJD1C:NM_001318153:exon7:c.G1435T:p.G479X
JMJD1C:NM_001322252:exon7:c.G2185T:p.G729X
JMJD1C:NM_001322258:exon7:c.G1642T:p.G548X
JMJD1C:NM_001318154:exon8:c.G1753T:p.G585X
JMJD1C:NM_032776:exon8:c.G2299T:p.G767X
stopgain'-'-0.
1611089624305rs746128825(chr10-89624305-TtoA)TAPTENPTEN:NM_000314:exon1:c.T79A:p.Y27N
PTEN:NM_001304717:exon2:c.T598A:p.Y200N
nonsynonymous SNV'-'-0.
1621089717719rs1060500119(chr10-89717719-TGto-)TG'-PTENPTEN:NM_000314:exon7:c.744_745del:p.P248fs
PTEN:NM_001304718:exon7:c.153_154del:p.P51fs
PTEN:NM_001304717:exon8:c.1263_1264del:p.P421fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
PTEN_hamartoma_tumor_syndrome
1631110776513rs771636670(chr11-10776513-CtoG)CGCTR9CTR9:NM_001346279:exon3:c.C153G:p.Y51X
CTR9:NM_014633:exon3:c.C153G:p.Y51X
stopgain'-'-0.
1641110778387rs757940976(chr11-10778387-TtoC)TCCTR9..'-'-0.
16511108098354rs781404312(chr11-108098354-GtoA)GAATMATM:NM_000051:exon2:c.G3A:p.M1Inonsynonymous SNVSO:0001583|missense_variant1889010Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
16611108098418rs746235533(chr11-108098418-CtoT)CTATMATM:NM_000051:exon2:c.C67T:p.R23XstopgainSO:0001587|nonsense2322480Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
16711108100002rs587781545(chr11-108100002-CtoT)CTATMATM:NM_000051:exon4:c.C283T:p.Q95XstopgainSO:0001587|nonsense1411670Hereditary_cancer-predisposing_syndrome
16811108106427rs771342315(chr11-108106427-TtoA)TAATMATM:NM_000051:exon5:c.T362A:p.L121XstopgainSO:0001587|nonsense4826260Hereditary_cancer-predisposing_syndrome
16911108106511rs771936821(chr11-108106511-TTCTto-)TTCT'-ATMATM:NM_000051:exon5:c.446_449del:p.I149fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
17011108114679rs778624615(chr11-108114679-GtoA)GAATM..SO:0001574|splice_acceptor_variant3752500.
17111108115640rs1060499601(chr11-108115640-Tto-)T'-ATMATM:NM_000051:exon7:c.788delT:p.L263fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
17211108115754rs748840480(chr11-108115754-GtoA)GAATM..SO:0001575|splice_donor_variant1867610Ataxia-telangiectasia_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
17311108117813rs587780612(chr11-108117813-AAAGto-)AAAG'-ATMATM:NM_000051:exon8:c.1024_1027del:p.K342fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
17411108121531rs587779815(chr11-108121531-CtoT)CTATMATM:NM_000051:exon10:c.C1339T:p.R447XstopgainSO:0001587|nonsense1273370Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
17511108121753rs587779817(chr11-108121753-AGto-)AG'-ATMATM:NM_000051:exon10:c.1561_1562del:p.R521fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
17611108124556.(chr11-108124556-AtoT)ATATMATM:NM_000051:exon13:c.A1914T:p.K638Nnonsynonymous SNV'-'-0.
17711108129749rs780619951(chr11-108129749-CtoT)CTATMATM:NM_000051:exon16:c.C2413T:p.R805XstopgainSO:0001587|nonsense2160210Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
17811108141874rs587781558(chr11-108141874-GtoA)GAATM..SO:0001575|splice_donor_variant1411820Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
17911108150225rs773964990(chr11-108150225-CtoT)CTATMATM:NM_000051:exon23:c.C3292T:p.Q1098Xstopgain'-'-0.
18011108151895rs587776551(chr11-108151895-GtoA)GAATMATM:NM_000051:exon24:c.G3576A:p.K1192Ksynonymous SNVSO:0001819|synonymous_variant30350Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
18111108155008rs587779834(chr11-108155008-Gto-)G'-ATMATM:NM_000051:exon26:c.3801delG:p.E1267fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
18211108160410rs1060501551(chr11-108160410-AtoT)ATATMATM:NM_000051:exon29:c.A4318T:p.K1440XstopgainSO:0001587|nonsense4074820Ataxia-telangiectasia_syndrome
not_provided
18311108165719rs753011366(chr11-108165719--toCT)'-CTATMATM:NM_000051:exon32:c.4842_4843insCT:p.L1614fsframeshift insertion'-'-0Hereditary_cancer-predisposing_syndrome
18411108172487rs587779846(chr11-108172487-Cto-)C'-ATMATM:NM_000051:exon35:c.5290delC:p.L1764fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
18511108173702rs878853522(chr11-108173702-Gto-)G'-ATMATM:NM_000051:exon36:c.5442delG:p.L1814fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
18611108175451rs876658287(chr11-108175451-Tto-)T'-ATMATM:NM_000051:exon37:c.5546delT:p.I1849fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
18711108175528rs376603775(chr11-108175528-CtoT)CTATMATM:NM_000051:exon37:c.C5623T:p.R1875XstopgainSO:0001587|nonsense2458150Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
18811108183151rs587779852(chr11-108183151-GtoT)GTATMATM:NM_000051:exon40:c.G5932T:p.E1978XstopgainSO:0001587|nonsense1274140Ataxia-telangiectasia_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
18911108186638rs139770721(chr11-108186638-GtoA)GAATMATM:NM_000051:exon41:c.G6095A:p.R2032Knonsynonymous SNVSO:0001583|missense_variant1819740Ataxia-telangiectasia_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
19011108196843.(chr11-108196843--toT)'-TATMATM:NM_000051:exon47:c.6867dupT:p.S2289fsframeshift insertion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
19111108198392rs587781299(chr11-108198392--toA)'-AATMATM:NM_000051:exon48:c.6997dupA:p.L2332fsframeshift insertion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
19211108198392rs786203421(chr11-108198392-TACAto-)TACA'-ATMATM:NM_000051:exon48:c.6996_6999del:p.L2332fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
19311108199881rs730881315(chr11-108199881-CtoA)CAATMATM:NM_000051:exon49:c.C7223A:p.S2408Xstopgain'-'-0.
19411108202673rs1060501547(chr11-108202673-CAAAto-)CAAA'-ATMATM:NM_000051:exon52:c.7697_7700del:p.A2566fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
not_provided
19511108202678rs759965045(chr11-108202678-AGto-)AG'-ATMATM:NM_000051:exon52:c.7702_7703del:p.R2568fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
19611108205832rs587782652(chr11-108205832-TtoC)TCATMATM:NM_000051:exon55:c.T8147C:p.V2716Anonsynonymous SNVSO:0001583|missense_variant1427000Ataxia-telangiectasia_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
19711108214065rs786202800(chr11-108214065-TTTCAGTGCCto-)TTTCAGTGCC'-ATMATM:NM_000051:exon57:c.8385_8394del:p.D2795fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
19811108216477rs587782558(chr11-108216477-Ato-)A'-ATMATM:NM_000051:exon58:c.8426delA:p.Q2809fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
19911108216491rs752526400(chr11-108216491-Gto-)G'-ATMATM:NM_000051:exon58:c.8440delG:p.E2814fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
20011108216545rs587779872(chr11-108216545-CtoT)CTATMATM:NM_000051:exon58:c.C8494T:p.R2832Cnonsynonymous SNVSO:0001583|missense_variant1274590Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
20111108224608rs17174393(chr11-108224608-GtoA)GAATM..SO:0001575|splice_donor_variant1274630Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
20211108225565rs758814126(chr11-108225565-GAGAAACTCTCto-)GAGAAACTCTC'-ATMATM:NM_000051:exon61:c.8814_8824del:p.M2938fsframeshift deletion'-'-0Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
20311108235935rs770641163(chr11-108235935-CtoT)CTATMATM:NM_000051:exon62:c.C8977T:p.R2993XstopgainSO:0001587|nonsense1863300Hereditary_breast_and_ovarian_cancer_syndrome
Ataxia-telangiectasia_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
20411108236086rs587782292(chr11-108236086-CtoT)CTATMATM:NM_000051:exon63:c.C9022T:p.R3008Cnonsynonymous SNVSO:0001583|missense_variant1421870Ataxia-telangiectasia_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
20511111957632rs104894307(chr11-111957632-AtoT)ATSDHDSDHD:NM_001276503:exon1:c.A1T:p.M1L
SDHD:NM_001276504:exon1:c.A1T:p.M1L
SDHD:NM_001276506:exon1:c.A1T:p.M1L
SDHD:NM_003002:exon1:c.A1T:p.M1L
nonsynonymous SNVSO:0001583|missense_variant4226290Hereditary_cancer-predisposing_syndrome
not_provided
20611111959590.(chr11-111959590-GtoT)GTSDHD..SO:0001574|splice_acceptor_variant
SO:0001627|intron_variant
4384340Pheochromocytoma
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Paraganglioma_and_gastric_stromal_sarcoma
Paragangliomas_1
Cowden_syndrome_3
20711111959663rs80338844(chr11-111959663-CtoT)CTSDHDSDHD:NM_001276504:exon2:c.C125T:p.P42L
SDHD:NM_001276506:exon3:c.C242T:p.P81L
SDHD:NM_003002:exon3:c.C242T:p.P81L
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
68960Pheochromocytoma
Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Paraganglioma_and_gastric_stromal_sarcoma
Paragangliomas_1
Paragangliomas_1_with_sensorineural_hearing_loss
Cowden_syndrome_3
not_provided
20811111965618.(chr11-111965618-Cto-)C'-SDHDSDHD:NM_001276504:exon3:c.287delC:p.T96fs
SDHD:NM_003002:exon4:c.404delC:p.T135fs
frameshift deletion'-'-0.
20911119148966rs387906665(chr11-119148966-TtoC)TCCBLCBL:NM_005188:exon8:c.T1186C:p.C396Rnonsynonymous SNVSO:0001583|missense_variant298230Noonan_syndrome-like_disorder_with_juvenile_myelomonocytic_leukemia
not_provided
2101144129583rs767802942(chr11-44129583-TtoA)TAEXT2EXT2:NM_000401:exon2:c.T420A:p.Y140X
EXT2:NM_001178083:exon2:c.T321A:p.Y107X
EXT2:NM_207122:exon2:c.T321A:p.Y107X
stopgain'-'-0.
2111144130743rs774168080(chr11-44130743-Gto-)G'-EXT2..'-'-0.
2121144165865rs373068341(chr11-44165865-GtoA)GAEXT2EXT2:NM_001178083:exon8:c.G1242A:p.W414Xstopgain'-'-0.
2131144165875rs746604744(chr11-44165875-CtoT)CTEXT2EXT2:NM_001178083:exon8:c.C1252T:p.Q418Xstopgain'-'-0.
2141144193294rs202153611(chr11-44193294-TtoC)TCEXT2..'-'-0.
2151144219466rs772690312(chr11-44219466-CtoT)CTEXT2EXT2:NM_000401:exon9:c.C1492T:p.R498X
EXT2:NM_207122:exon9:c.C1393T:p.R465X
EXT2:NM_001178083:exon10:c.C1423T:p.R475X
stopgainSO:0001587|nonsense5800030Multiple_exostoses_type_2
2161144219552rs757300101(chr11-44219552-Tto-)T'-EXT2EXT2:NM_000401:exon9:c.1578delT:p.N526fs
EXT2:NM_207122:exon9:c.1479delT:p.N493fs
EXT2:NM_001178083:exon10:c.1509delT:p.N503fs
frameshift deletion'-'-0.
2171144228510rs756921209(chr11-44228510-GtoC)GCEXT2..'-'-0.
2181144253902.(chr11-44253902-GtoA)GAEXT2..'-'-0.
2191144255682rs781083252(chr11-44255682-TtoA)TAEXT2EXT2:NM_000401:exon12:c.T1923A:p.Y641X
EXT2:NM_207122:exon12:c.T1824A:p.Y608X
EXT2:NM_001178083:exon13:c.T1854A:p.Y618X
stopgain'-'-0.
2201144257852rs765648513(chr11-44257852-CtoT)CTEXT2EXT2:NM_000401:exon13:c.C2044T:p.R682X
EXT2:NM_207122:exon13:c.C1945T:p.R649X
EXT2:NM_001178083:exon14:c.C1975T:p.R659X
stopgain'-'-0.
2211147238018.(chr11-47238018-CtoT)CTDDB2DDB2:NM_000107:exon2:c.C259T:p.Q87X
DDB2:NM_001300734:exon2:c.C259T:p.Q87X
stopgain'-'-0.
2221147256161rs144989465(chr11-47256161-CtoT)CTDDB2DDB2:NM_000107:exon5:c.C640T:p.R214Xstopgain'-'-0.
2231147256423rs121434640(chr11-47256423-GtoA)GADDB2DDB2:NM_000107:exon6:c.G818A:p.R273Hnonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
87880Xeroderma_pigmentosum,_group_E
2241161293430rs758528026(chr1-161293430-Cto-)C'-SDHCSDHC:NM_001035511:exon2:c.47delC:p.A16fs
SDHC:NM_001035512:exon2:c.47delC:p.A16fs
SDHC:NM_001278172:exon2:c.47delC:p.A16fs
SDHC:NM_003001:exon2:c.47delC:p.A16fs
frameshift deletion'-'-0.
2251164572613rs1060499974(chr11-64572613-GtoA)GAMEN1MEN1:NM_000244:exon9:c.C1258T:p.R420X
MEN1:NM_130799:exon9:c.C1243T:p.R415X
MEN1:NM_130800:exon9:c.C1258T:p.R420X
MEN1:NM_130801:exon9:c.C1258T:p.R420X
MEN1:NM_130802:exon9:c.C1258T:p.R420X
MEN1:NM_130803:exon9:c.C1258T:p.R420X
MEN1:NM_130804:exon10:c.C1258T:p.R420X
stopgainSO:0001587|nonsense4038020Multiple_endocrine_neoplasia,_type_1
Hereditary_cancer-predisposing_syndrome
not_provided
2261164575023.(chr11-64575023-CtoT)CTMEN1..SO:0001575|splice_donor_variant4280810Metastatic_pancreatic_neuroendocrine_tumours
Multiple_endocrine_neoplasia,_type_1
Hereditary_cancer-predisposing_syndrome
not_specified
227117349155rs876660642(chr1-17349155-Ato-)A'-SDHBSDHB:NM_003000:exon7:c.713delT:p.F238fsframeshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
228117355094rs398122805(chr1-17355094-CtoT)CTSDHB..SO:0001575|splice_donor_variant298960Pheochromocytoma
Gastrointestinal_stroma_tumor
Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Paragangliomas_4
not_specified
not_provided
229117355166.(chr1-17355166-CAATCto-)CAATC'-SDHBSDHB:NM_003000:exon4:c.348_352del:p.R116fsframeshift deletion'-'-0Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
230117371320rs74315370(chr1-17371320-GtoA)GASDHBSDHB:NM_003000:exon2:c.C136T:p.R46XstopgainSO:0001587|nonsense1427630Pheochromocytoma
Gastrointestinal_stroma_tumor
Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Paragangliomas_4
not_provided
231117371377rs74315369(chr1-17371377-GtoA)GASDHBSDHB:NM_003000:exon2:c.C79T:p.R27XstopgainSO:0001587|nonsense127830Pheochromocytoma
Gastrointestinal_stroma_tumor
Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Paragangliomas_4
not_provided
23212111856571rs202080221(chr12-111856571-GtoC)GCSH2B3SH2B3:NM_005475:exon2:c.G622C:p.E208Qnonsynonymous SNVSO:0001583|missense_variant304450Essential_thrombocythemia
23312112888157rs751437780(chr12-112888157-AtoG)AGPTPN11PTPN11:NM_001330437:exon3:c.A173G:p.N58S
PTPN11:NM_002834:exon3:c.A173G:p.N58S
PTPN11:NM_080601:exon3:c.A173G:p.N58S
nonsynonymous SNVSO:0001583|missense_variant3724830Rasopathy
not_provided
23412112924286rs121918467(chr12-112924286-CtoT)CTPTPN11PTPN11:NM_001330437:exon11:c.C1244T:p.T415M
PTPN11:NM_002834:exon11:c.C1232T:p.T411M
PTPN11:NM_080601:exon11:c.C1232T:p.T411M
nonsynonymous SNVSO:0001583|missense_variant133410Noonan_syndrome_1
23512112926852rs397507540(chr12-112926852-CtoT)CTPTPN11PTPN11:NM_001330437:exon13:c.C1484T:p.P495L
PTPN11:NM_002834:exon13:c.C1472T:p.P491L
nonsynonymous SNVSO:0001583|missense_variant405520Noonan_syndrome
Rasopathy
not_provided
23612121426835rs754728827(chr12-121426835-CtoT)CTHNF1AHNF1A:NM_000545:exon2:c.C526T:p.Q176X
HNF1A:NM_001306179:exon2:c.C526T:p.Q176X
stopgainSO:0001587|nonsense3723800not_provided
2371212870776rs756190836(chr12-12870776-GtoA)GACDKN1BCDKN1B:NM_004064:exon1:c.G3A:p.M1Inonsynonymous SNVSO:0001583|missense_variant4690240Multiple_endocrine_neoplasia,_type_4
2381212870979rs777354267(chr12-12870979-CtoT)CTCDKN1BCDKN1B:NM_004064:exon1:c.C206T:p.P69Lnonsynonymous SNVSO:0001583|missense_variant1833930Multiple_endocrine_neoplasia,_type_4
2391212874033rs763422475(chr12-12874033-CtoG)CGCDKN1B..'-'-0.
24012133202825.(chr12-133202825-CtoA)CAPOLEPOLE:NM_006231:exon46:c.G6409T:p.E2137Xstopgain'-'-0.
24112133209095rs766732521(chr12-133209095-CtoT)CTPOLE..'-'-0.
24212133209283rs757478410(chr12-133209283-GtoA)GAPOLEPOLE:NM_006231:exon44:c.C6103T:p.Q2035XstopgainSO:0001587|nonsense5775900Colorectal_cancer,_susceptibility_to,_12
24312133214656rs773148245(chr12-133214656-ACto-)AC'-POLEPOLE:NM_006231:exon41:c.5621_5622del:p.C1874fsframeshift deletion'-'-0.
24412133215783.(chr12-133215783-GtoT)GTPOLEPOLE:NM_006231:exon40:c.C5480A:p.S1827Xstopgain'-'-0.
24512133218275.(chr12-133218275-Gto-)G'-POLEPOLE:NM_006231:exon39:c.5336delC:p.P1779fsframeshift deletion'-'-0.
24612133219172rs754982151(chr12-133219172-CtoT)CTPOLEPOLE:NM_006231:exon37:c.G4872A:p.W1624XstopgainSO:0001587|nonsense4057780Hereditary_cancer-predisposing_syndrome
Colorectal_cancer,_susceptibility_to,_12
not_provided
24712133219429rs778914414(chr12-133219429-GtoA)GAPOLEPOLE:NM_006231:exon36:c.C4705T:p.Q1569Xstopgain'-'-0.
24812133219917rs760679746(chr12-133219917-CtoG)CGPOLE..'-'-0.
24912133235914rs763470055(chr12-133235914-GAGATGATGTAto-)GAGATGATGTA'-POLEPOLE:NM_006231:exon26:c.3232_3242del:p.Y1078fsframeshift deletion'-'-0.
25012133242024rs773589185(chr12-133242024-TCto-)TC'-POLEPOLE:NM_006231:exon21:c.2331_2332del:p.K777fsframeshift deletion'-'-0.
25112133249395rs762636894(chr12-133249395-CAto-)CA'-POLEPOLE:NM_006231:exon15:c.1503_1504del:p.C501fsframeshift deletion'-'-0Colorectal_cancer,_susceptibility_to,_12
25212133253134rs749117997(chr12-133253134-GtoA)GAPOLEPOLE:NM_006231:exon9:c.C907T:p.Q303XstopgainSO:0001587|nonsense4738410Colorectal_cancer,_susceptibility_to,_12
2531221624022.(chr12-21624022-TGto-)TG'-RECQLRECQL:NM_002907:exon14:c.1677_1678del:p.Y559fs
RECQL:NM_032941:exon15:c.1677_1678del:p.Y559fs
frameshift deletion'-'-0.
2541221624359rs564485792(chr12-21624359-TACTto-)TACT'-RECQLRECQL:NM_002907:exon13:c.1667_1667del:p.K556fs
RECQL:NM_032941:exon14:c.1667_1667del:p.K556fs
frameshift deletion'-'-0.
2551221624553rs370785080(chr12-21624553-GtoC)GCRECQLRECQL:NM_002907:exon13:c.C1476G:p.Y492X
RECQL:NM_032941:exon14:c.C1476G:p.Y492X
stopgain'-'-0.
2561221624566rs776151169(chr12-21624566-TTCTto-)TTCT'-RECQLRECQL:NM_002907:exon13:c.1460_1463del:p.K487fs
RECQL:NM_032941:exon14:c.1460_1463del:p.K487fs
frameshift deletion'-'-0.
2571221627774rs140319286(chr12-21627774-CtoT)CTRECQL..'-'-0.
2581221627911rs770499904(chr12-21627911-GtoA)GARECQLRECQL:NM_002907:exon11:c.C1219T:p.R407X
RECQL:NM_032941:exon12:c.C1219T:p.R407X
stopgainSO:0001587|nonsense5459990not_provided
2591221628480rs145868233(chr12-21628480-TtoA)TARECQLRECQL:NM_002907:exon10:c.A1138T:p.K380X
RECQL:NM_032941:exon11:c.A1138T:p.K380X
stopgain'-'-0.
2601221628609rs373021457(chr12-21628609-CtoT)CTRECQL..'-'-0.
2611221628708rs779556696(chr12-21628708-AACTto-)AACT'-RECQLRECQL:NM_002907:exon9:c.997_1000del:p.S333fs
RECQL:NM_032941:exon10:c.997_1000del:p.S333fs
frameshift deletion'-'-0.
2621221628743rs768075076(chr12-21628743-AAACto-)AAAC'-RECQLRECQL:NM_002907:exon9:c.962_965del:p.C321fs
RECQL:NM_032941:exon10:c.962_965del:p.C321fs
frameshift deletion'-'-0not_provided
2631221630784.(chr12-21630784-Ato-)A'-RECQLRECQL:NM_002907:exon7:c.820delT:p.C274fs
RECQL:NM_032941:exon8:c.820delT:p.C274fs
frameshift deletion'-'-0.
2641221636439rs764397488(chr12-21636439-GAto-)GA'-RECQLRECQL:NM_002907:exon6:c.570_571del:p.T190fs
RECQL:NM_032941:exon7:c.570_571del:p.T190fs
frameshift deletion'-'-0.
2651241665769rs797044974(chr1-241665769-CtoA)CAFHFH:NM_000143:exon8:c.G1210T:p.E404XstopgainSO:0001587|nonsense2083750Multiple_cutaneous_leiomyomas
2661241665840rs781466938(chr1-241665840--toT)'-TFHFH:NM_000143:exon8:c.1138dupA:p.M380fsframeshift insertion'-'-0Multiple_cutaneous_leiomyomas
Fumarase_deficiency
2671241667364rs756469140(chr1-241667364-TTCAto-)TTCA'-FHFH:NM_000143:exon7:c.1083_1086del:p.N361fsframeshift deletion'-'-0Multiple_cutaneous_leiomyomas
Hereditary_cancer-predisposing_syndrome
Fumarase_deficiency
not_provided
2681241672081rs398123166(chr1-241672081-GtoC)GCFHFH:NM_000143:exon5:c.C560G:p.S187XstopgainSO:0001587|nonsense924560Multiple_cutaneous_leiomyomas
Fumarase_deficiency
not_provided
2691241672087rs750273092(chr1-241672087-TtoA)TAFH..SO:0001574|splice_acceptor_variant3935660Multiple_cutaneous_leiomyomas
2701264410750rs781626187(chr12-64410750-AtoC)ACSRGAP1SRGAP1:NM_001346201:exon4:c.A447C:p.Q149H
SRGAP1:NM_020762:exon4:c.A447C:p.Q149H
nonsynonymous SNVSO:0001583|missense_variant2084560Follicular_thyroid_carcinoma
2711320763056rs766975999(chr13-20763056-GtoT)GTGJB2GJB2:NM_004004:exon2:c.C665A:p.S222XstopgainSO:0001587|nonsense5512420Deafness,_autosomal_recessive_1A
2721320763145rs747847191(chr13-20763145-Tto-)T'-GJB2GJB2:NM_004004:exon2:c.576delA:p.T192fsframeshift deletion'-'-0.
2731320763188rs876657693(chr13-20763188-ACAGTGTTGGGto-)ACAGTGTTGGG'-GJB2GJB2:NM_004004:exon2:c.523_533del:p.P175fsframeshift deletion'-'-0Nonsyndromic_hearing_loss_and_deafness
2741320763395rs111033253(chr13-20763395-CCCTTGATGAACTTto-)CCCTTGATGAACTT'-GJB2GJB2:NM_004004:exon2:c.313_326del:p.K105fsframeshift deletion'-'-0Hearing_impairment
Deafness,_autosomal_recessive_1A
Deafness,_autosomal_dominant_3a
Hearing_loss
Nonsyndromic_hearing_loss_and_deafness
not_specified
not_provided
2751320763421rs111033204(chr13-20763421-ATto-)AT'-GJB2GJB2:NM_004004:exon2:c.299_300del:p.H100fsframeshift deletion'-'-0Deafness,_autosomal_recessive_1A
Deafness,_autosomal_dominant_3a
Nonsyndromic_hearing_loss_and_deafness
not_provided
2761320763486rs80338943(chr13-20763486-Gto-)G'-GJB2GJB2:NM_004004:exon2:c.235delC:p.L79fsframeshift deletion'-'-0Hearing_impairment
Deafness,_autosomal_recessive_1A
Deafness,_digenic,_GJB2/GJB3
Deafness,_autosomal_dominant_3a
Hearing_loss
Nonsyndromic_hearing_loss_and_deafness
not_provided
2771320763526.(chr13-20763526-GtoT)GTGJB2GJB2:NM_004004:exon2:c.C195A:p.Y65Xstopgain'-'-0.
2781320763552rs111033297(chr13-20763552-GtoA)GAGJB2GJB2:NM_004004:exon2:c.C169T:p.Q57XstopgainSO:0001587|nonsense447250Deafness,_autosomal_recessive_1A
Hearing_loss
Nonsyndromic_hearing_loss_and_deafness
not_provided
2791320763582rs104894398(chr13-20763582-CtoA)CAGJB2GJB2:NM_004004:exon2:c.G139T:p.E47XstopgainSO:0001587|nonsense170050Hearing_impairment
Mutilating_keratoderma
Knuckle_pads,_deafness_AND_leukonychia_syndrome
Keratoderma_palmoplantar_deafness
Keratitis-ichthyosis-deafness_syndrome,_autosomal_dominant
Deafness,_X-linked_2
Hystrix-like_ichthyosis_with_deafness
Deafness,_autosomal_recessive_1A
Deafness,_autosomal_dominant_3a
Hearing_loss
Nonsyndromic_hearing_loss_and_deafness
not_provided
2801320763719rs371086981(chr13-20763719-AtoG)AGGJB2GJB2:NM_004004:exon2:c.T2C:p.M1Tnonsynonymous SNVSO:0001583|missense_variant3717810Deafness,_autosomal_recessive_1A
Deafness,_autosomal_dominant_3a
2811320763720rs111033293(chr13-20763720-TtoC)TCGJB2GJB2:NM_004004:exon2:c.A1G:p.M1Vnonsynonymous SNVSO:0001583|missense_variant447290Deafness,_autosomal_recessive_1A
Nonsyndromic_hearing_loss_and_deafness
not_specified
not_provided
2821332890599rs80358547(chr13-32890599-TtoG)TGBRCA2BRCA2:NM_000059:exon2:c.T2G:p.M1Rnonsynonymous SNVSO:0001583|missense_variant513850Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
2831332890660.(chr13-32890660-AtoG)AGBRCA2BRCA2:NM_000059:exon2:c.A63G:p.K21Ksynonymous SNVSO:0001819|synonymous_variant4389970Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
not_specified
2841332893460rs756310203(chr13-32893460-TAGGto-)TAGG'-BRCA2BRCA2:NM_000059:exon3:c.314_316del:p.105_106delnonframeshift deletion'-'-0.
2851332900752rs81002899(chr13-32900752-TtoG)TGBRCA2..SO:0001575|splice_donor_variant93490Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
not_provided
2861332903605rs80359604(chr13-32903605-TGto-)TG'-BRCA2BRCA2:NM_000059:exon8:c.657_658del:p.T219fsframeshift deletion'-'-0Medulloblastoma
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Breast-ovarian_cancer,_familial_1
Glioma_susceptibility_3
Wilms_tumor_1
Breast_and/or_ovarian_cancer
not_provided
2871332905141rs80359671(chr13-32905141-CAAATto-)CAAAT'-BRCA2BRCA2:NM_000059:exon9:c.767_771del:p.T256fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
2881332906495rs397508009(chr13-32906495-GtoT)GTBRCA2BRCA2:NM_000059:exon10:c.G880T:p.E294XstopgainSO:0001587|nonsense526830Breast-ovarian_cancer,_familial_2
not_provided
2891332906640rs80359260(chr13-32906640-Ato-)A'-BRCA2BRCA2:NM_000059:exon10:c.1025delA:p.E342fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
2901332906712rs886040345(chr13-32906712-TtoG)TGBRCA2BRCA2:NM_000059:exon10:c.T1097G:p.L366XstopgainSO:0001587|nonsense2666090Breast-ovarian_cancer,_familial_2
2911332906877rs80359273(chr13-32906877-Ato-)A'-BRCA2BRCA2:NM_000059:exon10:c.1262delA:p.Q421fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
2921332910868rs80358503(chr13-32910868-CtoA)CABRCA2BRCA2:NM_000059:exon11:c.C2376A:p.Y792XstopgainSO:0001587|nonsense512740Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
2931332911143rs80359340(chr13-32911143-CAGAto-)CAGA'-BRCA2BRCA2:NM_000059:exon11:c.2651_2654del:p.S884fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
2941332911298rs80359351(chr13-32911298-AAACto-)AAAC'-BRCA2BRCA2:NM_000059:exon11:c.2806_2809del:p.K936fsframeshift deletion'-'-0Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast-ovarian_cancer,_familial_1
Breast_and/or_ovarian_cancer
not_provided
2951332911538rs748508287(chr13-32911538-GtoT)GTBRCA2BRCA2:NM_000059:exon11:c.G3046T:p.E1016XstopgainSO:0001587|nonsense2545130Breast-ovarian_cancer,_familial_2
2961332911601rs80358557(chr13-32911601-CtoT)CTBRCA2BRCA2:NM_000059:exon11:c.C3109T:p.Q1037XstopgainSO:0001587|nonsense378190Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
2971332911678rs80359374(chr13-32911678-TCAGto-)TCAG'-BRCA2BRCA2:NM_000059:exon11:c.3186_3189del:p.P1062fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
2981332912096.(chr13-32912096-Ato-)A'-BRCA2BRCA2:NM_000059:exon11:c.3604delA:p.K1202fsframeshift deletion'-'-0.
2991332912338rs80359405(chr13-32912338-TGto-)TG'-BRCA2BRCA2:NM_000059:exon11:c.3846_3847del:p.T1282fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3001332912466rs397515636(chr13-32912466--toTGCT)'-TGCTBRCA2BRCA2:NM_000059:exon11:c.3974_3975insTGCT:p.T1325fsframeshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3011332912718rs879255450(chr13-32912718--toA)'-ABRCA2BRCA2:NM_000059:exon11:c.4227dupA:p.L1409fsframeshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3021332912900rs80359446(chr13-32912900-ATto-)AT'-BRCA2BRCA2:NM_000059:exon11:c.4408_4409del:p.I1470fsframeshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
3031332913044rs397507727(chr13-32913044-GtoT)GTBRCA2BRCA2:NM_000059:exon11:c.G4552T:p.E1518XstopgainSO:0001587|nonsense516700Breast-ovarian_cancer,_familial_2
not_provided
3041332913119rs80359461(chr13-32913119-Ato-)A'-BRCA2BRCA2:NM_000059:exon11:c.4627delA:p.K1543fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3051332913182rs786204209(chr13-32913182--toC)'-CBRCA2BRCA2:NM_000059:exon11:c.4691dupC:p.A1564fsframeshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
3061332913285rs747418290(chr13-32913285-TCAAto-)TCAA'-BRCA2BRCA2:NM_000059:exon11:c.4793_4796del:p.L1598fsframeshift deletion'-'-0Breast-ovarian_cancer,_familial_2
3071332913381rs80358711(chr13-32913381-CtoG)CGBRCA2BRCA2:NM_000059:exon11:c.C4889G:p.S1630XstopgainSO:0001587|nonsense517320Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3081332913457rs80358721(chr13-32913457-CtoG)CGBRCA2BRCA2:NM_000059:exon11:c.C4965G:p.Y1655XstopgainSO:0001587|nonsense379360Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
3091332913558rs80359480(chr13-32913558--toA)'-ABRCA2BRCA2:NM_000059:exon11:c.5067dupA:p.A1689fsframeshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3101332913604rs276174853(chr13-32913604-AATAto-)AATA'-BRCA2BRCA2:NM_000059:exon11:c.5112_5115del:p.R1704fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
3111332913620rs80359484(chr13-32913620-TATGto-)TATG'-BRCA2BRCA2:NM_000059:exon11:c.5128_5131del:p.Y1710fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast-ovarian_cancer,_familial_1
not_provided
3121332913703rs80359493(chr13-32913703-TACTto-)TACT'-BRCA2BRCA2:NM_000059:exon11:c.5211_5214del:p.D1737fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3131332913778.(chr13-32913778-TtoG)TGBRCA2BRCA2:NM_000059:exon11:c.T5286G:p.Y1762Xstopgain'-'-0.
3141332913795rs80359505(chr13-32913795-TTto-)TT'-BRCA2BRCA2:NM_000059:exon11:c.5303_5304del:p.L1768fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3151332914066rs80359520(chr13-32914066-AATTto-)AATT'-BRCA2BRCA2:NM_000059:exon11:c.5574_5577del:p.T1858fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
not_provided
3161332914349rs80358814(chr13-32914349-GtoT)GTBRCA2BRCA2:NM_000059:exon11:c.G5857T:p.E1953XstopgainSO:0001587|nonsense519520Tracheoesophageal_fistula
Medulloblastoma
Malignant_tumor_of_prostate
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Glioma_susceptibility_3
Pancreatic_cancer_2
Wilms_tumor_1
Breast_and/or_ovarian_cancer
BRCA2-Related_Disorders
not_provided
3171332914356rs80358815(chr13-32914356-CtoA)CABRCA2BRCA2:NM_000059:exon11:c.C5864A:p.S1955XstopgainSO:0001587|nonsense519540Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
Breast_and/or_ovarian_cancer
not_provided
3181332914438rs80359550(chr13-32914438-Tto-)T'-BRCA2BRCA2:NM_000059:exon11:c.5946delT:p.S1982fsframeshift deletion'-'-0Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Pancreatic_cancer_2
BRCA2-Related_Disorders
not_provided
3191332914523rs397507823(chr13-32914523-TTto-)TT'-BRCA2BRCA2:NM_000059:exon11:c.6031_6032del:p.F2011fsframeshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
3201332914529rs80358840(chr13-32914529-AtoT)ATBRCA2BRCA2:NM_000059:exon11:c.A6037T:p.K2013XstopgainSO:0001587|nonsense380160Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
3211332914767rs11571658(chr13-32914767-TTto-)TT'-BRCA2BRCA2:NM_000059:exon11:c.6275_6276del:p.L2092fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
not_provided
3221332914894rs80359584(chr13-32914894-TAACTto-)TAACT'-BRCA2BRCA2:NM_000059:exon11:c.6402_6406del:p.N2134fsframeshift deletion'-'-0Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Cancer_of_the_pancreas
Breast-ovarian_cancer,_familial_2
not_provided
3231332914974rs80359598(chr13-32914974-ACAAto-)ACAA'-BRCA2BRCA2:NM_000059:exon11:c.6482_6485del:p.D2161fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3241332915134rs80359614(chr13-32915134-Tto-)T'-BRCA2BRCA2:NM_000059:exon11:c.6642delT:p.T2214fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
not_provided
3251332915136rs80359616(chr13-32915136-ACTCto-)ACTC'-BRCA2BRCA2:NM_000059:exon11:c.6644_6647del:p.Y2215fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
3261332918791rs886040935(chr13-32918791-GtoA)GABRCA2..SO:0001575|splice_donor_variant2676650Breast-ovarian_cancer,_familial_2
3271332920968rs80359629(chr13-32920968-AATAto-)AATA'-BRCA2BRCA2:NM_000059:exon13:c.6942_6945del:p.T2314fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3281332921023rs754611265(chr13-32921023--toT)'-TBRCA2BRCA2:NM_000059:exon13:c.6998dupT:p.V2333fsframeshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3291332929170rs80358946(chr13-32929170-AtoT)ATBRCA2BRCA2:NM_000059:exon14:c.A7180T:p.R2394XstopgainSO:0001587|nonsense522790Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
3301332929426rs770042748(chr13-32929426-GtoC)GCBRCA2..SO:0001575|splice_donor_variant2676780Breast-ovarian_cancer,_familial_2
3311332930609rs80358972(chr13-32930609-CtoT)CTBRCA2BRCA2:NM_000059:exon15:c.C7480T:p.R2494XstopgainSO:0001587|nonsense380990Tracheoesophageal_fistula
Medulloblastoma
Malignant_tumor_of_prostate
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Glioma_susceptibility_3
Pancreatic_cancer_2
Wilms_tumor_1
not_provided
3321332930687rs80358981(chr13-32930687-CtoT)CTBRCA2BRCA2:NM_000059:exon15:c.C7558T:p.R2520XstopgainSO:0001587|nonsense523530Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
3331332931944rs766251541(chr13-32931944-GTto-)GT'-BRCA2BRCA2:NM_000059:exon16:c.7683_7684del:p.Q2561fsframeshift deletion'-'-0Breast-ovarian_cancer,_familial_2
3341332936732rs80359013(chr13-32936732-GtoC)GCBRCA2BRCA2:NM_000059:exon17:c.G7878C:p.W2626Cnonsynonymous SNVSO:0001583|missense_variant381250Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3351332937541rs397507968(chr13-32937541--toC)'-CBRCA2BRCA2:NM_000059:exon18:c.8203dupC:p.P2734fsframeshift insertion'-'-0Breast-ovarian_cancer,_familial_2
3361332945092rs397507404(chr13-32945092-GtoA)GABRCA2..SO:0001574|splice_acceptor_variant381640Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
not_provided
3371332945138rs80359714(chr13-32945138-AGto-)AG'-BRCA2BRCA2:NM_000059:exon20:c.8533_8534del:p.R2845fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
not_provided
3381332953929.(chr13-32953929-TGto-)TG'-BRCA2BRCA2:NM_000059:exon23:c.8996_8997del:p.L2999fsframeshift deletion'-'-0.
3391332953958rs80359741(chr13-32953958-TATCAto-)TATCA'-BRCA2BRCA2:NM_000059:exon23:c.9025_9029del:p.Y3009fsframeshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3401332953996rs397508032(chr13-32953996-AAGAGCTAACATACAGto-)AAGAGCTAACATACAG'-BRCA2BRCA2:NM_000059:exon23:c.9063_9078del:p.E3021fsframeshift deletion'-'-0Breast-ovarian_cancer,_familial_2
3411332954222rs80359180(chr13-32954222-CtoT)CTBRCA2BRCA2:NM_000059:exon24:c.C9196T:p.Q3066XstopgainSO:0001587|nonsense93470Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_D1
Breast-ovarian_cancer,_familial_2
Breast-ovarian_cancer,_familial_1
not_provided
3421332954272rs80359752(chr13-32954272--toA)'-ABRCA2BRCA2:NM_000059:exon24:c.9247dupA:p.V3082fsframeshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_provided
3431332968854rs778782209(chr13-32968854--toG)'-GBRCA2BRCA2:NM_000059:exon25:c.9286dupG:p.D3095fsframeshift insertion'-'-0Breast-ovarian_cancer,_familial_2
3441332968863rs80359200(chr13-32968863-CtoG)CGBRCA2BRCA2:NM_000059:exon25:c.C9294G:p.Y3098XstopgainSO:0001587|nonsense382290Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast-ovarian_cancer,_familial_1
not_provided
3451332968951rs80359212(chr13-32968951-CtoT)CTBRCA2BRCA2:NM_000059:exon25:c.C9382T:p.R3128XstopgainSO:0001587|nonsense528260Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
Breast_and/or_ovarian_cancer
not_provided
3461332972800rs397507568(chr13-32972800-CtoT)CTBRCA2BRCA2:NM_000059:exon27:c.C10150T:p.R3384XstopgainSO:0001587|nonsense510490Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Cancer_of_the_pancreas
Breast-ovarian_cancer,_familial_2
not_specified
3471332972824rs80359258(chr13-32972824-Ato-)A'-BRCA2BRCA2:NM_000059:exon27:c.10174delA:p.K3392fsframeshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_2
not_specified
not_provided
3481348942673rs764547244(chr13-48942673-CtoT)CTRB1RB1:NM_000321:exon11:c.C1060T:p.Q354Xstopgain'-'-0.
3491445605517rs780391120(chr14-45605517-CtoT)CTFANCMFANCM:NM_001308133:exon1:c.C283T:p.Q95X
FANCM:NM_001308134:exon1:c.C283T:p.Q95X
FANCM:NM_020937:exon1:c.C283T:p.Q95X
stopgain'-'-0.
3501445605561rs776565420(chr14-45605561--toTGTC)'-TGTCFANCMFANCM:NM_001308133:exon1:c.327_328insTGTC:p.V109fs
FANCM:NM_001308134:exon1:c.327_328insTGTC:p.V109fs
FANCM:NM_020937:exon1:c.327_328insTGTC:p.V109fs
frameshift insertion'-'-0.
3511445606400.(chr14-45606400--toT)'-TFANCMFANCM:NM_001308133:exon2:c.638dupT:p.I213fs
FANCM:NM_001308134:exon2:c.638dupT:p.I213fs
FANCM:NM_020937:exon2:c.638dupT:p.I213fs
frameshift insertion'-'-0.
3521445623965.(chr14-45623965-GtoT)GTFANCMFANCM:NM_001308133:exon6:c.G1171T:p.E391X
FANCM:NM_001308134:exon7:c.G1249T:p.E417X
FANCM:NM_020937:exon7:c.G1249T:p.E417X
stopgain'-'-0.
3531445628392rs797045116(chr14-45628392--toA)'-AFANCMFANCM:NM_001308133:exon8:c.1413dupA:p.S471fs
FANCM:NM_001308134:exon9:c.1491dupA:p.S497fs
FANCM:NM_020937:exon9:c.1491dupA:p.S497fs
frameshift insertion'-'-0SPERMATOGENIC_FAILURE_28
not_provided
3541445628408rs764743944(chr14-45628408--toTA)'-TAFANCMFANCM:NM_001308133:exon8:c.1428_1429insTA:p.I476fs
FANCM:NM_001308134:exon9:c.1506_1507insTA:p.I502fs
FANCM:NM_020937:exon9:c.1506_1507insTA:p.I502fs
frameshift insertion'-'-0.
3551445636162rs778744393(chr14-45636162-CtoT)CTFANCMFANCM:NM_001308133:exon10:c.C1720T:p.Q574X
FANCM:NM_001308134:exon11:c.C1798T:p.Q600X
FANCM:NM_020937:exon11:c.C1798T:p.Q600X
stopgain'-'-0.
3561445644540rs768006618(chr14-45644540-AAAAto-)AAAA'-FANCMFANCM:NM_001308133:exon13:c.2505_2508del:p.I835fs
FANCM:NM_020937:exon14:c.2583_2586del:p.I861fs
frameshift deletion'-'-0not_provided
3571445645045rs759378949(chr14-45645045-CtoT)CTFANCMFANCM:NM_001308133:exon13:c.C3010T:p.R1004X
FANCM:NM_020937:exon14:c.C3088T:p.R1030X
stopgain'-'-0.
3581445650692.(chr14-45650692-Ato-)A'-FANCMFANCM:NM_001308133:exon14:c.4204delA:p.K1402fs
FANCM:NM_020937:exon15:c.4282delA:p.K1428fs
frameshift deletion'-'-0.
3591445654441rs770547965(chr14-45654441-Gto-)G'-FANCMFANCM:NM_001308133:exon17:c.4459delG:p.D1487fs
FANCM:NM_020937:exon18:c.4537delG:p.D1513fs
frameshift deletion'-'-0.
3601445658445rs758498345(chr14-45658445--toA)'-AFANCMFANCM:NM_001308133:exon19:c.5143dupA:p.D1714fs
FANCM:NM_020937:exon20:c.5221dupA:p.D1740fs
frameshift insertion'-'-0.
3611445658566rs754297345(chr14-45658566-GtoT)GTFANCM..'-'-0.
3621445665564rs778451008(chr14-45665564-Cto-)C'-FANCMFANCM:NM_001308133:exon20:c.5452delC:p.Q1818fs
FANCM:NM_020937:exon21:c.5530delC:p.Q1844fs
frameshift deletion'-'-0.
3631445667894.(chr14-45667894-Cto-)C'-FANCMFANCM:NM_001308133:exon21:c.5686delC:p.L1896X
FANCM:NM_020937:exon22:c.5764delC:p.L1922X
stopgain'-'-0.
364145479335rs397514765(chr1-45479335-CtoT)CTURODUROD:NM_000374:exon5:c.C346T:p.Q116XstopgainSO:0001587|nonsense646790Porphyria_cutanea_tarda
365145479386rs759934980(chr1-45479386-TAto-)TA'-URODUROD:NM_000374:exon5:c.397_398del:p.Y133fsframeshift deletion'-'-0.
366145479457rs753220529(chr1-45479457--toG)'-GURODUROD:NM_000374:exon5:c.469dupG:p.G156fsframeshift insertion'-'-0.
367145479743rs145195562(chr1-45479743-GtoC)GCUROD..SO:0001575|splice_donor_variant670Familial_porphyria_cutanea_tarda
368145480648rs121918065(chr1-45480648-CtoA)CAURODUROD:NM_000374:exon9:c.C912A:p.N304Knonsynonymous SNVSO:0001583|missense_variant750Familial_porphyria_cutanea_tarda
369145481159rs753192121(chr1-45481159-CtoT)CTURODUROD:NM_000374:exon10:c.C1093T:p.R365Xstopgain'-'-0.
370145797186rs587780078(chr1-45797186--toCC)'-CCMUTYHMUTYH:NM_001350650:exon12:c.799_800insGG:p.E267fs
MUTYH:NM_001350651:exon12:c.799_800insGG:p.E267fs
MUTYH:NM_001048171:exon13:c.1186_1187insGG:p.E396fs
MUTYH:NM_001048172:exon13:c.1147_1148insGG:p.E383fs
MUTYH:NM_001048173:exon13:c.1144_1145insGG:p.E382fs
MUTYH:NM_001048174:exon13:c.1144_1145insGG:p.E382fs
MUTYH:NM_001128425:exon13:c.1228_1229insGG:p.E410fs
MUTYH:NM_001293190:exon13:c.1189_1190insGG:p.E397fs
MUTYH:NM_001293191:exon13:c.1177_1178insGG:p.E393fs
MUTYH:NM_001293192:exon13:c.868_869insGG:p.E290fs
MUTYH:NM_001293196:exon13:c.868_869insGG:p.E290fs
MUTYH:NM_012222:exon13:c.1219_1220insGG:p.E407fs
MUTYH:NM_001293195:exon14:c.1144_1145insGG:p.E382fs
frameshift insertion'-'-0Hereditary_cancer-predisposing_syndrome
Carcinoma_of_colon
MYH-associated_polyposis
MUTYH-associated_polyposis
not_provided
371145798117rs140342925(chr1-45798117-CtoT)CTMUTYHMUTYH:NM_001350650:exon8:c.G305A:p.R102H
MUTYH:NM_001350651:exon8:c.G305A:p.R102H
MUTYH:NM_001048171:exon9:c.G692A:p.R231H
MUTYH:NM_001048172:exon9:c.G653A:p.R218H
MUTYH:NM_001048173:exon9:c.G650A:p.R217H
MUTYH:NM_001048174:exon9:c.G650A:p.R217H
MUTYH:NM_001128425:exon9:c.G734A:p.R245H
MUTYH:NM_001293190:exon9:c.G695A:p.R232H
MUTYH:NM_001293191:exon9:c.G683A:p.R228H
MUTYH:NM_001293192:exon9:c.G374A:p.R125H
MUTYH:NM_001293196:exon9:c.G374A:p.R125H
MUTYH:NM_012222:exon9:c.G725A:p.R242H
MUTYH:NM_001293195:exon10:c.G650A:p.R217H
nonsynonymous SNVSO:0001583|missense_variant1408770Neoplasm_of_stomach
Pilomatrixoma
Hereditary_cancer-predisposing_syndrome
MYH-associated_polyposis
not_provided
372145800165rs587780088(chr1-45800165-GtoA)GAMUTYHMUTYH:NM_001048171:exon2:c.C55T:p.R19X
MUTYH:NM_001048172:exon2:c.C13T:p.R5X
MUTYH:NM_001048173:exon2:c.C13T:p.R5X
MUTYH:NM_001048174:exon2:c.C13T:p.R5X
MUTYH:NM_001128425:exon2:c.C55T:p.R19X
MUTYH:NM_001293190:exon2:c.C55T:p.R19X
MUTYH:NM_001293191:exon2:c.C13T:p.R5X
MUTYH:NM_012222:exon2:c.C55T:p.R19X
MUTYH:NM_001293195:exon3:c.C13T:p.R5X
stopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
1278450Hereditary_cancer-predisposing_syndrome
Carcinoma_of_colon
MYH-associated_polyposis
not_provided
3731465472961rs143291877(chr14-65472961-AtoG)AGMAXMAX:NM_001271069:exon3:c.T186C:p.Y62Y
MAX:NM_197957:exon4:c.T213C:p.Y71Y
synonymous SNV'-'-0.
3741465544703rs387906650(chr14-65544703-GtoA)GAMAXMAX:NM_145112:exon3:c.C196T:p.R66X
MAX:NM_002382:exon4:c.C223T:p.R75X
MAX:NM_145113:exon4:c.C223T:p.R75X
stopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
SO:0001627|intron_variant
297860Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
Pheochromocytoma,_susceptibility_to
3751465551008rs756875895(chr14-65551008-Gto-)G'-MAXMAX:NM_001271068:exon3:c.154delC:p.L52fs
MAX:NM_145114:exon4:c.181delC:p.L61fs
frameshift deletion'-'-0.
3761465551019rs746638580(chr14-65551019-TtoA)TAMAX..'-'-0.
3771465569036rs752477890(chr14-65569036-CtoA)CAMAXMAX:NM_001271068:exon1:c.G22T:p.E8X
MAX:NM_001271069:exon1:c.G22T:p.E8X
MAX:NM_002382:exon1:c.G22T:p.E8X
MAX:NM_145112:exon1:c.G22T:p.E8X
MAX:NM_145113:exon1:c.G22T:p.E8X
MAX:NM_145114:exon1:c.G22T:p.E8X
MAX:NM_197957:exon1:c.G22T:p.E8X
stopgain'-'-0.
3781494849023rs199422210(chr14-94849023-GtoA)GASERPINA1SERPINA1:NM_000295:exon2:c.C552T:p.Y184Y
SERPINA1:NM_001002235:exon2:c.C552T:p.Y184Y
SERPINA1:NM_001127700:exon2:c.C552T:p.Y184Y
SERPINA1:NM_001127702:exon3:c.C552T:p.Y184Y
SERPINA1:NM_001127706:exon3:c.C552T:p.Y184Y
SERPINA1:NM_001127707:exon3:c.C552T:p.Y184Y
SERPINA1:NM_001002236:exon4:c.C552T:p.Y184Y
SERPINA1:NM_001127701:exon4:c.C552T:p.Y184Y
SERPINA1:NM_001127703:exon4:c.C552T:p.Y184Y
SERPINA1:NM_001127704:exon4:c.C552T:p.Y184Y
SERPINA1:NM_001127705:exon4:c.C552T:p.Y184Y
synonymous SNVSO:0001819|synonymous_variant2909790not_provided
3791495566116rs765059994(chr14-95566116-CtoG)CGDICER1..'-'-0.
3801495582919rs767030430(chr14-95582919-TtoG)TGDICER1DICER1:NM_001195573:exon9:c.A1623C:p.T541T
DICER1:NM_001271282:exon10:c.A1623C:p.T541T
DICER1:NM_001291628:exon10:c.A1623C:p.T541T
DICER1:NM_177438:exon10:c.A1623C:p.T541T
DICER1:NM_030621:exon12:c.A1623C:p.T541T
synonymous SNV'-'-0.
3811540504844rs28989181(chr15-40504844-CtoT)CTBUB1BBUB1B:NM_001211:exon19:c.C2530T:p.L844Fnonsynonymous SNVSO:0001583|missense_variant67610Premature_chromatid_separation_trait
Mosaic_variegated_aneuploidy_syndrome_1
3821540509781rs28989183(chr15-40509781-GtoC)GCBUB1BBUB1B:NM_001211:exon21:c.G2763C:p.Q921Hnonsynonymous SNVSO:0001583|missense_variant67620Mosaic_variegated_aneuploidy_syndrome
Premature_chromatid_separation_trait
Mosaic_variegated_aneuploidy_syndrome_1
3831540512842rs28989185(chr15-40512842-TtoC)TCBUB1BBUB1B:NM_001211:exon23:c.T3035C:p.L1012Pnonsynonymous SNVSO:0001583|missense_variant67650Premature_chromatid_separation_trait
Mosaic_variegated_aneuploidy_syndrome_1
3841580460605rs80338895(chr15-80460605-GtoT)GTFAH..SO:0001574|splice_acceptor_variant118740Hypertyrosinemia
Tyrosinemia_type_I
not_provided
3851580465431rs80338898(chr15-80465431-CtoT)CTFAHFAH:NM_000137:exon9:c.C782T:p.P261Lnonsynonymous SNVSO:0001583|missense_variant210580Tyrosinemia_type_I
not_provided
3861580472514rs80338900(chr15-80472514-GtoA)GAFAHFAH:NM_000137:exon12:c.G1009A:p.G337Snonsynonymous SNVSO:0001583|missense_variant118690Tyrosinemia_type_I
3871580473390rs121965075(chr15-80473390-GtoT)GTFAHFAH:NM_000137:exon13:c.G1069T:p.E357XstopgainSO:0001587|nonsense118710Tyrosinemia_type_I
3881580473411rs121965076(chr15-80473411-GtoT)GTFAHFAH:NM_000137:exon13:c.G1090T:p.E364XstopgainSO:0001587|nonsense118670Tyrosinemia_type_I
3891589858549rs121918164(chr15-89858549-CtoT)CTFANCIFANCI:NM_018193:exon36:c.C3673T:p.R1225X
FANCI:NM_001113378:exon37:c.C3853T:p.R1285X
stopgainSO:0001587|nonsense9730Fanconi_anemia,_complementation_group_I
not_provided
3901591304245rs200389141(chr15-91304245-CtoT)CTBLMBLM:NM_000057:exon7:c.C1642T:p.Q548X
BLM:NM_001287247:exon7:c.C1642T:p.Q548X
BLM:NM_001287248:exon7:c.C517T:p.Q173X
BLM:NM_001287246:exon8:c.C1642T:p.Q548X
stopgainSO:0001587|nonsense1274780Bloom_syndrome
Hereditary_cancer-predisposing_syndrome
not_provided
3911591308549rs367543028(chr15-91308549-CtoT)CTBLMBLM:NM_000057:exon9:c.C2098T:p.Q700X
BLM:NM_001287247:exon9:c.C2098T:p.Q700X
BLM:NM_001287248:exon9:c.C973T:p.Q325X
BLM:NM_001287246:exon10:c.C2098T:p.Q700X
stopgainSO:0001587|nonsense420670Bloom_syndrome
not_provided
3921591312767rs367543024(chr15-91312767-AGto-)AG'-BLMBLM:NM_000057:exon12:c.2506_2507del:p.R836fs
BLM:NM_001287247:exon12:c.2506_2507del:p.R836fs
BLM:NM_001287248:exon12:c.1381_1382del:p.R461fs
BLM:NM_001287246:exon13:c.2506_2507del:p.R836fs
frameshift deletion'-'-0Bloom_syndrome
Hereditary_cancer-predisposing_syndrome
3931591326139rs367543039(chr15-91326139-GtoA)GABLMBLM:NM_000057:exon13:c.G2643A:p.W881X
BLM:NM_001287247:exon13:c.G2643A:p.W881X
BLM:NM_001287248:exon13:c.G1518A:p.W506X
BLM:NM_001287246:exon14:c.G2643A:p.W881X
stopgainSO:0001587|nonsense420720Bloom_syndrome
3941591328183rs587779884(chr15-91328183-CtoT)CTBLMBLM:NM_000057:exon14:c.C2695T:p.R899X
BLM:NM_001287247:exon14:c.C2695T:p.R899X
BLM:NM_001287248:exon14:c.C1570T:p.R524X
BLM:NM_001287246:exon15:c.C2695T:p.R899X
stopgainSO:0001587|nonsense1274910Bloom_syndrome
not_provided
3951591333910rs367543034(chr15-91333910-GtoT)GTBLMBLM:NM_000057:exon15:c.G2855T:p.G952V
BLM:NM_001287247:exon15:c.G2855T:p.G952V
BLM:NM_001287248:exon15:c.G1730T:p.G577V
BLM:NM_001287246:exon16:c.G2855T:p.G952V
nonsynonymous SNVSO:0001583|missense_variant420740Bloom_syndrome
3961591346807rs587783037(chr15-91346807-CtoT)CTBLMBLM:NM_000057:exon18:c.C3415T:p.R1139X
BLM:NM_001287248:exon18:c.C2290T:p.R764X
BLM:NM_001287246:exon19:c.C3415T:p.R1139X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
1564840Bloom_syndrome
3971614041518rs149364215(chr16-14041518-CtoA)CAERCC4ERCC4:NM_005236:exon11:c.C2065A:p.R689Snonsynonymous SNVSO:0001583|missense_variant558240Fanconi_anemia,_complementation_group_Q
398162100410rs140618379(chr16-2100410-AtoG)AGTSC2TSC2:NM_001318829:exon2:c.A1G:p.M1V
TSC2:NM_000548:exon3:c.A148G:p.M50V
TSC2:NM_001077183:exon3:c.A148G:p.M50V
TSC2:NM_001114382:exon3:c.A148G:p.M50V
TSC2:NM_001318827:exon3:c.A148G:p.M50V
TSC2:NM_001318832:exon3:c.A181G:p.M61V
nonsynonymous SNVSO:0001583|missense_variant
SO:0001623|5_prime_UTR_variant
2379660Tuberous_sclerosis_2
not_specified
not_provided
399162137941.(chr16-2137941--toGGTAG)'-GGTAGTSC2TSC2:NM_001318831:exon35:c.4335_4336insGGTAG:p.K1445fs
TSC2:NM_001318827:exon36:c.4758_4759insGGTAG:p.K1586fs
TSC2:NM_001318829:exon36:c.4722_4723insGGTAG:p.K1574fs
TSC2:NM_001077183:exon37:c.4866_4867insGGTAG:p.K1622fs
TSC2:NM_001318832:exon37:c.4899_4900insGGTAG:p.K1633fs
TSC2:NM_001114382:exon38:c.4998_4999insGGTAG:p.K1666fs
TSC2:NM_000548:exon39:c.5067_5068insGGTAG:p.K1689fs
frameshift insertion'-'-0.
4001623614792rs118203998(chr16-23614792-GtoC)GCPALB2PALB2:NM_024675:exon13:c.C3549G:p.Y1183XstopgainSO:0001587|nonsense12450Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_N
Pancreatic_cancer_3
Breast_cancer,_susceptibility_to
not_specified
not_provided
4011623632683rs180177132(chr16-23632683-CtoT)CTPALB2PALB2:NM_024675:exon10:c.G3113A:p.W1038XstopgainSO:0001587|nonsense1267110Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast_cancer,_susceptibility_to
not_provided
4021623632748rs515726104(chr16-23632748-Ato-)A'-PALB2PALB2:NM_024675:exon10:c.3048delT:p.F1016fsframeshift deletion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4031623632800rs754465466(chr16-23632800-CtoG)CGPALB2..'-'-0.
4041623640545rs770996884(chr16-23640545-GtoA)GAPALB2PALB2:NM_024675:exon6:c.C2566T:p.Q856Xstopgain'-'-0.
4051623641218rs180177110(chr16-23641218-GtoA)GAPALB2PALB2:NM_024675:exon5:c.C2257T:p.R753XstopgainSO:0001587|nonsense1424030Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4061623641423rs587782680(chr16-23641423-Gto-)G'-PALB2PALB2:NM_024675:exon5:c.2052delC:p.P684fsframeshift deletion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4071623646388rs515726071(chr16-23646388-Gto-)G'-PALB2PALB2:NM_024675:exon4:c.1479delC:p.P493fsframeshift deletion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4081623647108rs515726126(chr16-23647108--toA)'-APALB2PALB2:NM_024675:exon4:c.758dupT:p.L253fsframeshift insertion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4091623647268rs587782081(chr16-23647268-Ato-)A'-PALB2PALB2:NM_024675:exon4:c.599delT:p.L200Xstopgain'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4101623647357rs515726123(chr16-23647357-TCto-)TC'-PALB2PALB2:NM_024675:exon4:c.509_510del:p.R170fsframeshift deletion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Pancreatic_cancer_3
PALB2-Related_Disorders
not_provided
4111623647379rs745533713(chr16-23647379-ACto-)AC'-PALB2PALB2:NM_024675:exon4:c.487_488del:p.V163fsframeshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
not_provided
4121623647443rs587782005(chr16-23647443-TtoA)TAPALB2PALB2:NM_024675:exon4:c.A424T:p.K142XstopgainSO:0001587|nonsense1417790Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4131623649207rs180177143(chr16-23649207-ACAAto-)ACAA'-PALB2PALB2:NM_024675:exon3:c.172_175del:p.L58fsframeshift deletion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Pancreatic_cancer_3
not_provided
4141623649415rs761533286(chr16-23649415-GtoA)GAPALB2PALB2:NM_024675:exon2:c.C84T:p.Y28Ysynonymous SNVSO:0001819|synonymous_variant1848200Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
4151623649420rs878855122(chr16-23649420-CtoA)CAPALB2PALB2:NM_024675:exon2:c.G79T:p.E27XstopgainSO:0001587|nonsense2415700Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
4161623652477rs756519825(chr16-23652477-AtoG)AGPALB2PALB2:NM_024675:exon1:c.T2C:p.M1Tnonsynonymous SNVSO:0001583|missense_variant2415580Familial_cancer_of_breast
4171650785560rs758217895(chr16-50785560-AtoT)ATCYLDCYLD:NM_001042355:exon4:c.A550T:p.K184X
CYLD:NM_001042412:exon4:c.A550T:p.K184X
CYLD:NM_015247:exon5:c.A550T:p.K184X
stopgain'-'-0.
4181668846167rs876660771(chr16-68846167-GtoA)GACDH1..SO:0001575|splice_donor_variant2339790Hereditary_cancer-predisposing_syndrome
Hereditary_diffuse_gastric_cancer
not_provided
4191668847225rs587782798(chr16-68847225-CtoT)CTCDH1CDH1:NM_004360:exon9:c.C1147T:p.Q383XstopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
SO:0001627|intron_variant
1428880Hereditary_cancer-predisposing_syndrome
4201668847452rs760960409(chr16-68847452--toC)'-CCDH1..'-'-0.
4211668847459rs768365828(chr16-68847459--toC)'-CCDH1..'-'-0.
4221689833593rs752160950(chr16-89833593-GtoA)GAFANCAFANCA:NM_000135:exon27:c.C2557T:p.R853X
FANCA:NM_001286167:exon27:c.C2557T:p.R853X
stopgainSO:0001587|nonsense1923840Fanconi_anemia
Fanconi_anemia,_complementation_group_A
4231689858442rs397507552(chr16-89858442-CCAAto-)CCAA'-FANCAFANCA:NM_000135:exon13:c.1115_1118del:p.V372fs
FANCA:NM_001286167:exon13:c.1115_1118del:p.V372fs
frameshift deletion'-'-0Fanconi_anemia
Fanconi_anemia,_complementation_group_A
4241729497016.(chr17-29497016-GtoT)GTNF1..'-'-0.
4251729509663.(chr17-29509663-GATGAAAACAACAto-)GATGAAAACAACA'-NF1NF1:NM_000267:exon8:c.868_880del:p.D290fs
NF1:NM_001042492:exon8:c.868_880del:p.D290fs
NF1:NM_001128147:exon8:c.868_880del:p.D290fs
frameshift deletion'-'-0.
4261729533315rs778405030(chr17-29533315-CtoT)CTNF1NF1:NM_000267:exon12:c.C1318T:p.R440X
NF1:NM_001042492:exon12:c.C1318T:p.R440X
NF1:NM_001128147:exon12:c.C1318T:p.R440X
stopgainSO:0001587|nonsense2306730Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4271729541542rs137854557(chr17-29541542-AtoG)AGNF1NF1:NM_000267:exon13:c.A1466G:p.Y489C
NF1:NM_001042492:exon13:c.A1466G:p.Y489C
NF1:NM_001128147:exon13:c.A1466G:p.Y489C
nonsynonymous SNVSO:0001583|missense_variant3540Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4281729550494rs786202782(chr17-29550494-TAACto-)TAAC'-NF1NF1:NM_000267:exon16:c.1754_1757del:p.L585fs
NF1:NM_001042492:exon16:c.1754_1757del:p.L585fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4291729550587.(chr17-29550587-TtoG)TGNF1..'-'-0.
4301729553474rs779546178(chr17-29553474-GtoT)GTNF1NF1:NM_000267:exon18:c.G2023T:p.G675X
NF1:NM_001042492:exon18:c.G2023T:p.G675X
stopgain'-'-0.
4311729562981rs376576925(chr17-29562981-CtoT)CTNF1NF1:NM_000267:exon29:c.C3916T:p.R1306X
NF1:NM_001042492:exon29:c.C3916T:p.R1306X
stopgainSO:0001587|nonsense4045920Neurofibromatosis,_type_1
not_provided
4321729576111rs137854560(chr17-29576111-CtoT)CTNF1NF1:NM_000267:exon30:c.C4084T:p.R1362X
NF1:NM_001042492:exon30:c.C4084T:p.R1362X
stopgainSO:0001587|nonsense3440Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4331729585518rs137854550(chr17-29585518-AtoG)AGNF1NF1:NM_000267:exon31:c.A4267G:p.K1423E
NF1:NM_001042492:exon32:c.A4330G:p.K1444E
nonsynonymous SNVSO:0001583|missense_variant3360Axillary_freckling
Neurofibromas
Multiple_cafe-au-lait_spots
Optic_nerve_glioma
Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4341729588751rs760703505(chr17-29588751-CtoT)CTNF1NF1:NM_000267:exon34:c.C4537T:p.R1513X
NF1:NM_001042492:exon35:c.C4600T:p.R1534X
stopgainSO:0001587|nonsense2201520Thoracic_scoliosis
Multiple_cafe-au-lait_spots
Subcutaneous_neurofibromas
Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4351729588760.(chr17-29588760--toA)'-ANF1NF1:NM_000267:exon34:c.4547dupA:p.D1516fs
NF1:NM_001042492:exon35:c.4610dupA:p.D1537fs
frameshift insertion'-'-0.
4361729653269rs773428383(chr17-29653269-AAGTto-)AAGT'-NF1NF1:NM_000267:exon36:c.5204_5205del:p.K1735fs
NF1:NM_001042492:exon37:c.5267_5268del:p.K1756fs
frameshift deletion'-'-0.
4371729657397.(chr17-29657397-TtoG)TGNF1NF1:NM_000267:exon38:c.T5630G:p.L1877X
NF1:NM_001042492:exon39:c.T5693G:p.L1898X
stopgain'-'-0.
4381729663741.(chr17-29663741-Cto-)C'-NF1NF1:NM_000267:exon41:c.6173delC:p.A2058fs
NF1:NM_001042492:exon42:c.6236delC:p.A2079fs
frameshift deletion'-'-0.
4391729665757rs772295894(chr17-29665757-CtoG)CGNF1NF1:NM_000267:exon45:c.C6792G:p.Y2264X
NF1:NM_001042492:exon46:c.C6855G:p.Y2285X
stopgainSO:0001587|nonsense4399730Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4401729677227rs786202457(chr17-29677227-CtoT)CTNF1NF1:NM_000267:exon49:c.C7285T:p.R2429X
NF1:NM_001042492:exon50:c.C7348T:p.R2450X
stopgainSO:0001587|nonsense1857890Lisch_nodules
Subcutaneous_neurofibromas
Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
not_provided
4411729701148rs587781523(chr17-29701148-GtoA)GANF1NF1:NM_000267:exon57:c.G8432A:p.R2811H
NF1:NM_001042492:exon58:c.G8495A:p.R2832H
nonsynonymous SNVSO:0001583|missense_variant1411390Hereditary_cancer-predisposing_syndrome
Neurofibromatosis,_type_1
4421733434045rs773906955(chr17-33434045-GtoA)GARAD51DRAD51D:NM_001142571:exon5:c.C502T:p.Q168X
RAD51D:NM_002878:exon5:c.C442T:p.Q148X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
2319720Hereditary_cancer-predisposing_syndrome
not_provided
4431733443985rs749021705(chr17-33443985-CtoG)CGRAD51DRAD51D:NM_001142571:exon3:c.G216C:p.W72Cnonsynonymous SNV'-'-0.
4441733445581rs775045445(chr17-33445581-CtoT)CTRAD51DRAD51D:NM_002878:exon3:c.G202A:p.G68Snonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
4105480Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_4
4451733445585rs200810304(chr17-33445585-CtoA)CARAD51DRAD51D:NM_002878:exon3:c.G198T:p.V66Vsynonymous SNVSO:0001627|intron_variant
SO:0001819|synonymous_variant
1844960Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_4
not_specified
4461733446143rs374730714(chr17-33446143-CtoT)CTRAD51DRAD51D:NM_001142571:exon2:c.G131A:p.G44D
RAD51D:NM_002878:exon2:c.G131A:p.G44D
RAD51D:NM_133629:exon2:c.G131A:p.G44D
nonsynonymous SNVSO:0001583|missense_variant1849240Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_4
not_provided
4471738798806rs142279746(chr17-38798806-CtoA)CASMARCE1SMARCE1:NM_003079:exon4:c.G57T:p.M19Inonsynonymous SNVSO:0001583|missense_variant4070670Meningioma,_familial
4481741199682rs397509284(chr17-41199682-CtoT)CTBRCA1BRCA1:NM_007297:exon21:c.G5304A:p.W1768X
BRCA1:NM_007298:exon21:c.G2133A:p.W711X
BRCA1:NM_007294:exon22:c.G5445A:p.W1815X
BRCA1:NM_007300:exon23:c.G5508A:p.W1836X
stopgainSO:0001583|missense_variant
SO:0001587|nonsense
555810Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
4491741201181rs80357069(chr17-41201181-CtoA)CABRCA1BRCA1:NM_007297:exon20:c.G5222T:p.G1741V
BRCA1:NM_007298:exon20:c.G2051T:p.G684V
BRCA1:NM_007294:exon21:c.G5363T:p.G1788V
BRCA1:NM_007300:exon22:c.G5426T:p.G1809V
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
376600Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4501741201209rs80357590(chr17-41201209-Gto-)G'-BRCA1BRCA1:NM_007297:exon20:c.5194delC:p.Q1732fs
BRCA1:NM_007298:exon20:c.2023delC:p.Q675fs
BRCA1:NM_007294:exon21:c.5335delC:p.Q1779fs
BRCA1:NM_007300:exon22:c.5398delC:p.Q1800fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4511741203135rs80358099(chr17-41203135-CtoA)CABRCA1..SO:0001574|splice_acceptor_variant555020Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4521741209072rs758739620(chr17-41209072-TtoC)TCBRCA1BRCA1:NM_007297:exon18:c.A5133G:p.R1711R
BRCA1:NM_007298:exon18:c.A1962G:p.R654R
BRCA1:NM_007294:exon19:c.A5274G:p.R1758R
BRCA1:NM_007299:exon19:c.A1962G:p.R654R
BRCA1:NM_007300:exon20:c.A5337G:p.R1779R
synonymous SNVSO:0001819|synonymous_variant2327950Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
4531741209079rs80357906(chr17-41209079--toG)'-GBRCA1BRCA1:NM_007297:exon18:c.5125dupC:p.Q1709fs
BRCA1:NM_007298:exon18:c.1954dupC:p.Q652fs
BRCA1:NM_007294:exon19:c.5266dupC:p.Q1756fs
BRCA1:NM_007299:exon19:c.1954dupC:p.Q652fs
BRCA1:NM_007300:exon20:c.5329dupC:p.Q1777fs
frameshift insertion'-'-0Pancreatic_cancer,_susceptibility_to
Neoplasm_of_ovary
Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Porokeratosis_punctata_palmaris_et_plantaris
Breast-ovarian_cancer,_familial_1
Breast_and/or_ovarian_cancer
not_provided
4541741209095rs80357123(chr17-41209095-GtoA)GABRCA1BRCA1:NM_007297:exon18:c.C5110T:p.R1704X
BRCA1:NM_007298:exon18:c.C1939T:p.R647X
BRCA1:NM_007294:exon19:c.C5251T:p.R1751X
BRCA1:NM_007299:exon19:c.C1939T:p.R647X
BRCA1:NM_007300:exon20:c.C5314T:p.R1772X
stopgainSO:0001587|nonsense554800Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4551741215906rs80357997(chr17-41215906-Cto-)C'-BRCA1BRCA1:NM_007297:exon16:c.4996delG:p.V1666X
BRCA1:NM_007298:exon16:c.1825delG:p.V609X
BRCA1:NM_007294:exon17:c.5137delG:p.V1713X
BRCA1:NM_007299:exon17:c.1825delG:p.V609X
BRCA1:NM_007300:exon18:c.5200delG:p.V1734X
stopgain'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4561741215948rs55770810(chr17-41215948-GtoA)GABRCA1BRCA1:NM_007297:exon16:c.C4954T:p.R1652W
BRCA1:NM_007298:exon16:c.C1783T:p.R595W
BRCA1:NM_007294:exon17:c.C5095T:p.R1699W
BRCA1:NM_007299:exon17:c.C1783T:p.R595W
BRCA1:NM_007300:exon18:c.C5158T:p.R1720W
nonsynonymous SNVSO:0001583|missense_variant553960Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Ovarian_cancer
Breast-ovarian_cancer,_familial_1
Fanconi_anemia,_complementation_group_A
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_S
Breast_and_colorectal_cancer
not_provided
4571741219666rs80357580(chr17-41219666-TTAGto-)TTAG'-BRCA1BRCA1:NM_007297:exon15:c.4889_4892del:p.T1630fs
BRCA1:NM_007298:exon15:c.1718_1721del:p.T573fs
BRCA1:NM_007294:exon16:c.5030_5033del:p.T1677fs
BRCA1:NM_007299:exon16:c.1718_1721del:p.T573fs
BRCA1:NM_007300:exon17:c.5093_5096del:p.T1698fs
frameshift deletion'-'-0Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
Breast_and/or_ovarian_cancer
not_provided
4581741223242rs80357433(chr17-41223242-GtoC)GCBRCA1BRCA1:NM_007297:exon14:c.C4548G:p.Y1516X
BRCA1:NM_007298:exon14:c.C1377G:p.Y459X
BRCA1:NM_007294:exon15:c.C4689G:p.Y1563X
BRCA1:NM_007299:exon15:c.C1377G:p.Y459X
BRCA1:NM_007300:exon16:c.C4752G:p.Y1584X
stopgainSO:0001587|nonsense376070Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4591741234477rs80357790(chr17-41234477--toT)'-TBRCA1BRCA1:NM_007297:exon11:c.4159dupA:p.S1387fs
BRCA1:NM_007298:exon11:c.991dupA:p.S331fs
BRCA1:NM_007294:exon12:c.4300dupA:p.S1434fs
BRCA1:NM_007299:exon12:c.991dupA:p.S331fs
BRCA1:NM_007300:exon12:c.4300dupA:p.S1434fs
frameshift insertion'-'-0Breast-ovarian_cancer,_familial_1
4601741234535rs80357981(chr17-41234535-Cto-)C'-BRCA1BRCA1:NM_007297:exon11:c.4102delG:p.E1368fs
BRCA1:NM_007298:exon11:c.934delG:p.E312fs
BRCA1:NM_007294:exon12:c.4243delG:p.E1415fs
BRCA1:NM_007299:exon12:c.934delG:p.E312fs
BRCA1:NM_007300:exon12:c.4243delG:p.E1415fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4611741234556rs80356989(chr17-41234556-GtoA)GABRCA1BRCA1:NM_007297:exon11:c.C4081T:p.Q1361X
BRCA1:NM_007298:exon11:c.C913T:p.Q305X
BRCA1:NM_007294:exon12:c.C4222T:p.Q1408X
BRCA1:NM_007299:exon12:c.C913T:p.Q305X
BRCA1:NM_007300:exon12:c.C4222T:p.Q1408X
stopgainSO:0001587|nonsense551450Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4621741242962rs80357742(chr17-41242962--toGA)'-GABRCA1BRCA1:NM_007297:exon10:c.4042_4043insTC:p.Q1348fs
BRCA1:NM_007298:exon10:c.874_875insTC:p.Q292fs
BRCA1:NM_007294:exon11:c.4183_4184insTC:p.Q1395fs
BRCA1:NM_007299:exon11:c.874_875insTC:p.Q292fs
BRCA1:NM_007300:exon11:c.4183_4184insTC:p.Q1395fs
frameshift insertion'-'-0Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4631741243480rs80357508(chr17-41243480-TTGAto-)TTGA'-BRCA1BRCA1:NM_007297:exon9:c.3924_3927del:p.N1308fs
BRCA1:NM_007294:exon10:c.4065_4068del:p.N1355fs
BRCA1:NM_007300:exon10:c.4065_4068del:p.N1355fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
Breast_and/or_ovarian_cancer
not_provided
4641741243513rs80357711(chr17-41243513-Tto-)T'-BRCA1BRCA1:NM_007297:exon9:c.3894delA:p.E1298fs
BRCA1:NM_007294:exon10:c.4035delA:p.E1345fs
BRCA1:NM_007300:exon10:c.4035delA:p.E1345fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4651741243581rs80357262(chr17-41243581-GtoA)GABRCA1BRCA1:NM_007297:exon9:c.C3826T:p.Q1276X
BRCA1:NM_007294:exon10:c.C3967T:p.Q1323X
BRCA1:NM_007300:exon10:c.C3967T:p.Q1323X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
550620Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
4661741243800rs28897686(chr17-41243800-CtoA)CABRCA1BRCA1:NM_007297:exon9:c.G3607T:p.E1203X
BRCA1:NM_007294:exon10:c.G3748T:p.E1250X
BRCA1:NM_007300:exon10:c.G3748T:p.E1250X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
176720Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
4671741243836rs777371832(chr17-41243836--toTA)'-TABRCA1BRCA1:NM_007297:exon9:c.3570_3571insTA:p.P1191fs
BRCA1:NM_007294:exon10:c.3711_3712insTA:p.P1238fs
BRCA1:NM_007300:exon10:c.3711_3712insTA:p.P1238fs
frameshift insertion'-'-0Breast-ovarian_cancer,_familial_1
4681741243849rs368690455(chr17-41243849-TtoC)TCBRCA1BRCA1:NM_007297:exon9:c.A3558G:p.K1186K
BRCA1:NM_007294:exon10:c.A3699G:p.K1233K
BRCA1:NM_007300:exon10:c.A3699G:p.K1233K
synonymous SNVSO:0001627|intron_variant
SO:0001819|synonymous_variant
1838550Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
4691741244016rs761143251(chr17-41244016--toA)'-ABRCA1BRCA1:NM_007297:exon9:c.3390dupT:p.S1131_K1132delinsX
BRCA1:NM_007294:exon10:c.3531dupT:p.S1178_K1179delinsX
BRCA1:NM_007300:exon10:c.3531dupT:p.S1178_K1179delinsX
stopgain'-'-0Breast-ovarian_cancer,_familial_1
4701741244145rs80357136(chr17-41244145-GtoA)GABRCA1BRCA1:NM_007297:exon9:c.C3262T:p.Q1088X
BRCA1:NM_007294:exon10:c.C3403T:p.Q1135X
BRCA1:NM_007300:exon10:c.C3403T:p.Q1135X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
548680Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4711741244191rs772383323(chr17-41244191-AtoG)AGBRCA1BRCA1:NM_007297:exon9:c.T3216C:p.T1072T
BRCA1:NM_007294:exon10:c.T3357C:p.T1119T
BRCA1:NM_007300:exon10:c.T3357C:p.T1119T
synonymous SNVSO:0001627|intron_variant
SO:0001819|synonymous_variant
4791960Hereditary_cancer-predisposing_syndrome
4721741244778rs80357661(chr17-41244778-TAACto-)TAAC'-BRCA1BRCA1:NM_007297:exon9:c.2626_2629del:p.V876fs
BRCA1:NM_007294:exon10:c.2767_2770del:p.V923fs
BRCA1:NM_007300:exon10:c.2767_2770del:p.V923fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4731741244840rs80357717(chr17-41244840--toAT)'-ATBRCA1BRCA1:NM_007297:exon9:c.2566_2567insAT:p.C856fs
BRCA1:NM_007294:exon10:c.2707_2708insAT:p.C903fs
BRCA1:NM_007300:exon10:c.2707_2708insAT:p.C903fs
frameshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4741741245073rs80357970(chr17-41245073-Gto-)G'-BRCA1BRCA1:NM_007297:exon9:c.2334delC:p.D778fs
BRCA1:NM_007294:exon10:c.2475delC:p.D825fs
BRCA1:NM_007300:exon10:c.2475delC:p.D825fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4751741245091rs80357669(chr17-41245091-Gto-)G'-BRCA1BRCA1:NM_007297:exon9:c.2316delC:p.S772fs
BRCA1:NM_007294:exon10:c.2457delC:p.S819fs
BRCA1:NM_007300:exon10:c.2457delC:p.S819fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_S
not_provided
4761741245159rs62625306(chr17-41245159-CtoA)CABRCA1BRCA1:NM_007297:exon9:c.G2248T:p.E750X
BRCA1:NM_007294:exon10:c.G2389T:p.E797X
BRCA1:NM_007300:exon10:c.G2389T:p.E797X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
176820Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4771741245332rs80357930(chr17-41245332--toAG)'-AGBRCA1BRCA1:NM_007297:exon9:c.2074_2075insCT:p.K692fs
BRCA1:NM_007294:exon10:c.2215_2216insCT:p.K739fs
BRCA1:NM_007300:exon10:c.2215_2216insCT:p.K739fs
frameshift insertion'-'-0Breast-ovarian_cancer,_familial_1
4781741245410rs80357233(chr17-41245410-GtoC)GCBRCA1BRCA1:NM_007297:exon9:c.C1997G:p.S666X
BRCA1:NM_007294:exon10:c.C2138G:p.S713X
BRCA1:NM_007300:exon10:c.C2138G:p.S713X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
374510Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4791741245587rs80357522(chr17-41245587-Tto-)T'-BRCA1BRCA1:NM_007297:exon9:c.1820delA:p.K607fs
BRCA1:NM_007294:exon10:c.1961delA:p.K654fs
BRCA1:NM_007300:exon10:c.1961delA:p.K654fs
frameshift deletion'-'-0Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Infiltrating_duct_carcinoma_of_breast
Breast-ovarian_cancer,_familial_1
not_provided
4801741245664rs80357567(chr17-41245664-ACTGto-)ACTG'-BRCA1BRCA1:NM_007297:exon9:c.1740_1743del:p.V580fs
BRCA1:NM_007294:exon10:c.1881_1884del:p.V627fs
BRCA1:NM_007300:exon10:c.1881_1884del:p.V627fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4811741245861rs80356898(chr17-41245861-GtoA)GABRCA1BRCA1:NM_007297:exon9:c.C1546T:p.Q516X
BRCA1:NM_007294:exon10:c.C1687T:p.Q563X
BRCA1:NM_007300:exon10:c.C1687T:p.Q563X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
374260Neoplasm_of_ovary
Breast_carcinoma
Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Ovarian_cancer
Breast-ovarian_cancer,_familial_1
not_provided
4821741245924rs397508891(chr17-41245924--toC)'-CBRCA1BRCA1:NM_007297:exon9:c.1482dupG:p.N495fs
BRCA1:NM_007294:exon10:c.1623dupG:p.N542fs
BRCA1:NM_007300:exon10:c.1623dupG:p.N542fs
frameshift insertion'-'-0Breast-ovarian_cancer,_familial_1
4831741246039rs397508873(chr17-41246039--toTTTAATTTAT)'-TTTAATTTATBRCA1BRCA1:NM_007297:exon9:c.1367_1368insATAAATTAAA:p.K456_R457delinsKX
BRCA1:NM_007294:exon10:c.1508_1509insATAAATTAAA:p.K503_R504delinsKX
BRCA1:NM_007300:exon10:c.1508_1509insATAAATTAAA:p.K503_R504delinsKX
stopgain'-'-0Familial_cancer_of_breast
Breast-ovarian_cancer,_familial_1
4841741246433rs397508838(chr17-41246433-CtoT)CTBRCA1BRCA1:NM_007297:exon9:c.G974A:p.W325X
BRCA1:NM_007294:exon10:c.G1115A:p.W372X
BRCA1:NM_007300:exon10:c.G1115A:p.W372X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
541340Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
4851741246494rs80357472(chr17-41246494-CtoA)CABRCA1BRCA1:NM_007297:exon9:c.G913T:p.E305X
BRCA1:NM_007294:exon10:c.G1054T:p.E352X
BRCA1:NM_007300:exon10:c.G1054T:p.E352X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
541080Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4861741246652rs80357670(chr17-41246652-ACto-)AC'-BRCA1BRCA1:NM_007297:exon9:c.754_755del:p.V252fs
BRCA1:NM_007294:exon10:c.895_896del:p.V299fs
BRCA1:NM_007300:exon10:c.895_896del:p.V299fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
Breast_and/or_ovarian_cancer
not_provided
4871741247941rs80358033(chr17-41247941-TtoG)TGBRCA1..SO:0001574|splice_acceptor_variant376860.
4881741251825rs80357872(chr17-41251825-Gto-)G'-BRCA1BRCA1:NM_007297:exon6:c.373delC:p.Q125fs
BRCA1:NM_007298:exon6:c.514delC:p.Q172fs
BRCA1:NM_007294:exon7:c.514delC:p.Q172fs
BRCA1:NM_007299:exon7:c.514delC:p.Q172fs
BRCA1:NM_007300:exon7:c.514delC:p.Q172fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
Breast_and/or_ovarian_cancer
not_provided
4891741256250rs80357604(chr17-41256250--toT)'-TBRCA1BRCA1:NM_007297:exon5:c.188dupA:p.K63fs
BRCA1:NM_007298:exon5:c.329dupA:p.K110fs
BRCA1:NM_007294:exon6:c.329dupA:p.K110fs
BRCA1:NM_007299:exon6:c.329dupA:p.K110fs
BRCA1:NM_007300:exon6:c.329dupA:p.K110fs
frameshift insertion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4901741256884rs587782173(chr17-41256884-CtoA)CABRCA1..SO:0001575|splice_donor_variant2465100Hereditary_cancer-predisposing_syndrome
not_provided
4911741258474rs80357382(chr17-41258474-TtoC)TCBRCA1BRCA1:NM_007297:exon3:c.A70G:p.R24G
BRCA1:NM_007298:exon3:c.A211G:p.R71G
BRCA1:NM_007294:exon4:c.A211G:p.R71G
BRCA1:NM_007299:exon4:c.A211G:p.R71G
BRCA1:NM_007300:exon4:c.A211G:p.R71G
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
176930Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
4921741258504rs28897672(chr17-41258504-AtoC)ACBRCA1BRCA1:NM_007297:exon3:c.T40G:p.C14G
BRCA1:NM_007298:exon3:c.T181G:p.C61G
BRCA1:NM_007294:exon4:c.T181G:p.C61G
BRCA1:NM_007299:exon4:c.T181G:p.C61G
BRCA1:NM_007300:exon4:c.T181G:p.C61G
nonsynonymous SNVSO:0001583|missense_variant176610Breast_carcinoma
Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_specified
not_provided
4931741258551rs80358158(chr17-41258551-CtoA)CABRCA1..SO:0001574|splice_acceptor_variant374040Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
not_provided
4941741276045rs386833395(chr17-41276045-CTto-)CT'-BRCA1BRCA1:NM_007298:exon1:c.68_69del:p.E23fs
BRCA1:NM_007294:exon2:c.68_69del:p.E23fs
BRCA1:NM_007299:exon2:c.68_69del:p.E23fs
BRCA1:NM_007300:exon2:c.68_69del:p.E23fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast-ovarian_cancer,_familial_1
Pancreatic_cancer_4
Breast_and/or_ovarian_cancer
not_provided
4951756770101rs587782528(chr17-56770101-CtoT)CTRAD51CRAD51C:NM_002876:exon1:c.C97T:p.Q33X
RAD51C:NM_058216:exon1:c.C97T:p.Q33X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
1425340Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_O
Breast-ovarian_cancer,_familial_3
not_provided
4961756772325rs786203945(chr17-56772325-CTto-)CT'-RAD51CRAD51C:NM_002876:exon2:c.179_180del:p.T60fs
RAD51C:NM_058216:exon2:c.179_180del:p.T60fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_O
not_provided
4971756772369rs730881939(chr17-56772369--toA)'-ARAD51CRAD51C:NM_002876:exon2:c.224dupA:p.Y75_A76delinsX
RAD51C:NM_058216:exon2:c.224dupA:p.Y75_A76delinsX
stopgain'-'-0Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_O
Breast-ovarian_cancer,_familial_3
not_provided
4981756772543rs387907159(chr17-56772543-CtoT)CTRAD51CRAD51C:NM_002876:exon2:c.C397T:p.Q133X
RAD51C:NM_058216:exon2:c.C397T:p.Q133X
stopgainSO:0001587|nonsense315560Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_O
Breast-ovarian_cancer,_familial_3
not_provided
4991756774172rs1060502582(chr17-56774172--toC)'-CRAD51CRAD51C:NM_058216:exon3:c.524dupC:p.A175fsframeshift insertion'-'-0Fanconi_anemia,_complementation_group_O
5001756780562.(chr17-56780562-CtoA)CARAD51CRAD51C:NM_058216:exon4:c.C577A:p.R193Rsynonymous SNV'-'-0.
5011756783901rs907120156(chr17-56783901--toT)'-TRAD51C..'-'-0.
5021756787223rs770637624(chr17-56787223-CtoT)CTRAD51CRAD51C:NM_058216:exon5:c.C709T:p.R237XstopgainSO:0001587|nonsense1863640Hereditary_breast_and_ovarian_cancer_syndrome
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_O
Breast-ovarian_cancer,_familial_3
not_provided
5031756801399rs587781995(chr17-56801399-AGto-)AG'-RAD51C..'-'-0Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_O
Breast-ovarian_cancer,_familial_3
not_provided
5041759760676rs730881646(chr17-59760676-ATto-)AT'-BRIP1BRIP1:NM_032043:exon20:c.3730_3731del:p.M1244fsframeshift deletion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
5051759760742rs752586524(chr17-59760742--toC)'-CBRIP1BRIP1:NM_032043:exon20:c.3664dupG:p.E1222fsframeshift insertion'-'-0Neoplasm_of_the_breast
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
5061759760756rs542698396(chr17-59760756-CtoA)CABRIP1BRIP1:NM_032043:exon20:c.G3651T:p.W1217Cnonsynonymous SNVSO:0001583|missense_variant1414020Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided
5071759760881rs777367075(chr17-59760881--toA)'-ABRIP1BRIP1:NM_032043:exon20:c.3525dupT:p.I1176fsframeshift insertion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
5081759761199rs748598593(chr17-59761199-Ato-)A'-BRIP1BRIP1:NM_032043:exon20:c.3208delT:p.S1070fsframeshift deletion'-'-0Familial_cancer_of_breast
Fanconi_anemia,_complementation_group_J
5091759761211rs730881645(chr17-59761211-Ato-)A'-BRIP1BRIP1:NM_032043:exon20:c.3196delT:p.S1066fsframeshift deletion'-'-0Neoplasm_of_ovary
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
not_provided
5101759761502rs773639563(chr17-59761502-CtoT)CTBRIP1..'-'-0.
5111759793404rs574552037(chr17-59793404-GtoC)GCBRIP1BRIP1:NM_032043:exon17:c.C2400G:p.Y800XstopgainSO:0001587|nonsense1423430Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5121759793412rs137852986(chr17-59793412-GtoA)GABRIP1BRIP1:NM_032043:exon17:c.C2392T:p.R798XstopgainSO:0001587|nonsense47380Neoplasm_of_ovary
Tracheoesophageal_fistula
Neoplasm_of_the_breast
Familial_cancer_of_breast
Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
Breast_cancer,_early-onset
not_provided
5131759820479rs587780236(chr17-59820479--toA)'-ABRIP1BRIP1:NM_032043:exon16:c.2273dupT:p.V758fsframeshift insertion'-'-0Neoplasm_of_ovary
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5141759821794rs730881649(chr17-59821794-TTto-)TT'-BRIP1BRIP1:NM_032043:exon15:c.2255_2256del:p.K752fsframeshift deletion'-'-0Neoplasm_of_ovary
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5151759821941rs760863397(chr17-59821941--toGG)'-GGBRIP1BRIP1:NM_032043:exon15:c.2108_2109insCC:p.K703fsframeshift insertion'-'-0.
5161759857621rs761015335(chr17-59857621-CtoT)CTBRIP1..'-'-0.
5171759857686rs587781321(chr17-59857686-GtoT)GTBRIP1BRIP1:NM_032043:exon13:c.C1871A:p.S624XstopgainSO:0001587|nonsense1408520Neoplasm_of_ovary
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5181759858254rs780020495(chr17-59858254-GtoA)GABRIP1BRIP1:NM_032043:exon12:c.C1741T:p.R581XstopgainSO:0001587|nonsense4345390Hereditary_cancer-predisposing_syndrome
Breast_cancer,_early-onset
not_provided
5191759861685rs772248310(chr17-59861685-Ato-)A'-BRIP1BRIP1:NM_032043:exon11:c.1574delT:p.I525fsframeshift deletion'-'-0.
5201759871048rs587780875(chr17-59871048-AtoG)AGBRIP1BRIP1:NM_032043:exon10:c.T1383C:p.Y461Ysynonymous SNVSO:0001819|synonymous_variant1365840Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_specified
5211759934505rs763009188(chr17-59934505-TTGTto-)TTGT'-BRIP1BRIP1:NM_032043:exon4:c.290_293del:p.N97fsframeshift deletion'-'-0Neoplasm_of_ovary
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5221759934523.(chr17-59934523-GtoC)GCBRIP1BRIP1:NM_032043:exon4:c.C275G:p.S92Xstopgain'-'-0.
5231759937229rs587781292(chr17-59937229-CtoA)CABRIP1BRIP1:NM_032043:exon3:c.G133T:p.E45XstopgainSO:0001587|nonsense1408080Neoplasm_of_ovary
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5241759938807rs587782047(chr17-59938807-CtoA)CABRIP1..SO:0001575|splice_donor_variant1418380Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_J
not_provided
5251763533955rs775783026(chr17-63533955-TtoC)TCAXIN2..SO:0001574|splice_acceptor_variant4645250Oligodontia-colorectal_cancer_syndrome
5261766519056rs770467532(chr17-66519056-TAto-)TA'-PRKAR1APRKAR1A:NM_001276290:exon2:c.337_338del:p.Y113fs
PRKAR1A:NM_001278433:exon3:c.337_338del:p.Y113fs
PRKAR1A:NM_002734:exon3:c.337_338del:p.Y113fs
PRKAR1A:NM_212471:exon3:c.337_338del:p.Y113fs
PRKAR1A:NM_212472:exon3:c.337_338del:p.Y113fs
PRKAR1A:NM_001276289:exon4:c.337_338del:p.Y113fs
frameshift deletion'-'-0.
5271766526169rs368070399(chr17-66526169--toA)'-APRKAR1A..'-'-0.
5281774469925rs777871789(chr17-74469925-CtoT)CTRHBDF2RHBDF2:NM_001005498:exon13:c.G1634A:p.W545X
RHBDF2:NM_024599:exon14:c.G1721A:p.W574X
stopgain'-'-0.
5291774473371rs749809338(chr17-74473371-TtoA)TARHBDF2RHBDF2:NM_001005498:exon7:c.A811T:p.S271C
RHBDF2:NM_024599:exon8:c.A898T:p.S300C
nonsynonymous SNV'-'-0.
5301774475316rs755437484(chr17-74475316-GtoA)GARHBDF2RHBDF2:NM_001005498:exon4:c.C316T:p.Q106X
RHBDF2:NM_024599:exon5:c.C403T:p.Q135X
stopgain'-'-0.
531177572980rs770970987(chr17-7572980-Tto-)T'-TP53TP53:NM_001126115:exon7:c.733delA:p.T245fs
TP53:NM_001276697:exon7:c.652delA:p.T218fs
TP53:NM_001126118:exon10:c.1012delA:p.T338fs
TP53:NM_000546:exon11:c.1129delA:p.T377fs
TP53:NM_001126112:exon11:c.1129delA:p.T377fs
TP53:NM_001276760:exon11:c.1012delA:p.T338fs
TP53:NM_001276761:exon11:c.1012delA:p.T338fs
frameshift deletion'-'-0.
532177573934rs267605075(chr17-7573934-GtoA)GATP53TP53:NM_001126115:exon6:c.C697T:p.H233Y
TP53:NM_001276697:exon6:c.C616T:p.H206Y
TP53:NM_001126118:exon9:c.C976T:p.H326Y
TP53:NM_000546:exon10:c.C1093T:p.H365Y
TP53:NM_001126112:exon10:c.C1093T:p.H365Y
TP53:NM_001276760:exon10:c.C976T:p.H326Y
TP53:NM_001276761:exon10:c.C976T:p.H326Y
nonsynonymous SNVSO:0001583|missense_variant
SO:0001624|3_prime_UTR_variant
807080Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
533177577509rs121912652(chr17-7577509-CtoT)CTTP53TP53:NM_001126115:exon3:c.G376A:p.E126K
TP53:NM_001126116:exon3:c.G376A:p.E126K
TP53:NM_001126117:exon3:c.G376A:p.E126K
TP53:NM_001276697:exon3:c.G295A:p.E99K
TP53:NM_001276698:exon3:c.G295A:p.E99K
TP53:NM_001276699:exon3:c.G295A:p.E99K
TP53:NM_001126118:exon6:c.G655A:p.E219K
TP53:NM_000546:exon7:c.G772A:p.E258K
TP53:NM_001126112:exon7:c.G772A:p.E258K
TP53:NM_001126113:exon7:c.G772A:p.E258K
TP53:NM_001126114:exon7:c.G772A:p.E258K
TP53:NM_001276695:exon7:c.G655A:p.E219K
TP53:NM_001276696:exon7:c.G655A:p.E219K
TP53:NM_001276760:exon7:c.G655A:p.E219K
TP53:NM_001276761:exon7:c.G655A:p.E219K
nonsynonymous SNVSO:0001583|missense_variant123480Li-Fraumeni_syndrome_1
not_specified
not_provided
534177577539rs121912651(chr17-7577539-GtoA)GATP53TP53:NM_001126115:exon3:c.C346T:p.R116W
TP53:NM_001126116:exon3:c.C346T:p.R116W
TP53:NM_001126117:exon3:c.C346T:p.R116W
TP53:NM_001276697:exon3:c.C265T:p.R89W
TP53:NM_001276698:exon3:c.C265T:p.R89W
TP53:NM_001276699:exon3:c.C265T:p.R89W
TP53:NM_001126118:exon6:c.C625T:p.R209W
TP53:NM_000546:exon7:c.C742T:p.R248W
TP53:NM_001126112:exon7:c.C742T:p.R248W
TP53:NM_001126113:exon7:c.C742T:p.R248W
TP53:NM_001126114:exon7:c.C742T:p.R248W
TP53:NM_001276695:exon7:c.C625T:p.R209W
TP53:NM_001276696:exon7:c.C625T:p.R209W
TP53:NM_001276760:exon7:c.C625T:p.R209W
TP53:NM_001276761:exon7:c.C625T:p.R209W
nonsynonymous SNVSO:0001583|missense_variant123470Li-Fraumeni_syndrome_1
Abnormality_of_the_tongue
Webbed_neck
Pectus_excavatum
Hepatocellular_carcinoma
Pancytopenia
Neoplasm
Medulloblastoma
Short_stature
Acute_myeloid_leukemia
Chronic_lymphocytic_leukemia
Pancreatic_adenocarcinoma
Squamous_cell_carcinoma_of_the_skin
Transitional_cell_carcinoma_of_the_bladder
Multiple_myeloma
Brainstem_glioma
Carcinoma_of_esophagus
Lung_adenocarcinoma
Small_cell_lung_cancer
Squamous_cell_lung_carcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Cognitive_impairment
Neoplasm_of_the_large_intestine
Squamous_cell_carcinoma_of_the_head_and_neck
Malignant_melanoma_of_skin
Glioblastoma
Myelodysplastic_syndrome
Adenocarcinoma_of_prostate
Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
Malignant_neoplasm_of_body_of_uterus
Adenocarcinoma_of_stomach
Ovarian_Serous_Cystadenocarcinoma
Uterine_Carcinosarcoma
not_provided
535177577547rs121912656(chr17-7577547-CtoA)CATP53TP53:NM_001126115:exon3:c.G338T:p.G113V
TP53:NM_001126116:exon3:c.G338T:p.G113V
TP53:NM_001126117:exon3:c.G338T:p.G113V
TP53:NM_001276697:exon3:c.G257T:p.G86V
TP53:NM_001276698:exon3:c.G257T:p.G86V
TP53:NM_001276699:exon3:c.G257T:p.G86V
TP53:NM_001126118:exon6:c.G617T:p.G206V
TP53:NM_000546:exon7:c.G734T:p.G245V
TP53:NM_001126112:exon7:c.G734T:p.G245V
TP53:NM_001126113:exon7:c.G734T:p.G245V
TP53:NM_001126114:exon7:c.G734T:p.G245V
TP53:NM_001276695:exon7:c.G617T:p.G206V
TP53:NM_001276696:exon7:c.G617T:p.G206V
TP53:NM_001276760:exon7:c.G617T:p.G206V
TP53:NM_001276761:exon7:c.G617T:p.G206V
nonsynonymous SNVSO:0001583|missense_variant3766030Hepatocellular_carcinoma
Pancreatic_adenocarcinoma
Transitional_cell_carcinoma_of_the_bladder
Brainstem_glioma
Carcinoma_of_esophagus
Lung_adenocarcinoma
Squamous_cell_lung_carcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Neoplasm_of_the_large_intestine
Squamous_cell_carcinoma_of_the_head_and_neck
Glioblastoma
Adenocarcinoma_of_prostate
Li-Fraumeni_syndrome
Adenocarcinoma_of_stomach
Ovarian_Serous_Cystadenocarcinoma
Uterine_Carcinosarcoma
536177578257.(chr17-7578257-CtoA)CATP53TP53:NM_001126115:exon2:c.G196T:p.E66X
TP53:NM_001126116:exon2:c.G196T:p.E66X
TP53:NM_001126117:exon2:c.G196T:p.E66X
TP53:NM_001276697:exon2:c.G115T:p.E39X
TP53:NM_001276698:exon2:c.G115T:p.E39X
TP53:NM_001276699:exon2:c.G115T:p.E39X
TP53:NM_001126118:exon5:c.G475T:p.E159X
TP53:NM_000546:exon6:c.G592T:p.E198X
TP53:NM_001126112:exon6:c.G592T:p.E198X
TP53:NM_001126113:exon6:c.G592T:p.E198X
TP53:NM_001126114:exon6:c.G592T:p.E198X
TP53:NM_001276695:exon6:c.G475T:p.E159X
TP53:NM_001276696:exon6:c.G475T:p.E159X
TP53:NM_001276760:exon6:c.G475T:p.E159X
TP53:NM_001276761:exon6:c.G475T:p.E159X
stopgain'-'-0.
537177578265rs760043106(chr17-7578265-AtoG)AGTP53TP53:NM_001126115:exon2:c.T188C:p.I63T
TP53:NM_001126116:exon2:c.T188C:p.I63T
TP53:NM_001126117:exon2:c.T188C:p.I63T
TP53:NM_001276697:exon2:c.T107C:p.I36T
TP53:NM_001276698:exon2:c.T107C:p.I36T
TP53:NM_001276699:exon2:c.T107C:p.I36T
TP53:NM_001126118:exon5:c.T467C:p.I156T
TP53:NM_000546:exon6:c.T584C:p.I195T
TP53:NM_001126112:exon6:c.T584C:p.I195T
TP53:NM_001126113:exon6:c.T584C:p.I195T
TP53:NM_001126114:exon6:c.T584C:p.I195T
TP53:NM_001276695:exon6:c.T467C:p.I156T
TP53:NM_001276696:exon6:c.T467C:p.I156T
TP53:NM_001276760:exon6:c.T467C:p.I156T
TP53:NM_001276761:exon6:c.T467C:p.I156T
nonsynonymous SNVSO:0001583|missense_variant2160770Hepatocellular_carcinoma
Acute_myeloid_leukemia
Chronic_lymphocytic_leukemia
Pancreatic_adenocarcinoma
Multiple_myeloma
Carcinoma_of_esophagus
Lung_adenocarcinoma
Squamous_cell_lung_carcinoma
Neoplasm_of_brain
Neoplasm_of_the_breast
Neoplasm_of_the_large_intestine
Squamous_cell_carcinoma_of_the_head_and_neck
Glioblastoma
Li-Fraumeni_syndrome
Adenocarcinoma_of_stomach
Ovarian_Serous_Cystadenocarcinoma
Uterine_Carcinosarcoma
not_provided
538177578457.(chr17-7578457-CtoA)CATP53TP53:NM_001126115:exon1:c.G77T:p.R26L
TP53:NM_001126116:exon1:c.G77T:p.R26L
TP53:NM_001126117:exon1:c.G77T:p.R26L
TP53:NM_001126118:exon4:c.G356T:p.R119L
TP53:NM_000546:exon5:c.G473T:p.R158L
TP53:NM_001126112:exon5:c.G473T:p.R158L
TP53:NM_001126113:exon5:c.G473T:p.R158L
TP53:NM_001126114:exon5:c.G473T:p.R158L
TP53:NM_001276695:exon5:c.G356T:p.R119L
TP53:NM_001276696:exon5:c.G356T:p.R119L
TP53:NM_001276760:exon5:c.G356T:p.R119L
TP53:NM_001276761:exon5:c.G356T:p.R119L
nonsynonymous SNVSO:0001583|missense_variant5282480Li-Fraumeni_syndrome
539177578475rs587782705(chr17-7578475-GtoA)GATP53TP53:NM_001126115:exon1:c.C59T:p.P20L
TP53:NM_001126116:exon1:c.C59T:p.P20L
TP53:NM_001126117:exon1:c.C59T:p.P20L
TP53:NM_001126118:exon4:c.C338T:p.P113L
TP53:NM_000546:exon5:c.C455T:p.P152L
TP53:NM_001126112:exon5:c.C455T:p.P152L
TP53:NM_001126113:exon5:c.C455T:p.P152L
TP53:NM_001126114:exon5:c.C455T:p.P152L
TP53:NM_001276695:exon5:c.C338T:p.P113L
TP53:NM_001276696:exon5:c.C338T:p.P113L
TP53:NM_001276760:exon5:c.C338T:p.P113L
TP53:NM_001276761:exon5:c.C338T:p.P113L
nonsynonymous SNVSO:0001583|missense_variant
SO:0001623|5_prime_UTR_variant
1427660Li-Fraumeni_syndrome_1
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
not_provided
540177578555rs751253294(chr17-7578555--toT)'-TTP53..'-'-0Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
not_specified
541177579358rs11540654(chr17-7579358-CtoA)CATP53TP53:NM_001126118:exon3:c.G212T:p.R71L
TP53:NM_000546:exon4:c.G329T:p.R110L
TP53:NM_001126112:exon4:c.G329T:p.R110L
TP53:NM_001126113:exon4:c.G329T:p.R110L
TP53:NM_001126114:exon4:c.G329T:p.R110L
TP53:NM_001276695:exon4:c.G212T:p.R71L
TP53:NM_001276696:exon4:c.G212T:p.R71L
TP53:NM_001276760:exon4:c.G212T:p.R71L
TP53:NM_001276761:exon4:c.G212T:p.R71L
nonsynonymous SNVSO:0001583|missense_variant
SO:0001636|2KB_upstream_variant
4065970Hereditary_cancer-predisposing_syndrome
Li-Fraumeni_syndrome
5421842449194rs147805077(chr18-42449194-GtoA)GASETBP1..SO:0001574|splice_acceptor_variant4295240not_provided
5431842456634rs767687415(chr18-42456634-CtoA)CASETBP1SETBP1:NM_001130110:exon4:c.C645A:p.C215Xstopgain'-'-0.
5441848603032rs377767360(chr18-48603032-CtoT)CTSMAD4SMAD4:NM_005359:exon11:c.C1333T:p.R445XstopgainSO:0001587|nonsense248500Hereditary_cancer-predisposing_syndrome
Juvenile_polyposis_syndrome
Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome
not_provided
5451911098473rs760562676(chr19-11098473-CtoT)CTSMARCA4SMARCA4:NM_001128845:exon5:c.C991T:p.Q331X
SMARCA4:NM_001128846:exon5:c.C991T:p.Q331X
SMARCA4:NM_001128847:exon5:c.C991T:p.Q331X
SMARCA4:NM_001128848:exon5:c.C991T:p.Q331X
SMARCA4:NM_001128849:exon6:c.C991T:p.Q331X
SMARCA4:NM_003072:exon6:c.C991T:p.Q331X
SMARCA4:NM_001128844:exon7:c.C991T:p.Q331X
stopgain'-'-0.
546191226607.(chr19-1226607-CtoT)CTSTK11STK11:NM_000455:exon9:c.C1263T:p.S421Ssynonymous SNVSO:0001819|synonymous_variant4580310Peutz-Jeghers_syndrome
Hereditary_cancer-predisposing_syndrome
5471950918854rs767410345(chr19-50918854-CtoT)CTPOLD1..SO:0001627|intron_variant4080820Colorectal_cancer_10
5481950921181rs1060501849(chr19-50921181-Cto-)C'-POLD1POLD1:NM_001308632:exon26:c.3379delC:p.P1127fs
POLD1:NM_001256849:exon27:c.3301delC:p.P1101fs
POLD1:NM_002691:exon27:c.3301delC:p.P1101fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Colorectal_cancer_10
not_provided
5492128044348rs121913047(chr2-128044348-GtoA)GAERCC3ERCC3:NM_000122:exon8:c.C1273T:p.R425X
ERCC3:NM_001303416:exon8:c.C1081T:p.R361X
ERCC3:NM_001303418:exon8:c.C1081T:p.R361X
stopgainSO:0001587|nonsense165850Xeroderma_pigmentosum,_complementation_group_b
5502166611441rs745655924(chr2-166611441-CtoT)CTGALNT3..SO:0001575|splice_donor_variant77910Tumoral_calcinosis,_familial,_hyperphosphatemic
5512166621568rs761396172(chr2-166621568-TtoA)TAGALNT3..'-77940Tumoral_calcinosis,_familial,_hyperphosphatemic
not_provided
5522215610566rs587780021(chr2-215610566-GtoA)GABARD1BARD1:NM_001282548:exon3:c.C280T:p.Q94X
BARD1:NM_001282545:exon4:c.C337T:p.Q113X
BARD1:NM_001282543:exon7:c.C1633T:p.Q545X
BARD1:NM_000465:exon8:c.C1690T:p.Q564X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
1277200Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Triple-Negative_Breast_Cancer_Finding
not_provided
5532215617196rs587781707(chr2-215617196-GtoC)GCBARD1BARD1:NM_001282548:exon2:c.C242G:p.S81X
BARD1:NM_001282545:exon3:c.C299G:p.S100X
BARD1:NM_001282543:exon6:c.C1595G:p.S532X
BARD1:NM_000465:exon7:c.C1652G:p.S551X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
1413840Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Breast_cancer,_susceptibility_to
not_provided
5542215645382rs377153250(chr2-215645382-GtoA)GABARD1BARD1:NM_001282543:exon3:c.C1159T:p.R387X
BARD1:NM_000465:exon4:c.C1216T:p.R406X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
2296770Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
5552224129357rs367768260(chr22-24129357-AtoG)AGSMARCB1SMARCB1:NM_001007468:exon1:c.A1G:p.M1V
SMARCB1:NM_001317946:exon1:c.A1G:p.M1V
SMARCB1:NM_003073:exon1:c.A1G:p.M1V
nonsynonymous SNVSO:0001583|missense_variant1352570Hereditary_cancer-predisposing_syndrome
Rhabdoid_tumor_predisposition_syndrome_1
not_specified
5562229085179rs756250205(chr22-29085179-GtoA)GACHEK2CHEK2:NM_001349956:exon13:c.C1285T:p.Q429X
CHEK2:NM_145862:exon13:c.C1399T:p.Q467X
CHEK2:NM_007194:exon14:c.C1486T:p.Q496X
CHEK2:NM_001005735:exon15:c.C1615T:p.Q539X
CHEK2:NM_001257387:exon15:c.C823T:p.Q275X
stopgainSO:0001587|nonsense2304550Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
5572229085204rs1060502698(chr22-29085204-CtoT)CTCHEK2..SO:0001574|splice_acceptor_variant4100260Familial_cancer_of_breast
5582229091121rs730881700(chr22-29091121--toT)'-TCHEK2CHEK2:NM_001349956:exon11:c.1167dupA:p.E390fs
CHEK2:NM_145862:exon11:c.1281dupA:p.E428fs
CHEK2:NM_007194:exon12:c.1368dupA:p.E457fs
CHEK2:NM_001005735:exon13:c.1497dupA:p.E500fs
CHEK2:NM_001257387:exon13:c.705dupA:p.E236fs
frameshift insertion'-'-0Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
CHEK2-Related_Cancer_Susceptibility
not_provided
5592229091207rs137853011(chr22-29091207-GtoA)GACHEK2CHEK2:NM_001349956:exon11:c.C1082T:p.S361F
CHEK2:NM_145862:exon11:c.C1196T:p.S399F
CHEK2:NM_007194:exon12:c.C1283T:p.S428F
CHEK2:NM_001005735:exon13:c.C1412T:p.S471F
CHEK2:NM_001257387:exon13:c.C620T:p.S207F
nonsynonymous SNVSO:0001583|missense_variant56030Osteosarcoma
Malignant_tumor_of_prostate
Neoplasm_of_the_breast
Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
Colorectal_cancer
Li-Fraumeni_syndrome_2
Breast_and_colorectal_cancer,_susceptibility_to
Breast_cancer,_susceptibility_to
not_provided
5602229091227rs587780174(chr22-29091227-Ato-)A'-CHEK2CHEK2:NM_001349956:exon11:c.1062delT:p.L354fs
CHEK2:NM_145862:exon11:c.1176delT:p.L392fs
CHEK2:NM_007194:exon12:c.1263delT:p.L421fs
CHEK2:NM_001005735:exon13:c.1392delT:p.L464fs
CHEK2:NM_001257387:exon13:c.600delT:p.L200fs
frameshift deletion'-'-0Hereditary_breast_and_ovarian_cancer_syndrome
Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
5612229120979rs775167943(chr22-29120979-AGto-)AG'-CHEK2CHEK2:NM_007194:exon4:c.577_578del:p.L193fs
CHEK2:NM_145862:exon4:c.577_578del:p.L193fs
CHEK2:NM_001005735:exon5:c.706_707del:p.L236fs
frameshift deletion'-'-0Familial_cancer_of_breast
5622229121230rs121908698(chr22-29121230-CtoA)CACHEK2..SO:0001575|splice_donor_variant1269140Familial_cancer_of_breast
not_provided
5632229121266rs730881701(chr22-29121266-GtoA)GACHEK2CHEK2:NM_001349956:exon3:c.C409T:p.R137X
CHEK2:NM_007194:exon3:c.C409T:p.R137X
CHEK2:NM_145862:exon3:c.C409T:p.R137X
CHEK2:NM_001005735:exon4:c.C538T:p.R180X
stopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
1824520Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
5642229130431rs587782070(chr22-29130431-CtoT)CTCHEK2CHEK2:NM_001005735:exon2:c.G279A:p.W93X
CHEK2:NM_001349956:exon2:c.G279A:p.W93X
CHEK2:NM_007194:exon2:c.G279A:p.W93X
CHEK2:NM_145862:exon2:c.G279A:p.W93X
stopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
1418660Familial_cancer_of_breast
Hereditary_cancer-predisposing_syndrome
not_provided
5652230077555rs755032702(chr22-30077555-AGto-)AG'-NF2NF2:NM_181830:exon13:c.1453_1454del:p.R485fs
NF2:NM_181831:exon13:c.1453_1454del:p.R485fs
NF2:NM_181828:exon14:c.1576_1577del:p.R526fs
NF2:NM_181829:exon14:c.1579_1580del:p.R527fs
NF2:NM_000268:exon15:c.1702_1703del:p.R568fs
NF2:NM_016418:exon15:c.1702_1703del:p.R568fs
NF2:NM_181825:exon15:c.1702_1703del:p.R568fs
NF2:NM_181832:exon15:c.1702_1703del:p.R568fs
frameshift deletion'-'-0.
566239213287.(chr2-39213287-GtoC)GCSOS1SOS1:NM_005633:exon23:c.C3680G:p.S1227Xstopgain'-'-0.
567247596646.(chr2-47596646-TtoC)TCEPCAMEPCAM:NM_002354:exon1:c.T2C:p.M1Tnonsynonymous SNV'-'-0.
568247602372rs373597944(chr2-47602372-GtoC)GCEPCAM..'-'-0.
569247612350rs751264236(chr2-47612350-GtoA)GAEPCAM..'-'-0.
570247630331rs267607911(chr2-47630331-AtoC)ACMSH2MSH2:NM_000251:exon1:c.A1C:p.M1Lnonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
908320Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_I
not_specified
not_provided
571247637272rs63750408(chr2-47637272-Tto-)T'-MSH2MSH2:NM_000251:exon3:c.406delT:p.F136fs
MSH2:NM_001258281:exon4:c.208delT:p.F70fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
572247637350rs63750624(chr2-47637350-GtoA)GAMSH2MSH2:NM_000251:exon3:c.G484A:p.G162R
MSH2:NM_001258281:exon4:c.G286A:p.G96R
nonsynonymous SNVSO:0001583|missense_variant911050Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_I
573247637374rs63750843(chr2-47637374-CtoT)CTMSH2MSH2:NM_000251:exon3:c.C508T:p.Q170X
MSH2:NM_001258281:exon4:c.C310T:p.Q104X
stopgainSO:0001587|nonsense911170Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
not_provided
574247657024rs760228651(chr2-47657024--toC)'-CMSH2MSH2:NM_000251:exon7:c.1221dupC:p.L407fs
MSH2:NM_001258281:exon8:c.1023dupC:p.L341fs
frameshift insertion'-'-0.
575247657082rs267607953(chr2-47657082-TtoC)TCMSH2..SO:0001575|splice_donor_variant2180320Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome_I
not_provided
576247703538rs63749932(chr2-47703538-CtoT)CTMSH2MSH2:NM_000251:exon13:c.C2038T:p.R680X
MSH2:NM_001258281:exon14:c.C1840T:p.R614X
stopgainSO:0001587|nonsense365720Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Malignant_tumor_of_ascending_colon
Lynch_syndrome
Lynch_syndrome_I
not_provided
577247707944rs768137500(chr2-47707944-TtoA)TAMSH2MSH2:NM_000251:exon15:c.T2568A:p.Y856X
MSH2:NM_001258281:exon16:c.T2370A:p.Y790X
stopgain'-'-0.
578247739550.(chr2-47739550-CtoT)CTMSH2;KCNK12..'-'-0.
579248025864rs587781691(chr2-48025864-Cto-)C'-MSH6MSH6:NM_001281492:exon2:c.352delC:p.R118fs
MSH6:NM_000179:exon4:c.742delC:p.R248fs
frameshift deletion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
not_provided
580248025965rs752540976(chr2-48025965--toAC)'-ACMSH6MSH6:NM_001281492:exon2:c.453_454insAC:p.G151fs
MSH6:NM_000179:exon4:c.843_844insAC:p.G281fs
frameshift insertion'-'-0.
581248026251rs267608077(chr2-48026251-AAGAGto-)AAGAG'-MSH6MSH6:NM_001281492:exon2:c.739_743del:p.K247fs
MSH6:NM_001281493:exon3:c.223_227del:p.K75fs
MSH6:NM_000179:exon4:c.1129_1133del:p.K377fs
MSH6:NM_001281494:exon4:c.223_227del:p.K75fs
frameshift deletion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_provided
582248026728rs863224829(chr2-48026728-AGTAto-)AGTA'-MSH6MSH6:NM_001281492:exon2:c.1216_1219del:p.S406fs
MSH6:NM_001281493:exon3:c.700_703del:p.S234fs
MSH6:NM_000179:exon4:c.1606_1609del:p.S536fs
MSH6:NM_001281494:exon4:c.700_703del:p.S234fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
not_provided
583248026890rs786202108(chr2-48026890-Cto-)C'-MSH6MSH6:NM_001281492:exon2:c.1378delC:p.P460fs
MSH6:NM_001281493:exon3:c.862delC:p.P288fs
MSH6:NM_000179:exon4:c.1768delC:p.P590fs
MSH6:NM_001281494:exon4:c.862delC:p.P288fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
584248027686rs760558287(chr2-48027686-Tto-)T'-MSH6MSH6:NM_001281492:exon2:c.2174delT:p.I725fs
MSH6:NM_001281493:exon3:c.1658delT:p.I553fs
MSH6:NM_000179:exon4:c.2564delT:p.I855fs
MSH6:NM_001281494:exon4:c.1658delT:p.I553fs
frameshift deletion'-'-0.
585248028135rs63750563(chr2-48028135-CtoT)CTMSH6MSH6:NM_001281492:exon2:c.C2623T:p.R875X
MSH6:NM_001281493:exon3:c.C2107T:p.R703X
MSH6:NM_000179:exon4:c.C3013T:p.R1005X
MSH6:NM_001281494:exon4:c.C2107T:p.R703X
stopgainSO:0001587|nonsense893300Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_provided
586248032149rs766905993(chr2-48032149-CtoG)CGMSH6MSH6:NM_001281492:exon4:c.C3149G:p.S1050X
MSH6:NM_001281493:exon5:c.C2633G:p.S878X
MSH6:NM_000179:exon6:c.C3539G:p.S1180X
MSH6:NM_001281494:exon6:c.C2633G:p.S878X
stopgainSO:0001587|nonsense4282960Hereditary_cancer-predisposing_syndrome
587248033448rs876661222(chr2-48033448--toATTA)'-ATTAMSH6MSH6:NM_001281492:exon6:c.3362_3363insATTA:p.S1121fs
MSH6:NM_001281493:exon7:c.2846_2847insATTA:p.S949fs
MSH6:NM_000179:exon8:c.3752_3753insATTA:p.S1251fs
MSH6:NM_001281494:exon8:c.2846_2847insATTA:p.S949fs
frameshift insertion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_provided
588248033745rs267608120(chr2-48033745-AAGCto-)AAGC'-MSH6MSH6:NM_001281492:exon7:c.3566_3569del:p.K1189fs
MSH6:NM_001281493:exon8:c.3050_3053del:p.K1017fs
MSH6:NM_000179:exon9:c.3956_3959del:p.K1319fs
MSH6:NM_001281494:exon9:c.3050_3053del:p.K1017fs
frameshift deletion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_provided
589248033769rs267608121(chr2-48033769--toTCAG)'-TCAGMSH6MSH6:NM_001281492:exon7:c.3590_3591insTCAG:p.N1197fs
MSH6:NM_001281493:exon8:c.3074_3075insTCAG:p.N1025fs
MSH6:NM_000179:exon9:c.3980_3981insTCAG:p.N1327fs
MSH6:NM_001281494:exon9:c.3074_3075insTCAG:p.N1025fs
frameshift insertion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_provided
590248033975rs55740729(chr2-48033975--toCTGA)'-CTGAMSH6MSH6:NM_001281492:exon8:c.3669_3670insCTGA:p.L1223fs
MSH6:NM_001281493:exon9:c.3153_3154insCTGA:p.L1051fs
MSH6:NM_000179:exon10:c.4059_4060insCTGA:p.L1353fs
MSH6:NM_001281494:exon10:c.3153_3154insCTGA:p.L1051fs
frameshift insertion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
591248033991rs575068534(chr2-48033991--toAATT)'-AATTMSH6MSH6:NM_001281492:exon8:c.3685_3686insAATT:p.E1229fs
MSH6:NM_001281493:exon9:c.3169_3170insAATT:p.E1057fs
MSH6:NM_000179:exon10:c.4075_4076insAATT:p.E1359fs
MSH6:NM_001281494:exon10:c.3169_3170insAATT:p.E1057fs
frameshift insertion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_5
not_specified
592296919794rs780133289(chr2-96919794-GtoA)GATMEM127TMEM127:NM_001193304:exon4:c.C469T:p.Q157X
TMEM127:NM_017849:exon4:c.C469T:p.Q157X
stopgainSO:0001587|nonsense4638490Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
593296919799rs886039439(chr2-96919799-AtoT)ATTMEM127TMEM127:NM_001193304:exon4:c.T464A:p.L155X
TMEM127:NM_017849:exon4:c.T464A:p.L155X
stopgainSO:0001587|nonsense2652710Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
not_provided
594296920727rs771261665(chr2-96920727-TtoC)TCTMEM127TMEM127:NM_001193304:exon3:c.A253G:p.M85V
TMEM127:NM_017849:exon3:c.A253G:p.M85V
nonsynonymous SNVSO:0001583|missense_variant1865660Hereditary_cancer-predisposing_syndrome
Hereditary_Paraganglioma-Pheochromocytoma_Syndromes
not_provided
595296920732rs587781773(chr2-96920732-Ato-)A'-TMEM127TMEM127:NM_001193304:exon3:c.248delT:p.F83fs
TMEM127:NM_017849:exon3:c.248delT:p.F83fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
596310183823rs5030809(chr3-10183823-TtoC)TCVHLVHL:NM_000551:exon1:c.T292C:p.Y98H
VHL:NM_198156:exon1:c.T292C:p.Y98H
nonsynonymous SNVSO:0001583|missense_variant22230Von_Hippel-Lindau_syndrome
Hereditary_cancer-predisposing_syndrome
Erythrocytosis,_familial,_2
not_provided
597310188208.(chr3-10188208-GtoA)GAVHLVHL:NM_000551:exon2:c.G351A:p.W117Xstopgain'-'-0.
598310188257.(chr3-10188257-GtoT)GTVHLVHL:NM_000551:exon2:c.G400T:p.E134Xstopgain'-'-0.
599310191492rs397516444(chr3-10191492-GtoT)GTVHLVHL:NM_198156:exon2:c.G362T:p.C121F
VHL:NM_000551:exon3:c.G485T:p.C162F
nonsynonymous SNVSO:0001583|missense_variant436040Von_Hippel-Lindau_syndrome
600310191506rs5030820(chr3-10191506-CtoT)CTVHLVHL:NM_198156:exon2:c.C376T:p.R126W
VHL:NM_000551:exon3:c.C499T:p.R167W
nonsynonymous SNVSO:0001583|missense_variant22180Pheochromocytoma
Renal_cell_carcinoma,_papillary,_1
Von_Hippel-Lindau_syndrome
Hereditary_cancer-predisposing_syndrome
Erythrocytosis,_familial,_2
not_provided
601310191507rs5030821(chr3-10191507-GtoA)GAVHLVHL:NM_198156:exon2:c.G377A:p.R126Q
VHL:NM_000551:exon3:c.G500A:p.R167Q
nonsynonymous SNVSO:0001583|missense_variant22160Von_Hippel-Lindau_syndrome
Hereditary_cancer-predisposing_syndrome
Erythrocytosis,_familial,_2
not_specified
not_provided
602310191569rs5030824(chr3-10191569-CtoG)CGVHLVHL:NM_198156:exon2:c.C439G:p.L147V
VHL:NM_000551:exon3:c.C562G:p.L188V
nonsynonymous SNVSO:0001583|missense_variant22250Pheochromocytoma
Von_Hippel-Lindau_syndrome
Hereditary_cancer-predisposing_syndrome
Erythrocytosis,_familial,_2
not_provided
603314190232rs754673606(chr3-14190232-CtoT)CTXPC..'-'-0.
604314199739rs754532049(chr3-14199739-CAto-)CA'-XPCXPC:NM_004628:exon9:c.1643_1644del:p.V548fsframeshift deletion'-'-0Xeroderma_pigmentosum,_group_C
6053142168390rs749753899(chr3-142168390-GtoA)GAATRATR:NM_001184:exon47:c.C7816T:p.R2606Xstopgain'-'-0.
6063142188183.(chr3-142188183-GtoC)GCATRATR:NM_001184:exon38:c.C6548G:p.S2183Xstopgain'-'-0.
6073142188200rs764800468(chr3-142188200-CtoT)CTATRATR:NM_001184:exon38:c.G6531A:p.W2177Xstopgain'-'-0.
6083142188969rs781260235(chr3-142188969-AGto-)AG'-ATRATR:NM_001184:exon37:c.6277_6278del:p.L2093fsframeshift deletion'-'-0.
6093142217461rs754030624(chr3-142217461-GtoA)GAATRATR:NM_001184:exon32:c.C5536T:p.R1846Xstopgain'-'-0.
6103142226885.(chr3-142226885--toTATC)'-TATCATRATR:NM_001184:exon28:c.4918_4919insGATA:p.T1640fsframeshift insertion'-'-0.
6113142234279rs770800988(chr3-142234279-AAto-)AA'-ATRATR:NM_001184:exon25:c.4460_4461del:p.F1487fsframeshift deletion'-'-0.
6123142241602rs769216993(chr3-142241602-GtoA)GAATRATR:NM_001184:exon23:c.C4234T:p.R1412Xstopgain'-'-0.
6133142272241rs372271245(chr3-142272241-CtoT)CTATR..'-'-0.
6143142272583rs755272769(chr3-142272583-CtoT)CTATR..'-'-0.
6153142279156rs770869293(chr3-142279156-AtoT)ATATRATR:NM_001184:exon6:c.T1490A:p.L497Xstopgain'-'-0.
6163142280209.(chr3-142280209-CtoA)CAATRATR:NM_001184:exon5:c.G1225T:p.E409Xstopgain'-'-0.
6173142281268rs759554602(chr3-142281268-AGto-)AG'-ATRATR:NM_001184:exon4:c.975_976del:p.L325fsframeshift deletion'-'-0.
618337042528rs773647920(chr3-37042528-AtoG)AGMLH1MLH1:NM_000249:exon3:c.A290G:p.Y97C
MLH1:NM_001167617:exon3:c.A1G:p.M1V
MLH1:NM_001258271:exon3:c.A290G:p.Y97C
nonsynonymous SNVSO:0001583|missense_variant
SO:0001623|5_prime_UTR_variant
SO:0001627|intron_variant
1844860Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome_II
not_provided
619337053589rs63751615(chr3-37053589-CtoT)CTMLH1MLH1:NM_000249:exon8:c.C676T:p.R226X
MLH1:NM_001167617:exon8:c.C382T:p.R128X
MLH1:NM_001258271:exon8:c.C676T:p.R226X
stopgainSO:0001587|nonsense170870Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Turcot_syndrome
Lynch_syndrome
Lynch_syndrome_II
not_provided
620337090017rs779795819(chr3-37090017--toTGAT)'-TGATMLH1MLH1:NM_001167619:exon16:c.1183_1184insTGAT:p.L395fs
MLH1:NM_001258273:exon16:c.1183_1184insTGAT:p.L395fs
MLH1:NM_000249:exon17:c.1906_1907insTGAT:p.L636fs
MLH1:NM_001167617:exon17:c.1612_1613insTGAT:p.L538fs
MLH1:NM_001167618:exon17:c.1183_1184insTGAT:p.L395fs
MLH1:NM_001258274:exon18:c.1183_1184insTGAT:p.L395fs
frameshift insertion'-'-0.
621337090476rs780956158(chr3-37090476--toT)'-TMLH1MLH1:NM_001167619:exon17:c.1349dupT:p.I450fs
MLH1:NM_001258273:exon17:c.1349dupT:p.I450fs
MLH1:NM_000249:exon18:c.2072dupT:p.I691fs
MLH1:NM_001167617:exon18:c.1778dupT:p.I593fs
MLH1:NM_001167618:exon18:c.1349dupT:p.I450fs
MLH1:NM_001258274:exon19:c.1349dupT:p.I450fs
frameshift insertion'-'-0.
622337092010rs767094219(chr3-37092010-AtoT)ATMLH1MLH1:NM_001258271:exon17:c.A1930T:p.K644X
MLH1:NM_001167619:exon18:c.A1414T:p.K472X
MLH1:NM_001258273:exon18:c.A1414T:p.K472X
MLH1:NM_000249:exon19:c.A2137T:p.K713X
MLH1:NM_001167617:exon19:c.A1843T:p.K615X
MLH1:NM_001167618:exon19:c.A1414T:p.K472X
MLH1:NM_001258274:exon20:c.A1414T:p.K472X
stopgain'-'-0.
623348603069rs143457874(chr3-48603069-GtoA)GACOL7A1COL7A1:NM_000094:exon114:c.C8440T:p.R2814XstopgainSO:0001587|nonsense2650820not_provided
624348604125.(chr3-48604125-Cto-)C'-COL7A1COL7A1:NM_000094:exon111:c.8272delG:p.V2758fsframeshift deletion'-'-0not_provided
625348605066rs756771873(chr3-48605066-CtoA)CACOL7A1COL7A1:NM_000094:exon108:c.G7987T:p.E2663Xstopgain'-'-0.
626348605939rs759990189(chr3-48605939-Cto-)C'-COL7A1COL7A1:NM_000094:exon104:c.7787delG:p.G2596fsframeshift deletion'-'-0.
627348610664rs757406252(chr3-48610664--toA)'-ACOL7A1COL7A1:NM_000094:exon84:c.6656dupT:p.L2219fsframeshift insertion'-'-0not_provided
628348611325rs773265287(chr3-48611325-TtoC)TCCOL7A1..'-'-0.
629348611694rs759644973(chr3-48611694-CtoG)CGCOL7A1..'-'-0.
630348617463.(chr3-48617463-CtoA)CACOL7A1..'-'-0.
631348618698rs751535193(chr3-48618698-GtoA)GACOL7A1COL7A1:NM_000094:exon51:c.C4894T:p.R1632Xstopgain'-6200880.
632348619910.(chr3-48619910-CtoT)CTCOL7A1..'-'-0.
633348621170rs753185460(chr3-48621170-Gto-)G'-COL7A1COL7A1:NM_000094:exon39:c.4322delC:p.P1441fsframeshift deletion'-'-0.
634348622501rs747912732(chr3-48622501--toC)'-CCOL7A1COL7A1:NM_000094:exon32:c.3942dupG:p.N1315fsframeshift insertion'-'-0not_provided
635348623044rs757688782(chr3-48623044-Gto-)G'-COL7A1COL7A1:NM_000094:exon31:c.3840delC:p.T1280fsframeshift deletion'-'-0Transient_bullous_dermolysis_of_the_newborn
not_provided
636348624705rs751139649(chr3-48624705-CTto-)CT'-COL7A1COL7A1:NM_000094:exon23:c.3056_3057del:p.E1019fsframeshift deletion'-'-0.
637348626396rs776206530(chr3-48626396-GtoA)GACOL7A1COL7A1:NM_000094:exon18:c.C2347T:p.Q783Xstopgain'-'-0.
638348627691rs780261665(chr3-48627691-GtoA)GACOL7A1COL7A1:NM_000094:exon15:c.C2005T:p.R669XstopgainSO:0001587|nonsense3740520Abnormality_of_the_skin
Toe_syndactyly
Anonychia
Short_stature
Finger_syndactyly
Palmoplantar_blistering
Abnormal_blistering_of_the_skin
Nail_dystrophy
Skin_erosion
not_provided
639348627972rs756448439(chr3-48627972-GtoC)GCCOL7A1COL7A1:NM_000094:exon14:c.C1826G:p.S609Xstopgain'-'-0.
640348628154rs144023803(chr3-48628154-GtoA)GACOL7A1COL7A1:NM_000094:exon13:c.C1732T:p.R578XstopgainSO:0001587|nonsense3723300Recessive_dystrophic_epidermolysis_bullosa
not_provided
641348630534rs775288140(chr3-48630534-CtoT)CTCOL7A1..SO:0001575|splice_donor_variant3723290Recessive_dystrophic_epidermolysis_bullosa
not_provided
642348630541rs753819164(chr3-48630541-GtoA)GACOL7A1COL7A1:NM_000094:exon5:c.C676T:p.R226Xstopgain'-'-0.
643348630811rs766902987(chr3-48630811--toT)'-TCOL7A1COL7A1:NM_000094:exon4:c.497dupA:p.Q166fsframeshift insertion'-'-0not_provided
644352436624rs387906848(chr3-52436624-GtoA)GABAP1BAP1:NM_004656:exon16:c.C2050T:p.Q684XstopgainSO:0001587|nonsense303020Tumor_susceptibility_linked_to_germline_BAP1_mutations
not_provided
645352437802.(chr3-52437802-TTto-)TT'-BAP1BAP1:NM_004656:exon13:c.1358_1359del:p.K453fsframeshift deletion'-'-0Tumor_susceptibility_linked_to_germline_BAP1_mutations
646352437816rs764734266(chr3-52437816-CtoT)CTBAP1BAP1:NM_004656:exon13:c.G1345A:p.A449Tnonsynonymous SNVSO:0001583|missense_variant4852640Hereditary_cancer-predisposing_syndrome
Tumor_susceptibility_linked_to_germline_BAP1_mutations
647352440271rs772448753(chr3-52440271-GtoA)GABAP1BAP1:NM_004656:exon9:c.C781T:p.Q261Xstopgain'-'-0.
648352441334.(chr3-52441334-TtoC)TCBAP1..SO:0001574|splice_acceptor_variant303010Tumor_susceptibility_linked_to_germline_BAP1_mutations
649352441973rs775451516(chr3-52441973-CtoT)CTBAP1..'-'-0.
650352442566.(chr3-52442566-Cto-)C'-BAP1BAP1:NM_004656:exon4:c.179delG:p.R60fsframeshift deletion'-'-0.
651441749673rs766220965(chr4-41749673-GAto-)GA'-PHOX2B..'-'-0.
6525112090657rs145945630(chr5-112090657-CtoT)CTAPCAPC:NM_000038:exon2:c.C70T:p.R24X
APC:NM_001127510:exon3:c.C70T:p.R24X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
1847020Hereditary_cancer-predisposing_syndrome
Familial_adenomatous_polyposis_1
not_specified
Familial_adenomatous_polyposis
not_provided
6535112102093rs752519066(chr5-112102093-TtoA)TAAPCAPC:NM_001127511:exon2:c.T236A:p.L79X
APC:NM_000038:exon3:c.T206A:p.L69X
APC:NM_001127510:exon4:c.T206A:p.L69X
stopgain'-'-0.
6545112128228rs1060503289(chr5-112128228-Tto-)T'-APC..'-'-0Familial_adenomatous_polyposis_1
6555112175925.(chr5-112175925-CtoA)CAAPCAPC:NM_001127511:exon14:c.C4580A:p.S1527X
APC:NM_000038:exon16:c.C4634A:p.S1545X
APC:NM_001127510:exon17:c.C4634A:p.S1545X
stopgainSO:0001587|nonsense4902800Hereditary_cancer-predisposing_syndrome
6565112177113rs864622228(chr5-112177113-CAGAto-)CAGA'-APCAPC:NM_001127511:exon14:c.5768_5771del:p.P1923fs
APC:NM_000038:exon16:c.5822_5825del:p.P1941fs
APC:NM_001127510:exon17:c.5822_5825del:p.P1941fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Desmoid_disease,_hereditary
Familial_adenomatous_polyposis_1
not_provided
6575131924564rs373428259(chr5-131924564-CtoT)CTRAD50RAD50:NM_005732:exon8:c.C1237T:p.Q413XstopgainSO:0001587|nonsense1844690Hereditary_cancer-predisposing_syndrome
6585131953826rs368980595(chr5-131953826-CtoT)CTRAD50RAD50:NM_005732:exon21:c.C3229T:p.R1077XstopgainSO:0001587|nonsense2312000Hereditary_cancer-predisposing_syndrome
6595131973895rs750586158(chr5-131973895-CtoT)CTRAD50RAD50:NM_005732:exon23:c.C3598T:p.R1200XstopgainSO:0001587|nonsense1848790Hereditary_cancer-predisposing_syndrome
6605218471rs1061517(chr5-218471-AtoG)AGSDHASDHA:NM_001294332:exon1:c.A1G:p.M1V
SDHA:NM_001330758:exon1:c.A1G:p.M1V
SDHA:NM_004168:exon1:c.A1G:p.M1V
nonsynonymous SNVSO:0001583|missense_variant2396610Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
Paragangliomas_5
not_provided
6615223624rs142441643(chr5-223624-CtoT)CTSDHASDHA:NM_001294332:exon2:c.C91T:p.R31X
SDHA:NM_001330758:exon2:c.C91T:p.R31X
SDHA:NM_004168:exon2:c.C91T:p.R31X
stopgainSO:0001587|nonsense1426010Hereditary_cancer-predisposing_syndrome
Pilocytic_astrocytoma
Mitochondrial_complex_II_deficiency
Carney_triad
Paragangliomas_5
not_provided
6625226094rs775827529(chr5-226094-CtoT)CTSDHASDHA:NM_001294332:exon4:c.C409T:p.Q137X
SDHA:NM_001330758:exon5:c.C553T:p.Q185X
SDHA:NM_004168:exon5:c.C553T:p.Q185X
stopgainSO:0001587|nonsense4807710Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
Paragangliomas_5
6635233742rs754307527(chr5-233742-TGto-)TG'-SDHASDHA:NM_001294332:exon7:c.902_903del:p.L301fs
SDHA:NM_001330758:exon8:c.1046_1047del:p.L349fs
SDHA:NM_004168:exon8:c.1046_1047del:p.L349fs
frameshift deletion'-'-0.
664523509145rs766916228(chr5-23509145-GtoA)GAPRDM9PRDM9:NM_001310214:exon2:c.G3A:p.M1I
PRDM9:NM_020227:exon2:c.G3A:p.M1I
nonsynonymous SNV'-'-0.
665523509578rs761472771(chr5-23509578-GtoT)GTPRDM9..'-'-0.
666523510064rs201284800(chr5-23510064-CtoT)CTPRDM9PRDM9:NM_001310214:exon4:c.C229T:p.R77X
PRDM9:NM_020227:exon4:c.C229T:p.R77X
stopgain'-'-0.
667523522412rs766825981(chr5-23522412-GtoA)GAPRDM9..'-'-0.
668523523408rs752952955(chr5-23523408-Gto-)G'-PRDM9PRDM9:NM_001310214:exon9:c.891delG:p.K297fs
PRDM9:NM_020227:exon9:c.891delG:p.K297fs
frameshift deletion'-'-0.
669523524525rs763308508(chr5-23524525-CtoT)CTPRDM9PRDM9:NM_001310214:exon10:c.C1033T:p.R345X
PRDM9:NM_020227:exon10:c.C1033T:p.R345X
stopgain'-'-0.
670523526379.(chr5-23526379-TtoA)TAPRDM9PRDM9:NM_001310214:exon11:c.T1182A:p.C394X
PRDM9:NM_020227:exon11:c.T1182A:p.C394X
stopgain'-'-0.
671523527664.(chr5-23527664-CtoT)CTPRDM9PRDM9:NM_001310214:exon11:c.C2467T:p.Q823X
PRDM9:NM_020227:exon11:c.C2467T:p.Q823X
stopgain'-'-0.
672523527748rs373686049(chr5-23527748-CtoT)CTPRDM9PRDM9:NM_001310214:exon11:c.C2551T:p.Q851X
PRDM9:NM_020227:exon11:c.C2551T:p.Q851X
stopgain'-'-0.
673523527861rs748406023(chr5-23527861-CtoG)CGPRDM9PRDM9:NM_001310214:exon11:c.C2664G:p.Y888X
PRDM9:NM_020227:exon11:c.C2664G:p.Y888X
stopgain'-'-0.
6745251219rs766667009(chr5-251219-GtoT)GTSDHA..SO:0001575|splice_donor_variant
SO:0001627|intron_variant
2311730Hereditary_cancer-predisposing_syndrome
Mitochondrial_complex_II_deficiency
Paragangliomas_5
675626091269rs28934597(chr6-26091269-GtoC)GCHFEHFE:NM_000410:exon2:c.G277C:p.G93R
HFE:NM_001300749:exon2:c.G277C:p.G93R
HFE:NM_139003:exon2:c.G277C:p.G93R
HFE:NM_139004:exon2:c.G277C:p.G93R
HFE:NM_139006:exon2:c.G277C:p.G93R
HFE:NM_139009:exon2:c.G208C:p.G70R
nonsynonymous SNVSO:0001583|missense_variant
SO:0001627|intron_variant
130Hemochromatosis_type_1
676626091269rs773296212(chr6-26091269-Gto-)G'-HFEHFE:NM_000410:exon2:c.277delG:p.G93fs
HFE:NM_001300749:exon2:c.277delG:p.G93fs
HFE:NM_139003:exon2:c.277delG:p.G93fs
HFE:NM_139004:exon2:c.277delG:p.G93fs
HFE:NM_139006:exon2:c.277delG:p.G93fs
HFE:NM_139009:exon2:c.208delG:p.G70fs
frameshift deletion'-'-0.
677635423630rs121434505(chr6-35423630-CtoT)CTFANCEFANCE:NM_021922:exon2:c.C355T:p.Q119XstopgainSO:0001587|nonsense87090Fanconi_anemia,_complementation_group_E
678643555226rs767433001(chr6-43555226-GtoT)GTPOLHPOLH:NM_001291970:exon4:c.G490T:p.E164X
POLH:NM_006502:exon4:c.G490T:p.E164X
stopgainSO:0001587|nonsense
SO:0001627|intron_variant
2254440Xeroderma_pigmentosum,_variant_type
679643568829rs772570523(chr6-43568829-GtoA)GAPOLH..SO:0001575|splice_donor_variant2240620Xeroderma_pigmentosum,_variant_type
6807116417464rs121913243(chr7-116417464-AtoG)AGMETMET:NM_001324402:exon15:c.A1991G:p.H664R
MET:NM_000245:exon16:c.A3281G:p.H1094R
MET:NM_001127500:exon16:c.A3335G:p.H1112R
nonsynonymous SNVSO:0001583|missense_variant138870Renal_cell_carcinoma,_papillary,_1
Kidney_Carcinoma
not_provided
6817124464069rs758673417(chr7-124464069-TAto-)TA'-POT1POT1:NM_001042594:exon18:c.1458_1459del:p.D486fs
POT1:NM_015450:exon19:c.1851_1852del:p.D617fs
frameshift deletion'-'-0Melanoma,_cutaneous_malignant,_susceptibility_to,_10
Glioma_susceptibility_9
6827124465332rs771968149(chr7-124465332-ATto-)AT'-POT1POT1:NM_001042594:exon17:c.1372_1373del:p.M458fs
POT1:NM_015450:exon18:c.1765_1766del:p.M589fs
frameshift deletion'-'-0Melanoma,_cutaneous_malignant,_susceptibility_to,_10
6837124481102rs758341603(chr7-124481102-GtoA)GAPOT1POT1:NM_001042594:exon13:c.C901T:p.R301X
POT1:NM_015450:exon14:c.C1294T:p.R432X
stopgainSO:0001587|nonsense5418760Melanoma,_cutaneous_malignant,_susceptibility_to,_10
6847124481233rs866612394(chr7-124481233-CtoT)CTPOT1..SO:0001574|splice_acceptor_variant4750260Melanoma,_cutaneous_malignant,_susceptibility_to,_10
6857124482937rs756198077(chr7-124482937-GtoA)GAPOT1POT1:NM_001042594:exon12:c.C694T:p.R232X
POT1:NM_015450:exon13:c.C1087T:p.R363X
stopgainSO:0001587|nonsense4750190Melanoma,_cutaneous_malignant,_susceptibility_to,_10
6867124482952rs750470470(chr7-124482952--toA)'-APOT1POT1:NM_001042594:exon12:c.678dupT:p.Q227fs
POT1:NM_015450:exon13:c.1071dupT:p.Q358fs
frameshift insertion'-'-0Melanoma,_cutaneous_malignant,_susceptibility_to,_10
not_provided
6877124503691.(chr7-124503691--toA)'-APOT1POT1:NM_015450:exon8:c.258dupT:p.Q87fsframeshift insertion'-'-0.
6887142459789rs111033565(chr7-142459789-GtoA)GAPRSS1PRSS1:NM_002769:exon3:c.G365A:p.R122Hnonsynonymous SNVSO:0001583|missense_variant118760Hereditary_pancreatitis
not_provided
68976018306rs63750695(chr7-6018306-AGTTAto-)AGTTA'-PMS2PMS2:NM_001322008:exon11:c.1874_1878del:p.L625fs
PMS2:NM_001322010:exon11:c.1631_1635del:p.L544fs
PMS2:NM_001322004:exon12:c.1787_1791del:p.L596fs
PMS2:NM_001322006:exon12:c.2036_2040del:p.L679fs
PMS2:NM_001322007:exon12:c.1874_1878del:p.L625fs
PMS2:NM_001322013:exon12:c.1619_1623del:p.L540fs
PMS2:NM_000535:exon13:c.2192_2196del:p.L731fs
PMS2:NM_001322003:exon13:c.1787_1791del:p.L596fs
PMS2:NM_001322005:exon13:c.1787_1791del:p.L596fs
PMS2:NM_001322009:exon13:c.1787_1791del:p.L596fs
PMS2:NM_001322011:exon13:c.1259_1263del:p.L420fs
PMS2:NM_001322012:exon13:c.1259_1263del:p.L420fs
PMS2:NM_001322014:exon13:c.2192_2196del:p.L731fs
PMS2:NM_001322015:exon13:c.1883_1887del:p.L628fs
frameshift deletion'-'-0Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_provided
69076026386rs771928911(chr7-6026386-TTACCto-)TTACC'-PMS2PMS2:NM_001322008:exon9:c.1688_1688del:p.S563fs
PMS2:NM_001322010:exon9:c.1445_1445del:p.S482fs
PMS2:NM_001322004:exon10:c.1601_1601del:p.S534fs
PMS2:NM_001322006:exon10:c.1850_1850del:p.S617fs
PMS2:NM_001322007:exon10:c.1688_1688del:p.S563fs
PMS2:NM_001322013:exon10:c.1433_1433del:p.S478fs
PMS2:NM_000535:exon11:c.2006_2006del:p.S669fs
PMS2:NM_001322003:exon11:c.1601_1601del:p.S534fs
PMS2:NM_001322005:exon11:c.1601_1601del:p.S534fs
PMS2:NM_001322009:exon11:c.1601_1601del:p.S534fs
PMS2:NM_001322011:exon11:c.1073_1073del:p.S358fs
PMS2:NM_001322012:exon11:c.1073_1073del:p.S358fs
PMS2:NM_001322014:exon11:c.2006_2006del:p.S669fs
PMS2:NM_001322015:exon11:c.1697_1697del:p.S566fs
frameshift deletion'-'-0.
69176026514rs63750451(chr7-6026514-GtoA)GAPMS2PMS2:NM_001322008:exon9:c.C1564T:p.R522X
PMS2:NM_001322010:exon9:c.C1321T:p.R441X
PMS2:NM_001322004:exon10:c.C1477T:p.R493X
PMS2:NM_001322006:exon10:c.C1726T:p.R576X
PMS2:NM_001322007:exon10:c.C1564T:p.R522X
PMS2:NM_001322013:exon10:c.C1309T:p.R437X
PMS2:NM_000535:exon11:c.C1882T:p.R628X
PMS2:NM_001322003:exon11:c.C1477T:p.R493X
PMS2:NM_001322005:exon11:c.C1477T:p.R493X
PMS2:NM_001322009:exon11:c.C1477T:p.R493X
PMS2:NM_001322011:exon11:c.C949T:p.R317X
PMS2:NM_001322012:exon11:c.C949T:p.R317X
PMS2:NM_001322014:exon11:c.C1882T:p.R628X
PMS2:NM_001322015:exon11:c.C1573T:p.R525X
stopgainSO:0001587|nonsense92420Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_provided
69276026564rs63750250(chr7-6026564--toT)'-TPMS2PMS2:NM_001322008:exon9:c.1513dupA:p.I505fs
PMS2:NM_001322010:exon9:c.1270dupA:p.I424fs
PMS2:NM_001322004:exon10:c.1426dupA:p.I476fs
PMS2:NM_001322006:exon10:c.1675dupA:p.I559fs
PMS2:NM_001322007:exon10:c.1513dupA:p.I505fs
PMS2:NM_001322013:exon10:c.1258dupA:p.I420fs
PMS2:NM_000535:exon11:c.1831dupA:p.I611fs
PMS2:NM_001322003:exon11:c.1426dupA:p.I476fs
PMS2:NM_001322005:exon11:c.1426dupA:p.I476fs
PMS2:NM_001322009:exon11:c.1426dupA:p.I476fs
PMS2:NM_001322011:exon11:c.898dupA:p.I300fs
PMS2:NM_001322012:exon11:c.898dupA:p.I300fs
PMS2:NM_001322014:exon11:c.1831dupA:p.I611fs
PMS2:NM_001322015:exon11:c.1522dupA:p.I508fs
frameshift insertion'-'-0Lymphoma
Burkitt_lymphoma
Glioblastoma
Hereditary_nonpolyposis_colon_cancer
Acute_lymphoid_leukemia
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Lynch_syndrome_I
not_specified
not_provided
69376026709rs587778618(chr7-6026709-GtoA)GAPMS2PMS2:NM_001322008:exon9:c.C1369T:p.R457X
PMS2:NM_001322010:exon9:c.C1126T:p.R376X
PMS2:NM_001322004:exon10:c.C1282T:p.R428X
PMS2:NM_001322006:exon10:c.C1531T:p.R511X
PMS2:NM_001322007:exon10:c.C1369T:p.R457X
PMS2:NM_001322013:exon10:c.C1114T:p.R372X
PMS2:NM_000535:exon11:c.C1687T:p.R563X
PMS2:NM_001322003:exon11:c.C1282T:p.R428X
PMS2:NM_001322005:exon11:c.C1282T:p.R428X
PMS2:NM_001322009:exon11:c.C1282T:p.R428X
PMS2:NM_001322011:exon11:c.C754T:p.R252X
PMS2:NM_001322012:exon11:c.C754T:p.R252X
PMS2:NM_001322014:exon11:c.C1687T:p.R563X
PMS2:NM_001322015:exon11:c.C1378T:p.R460X
stopgainSO:0001587|nonsense1350670Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
69476026717rs757989905(chr7-6026717-CtoT)CTPMS2PMS2:NM_001322008:exon9:c.G1361A:p.C454Y
PMS2:NM_001322010:exon9:c.G1118A:p.C373Y
PMS2:NM_001322004:exon10:c.G1274A:p.C425Y
PMS2:NM_001322006:exon10:c.G1523A:p.C508Y
PMS2:NM_001322007:exon10:c.G1361A:p.C454Y
PMS2:NM_001322013:exon10:c.G1106A:p.C369Y
PMS2:NM_000535:exon11:c.G1679A:p.C560Y
PMS2:NM_001322003:exon11:c.G1274A:p.C425Y
PMS2:NM_001322005:exon11:c.G1274A:p.C425Y
PMS2:NM_001322009:exon11:c.G1274A:p.C425Y
PMS2:NM_001322011:exon11:c.G746A:p.C249Y
PMS2:NM_001322012:exon11:c.G746A:p.C249Y
PMS2:NM_001322014:exon11:c.G1679A:p.C560Y
PMS2:NM_001322015:exon11:c.G1370A:p.C457Y
nonsynonymous SNVSO:0001583|missense_variant4556660Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
69576027179rs759692592(chr7-6027179-AtoT)ATPMS2PMS2:NM_001322008:exon9:c.T899A:p.L300X
PMS2:NM_001322010:exon9:c.T656A:p.L219X
PMS2:NM_001322004:exon10:c.T812A:p.L271X
PMS2:NM_001322006:exon10:c.T1061A:p.L354X
PMS2:NM_001322007:exon10:c.T899A:p.L300X
PMS2:NM_001322013:exon10:c.T644A:p.L215X
PMS2:NM_000535:exon11:c.T1217A:p.L406X
PMS2:NM_001322003:exon11:c.T812A:p.L271X
PMS2:NM_001322005:exon11:c.T812A:p.L271X
PMS2:NM_001322009:exon11:c.T812A:p.L271X
PMS2:NM_001322011:exon11:c.T284A:p.L95X
PMS2:NM_001322012:exon11:c.T284A:p.L95X
PMS2:NM_001322014:exon11:c.T1217A:p.L406X
PMS2:NM_001322015:exon11:c.T908A:p.L303X
stopgain'-'-0.
69676029461.(chr7-6029461--toTA)'-TAPMS2PMS2:NM_001322008:exon8:c.795_796insTA:p.V266_S267delinsX
PMS2:NM_001322004:exon9:c.708_709insTA:p.V237_S238delinsX
PMS2:NM_001322007:exon9:c.795_796insTA:p.V266_S267delinsX
PMS2:NM_001322013:exon9:c.540_541insTA:p.V181_S182delinsX
PMS2:NM_000535:exon10:c.1113_1114insTA:p.V372_S373delinsX
PMS2:NM_001322003:exon10:c.708_709insTA:p.V237_S238delinsX
PMS2:NM_001322005:exon10:c.708_709insTA:p.V237_S238delinsX
PMS2:NM_001322009:exon10:c.708_709insTA:p.V237_S238delinsX
PMS2:NM_001322011:exon10:c.180_181insTA:p.V61_S62delinsX
PMS2:NM_001322012:exon10:c.180_181insTA:p.V61_S62delinsX
PMS2:NM_001322014:exon10:c.1113_1114insTA:p.V372_S373delinsX
PMS2:NM_001322015:exon10:c.804_805insTA:p.V269_S270delinsX
stopgain'-'-0.
69776029587rs587780064(chr7-6029587-CtoA)CAPMS2..SO:0001574|splice_acceptor_variant
SO:0001627|intron_variant
1278020Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
not_provided
69876043320rs113517055(chr7-6043320-CtoT)CTPMS2..SO:0001575|splice_donor_variant
SO:0001627|intron_variant
2346520Hereditary_nonpolyposis_colon_cancer
not_provided
69976043425rs587779340(chr7-6043425-TtoA)TAPMS2..SO:0001574|splice_acceptor_variant
SO:0001627|intron_variant
1838930Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_provided
70076043613rs143162541(chr7-6043613-GtoA)GAPMS2PMS2:NM_001322008:exon2:c.C25T:p.R9X
PMS2:NM_001322007:exon3:c.C25T:p.R9X
stopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
SO:0001819|synonymous_variant
1387050Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
not_specified
not_provided
70176045602rs750777196(chr7-6045602-Ato-)A'-PMS2PMS2:NM_000535:exon2:c.84delT:p.S28fs
PMS2:NM_001322006:exon2:c.84delT:p.S28fs
PMS2:NM_001322014:exon2:c.84delT:p.S28fs
frameshift deletion'-'-0.
70276048627rs587782074(chr7-6048627-CtoA)CAPMS2..SO:0001575|splice_donor_variant
SO:0001623|5_prime_UTR_variant
1418710Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
not_provided
70376048649rs587780059(chr7-6048649-AtoG)AGPMS2PMS2:NM_000535:exon1:c.T2C:p.M1T
PMS2:NM_001322006:exon1:c.T2C:p.M1T
PMS2:NM_001322014:exon1:c.T2C:p.M1T
nonsynonymous SNVSO:0001583|missense_variant
SO:0001623|5_prime_UTR_variant
1277880Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Hereditary_nonpolyposis_colorectal_cancer_type_4
not_provided
70476048650rs587779333(chr7-6048650-TtoA)TAPMS2PMS2:NM_000535:exon1:c.A1T:p.M1L
PMS2:NM_001322006:exon1:c.A1T:p.M1L
PMS2:NM_001322014:exon1:c.A1T:p.M1L
nonsynonymous SNVSO:0001583|missense_variant
SO:0001623|5_prime_UTR_variant
1427770Hereditary_nonpolyposis_colon_cancer
Hereditary_cancer-predisposing_syndrome
Lynch_syndrome
not_provided
705766453459rs113993998(chr7-66453459-GtoA)GASBDSSBDS:NM_016038:exon5:c.C652T:p.R218XstopgainSO:0001587|nonsense215450Shwachman_syndrome
7068118812031rs764391436(chr8-118812031-GtoA)GAEXT1EXT1:NM_000127:exon11:c.C2161T:p.Q721Xstopgain'-'-0.
7078145738492rs752729755(chr8-145738492-ATto-)AT'-RECQL4RECQL4:NM_004260:exon16:c.2492_2493del:p.H831fsframeshift deletion'-'-0Rothmund-Thomson_syndrome
Baller-Gerold_syndrome
7088145738522rs398124117(chr8-145738522-CtoG)CGRECQL4..SO:0001574|splice_acceptor_variant948890Rothmund-Thomson_syndrome
Baller-Gerold_syndrome
7098145740367rs386833845(chr8-145740367-Ato-)A'-RECQL4RECQL4:NM_004260:exon9:c.1573delT:p.C525fsframeshift deletion'-'-0Rothmund-Thomson_syndrome
Baller-Gerold_syndrome
Rapadilino_syndrome
710830938648rs17847577(chr8-30938648-CtoT)CTWRNWRN:NM_000553:exon9:c.C1105T:p.R369XstopgainSO:0001587|nonsense54490Medulloblastoma
Werner_syndrome
711890955525rs730881864(chr8-90955525-GtoA)GANBNNBN:NM_002485:exon14:c.C2140T:p.R714X
NBN:NM_001024688:exon15:c.C1894T:p.R632X
stopgainSO:0001587|nonsense1827370Aplastic_anemia
Acute_lymphoid_leukemia
Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_provided
712890955548rs730881857(chr8-90955548-GtoC)GCNBNNBN:NM_002485:exon14:c.C2117G:p.S706X
NBN:NM_001024688:exon15:c.C1871G:p.S624X
stopgainSO:0001587|nonsense1827280Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_provided
713890967766rs587781969(chr8-90967766-Gto-)G'-NBNNBN:NM_002485:exon10:c.1142delC:p.P381fs
NBN:NM_001024688:exon11:c.896delC:p.P299fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_provided
714890983402rs587780100(chr8-90983402-TGTTto-)TGTT'-NBNNBN:NM_002485:exon6:c.698_701del:p.K233fs
NBN:NM_001024688:exon7:c.452_455del:p.K151fs
frameshift deletion'-'-0Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_provided
715890994994rs200287925(chr8-90994994-GtoA)GANBNNBN:NM_002485:exon2:c.C127T:p.R43XstopgainSO:0001587|nonsense
SO:0001623|5_prime_UTR_variant
1422030Hereditary_cancer-predisposing_syndrome
Microcephaly,_normal_intelligence_and_immunodeficiency
not_provided
7169100437861rs104894132(chr9-100437861-GtoA)GAXPAXPA:NM_000380:exon6:c.C682T:p.R228XstopgainSO:0001587|nonsense9950Xeroderma_pigmentosum,_type_1
7179135779801.(chr9-135779801-CtoA)CATSC1TSC1:NM_001162427:exon15:c.G1885T:p.G629X
TSC1:NM_000368:exon16:c.G2038T:p.G680X
TSC1:NM_001162426:exon16:c.G2035T:p.G679X
stopgain'-'-0.
7189135781317rs118203553(chr9-135781317-GtoC)GCTSC1TSC1:NM_001162427:exon14:c.C1495G:p.Q499E
TSC1:NM_000368:exon15:c.C1648G:p.Q550E
TSC1:NM_001162426:exon15:c.C1645G:p.Q549E
nonsynonymous SNVSO:0001583|missense_variant416910Hereditary_cancer-predisposing_syndrome
Tuberous_sclerosis_syndrome
Tuberous_sclerosis_1
not_specified
not_provided
719921931093rs765736538(chr9-21931093-Cto-)C'-MTAP;CDKN2A-AS1..'-'-0.
720921970974rs199901898(chr9-21970974-CtoT)CTCDKN2ACDKN2A:NM_000077:exon2:c.G384A:p.R128R
CDKN2A:NM_001195132:exon2:c.G384A:p.R128R
synonymous SNVSO:0001624|3_prime_UTR_variant
SO:0001819|synonymous_variant
1842410Hereditary_cancer-predisposing_syndrome
Hereditary_cutaneous_melanoma
Melanoma-pancreatic_cancer_syndrome
721921971139rs730881679(chr9-21971139-GtoA)GACDKN2ACDKN2A:NM_058195:exon2:c.C262T:p.R88Xstopgain'-'-0.
722921974506rs753316964(chr9-21974506--toA)'-ACDKN2ACDKN2A:NM_058197:exon1:c.320dupT:p.L107fsframeshift insertion'-'-0Melanoma-pancreatic_cancer_syndrome
723921974782rs138677674(chr9-21974782-CtoT)CTCDKN2ACDKN2A:NM_000077:exon1:c.G45A:p.W15X
CDKN2A:NM_001195132:exon1:c.G45A:p.W15X
CDKN2A:NM_058197:exon1:c.G45A:p.W15X
stopgain'-'-0.
724921994233rs779306249(chr9-21994233--toC)'-CCDKN2ACDKN2A:NM_058195:exon1:c.97dupG:p.E33fsframeshift insertion'-'-0Hereditary_cutaneous_melanoma
7259271626rs192864327(chr9-271626-GtoT)GTDOCK8..SO:0001574|splice_acceptor_variant
SO:0001636|2KB_upstream_variant
2653590Hyperimmunoglobulin_E_recurrent_infection_syndrome,_autosomal_recessive
not_provided
726935075275rs149616199(chr9-35075275-CtoG)CGFANCG..SO:0001575|splice_donor_variant67170Fanconi_anemia
Fanconi_anemia,_complementation_group_G
727935078335rs121434425(chr9-35078335-CtoA)CAFANCGFANCG:NM_004629:exon4:c.G313T:p.E105XstopgainSO:0001587|nonsense67120Fanconi_anemia
Fanconi_anemia,_complementation_group_G
728936930884.(chr9-36930884-CtoT)CTPAX5..'-'-0.
729997912338rs121917783(chr9-97912338-GtoA)GAFANCCFANCC:NM_000136:exon7:c.C553T:p.R185X
FANCC:NM_001243743:exon7:c.C553T:p.R185X
FANCC:NM_001243744:exon7:c.C553T:p.R185X
stopgainSO:0001587|nonsense120440Fanconi_anemia
Hereditary_cancer-predisposing_syndrome
Fanconi_anemia,_complementation_group_C
not_provided
730998011537rs121917784(chr9-98011537-GtoA)GAFANCCFANCC:NM_000136:exon2:c.C37T:p.Q13X
FANCC:NM_001243743:exon2:c.C37T:p.Q13X
FANCC:NM_001243744:exon2:c.C37T:p.Q13X
stopgainSO:0001587|nonsense120460Fanconi_anemia
Fanconi_anemia,_complementation_group_C
not_provided
731998238340rs776154605(chr9-98238340-Gto-)G'-PTCH1PTCH1:NM_000264:exon12:c.1704delC:p.P568fs
PTCH1:NM_001083602:exon12:c.1506delC:p.P502fs
PTCH1:NM_001083603:exon12:c.1701delC:p.P567fs
PTCH1:NM_001083604:exon12:c.1251delC:p.P417fs
PTCH1:NM_001083605:exon12:c.1251delC:p.P417fs
PTCH1:NM_001083606:exon12:c.1251delC:p.P417fs
PTCH1:NM_001083607:exon12:c.1251delC:p.P417fs
frameshift deletion'-'-0Gorlin_syndrome
732998244421rs780378700(chr9-98244421-CtoT)CTPTCH1PTCH1:NM_000264:exon4:c.G649A:p.D217N
PTCH1:NM_001083602:exon4:c.G451A:p.D151N
PTCH1:NM_001083603:exon4:c.G646A:p.D216N
PTCH1:NM_001083604:exon4:c.G196A:p.D66N
PTCH1:NM_001083605:exon4:c.G196A:p.D66N
PTCH1:NM_001083606:exon4:c.G196A:p.D66N
PTCH1:NM_001083607:exon4:c.G196A:p.D66N
nonsynonymous SNV'-'-0.
733998279099rs752765582(chr9-98279099-Cto-)C'-PTCH1PTCH1:NM_001083603:exon1:c.4delG:p.E2fsframeshift deletion'-'-0Anophthalmia_-_microphthalmia
734998279102rs755103500(chr9-98279102-TtoC)TCPTCH1PTCH1:NM_001083603:exon1:c.A1G:p.M1Vnonsynonymous SNV'-'-0.
735X153997508rs146700772(chrX-153997508-AtoC)ACDKC1DKC1:NM_001142463:exon9:c.A838C:p.S280R
DKC1:NM_001288747:exon9:c.A838C:p.S280R
DKC1:NM_001363:exon9:c.A838C:p.S280R
nonsynonymous SNVSO:0001583|missense_variant389520Dyskeratosis_congenita
Dyskeratosis_congenita_X-linked
736X66937326rs137852593(chrX-66937326-GtoT)GTARAR:NM_000044:exon5:c.G2180T:p.R727L
AR:NM_001011645:exon6:c.G584T:p.R195L
nonsynonymous SNVSO:0001583|missense_variant98490Prostate_cancer_susceptibility