ATR — 4001 ClinVar variants

All ClinVar germline ATR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2048 flagged for review →

85 Pathogenic · 10 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 93 Conflicting · 83 Benign · 45 Benign/Likely benign · 1440 Likely benign · 2204 Uncertain significance

Full ATR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2048

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ATR p.Asp1879Tyr Pathogenic No assertion criteria
Seckel syndrome 1
ATR p.Lys1665Asn Likely pathogenic No assertion criteria
Seckel syndrome 1

Predictors agree, ClinVar conflicts 46

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ATR p.Ala1232Asp Conflicting Single submitter
Seckel syndrome 1
ATR p.Ala1488Val Conflicting Single submitter
Inborn genetic diseases
ATR p.Ala344Thr Conflicting Single submitter
Inborn genetic diseases
ATR p.Ala615Thr Conflicting Single submitter
Inborn genetic diseases
ATR p.Ala880Thr Conflicting Single submitter
Inborn genetic diseases
ATR p.Arg1051Cys Conflicting Single submitter
Inborn genetic diseases
ATR p.Arg1451Trp Conflicting Single submitter
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg1503Gln Conflicting Single submitter
Inborn genetic diseases
ATR p.Arg215His Conflicting Single submitter
Inborn genetic diseases
ATR p.Arg2606Gln Conflicting Single submitter
Inborn genetic diseases
ATR p.Arg336Gln Conflicting Single submitter
ATR p.Arg515His Conflicting Single submitter
Inborn genetic diseases
ATR p.Arg635Gln Conflicting Single submitter
ATR-related disorder
ATR p.Asn1153Ser Conflicting Single submitter
Inborn genetic diseases
ATR p.Asn1436Asp Conflicting Single submitter
Inborn genetic diseases
ATR p.Asn951Ser Conflicting Single submitter
Inborn genetic diseases
ATR p.Asp2154Asn Conflicting Single submitter
Inborn genetic diseases
ATR p.Asp331Gly Conflicting Single submitter
Inborn genetic diseases
ATR p.Glu471Gln Conflicting Single submitter
Seckel syndrome 1
ATR p.Gly1539Ser Conflicting Single submitter
ATR-related disorder
ATR p.Gly2120Ala Conflicting Single submitter
Inborn genetic diseases
ATR p.His453Gln Conflicting Single submitter
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ile1145Val Conflicting Single submitter
Inborn genetic diseases
ATR p.Ile1526Val Conflicting Single submitter
Seckel syndrome 1
ATR p.Ile2267Thr Conflicting Single submitter
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ile2435Val Conflicting Single submitter
Inborn genetic diseases
ATR p.Ile97Phe Conflicting Single submitter
Inborn genetic diseases
ATR p.Leu274Phe Conflicting Single submitter
ATR p.Leu420Val Conflicting Single submitter
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Lys1228Glu Conflicting Single submitter
Inborn genetic diseases
ATR p.Lys764Glu Conflicting Single submitter
Seckel syndrome 1
ATR p.Met1617Leu Conflicting Single submitter
Inborn genetic diseases
ATR p.Met175Val Conflicting Single submitter
Inborn genetic diseases
ATR p.Met186Val Conflicting Single submitter
Inborn genetic diseases
ATR p.Met1919Thr Conflicting Single submitter
Inborn genetic diseases
ATR p.Met2299Thr Conflicting Single submitter
Inborn genetic diseases
ATR p.Pro440Ser Conflicting Single submitter
Seckel syndrome 1
ATR p.Ser1142Gly Conflicting Single submitter
Inborn genetic diseases
ATR p.Ser198Asn Conflicting Single submitter
Inborn genetic diseases
ATR p.Ser472Cys Conflicting Single submitter
Inborn genetic diseases
ATR p.Ser902Pro Conflicting Single submitter
Seckel syndrome 1
ATR p.Thr516Ala Conflicting Single submitter
ATR p.Thr64Ala Conflicting Single submitter
Seckel syndrome 1
ATR p.Val1267Ile Conflicting Single submitter
Inborn genetic diseases
ATR p.Val2491Ile Conflicting Single submitter
Seckel syndrome 1
ATR p.Val959Leu Conflicting Single submitter
Seckel syndrome 1

Predictors lean, ClinVar uncertain 1644

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1644

ATR p.Ala1009Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1195Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1195Val Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ala1231Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1266Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1413Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1598Ser Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ala1598Thr Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ala1761Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1928Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1953Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1972Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala2030Thr Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ala2030Val Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ala2165Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala2170Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala218Ser Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ala2294Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala2416Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala2575Val Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ala389Thr Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ala659Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala708Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala888Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1015Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1025His Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg1051His Uncertain significance Multiple submitters
Seckel syndrome
ATR p.Arg1082His Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg1242Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1300His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1412Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1593Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1631Cys Uncertain significance Multiple submitters
ATR p.Arg1647His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1951Gln Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Arg1951Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg2001Gln Uncertain significance Multiple submitters
ATR p.Arg2008Gln Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Arg2066Gln Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg2066Trp Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Arg2109Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg2112His Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Arg215Cys Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg215Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg224Lys Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Arg2476His Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Arg2476Ser Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg2514His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg311Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg336Trp Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg443Lys Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg515Cys Uncertain significance Multiple submitters
ATR p.Arg548Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg646Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg668Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg796Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg960Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1024Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1092Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1135Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1153Asp Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asn1153Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1410Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1459Ser Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asn1762Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1771Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1911Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1911Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn2056Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn2496Ser Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asn2578Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn2578Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn27Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn484Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn616Asp Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Asn956Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn980Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn988Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1071Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1112Gly Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Asp1187His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1187Tyr Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Asp1197Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1204Gly Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asp1243Tyr Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asp1429Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1470Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1560Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1568Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1568Val Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Asp1625Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1768Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1794Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp183Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp381Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp604His Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asp626Gly Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asp794Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp798Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp801Glu Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Asp817Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp867Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp958His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys128Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys1354Ser Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Cys1514Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys1540Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys1604Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys1983Arg Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Cys2326Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys2409Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys2634Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys413Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys753Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys954Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln1377Arg Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Gln1441His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln1575His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln1597Glu Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Gln1783His Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Gln2114Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln447His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln458Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln468Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln681Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln962His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1048Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1309Lys Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Glu1434Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1448Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1708Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1769Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1922Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1992Gly Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Glu2128Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu2426Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu254Gly Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Glu293Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu323Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu406Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu409Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu410Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu478Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu560Gln Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Glu650Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu665Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu799Lys Uncertain significance Multiple submitters
ATR p.Glu864Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gly1873Asp Uncertain significance Multiple submitters
ATR p.Gly1967Asp Uncertain significance Multiple submitters
Seckel syndrome 1

Predictors split 356

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 356

ATR p.Ala879Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1886Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg1904Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg2008Leu Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg2356His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg433His Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Arg548Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Arg989Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asn1296Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1105Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp1345Glu Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Asp1521Ala Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Asp1687Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp284Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp47His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Asp698Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys671Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Cys895Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gln1073His Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu1547Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Glu2503Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gly1065Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gly1484Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Gly1691Arg Uncertain significance Multiple submitters
ATR p.Gly1967Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.His1076Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.His1076Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.His1166Pro Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.His1531Arg Uncertain significance Multiple submitters
ATR-related disorder
ATR p.His2277Tyr Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ile12Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ile2293Val Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ile2470Val Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ile493Thr Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ile75Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Leu1212Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Leu2225Phe Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Leu396Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Lys430Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Met1175Thr Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Met1743Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Met1856Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Met2540Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Met456Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Met82Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe1033Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe1091Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe1134Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe134Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe1392Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe142Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe142Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe1446Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe222Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Phe2341Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Pro1189Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Pro1730Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Pro2229Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Pro2433Ser Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Pro262Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ser1007Asn Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ser1481Asn Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Ser1577Ile Uncertain significance Multiple submitters
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Ser2452Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ser700Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Thr2487Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Thr872Ile Uncertain significance Multiple submitters
Seckel syndrome 1
ATR p.Trp1591Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Trp651Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Tyr2067His Uncertain significance Multiple submitters
ATR p.Tyr929Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Tyr929Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Val1548Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Val1756Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATR p.Ala1006Thr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala1322Glu Uncertain significance Single submitter
ATR p.Ala1406Glu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala1682Val Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala1777Thr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala1836Thr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala1896Asp Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala399Asp Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala470Asp Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Ala708Thr Uncertain significance Single submitter
ATR p.Ala823Gly Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg106Ile Uncertain significance Single submitter
ATR p.Arg1082Gly Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg1368Leu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg1696Thr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg1803Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg1846Leu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg1853Ser Uncertain significance Single submitter
ATR p.Arg1886Gly Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg1904Gln Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg2217Cys Uncertain significance Single submitter
ATR p.Arg2387Lys Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg2387Thr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg2407Leu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg2459Cys Uncertain significance Single submitter
ATR p.Arg2459His Uncertain significance Single submitter
ATR p.Arg2459Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg2533Gln Uncertain significance Single submitter
ATR p.Arg2598Gln Uncertain significance Single submitter
ATR p.Arg2598Leu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg431Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg432Cys Uncertain significance Single submitter
ATR p.Arg668Gln Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg861Ile Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Arg989Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn1757Ile Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn1771His Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn2056Lys Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn2342Ser Uncertain significance Single submitter
ATR p.Asn2371Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn2382Lys Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn2382Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn2500Lys Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asn2500Thr Uncertain significance Single submitter
ATR p.Asn862Lys Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp1105Glu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp1365Asn Uncertain significance Single submitter
ATR p.Asp1389Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp1723Glu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp1815Val Uncertain significance Single submitter
ATR p.Asp2047Asn Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp2063His Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp2231Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp2231Val Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp2297Tyr Uncertain significance Single submitter
ATR p.Asp2352Glu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp2372Gly Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp2629Glu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp284Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp571Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp815Glu Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp867His Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Asp986His Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys116Ser Uncertain significance Single submitter
ATR p.Cys1198Trp Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys1430Arg Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys1430Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys2226Gly Uncertain significance Single submitter
ATR p.Cys2458Gly Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys376Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys38Ser Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys503Tyr Uncertain significance Single submitter
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
ATR p.Cys742Trp Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys742Tyr Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Cys790Arg Uncertain significance Single submitter
Inborn genetic diseases
ATR p.Gln1546Pro Uncertain significance Single submitter
Inborn genetic diseases

All ATR variants

Pathogenic 85

p.Arg1951Ter Multiple submitters Seckel syndrome 1
p.Gln1137Ter Multiple submitters Seckel syndrome 1
p.Leu890Ter Multiple submitters
c.4641+1G>T Single submitter Seckel syndrome 1
c.6687+2T>C Single submitter
p.Ala1098fs Single submitter
p.Ala1960fs Single submitter
p.Arg1171_Val1172insTer Single submitter
p.Arg1183Ter Single submitter
p.Arg1368Ter Single submitter
p.Arg1503Ter Single submitter
p.Arg177Ter Single submitter
p.Arg1846Ter Single submitter
p.Arg1886Ter Single submitter
p.Arg1929delinsSerTer Single submitter
p.Arg2001Ter Single submitter
p.Arg2008Ter Single submitter
p.Arg2363Ter Single submitter
p.Asn1135Ter Single submitter
p.Asn1241fs Single submitter
p.Asn2279fs Single submitter
p.Asn2518delinsLysTer Single submitter
p.Asn27fs Single submitter
p.Asp47fs Single submitter
p.Asp801fs Single submitter
p.Cys1574fs Single submitter
p.Cys2458Ter Single submitter
p.Cys96fs Single submitter
p.Gln1286Ter Single submitter
p.Gln1293fs Single submitter
p.Gln151fs Single submitter
p.Gln1638Ter Single submitter
p.Gln1677Ter Single submitter
p.Gln181Ter Single submitter
p.Gln1869fs Single submitter
p.Gln2144Ter Single submitter Inborn genetic diseases
p.Gln498Ter Single submitter
p.Gln713Ter Single submitter
p.Glu1190fs Single submitter
p.Glu148Ter Single submitter
p.Glu2155Ter Single submitter
p.Glu25Ter Single submitter
p.Glu650fs Single submitter
p.Gly882fs Single submitter
p.His1855fs Single submitter
p.Ile677fs Single submitter
p.Leu131Ter Single submitter
p.Leu150fs Single submitter
p.Leu1533fs Single submitter
p.Leu156fs Single submitter
p.Leu1633fs Single submitter
p.Leu1907fs Single submitter
p.Leu1955fs Single submitter
p.Leu2270fs Single submitter
p.Leu229fs Single submitter
p.Leu350fs Single submitter
p.Leu537fs Single submitter
p.Leu573fs Single submitter
p.Leu786fs Single submitter
p.Leu865_Lys866insTer Single submitter
p.Leu896fs Single submitter
p.Lys2351fs Single submitter
p.Met1159Ile Single submitter Seckel syndrome 1 ⚠
p.Met2339fs Single submitter
p.Phe1487fs Single submitter
p.Phe153fs Single submitter
p.Ser1038fs Single submitter
p.Ser115fs Single submitter
p.Ser1571fs Single submitter
p.Ser2317Ter Single submitter
p.Ser629fs Single submitter
p.Ser754Ter Single submitter
p.Thr1230fs Single submitter
p.Thr1640fs Single submitter
p.Trp171Ter Single submitter
p.Trp651Ter Single submitter
p.Tyr1894fs Single submitter
p.Tyr2046Ter Single submitter
p.Tyr2187fs Single submitter
p.Val1297fs Single submitter
p.Val144fs Single submitter
p.Val1740fs Single submitter
p.Val327fs Single submitter
p.Val454fs Single submitter
p.Asp1879Tyr No assertion criteria Seckel syndrome 1 ⚠

Pathogenic/Likely pathogenic 10

c.5196+1G>A Multiple submitters Cornelia de Lange syndrome 1
c.6897+464C>G Multiple submitters Seckel syndrome 1
p.Arg1015Ter Multiple submitters Seckel syndrome 1
p.Arg1653Ter Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Arg2533Ter Multiple submitters Seckel syndrome 1
p.Gln498fs Multiple submitters
p.Gln62Ter Multiple submitters ATR-related disorder
p.Ile774fs Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ile933fs Multiple submitters ATR-related disorder
p.Ser944fs Multiple submitters

Likely pathogenic 41

c.2533-1G>A Multiple submitters
c.2634-1G>A Multiple submitters
c.7042-1G>A Multiple submitters Seckel syndrome 1
p.Thr1754fs Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.152-2A>T Single submitter
c.1733-1G>A Single submitter
c.1885+1G>T Single submitter
c.2342-1G>T Single submitter
c.2806-1G>C Single submitter ATR-related disorder
c.2976+1G>A Single submitter
c.3171+1G>A Single submitter
c.3450+1G>C Single submitter
c.3451-1G>A Single submitter
c.3725+2T>C Single submitter Seckel syndrome 1
c.4504-1G>C Single submitter
c.4853-2A>G Single submitter
c.6078+1G>C Single submitter
c.6079-2A>G Single submitter
c.6319+2T>C Single submitter
c.6320-2A>C Single submitter
c.6552+1G>A Single submitter
c.6688-2A>G Single submitter
c.7193-1G>A Single submitter
c.7350-1G>C Single submitter
c.7503+1G>T Single submitter
c.7651_7655+7del Single submitter
c.7761+2T>C Single submitter
p.Ala92fs Single submitter
p.Arg2148Ter Single submitter ATR-related disorder
p.Arg2547Ter Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Arg443Ter Single submitter
p.Asp1324_Thr1327del Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp1324fs Single submitter
p.Gln1269Ter Single submitter
p.Gln1638fs Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Gln2263Ter Single submitter Seckel syndrome 1
p.Lys467Ter Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Pro2433fs Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Tyr628fs Single submitter
c.151+4A>G No assertion criteria Seckel syndrome 1
p.Lys1665Asn No assertion criteria Seckel syndrome 1 ⚠

Conflicting classifications of pathogenicity 93

c.1350-3T>C Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.152-9T>C Single submitter Seckel syndrome 1
c.1885+7G>A Single submitter Seckel syndrome 1
c.2532+8A>G Single submitter Seckel syndrome 1
c.292+15T>G Single submitter Seckel syndrome 1
c.3581+5A>G Single submitter Seckel syndrome 1
c.3820-4A>G Single submitter Seckel syndrome 1
c.4153-15T>G Single submitter Seckel syndrome 1
c.4641+15C>T Single submitter Seckel syndrome 1
c.5739-11_5739-4del Single submitter Hereditary cancer
c.59+4G>A Single submitter Seckel syndrome 1
c.6078+10T>C Single submitter Seckel syndrome 1
c.6079-14G>A Single submitter Seckel syndrome 1
c.6221+3G>A Single submitter Seckel syndrome 1
c.7041+8G>A Single submitter Seckel syndrome 1
c.7349+2T>C Single submitter Seckel syndrome 1
p.Ala1232Asp Single submitter Seckel syndrome 1 ⚠
p.Ala1488Val Single submitter Inborn genetic diseases ⚠
p.Ala2575= Single submitter Inborn genetic diseases
p.Ala344Thr Single submitter Inborn genetic diseases ⚠
p.Ala615Thr Single submitter Inborn genetic diseases ⚠
p.Ala880Thr Single submitter Inborn genetic diseases ⚠
p.Arg1015= Single submitter Inborn genetic diseases
p.Arg1051Cys Single submitter Inborn genetic diseases ⚠
p.Arg1183= Single submitter Seckel syndrome 1
p.Arg1451Trp Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg1503Gln Single submitter Inborn genetic diseases ⚠
p.Arg161= Single submitter Inborn genetic diseases
p.Arg2066= Single submitter Inborn genetic diseases
p.Arg215His Single submitter Inborn genetic diseases ⚠
p.Arg2425Ter Single submitter Seckel syndrome 1
p.Arg2606Gln Single submitter Inborn genetic diseases ⚠
p.Arg336Gln Single submitter ⚠
p.Arg515His Single submitter Inborn genetic diseases ⚠
p.Arg635Gln Single submitter ATR-related disorder ⚠
p.Asn1153Ser Single submitter Inborn genetic diseases ⚠
p.Asn1436Asp Single submitter Inborn genetic diseases ⚠
p.Asn163= Single submitter Inborn genetic diseases
p.Asn1668= Single submitter Seckel syndrome 1
p.Asn951Ser Single submitter Inborn genetic diseases ⚠
p.Asp1559= Single submitter Inborn genetic diseases
p.Asp2154Asn Single submitter Inborn genetic diseases ⚠
p.Asp331Gly Single submitter Inborn genetic diseases ⚠
p.Cys742= Single submitter Seckel syndrome 1
p.Gln1441= Single submitter Inborn genetic diseases
p.Glu471Gln Single submitter Seckel syndrome 1 ⚠
p.Glu588= Single submitter Inborn genetic diseases
p.Gly1539Ser Single submitter ATR-related disorder ⚠
p.Gly2120Ala Single submitter Inborn genetic diseases ⚠
p.His1214= Single submitter Seckel syndrome 1
p.His1684= Single submitter Seckel syndrome 1
p.His453fs Single submitter
p.His453Gln Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His735= Single submitter Inborn genetic diseases
p.Ile1145Val Single submitter Inborn genetic diseases ⚠
p.Ile1526Val Single submitter Seckel syndrome 1 ⚠
p.Ile1669= Single submitter Inborn genetic diseases
p.Ile2267Thr Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile2435Val Single submitter Inborn genetic diseases ⚠
p.Ile75= Single submitter Inborn genetic diseases
p.Ile97Phe Single submitter Inborn genetic diseases ⚠
p.Leu108= Single submitter Inborn genetic diseases
p.Leu2076Val Single submitter Inborn genetic diseases ⚠
p.Leu274Phe Single submitter ⚠
p.Leu420Val Single submitter familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Leu835= Single submitter Inborn genetic diseases
p.Leu896= Single submitter Inborn genetic diseases
p.Lys1228Glu Single submitter Inborn genetic diseases ⚠
p.Lys1557= Single submitter Inborn genetic diseases
p.Lys2320= Single submitter Inborn genetic diseases
p.Lys542= Single submitter
p.Lys764Glu Single submitter Seckel syndrome 1 ⚠
p.Met1617Leu Single submitter Inborn genetic diseases ⚠
p.Met175Val Single submitter Inborn genetic diseases ⚠
p.Met186Val Single submitter Inborn genetic diseases ⚠
p.Met1919Thr Single submitter Inborn genetic diseases ⚠
p.Met2299Thr Single submitter Inborn genetic diseases ⚠
p.Phe926Leu Single submitter Seckel syndrome 1 ⚠
p.Phe982= Single submitter Inborn genetic diseases
p.Pro440Ser Single submitter Seckel syndrome 1 ⚠
p.Ser1142Gly Single submitter Inborn genetic diseases ⚠
p.Ser198Asn Single submitter Inborn genetic diseases ⚠
p.Ser472Cys Single submitter Inborn genetic diseases ⚠
p.Ser902Pro Single submitter Seckel syndrome 1 ⚠
p.Thr146Lys Single submitter Inborn genetic diseases ⚠
p.Thr2556Ser Single submitter Seckel syndrome 1
p.Thr516Ala Single submitter ⚠
p.Thr64Ala Single submitter Seckel syndrome 1 ⚠
p.Tyr540= Single submitter Inborn genetic diseases
p.Val1023= Single submitter Seckel syndrome 1
p.Val1267Ile Single submitter Inborn genetic diseases ⚠
p.Val2491Ile Single submitter Seckel syndrome 1 ⚠
p.Val959Leu Single submitter Seckel syndrome 1 ⚠

Benign 83

c.1171-58A>C Multiple submitters
c.151+72G>A Multiple submitters
c.1885+39_1885+42del Multiple submitters hereditary neoplastic syndrome
c.1885+39T>C Multiple submitters
c.1885+63C>T Multiple submitters
c.1885+65ATTT[8] Multiple submitters Seckel syndrome 1
c.1885+67T>C Multiple submitters
c.2634-74C>T Multiple submitters
c.3450+168C>T Multiple submitters
c.3581+39del Multiple submitters hereditary neoplastic syndrome
c.4153-10del Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.4852+22dup Multiple submitters hereditary neoplastic syndrome
c.5196+109G>A Multiple submitters
c.5288+130G>A Multiple submitters
c.5381-41C>T Multiple submitters
c.5739-14_5739-9del Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.5739-7_5739-6del Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.5898+54A>G Multiple submitters
c.5898+56A>G Multiple submitters
c.5898+58A>G Multiple submitters
c.5898+68A>G Multiple submitters
c.5898+70A>G Multiple submitters
c.5898+81T>A Multiple submitters
c.5898+82A>T Multiple submitters
c.60-51A>T Multiple submitters
c.7762-174A>G Multiple submitters
p.Gln1334= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Glu650= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Glu814= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu1040= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Lys442= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Tyr1956= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Val316Ile Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Val959Met Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.1170+148_1170+149insA Single submitter
c.1170+150_1170+151insA Single submitter
c.1349+289A>G Single submitter
c.152-19del Single submitter
c.1541+6dup Single submitter
c.1733-213_1733-211del Single submitter
c.1885+43CTAT[7] Single submitter
c.1885+65ATTT[10] Single submitter
c.1885+65ATTT[7] Single submitter
c.2079-16dup Single submitter
c.2341+185G>A Single submitter
c.2341+311G>A Single submitter
c.2342-175A>G Single submitter
c.2342-51A>G Single submitter
c.2634-59GT[13] Single submitter
c.2634-61_2634-58del Single submitter
c.2805+272T>G Single submitter
c.3171+132A>G Single submitter
c.3357+128G>A Single submitter
c.3581+39dup Single submitter hereditary neoplastic syndrome
c.3582-302T>C Single submitter
c.3946-277A>T Single submitter
c.4266+120A>T Single submitter
c.4383-177C>T Single submitter
c.4383-232G>T Single submitter
c.4503+247A>G Single submitter
c.4504-263T>A Single submitter
c.4852+21C>T Single submitter
c.4852+22_4852+23dup Single submitter
c.4852+256T>C Single submitter
c.4852+39del Single submitter
c.5197-289A>G Single submitter
c.5288+248T>C Single submitter
c.5380+121C>A Single submitter
c.5739-14_5739-6delinsT Single submitter
c.5898+190C>G Single submitter
c.5898+51_5898+79del Single submitter
c.5898+67_5898+79del Single submitter
c.5898+69_5898+79del Single submitter
c.5898+71_5898+79del Single submitter
c.5898+82_5898+83insAT Single submitter
c.5898+82del Single submitter
c.6079-5dup Single submitter
c.6552+6dup Single submitter
c.6553-8dup Single submitter
c.6687+262A>G Single submitter
c.7655+169A>C Single submitter
c.7656-335G>A Single submitter
p.Asn951His Single submitter

Benign/Likely benign 45

c.1171-11del Multiple submitters
c.293-20C>T Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.3172-15A>T Multiple submitters
c.3172-19del Multiple submitters
c.3172-26T>A Multiple submitters hereditary neoplastic syndrome
c.3450+12T>C Multiple submitters
c.3725+18A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.3726-47A>G Multiple submitters hereditary neoplastic syndrome
c.4153-21dup Multiple submitters hereditary neoplastic syndrome
c.4383-47A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.4641+9A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.5898+25T>G Multiple submitters Seckel syndrome 1
c.5898+32A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.5899-8del Multiple submitters
c.7192+18T>C Multiple submitters Seckel syndrome 1
c.7192+19A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.7504-16A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.7504-17A>T Multiple submitters
p.Ala1690= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ala879= Multiple submitters Inborn genetic diseases
p.Ala948= Multiple submitters Inborn genetic diseases
p.Arg109Trp Multiple submitters Seckel syndrome 1
p.Arg2425Gln Multiple submitters hereditary neoplastic syndrome
p.Arg443Thr Multiple submitters Inborn genetic diseases
p.Asn1612Ser Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp331= Multiple submitters Inborn genetic diseases
p.Asp605= Multiple submitters hereditary neoplastic syndrome
p.Gln2625= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Gln39= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Gly592= Multiple submitters hereditary neoplastic syndrome
p.His2242= Multiple submitters Inborn genetic diseases
p.His90Tyr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ile141= Multiple submitters Inborn genetic diseases
p.Leu1400= Multiple submitters Inborn genetic diseases
p.Leu1588= Multiple submitters Inborn genetic diseases
p.Lys297Asn Multiple submitters hereditary neoplastic syndrome
p.Met1996Thr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Phe1234= Multiple submitters Inborn genetic diseases
p.Pro2434Ala Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ser1607Asn Multiple submitters Seckel syndrome 1
p.Ser272= Multiple submitters Seckel syndrome 1
p.Tyr1736= Multiple submitters hereditary neoplastic syndrome
p.Tyr1820= Multiple submitters hereditary neoplastic syndrome
p.Tyr2132Asp Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Val2113= Multiple submitters Seckel syndrome 1

Likely benign 1440

Showing the top 300 by review status; the full set is in the sitemap.

c.1170+16G>C Multiple submitters
c.1350-16A>G Multiple submitters
c.1350-4A>G Multiple submitters
c.151+9C>T Multiple submitters
c.1733-196A>G Multiple submitters
c.1885+19G>A Multiple submitters
c.1885+71T>C Multiple submitters
c.1885+9T>G Multiple submitters
c.2079-8T>A Multiple submitters
c.2341+15C>G Multiple submitters
c.2342-96G>A Multiple submitters
c.2342-9G>A Multiple submitters
c.2532+35G>A Multiple submitters
c.2633+20T>C Multiple submitters
c.2805+13G>A Multiple submitters
c.2806-19A>G Multiple submitters
c.293-43G>A Multiple submitters
c.2976+15A>G Multiple submitters
c.2977-14G>A Multiple submitters
c.2977-97T>C Multiple submitters
c.3171+19A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.3171+44G>A Multiple submitters
c.3171+47T>C Multiple submitters
c.3172-19T>A Multiple submitters
c.3451-22G>C Multiple submitters
c.3451-4A>G Multiple submitters
c.3581+55A>G Multiple submitters
c.3582-13T>C Multiple submitters
c.3945+11A>G Multiple submitters
c.3946-19C>T Multiple submitters
c.3946-48C>A Multiple submitters
c.4153-11T>C Multiple submitters
c.4267-12A>G Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
c.4383-19_4383-16del Multiple submitters Seckel syndrome 1
c.4383-41G>A Multiple submitters
c.5558+17A>G Multiple submitters
c.5739-10C>A Multiple submitters
c.5739-9T>C Multiple submitters
c.5898+52A>G Multiple submitters
c.5898+60A>G Multiple submitters
c.5898+62A>G Multiple submitters
c.5899-96A>G Multiple submitters
c.60-20G>T Multiple submitters
c.6222-10A>G Multiple submitters
c.6319+15G>A Multiple submitters
c.6320-138G>A Multiple submitters
c.6320-13T>C Multiple submitters
c.6897+88A>G Multiple submitters
c.6898-15C>T Multiple submitters
c.7041+46T>A Multiple submitters
c.7656-19A>G Multiple submitters
c.7761+279T>A Multiple submitters
p.Ala1266= Multiple submitters Inborn genetic diseases
p.Ala1346= Multiple submitters Inborn genetic diseases
p.Ala1406= Multiple submitters Inborn genetic diseases
p.Ala1418= Multiple submitters Inborn genetic diseases
p.Ala1420= Multiple submitters Inborn genetic diseases
p.Ala1495= Multiple submitters Inborn genetic diseases
p.Ala1554= Multiple submitters Inborn genetic diseases
p.Ala1650= Multiple submitters Inborn genetic diseases
p.Ala1698= Multiple submitters Seckel syndrome 1
p.Ala1828= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ala1947= Multiple submitters Inborn genetic diseases
p.Ala2175= Multiple submitters Inborn genetic diseases
p.Ala248= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ala465= Multiple submitters Inborn genetic diseases
p.Ala494= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ala501= Multiple submitters Seckel syndrome 1
p.Ala614= Multiple submitters Inborn genetic diseases
p.Ala654= Multiple submitters Inborn genetic diseases
p.Ala853= Multiple submitters Inborn genetic diseases
p.Ala888= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ala901= Multiple submitters Inborn genetic diseases
p.Ala907= Multiple submitters Inborn genetic diseases
p.Ala92= Multiple submitters Seckel syndrome 1
p.Arg1025= Multiple submitters Inborn genetic diseases
p.Arg1026= Multiple submitters Inborn genetic diseases
p.Arg106= Multiple submitters Inborn genetic diseases
p.Arg1171= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Arg1368= Multiple submitters Inborn genetic diseases
p.Arg1647= Multiple submitters Inborn genetic diseases
p.Arg1951= Multiple submitters Inborn genetic diseases
p.Arg2109= Multiple submitters Inborn genetic diseases
p.Arg2217= Multiple submitters Inborn genetic diseases
p.Arg2407= Multiple submitters Inborn genetic diseases
p.Arg2476= Multiple submitters Inborn genetic diseases
p.Arg2541= Multiple submitters Inborn genetic diseases
p.Arg34= Multiple submitters Inborn genetic diseases
p.Arg960= Multiple submitters Inborn genetic diseases
p.Arg993= Multiple submitters Inborn genetic diseases
p.Asn101= Multiple submitters Seckel syndrome 1
p.Asn1031= Multiple submitters Inborn genetic diseases
p.Asn1296= Multiple submitters Seckel syndrome 1
p.Asn1436= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asn1757= Multiple submitters Inborn genetic diseases
p.Asn1771= Multiple submitters Inborn genetic diseases
p.Asn1942= Multiple submitters Inborn genetic diseases
p.Asn2496= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asn2500= Multiple submitters Inborn genetic diseases
p.Asn2607= Multiple submitters Inborn genetic diseases
p.Asn956= Multiple submitters Inborn genetic diseases
p.Asn980= Multiple submitters Inborn genetic diseases
p.Asp1298= Multiple submitters Inborn genetic diseases
p.Asp1470= Multiple submitters Inborn genetic diseases
p.Asp2063= Multiple submitters Inborn genetic diseases
p.Asp2330= Multiple submitters Inborn genetic diseases
p.Asp2335= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp2475= Multiple submitters Inborn genetic diseases
p.Asp2494= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp60= Multiple submitters Inborn genetic diseases
p.Asp626= Multiple submitters Seckel syndrome 1
p.Asp698= Multiple submitters Inborn genetic diseases
p.Asp794= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp958= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp986= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Cys2490= Multiple submitters Inborn genetic diseases
p.Cys2634= Multiple submitters Inborn genetic diseases
p.Gln1070= Multiple submitters Inborn genetic diseases
p.Gln1124= Multiple submitters Seckel syndrome 1
p.Gln1286= Multiple submitters Inborn genetic diseases
p.Gln1546= Multiple submitters Inborn genetic diseases
p.Gln1597= Multiple submitters Inborn genetic diseases
p.Gln1845= Multiple submitters Inborn genetic diseases
p.Gln1877= Multiple submitters Inborn genetic diseases
p.Gln1977= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Gln2061= Multiple submitters Inborn genetic diseases
p.Gln2137= Multiple submitters Inborn genetic diseases
p.Gln2174= Multiple submitters Inborn genetic diseases
p.Gln2263= Multiple submitters Inborn genetic diseases
p.Gln2597= Multiple submitters Inborn genetic diseases
p.Gln2600= Multiple submitters Inborn genetic diseases
p.Gln287= Multiple submitters Inborn genetic diseases
p.Gln510= Multiple submitters Inborn genetic diseases
p.Gln633= Multiple submitters Inborn genetic diseases
p.Gln750= Multiple submitters Inborn genetic diseases
p.Glu1061= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Glu1399= Multiple submitters Inborn genetic diseases
p.Glu1452= Multiple submitters Inborn genetic diseases
p.Glu1602= Multiple submitters Seckel syndrome 1
p.Glu1986= Multiple submitters Inborn genetic diseases
p.Glu2128= Multiple submitters Inborn genetic diseases
p.Glu2301= Multiple submitters Inborn genetic diseases
p.Glu2359= Multiple submitters Inborn genetic diseases
p.Glu2378= Multiple submitters Inborn genetic diseases
p.Glu2405= Multiple submitters Inborn genetic diseases
p.Glu2438= Multiple submitters Inborn genetic diseases
p.Gly1084= Multiple submitters Inborn genetic diseases
p.Gly1109= Multiple submitters Seckel syndrome 1
p.Gly1378= Multiple submitters Inborn genetic diseases
p.Gly166= Multiple submitters Inborn genetic diseases
p.Gly1795= Multiple submitters Inborn genetic diseases
p.Gly1842= Multiple submitters Inborn genetic diseases
p.Gly2213= Multiple submitters Inborn genetic diseases
p.Gly2472= Multiple submitters Inborn genetic diseases
p.Gly394= Multiple submitters Inborn genetic diseases
p.Gly481= Multiple submitters Inborn genetic diseases
p.Gly5= Multiple submitters Inborn genetic diseases
p.Gly736= Multiple submitters Inborn genetic diseases
p.His1166Arg Multiple submitters Inborn genetic diseases
p.His1235= Multiple submitters Inborn genetic diseases
p.His1302= Multiple submitters Inborn genetic diseases
p.His1606= Multiple submitters Inborn genetic diseases
p.His1737= Multiple submitters Inborn genetic diseases
p.His2129= Multiple submitters Inborn genetic diseases
p.His2151= Multiple submitters Inborn genetic diseases
p.His2153= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.His2277= Multiple submitters Inborn genetic diseases
p.His2289= Multiple submitters Inborn genetic diseases
p.His2437= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.His2477= Multiple submitters Inborn genetic diseases
p.His2591= Multiple submitters Inborn genetic diseases
p.His2619= Multiple submitters Inborn genetic diseases
p.His2621= Multiple submitters Inborn genetic diseases
p.His522= Multiple submitters Inborn genetic diseases
p.His602= Multiple submitters Inborn genetic diseases
p.His719= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.His966= Multiple submitters Inborn genetic diseases
p.Ile12= Multiple submitters Inborn genetic diseases
p.Ile123= Multiple submitters Inborn genetic diseases
p.Ile1427= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ile2146= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ile2293= Multiple submitters Inborn genetic diseases
p.Ile2323= Multiple submitters Inborn genetic diseases
p.Ile244= Multiple submitters Inborn genetic diseases
p.Ile2510= Multiple submitters Inborn genetic diseases
p.Ile667= Multiple submitters Inborn genetic diseases
p.Ile691= Multiple submitters Inborn genetic diseases
p.Leu1056= Multiple submitters Inborn genetic diseases
p.Leu1080= Multiple submitters Inborn genetic diseases
p.Leu118= Multiple submitters Inborn genetic diseases
p.Leu1255= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu1287= Multiple submitters Inborn genetic diseases
p.Leu1307= Multiple submitters Inborn genetic diseases
p.Leu1361= Multiple submitters Inborn genetic diseases
p.Leu1396= Multiple submitters Inborn genetic diseases
p.Leu1424= Multiple submitters Inborn genetic diseases
p.Leu1454= Multiple submitters Inborn genetic diseases
p.Leu1483= Multiple submitters Seckel syndrome 1
p.Leu149= Multiple submitters Inborn genetic diseases
p.Leu1533= Multiple submitters Inborn genetic diseases
p.Leu1538= Multiple submitters Inborn genetic diseases
p.Leu1679= Multiple submitters Inborn genetic diseases
p.Leu1715= Multiple submitters Inborn genetic diseases
p.Leu1770= Multiple submitters Inborn genetic diseases
p.Leu1807= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu1823= Multiple submitters Inborn genetic diseases
p.Leu1854= Multiple submitters Inborn genetic diseases
p.Leu1857= Multiple submitters Inborn genetic diseases
p.Leu1867= Multiple submitters Seckel syndrome 1
p.Leu189= Multiple submitters Inborn genetic diseases
p.Leu1901= Multiple submitters Inborn genetic diseases
p.Leu1908= Multiple submitters Inborn genetic diseases
p.Leu1952= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu1963= Multiple submitters Inborn genetic diseases
p.Leu2042= Multiple submitters Inborn genetic diseases
p.Leu2093= Multiple submitters Inborn genetic diseases
p.Leu2145= Multiple submitters Inborn genetic diseases
p.Leu2246= Multiple submitters Inborn genetic diseases
p.Leu2262= Multiple submitters Inborn genetic diseases
p.Leu2393= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu2428= Multiple submitters Seckel syndrome 1
p.Leu2429= Multiple submitters Inborn genetic diseases
p.Leu2471= Multiple submitters Inborn genetic diseases
p.Leu2482= Multiple submitters Inborn genetic diseases
p.Leu2515= Multiple submitters Inborn genetic diseases
p.Leu2554= Multiple submitters Inborn genetic diseases
p.Leu2633= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu277= Multiple submitters Inborn genetic diseases
p.Leu288= Multiple submitters Inborn genetic diseases
p.Leu290= Multiple submitters Inborn genetic diseases
p.Leu322= Multiple submitters Inborn genetic diseases
p.Leu334= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu337= Multiple submitters Inborn genetic diseases
p.Leu349= Multiple submitters Inborn genetic diseases
p.Leu477= Multiple submitters Inborn genetic diseases
p.Leu499= Multiple submitters Inborn genetic diseases
p.Leu537= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu6= Multiple submitters
p.Leu618= Multiple submitters Inborn genetic diseases
p.Leu620= Multiple submitters Inborn genetic diseases
p.Leu679= Multiple submitters Inborn genetic diseases
p.Leu740= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Leu770= Multiple submitters Inborn genetic diseases
p.Leu8= Multiple submitters Seckel syndrome 1
p.Leu848= Multiple submitters Inborn genetic diseases
p.Leu897= Multiple submitters Seckel syndrome 1
p.Leu914= Multiple submitters Inborn genetic diseases
p.Leu949= Multiple submitters Inborn genetic diseases
p.Leu975= Multiple submitters Inborn genetic diseases
p.Lys1148= Multiple submitters Inborn genetic diseases
p.Lys1603= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Lys1608= Multiple submitters Inborn genetic diseases
p.Lys1780= Multiple submitters Inborn genetic diseases
p.Lys1796= Multiple submitters Inborn genetic diseases
p.Lys1812= Multiple submitters Inborn genetic diseases
p.Lys2024= Multiple submitters Inborn genetic diseases
p.Lys2395= Multiple submitters Inborn genetic diseases
p.Lys297= Multiple submitters Inborn genetic diseases
p.Lys343= Multiple submitters Inborn genetic diseases
p.Lys446= Multiple submitters Seckel syndrome 1
p.Lys469= Multiple submitters Inborn genetic diseases
p.Lys565= Multiple submitters Inborn genetic diseases
p.Lys803= Multiple submitters Inborn genetic diseases
p.Lys829= Multiple submitters Seckel syndrome 1
p.Phe1392= Multiple submitters Inborn genetic diseases
p.Phe1582= Multiple submitters Inborn genetic diseases
p.Phe1839= Multiple submitters Inborn genetic diseases
p.Phe40= Multiple submitters Inborn genetic diseases
p.Phe648= Multiple submitters Inborn genetic diseases
p.Phe768= Multiple submitters Inborn genetic diseases
p.Pro1110= Multiple submitters Seckel syndrome 1
p.Pro114= Multiple submitters Inborn genetic diseases
p.Pro1189= Multiple submitters Inborn genetic diseases
p.Pro1438= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Pro1700= Multiple submitters Inborn genetic diseases
p.Pro2051= Multiple submitters Inborn genetic diseases
p.Pro2135= Multiple submitters Inborn genetic diseases
p.Pro2261= Multiple submitters Inborn genetic diseases
p.Pro2271= Multiple submitters Inborn genetic diseases
p.Pro2285= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Pro242= Multiple submitters Inborn genetic diseases
p.Pro2445= Multiple submitters Inborn genetic diseases
p.Pro2576= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Pro2613= Multiple submitters Inborn genetic diseases
p.Pro265= Multiple submitters Inborn genetic diseases
p.Pro445= Multiple submitters Inborn genetic diseases
p.Pro597= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Pro630= Multiple submitters Inborn genetic diseases
p.Pro886= Multiple submitters Inborn genetic diseases
p.Pro950= Multiple submitters Inborn genetic diseases
p.Ser1066= Multiple submitters Inborn genetic diseases
p.Ser1099= Multiple submitters Inborn genetic diseases
p.Ser1102= Multiple submitters Inborn genetic diseases
p.Ser1115= Multiple submitters Inborn genetic diseases
p.Ser129= Multiple submitters Inborn genetic diseases
p.Ser1306= Multiple submitters Inborn genetic diseases
p.Ser1333= Multiple submitters Inborn genetic diseases
p.Ser1426= Multiple submitters Inborn genetic diseases
p.Ser1711= Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Ser1764= Multiple submitters Inborn genetic diseases

Uncertain significance 2204

Showing the top 300 by review status; the full set is in the sitemap.

c.1170+3A>G Multiple submitters Seckel syndrome 1
c.1170+5_1170+8del Multiple submitters Inborn genetic diseases
c.2532+4G>A Multiple submitters Seckel syndrome 1
c.3945+2dup Multiple submitters Seckel syndrome 1
c.5739-14G>T Multiple submitters Seckel syndrome 1
c.7041+4G>C Multiple submitters Seckel syndrome 1
p.Ala1009Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1195Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1195Val Multiple submitters Seckel syndrome 1 ⚠
p.Ala1231Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1266Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala1413Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1598Ser Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ala1598Thr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ala1761Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala1928Val Multiple submitters Inborn genetic diseases ⚠
p.Ala1953Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1972Val Multiple submitters Inborn genetic diseases ⚠
p.Ala2002Thr Multiple submitters Inborn genetic diseases
p.Ala2030Thr Multiple submitters Seckel syndrome 1 ⚠
p.Ala2030Val Multiple submitters Seckel syndrome 1 ⚠
p.Ala2165Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala2170Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala218Ser Multiple submitters Seckel syndrome 1 ⚠
p.Ala2294Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala2416Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala2575Val Multiple submitters Seckel syndrome 1 ⚠
p.Ala389Thr Multiple submitters Seckel syndrome 1 ⚠
p.Ala659Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala708Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala879Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala888Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg1015Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1025His Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg1051His Multiple submitters Seckel syndrome ⚠
p.Arg1082His Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg1242Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1300His Multiple submitters Inborn genetic diseases ⚠
p.Arg1412Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1593Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1631Cys Multiple submitters ⚠
p.Arg1647His Multiple submitters Inborn genetic diseases ⚠
p.Arg1886Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1904Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1951Gln Multiple submitters Seckel syndrome 1 ⚠
p.Arg1951Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg2001Gln Multiple submitters ⚠
p.Arg2008Gln Multiple submitters Seckel syndrome 1 ⚠
p.Arg2008Leu Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg2066Gln Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg2066Trp Multiple submitters Seckel syndrome 1 ⚠
p.Arg2109Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2112His Multiple submitters Seckel syndrome 1 ⚠
p.Arg215Cys Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg215Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg224Lys Multiple submitters Seckel syndrome 1 ⚠
p.Arg2356His Multiple submitters Inborn genetic diseases ⚠
p.Arg2407Cys Multiple submitters Inborn genetic diseases
p.Arg2407His Multiple submitters Seckel syndrome 1
p.Arg2476His Multiple submitters Seckel syndrome 1 ⚠
p.Arg2476Ser Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg2514His Multiple submitters Inborn genetic diseases ⚠
p.Arg2608fs Multiple submitters
p.Arg311Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg336Trp Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg433His Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg443Lys Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Arg515Cys Multiple submitters ⚠
p.Arg548Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg548Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg646Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg668Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg796Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg960Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg989Cys Multiple submitters
p.Arg989Leu Multiple submitters Inborn genetic diseases ⚠
p.Asn1024Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1092Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1135Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1153Asp Multiple submitters Seckel syndrome 1 ⚠
p.Asn1153Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn1296Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn1410Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn1459Ser Multiple submitters Seckel syndrome 1 ⚠
p.Asn1762Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1771Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1911Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1911Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn2056Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn2496Ser Multiple submitters Seckel syndrome 1 ⚠
p.Asn2578Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn2578Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn27Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn484Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn616Asp Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Asn956Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn980Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn988Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp1071Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1105Val Multiple submitters Inborn genetic diseases ⚠
p.Asp1112Gly Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Asp1187His Multiple submitters Inborn genetic diseases ⚠
p.Asp1187Tyr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Asp1197Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1204Gly Multiple submitters Seckel syndrome 1 ⚠
p.Asp1243Tyr Multiple submitters Seckel syndrome 1 ⚠
p.Asp1345Glu Multiple submitters Seckel syndrome 1 ⚠
p.Asp1429Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1470Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1521Ala Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Asp1560Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1568Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp1568Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Asp1625Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1687Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1768Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp1794Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp183Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp2594His Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Asp284Val Multiple submitters Inborn genetic diseases ⚠
p.Asp381Val Multiple submitters Inborn genetic diseases ⚠
p.Asp47His Multiple submitters Inborn genetic diseases ⚠
p.Asp604His Multiple submitters Seckel syndrome 1 ⚠
p.Asp626Gly Multiple submitters Seckel syndrome 1 ⚠
p.Asp698Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp794Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp798Val Multiple submitters Inborn genetic diseases ⚠
p.Asp801Glu Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Asp817Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp867Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp958His Multiple submitters Inborn genetic diseases ⚠
p.Cys128Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys128Trp Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Cys1354Ser Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Cys1514Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys1540Phe Multiple submitters Inborn genetic diseases ⚠
p.Cys1604Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys1858Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
p.Cys1983Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Cys2326Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys2409Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys2634Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys376Phe Multiple submitters Inborn genetic diseases
p.Cys413Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys671Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys753Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys895Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys954Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln1073His Multiple submitters Inborn genetic diseases ⚠
p.Gln1377Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Gln1441His Multiple submitters Inborn genetic diseases ⚠
p.Gln1575His Multiple submitters Inborn genetic diseases ⚠
p.Gln1597Glu Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Gln1783His Multiple submitters Seckel syndrome 1 ⚠
p.Gln2114Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln447His Multiple submitters Inborn genetic diseases ⚠
p.Gln458Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln468Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln681Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln962His Multiple submitters Inborn genetic diseases ⚠
p.Glu1048Val Multiple submitters Inborn genetic diseases ⚠
p.Glu1050Lys Multiple submitters Inborn genetic diseases
p.Glu1309Lys Multiple submitters Seckel syndrome 1 ⚠
p.Glu1434Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu1448Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1547Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1708Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu1769Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu1861Gln Multiple submitters Inborn genetic diseases
p.Glu1922Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1986_Pro1990del Multiple submitters
p.Glu1992Gly Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Glu2128Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu2426Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu2503Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu254Gly Multiple submitters Seckel syndrome 1 ⚠
p.Glu293Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu323Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu406Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu409Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu410Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu478Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu560Gln Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Glu650Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu665Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu799Lys Multiple submitters ⚠
p.Glu864Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly1065Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1484Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1691Arg Multiple submitters ⚠
p.Gly1873Asp Multiple submitters ⚠
p.Gly1967Asp Multiple submitters Seckel syndrome 1 ⚠
p.Gly1967Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly2275Val Multiple submitters Inborn genetic diseases ⚠
p.Gly2530Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly2571Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly2601Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly5Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly720Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Gly720Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly807Arg Multiple submitters Inborn genetic diseases ⚠
p.His1054Arg Multiple submitters Seckel syndrome 1 ⚠
p.His1076Arg Multiple submitters Inborn genetic diseases ⚠
p.His1076Asn Multiple submitters Inborn genetic diseases ⚠
p.His1086Arg Multiple submitters Inborn genetic diseases ⚠
p.His1166Pro Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His1235Arg Multiple submitters Inborn genetic diseases ⚠
p.His1258Asp Multiple submitters Inborn genetic diseases
p.His1440Arg Multiple submitters Inborn genetic diseases ⚠
p.His1440Gln Multiple submitters Inborn genetic diseases ⚠
p.His1449Tyr Multiple submitters Inborn genetic diseases ⚠
p.His1531Arg Multiple submitters ATR-related disorder ⚠
p.His1558Asp Multiple submitters Inborn genetic diseases ⚠
p.His1587Leu Multiple submitters Inborn genetic diseases
p.His1594Asn Multiple submitters Inborn genetic diseases ⚠
p.His1735Arg Multiple submitters Inborn genetic diseases
p.His1999Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His2277Tyr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His2289Tyr Multiple submitters Inborn genetic diseases ⚠
p.His2432Arg Multiple submitters Inborn genetic diseases ⚠
p.His279Tyr Multiple submitters Inborn genetic diseases ⚠
p.His348Arg Multiple submitters Inborn genetic diseases ⚠
p.His4Tyr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His506Arg Multiple submitters ⚠
p.His509Gln Multiple submitters Inborn genetic diseases ⚠
p.His664Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His787Arg Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.His891Asn Multiple submitters Inborn genetic diseases ⚠
p.His894Arg Multiple submitters Seckel syndrome 1
p.His966Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1014Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1096Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1114del Multiple submitters Seckel syndrome 1
p.Ile1114Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1216Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile1225Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1233Val Multiple submitters Inborn genetic diseases ⚠
p.Ile127Val Multiple submitters Inborn genetic diseases ⚠
p.Ile12Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1319Val Multiple submitters Seckel syndrome 1 ⚠
p.Ile141Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile141Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1478Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1499Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1564Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1569Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile1726Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1753Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile1998Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile2068Met Multiple submitters Inborn genetic diseases ⚠
p.Ile2122Met Multiple submitters Inborn genetic diseases ⚠
p.Ile2126Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile216Thr Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile217Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile2293Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile2470Val Multiple submitters Seckel syndrome 1 ⚠
p.Ile375Phe Multiple submitters Inborn genetic diseases
p.Ile408Ser Multiple submitters Seckel syndrome 1 ⚠
p.Ile408Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile41Val Multiple submitters Inborn genetic diseases ⚠
p.Ile427Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile451Val Multiple submitters Inborn genetic diseases ⚠
p.Ile461Lys Multiple submitters ⚠
p.Ile493Thr Multiple submitters Seckel syndrome 1 ⚠
p.Ile563Met Multiple submitters Inborn genetic diseases ⚠
p.Ile586Val Multiple submitters Inborn genetic diseases ⚠
p.Ile691Met Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile693Thr Multiple submitters Seckel syndrome 1 ⚠
p.Ile710Met Multiple submitters Seckel syndrome 1 ⚠
p.Ile75Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile774Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile870Val Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Ile933Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1067Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1118Met Multiple submitters Inborn genetic diseases ⚠
p.Leu1127Ser Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Leu1155Met Multiple submitters Inborn genetic diseases ⚠
p.Leu1212Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu130Phe Multiple submitters Seckel syndrome 1 ⚠
p.Leu1353Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu1633Ile Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Leu1635Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1804Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1881Pro Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Leu1901Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu213Val Multiple submitters ⚠
p.Leu2198Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu2225Phe Multiple submitters Seckel syndrome 1 ⚠
p.Leu2259Val Multiple submitters Seckel syndrome 1 ⚠
p.Leu2417Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu261Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu322Pro Multiple submitters familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ⚠
p.Leu37Met Multiple submitters Inborn genetic diseases ⚠
p.Leu393Val Multiple submitters Inborn genetic diseases ⚠
p.Leu396Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu473Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu537Phe Multiple submitters Seckel syndrome 1 ⚠
p.Leu590Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu594Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu594Pro Multiple submitters Inborn genetic diseases ⚠