RECQL4 — 4759 ClinVar variants

Pathogenic 239

• c.1390+2del Multiple submitters RECQL4-related disorder
• c.1391-1G>A Multiple submitters RECQL4-related disorder
• c.2059-1G>A Multiple submitters Baller-Gerold syndrome
• p.Ala1045fs Multiple submitters Baller-Gerold syndrome
• p.Ala368fs Multiple submitters Baller-Gerold syndrome
• p.Arg1021Trp Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg263_Trp264insTer Multiple submitters Baller-Gerold syndrome
• p.Arg350fs Multiple submitters Baller-Gerold syndrome
• p.Arg721Ter Multiple submitters RECQL4-related disorder
• p.Arg804fs Multiple submitters Baller-Gerold syndrome
• p.Arg826Ter Multiple submitters RECQL4-related disorder
• p.Arg829fs Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gln1009Ter Multiple submitters Baller-Gerold syndrome
• p.Gln173Ter Multiple submitters Baller-Gerold syndrome
• p.Gln360Ter Multiple submitters Baller-Gerold syndrome
• p.Gln471fs Multiple submitters RECQL4-related spectrum disorders
• p.Gln567Ter Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gln757Ter Multiple submitters RECQL4-related disorder
• p.Gln800Ter Multiple submitters Baller-Gerold syndrome
• p.Gln810Ter Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gln864Ter Multiple submitters Baller-Gerold syndrome
• p.Glu918Ter Multiple submitters Baller-Gerold syndrome
• p.Leu840fs Multiple submitters Baller-Gerold syndrome
• p.Phe850fs Multiple submitters RECQL4-related disorder
• p.Trp383Ter Multiple submitters Rothmund-Thomson syndrome
• p.Tyr363Ter Multiple submitters RECQL4-related disorder
• c.1390+1G>C Single submitter Baller-Gerold syndrome
• c.1390+2T>C Single submitter Baller-Gerold syndrome
• c.1391-2A>G Single submitter Baller-Gerold syndrome
• c.1704+2T>C Single submitter Baller-Gerold syndrome
• c.1878+32_1879-27del Single submitter
• c.2059-1G>C Single submitter Baller-Gerold syndrome
• c.2059-76_3204del Single submitter Baller-Gerold syndrome
• c.2464-1G>A Single submitter Baller-Gerold syndrome
• c.2886-1G>A Single submitter Baller-Gerold syndrome
• c.2886-2A>G Single submitter Baller-Gerold syndrome
• p.Ala207fs Single submitter Baller-Gerold syndrome
• p.Ala226fs Single submitter Baller-Gerold syndrome
• p.Ala232fs Single submitter Baller-Gerold syndrome
• p.Ala239fs Single submitter Baller-Gerold syndrome
• p.Ala289fs Single submitter Baller-Gerold syndrome
• p.Ala330fs Single submitter Baller-Gerold syndrome
• p.Ala337fs Single submitter Baller-Gerold syndrome
• p.Ala467fs Single submitter Baller-Gerold syndrome
• p.Ala551fs Single submitter Baller-Gerold syndrome
• p.Ala571fs Single submitter Baller-Gerold syndrome
• p.Ala587fs Single submitter Baller-Gerold syndrome
• p.Ala67fs Single submitter Baller-Gerold syndrome
• p.Ala903fs Single submitter Baller-Gerold syndrome
• p.Ala954fs Single submitter Baller-Gerold syndrome
• p.Arg1005Ter Single submitter Baller-Gerold syndrome
• p.Arg1062fs Single submitter Baller-Gerold syndrome
• p.Arg1072fs Single submitter Baller-Gerold syndrome
• p.Arg126fs Single submitter Baller-Gerold syndrome
• p.Arg193Ter Single submitter Baller-Gerold syndrome
• p.Arg19Ter Single submitter Baller-Gerold syndrome
• p.Arg418fs Single submitter Baller-Gerold syndrome
• p.Arg482fs Single submitter Baller-Gerold syndrome
• p.Arg521fs Single submitter Baller-Gerold syndrome
• p.Arg618fs Single submitter Baller-Gerold syndrome
• p.Asn699fs Single submitter Baller-Gerold syndrome
• p.Asp1042fs Single submitter Baller-Gerold syndrome
• p.Asp1093fs Single submitter Baller-Gerold syndrome
• p.Asp685fs Single submitter Baller-Gerold syndrome
• p.Asp808fs Single submitter Baller-Gerold syndrome
• p.Cys1008fs Single submitter Baller-Gerold syndrome
• p.Cys1088fs Single submitter Baller-Gerold syndrome
• p.Cys1141Ter Single submitter Baller-Gerold syndrome
• p.Cys208_Asp211delinsTer Single submitter Baller-Gerold syndrome
• p.Cys311fs Single submitter Baller-Gerold syndrome
• p.Cys403Ter Single submitter Baller-Gerold syndrome
• p.Cys525fs Single submitter Baller-Gerold syndrome
• p.Cys620Ter Single submitter Baller-Gerold syndrome
• p.Cys707fs Single submitter Baller-Gerold syndrome
• p.Cys855Ter Single submitter Fetal anomalies with a likely genetic cause
• p.Gln1009fs Single submitter Baller-Gerold syndrome
• p.Gln1050Ter Single submitter Baller-Gerold syndrome
• p.Gln1060fs Single submitter Baller-Gerold syndrome
• p.Gln1060Ter Single submitter Baller-Gerold syndrome
• p.Gln1065Ter Single submitter Baller-Gerold syndrome
• p.Gln1075Ter Single submitter Baller-Gerold syndrome
• p.Gln107fs Single submitter Baller-Gerold syndrome
• p.Gln107Ter Single submitter Baller-Gerold syndrome
• p.Gln1123Ter Single submitter Baller-Gerold syndrome
• p.Gln1133Ter Single submitter Baller-Gerold syndrome
• p.Gln1145Ter Single submitter Baller-Gerold syndrome
• p.Gln161Ter Single submitter Baller-Gerold syndrome
• p.Gln176Ter Single submitter Baller-Gerold syndrome
• p.Gln181Ter Single submitter Baller-Gerold syndrome
• p.Gln192Ter Single submitter Baller-Gerold syndrome
• p.Gln218fs Single submitter Baller-Gerold syndrome
• p.Gln235Ter Single submitter Baller-Gerold syndrome
• p.Gln253fs Single submitter Baller-Gerold syndrome
• p.Gln253Ter Single submitter Rothmund-Thomson syndrome type 2
• p.Gln304Ter Single submitter Baller-Gerold syndrome
• p.Gln306fs Single submitter Baller-Gerold syndrome
• p.Gln309Ter Single submitter Baller-Gerold syndrome
• p.Gln377Ter Single submitter Baller-Gerold syndrome
• p.Gln408fs Single submitter Baller-Gerold syndrome
• p.Gln408Ter Single submitter Baller-Gerold syndrome
• p.Gln415Ter Single submitter Baller-Gerold syndrome
• p.Gln461fs Single submitter Baller-Gerold syndrome
• p.Gln471Ter Single submitter Baller-Gerold syndrome
• p.Gln475Ter Single submitter Baller-Gerold syndrome
• p.Gln479Ter Single submitter Baller-Gerold syndrome
• p.Gln513Ter Single submitter Baller-Gerold syndrome
• p.Gln540Ter Single submitter Baller-Gerold syndrome
• p.Gln612Ter Single submitter Baller-Gerold syndrome
• p.Gln654Ter Single submitter Baller-Gerold syndrome
• p.Gln693Ter Single submitter Baller-Gerold syndrome
• p.Gln698Ter Single submitter Baller-Gerold syndrome
• p.Gln764fs Single submitter Baller-Gerold syndrome
• p.Gln800fs Single submitter Baller-Gerold syndrome
• p.Gln821Ter Single submitter Baller-Gerold syndrome
• p.Gln847Ter Single submitter Baller-Gerold syndrome
• p.Gln880fs Single submitter Baller-Gerold syndrome
• p.Gln880Ter Single submitter Baller-Gerold syndrome
• p.Gln884Ter Single submitter Baller-Gerold syndrome
• p.Gln91Ter Single submitter Baller-Gerold syndrome
• p.Gln955Ter Single submitter Baller-Gerold syndrome
• p.Gln957fs Single submitter Baller-Gerold syndrome
• p.Glu1094fs Single submitter Baller-Gerold syndrome
• p.Glu1094Ter Single submitter Baller-Gerold syndrome
• p.Glu1109fs Single submitter Baller-Gerold syndrome
• p.Glu1111fs Single submitter Baller-Gerold syndrome
• p.Glu1111Ter Single submitter Baller-Gerold syndrome
• p.Glu1112fs Single submitter Baller-Gerold syndrome
• p.Glu1112Ter Single submitter Baller-Gerold syndrome
• p.Glu224Ter Single submitter Baller-Gerold syndrome
• p.Glu301fs Single submitter Baller-Gerold syndrome
• p.Glu401fs Single submitter Baller-Gerold syndrome
• p.Glu422Ter Single submitter Baller-Gerold syndrome
• p.Glu423Ter Single submitter Baller-Gerold syndrome
• p.Glu563Ter Single submitter Baller-Gerold syndrome
• p.Glu606Ter Single submitter Baller-Gerold syndrome
• p.Glu630fs Single submitter Baller-Gerold syndrome
• p.Glu630Ter Single submitter Baller-Gerold syndrome
• p.Glu714fs Single submitter Baller-Gerold syndrome
• p.Glu71Ter Single submitter Baller-Gerold syndrome
• p.Glu74fs Single submitter Baller-Gerold syndrome
• p.Glu827Ter Single submitter Baller-Gerold syndrome
• p.Glu883delinsGlyTer Single submitter Baller-Gerold syndrome
• p.Glu917Ter Single submitter Baller-Gerold syndrome
• p.Glu928Ter Single submitter Baller-Gerold syndrome
• p.Gly1105fs Single submitter Baller-Gerold syndrome
• p.Gly229fs Single submitter Baller-Gerold syndrome
• p.Gly231fs Single submitter Baller-Gerold syndrome
• p.Gly283fs Single submitter Baller-Gerold syndrome
• p.Gly351fs Single submitter Baller-Gerold syndrome
• p.Gly366fs Single submitter Baller-Gerold syndrome
• p.Gly460fs Single submitter Baller-Gerold syndrome
• p.Gly733fs Single submitter Baller-Gerold syndrome
• p.Gly822fs Single submitter Baller-Gerold syndrome
• p.His1014fs Single submitter Baller-Gerold syndrome
• p.His1036fs Single submitter hereditary breast carcinoma
• p.His478fs Single submitter Baller-Gerold syndrome
• p.His81fs Single submitter Baller-Gerold syndrome
• p.His831fs Single submitter Baller-Gerold syndrome
• p.Ile221fs Single submitter Baller-Gerold syndrome
• p.Leu1000fs Single submitter Baller-Gerold syndrome
• p.Leu1055fs Single submitter Baller-Gerold syndrome
• p.Leu1089fs Single submitter Baller-Gerold syndrome
• p.Leu1104fs Single submitter Baller-Gerold syndrome
• p.Leu345fs Single submitter Baller-Gerold syndrome
• p.Leu374fs Single submitter Baller-Gerold syndrome
• p.Leu510fs Single submitter Baller-Gerold syndrome
• p.Leu528fs Single submitter Baller-Gerold syndrome
• p.Leu65fs Single submitter Baller-Gerold syndrome
• p.Leu664fs Single submitter Baller-Gerold syndrome
• p.Leu676fs Single submitter Baller-Gerold syndrome
• p.Leu689fs Single submitter Baller-Gerold syndrome
• p.Leu765fs Single submitter Baller-Gerold syndrome
• p.Leu923fs Single submitter Baller-Gerold syndrome
• p.Lys1048fs Single submitter Baller-Gerold syndrome
• p.Lys154fs Single submitter Baller-Gerold syndrome
• p.Lys206fs Single submitter Baller-Gerold syndrome
• p.Lys695fs Single submitter Baller-Gerold syndrome
• p.Lys695Ter Single submitter Baller-Gerold syndrome
• p.Met776fs Single submitter Baller-Gerold syndrome
• p.Phe1054fs Single submitter Baller-Gerold syndrome
• p.Phe404fs Single submitter Baller-Gerold syndrome
• p.Phe760fs Single submitter Baller-Gerold syndrome
• p.Pro140fs Single submitter Baller-Gerold syndrome
• p.Pro285fs Single submitter Baller-Gerold syndrome
• p.Pro545fs Single submitter Baller-Gerold syndrome
• p.Pro591fs Single submitter Baller-Gerold syndrome
• p.Pro793fs Single submitter Baller-Gerold syndrome
• p.Pro80fs Single submitter Baller-Gerold syndrome
• p.Pro905fs Single submitter Baller-Gerold syndrome
• p.Pro90fs Single submitter Baller-Gerold syndrome
• p.Pro950fs Single submitter Baller-Gerold syndrome
• p.Pro975fs Single submitter Baller-Gerold syndrome
• p.Ser101fs Single submitter Baller-Gerold syndrome
• p.Ser1039fs Single submitter Baller-Gerold syndrome
• p.Ser1079Ile Single submitter Baller-Gerold syndrome
• p.Ser1097fs Single submitter Baller-Gerold syndrome
• p.Ser134fs Single submitter Baller-Gerold syndrome
• p.Ser180delinsThrProTer Single submitter Baller-Gerold syndrome
• p.Ser214Ter Single submitter Baller-Gerold syndrome
• p.Ser286fs Single submitter Baller-Gerold syndrome
• p.Ser523fs Single submitter
• p.Ser611fs Single submitter Baller-Gerold syndrome
• p.Ser64Ter Single submitter Baller-Gerold syndrome
• p.Ser794fs Single submitter Baller-Gerold syndrome
• p.Thr396fs Single submitter Baller-Gerold syndrome
• p.Thr425fs Single submitter Baller-Gerold syndrome
• p.Thr527fs Single submitter Baller-Gerold syndrome
• p.Thr641fs Single submitter Baller-Gerold syndrome
• p.Thr672fs Single submitter Baller-Gerold syndrome
• p.Thr684fs Single submitter Baller-Gerold syndrome
• p.Thr713fs Single submitter
• p.Thr739fs Single submitter Baller-Gerold syndrome
• p.Thr943fs Single submitter Baller-Gerold syndrome
• p.Trp1012Ter Single submitter Baller-Gerold syndrome
• p.Trp1135Ter Single submitter Baller-Gerold syndrome
• p.Trp128Ter Single submitter Baller-Gerold syndrome
• p.Trp264Ter Single submitter Inborn genetic diseases
• p.Trp269fs Single submitter Baller-Gerold syndrome
• p.Trp269Ter Single submitter Baller-Gerold syndrome
• p.Trp379Ter Single submitter Baller-Gerold syndrome
• p.Trp412Ter Single submitter Baller-Gerold syndrome
• p.Trp613Ter Single submitter Baller-Gerold syndrome
• p.Trp728Ter Single submitter Baller-Gerold syndrome
• p.Trp934Ter Single submitter Baller-Gerold syndrome
• p.Trp998Ter Single submitter Baller-Gerold syndrome
• p.Tyr105Ter Single submitter Baller-Gerold syndrome
• p.Tyr1107Ter Single submitter Baller-Gerold syndrome
• p.Tyr454fs Single submitter Baller-Gerold syndrome
• p.Tyr621Ter Single submitter Baller-Gerold syndrome
• p.Tyr706Ter Single submitter Baller-Gerold syndrome
• p.Tyr744Ter Single submitter Baller-Gerold syndrome
• p.Tyr877Ter Single submitter Baller-Gerold syndrome
• p.Val1003fs Single submitter Baller-Gerold syndrome
• p.Val1139fs Single submitter Baller-Gerold syndrome
• p.Val155fs Single submitter Baller-Gerold syndrome
• p.Val769fs Single submitter Baller-Gerold syndrome
• p.Val802fs Single submitter Baller-Gerold syndrome
• p.Val985fs Single submitter Baller-Gerold syndrome
• c.2059-1G>T No assertion criteria Rothmund-Thomson syndrome type 2

Pathogenic/Likely pathogenic 34

• c.1131_1131+3del Multiple submitters hereditary neoplastic syndrome
• c.1259-1G>A Multiple submitters Baller-Gerold syndrome
• c.1704+1G>A Multiple submitters Baller-Gerold syndrome
• c.2464-1G>C Multiple submitters RECQL4-related disorder
• c.2755+1G>A Multiple submitters RECQL4-related spectrum disorders
• c.3056-2A>C Multiple submitters hereditary neoplastic syndrome
• c.359_374delGACCAGCCCTGGGCCG Multiple submitters Rothmund-Thomson syndrome type 2
• p.Ala291fs Multiple submitters RECQL4-related disorder
• p.Ala805_Arg807del Multiple submitters Rothmund-Thomson syndrome type 2
• p.Ala805_Gly806insTer Multiple submitters Baller-Gerold syndrome
• p.Arg347fs Multiple submitters Baller-Gerold syndrome
• p.Arg758Ter Multiple submitters Baller-Gerold syndrome
• p.Arg807fs Multiple submitters Baller-Gerold syndrome
• p.Cys389fs Multiple submitters RECQL4-related disorder
• p.Gln1114Ter Multiple submitters Baller-Gerold syndrome
• p.Gln243Ter Multiple submitters Baller-Gerold syndrome
• p.Gln573Ter Multiple submitters undifferentiated pleomorphic sarcoma
• p.Gln884fs Multiple submitters Baller-Gerold syndrome
• p.Gln888Ter Multiple submitters RECQL4-related disorder
• p.Gln907Ter Multiple submitters Baller-Gerold syndrome
• p.Gln957Ter Multiple submitters RECQL4-related disorder
• p.Glu215fs Multiple submitters Baller-Gerold syndrome
• p.Glu388Ter Multiple submitters rapadilino syndrome
• p.Leu339fs Multiple submitters Baller-Gerold syndrome
• p.Leu48fs Multiple submitters Baller-Gerold syndrome
• p.Leu818fs Multiple submitters Baller-Gerold syndrome
• p.Lys738fs Multiple submitters Baller-Gerold syndrome
• p.Pro448fs Multiple submitters Baller-Gerold syndrome
• p.Pro851fs Multiple submitters Baller-Gerold syndrome
• p.Pro879fs Multiple submitters Baller-Gerold syndrome
• p.Pro965fs Multiple submitters Baller-Gerold syndrome
• p.Ser251fs Multiple submitters Baller-Gerold syndrome
• p.Val1026fs Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gln1091Ter No assertion criteria rapadilino syndrome

Likely pathogenic 71

• c.1132-1G>A Multiple submitters Baller-Gerold syndrome
• c.1704+2T>G Multiple submitters RECQL4-related disorder
• c.1705-1G>A Multiple submitters Baller-Gerold syndrome
• c.1705-1G>C Multiple submitters Baller-Gerold syndrome
• c.214-2A>G Multiple submitters Baller-Gerold syndrome
• c.3393+1G>A Multiple submitters Baller-Gerold syndrome
• c.1098_1131+1del Single submitter RECQL4-related disorder
• c.1131+1G>A Single submitter Baller-Gerold syndrome
• c.1131+1G>C Single submitter RECQL4-related disorder
• c.1131+2_1131+5del Single submitter Baller-Gerold syndrome
• c.1132-2A>G Single submitter Baller-Gerold syndrome
• c.119-2A>C Single submitter Baller-Gerold syndrome
• c.1258+1G>A Single submitter Baller-Gerold syndrome
• c.1390+1G>A Single submitter Baller-Gerold syndrome
• c.1390+1G>T Single submitter Rothmund-Thomson syndrome
• c.1483+1G>A Single submitter Baller-Gerold syndrome
• c.1614_1620+14del Single submitter Baller-Gerold syndrome
• c.1620+1G>A Single submitter Baller-Gerold syndrome
• c.1621-2A>G Single submitter Baller-Gerold syndrome
• c.1705-1del Single submitter Baller-Gerold syndrome
• c.1879-1G>A Single submitter Baller-Gerold syndrome
• c.2058+1G>A Single submitter Baller-Gerold syndrome
• c.2058+2T>G Single submitter Baller-Gerold syndrome
• c.2200+1G>A Single submitter Baller-Gerold syndrome
• c.2200+1G>T Single submitter Baller-Gerold syndrome
• c.2200+2T>C Single submitter Baller-Gerold syndrome
• c.2201-1G>A Single submitter Baller-Gerold syndrome
• c.2463+1G>A Single submitter Baller-Gerold syndrome
• c.2463+2T>C Single submitter Baller-Gerold syndrome
• c.2756-1G>A Single submitter Baller-Gerold syndrome
• c.2866_2885+19del Single submitter Baller-Gerold syndrome
• c.2878_2885+14del Single submitter Baller-Gerold syndrome
• c.2885+1G>T Single submitter Baller-Gerold syndrome
• c.3055+1del Single submitter Baller-Gerold syndrome
• c.3055+1G>A Single submitter Baller-Gerold syndrome
• c.3055+2T>C Single submitter Baller-Gerold syndrome
• c.3056-1G>A Single submitter Baller-Gerold syndrome
• c.3056-1G>T Single submitter Baller-Gerold syndrome
• c.3056-2A>G Single submitter Baller-Gerold syndrome
• c.3056-4_3069del Single submitter Baller-Gerold syndrome
• c.3236+1G>A Single submitter Baller-Gerold syndrome
• c.3236+1G>C Single submitter Baller-Gerold syndrome
• c.3237-1G>A Single submitter Baller-Gerold syndrome
• c.3237-2A>G Single submitter Baller-Gerold syndrome
• c.3237-2A>T Single submitter Baller-Gerold syndrome
• c.3393+61_3461delinsAG Single submitter Baller-Gerold syndrome
• c.3394-1G>A Single submitter Baller-Gerold syndrome
• c.3394-1G>C Single submitter Baller-Gerold syndrome
• c.3502+1G>A Single submitter Baller-Gerold syndrome
• c.355-1G>A Single submitter Baller-Gerold syndrome
• c.355-1G>T Single submitter Baller-Gerold syndrome
• p.Arg1099fs Single submitter Rothmund-Thomson syndrome
• p.Arg1158fs Single submitter hereditary neoplastic syndrome
• p.Arg365fs Single submitter
• p.Arg623fs Single submitter RECQL4-related disorder
• p.Asp779fs Single submitter Rothmund-Thomson syndrome
• p.Cys403Ser Single submitter ovarian cancer ⚠
• p.Gln1011Ter Single submitter
• p.Glu334Ter Single submitter Baller-Gerold syndrome
• p.Gly231Ser Single submitter Baller-Gerold syndrome ⚠
• p.Leu533fs Single submitter RECQL4-related disorder
• p.Leu638Pro Single submitter Baller-Gerold syndrome
• p.Phe1155Leu Single submitter ovarian cancer ⚠
• p.Ser862Ter Single submitter RECQL4-related disorder
• p.Thr690del Single submitter Susceptibility to severe COVID-19
• p.Tyr1187Ter Single submitter rapadilino syndrome
• p.Arg1072Ter No assertion criteria rapadilino syndrome
• p.Arg1131fs No assertion criteria
• p.Arg629fs No assertion criteria rapadilino syndrome
• p.Thr1200fs No assertion criteria rapadilino syndrome
• p.Thr145fs No assertion criteria RECQL4-related disorder

Conflicting classifications of pathogenicity 203

• c.1131+11G>A Single submitter Baller-Gerold syndrome
• c.1131+8A>G Single submitter Baller-Gerold syndrome
• c.1132-20C>T Single submitter Baller-Gerold syndrome
• c.1132-8C>A Single submitter Baller-Gerold syndrome
• c.1259-12T>C Single submitter hereditary neoplastic syndrome
• c.1390+6C>A Single submitter Baller-Gerold syndrome
• c.1391-4G>T Single submitter Baller-Gerold syndrome
• c.1483+27_1483+37del Single submitter Rothmund-Thomson syndrome type 2
• c.1484-11G>A Single submitter hereditary neoplastic syndrome
• c.1484-3C>T Single submitter Inborn genetic diseases
• c.1621-9C>T Single submitter hereditary neoplastic syndrome
• c.1704+17C>T Single submitter Baller-Gerold syndrome
• c.1704+8C>T Single submitter Baller-Gerold syndrome
• c.1705-6C>T Single submitter Inborn genetic diseases
• c.2059-12G>C Single submitter hereditary neoplastic syndrome
• c.213+6del Single submitter hereditary neoplastic syndrome
• c.2200+4C>T Single submitter Baller-Gerold syndrome
• c.2201-3A>G Single submitter Baller-Gerold syndrome
• c.2463+18C>A Single submitter
• c.2463+3T>C Single submitter Rothmund-Thomson syndrome type 2
• c.2464-4G>A Single submitter hereditary neoplastic syndrome
• c.2756-6C>T Single submitter hereditary neoplastic syndrome
• c.3393+2T>G Single submitter RECQL4-related disorder
• c.3394-4A>G Single submitter Rothmund-Thomson syndrome type 2
• c.3495_3502+23del Single submitter Baller-Gerold syndrome
• c.3503-9C>T Single submitter Baller-Gerold syndrome
• c.355-8C>T Single submitter Baller-Gerold syndrome
• p.Ala1122Thr Single submitter Baller-Gerold syndrome ⚠
• p.Ala1199Thr Single submitter Inborn genetic diseases
• p.Ala133Thr Single submitter Inborn genetic diseases ⚠
• p.Ala133Val Single submitter Baller-Gerold syndrome ⚠
• p.Ala137Thr Single submitter Baller-Gerold syndrome ⚠
• p.Ala204Val Single submitter Inborn genetic diseases ⚠
• p.Ala239Val Single submitter Inborn genetic diseases ⚠
• p.Ala273Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala282Gly Single submitter Inborn genetic diseases ⚠
• p.Ala289Thr Single submitter Baller-Gerold syndrome ⚠
• p.Ala330Thr Single submitter ovarian cancer ⚠
• p.Ala330Val Single submitter Inborn genetic diseases ⚠
• p.Ala378Val Single submitter Inborn genetic diseases ⚠
• p.Ala413Arg Single submitter Rothmund-Thomson syndrome type 2
• p.Ala414Ser Single submitter Baller-Gerold syndrome ⚠
• p.Ala488Val Single submitter Inborn genetic diseases ⚠
• p.Ala550Gly Single submitter Baller-Gerold syndrome ⚠
• p.Ala594Thr Single submitter Baller-Gerold syndrome ⚠
• p.Ala607Val Single submitter Inborn genetic diseases ⚠
• p.Ala67Val Single submitter Baller-Gerold syndrome ⚠
• p.Ala69Val Single submitter Baller-Gerold syndrome ⚠
• p.Ala72Val Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Ala812= Single submitter Inborn genetic diseases
• p.Ala852_Cys855dup Single submitter Baller-Gerold syndrome
• p.Ala939Val Single submitter Baller-Gerold syndrome ⚠
• p.Ala960= Single submitter Baller-Gerold syndrome
• p.Arg1004Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1021Gln Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1058Gly Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1058His Single submitter Baller-Gerold syndrome ⚠
• p.Arg1062Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1106His Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1131Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1181Ter Single submitter rapadilino syndrome
• p.Arg1208Cys Single submitter Baller-Gerold syndrome ⚠
• p.Arg171Gln Single submitter Inborn genetic diseases ⚠
• p.Arg209Lys Single submitter ovarian cancer ⚠
• p.Arg22His Single submitter Inborn genetic diseases ⚠
• p.Arg355Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg372Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Arg384Gln Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg482Cys Single submitter Inborn genetic diseases ⚠
• p.Arg521Gln Single submitter Inborn genetic diseases ⚠
• p.Arg521Trp Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg559Lys Single submitter Inborn genetic diseases ⚠
• p.Arg562Trp Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg623His Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Arg631His Single submitter Inborn genetic diseases ⚠
• p.Arg682= Single submitter Baller-Gerold syndrome
• p.Arg696Ser Single submitter Baller-Gerold syndrome ⚠
• p.Arg721Gln Single submitter Inborn genetic diseases ⚠
• p.Arg754Trp Single submitter Baller-Gerold syndrome ⚠
• p.Arg755Gln Single submitter Baller-Gerold syndrome ⚠
• p.Arg758Gln Single submitter Inborn genetic diseases ⚠
• p.Arg76His Single submitter Inborn genetic diseases ⚠
• p.Arg848Cys Single submitter Baller-Gerold syndrome ⚠
• p.Arg848His Single submitter RECQL4-related disorder ⚠
• p.Arg895Lys Single submitter Baller-Gerold syndrome ⚠
• p.Arg902Trp Single submitter RECQL4-related disorder ⚠
• p.Arg98Pro Single submitter Baller-Gerold syndrome ⚠
• p.Asn357= Single submitter Baller-Gerold syndrome
• p.Asn699Thr Single submitter Inborn genetic diseases ⚠
• p.Asp1102Gly Single submitter rapadilino syndrome ⚠
• p.Asp211Gly Single submitter Baller-Gerold syndrome ⚠
• p.Asp211His Single submitter Inborn genetic diseases ⚠
• p.Asp835Asn Single submitter Baller-Gerold syndrome ⚠
• p.Gln1175Ter Single submitter Baller-Gerold syndrome
• p.Gln513Arg Single submitter Inborn genetic diseases ⚠
• p.Gln698Arg Single submitter Inborn genetic diseases ⚠
• p.Gln764Arg Single submitter Inborn genetic diseases ⚠
• p.Glu1153Gln Single submitter Baller-Gerold syndrome ⚠
• p.Glu158Val Single submitter Inborn genetic diseases ⚠
• p.Glu216Gly Single submitter Inborn genetic diseases ⚠
• p.Glu216Lys Single submitter Inborn genetic diseases ⚠
• p.Glu260Lys Single submitter Inborn genetic diseases ⚠
• p.Glu407Lys Single submitter Inborn genetic diseases ⚠
• p.Glu796= Single submitter Baller-Gerold syndrome
• p.Glu823Lys Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Glu921Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1086Arg Single submitter ovarian cancer ⚠
• p.Gly1105Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1113Ala Single submitter Inborn genetic diseases ⚠
• p.Gly1118Asp Single submitter Baller-Gerold syndrome ⚠
• p.Gly131Arg Single submitter Baller-Gerold syndrome ⚠
• p.Gly146Arg Single submitter Baller-Gerold syndrome ⚠
• p.Gly236Asp Single submitter Inborn genetic diseases ⚠
• p.Gly387Arg Single submitter rapadilino syndrome ⚠
• p.Gly387Val Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Gly495= Single submitter Inborn genetic diseases
• p.Gly586= Single submitter Baller-Gerold syndrome
• p.Gly694Ser Single submitter Baller-Gerold syndrome ⚠
• p.Gly809Glu Single submitter Inborn genetic diseases
• p.Gly866= Single submitter Baller-Gerold syndrome
• p.His362Arg Single submitter Inborn genetic diseases ⚠
• p.His665Arg Single submitter Inborn genetic diseases ⚠
• p.His933= Single submitter Rothmund-Thomson syndrome type 2
• p.His944Tyr Single submitter ovarian cancer ⚠
• p.Ile1167= Single submitter Baller-Gerold syndrome
• p.Ile496Met Single submitter Inborn genetic diseases ⚠
• p.Ile569Val Single submitter Inborn genetic diseases ⚠
• p.Ile703Val Single submitter Baller-Gerold syndrome ⚠
• p.Ile705Val Single submitter Inborn genetic diseases ⚠
• p.Leu113Met Single submitter Baller-Gerold syndrome ⚠
• p.Leu179= Single submitter hereditary neoplastic syndrome
• p.Leu228Phe Single submitter Baller-Gerold syndrome ⚠
• p.Leu322Phe Single submitter Baller-Gerold syndrome ⚠
• p.Leu345Pro Single submitter Inborn genetic diseases ⚠
• p.Leu373Phe Single submitter Baller-Gerold syndrome ⚠
• p.Leu456Pro Single submitter Inborn genetic diseases ⚠
• p.Leu518Pro Single submitter Baller-Gerold syndrome ⚠
• p.Leu700Pro Single submitter Inborn genetic diseases
• p.Leu825Val Single submitter Inborn genetic diseases ⚠
• p.Leu927Arg Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Leu992= Single submitter Baller-Gerold syndrome
• p.Lys1048Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys154Glu Single submitter Inborn genetic diseases ⚠
• p.Lys549Gln Single submitter RECQL4-related disorder ⚠
• p.Lys626Arg Single submitter Inborn genetic diseases ⚠
• p.Met915Val Single submitter Baller-Gerold syndrome ⚠
• p.Phe1082= Single submitter Baller-Gerold syndrome
• p.Phe409Leu Single submitter Baller-Gerold syndrome
• p.Phe637Ser Single submitter RECQL4-related disorder ⚠
• p.Phe839= Single submitter Baller-Gerold syndrome
• p.Pro103Leu Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Pro1116Leu Single submitter Monogenic short statue ⚠
• p.Pro129Leu Single submitter Baller-Gerold syndrome ⚠
• p.Pro129Ser Single submitter Rothmund-Thomson syndrome ⚠
• p.Pro159Leu Single submitter Inborn genetic diseases ⚠
• p.Pro163Ser Single submitter Baller-Gerold syndrome ⚠
• p.Pro188Leu Single submitter Baller-Gerold syndrome ⚠
• p.Pro205= Single submitter Inborn genetic diseases
• p.Pro222Ser Single submitter Inborn genetic diseases ⚠
• p.Pro285Leu Single submitter Inborn genetic diseases ⚠
• p.Pro343Leu Single submitter Inborn genetic diseases ⚠
• p.Pro432Leu Single submitter Inborn genetic diseases ⚠
• p.Pro466Leu Single submitter Baller-Gerold syndrome
• p.Pro524Ser Single submitter rapadilino syndrome ⚠
• p.Pro591Ser Single submitter Inborn genetic diseases ⚠
• p.Pro662Leu Single submitter Baller-Gerold syndrome ⚠
• p.Pro792fs Single submitter Baller-Gerold syndrome
• p.Pro861Leu Single submitter Inborn genetic diseases ⚠
• p.Pro878Ser Single submitter Baller-Gerold syndrome ⚠
• p.Pro94Ser Single submitter Baller-Gerold syndrome ⚠
• p.Ser1148Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1191= Single submitter hereditary neoplastic syndrome
• p.Ser256Asn Single submitter Baller-Gerold syndrome ⚠
• p.Ser323= Single submitter hereditary neoplastic syndrome
• p.Ser371Gly Single submitter Inborn genetic diseases ⚠
• p.Ser445Gly Single submitter Baller-Gerold syndrome ⚠
• p.Ser523Thr Single submitter Inborn genetic diseases ⚠
• p.Ser64Leu Single submitter Inborn genetic diseases ⚠
• p.Ser862Leu Single submitter Baller-Gerold syndrome ⚠
• p.Thr1044Ala Single submitter Baller-Gerold syndrome ⚠
• p.Thr1073Ile Single submitter Baller-Gerold syndrome ⚠
• p.Thr145Ala Single submitter Inborn genetic diseases ⚠
• p.Thr399Ile Single submitter Baller-Gerold syndrome ⚠
• p.Thr449Ala Single submitter Inborn genetic diseases ⚠
• p.Thr449Pro Single submitter rapadilino syndrome ⚠
• p.Thr690Met Single submitter Baller-Gerold syndrome ⚠
• p.Thr771Met Single submitter Baller-Gerold syndrome
• p.Tyr706= Single submitter Inborn genetic diseases
• p.Val1028= Single submitter Rothmund-Thomson syndrome type 2
• p.Val1139Ile Single submitter Inborn genetic diseases ⚠
• p.Val1176= Single submitter Rothmund-Thomson syndrome
• p.Val292Ala Single submitter Inborn genetic diseases ⚠
• p.Val354Ile Single submitter ovarian cancer ⚠
• p.Val428Ala Single submitter Inborn genetic diseases ⚠
• p.Val450Met Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Val530Ile Single submitter Baller-Gerold syndrome ⚠
• p.Val624= Single submitter RECQL4-related disorder
• p.Val652Met Single submitter Rothmund-Thomson syndrome type 2 ⚠
• p.Val670Ile Single submitter Inborn genetic diseases ⚠
• p.Val767= Single submitter Baller-Gerold syndrome
• p.Val846= Single submitter Rothmund-Thomson syndrome type 2
• p.Val849Met Single submitter ovarian cancer ⚠
• p.Val985Met Single submitter Rothmund-Thomson syndrome type 2 ⚠

Benign 37

• c.1258+6A>T Multiple submitters rapadilino syndrome
• c.1483+24G>C Multiple submitters
• c.1621-15C>T Multiple submitters Baller-Gerold syndrome
• c.2058+107C>T Multiple submitters
• c.2058+94T>A Multiple submitters
• c.2058+94T>C Multiple submitters
• c.2059-38C>A Multiple submitters
• c.213+82G>T Multiple submitters
• c.3236+13C>T Multiple submitters rapadilino syndrome
• c.3236+37C>T Multiple submitters
• c.3393+8C>T Multiple submitters Rothmund-Thomson syndrome type 2
• c.3502+24G>A Multiple submitters rapadilino syndrome
• p.Arg1005Gln Multiple submitters Rothmund-Thomson syndrome type 2
• p.Arg522Cys Multiple submitters hereditary neoplastic syndrome
• p.Leu1043= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Pro591Leu Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Pro793Ser Multiple submitters Baller-Gerold syndrome
• p.Ser246= Multiple submitters Baller-Gerold syndrome
• p.Ser542Phe Multiple submitters Rothmund-Thomson syndrome type 2
• p.Ser92Phe Multiple submitters
• p.Ser92Pro Multiple submitters Rothmund-Thomson syndrome type 2
• p.Val1160= Multiple submitters Baller-Gerold syndrome
• c.1132-3del Single submitter Baller-Gerold syndrome
• c.1132-8dup Single submitter Baller-Gerold syndrome
• c.1484-7del Single submitter Baller-Gerold syndrome
• c.2059-80dup Single submitter
• c.2463+18_2463+19del Single submitter
• c.2463+7del Single submitter Baller-Gerold syndrome
• c.2464-17T>C Single submitter Baller-Gerold syndrome
• c.2756-3dup Single submitter Baller-Gerold syndrome
• c.3055+19del Single submitter Baller-Gerold syndrome
• c.3393+8_3393+9inv Single submitter Baller-Gerold syndrome
• p.Arg766fs Single submitter Rothmund-Thomson syndrome type 2
• p.Glu1095Gly Single submitter ovarian cancer
• p.Pro793Leu Single submitter
• p.Ser92= Single submitter Baller-Gerold syndrome
• p.Ser92Leu Single submitter Baller-Gerold syndrome

Benign/Likely benign 60

• c.1131+9G>A Multiple submitters Rothmund-Thomson syndrome type 2
• c.1258+18G>A Multiple submitters Rothmund-Thomson syndrome type 2
• c.1390+3G>A Multiple submitters hereditary neoplastic syndrome
• c.1483+7G>A Multiple submitters rapadilino syndrome
• c.1620+16C>T Multiple submitters Baller-Gerold syndrome
• c.1621-8A>G Multiple submitters Rothmund-Thomson syndrome type 2
• c.1704+9C>T Multiple submitters Rothmund-Thomson syndrome type 2
• c.1879-15C>A Multiple submitters Rothmund-Thomson syndrome type 2
• c.2059-8_2059-6del Multiple submitters hereditary neoplastic syndrome
• c.2463+16C>A Multiple submitters
• c.2463+6C>T Multiple submitters hereditary neoplastic syndrome
• c.2464-16G>A Multiple submitters Baller-Gerold syndrome
• c.2755+16dup Multiple submitters Baller-Gerold syndrome
• c.2756-8G>T Multiple submitters Rothmund-Thomson syndrome type 2
• c.3393+9A>G Multiple submitters Baller-Gerold syndrome
• c.3394-11T>C Multiple submitters Baller-Gerold syndrome
• c.3503-20G>A Multiple submitters Baller-Gerold syndrome
• c.3503-20GT[3] Multiple submitters Baller-Gerold syndrome
• p.853CT[2] Multiple submitters Rothmund-Thomson syndrome type 2
• p.853CT[4] Multiple submitters rapadilino syndrome
• p.Ala1045Thr Multiple submitters Rothmund-Thomson syndrome type 2
• p.Ala516= Multiple submitters Inborn genetic diseases
• p.Ala653= Multiple submitters Inborn genetic diseases
• p.Ala958= Multiple submitters Inborn genetic diseases
• p.Arg522His Multiple submitters Rothmund-Thomson syndrome type 2
• p.Asp211= Multiple submitters Inborn genetic diseases
• p.Asp297= Multiple submitters hereditary neoplastic syndrome
• p.Cys857= Multiple submitters rapadilino syndrome
• p.Gln1145His Multiple submitters hereditary neoplastic syndrome
• p.Gln181= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gln54Arg Multiple submitters Rothmund-Thomson syndrome type 2
• p.Glu164= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Glu301Lys Multiple submitters Rothmund-Thomson syndrome type 2
• p.Glu711Lys Multiple submitters Baller-Gerold syndrome
• p.Glu71Gly Multiple submitters Baller-Gerold syndrome
• p.Gly100= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gly1105Ser Multiple submitters Baller-Gerold syndrome
• p.Gly189Ser Multiple submitters Inborn genetic diseases
• p.Gly633= Multiple submitters Inborn genetic diseases
• p.His1014= Multiple submitters rapadilino syndrome
• p.His1165= Multiple submitters hereditary neoplastic syndrome
• p.Leu1188Pro Multiple submitters hereditary neoplastic syndrome
• p.Leu212= Multiple submitters Inborn genetic diseases
• p.Leu526Phe Multiple submitters Rothmund-Thomson syndrome type 2
• p.Leu622= Multiple submitters rapadilino syndrome
• p.Leu908= Multiple submitters Baller-Gerold syndrome
• p.Pro252Leu Multiple submitters Rothmund-Thomson syndrome type 2
• p.Pro441Ser Multiple submitters ovarian cancer
• p.Pro466= Multiple submitters Inborn genetic diseases
• p.Pro820= Multiple submitters Inborn genetic diseases
• p.Pro879His Multiple submitters Rothmund-Thomson syndrome type 2
• p.Ser677= Multiple submitters Inborn genetic diseases
• p.Thr465= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Tyr1177= Multiple submitters Baller-Gerold syndrome
• p.Val1003= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Val1020Met Multiple submitters Rothmund-Thomson syndrome type 2
• p.Val148= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Val155= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Val364Met Multiple submitters rapadilino syndrome
• p.Val799Met Multiple submitters Rothmund-Thomson syndrome type 2 ⚠

Likely benign 1384

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

• c.1131+12A>G Multiple submitters Baller-Gerold syndrome
• c.1131+14G>A Multiple submitters Baller-Gerold syndrome
• c.1131+16G>T Multiple submitters Baller-Gerold syndrome
• c.1131+9G>C Multiple submitters Baller-Gerold syndrome
• c.1132-23C>G Multiple submitters
• c.1258+104C>T Multiple submitters
• c.1258+91G>T Multiple submitters
• c.1390+13C>T Multiple submitters Baller-Gerold syndrome
• c.1391-12_1391-11del Multiple submitters Baller-Gerold syndrome
• c.1483+11C>T Multiple submitters Baller-Gerold syndrome
• c.1484-12C>T Multiple submitters hereditary neoplastic syndrome
• c.1620+13G>A Multiple submitters Baller-Gerold syndrome
• c.1620+33A>T Multiple submitters
• c.1620+82C>T Multiple submitters
• c.1704+16G>A Multiple submitters Baller-Gerold syndrome
• c.1705-16A>C Multiple submitters Baller-Gerold syndrome
• c.1878+19G>A Multiple submitters Baller-Gerold syndrome
• c.1879-13G>C Multiple submitters Baller-Gerold syndrome
• c.1879-14C>T Multiple submitters Baller-Gerold syndrome
• c.1879-20C>T Multiple submitters Baller-Gerold syndrome
• c.2058+47T>C Multiple submitters
• c.2058+98A>T Multiple submitters
• c.2059-16A>G Multiple submitters
• c.2059-26_2059-20del Multiple submitters
• c.2059-6C>T Multiple submitters Baller-Gerold syndrome
• c.213+10C>A Multiple submitters Baller-Gerold syndrome
• c.213+17G>A Multiple submitters Baller-Gerold syndrome
• c.214-14G>C Multiple submitters Baller-Gerold syndrome
• c.214-16C>T Multiple submitters Baller-Gerold syndrome
• c.2201-8C>T Multiple submitters hereditary neoplastic syndrome
• c.2463+10C>G Multiple submitters Baller-Gerold syndrome
• c.2463+7A>C Multiple submitters Baller-Gerold syndrome
• c.2464-6C>G Multiple submitters Baller-Gerold syndrome
• c.2464-8C>T Multiple submitters Baller-Gerold syndrome
• c.2756-12C>A Multiple submitters Baller-Gerold syndrome
• c.2756-15C>T Multiple submitters Baller-Gerold syndrome
• c.2756-17C>G Multiple submitters Baller-Gerold syndrome
• c.2885+15C>T Multiple submitters Baller-Gerold syndrome
• c.2885+19G>A Multiple submitters Baller-Gerold syndrome
• c.2885+9G>A Multiple submitters Baller-Gerold syndrome
• c.2886-18C>T Multiple submitters Baller-Gerold syndrome
• c.2886-20C>G Multiple submitters Baller-Gerold syndrome
• c.3055+6C>T Multiple submitters Baller-Gerold syndrome
• c.3236+16G>A Multiple submitters Baller-Gerold syndrome
• c.3236+9G>A Multiple submitters Baller-Gerold syndrome
• c.3237-11C>T Multiple submitters Baller-Gerold syndrome
• c.3394-39C>T Multiple submitters
• c.3502+10G>A Multiple submitters hereditary neoplastic syndrome
• c.3503-4G>A Multiple submitters Baller-Gerold syndrome
• c.355-18C>A Multiple submitters Baller-Gerold syndrome
• c.355-24G>C Multiple submitters
• c.355-37C>T Multiple submitters
• p.Ala1001= Multiple submitters Inborn genetic diseases
• p.Ala1081= Multiple submitters Inborn genetic diseases
• p.Ala111= Multiple submitters Baller-Gerold syndrome
• p.Ala1194= Multiple submitters Inborn genetic diseases
• p.Ala1199= Multiple submitters Baller-Gerold syndrome
• p.Ala122= Multiple submitters Inborn genetic diseases
• p.Ala133= Multiple submitters Inborn genetic diseases
• p.Ala204= Multiple submitters Inborn genetic diseases
• p.Ala207= Multiple submitters Inborn genetic diseases
• p.Ala241= Multiple submitters Inborn genetic diseases
• p.Ala273= Multiple submitters Inborn genetic diseases
• p.Ala282= Multiple submitters Baller-Gerold syndrome
• p.Ala305= Multiple submitters Inborn genetic diseases
• p.Ala328= Multiple submitters Inborn genetic diseases
• p.Ala333= Multiple submitters Inborn genetic diseases
• p.Ala346= Multiple submitters Baller-Gerold syndrome
• p.Ala395= Multiple submitters Baller-Gerold syndrome
• p.Ala413Gly Multiple submitters hereditary neoplastic syndrome
• p.Ala413Thr Multiple submitters Inborn genetic diseases
• p.Ala427= Multiple submitters Inborn genetic diseases
• p.Ala472= Multiple submitters Baller-Gerold syndrome
• p.Ala480= Multiple submitters Inborn genetic diseases
• p.Ala488= Multiple submitters Baller-Gerold syndrome
• p.Ala550= Multiple submitters Inborn genetic diseases
• p.Ala551= Multiple submitters Baller-Gerold syndrome
• p.Ala572= Multiple submitters Baller-Gerold syndrome
• p.Ala583= Multiple submitters Baller-Gerold syndrome
• p.Ala587= Multiple submitters Baller-Gerold syndrome
• p.Ala593= Multiple submitters Inborn genetic diseases
• p.Ala600= Multiple submitters Inborn genetic diseases
• p.Ala602= Multiple submitters Inborn genetic diseases
• p.Ala644= Multiple submitters Inborn genetic diseases
• p.Ala668= Multiple submitters Inborn genetic diseases
• p.Ala67= Multiple submitters Baller-Gerold syndrome
• p.Ala68= Multiple submitters Baller-Gerold syndrome
• p.Ala687= Multiple submitters Inborn genetic diseases
• p.Ala69= Multiple submitters Inborn genetic diseases
• p.Ala717= Multiple submitters Inborn genetic diseases
• p.Ala718= Multiple submitters Inborn genetic diseases
• p.Ala72= Multiple submitters Baller-Gerold syndrome
• p.Ala726= Multiple submitters Inborn genetic diseases
• p.Ala736= Multiple submitters Inborn genetic diseases
• p.Ala746= Multiple submitters Baller-Gerold syndrome
• p.Ala773= Multiple submitters Baller-Gerold syndrome
• p.Ala801= Multiple submitters Baller-Gerold syndrome
• p.Ala805= Multiple submitters hereditary neoplastic syndrome
• p.Ala834= Multiple submitters Baller-Gerold syndrome
• p.Ala85= Multiple submitters Inborn genetic diseases
• p.Ala890= Multiple submitters Inborn genetic diseases
• p.Ala954= Multiple submitters Inborn genetic diseases
• p.Arg1004Trp Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1017= Multiple submitters Inborn genetic diseases
• p.Arg1021= Multiple submitters Baller-Gerold syndrome
• p.Arg1062= Multiple submitters Inborn genetic diseases
• p.Arg108= Multiple submitters Inborn genetic diseases
• p.Arg1150= Multiple submitters Inborn genetic diseases
• p.Arg125= Multiple submitters Baller-Gerold syndrome
• p.Arg168= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Arg20= Multiple submitters Inborn genetic diseases
• p.Arg209= Multiple submitters Inborn genetic diseases
• p.Arg262= Multiple submitters Inborn genetic diseases
• p.Arg263= Multiple submitters Inborn genetic diseases
• p.Arg350= Multiple submitters Inborn genetic diseases
• p.Arg365= Multiple submitters Inborn genetic diseases
• p.Arg367= Multiple submitters Baller-Gerold syndrome
• p.Arg372= Multiple submitters Inborn genetic diseases
• p.Arg375= Multiple submitters Baller-Gerold syndrome
• p.Arg482= Multiple submitters Baller-Gerold syndrome
• p.Arg487= Multiple submitters Inborn genetic diseases
• p.Arg521= Multiple submitters Inborn genetic diseases
• p.Arg562= Multiple submitters Inborn genetic diseases
• p.Arg623= Multiple submitters Inborn genetic diseases
• p.Arg646= Multiple submitters Inborn genetic diseases
• p.Arg647= Multiple submitters Inborn genetic diseases
• p.Arg721= Multiple submitters Inborn genetic diseases
• p.Arg780= Multiple submitters Inborn genetic diseases
• p.Arg784= Multiple submitters Inborn genetic diseases
• p.Arg84= Multiple submitters Inborn genetic diseases
• p.Arg844= Multiple submitters Inborn genetic diseases
• p.Arg902= Multiple submitters Baller-Gerold syndrome
• p.Arg96= Multiple submitters Inborn genetic diseases
• p.Asn265= Multiple submitters Inborn genetic diseases
• p.Asn316= Multiple submitters Inborn genetic diseases
• p.Asn406= Multiple submitters Baller-Gerold syndrome
• p.Asn616= Multiple submitters Baller-Gerold syndrome
• p.Asn616Ser Multiple submitters Baller-Gerold syndrome
• p.Asn673= Multiple submitters Baller-Gerold syndrome
• p.Asn699= Multiple submitters Baller-Gerold syndrome
• p.Asn708= Multiple submitters Baller-Gerold syndrome
• p.Asp1053= Multiple submitters Baller-Gerold syndrome
• p.Asp1121= Multiple submitters Baller-Gerold syndrome
• p.Asp1134= Multiple submitters Baller-Gerold syndrome
• p.Asp187= Multiple submitters Inborn genetic diseases
• p.Asp349= Multiple submitters Baller-Gerold syndrome
• p.Asp424= Multiple submitters Inborn genetic diseases
• p.Asp447= Multiple submitters Inborn genetic diseases
• p.Asp538= Multiple submitters Baller-Gerold syndrome
• p.Asp539= Multiple submitters Inborn genetic diseases
• p.Asp651= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Asp663= Multiple submitters Inborn genetic diseases
• p.Asp681= Multiple submitters Inborn genetic diseases
• p.Asp701= Multiple submitters Inborn genetic diseases
• p.Asp712= Multiple submitters Inborn genetic diseases
• p.Asp808= Multiple submitters Baller-Gerold syndrome
• p.Cys1141= Multiple submitters Baller-Gerold syndrome
• p.Cys311= Multiple submitters Baller-Gerold syndrome
• p.Cys403= Multiple submitters Inborn genetic diseases
• p.Cys511= Multiple submitters Inborn genetic diseases
• p.Cys525= Multiple submitters Baller-Gerold syndrome
• p.Cys552= Multiple submitters Inborn genetic diseases
• p.Cys749= Multiple submitters Baller-Gerold syndrome
• p.Cys77= Multiple submitters Baller-Gerold syndrome
• p.Gln1092= Multiple submitters Baller-Gerold syndrome
• p.Gln1123= Multiple submitters Baller-Gerold syndrome
• p.Gln161= Multiple submitters Inborn genetic diseases
• p.Gln166= Multiple submitters Baller-Gerold syndrome
• p.Gln218= Multiple submitters Inborn genetic diseases
• p.Gln274= Multiple submitters Inborn genetic diseases
• p.Gln304= Multiple submitters Baller-Gerold syndrome
• p.Gln306= Multiple submitters Inborn genetic diseases
• p.Gln327= Multiple submitters Inborn genetic diseases
• p.Gln360= Multiple submitters Inborn genetic diseases
• p.Gln415= Multiple submitters Inborn genetic diseases
• p.Gln461= Multiple submitters Baller-Gerold syndrome
• p.Gln561= Multiple submitters Inborn genetic diseases
• p.Gln573= Multiple submitters Baller-Gerold syndrome
• p.Gln595= Multiple submitters Baller-Gerold syndrome
• p.Gln757= Multiple submitters Inborn genetic diseases
• p.Gln957= Multiple submitters hereditary neoplastic syndrome
• p.Gln980= Multiple submitters Baller-Gerold syndrome
• p.Gln99= Multiple submitters Inborn genetic diseases
• p.Glu1063= Multiple submitters Baller-Gerold syndrome
• p.Glu1094= Multiple submitters hereditary neoplastic syndrome
• p.Glu1110= Multiple submitters Inborn genetic diseases
• p.Glu1201= Multiple submitters Inborn genetic diseases
• p.Glu215= Multiple submitters Inborn genetic diseases
• p.Glu238= Multiple submitters Baller-Gerold syndrome
• p.Glu287= Multiple submitters Inborn genetic diseases
• p.Glu295= Multiple submitters Inborn genetic diseases
• p.Glu334= Multiple submitters Inborn genetic diseases
• p.Glu422= Multiple submitters Inborn genetic diseases
• p.Glu423= Multiple submitters Baller-Gerold syndrome
• p.Glu431= Multiple submitters Baller-Gerold syndrome
• p.Glu442= Multiple submitters Baller-Gerold syndrome
• p.Glu464= Multiple submitters Baller-Gerold syndrome
• p.Glu468= Multiple submitters Inborn genetic diseases
• p.Glu474= Multiple submitters Baller-Gerold syndrome
• p.Glu486= Multiple submitters Inborn genetic diseases
• p.Glu582= Multiple submitters Baller-Gerold syndrome
• p.Glu606= Multiple submitters Inborn genetic diseases
• p.Glu711= Multiple submitters Baller-Gerold syndrome
• p.Glu714= Multiple submitters Baller-Gerold syndrome
• p.Glu742= Multiple submitters Inborn genetic diseases
• p.Glu881= Multiple submitters Baller-Gerold syndrome
• p.Gly1041= Multiple submitters Inborn genetic diseases
• p.Gly1128= Multiple submitters Inborn genetic diseases
• p.Gly124= Multiple submitters Inborn genetic diseases
• p.Gly146= Multiple submitters Baller-Gerold syndrome
• p.Gly203= Multiple submitters Inborn genetic diseases
• p.Gly213= Multiple submitters Inborn genetic diseases
• p.Gly250= Multiple submitters Baller-Gerold syndrome
• p.Gly288= Multiple submitters Rothmund-Thomson syndrome type 2
• p.Gly290= Multiple submitters Inborn genetic diseases
• p.Gly300= Multiple submitters Inborn genetic diseases
• p.Gly335= Multiple submitters Baller-Gerold syndrome
• p.Gly351= Multiple submitters Baller-Gerold syndrome
• p.Gly394= Multiple submitters Baller-Gerold syndrome
• p.Gly457= Multiple submitters Baller-Gerold syndrome
• p.Gly507= Multiple submitters Baller-Gerold syndrome
• p.Gly543= Multiple submitters Baller-Gerold syndrome
• p.Gly666= Multiple submitters Inborn genetic diseases
• p.Gly763= Multiple submitters Baller-Gerold syndrome
• p.Gly777= Multiple submitters Inborn genetic diseases
• p.Gly79= Multiple submitters Inborn genetic diseases
• p.Gly790= Multiple submitters Inborn genetic diseases
• p.Gly806= Multiple submitters Baller-Gerold syndrome
• p.Gly95= Multiple submitters Inborn genetic diseases
• p.His174Tyr Multiple submitters Baller-Gerold syndrome
• p.His320= Multiple submitters Baller-Gerold syndrome
• p.His340= Multiple submitters Baller-Gerold syndrome
• p.His348= Multiple submitters Inborn genetic diseases
• p.His411= Multiple submitters Inborn genetic diseases
• p.His575= Multiple submitters Inborn genetic diseases
• p.His635= Multiple submitters Inborn genetic diseases
• p.His655= Multiple submitters Inborn genetic diseases
• p.His665= Multiple submitters Inborn genetic diseases
• p.His675= Multiple submitters Baller-Gerold syndrome
• p.His725= Multiple submitters Inborn genetic diseases
• p.His745= Multiple submitters Inborn genetic diseases
• p.His831= Multiple submitters hereditary neoplastic syndrome
• p.His833= Multiple submitters Baller-Gerold syndrome
• p.His900= Multiple submitters hereditary neoplastic syndrome
• p.His944= Multiple submitters Baller-Gerold syndrome
• p.Ile604= Multiple submitters Inborn genetic diseases
• p.Ile703= Multiple submitters Inborn genetic diseases
• p.Ile704= Multiple submitters Inborn genetic diseases
• p.Ile705= Multiple submitters Inborn genetic diseases
• p.Ile716= Multiple submitters Baller-Gerold syndrome
• p.Leu109= Multiple submitters Baller-Gerold syndrome
• p.Leu1103= Multiple submitters Inborn genetic diseases
• p.Leu1104= Multiple submitters Baller-Gerold syndrome
• p.Leu113= Multiple submitters Inborn genetic diseases
• p.Leu1149= Multiple submitters Baller-Gerold syndrome
• p.Leu1188= Multiple submitters Inborn genetic diseases
• p.Leu1190= Multiple submitters Baller-Gerold syndrome
• p.Leu1204= Multiple submitters Baller-Gerold syndrome
• p.Leu162= Multiple submitters Inborn genetic diseases
• p.Leu172= Multiple submitters Baller-Gerold syndrome
• p.Leu172Phe Multiple submitters Baller-Gerold syndrome
• p.Leu175= Multiple submitters Inborn genetic diseases
• p.Leu186= Multiple submitters Inborn genetic diseases
• p.Leu191= Multiple submitters Inborn genetic diseases
• p.Leu339= Multiple submitters Baller-Gerold syndrome
• p.Leu356= Multiple submitters Baller-Gerold syndrome
• p.Leu369= Multiple submitters Inborn genetic diseases
• p.Leu373= Multiple submitters Baller-Gerold syndrome
• p.Leu433= Multiple submitters Baller-Gerold syndrome
• p.Leu451= Multiple submitters Baller-Gerold syndrome
• p.Leu453= Multiple submitters Inborn genetic diseases
• p.Leu473= Multiple submitters Inborn genetic diseases
• p.Leu493= Multiple submitters Inborn genetic diseases
• p.Leu500= Multiple submitters Inborn genetic diseases
• p.Leu528= Multiple submitters Inborn genetic diseases
• p.Leu533= Multiple submitters Inborn genetic diseases
• p.Leu534= Multiple submitters Inborn genetic diseases
• p.Leu544= Multiple submitters Inborn genetic diseases
• p.Leu577= Multiple submitters Baller-Gerold syndrome
• p.Leu579= Multiple submitters Baller-Gerold syndrome
• p.Leu590= Multiple submitters Baller-Gerold syndrome
• p.Leu596= Multiple submitters Inborn genetic diseases
• p.Leu65= Multiple submitters Baller-Gerold syndrome
• p.Leu656= Multiple submitters Inborn genetic diseases
• p.Leu674= Multiple submitters Inborn genetic diseases
• p.Leu688= Multiple submitters Baller-Gerold syndrome
• p.Leu689= Multiple submitters Baller-Gerold syndrome
• p.Leu692= Multiple submitters Inborn genetic diseases
• p.Leu719= Multiple submitters Inborn genetic diseases
• p.Leu720= Multiple submitters Baller-Gerold syndrome
• p.Leu765= Multiple submitters Inborn genetic diseases
• p.Leu818= Multiple submitters Inborn genetic diseases
• p.Leu82= Multiple submitters Baller-Gerold syndrome
• p.Leu923= Multiple submitters Baller-Gerold syndrome
• p.Leu935= Multiple submitters Baller-Gerold syndrome
• p.Lys110= Multiple submitters Inborn genetic diseases
• p.Lys114= Multiple submitters Inborn genetic diseases
• p.Lys136= Multiple submitters Baller-Gerold syndrome
• p.Lys332= Multiple submitters Inborn genetic diseases
• p.Lys359= Multiple submitters Baller-Gerold syndrome

Uncertain significance 2731

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

• c.1391-3C>T Multiple submitters Rothmund-Thomson syndrome type 2
• c.1705-23_1705-7dup Multiple submitters Baller-Gerold syndrome
• c.214-3C>A Multiple submitters Rothmund-Thomson syndrome type 2
• c.2200+5G>A Multiple submitters RECQL4-related disorder
• c.2463+5G>A Multiple submitters Rothmund-Thomson syndrome type 2
• c.2885+5G>A Multiple submitters hereditary neoplastic syndrome
• c.3055+5G>A Multiple submitters Rothmund-Thomson syndrome type 2
• c.3394-9T>G Multiple submitters Baller-Gerold syndrome
• c.3502+2T>A Multiple submitters Fetal anomalies with a likely genetic cause
• c.3502+5G>A Multiple submitters Baller-Gerold syndrome
• p.642AT[1] Multiple submitters Baller-Gerold syndrome
• p.Ala1001Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala1066Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala1076Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala111Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala1159Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala1174Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala1174Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala1194Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala122Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala122Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala122Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala152Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala152Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala152Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala207Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala207Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala226Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala241Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala241Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala273Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala289Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala291Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala291Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala305Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala328Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala328Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala333Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala337Asp Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala337Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala337Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala337Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala346Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala346Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala346Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala34Val Multiple submitters Inborn genetic diseases
• p.Ala368Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala414Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala420Pro Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Ala463Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala467Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala472Asp Multiple submitters Baller-Gerold syndrome
• p.Ala480Asp Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala480Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala480Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala488Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala506Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala506Pro Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala550Val Multiple submitters rapadilino syndrome ⚠
• p.Ala551Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala572Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala587Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala587Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala593Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala593Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala594Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala600Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala602Gly Multiple submitters Baller-Gerold syndrome
• p.Ala602Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala602Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala607Gly Multiple submitters Baller-Gerold syndrome
• p.Ala642Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala649Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala649Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala653Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala657Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala657Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala657Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala659Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala668Asp Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala668Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala67Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala687Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala687Thr Multiple submitters Inborn genetic diseases
• p.Ala687Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala68Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala69Asp Multiple submitters Inborn genetic diseases ⚠
• p.Ala717Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala717Val Multiple submitters Inborn genetic diseases
• p.Ala718Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala726Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala727Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala727Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala727Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala72Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala72Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala72Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala736Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala736Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala736Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala741Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala743Asp Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala743Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala743Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala743Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala746Thr Multiple submitters Baller-Gerold syndrome
• p.Ala746Val Multiple submitters Rothmund-Thomson syndrome type 2
• p.Ala759Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala773Thr Multiple submitters Baller-Gerold syndrome
• p.Ala773Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala785Thr Multiple submitters Inborn genetic diseases
• p.Ala801Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala812Thr Multiple submitters Baller-Gerold syndrome
• p.Ala841Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala841Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala85Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala85Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala867Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala882Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala903Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala912Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala912Val Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala919Thr Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Ala958Pro Multiple submitters Baller-Gerold syndrome
• p.Ala958Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Ala967Gly Multiple submitters RECQL4-related disorder ⚠
• p.Arg1005Trp Multiple submitters RECQL4-related disorder ⚠
• p.Arg1021Pro Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1022His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1038Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1038His Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1062Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1064His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1069Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1069His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1071His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg108Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg108Trp Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1096Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1096His Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1106Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg1131Ile Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1140Cys Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1140His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1144Cys Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1144Gly Multiple submitters Baller-Gerold syndrome
• p.Arg1144His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg1162Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg1181Gln Multiple submitters Rothmund-Thomson syndrome ⚠
• p.Arg1182Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg1182His Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg1185Thr Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg125Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg126Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg132Lys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg171Trp Multiple submitters RECQL4-related disorder ⚠
• p.Arg182Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg182Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg182Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg182Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg193Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg209Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg248Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg248His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg262Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg262Trp Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg263Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg318Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg318Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg318Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg318Thr Multiple submitters Inborn genetic diseases ⚠
• p.Arg344Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg344Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg344Trp Multiple submitters RECQL4-related disorder ⚠
• p.Arg347Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg347His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg347Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg347Pro Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg350Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg350Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg365Gln Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg365Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg365Trp Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg367Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg367Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg367Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg370Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg372Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg375Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg375His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg375Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg384Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg3Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg418Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg418Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg43Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg482His Multiple submitters Inborn genetic diseases ⚠
• p.Arg482Leu Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg487His Multiple submitters Inborn genetic diseases ⚠
• p.Arg491Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg559Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg559Thr Multiple submitters Inborn genetic diseases ⚠
• p.Arg562Gln Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg570Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg570Trp Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg618Gln Multiple submitters Rothmund-Thomson syndrome type 2
• p.Arg618Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg618Pro Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg618Trp Multiple submitters Rothmund-Thomson syndrome type 2
• p.Arg623Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg629Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg629Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg629Trp Multiple submitters rapadilino syndrome ⚠
• p.Arg631Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg631Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg646Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg646His Multiple submitters Inborn genetic diseases ⚠
• p.Arg646Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg647Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg647Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg647His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg647Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg682Gly Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg696Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg696His Multiple submitters Inborn genetic diseases ⚠
• p.Arg696Pro Multiple submitters Inborn genetic diseases ⚠
• p.Arg709Gly Multiple submitters Inborn genetic diseases
• p.Arg709Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg710His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg715Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg715Trp Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg721Pro Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg735Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg751Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg751Trp Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg753Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg753Trp Multiple submitters Inborn genetic diseases
• p.Arg754Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg755Trp Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg758Pro Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg766Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg766Trp Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg76Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg780Gln Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg780Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg784Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg804Trp Multiple submitters Inborn genetic diseases
• p.Arg807His Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg826Gln Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg829Cys Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg829His Multiple submitters Rothmund-Thomson syndrome ⚠
• p.Arg84Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg84Pro Multiple submitters Inborn genetic diseases
• p.Arg84Trp Multiple submitters Inborn genetic diseases ⚠
• p.Arg895Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg902Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg946Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg946His Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Arg96Gln Multiple submitters Baller-Gerold syndrome ⚠
• p.Arg98His Multiple submitters Inborn genetic diseases ⚠
• p.Arg98Leu Multiple submitters Baller-Gerold syndrome ⚠
• p.Asn112His Multiple submitters Inborn genetic diseases ⚠
• p.Asn112Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn316His Multiple submitters Inborn genetic diseases ⚠
• p.Asn352Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Asn357Ser Multiple submitters Baller-Gerold syndrome ⚠
• p.Asn406Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn699Lys Multiple submitters Inborn genetic diseases ⚠
• p.Asn708Ile Multiple submitters Baller-Gerold syndrome ⚠
• p.Asn708Lys Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp1042Tyr Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp1049Asn Multiple submitters Inborn genetic diseases
• p.Asp104Ala Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp104Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Asp1102Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp1121Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp1134Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp1142His Multiple submitters hereditary neoplastic syndrome
• p.Asp200Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp200Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp211Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp297Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp349Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp349Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Asp410Asn Multiple submitters RECQL4-related disorder ⚠
• p.Asp410His Multiple submitters Inborn genetic diseases ⚠
• p.Asp424Asn Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Asp424His Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp426Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp651Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp683Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp685Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp685Glu Multiple submitters Inborn genetic diseases ⚠
• p.Asp685Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp701Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp712Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp712Glu Multiple submitters Inborn genetic diseases ⚠
• p.Asp779Asn Multiple submitters Baller-Gerold syndrome ⚠
• p.Asp782Asn Multiple submitters Rothmund-Thomson syndrome type 2 ⚠
• p.Asp808Asn Multiple submitters Baller-Gerold syndrome ⚠