SMARCA4 — 5998 ClinVar variants

Pathogenic 189

• c.3874delG Multiple submitters hereditary neoplastic syndrome
• p.Arg1005Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1189Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg1203Cys Multiple submitters intellectual disability, autosomal dominant 16
• p.Arg192fs Multiple submitters hereditary neoplastic syndrome
• p.Arg381Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg397Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg885His Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg978Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asn519fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln1187Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln1304Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln164Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln165Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln194fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln460Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln678Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu666Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly264fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gly271fs Multiple submitters hereditary neoplastic syndrome
• p.Leu1161fs Multiple submitters hereditary neoplastic syndrome
• p.Leu1481fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Met1000fs Multiple submitters hereditary neoplastic syndrome
• p.Phe947fs Multiple submitters hereditary neoplastic syndrome
• p.Phe975fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ser122Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ser492fs Multiple submitters hereditary neoplastic syndrome
• p.Thr1425fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Val1171fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Val1556fs Multiple submitters hereditary neoplastic syndrome
• c.3168+2T>C Single submitter hereditary neoplastic syndrome
• c.3547-1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ala1186Thr Single submitter
• p.Ala290fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ala393fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ala573fs Single submitter hereditary neoplastic syndrome
• p.Ala843fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Arg549fs Single submitter hereditary neoplastic syndrome
• p.Arg704fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Arg741fs Single submitter hereditary neoplastic syndrome
• p.Arg874_Trp875insTer Single submitter rhabdoid tumor predisposition syndrome 2
• p.Asn259fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Asn291fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Asn944fs Single submitter hereditary neoplastic syndrome
• p.Asp1569_Ser1570insTer Single submitter rhabdoid tumor predisposition syndrome 2
• p.Asp395fs Single submitter hereditary neoplastic syndrome
• p.Asp427fs Single submitter hereditary neoplastic syndrome
• p.Asp558fs Single submitter hereditary neoplastic syndrome
• p.Asp632fs Single submitter hereditary neoplastic syndrome
• p.Cys1359Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1004Ter Single submitter hereditary neoplastic syndrome
• p.Gln1012fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1012Ter Single submitter
• p.Gln1071fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1104fs Single submitter hereditary neoplastic syndrome
• p.Gln115Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1166Ter Single submitter hereditary neoplastic syndrome
• p.Gln1185Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1230Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1440Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1487Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1534Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1554Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1562Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln160fs Single submitter hereditary neoplastic syndrome
• p.Gln165fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln174Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln176Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln205Ter Single submitter hereditary neoplastic syndrome
• p.Gln275Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln306fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln306Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln356Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln368Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln375Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln415Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln515Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln556Ter Single submitter hereditary neoplastic syndrome
• p.Gln570fs Single submitter hereditary neoplastic syndrome
• p.Gln59Ter Single submitter intellectual disability
• p.Gln611Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln638fs Single submitter hereditary neoplastic syndrome
• p.Gln675Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln722Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln756fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln756Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln895Ter Single submitter intellectual disability, autosomal dominant 16
• p.Gln92fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln987Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1057Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1242fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1242Lys Single submitter
• p.Glu1327fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1342fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1376fs Single submitter hereditary neoplastic syndrome
• p.Glu1385fs Single submitter hereditary neoplastic syndrome
• p.Glu1449Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1483Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1493Ter Single submitter hereditary neoplastic syndrome
• p.Glu1580Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1587Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu523Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu559Lys Single submitter intellectual disability, autosomal dominant 16
• p.Glu608fs Single submitter hereditary neoplastic syndrome
• p.Glu686Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu717Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu763Ter Single submitter
• p.Glu952fs Single submitter hereditary neoplastic syndrome
• p.Glu985Lys Single submitter
• p.Gly102fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gly1031Asp Single submitter ⚠
• p.Gly53Ter Single submitter hereditary neoplastic syndrome
• p.Gly719Asp Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gly719fs Single submitter hereditary neoplastic syndrome
• p.His890fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.His900_Tyr901insTer Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ile1250Thr Single submitter
• p.Ile352fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ile497fs Single submitter hereditary neoplastic syndrome
• p.Leu1073fs Single submitter hereditary neoplastic syndrome
• p.Leu1202fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu220fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu550fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu777fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu783Pro Single submitter hereditary neoplastic syndrome
• p.Leu908fs Single submitter hereditary neoplastic syndrome
• p.Lys1044fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys1091fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys1414fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys1509fs Single submitter
• p.Lys1527Ter Single submitter hereditary neoplastic syndrome
• p.Lys546fs Single submitter hereditary neoplastic syndrome
• p.Lys581fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys586fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys689Ter Single submitter hereditary neoplastic syndrome
• p.Lys991fs Single submitter hereditary neoplastic syndrome
• p.Met113fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Met272fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Phe927fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Phe939fs Single submitter hereditary neoplastic syndrome
• p.Pro12fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro1335fs Single submitter hereditary neoplastic syndrome
• p.Pro1456fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro1489fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro221fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro232fs Single submitter hereditary neoplastic syndrome
• p.Pro240fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro263fs Single submitter hereditary neoplastic syndrome
• p.Pro276fs Single submitter hereditary neoplastic syndrome
• p.Pro316fs Single submitter hereditary neoplastic syndrome
• p.Pro319fs Single submitter hereditary neoplastic syndrome
• p.Pro328fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro616_Val617insTer Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro653fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Pro693fs Single submitter hereditary neoplastic syndrome
• p.Ser1167Leu Single submitter
• p.Ser1382Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ser1559fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ser224fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ser391fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ser746fs Single submitter hereditary neoplastic syndrome
• p.Ser767fs Single submitter hereditary neoplastic syndrome
• p.Thr170fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Thr296fs Single submitter hereditary neoplastic syndrome
• p.Trp1178Ter Single submitter hereditary neoplastic syndrome
• p.Trp1346Ter Single submitter hereditary neoplastic syndrome
• p.Trp764Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Trp825Cys Single submitter intellectual disability, autosomal dominant 16
• p.Trp922Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Trp942Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr1076Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr1498Ter Single submitter hereditary neoplastic syndrome
• p.Tyr187Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr249Ter Single submitter hereditary neoplastic syndrome
• p.Tyr475Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr507_His508delinsTer Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr560Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr649fs Single submitter hereditary neoplastic syndrome
• p.Tyr732Asp Single submitter Coffin-Siris syndrome
• p.Val561fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Val738fs Single submitter hereditary neoplastic syndrome
• c.2617-3C>G No assertion criteria rhabdoid tumor predisposition syndrome 2
• c.4170+1G>A No assertion criteria rhabdoid tumor predisposition syndrome 2
• p.Arg1157Gly No assertion criteria intellectual disability, autosomal dominant 16
• p.Gln215Ter No assertion criteria rhabdoid tumor predisposition syndrome 2
• p.Glu386del No assertion criteria rhabdoid tumor predisposition syndrome 2
• p.Gly1080Asp No assertion criteria rhabdoid tumor predisposition syndrome 2
• p.Leu921Phe No assertion criteria intellectual disability, autosomal dominant 16
• p.Phe943Cys No assertion criteria

Pathogenic/Likely pathogenic 19

• c.2438+1G>A Multiple submitters hereditary neoplastic syndrome
• p.Arg1043Trp Multiple submitters intellectual disability, autosomal dominant 16
• p.Arg1077fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1077Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg1093Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg1203His Multiple submitters SMARCA4-related BAFopathy
• p.Arg1491Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg451Cys Multiple submitters hereditary neoplastic syndrome
• p.Arg885Cys Multiple submitters Inborn genetic diseases
• p.Arg979Gln Multiple submitters SMARCA4-related BAFopathy
• p.Arg979Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln470Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu77Ter Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gly951Arg Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Leu928fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Lys546del Multiple submitters intellectual disability, autosomal dominant 16
• p.Lys585fs Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Tyr1050Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr795Ter Multiple submitters rhabdoid tumor predisposition syndrome 2

Likely pathogenic 127

• c.1246-2_1246del Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1943+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2274+1G>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3216-1G>C Multiple submitters hereditary neoplastic syndrome
• c.3216-2A>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3546+1G>A Multiple submitters hereditary neoplastic syndrome
• c.3774+2T>A Multiple submitters hereditary neoplastic syndrome
• c.3951+2T>C Multiple submitters hereditary neoplastic syndrome
• c.3952-1G>A Multiple submitters hereditary neoplastic syndrome
• p.Arg1157Trp Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1308Trp Multiple submitters intellectual disability, autosomal dominant 16
• p.Arg549Leu Multiple submitters intellectual disability, autosomal dominant 16
• p.Pro913Leu Multiple submitters intellectual disability, autosomal dominant 16
• p.Ser813Leu Multiple submitters
• c.1101_1119-550del Single submitter rhabdoid tumor predisposition syndrome 2
• c.1119-2A>C Single submitter rhabdoid tumor predisposition syndrome 2
• c.1245+1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.1415_1419+15del Single submitter rhabdoid tumor predisposition syndrome 2
• c.1419+1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.1420-1G>T Single submitter childhood neoplasm
• c.1594-2A>G Single submitter hereditary neoplastic syndrome
• c.1594-2A>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.1702_1761+3del Single submitter hereditary neoplastic syndrome
• c.1761+2T>G Single submitter Anophthalmia-microphthalmia syndrome
• c.1812+1G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.1813-1G>C Single submitter rhabdoid tumor predisposition syndrome 2
• c.1944-1G>C Single submitter hereditary neoplastic syndrome
• c.1947_2001+3del Single submitter rhabdoid tumor predisposition syndrome 2
• c.2002-1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.2002-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.2002-625_2124-1045del Single submitter rhabdoid tumor predisposition syndrome 2
• c.2124-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.222+1G>T Single submitter hereditary neoplastic syndrome
• c.222+2_222+5del Single submitter rhabdoid tumor predisposition syndrome 2
• c.2274+1G>C Single submitter rhabdoid tumor predisposition syndrome 2
• c.2438+1G>C Single submitter hereditary neoplastic syndrome
• c.2438+1G>T Single submitter hereditary neoplastic syndrome
• c.2503_2505+6del Single submitter rhabdoid tumor predisposition syndrome 2
• c.2506-1G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.2506-2A>G Single submitter intellectual disability, autosomal dominant 16
• c.2506-5_2512del Single submitter hereditary neoplastic syndrome
• c.2616+1G>A Single submitter hereditary neoplastic syndrome
• c.2617-1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.2859+1G>C Single submitter hereditary neoplastic syndrome
• c.2859+1G>T Single submitter hereditary neoplastic syndrome
• c.2859+2T>G Single submitter hereditary neoplastic syndrome
• c.2860-1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.2860-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.2974-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.3081+1G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.3168+1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.3215+1dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.3215+1G>A Single submitter hereditary neoplastic syndrome
• c.3216-1G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.3546+2T>C Single submitter rhabdoid tumor predisposition syndrome 2
• c.355+1G>A Single submitter hereditary neoplastic syndrome
• c.355+2T>G Single submitter hereditary neoplastic syndrome
• c.356-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.3774+2T>C Single submitter rhabdoid tumor predisposition syndrome 2
• c.3774+2T>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.3951+1G>A Single submitter
• c.3952-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.4424+2T>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.4533+1G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.4769-2A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.761-5T>G Single submitter hereditary neoplastic syndrome
• c.860-1G>A Single submitter hereditary neoplastic syndrome
• c.87_222+48del Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ala39fs Single submitter hereditary neoplastic syndrome
• p.Arg1243Gln Single submitter
• p.Arg1369_Ser1382delinsPro Single submitter Coffin-Siris syndrome
• p.Arg1429fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Arg842Gln Single submitter intellectual disability, autosomal dominant 16
• p.Arg967Pro Single submitter
• p.Arg978Gly Single submitter
• p.Asn1223Ser Single submitter
• p.Asn898fs Single submitter SMARCA4-related disorder
• p.Asn916Ser Single submitter intellectual disability, autosomal dominant 16
• p.Asn944Thr Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Asp1127Gly Single submitter
• p.Asp1568fs Single submitter
• p.Cys891Tyr Single submitter
• p.Cys936Ser Single submitter ⚠
• p.Gln1606Ter Single submitter hereditary neoplastic syndrome
• p.Gln179Ter Single submitter neuroblastoma
• p.Gln331fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln575Ter Single submitter SMARCA4-related disorder
• p.Gln788Pro Single submitter
• p.Gln987Pro Single submitter
• p.Glu1023Gly Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Glu1056Lys Single submitter
• p.Glu1148_Phe1150delinsGlyLeu Single submitter
• p.Glu488Lys Single submitter intellectual disability, autosomal dominant 16
• p.Glu533Lys Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Glu821Asp Single submitter
• p.Gly1146_Ser1147insTer Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gly1159Ala Single submitter intellectual disability, autosomal dominant 16
• p.Gly784Trp Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gly951Ala Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ile1151Asn Single submitter intellectual disability, autosomal dominant 16
• p.Ile1214Thr Single submitter
• p.Ile355fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu1092Arg Single submitter SMARCA4-related BAFopathy
• p.Leu302fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu476Arg Single submitter intellectual disability, autosomal dominant 16
• p.Leu553Arg Single submitter SMARCA4-related BAFopathy
• p.Leu768Pro Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu893Arg Single submitter intellectual disability, autosomal dominant 16
• p.Lys1024Glu Single submitter ⚠
• p.Lys1407fs Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys688Ter Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys755Glu Single submitter rhabdoid tumor predisposition syndrome 2
• p.Lys785Glu Single submitter SMARCA4-related disorder
• p.Lys865Glu Single submitter
• p.Met1011Thr Single submitter SMARCA4-related disorder ⚠
• p.Ser1238Ala Single submitter intellectual disability, autosomal dominant 16
• p.Thr1032Asn Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Thr1141_Asn1143delinsIlePheTyr Single submitter rhabdoid tumor predisposition syndrome 2
• p.Thr894Met Single submitter Inborn genetic diseases ⚠
• p.Trp818Ter Single submitter intellectual disability, autosomal dominant 16
• p.Tyr732His Single submitter rhabdoid tumor predisposition syndrome 2
• p.Tyr732Phe Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Val568Leu Single submitter SMARCA4-related BAFopathy
• p.Val992Gly Single submitter intellectual disability, autosomal dominant 16
• p.Arg539Gly No assertion criteria Global developmental delay
• p.Asn1047His No assertion criteria intellectual disability, autosomal dominant 16
• p.Asn477Asp No assertion criteria Autistic behavior ⚠

Conflicting classifications of pathogenicity 461

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

• c.1118+7del Single submitter rhabdoid tumor predisposition syndrome 2
• c.1119-3C>T Single submitter intellectual disability, autosomal dominant 16
• c.1119-5C>T Single submitter hereditary neoplastic syndrome
• c.1246-4A>G Single submitter hereditary neoplastic syndrome
• c.1246-6C>T Single submitter hereditary neoplastic syndrome
• c.1419+5G>A Single submitter hereditary neoplastic syndrome
• c.1419+5G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.1420-3C>T Single submitter hereditary neoplastic syndrome
• c.1420-5T>G Single submitter hereditary neoplastic syndrome
• c.1593+14T>A Single submitter hereditary neoplastic syndrome
• c.1594-3T>C Single submitter hereditary neoplastic syndrome
• c.1762-2A>G Single submitter hereditary neoplastic syndrome ⚠
• c.1812+3G>A Single submitter hereditary neoplastic syndrome
• c.1813-4dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.1944-12C>A Single submitter hereditary neoplastic syndrome
• c.2001+5G>A Single submitter hereditary neoplastic syndrome
• c.2002-5_2002-3del Single submitter hereditary neoplastic syndrome
• c.2010_2012delGGA Single submitter hereditary neoplastic syndrome
• c.2123+7G>T Single submitter intellectual disability, autosomal dominant 16
• c.2124-5C>A Single submitter hereditary neoplastic syndrome
• c.2124-5C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.2124-6_2124-4dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.2124-9C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.222+18C>T Single submitter hereditary neoplastic syndrome
• c.223-4G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.223-5C>T Single submitter Coffin-Siris syndrome
• c.223-7C>G Single submitter Coffin-Siris syndrome
• c.2275-10G>A Single submitter Coffin-Siris syndrome
• c.2275-1G>C Single submitter hereditary neoplastic syndrome ⚠
• c.2275-3C>A Single submitter Coffin-Siris syndrome
• c.2275-3C>T Single submitter hereditary neoplastic syndrome
• c.2438+10C>T Single submitter hereditary neoplastic syndrome
• c.2438+4A>C Single submitter intellectual disability, autosomal dominant 16
• c.2439-10G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.2439-10G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.2439-12T>G Single submitter hereditary neoplastic syndrome
• c.2439-4T>C Single submitter hereditary neoplastic syndrome
• c.2505+4G>A Single submitter hereditary neoplastic syndrome
• c.2506-3C>T Single submitter hereditary neoplastic syndrome
• c.2506-4G>A Single submitter intellectual disability, autosomal dominant 16
• c.2506-5T>C Single submitter hereditary neoplastic syndrome
• c.2616+5C>T Single submitter hereditary neoplastic syndrome
• c.2616+6G>A Single submitter hereditary neoplastic syndrome
• c.2859+8T>G Single submitter intellectual disability, autosomal dominant 16
• c.2860-8G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.2974-7C>T Single submitter hereditary neoplastic syndrome
• c.3081+3_3081+4delinsCA Single submitter hereditary neoplastic syndrome
• c.3081+5G>A Single submitter intellectual disability, autosomal dominant 16
• c.3168+11C>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.3169-5T>C Single submitter hereditary neoplastic syndrome
• c.3216-3C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.3216-5T>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.3382+14A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.3383-3C>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.3383-5G>A Single submitter hereditary neoplastic syndrome
• c.3546+9G>A Single submitter intellectual disability, autosomal dominant 16
• c.3547-3C>G Single submitter hereditary neoplastic syndrome
• c.3547-3C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.3547-4C>T Single submitter hereditary neoplastic syndrome
• c.3547-5C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.355+4C>T Single submitter hereditary neoplastic syndrome
• c.355+5A>T Single submitter hereditary neoplastic syndrome
• c.356-4G>T Single submitter hereditary neoplastic syndrome
• c.356-5T>C Single submitter hereditary neoplastic syndrome
• c.3775-4A>G Single submitter intellectual disability, autosomal dominant 16
• c.3775-5C>T Single submitter hereditary neoplastic syndrome
• c.3873+6del Single submitter intellectual disability, autosomal dominant 16
• c.3874-2A>G Single submitter hereditary neoplastic syndrome ⚠
• c.3951+4A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.3952-13C>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.3952-20G>A Single submitter hereditary neoplastic syndrome
• c.3952-9G>A Single submitter hereditary neoplastic syndrome
• c.4171-1748G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.4171-1774T>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.4171-1789C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.4171-1790C>A Single submitter hereditary neoplastic syndrome
• c.4171-1807G>T Single submitter hereditary neoplastic syndrome
• c.4171-1814C>T Single submitter hereditary neoplastic syndrome
• c.4171-1821C>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.4171-1854T>C Single submitter hereditary neoplastic syndrome
• c.4171-1858T>A Single submitter Coffin-Siris syndrome
• c.4171-1861A>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.4171-1861del Single submitter rhabdoid tumor predisposition syndrome 2
• c.4171-29G>C Single submitter
• c.4171-7C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.4424+15G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.4424+5G>A Single submitter intellectual disability, autosomal dominant 16
• c.4424+6C>T Single submitter hereditary neoplastic syndrome
• c.4533+5C>A Single submitter hereditary neoplastic syndrome
• c.4533+5C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.4636-10C>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.4636-1G>A Single submitter hereditary neoplastic syndrome ⚠
• c.4636-5C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.4769-12G>C Single submitter hereditary neoplastic syndrome
• c.4769-13C>T Single submitter hereditary neoplastic syndrome
• c.4769-7C>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.4911+5G>A Single submitter hereditary neoplastic syndrome
• c.760+4A>G Single submitter hereditary neoplastic syndrome
• c.761-11C>T Single submitter hereditary neoplastic syndrome
• c.859+1G>T Single submitter hereditary neoplastic syndrome ⚠
• c.859+5G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.859+6C>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.860-19G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.860-3C>T Single submitter hereditary neoplastic syndrome
• c.860-4C>G Single submitter hereditary neoplastic syndrome
• c.860-4C>T Single submitter hereditary neoplastic syndrome
• c.*9A>T Single submitter hereditary nonpolyposis colon cancer
• p.229_230GP[12] Single submitter hereditary neoplastic syndrome
• p.229_230GP[4] Single submitter hereditary neoplastic syndrome
• p.229GP[10] Single submitter hereditary neoplastic syndrome
• p.229GP[11] Single submitter hereditary neoplastic syndrome
• p.229GP[12] Single submitter hereditary neoplastic syndrome
• p.Ala1002Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala104Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala104Val Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala1186Val Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala1245Gly Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala1272Thr Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala1279Val Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala136Val Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala1401Val Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ala1419Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1420Gly Single submitter hereditary neoplastic syndrome
• p.Ala1420Val Single submitter hereditary neoplastic syndrome
• p.Ala1468Ser Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala152Ser Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala152Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala227Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala227Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala26Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala290Val Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala293Thr Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala314Thr Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala317= Single submitter hereditary neoplastic syndrome
• p.Ala321= Single submitter hereditary neoplastic syndrome
• p.Ala322Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala340Thr Single submitter SMARCA4-related disorder ⚠
• p.Ala379Thr Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala39Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala429= Single submitter hereditary neoplastic syndrome
• p.Ala577Thr Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ala589Thr Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala589Val Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala592Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala592Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala747Thr Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala819Thr Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala819Val Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ala843Val Single submitter hereditary neoplastic syndrome
• p.Arg1200His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1244Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1325= Single submitter Coffin-Siris syndrome
• p.Arg1356Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg13Gln Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg1405Gln Single submitter hereditary neoplastic syndrome
• p.Arg1405Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1406Cys Single submitter hereditary neoplastic syndrome
• p.Arg1406His Single submitter hereditary neoplastic syndrome
• p.Arg1411Gln Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg1412Cys Single submitter hereditary neoplastic syndrome
• p.Arg1412His Single submitter hereditary neoplastic syndrome
• p.Arg1415Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1419= Single submitter hereditary neoplastic syndrome
• p.Arg1419Cys Single submitter hereditary neoplastic syndrome
• p.Arg1419His Single submitter otosclerosis 12
• p.Arg1429Cys Single submitter hereditary neoplastic syndrome
• p.Arg1429His Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg1431Cys Single submitter hereditary neoplastic syndrome
• p.Arg1431His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1502His Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg1513His Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg1515Cys Single submitter hereditary neoplastic syndrome
• p.Arg1515His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1561Gln Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg1601Gln Single submitter intellectual disability, autosomal dominant 16
• p.Arg1608Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1608Trp Single submitter hereditary neoplastic syndrome
• p.Arg1613Trp Single submitter rhabdoid tumor predisposition syndrome 2
• p.Arg1614Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1615Gln Single submitter intellectual disability, autosomal dominant 16
• p.Arg1621Gln Single submitter intellectual disability, autosomal dominant 16
• p.Arg1639His Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg310His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg351His Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg359Gln Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg359Trp Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg425Gln Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg451Leu Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg521Trp Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg549Cys Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg569Gln Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg569Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg726His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg906Cys Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Arg966Trp Single submitter SMARCA4-related disorder ⚠
• p.Arg967His Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Arg978Gln Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Asn1282= Single submitter hereditary neoplastic syndrome
• p.Asn1457Ser Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Asn1516Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1516Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1523Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1523Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1540= Single submitter hereditary neoplastic syndrome
• p.Asn248Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn435Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn477Ser Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Asn91His Single submitter hereditary neoplastic syndrome ⚠
• p.Asn926Ser Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Asp1127= Single submitter rhabdoid tumor predisposition syndrome 2
• p.Asp1299Asn Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Asp1396Tyr Single submitter rhabdoid tumor predisposition syndrome 2
• p.Asp1396Val Single submitter intellectual disability, autosomal dominant 16
• p.Asp1418Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1418Glu Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Asp1432Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1432Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1432Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1434Glu Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Asp1435Asn Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Asp1506= Single submitter hereditary neoplastic syndrome
• p.Asp1524Asn Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Asp1549= Single submitter hereditary neoplastic syndrome
• p.Asp1628Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp198Asn Single submitter hereditary neoplastic syndrome
• p.Asp362Asn Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Asp715Asn Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Asp999Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Cys1417Tyr Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln115Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln1409= Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1415Arg Single submitter rhabdoid tumor predisposition syndrome 2
• p.Gln1415His Single submitter hereditary neoplastic syndrome
• p.Gln1606Arg Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gln216His Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gln329Arg Single submitter hereditary neoplastic syndrome
• p.Gln335Lys Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Gln338Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln349Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Glu1083= Single submitter hereditary neoplastic syndrome
• p.Glu1148Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Glu1258= Single submitter rhabdoid tumor predisposition syndrome 2
• p.Glu1342= Single submitter hereditary neoplastic syndrome
• p.Glu1493Ala Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Glu1499Asp Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Glu1576= Single submitter hereditary neoplastic syndrome
• p.Glu1582Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu386= Single submitter hereditary neoplastic syndrome
• p.Glu668Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu672Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu686Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Gly101Glu Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gly101Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1120Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1146Asp Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Gly1146Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1146Ser Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gly1267Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1370= Single submitter hereditary neoplastic syndrome
• p.Gly138= Single submitter hereditary neoplastic syndrome
• p.Gly142= Single submitter hereditary neoplastic syndrome
• p.Gly1420Ala Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Gly142Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly148Arg Single submitter Coffin-Siris syndrome
• p.Gly151Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1585Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly15Ala Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gly1612Ser Single submitter SMARCA4-related disorder ⚠
• p.Gly239Ser Single submitter SMARCA4-related disorder ⚠
• p.Gly243Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Gly254= Single submitter hereditary neoplastic syndrome
• p.Gly264Ala Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Gly264Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly267= Single submitter hereditary neoplastic syndrome
• p.Gly603= Single submitter hereditary neoplastic syndrome
• p.Gly637Arg Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Gly761Asp Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Gly83Ser Single submitter hereditary neoplastic syndrome ⚠
• p.His1273Arg Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.His705= Single submitter hereditary neoplastic syndrome
• p.His73Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ile1193Val Single submitter rhabdoid tumor predisposition syndrome 2 ⚠
• p.Ile1229= Single submitter hereditary neoplastic syndrome
• p.Ile1348Val Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ile1397Ser Single submitter hereditary neoplastic syndrome
• p.Ile1397Thr Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ile1465Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile1546= Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ile1564Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ile366Met Single submitter intellectual disability, autosomal dominant 16 ⚠
• p.Ile378Val Single submitter rhabdoid tumor predisposition syndrome 2
• p.Ile599Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile620Met Single submitter hereditary neoplastic syndrome ⚠
• p.Leu1073Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Leu1108= Single submitter hereditary neoplastic syndrome
• p.Leu1408Pro Single submitter rhabdoid tumor predisposition syndrome 2
• p.Leu1458Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu1531= Single submitter hereditary neoplastic syndrome
• p.Leu1532= Single submitter hereditary neoplastic syndrome
• p.Leu1609Pro Single submitter hereditary neoplastic syndrome ⚠

Benign 79

• c.1594-289C>T Multiple submitters
• c.1594-99T>C Multiple submitters
• c.1761+29G>A Multiple submitters
• c.1762-37T>C Multiple submitters hereditary neoplastic syndrome
• c.1813-185G>A Multiple submitters
• c.1813-210A>G Multiple submitters
• c.1813-54T>C Multiple submitters
• c.1943+67G>A Multiple submitters
• c.2001+133C>T Multiple submitters
• c.2123+12C>T Multiple submitters intellectual disability, autosomal dominant 16
• c.2124-120C>T Multiple submitters
• c.223-53T>C Multiple submitters
• c.2439-33C>T Multiple submitters
• c.2506-72G>A Multiple submitters
• c.2617-321G>A Multiple submitters
• c.2617-86G>A Multiple submitters hereditary neoplastic syndrome
• c.2860-104A>G Multiple submitters
• c.3082-92A>C Multiple submitters
• c.3168+131C>T Multiple submitters
• c.3168+31C>G Multiple submitters hereditary neoplastic syndrome
• c.3169-119C>T Multiple submitters
• c.3215+113T>C Multiple submitters
• c.3547-155C>G Multiple submitters
• c.3547-279C>T Multiple submitters
• c.3547-304G>A Multiple submitters
• c.355+11G>A Multiple submitters hereditary neoplastic syndrome
• c.356-14A>G Multiple submitters intellectual disability, autosomal dominant 16
• c.4170+45G>A Multiple submitters
• c.4425-133G>A Multiple submitters
• c.4425-162C>T Multiple submitters
• c.4425-35A>G Multiple submitters hereditary neoplastic syndrome
• c.4769-25G>A Multiple submitters
• c.859+30C>T Multiple submitters hereditary neoplastic syndrome
• c.*1G>T Multiple submitters hereditary neoplastic syndrome
• p.Asp1629= Multiple submitters Coffin-Siris syndrome
• p.His508= Multiple submitters intellectual disability, autosomal dominant 16
• p.Leu796= Multiple submitters intellectual disability, autosomal dominant 16
• p.Pro305= Multiple submitters Coffin-Siris syndrome
• c.1245+262dup Single submitter
• c.1245+277dup Single submitter
• c.1419+143T>C Single submitter
• c.1594-13del Single submitter rhabdoid tumor predisposition syndrome 2
• c.1594-13dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.1813-208del Single submitter
• c.1813-209_1813-208del Single submitter
• c.1813-230C>A Single submitter
• c.1944-5del Single submitter rhabdoid tumor predisposition syndrome 2
• c.2001+279A>G Single submitter
• c.2123+13G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.222+19G>A Single submitter rhabdoid tumor predisposition syndrome 2
• c.223-239T>C Single submitter
• c.2275-17C>G Single submitter rhabdoid tumor predisposition syndrome 2
• c.2438+307C>G Single submitter
• c.2439-204C>G Single submitter
• c.2859+282A>C Single submitter
• c.2860-8del Single submitter rhabdoid tumor predisposition syndrome 2
• c.2973+19dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.2974-255G>A Single submitter
• c.2974-313T>C Single submitter
• c.3215+170del Single submitter
• c.3215+170dup Single submitter
• c.3216-168A>G Single submitter
• c.3216-234T>C Single submitter
• c.3216-293G>C Single submitter
• c.3547-330G>A Single submitter
• c.3547-3del Single submitter rhabdoid tumor predisposition syndrome 2
• c.3547-3dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.3952-119G>A Single submitter
• c.4425-136dup Single submitter
• c.4425-305A>G Single submitter
• c.4425-5330G>T Single submitter rhabdoid tumor predisposition syndrome 2
• c.4636-17del Single submitter rhabdoid tumor predisposition syndrome 2
• c.4768+16del Single submitter rhabdoid tumor predisposition syndrome 2
• c.4768+16dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.4911+16del Single submitter rhabdoid tumor predisposition syndrome 2
• c.4911+16dup Single submitter rhabdoid tumor predisposition syndrome 2
• c.4912-161G>A Single submitter
• c.*327T>C Single submitter Coffin-Siris syndrome
• c.*401G>A Single submitter Coffin-Siris syndrome

Benign/Likely benign 119

• c.1119-12C>T Multiple submitters Coffin-Siris syndrome
• c.1119-6T>C Multiple submitters hereditary neoplastic syndrome
• c.1419+4C>T Multiple submitters hereditary neoplastic syndrome
• c.1419+7T>C Multiple submitters intellectual disability, autosomal dominant 16
• c.1419+8C>T Multiple submitters Coffin-Siris syndrome
• c.1419+9C>T Multiple submitters hereditary nonpolyposis colon cancer
• c.1593+343G>A Multiple submitters
• c.1594-18dup Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1594-8T>C Multiple submitters hereditary neoplastic syndrome
• c.1944-12C>T Multiple submitters Coffin-Siris syndrome
• c.1944-19G>T Multiple submitters hereditary neoplastic syndrome
• c.1944-5dup Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2001+8T>G Multiple submitters Coffin-Siris syndrome
• c.2002-12G>A Multiple submitters hereditary nonpolyposis colon cancer
• c.2002-19T>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.222+14T>C Multiple submitters intellectual disability, autosomal dominant 16
• c.223-4G>A Multiple submitters hereditary neoplastic syndrome
• c.2506-14T>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2617-4G>A Multiple submitters hereditary neoplastic syndrome
• c.2860-14T>C Multiple submitters hereditary neoplastic syndrome
• c.2973+14G>A Multiple submitters Coffin-Siris syndrome
• c.2974-4G>A Multiple submitters intellectual disability, autosomal dominant 16
• c.3168+9G>A Multiple submitters hereditary neoplastic syndrome
• c.3547-11T>C Multiple submitters hereditary nonpolyposis colon cancer
• c.355+9C>T Multiple submitters Coffin-Siris syndrome
• c.3951+7G>A Multiple submitters hereditary neoplastic syndrome
• c.4170+16G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4170+17C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4170+5A>G Multiple submitters Coffin-Siris syndrome
• c.4170+9T>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4171-13A>G Multiple submitters Coffin-Siris syndrome
• c.4171-1737T>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4635+12G>A Multiple submitters intellectual disability, autosomal dominant 16
• c.4768+10G>A Multiple submitters hereditary neoplastic syndrome
• c.4768+15G>C Multiple submitters Coffin-Siris syndrome
• c.4768+16G>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4769-44A>G Multiple submitters hereditary neoplastic syndrome
• c.761-5T>C Multiple submitters hereditary neoplastic syndrome
• c.859+7T>A Multiple submitters hereditary nonpolyposis colon cancer
• p.229GP[6] Multiple submitters hereditary neoplastic syndrome
• p.Ala1249= Multiple submitters hereditary neoplastic syndrome
• p.Ala1448= Multiple submitters hereditary neoplastic syndrome
• p.Ala314= Multiple submitters intellectual disability, autosomal dominant 16
• p.Ala503= Multiple submitters otosclerosis 12
• p.Ala636= Multiple submitters hereditary neoplastic syndrome
• p.Ala733= Multiple submitters hereditary neoplastic syndrome
• p.Arg1429= Multiple submitters hereditary neoplastic syndrome
• p.Arg1431= Multiple submitters hereditary neoplastic syndrome
• p.Arg1443= Multiple submitters hereditary neoplastic syndrome
• p.Arg1591= Multiple submitters hereditary neoplastic syndrome
• p.Arg448= Multiple submitters hereditary neoplastic syndrome
• p.Asn1223= Multiple submitters hereditary neoplastic syndrome
• p.Asn1535= Multiple submitters hereditary neoplastic syndrome
• p.Asn519= Multiple submitters Coffin-Siris syndrome
• p.Asn803= Multiple submitters Coffin-Siris syndrome
• p.Asn854= Multiple submitters hereditary neoplastic syndrome
• p.Asp1351= Multiple submitters intellectual disability, autosomal dominant 16
• p.Asp1396Gly Multiple submitters hereditary neoplastic syndrome
• p.Asp1418= Multiple submitters hereditary neoplastic syndrome
• p.Asp1434= Multiple submitters hereditary neoplastic syndrome
• p.Asp1528= Multiple submitters otosclerosis 12
• p.Asp656= Multiple submitters intellectual disability, autosomal dominant 16
• p.Asp86= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Cys936= Multiple submitters hereditary neoplastic syndrome
• p.Gln368= Multiple submitters Coffin-Siris syndrome
• p.Glu1255= Multiple submitters hereditary neoplastic syndrome
• p.Glu1393= Multiple submitters intellectual disability, autosomal dominant 16
• p.Glu1394= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu403= Multiple submitters intellectual disability, autosomal dominant 16
• p.Gly1015= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gly1611= Multiple submitters hereditary neoplastic syndrome
• p.Gly594= Multiple submitters hereditary neoplastic syndrome
• p.His1309= Multiple submitters Coffin-Siris syndrome
• p.His380= Multiple submitters hereditary neoplastic syndrome
• p.His40= Multiple submitters otosclerosis 12
• p.Ile1193= Multiple submitters hereditary neoplastic syndrome
• p.Ile1306= Multiple submitters hereditary neoplastic syndrome
• p.Ile1486= Multiple submitters hereditary neoplastic syndrome
• p.Ile1564= Multiple submitters Coffin-Siris syndrome
• p.Ile366= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ile879= Multiple submitters intellectual disability, autosomal dominant 16
• p.Leu367= Multiple submitters Coffin-Siris syndrome
• p.Leu385= Multiple submitters hereditary neoplastic syndrome
• p.Lys1221= Multiple submitters hereditary neoplastic syndrome
• p.Lys348= Multiple submitters hereditary neoplastic syndrome
• p.Lys471= Multiple submitters Coffin-Siris syndrome
• p.Lys580= Multiple submitters Coffin-Siris syndrome
• p.Lys688= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Lys785= Multiple submitters hereditary neoplastic syndrome
• p.Phe1246= Multiple submitters hereditary neoplastic syndrome
• p.Phe412= Multiple submitters hereditary neoplastic syndrome
• p.Phe844= Multiple submitters hereditary neoplastic syndrome
• p.Phe939= Multiple submitters hereditary neoplastic syndrome
• p.Pro1297= Multiple submitters intellectual disability, autosomal dominant 16
• p.Pro1504= Multiple submitters Coffin-Siris syndrome
• p.Pro1616= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Pro1624= Multiple submitters hereditary neoplastic syndrome
• p.Pro197Ser Multiple submitters Coffin-Siris syndrome
• p.Pro244= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Pro324= Multiple submitters hereditary neoplastic syndrome
• p.Pro328= Multiple submitters hereditary neoplastic syndrome
• p.Pro339= Multiple submitters hereditary neoplastic syndrome
• p.Pro358= Multiple submitters Coffin-Siris syndrome
• p.Pro49= Multiple submitters hereditary neoplastic syndrome
• p.Pro601= Multiple submitters intellectual disability, autosomal dominant 16
• p.Pro674= Multiple submitters Coffin-Siris syndrome
• p.Pro913= Multiple submitters hereditary neoplastic syndrome
• p.Pro919= Multiple submitters Coffin-Siris syndrome
• p.Ser1022= Multiple submitters Coffin-Siris syndrome
• p.Ser1417= Multiple submitters hereditary neoplastic syndrome
• p.Ser147= Multiple submitters intellectual disability, autosomal dominant 16
• p.Ser226= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ser695= Multiple submitters Coffin-Siris syndrome
• p.Thr961= Multiple submitters hereditary neoplastic syndrome
• p.Tyr1498= Multiple submitters hereditary neoplastic syndrome
• p.Tyr249= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Tyr372His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Tyr860= Multiple submitters hereditary neoplastic syndrome
• p.Val420= Multiple submitters hereditary neoplastic syndrome

Likely benign 2270

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

• c.1118+8C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1245+18C>T Multiple submitters intellectual disability, autosomal dominant 16
• c.1245+19G>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1419+10G>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1420-12G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1420-4G>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1593+188C>G Multiple submitters
• c.1594-11T>C Multiple submitters hereditary neoplastic syndrome
• c.1762-12C>T Multiple submitters hereditary neoplastic syndrome
• c.1762-36G>A Multiple submitters
• c.1762-4C>T Multiple submitters hereditary neoplastic syndrome
• c.1813-15A>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1813-17G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1813-18C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1813-19A>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.1813-4T>A Multiple submitters hereditary neoplastic syndrome
• c.1944-16C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2002-20A>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2002-4G>A Multiple submitters hereditary neoplastic syndrome
• c.2124-11C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2124-7C>T Multiple submitters hereditary nonpolyposis colon cancer
• c.222+19G>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.222+7A>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.223-11C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.223-9C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2274+10G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2274+12_2274+13del Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2274+8A>T Multiple submitters hereditary neoplastic syndrome
• c.2274+8del Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2439-19C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2439-5A>G Multiple submitters hereditary neoplastic syndrome
• c.2439-7C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2505+14A>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2616+14G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.2616+54G>A Multiple submitters
• c.2616+58C>T Multiple submitters
• c.2617-5C>T Multiple submitters hereditary neoplastic syndrome
• c.2860-20C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3081+15C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3081+8C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3168+13C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3169-4G>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3216-20C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3382+9G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3383-12T>C Multiple submitters hereditary neoplastic syndrome
• c.3383-13C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3383-5G>T Multiple submitters intellectual disability, autosomal dominant 16
• c.3546+15G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3547-7C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.355+12C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.356-12C>T Multiple submitters hereditary neoplastic syndrome
• c.356-4G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.356-8C>T Multiple submitters hereditary neoplastic syndrome
• c.3774+20C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3874-3T>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3874-4A>G Multiple submitters hereditary neoplastic syndrome
• c.3951+6C>T Multiple submitters intellectual disability, autosomal dominant 16
• c.3951+84G>A Multiple submitters
• c.3952-11C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3952-5A>G Multiple submitters hereditary neoplastic syndrome
• c.3952-6C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.3952-7CCA[3] Multiple submitters hereditary neoplastic syndrome
• c.4170+4C>T Multiple submitters hereditary neoplastic syndrome
• c.4170+8C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4171-1736G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4171-1775G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4171-1802T>C Multiple submitters hereditary neoplastic syndrome
• c.4171-1823C>T Multiple submitters hereditary neoplastic syndrome
• c.4171-1853G>T Multiple submitters hereditary neoplastic syndrome
• c.4171-1970G>C Multiple submitters
• c.4425-18G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4533+12G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4533+19_4533+20del Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4635+11C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4636-138C>T Multiple submitters
• c.4768+9C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4769-4C>T Multiple submitters hereditary neoplastic syndrome
• c.4769-62T>A Multiple submitters
• c.4911+16C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4911+9G>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4912-10C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4912-4C>A Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4912-4C>G Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.4912-4C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.761-14C>T Multiple submitters rhabdoid tumor predisposition syndrome 2
• c.859+128T>C Multiple submitters
• c.859+20G>C Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala1002= Multiple submitters hereditary neoplastic syndrome
• p.Ala1078= Multiple submitters hereditary neoplastic syndrome
• p.Ala1158= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala1186= Multiple submitters hereditary neoplastic syndrome
• p.Ala1190= Multiple submitters hereditary neoplastic syndrome
• p.Ala1216= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala1217= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala1231= Multiple submitters hereditary neoplastic syndrome
• p.Ala1279= Multiple submitters hereditary neoplastic syndrome
• p.Ala130= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala1401= Multiple submitters hereditary neoplastic syndrome
• p.Ala1419= Multiple submitters hereditary neoplastic syndrome
• p.Ala152= Multiple submitters hereditary neoplastic syndrome
• p.Ala1536= Multiple submitters hereditary neoplastic syndrome
• p.Ala161= Multiple submitters hereditary neoplastic syndrome
• p.Ala1622= Multiple submitters hereditary neoplastic syndrome
• p.Ala186= Multiple submitters hereditary neoplastic syndrome
• p.Ala245= Multiple submitters hereditary neoplastic syndrome
• p.Ala26= Multiple submitters hereditary neoplastic syndrome
• p.Ala292= Multiple submitters hereditary neoplastic syndrome
• p.Ala294= Multiple submitters hereditary neoplastic syndrome
• p.Ala322= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala340= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala379= Multiple submitters hereditary neoplastic syndrome
• p.Ala393= Multiple submitters hereditary neoplastic syndrome
• p.Ala400= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala433= Multiple submitters hereditary neoplastic syndrome
• p.Ala450= Multiple submitters hereditary neoplastic syndrome
• p.Ala532= Multiple submitters hereditary neoplastic syndrome
• p.Ala562= Multiple submitters hereditary neoplastic syndrome
• p.Ala574= Multiple submitters hereditary neoplastic syndrome
• p.Ala592= Multiple submitters hereditary neoplastic syndrome
• p.Ala633= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala652= Multiple submitters hereditary neoplastic syndrome
• p.Ala677= Multiple submitters hereditary neoplastic syndrome
• p.Ala703= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala723= Multiple submitters hereditary neoplastic syndrome
• p.Ala735= Multiple submitters hereditary neoplastic syndrome
• p.Ala747= Multiple submitters hereditary neoplastic syndrome
• p.Ala778= Multiple submitters hereditary neoplastic syndrome
• p.Ala791= Multiple submitters hereditary neoplastic syndrome
• p.Ala819= Multiple submitters hereditary neoplastic syndrome
• p.Ala826= Multiple submitters hereditary neoplastic syndrome
• p.Ala843= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala871= Multiple submitters hereditary neoplastic syndrome
• p.Ala903= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Ala923= Multiple submitters hereditary neoplastic syndrome
• p.Ala948= Multiple submitters hereditary neoplastic syndrome
• p.Arg1009= Multiple submitters hereditary neoplastic syndrome
• p.Arg1135= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1200= Multiple submitters hereditary neoplastic syndrome
• p.Arg13= Multiple submitters hereditary neoplastic syndrome
• p.Arg1323= Multiple submitters hereditary neoplastic syndrome
• p.Arg1333= Multiple submitters hereditary neoplastic syndrome
• p.Arg1356= Multiple submitters hereditary neoplastic syndrome
• p.Arg1369= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1405= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1445= Multiple submitters hereditary neoplastic syndrome
• p.Arg1502= Multiple submitters hereditary neoplastic syndrome
• p.Arg1513= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg1520= Multiple submitters hereditary neoplastic syndrome
• p.Arg1601= Multiple submitters hereditary neoplastic syndrome
• p.Arg1621= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg310= Multiple submitters hereditary neoplastic syndrome
• p.Arg351= Multiple submitters hereditary neoplastic syndrome
• p.Arg359= Multiple submitters hereditary neoplastic syndrome
• p.Arg397= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg408= Multiple submitters hereditary neoplastic syndrome
• p.Arg417= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg441= Multiple submitters hereditary neoplastic syndrome
• p.Arg444= Multiple submitters hereditary neoplastic syndrome
• p.Arg466= Multiple submitters hereditary neoplastic syndrome
• p.Arg468= Multiple submitters hereditary neoplastic syndrome
• p.Arg469= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg513= Multiple submitters hereditary neoplastic syndrome
• p.Arg521= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg526= Multiple submitters hereditary neoplastic syndrome
• p.Arg528= Multiple submitters hereditary neoplastic syndrome
• p.Arg529= Multiple submitters hereditary neoplastic syndrome
• p.Arg654= Multiple submitters hereditary neoplastic syndrome
• p.Arg841= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg842= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg885= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg906= Multiple submitters hereditary neoplastic syndrome
• p.Arg967= Multiple submitters hereditary neoplastic syndrome
• p.Arg973= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Arg979= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asn1096= Multiple submitters hereditary neoplastic syndrome
• p.Asn1143= Multiple submitters hereditary neoplastic syndrome
• p.Asn1197= Multiple submitters hereditary neoplastic syndrome
• p.Asn1208= Multiple submitters hereditary neoplastic syndrome
• p.Asn1454= Multiple submitters hereditary neoplastic syndrome
• p.Asn1457= Multiple submitters hereditary neoplastic syndrome
• p.Asn1516= Multiple submitters hereditary neoplastic syndrome
• p.Asn1523= Multiple submitters hereditary neoplastic syndrome
• p.Asn173= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asn175= Multiple submitters hereditary neoplastic syndrome
• p.Asn259= Multiple submitters hereditary neoplastic syndrome
• p.Asn387= Multiple submitters hereditary neoplastic syndrome
• p.Asn477= Multiple submitters hereditary neoplastic syndrome
• p.Asn563= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asn68= Multiple submitters hereditary neoplastic syndrome
• p.Asn709= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asn751= Multiple submitters hereditary neoplastic syndrome
• p.Asn771= Multiple submitters hereditary neoplastic syndrome
• p.Asn772= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asn774= Multiple submitters hereditary neoplastic syndrome
• p.Asn817= Multiple submitters hereditary neoplastic syndrome
• p.Asn898= Multiple submitters hereditary neoplastic syndrome
• p.Asn916= Multiple submitters hereditary neoplastic syndrome
• p.Asn944= Multiple submitters hereditary neoplastic syndrome
• p.Asp1025= Multiple submitters hereditary neoplastic syndrome
• p.Asp1086= Multiple submitters hereditary neoplastic syndrome
• p.Asp1114= Multiple submitters hereditary neoplastic syndrome
• p.Asp1134= Multiple submitters hereditary neoplastic syndrome
• p.Asp1169= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1177= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1183= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1225= Multiple submitters hereditary neoplastic syndrome
• p.Asp1257= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1284= Multiple submitters hereditary neoplastic syndrome
• p.Asp1294= Multiple submitters hereditary neoplastic syndrome
• p.Asp1298= Multiple submitters intellectual disability, autosomal dominant 16
• p.Asp1299= Multiple submitters hereditary neoplastic syndrome
• p.Asp1314= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1322= Multiple submitters hereditary neoplastic syndrome
• p.Asp1341= Multiple submitters hereditary neoplastic syndrome
• p.Asp1350= Multiple submitters hereditary neoplastic syndrome
• p.Asp1416= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1435= Multiple submitters hereditary neoplastic syndrome
• p.Asp1569= Multiple submitters hereditary neoplastic syndrome
• p.Asp158= Multiple submitters hereditary neoplastic syndrome
• p.Asp1628= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp1638= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp427= Multiple submitters hereditary neoplastic syndrome
• p.Asp5= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp543= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp558= Multiple submitters hereditary neoplastic syndrome
• p.Asp607= Multiple submitters hereditary neoplastic syndrome
• p.Asp614= Multiple submitters hereditary neoplastic syndrome
• p.Asp692= Multiple submitters hereditary neoplastic syndrome
• p.Asp694= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp697= Multiple submitters hereditary neoplastic syndrome
• p.Asp702= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp716= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp743= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp779= Multiple submitters hereditary neoplastic syndrome
• p.Asp87= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Asp881= Multiple submitters hereditary neoplastic syndrome
• p.Asp999= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Cys1046= Multiple submitters hereditary neoplastic syndrome
• p.Cys1103= Multiple submitters hereditary neoplastic syndrome
• p.Cys1262= Multiple submitters hereditary neoplastic syndrome
• p.Cys891= Multiple submitters hereditary neoplastic syndrome
• p.Cys998= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln1004= Multiple submitters hereditary neoplastic syndrome
• p.Gln1071= Multiple submitters hereditary neoplastic syndrome
• p.Gln1104= Multiple submitters intellectual disability, autosomal dominant 16
• p.Gln1196= Multiple submitters hereditary neoplastic syndrome
• p.Gln1236= Multiple submitters hereditary neoplastic syndrome
• p.Gln1304= Multiple submitters hereditary neoplastic syndrome
• p.Gln1387= Multiple submitters hereditary neoplastic syndrome
• p.Gln1406= Multiple submitters hereditary neoplastic syndrome
• p.Gln1534= Multiple submitters hereditary neoplastic syndrome
• p.Gln1635= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln165= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln176= Multiple submitters hereditary neoplastic syndrome
• p.Gln179= Multiple submitters hereditary neoplastic syndrome
• p.Gln201= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln201Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln205= Multiple submitters hereditary neoplastic syndrome
• p.Gln214= Multiple submitters hereditary neoplastic syndrome
• p.Gln275= Multiple submitters hereditary neoplastic syndrome
• p.Gln306= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln329= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln338= Multiple submitters hereditary neoplastic syndrome
• p.Gln347= Multiple submitters hereditary neoplastic syndrome
• p.Gln460= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln470= Multiple submitters hereditary neoplastic syndrome
• p.Gln544= Multiple submitters hereditary neoplastic syndrome
• p.Gln555= Multiple submitters hereditary neoplastic syndrome
• p.Gln59= Multiple submitters hereditary neoplastic syndrome
• p.Gln611= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln673= Multiple submitters hereditary neoplastic syndrome
• p.Gln712= Multiple submitters hereditary neoplastic syndrome
• p.Gln722= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln729= Multiple submitters hereditary neoplastic syndrome
• p.Gln847= Multiple submitters hereditary neoplastic syndrome
• p.Gln915= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Gln941= Multiple submitters hereditary neoplastic syndrome
• p.Gln987= Multiple submitters hereditary neoplastic syndrome
• p.Glu1133= Multiple submitters hereditary neoplastic syndrome
• p.Glu1144= Multiple submitters hereditary neoplastic syndrome
• p.Glu1148= Multiple submitters hereditary neoplastic syndrome
• p.Glu1198= Multiple submitters hereditary neoplastic syndrome
• p.Glu1211= Multiple submitters hereditary neoplastic syndrome
• p.Glu1242= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1287= Multiple submitters hereditary neoplastic syndrome
• p.Glu1293= Multiple submitters hereditary neoplastic syndrome
• p.Glu1295= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1312= Multiple submitters hereditary neoplastic syndrome
• p.Glu1327= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1353= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1355= Multiple submitters hereditary neoplastic syndrome
• p.Glu1360= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1362= Multiple submitters hereditary neoplastic syndrome
• p.Glu1363= Multiple submitters hereditary neoplastic syndrome
• p.Glu1398= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1402= Multiple submitters rhabdoid tumor predisposition syndrome 2
• p.Glu1436= Multiple submitters hereditary neoplastic syndrome
• p.Glu1483= Multiple submitters hereditary neoplastic syndrome
• p.Glu1493= Multiple submitters hereditary neoplastic syndrome
• p.Glu1496= Multiple submitters hereditary neoplastic syndrome