TAF1L — 244 ClinVar variants

All ClinVar germline TAF1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →

1 Conflicting · 1 Benign · 10 Likely benign · 232 Uncertain significance

Full TAF1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 229

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

Predictors agree, ClinVar conflicts 1

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

TAF1L p.Pro1266Arg Conflicting Single submitter

Predictors lean, ClinVar uncertain 173

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 173

Predictors split 55

The independent predictors disagree with each other — read with care.

All TAF1L variants

Conflicting classifications of pathogenicity 1

p.Pro1266Arg Single submitter ⚠

Benign 1

p.Gly256Ala Single submitter

Likely benign 10

p.Ala906= Single submitter
p.Arg1149Gln Single submitter
p.Arg366Gln Single submitter
p.Asp1779= Single submitter
p.Gln757= Single submitter
p.Ile1618Val Single submitter
p.Lys1176Asn Single submitter
p.Thr1677Met Single submitter
p.Val15Ile Single submitter
p.Val464Ala Single submitter

Uncertain significance 232

p.Ala1067Val Single submitter ⚠
p.Ala106Val Single submitter ⚠
p.Ala1208Pro Single submitter ⚠
p.Ala1212Thr Single submitter ⚠
p.Ala1288Pro Single submitter ⚠
p.Ala1640Thr Single submitter ⚠
p.Ala1745Gly Single submitter ⚠
p.Ala1776Val Single submitter ⚠
p.Ala18Thr Single submitter ⚠
p.Ala232Ser Single submitter ⚠
p.Ala675Pro Single submitter ⚠
p.Ala700Val Single submitter ⚠
p.Ala82Glu Single submitter ⚠
p.Ala913Gly Single submitter ⚠
p.Arg1015Gly Single submitter ⚠
p.Arg1016His Single submitter ⚠
p.Arg1027Cys Single submitter ⚠
p.Arg1049Cys Single submitter ⚠
p.Arg1049Gly Single submitter ⚠
p.Arg1049His Single submitter ⚠
p.Arg1068Cys Single submitter ⚠
p.Arg1087Cys Single submitter ⚠
p.Arg1145Trp Single submitter ⚠
p.Arg1150Gln Single submitter ⚠
p.Arg1215Cys Single submitter ⚠
p.Arg1215Leu Single submitter ⚠
p.Arg1217Gln Single submitter ⚠
p.Arg1217Trp Single submitter ⚠
p.Arg1243Gln Single submitter ⚠
p.Arg1276His Single submitter ⚠
p.Arg1375Gln Single submitter ⚠
p.Arg1376Ter Single submitter
p.Arg1396Cys Single submitter ⚠
p.Arg1397Cys Single submitter ⚠
p.Arg1442Trp Single submitter ⚠
p.Arg1454Cys Single submitter ⚠
p.Arg1509Cys Single submitter ⚠
p.Arg1584Gln Single submitter ⚠
p.Arg1584Leu Single submitter ⚠
p.Arg260His Single submitter ⚠
p.Arg276Trp Single submitter ⚠
p.Arg286Gly Single submitter ⚠
p.Arg361His Single submitter ⚠
p.Arg462Lys Single submitter ⚠
p.Arg498Cys Single submitter ⚠
p.Arg600Trp Single submitter ⚠
p.Arg632Gln Single submitter ⚠
p.Arg685His Single submitter ⚠
p.Arg817Lys Single submitter ⚠
p.Arg840Trp Single submitter ⚠
p.Arg845Gln Single submitter ⚠
p.Arg845Leu Single submitter ⚠
p.Arg888His Single submitter ⚠
p.Asn1021Ser Single submitter ⚠
p.Asn1163Ser Single submitter ⚠
p.Asn1592Lys Single submitter ⚠
p.Asn1672Lys Single submitter ⚠
p.Asn1689Asp Single submitter ⚠
p.Asn819Ser Single submitter ⚠
p.Asn83Asp Single submitter ⚠
p.Asp1046Asn Single submitter ⚠
p.Asp1113Gly Single submitter ⚠
p.Asp1221Glu Single submitter ⚠
p.Asp1417Gly Single submitter ⚠
p.Asp1497His Single submitter ⚠
p.Asp1636Val Single submitter ⚠
p.Asp1670Asn Single submitter ⚠
p.Asp1719Val Single submitter ⚠
p.Asp1725Asn Single submitter ⚠
p.Asp1725Glu Single submitter ⚠
p.Asp1743Glu Single submitter ⚠
p.Asp183Asn Single submitter ⚠
p.Asp224Asn Single submitter ⚠
p.Asp314Val Single submitter ⚠
p.Asp328Val Single submitter ⚠
p.Asp418Gly Single submitter ⚠
p.Asp431Glu Single submitter ⚠
p.Asp490Asn Single submitter ⚠
p.Asp501Asn Single submitter ⚠
p.Asp944Asn Single submitter ⚠
p.Asp997Gly Single submitter ⚠
p.Cys5Trp Single submitter ⚠
p.Gln1001Arg Single submitter ⚠
p.Gln1024His Single submitter ⚠
p.Gln1703His Single submitter ⚠
p.Gln307His Single submitter ⚠
p.Gln671Arg Single submitter ⚠
p.Glu104Lys Single submitter ⚠
p.Glu1079Gln Single submitter ⚠
p.Glu114Gln Single submitter ⚠
p.Glu1197Val Single submitter ⚠
p.Glu1242Gly Single submitter ⚠
p.Glu1819Lys Single submitter ⚠
p.Glu537Lys Single submitter ⚠
p.Glu794Val Single submitter ⚠
p.Glu945Lys Single submitter ⚠
p.Gly1264Val Single submitter ⚠
p.Gly1284Arg Single submitter ⚠
p.Gly1345Val Single submitter ⚠
p.Gly1659Arg Single submitter ⚠
p.Gly1712Asp Single submitter ⚠
p.Gly1742Ser Single submitter ⚠
p.Gly412Ser Single submitter ⚠
p.Gly43Ser Single submitter
p.Gly454Asp Single submitter ⚠
p.Gly53Arg Single submitter ⚠
p.Gly601Cys Single submitter ⚠
p.Gly604Glu Single submitter ⚠
p.Gly67Asp Single submitter ⚠
p.His64Gln Single submitter ⚠
p.Ile1109Met Single submitter ⚠
p.Ile1123Val Single submitter ⚠
p.Ile1186Val Single submitter ⚠
p.Ile1225Phe Single submitter ⚠
p.Ile1439Val Single submitter ⚠
p.Ile1529Leu Single submitter ⚠
p.Ile1805Lys Single submitter ⚠
p.Ile489Leu Single submitter ⚠
p.Ile489Val Single submitter ⚠
p.Ile662Val Single submitter ⚠
p.Ile895Val Single submitter ⚠
p.Ile987Thr Single submitter ⚠
p.Leu1025Ile Single submitter ⚠
p.Leu1152Pro Single submitter ⚠
p.Leu1253Arg Single submitter ⚠
p.Leu1334Pro Single submitter ⚠
p.Leu1500Phe Single submitter ⚠
p.Leu264His Single submitter ⚠
p.Leu697Ile Single submitter ⚠
p.Leu766Ile Single submitter ⚠
p.Leu795Ile Single submitter ⚠
p.Leu833Phe Single submitter ⚠
p.Leu966Phe Single submitter ⚠
p.Lys1363Arg Single submitter ⚠
p.Lys153Asn Single submitter ⚠
p.Lys1731Glu Single submitter ⚠
p.Lys354Gln Single submitter ⚠
p.Lys836Asn Single submitter ⚠
p.Lys872Arg Single submitter ⚠
p.Lys964Arg Single submitter ⚠
p.Met1063Val Single submitter ⚠
p.Met1314Ile Single submitter ⚠
p.Met1668Thr Single submitter ⚠
p.Met235Ile Single submitter ⚠
p.Met510Val Single submitter ⚠
p.Met626Leu Single submitter ⚠
p.Met626Val Single submitter ⚠
p.Met820Val Single submitter ⚠
p.Met846Ile Single submitter ⚠
p.Met876Leu Single submitter ⚠
p.Met876Val Single submitter ⚠
p.Met961Thr Single submitter ⚠
p.Phe1224Ser Single submitter ⚠
p.Phe261Ser Single submitter ⚠
p.Phe265Val Single submitter ⚠
p.Phe404fs Single submitter
p.Phe421Tyr Single submitter ⚠
p.Phe487Leu Single submitter ⚠
p.Phe603Tyr Single submitter ⚠
p.Phe781Leu Single submitter ⚠
p.Phe957Ser Single submitter ⚠
p.Pro1389Arg Single submitter ⚠
p.Pro1423fs Single submitter
p.Pro1516Ala Single submitter ⚠
p.Pro1557Ala Single submitter ⚠
p.Pro1557Ser Single submitter ⚠
p.Pro156Arg Single submitter ⚠
p.Pro156Ser Single submitter ⚠
p.Pro161Ser Single submitter ⚠
p.Pro1660Ala Single submitter ⚠
p.Pro1734Ala Single submitter ⚠
p.Pro1807Ser Single submitter ⚠
p.Pro192Arg Single submitter ⚠
p.Pro214Leu Single submitter ⚠
p.Pro255Leu Single submitter ⚠
p.Pro475Ser Single submitter ⚠
p.Pro583Ala Single submitter ⚠
p.Pro650Leu Single submitter ⚠
p.Pro687Ser Single submitter ⚠
p.Pro841Ser Single submitter ⚠
p.Pro854Thr Single submitter ⚠
p.Pro890Leu Single submitter ⚠
p.Pro930Arg Single submitter ⚠
p.Ser1359Cys Single submitter ⚠
p.Ser136Trp Single submitter ⚠
p.Ser1577Cys Single submitter ⚠
p.Ser1586Gly Single submitter ⚠
p.Ser1691Cys Single submitter ⚠
p.Ser1696Phe Single submitter ⚠
p.Ser23Trp Single submitter ⚠
p.Ser245Gly Single submitter ⚠
p.Ser338Thr Single submitter ⚠
p.Ser341Pro Single submitter ⚠
p.Ser451Ile Single submitter ⚠
p.Ser46Gly Single submitter ⚠
p.Ser837Thr Single submitter ⚠
p.Thr1010Ala Single submitter ⚠
p.Thr1189Ala Single submitter ⚠
p.Thr1340Ile Single submitter ⚠
p.Thr14Ala Single submitter ⚠
p.Thr331Met Single submitter ⚠
p.Thr445Lys Single submitter ⚠
p.Thr564Ala Single submitter ⚠
p.Thr81Met Single submitter ⚠
p.Thr992Ala Single submitter ⚠
p.Trp880Arg Single submitter ⚠
p.Trp99Arg Single submitter ⚠
p.Tyr1560Cys Single submitter ⚠
p.Tyr1581Cys Single submitter ⚠
p.Tyr1608Phe Single submitter ⚠
p.Tyr1723Phe Single submitter ⚠
p.Tyr315His Single submitter ⚠
p.Tyr315Phe Single submitter ⚠
p.Tyr722His Single submitter ⚠
p.Tyr772Cys Single submitter ⚠
p.Tyr791Cys Single submitter ⚠
p.Val1337Ile Single submitter ⚠
p.Val1343Leu Single submitter ⚠
p.Val1402Ala Single submitter ⚠
p.Val1402Glu Single submitter ⚠
p.Val1432Ile Single submitter ⚠
p.Val1432Leu Single submitter ⚠
p.Val1432Phe Single submitter ⚠
p.Val1541Ile Single submitter ⚠
p.Val1541Leu Single submitter ⚠
p.Val1591Ile Single submitter ⚠
p.Val1616Leu Single submitter ⚠
p.Val1683Ile Single submitter ⚠
p.Val347Ala Single submitter ⚠
p.Val566Asp Single submitter ⚠
p.Val882Leu Single submitter ⚠
p.Val946Ile Single submitter ⚠