CLTCL1 — 357 ClinVar variants
All ClinVar germline CLTCL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 285 flagged for review →
7 Conflicting · 30 Benign · 5 Benign/Likely benign · 45 Likely benign · 270 Uncertain significance
Full CLTCL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 285
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLTCL1 p.Gln1113Lys Uncertain significance Multiple submitters
- CLTCL1 p.Gln1142Arg Uncertain significance Multiple submitters
- CLTCL1 p.Gly464Arg Uncertain significance Multiple submitters
- CLTCL1 p.Ala1352Val Uncertain significance Single submitter
- CLTCL1 p.Ala1567Thr Uncertain significance Single submitter
- CLTCL1 p.Ala210Asp Uncertain significance Single submitter
- CLTCL1 p.Ala213Ser Uncertain significance Single submitter
- CLTCL1 p.Ala406Val Uncertain significance Single submitter
- CLTCL1 p.Ala835Thr Uncertain significance Single submitter
- CLTCL1 p.Ala898Gly Uncertain significance Single submitter
- CLTCL1 p.Arg1046Pro Uncertain significance Single submitter
- CLTCL1 p.Arg1101Ser Uncertain significance Single submitter
- CLTCL1 p.Arg1130Lys Uncertain significance Single submitter
- CLTCL1 p.Arg1350Lys Uncertain significance Single submitter
- CLTCL1 p.Arg1429Gln Uncertain significance Single submitter
- CLTCL1 p.Arg1620Cys Uncertain significance Single submitter
- CLTCL1 p.Arg534Leu Uncertain significance Single submitter
- CLTCL1 p.Asn1002Asp Uncertain significance Single submitter
- CLTCL1 p.Asn1518Tyr Uncertain significance Single submitter
- CLTCL1 p.Asn674Asp Uncertain significance Single submitter
- CLTCL1 p.Asn935Asp Uncertain significance Single submitter
- CLTCL1 p.Asp1488Asn Uncertain significance Single submitter
- CLTCL1 p.Asp1580Ala Uncertain significance Single submitter
- CLTCL1 p.Asp1614Val Uncertain significance Single submitter
- CLTCL1 p.Asp286His Uncertain significance Single submitter
- CLTCL1 p.Asp539Asn Uncertain significance Single submitter
- CLTCL1 p.Asp539Gly Uncertain significance Single submitter
- CLTCL1 p.Cys1272Arg Uncertain significance Single submitter
- CLTCL1 p.Cys617Arg Uncertain significance Single submitter
- CLTCL1 p.Cys736Ser Uncertain significance Single submitter
- CLTCL1 p.Gln1456His Uncertain significance Single submitter
- CLTCL1 p.Gln265Glu Uncertain significance Single submitter
- CLTCL1 p.Gln446Glu Uncertain significance Single submitter
- CLTCL1 p.Gln581Arg Uncertain significance Single submitter
- CLTCL1 p.Gln867Glu Uncertain significance Single submitter
- CLTCL1 p.Gln973Lys Uncertain significance Single submitter
- CLTCL1 p.Glu1172Ala Uncertain significance Single submitter
- CLTCL1 p.Glu1559Asp Uncertain significance Single submitter
- CLTCL1 p.Glu160Lys Uncertain significance Single submitter
- CLTCL1 p.Glu1623Lys Uncertain significance Single submitter
- CLTCL1 p.Glu1624Lys Uncertain significance Single submitter
- CLTCL1 p.Glu431Gln Uncertain significance Single submitter
- CLTCL1 p.Glu431Lys Uncertain significance Single submitter
- CLTCL1 p.Gly280Arg Uncertain significance Single submitter
- CLTCL1 p.His1021Tyr Uncertain significance Single submitter
- CLTCL1 p.His309Gln Uncertain significance Single submitter
- CLTCL1 p.His309Tyr Uncertain significance Single submitter
- CLTCL1 p.Ile1033Val Uncertain significance Single submitter
- CLTCL1 p.Ile1169Val Uncertain significance Single submitter
- CLTCL1 p.Ile1276Val Uncertain significance Single submitter
- CLTCL1 p.Ile776Val Uncertain significance Single submitter
- CLTCL1 p.Ile800Asn Uncertain significance Single submitter
- CLTCL1 p.Ile80Thr Uncertain significance Single submitter
- CLTCL1 p.Ile829Val Uncertain significance Single submitter
- CLTCL1 p.Ile833Met Uncertain significance Single submitter
- CLTCL1 p.Leu15Pro Uncertain significance Single submitter
- CLTCL1 p.Leu862Arg Uncertain significance Single submitter
- CLTCL1 p.Leu862Pro Uncertain significance Single submitter
- CLTCL1 p.Lys1118Arg Uncertain significance Single submitter
- CLTCL1 p.Lys1162Arg Uncertain significance Single submitter
- CLTCL1 p.Lys1516Gln Uncertain significance Single submitter
- CLTCL1 p.Lys1552Asn Uncertain significance Single submitter
- CLTCL1 p.Lys362Arg Uncertain significance Single submitter
- CLTCL1 p.Lys445Met Uncertain significance Single submitter
- CLTCL1 p.Met1077Lys Uncertain significance Single submitter
- CLTCL1 p.Met1314Val Uncertain significance Single submitter
- CLTCL1 p.Met139Leu Uncertain significance Single submitter
- CLTCL1 p.Met1505Thr Uncertain significance Single submitter
- CLTCL1 p.Met535Thr Uncertain significance Single submitter
- CLTCL1 p.Phe142Ser Uncertain significance Single submitter
- CLTCL1 p.Phe252Ser Uncertain significance Single submitter
- CLTCL1 p.Phe304Leu Uncertain significance Single submitter
- CLTCL1 p.Pro526Ala Uncertain significance Single submitter
- CLTCL1 p.Pro526Leu Uncertain significance Single submitter
- CLTCL1 p.Ser1127Phe Uncertain significance Single submitter
- CLTCL1 p.Ser115Thr Uncertain significance Single submitter
- CLTCL1 p.Ser289Pro Uncertain significance Single submitter
- CLTCL1 p.Ser28Asn Uncertain significance Single submitter
- CLTCL1 p.Ser707Arg Uncertain significance Single submitter
- CLTCL1 p.Thr1031Ser Uncertain significance Single submitter
- CLTCL1 p.Thr1252Met Uncertain significance Single submitter
- CLTCL1 p.Thr277Lys Uncertain significance Single submitter
- CLTCL1 p.Thr469Asn Uncertain significance Single submitter
- CLTCL1 p.Tyr156Ser Uncertain significance Single submitter
- CLTCL1 p.Tyr479Asp Uncertain significance Single submitter
- CLTCL1 p.Val119Ile Uncertain significance Single submitter
- CLTCL1 p.Val1401Ile Uncertain significance Single submitter
- CLTCL1 p.Val1448Leu Uncertain significance Single submitter
- CLTCL1 p.Val305Ile Uncertain significance Single submitter
- CLTCL1 p.Val521Ile Uncertain significance Single submitter
- CLTCL1 p.Val933Met Uncertain significance Single submitter
- CLTCL1 p.Val974Met Uncertain significance Single submitter
-
CLTCL1 p.Glu801Asp
Uncertain significance
No assertion criteria
CLTCL1-related disorder
Predictors split 190
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 190
-
CLTCL1 p.Arg1165Cys
Benign
Multiple submitters
autism
- CLTCL1 p.Arg1226Cys Uncertain significance Multiple submitters
- CLTCL1 p.Arg574His Benign/Likely benign Multiple submitters
- CLTCL1 p.Arg945His Benign Multiple submitters
- CLTCL1 p.Asn240Ser Likely benign Multiple submitters
- CLTCL1 p.Glu1212Lys Uncertain significance Multiple submitters
- CLTCL1 p.Ile747Leu Likely benign Multiple submitters
- CLTCL1 p.Ser1061Gly Uncertain significance Multiple submitters
- CLTCL1 p.Ser707Gly Uncertain significance Multiple submitters
- CLTCL1 p.Tyr279Cys Benign Multiple submitters
- CLTCL1 p.Val1592Leu Benign Multiple submitters
- CLTCL1 p.Val1592Met Benign Multiple submitters
- CLTCL1 p.Val44Phe Benign Multiple submitters
- CLTCL1 p.Val948Gly Uncertain significance Multiple submitters
- CLTCL1 p.Ala1063Val Uncertain significance Single submitter
- CLTCL1 p.Ala1099Val Uncertain significance Single submitter
- CLTCL1 p.Ala1112Gly Uncertain significance Single submitter
- CLTCL1 p.Ala1144Thr Uncertain significance Single submitter
- CLTCL1 p.Ala120Val Uncertain significance Single submitter
- CLTCL1 p.Ala126Thr Likely benign Single submitter
- CLTCL1 p.Ala126Val Uncertain significance Single submitter
- CLTCL1 p.Ala1385Thr Uncertain significance Single submitter
- CLTCL1 p.Ala1385Val Uncertain significance Single submitter
- CLTCL1 p.Ala1466Thr Uncertain significance Single submitter
- CLTCL1 p.Ala1511Val Likely benign Single submitter
- CLTCL1 p.Ala2Val Conflicting Single submitter
- CLTCL1 p.Ala381Thr Uncertain significance Single submitter
- CLTCL1 p.Ala614Val Uncertain significance Single submitter
- CLTCL1 p.Ala734Thr Uncertain significance Single submitter
- CLTCL1 p.Arg1037Cys Uncertain significance Single submitter
- CLTCL1 p.Arg1046Cys Benign Single submitter
- CLTCL1 p.Arg1094Gln Uncertain significance Single submitter
- CLTCL1 p.Arg1094Trp Uncertain significance Single submitter
- CLTCL1 p.Arg1182His Uncertain significance Single submitter
- CLTCL1 p.Arg1204Gly Uncertain significance Single submitter
- CLTCL1 p.Arg1204His Uncertain significance Single submitter
- CLTCL1 p.Arg1267Cys Uncertain significance Single submitter
- CLTCL1 p.Arg1342Cys Uncertain significance Single submitter
- CLTCL1 p.Arg1429Trp Uncertain significance Single submitter
- CLTCL1 p.Arg1545Trp Uncertain significance Single submitter
- CLTCL1 p.Arg1578His Uncertain significance Single submitter
- CLTCL1 p.Arg157Gln Uncertain significance Single submitter
- CLTCL1 p.Arg1604Lys Uncertain significance Single submitter
- CLTCL1 p.Arg297Gly Uncertain significance Single submitter
- CLTCL1 p.Arg444Leu Uncertain significance Single submitter
- CLTCL1 p.Arg481Gln Likely benign Single submitter
- CLTCL1 p.Arg481Trp Uncertain significance Single submitter
- CLTCL1 p.Arg610Trp Uncertain significance Single submitter
- CLTCL1 p.Arg64Trp Uncertain significance Single submitter
- CLTCL1 p.Arg749Gln Uncertain significance Single submitter
- CLTCL1 p.Arg758Gly Uncertain significance Single submitter
- CLTCL1 p.Arg793Leu Uncertain significance Single submitter
- CLTCL1 p.Arg907Cys Uncertain significance Single submitter
- CLTCL1 p.Arg912Gln Uncertain significance Single submitter
- CLTCL1 p.Arg923Gln Uncertain significance Single submitter
- CLTCL1 p.Arg923Trp Uncertain significance Single submitter
- CLTCL1 p.Arg968Gly Uncertain significance Single submitter
- CLTCL1 p.Arg983Trp Uncertain significance Single submitter
- CLTCL1 p.Asn1344Asp Uncertain significance Single submitter
- CLTCL1 p.Asn1344Ser Uncertain significance Single submitter
- CLTCL1 p.Asn1400Ser Uncertain significance Single submitter
- CLTCL1 p.Asn296Ser Uncertain significance Single submitter
- CLTCL1 p.Asn794Asp Uncertain significance Single submitter
- CLTCL1 p.Asn794Lys Uncertain significance Single submitter
- CLTCL1 p.Asn887Ser Uncertain significance Single submitter
- CLTCL1 p.Asp1132Gly Uncertain significance Single submitter
- CLTCL1 p.Asp1488His Uncertain significance Single submitter
- CLTCL1 p.Asp1546Gly Uncertain significance Single submitter
- CLTCL1 p.Asp1593Asn Uncertain significance Single submitter
- CLTCL1 p.Asp423Tyr Uncertain significance Single submitter
- CLTCL1 p.Asp726Ala Uncertain significance Single submitter
- CLTCL1 p.Asp726Asn Uncertain significance Single submitter
- CLTCL1 p.Asp885Asn Uncertain significance Single submitter
- CLTCL1 p.Asp901Tyr Uncertain significance Single submitter
- CLTCL1 p.Cys217Phe Uncertain significance Single submitter
- CLTCL1 p.Gln1444Arg Uncertain significance Single submitter
- CLTCL1 p.Gln1444His Uncertain significance Single submitter
- CLTCL1 p.Gln1601Arg Uncertain significance Single submitter
- CLTCL1 p.Gln441Leu Uncertain significance Single submitter
- CLTCL1 p.Glu1067Val Uncertain significance Single submitter
- CLTCL1 p.Glu1087Lys Benign Single submitter
- CLTCL1 p.Glu11Gln Uncertain significance Single submitter
- CLTCL1 p.Glu1369Gln Uncertain significance Single submitter
- CLTCL1 p.Glu1369Lys Uncertain significance Single submitter
- CLTCL1 p.Glu1474Lys Uncertain significance Single submitter
- CLTCL1 p.Glu1506Lys Uncertain significance Single submitter
- CLTCL1 p.Glu330Lys Conflicting Single submitter
- CLTCL1 p.Glu454Lys Uncertain significance Single submitter
- CLTCL1 p.Glu46Lys Uncertain significance Single submitter
- CLTCL1 p.Glu577Ala Uncertain significance Single submitter
- CLTCL1 p.Glu649Lys Conflicting Single submitter
- CLTCL1 p.Gly234Val Uncertain significance Single submitter
- CLTCL1 p.Gly26Arg Uncertain significance Single submitter
- CLTCL1 p.Gly359Glu Uncertain significance Single submitter
- CLTCL1 p.Gly375Arg Uncertain significance Single submitter
- CLTCL1 p.Gly419Arg Uncertain significance Single submitter
- CLTCL1 p.Gly601Arg Uncertain significance Single submitter
- CLTCL1 p.Gly869Val Uncertain significance Single submitter
- CLTCL1 p.Gly924Glu Uncertain significance Single submitter
- CLTCL1 p.His129Tyr Uncertain significance Single submitter
- CLTCL1 p.His155Pro Uncertain significance Single submitter
- CLTCL1 p.His229Arg Uncertain significance Single submitter
- CLTCL1 p.His591Leu Uncertain significance Single submitter
- CLTCL1 p.His607Arg Uncertain significance Single submitter
- CLTCL1 p.His690Tyr Uncertain significance Single submitter
- CLTCL1 p.His728Gln Uncertain significance Single submitter
- CLTCL1 p.Ile1033Phe Conflicting Single submitter
- CLTCL1 p.Ile1174Thr Uncertain significance Single submitter
- CLTCL1 p.Ile1190Val Uncertain significance Single submitter
- CLTCL1 p.Ile1484Met Uncertain significance Single submitter
- CLTCL1 p.Ile154Val Uncertain significance Single submitter
- CLTCL1 p.Ile194Leu Uncertain significance Single submitter
- CLTCL1 p.Ile25Thr Uncertain significance Single submitter
- CLTCL1 p.Ile316Thr Uncertain significance Single submitter
- CLTCL1 p.Ile38Leu Uncertain significance Single submitter
- CLTCL1 p.Ile38Val Uncertain significance Single submitter
- CLTCL1 p.Ile404Thr Uncertain significance Single submitter
- CLTCL1 p.Ile501Leu Uncertain significance Single submitter
- CLTCL1 p.Ile66Val Uncertain significance Single submitter
- CLTCL1 p.Ile816Asn Uncertain significance Single submitter
- CLTCL1 p.Ile90Val Uncertain significance Single submitter
- CLTCL1 p.Leu1231Val Uncertain significance Single submitter
- CLTCL1 p.Leu1234Phe Uncertain significance Single submitter
- CLTCL1 p.Leu1299Val Uncertain significance Single submitter
- CLTCL1 p.Leu1309Gln Uncertain significance Single submitter
- CLTCL1 p.Leu1364Phe Uncertain significance Single submitter
- CLTCL1 p.Leu1527Arg Uncertain significance Single submitter
- CLTCL1 p.Leu1570Phe Uncertain significance Single submitter
- CLTCL1 p.Leu1607Pro Uncertain significance Single submitter
- CLTCL1 p.Leu414Phe Uncertain significance Single submitter
- CLTCL1 p.Lys1162Gln Uncertain significance Single submitter
- CLTCL1 p.Lys1326Ile Uncertain significance Single submitter
- CLTCL1 p.Lys205Arg Benign Single submitter
- CLTCL1 p.Lys487Arg Uncertain significance Single submitter
- CLTCL1 p.Lys637Arg Uncertain significance Single submitter
- CLTCL1 p.Lys760Arg Uncertain significance Single submitter
- CLTCL1 p.Met1379Lys Uncertain significance Single submitter
- CLTCL1 p.Phe1266Leu Uncertain significance Single submitter
- CLTCL1 p.Phe1566Leu Uncertain significance Single submitter
- CLTCL1 p.Phe364Ser Uncertain significance Single submitter
- CLTCL1 p.Phe654Leu Uncertain significance Single submitter
- CLTCL1 p.Pro1105Ala Uncertain significance Single submitter
- CLTCL1 p.Pro1346Ser Uncertain significance Single submitter
- CLTCL1 p.Pro1450Ser Uncertain significance Single submitter
- CLTCL1 p.Pro254Leu Uncertain significance Single submitter
- CLTCL1 p.Pro413Ser Uncertain significance Single submitter
- CLTCL1 p.Pro61Leu Benign Single submitter
- CLTCL1 p.Pro725Ser Uncertain significance Single submitter
- CLTCL1 p.Pro953Arg Uncertain significance Single submitter
- CLTCL1 p.Pro953Leu Uncertain significance Single submitter
All CLTCL1 variants
Conflicting classifications of pathogenicity 7
- c.3874-4C>G Single submitter
- p.Ala2Val Single submitter ⚠
- p.Arg1165His Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Glu649Lys Single submitter ⚠
- p.Ile1033Phe Single submitter ⚠
- p.Lys320Arg Single submitter ⚠
Benign 30
- c.4041+5C>T Multiple submitters
- p.Ala352= Multiple submitters
- p.Arg1165Cys Multiple submitters autism ⚠
- p.Arg1620His Multiple submitters
- p.Arg811Gln Multiple submitters
- p.Arg945His Multiple submitters ⚠
- p.Asn1243= Multiple submitters
- p.Lys941Arg Multiple submitters
- p.Met1316Val Multiple submitters
- p.Tyr1574fs Multiple submitters
- p.Tyr279Cys Multiple submitters ⚠
- p.Val1592Leu Multiple submitters ⚠
- p.Val1592Met Multiple submitters ⚠
- p.Val44Phe Multiple submitters ⚠
- c.2128+8A>G Single submitter
- c.3601-1dup Single submitter
- c.4191+10G>A Single submitter
- p.Ala1063= Single submitter
- p.Ala1124= Single submitter
- p.Arg1046Cys Single submitter ⚠
- p.Asn1002= Single submitter
- p.Asn1023Ile Single submitter
- p.Asn1195Ser Single submitter
- p.Glu1087Lys Single submitter ⚠
- p.Glu691Lys Single submitter
- p.Ile1394Thr Single submitter
- p.Lys205Arg Single submitter ⚠
- p.Pro593= Single submitter
- p.Pro61Leu Single submitter ⚠
- p.Leu448Ile No assertion criteria CLTCL1-related disorder ⚠
Benign/Likely benign 5
- c.1644+8T>C Multiple submitters
- p.Arg574His Multiple submitters ⚠
- p.Glu618= Multiple submitters
- p.Pro526= Multiple submitters
- p.Ser171= Multiple submitters
Likely benign 45
- p.Ala105Thr Multiple submitters
- p.Asn240Ser Multiple submitters ⚠
- p.Ile747Leu Multiple submitters ⚠
- c.1644+7G>A Single submitter
- c.43-7T>C Single submitter
- c.4434+7G>A Single submitter
- c.795+5G>A Single submitter
- c.970-10G>A Single submitter
- p.Ala126= Single submitter
- p.Ala126Thr Single submitter ⚠
- p.Ala1305= Single submitter
- p.Ala1511Val Single submitter ⚠
- p.Ala380= Single submitter
- p.Arg1037His Single submitter
- p.Arg1267His Single submitter
- p.Arg1350= Single submitter
- p.Arg481Gln Single submitter ⚠
- p.Arg793His Single submitter
- p.Asp1132= Single submitter
- p.Asp539= Single submitter
- p.Gly1479Ala Single submitter
- p.Gly317= Single submitter
- p.Ile1055= Single submitter
- p.Leu1053Pro Single submitter
- p.Leu1514= Single submitter
- p.Leu1553fs Single submitter
- p.Leu466= Single submitter
- p.Phe418= Single submitter
- p.Ser1019= Single submitter
- p.Ser131Asn Single submitter ⚠
- p.Ser1524= Single submitter
- p.Ser1544= Single submitter
- p.Ser903= Single submitter
- p.Thr51= Single submitter
- p.Val168Ile Single submitter
- p.Val353Ile Single submitter
- c.520-5C>T No assertion criteria CLTCL1-related disorder
- p.Ala1056= No assertion criteria CLTCL1-related disorder
- p.Ala920= No assertion criteria CLTCL1-related disorder
- p.Gly169Asp No assertion criteria CLTCL1-related disorder
- p.Leu1424= No assertion criteria CLTCL1-related disorder
- p.Leu1549= No assertion criteria CLTCL1-related disorder
- p.Leu349= No assertion criteria CLTCL1-related disorder
- p.Leu671= No assertion criteria CLTCL1-related disorder
- p.Val1582= No assertion criteria CLTCL1-related disorder
Uncertain significance 270
- p.Arg1226Cys Multiple submitters ⚠
- p.Gln1113Lys Multiple submitters ⚠
- p.Gln1142Arg Multiple submitters ⚠
- p.Glu1212Lys Multiple submitters ⚠
- p.Gly464Arg Multiple submitters ⚠
- p.Ser1061Gly Multiple submitters ⚠
- p.Ser707Gly Multiple submitters ⚠
- p.Val948Gly Multiple submitters ⚠
- c.1947+4C>G Single submitter
- c.4042-10_4042-8del Single submitter
- c.4191+2dup Single submitter
- p.Ala1063Val Single submitter ⚠
- p.Ala1099Val Single submitter ⚠
- p.Ala1112Gly Single submitter ⚠
- p.Ala1144Thr Single submitter ⚠
- p.Ala120Val Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala1352Val Single submitter ⚠
- p.Ala1385Thr Single submitter ⚠
- p.Ala1385Val Single submitter ⚠
- p.Ala1466Thr Single submitter ⚠
- p.Ala1567Thr Single submitter ⚠
- p.Ala210Asp Single submitter ⚠
- p.Ala213Ser Single submitter ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala406Val Single submitter ⚠
- p.Ala614Val Single submitter ⚠
- p.Ala734Thr Single submitter ⚠
- p.Ala835Thr Single submitter ⚠
- p.Ala898Gly Single submitter ⚠
- p.Arg1037Cys Single submitter ⚠
- p.Arg1046Pro Single submitter ⚠
- p.Arg1094Gln Single submitter ⚠
- p.Arg1094Trp Single submitter ⚠
- p.Arg1101Ser Single submitter ⚠
- p.Arg1130Lys Single submitter ⚠
- p.Arg1182His Single submitter ⚠
- p.Arg1204Gly Single submitter ⚠
- p.Arg1204His Single submitter ⚠
- p.Arg1267Cys Single submitter ⚠
- p.Arg1342Cys Single submitter ⚠
- p.Arg1350Lys Single submitter ⚠
- p.Arg1429Gln Single submitter ⚠
- p.Arg1429Trp Single submitter ⚠
- p.Arg1545Trp Single submitter ⚠
- p.Arg1578His Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg1604Lys Single submitter ⚠
- p.Arg1620Cys Single submitter ⚠
- p.Arg297Gly Single submitter ⚠
- p.Arg444Leu Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Arg534Leu Single submitter ⚠
- p.Arg610Trp Single submitter ⚠
- p.Arg64Trp Single submitter ⚠
- p.Arg749Gln Single submitter ⚠
- p.Arg758Gly Single submitter ⚠
- p.Arg793Leu Single submitter ⚠
- p.Arg907Cys Single submitter ⚠
- p.Arg912Gln Single submitter ⚠
- p.Arg923Gln Single submitter ⚠
- p.Arg923Trp Single submitter ⚠
- p.Arg968Gly Single submitter ⚠
- p.Arg983Trp Single submitter ⚠
- p.Asn1002Asp Single submitter ⚠
- p.Asn1344Asp Single submitter ⚠
- p.Asn1344Ser Single submitter ⚠
- p.Asn1400Ser Single submitter ⚠
- p.Asn1518Tyr Single submitter ⚠
- p.Asn296Ser Single submitter ⚠
- p.Asn674Asp Single submitter ⚠
- p.Asn794Asp Single submitter ⚠
- p.Asn794Lys Single submitter ⚠
- p.Asn887Ser Single submitter ⚠
- p.Asn935Asp Single submitter ⚠
- p.Asp1132Gly Single submitter ⚠
- p.Asp1488Asn Single submitter ⚠
- p.Asp1488His Single submitter ⚠
- p.Asp1546Gly Single submitter ⚠
- p.Asp1580Ala Single submitter ⚠
- p.Asp1593Asn Single submitter ⚠
- p.Asp1614Val Single submitter ⚠
- p.Asp286His Single submitter ⚠
- p.Asp423Tyr Single submitter ⚠
- p.Asp539Asn Single submitter ⚠
- p.Asp539Gly Single submitter ⚠
- p.Asp726Ala Single submitter ⚠
- p.Asp726Asn Single submitter ⚠
- p.Asp885Asn Single submitter ⚠
- p.Asp901Tyr Single submitter ⚠
- p.Cys1102Ter Single submitter
- p.Cys1272Arg Single submitter ⚠
- p.Cys217Phe Single submitter ⚠
- p.Cys617Arg Single submitter ⚠
- p.Cys736Ser Single submitter ⚠
- p.Gln1199Ter Single submitter
- p.Gln1444Arg Single submitter ⚠
- p.Gln1444His Single submitter ⚠
- p.Gln1456His Single submitter ⚠
- p.Gln1601Arg Single submitter ⚠
- p.Gln265Glu Single submitter ⚠
- p.Gln407Ter Single submitter
- p.Gln441Leu Single submitter ⚠
- p.Gln446Glu Single submitter ⚠
- p.Gln581Arg Single submitter ⚠
- p.Gln867Glu Single submitter ⚠
- p.Gln973Lys Single submitter ⚠
- p.Glu1067Val Single submitter ⚠
- p.Glu1172Ala Single submitter ⚠
- p.Glu11Gln Single submitter ⚠
- p.Glu1369Gln Single submitter ⚠
- p.Glu1369Lys Single submitter ⚠
- p.Glu1474Lys Single submitter ⚠
- p.Glu1506Lys Single submitter ⚠
- p.Glu1559Asp Single submitter ⚠
- p.Glu160Lys Single submitter ⚠
- p.Glu1623Lys Single submitter ⚠
- p.Glu1624Lys Single submitter ⚠
- p.Glu431Gln Single submitter ⚠
- p.Glu431Lys Single submitter ⚠
- p.Glu454Lys Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu577Ala Single submitter ⚠
- p.Gly234Val Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly280Arg Single submitter ⚠
- p.Gly359Glu Single submitter ⚠
- p.Gly375Arg Single submitter ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly601Arg Single submitter ⚠
- p.Gly869Val Single submitter ⚠
- p.Gly924Glu Single submitter ⚠
- p.His1021Tyr Single submitter ⚠
- p.His129Tyr Single submitter ⚠
- p.His155Pro Single submitter ⚠
- p.His229Arg Single submitter ⚠
- p.His309Gln Single submitter ⚠
- p.His309Tyr Single submitter ⚠
- p.His591Leu Single submitter ⚠
- p.His607Arg Single submitter ⚠
- p.His690Tyr Single submitter ⚠
- p.His728Gln Single submitter ⚠
- p.Ile1033Val Single submitter ⚠
- p.Ile1169Val Single submitter ⚠
- p.Ile1174Thr Single submitter ⚠
- p.Ile1190Val Single submitter ⚠
- p.Ile1276Val Single submitter ⚠
- p.Ile1484Met Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile194Leu Single submitter ⚠
- p.Ile25Thr Single submitter ⚠
- p.Ile316Thr Single submitter ⚠
- p.Ile38Leu Single submitter ⚠
- p.Ile38Val Single submitter ⚠
- p.Ile404Thr Single submitter ⚠
- p.Ile501Leu Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Ile776Val Single submitter ⚠
- p.Ile800Asn Single submitter ⚠
- p.Ile80Thr Single submitter ⚠
- p.Ile816Asn Single submitter ⚠
- p.Ile829Val Single submitter ⚠
- p.Ile833Met Single submitter ⚠
- p.Ile90Val Single submitter ⚠
- p.Leu1231Val Single submitter ⚠
- p.Leu1234Phe Single submitter ⚠
- p.Leu1299Val Single submitter ⚠
- p.Leu1309Gln Single submitter ⚠
- p.Leu1364Phe Single submitter ⚠
- p.Leu1527Arg Single submitter ⚠
- p.Leu1570Phe Single submitter ⚠
- p.Leu15Pro Single submitter ⚠
- p.Leu1607Pro Single submitter ⚠
- p.Leu414Phe Single submitter ⚠
- p.Leu862Arg Single submitter ⚠
- p.Leu862Pro Single submitter ⚠
- p.Lys1118Arg Single submitter ⚠
- p.Lys1162Arg Single submitter ⚠
- p.Lys1162Gln Single submitter ⚠
- p.Lys1326Ile Single submitter ⚠
- p.Lys1516Gln Single submitter ⚠
- p.Lys1552Asn Single submitter ⚠
- p.Lys362Arg Single submitter ⚠
- p.Lys445Met Single submitter ⚠
- p.Lys487Arg Single submitter ⚠
- p.Lys637Arg Single submitter ⚠
- p.Lys760Arg Single submitter ⚠
- p.Met1077Lys Single submitter ⚠
- p.Met1314Val Single submitter ⚠
- p.Met1379Lys Single submitter ⚠
- p.Met139Leu Single submitter ⚠
- p.Met1505Thr Single submitter ⚠
- p.Met1Val Single submitter CLTCL1-related disorder
- p.Met535Thr Single submitter ⚠
- p.Phe1266Leu Single submitter ⚠
- p.Phe142Ser Single submitter ⚠
- p.Phe1566Leu Single submitter ⚠
- p.Phe252Ser Single submitter ⚠
- p.Phe304Leu Single submitter ⚠
- p.Phe364Ser Single submitter ⚠
- p.Phe654Leu Single submitter ⚠
- p.Pro1105Ala Single submitter ⚠
- p.Pro1346Ser Single submitter ⚠
- p.Pro1450Ser Single submitter ⚠
- p.Pro253fs Single submitter
- p.Pro254Leu Single submitter ⚠
- p.Pro413Ser Single submitter ⚠
- p.Pro526Ala Single submitter ⚠
- p.Pro526Leu Single submitter ⚠
- p.Pro725Ser Single submitter ⚠
- p.Pro953Arg Single submitter ⚠
- p.Pro953Leu Single submitter ⚠
- p.Pro985Arg Single submitter ⚠
- p.Ser1127Phe Single submitter ⚠
- p.Ser1143Leu Single submitter ⚠
- p.Ser115Thr Single submitter ⚠
- p.Ser1222Phe Single submitter ⚠
- p.Ser289Pro Single submitter ⚠
- p.Ser28Arg Single submitter ⚠
- p.Ser28Asn Single submitter ⚠
- p.Ser376Gly Single submitter ⚠
- p.Ser403Arg Single submitter ⚠
- p.Ser432Cys Single submitter ⚠
- p.Ser704Thr Single submitter ⚠
- p.Ser707Arg Single submitter ⚠
- p.Ser70Gly Single submitter ⚠
- p.Ser70Thr Single submitter ⚠
- p.Ser751Gly Single submitter ⚠
- p.Ser889Gly Single submitter ⚠
- p.Ser902Gly Single submitter ⚠
- p.Thr1031Ser Single submitter ⚠
- p.Thr1252Met Single submitter ⚠
- p.Thr277Lys Single submitter ⚠
- p.Thr397Met Single submitter ⚠
- p.Thr469Asn Single submitter ⚠
- p.Thr51Met Single submitter ⚠
- p.Thr563Ile Single submitter ⚠
- p.Thr582Ala Single submitter ⚠
- p.Thr695Met Single submitter ⚠
- p.Thr738Arg Single submitter ⚠
- p.Thr842Ala Single submitter ⚠
- p.Tyr1043Cys Single submitter ⚠
- p.Tyr1050Cys Single submitter ⚠
- p.Tyr1096His Single submitter ⚠
- p.Tyr1128Cys Single submitter ⚠
- p.Tyr1206Ter Single submitter
- p.Tyr1411His Single submitter ⚠
- p.Tyr1477Cys Single submitter ⚠
- p.Tyr1513Cys Single submitter ⚠
- p.Tyr156Ser Single submitter ⚠
- p.Tyr281Cys Single submitter ⚠
- p.Tyr479Asp Single submitter ⚠
- p.Val119Ile Single submitter ⚠
- p.Val1241Ala Single submitter ⚠
- p.Val1401Ile Single submitter ⚠
- p.Val1448Leu Single submitter ⚠
- p.Val168Leu Single submitter ⚠
- p.Val262Leu Single submitter ⚠
- p.Val305Ile Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val335Leu Single submitter ⚠
- p.Val365Leu Single submitter ⚠
- p.Val484Met Single submitter ⚠
- p.Val488Ala Single submitter ⚠
- p.Val521Ile Single submitter ⚠
- p.Val727Ala Single submitter ⚠
- p.Val759Met Single submitter ⚠
- p.Val933Met Single submitter ⚠
- p.Val974Met Single submitter ⚠
- p.Glu801Asp No assertion criteria CLTCL1-related disorder ⚠