APAF1 — 152 ClinVar variants
All ClinVar germline APAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
12 Benign · 17 Likely benign · 123 Uncertain significance
Full APAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APAF1 p.Ala1025Val Uncertain significance Single submitter
- APAF1 p.Ala304Thr Uncertain significance Single submitter
- APAF1 p.Ala584Asp Uncertain significance Single submitter
- APAF1 p.Ala984Val Uncertain significance Single submitter
- APAF1 p.Arg233His Uncertain significance Single submitter
- APAF1 p.Arg337Cys Uncertain significance Single submitter
- APAF1 p.Arg608Cys Uncertain significance Single submitter
-
APAF1 p.Arg750Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- APAF1 p.Asn747Ser Uncertain significance Single submitter
- APAF1 p.Asn993Ser Uncertain significance Single submitter
- APAF1 p.Asp385Asn Uncertain significance Single submitter
- APAF1 p.Asp589Asn Uncertain significance Single submitter
- APAF1 p.Asp902Asn Uncertain significance Single submitter
- APAF1 p.Cys258Ser Uncertain significance Single submitter
- APAF1 p.Cys663Arg Uncertain significance Single submitter
- APAF1 p.Gln208Leu Uncertain significance Single submitter
- APAF1 p.Gln586Arg Uncertain significance Single submitter
- APAF1 p.Glu339Asp Uncertain significance Single submitter
- APAF1 p.Glu734Lys Uncertain significance Single submitter
-
APAF1 p.Glu795Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- APAF1 p.Gly1128Ser Uncertain significance Single submitter
- APAF1 p.Gly894Glu Uncertain significance Single submitter
- APAF1 p.His438Arg Uncertain significance Single submitter
- APAF1 p.His521Tyr Uncertain significance Single submitter
- APAF1 p.Ile327Val Uncertain significance Single submitter
- APAF1 p.Ile370Val Uncertain significance Single submitter
- APAF1 p.Ile532Lys Uncertain significance Single submitter
- APAF1 p.Ile532Val Uncertain significance Single submitter
- APAF1 p.Ile906Val Uncertain significance Single submitter
- APAF1 p.Ile91Leu Uncertain significance Single submitter
- APAF1 p.Ile91Val Uncertain significance Single submitter
- APAF1 p.Ile956Thr Uncertain significance Single submitter
- APAF1 p.Ile987Val Uncertain significance Single submitter
- APAF1 p.Leu218Val Uncertain significance Single submitter
- APAF1 p.Lys100Arg Uncertain significance Single submitter
- APAF1 p.Lys234Arg Uncertain significance Single submitter
- APAF1 p.Lys511Arg Uncertain significance Single submitter
- APAF1 p.Lys654Met Uncertain significance Single submitter
- APAF1 p.Met301Lys Uncertain significance Single submitter
- APAF1 p.Met368Val Uncertain significance Single submitter
- APAF1 p.Met374Val Uncertain significance Single submitter
- APAF1 p.Met797Val Uncertain significance Single submitter
- APAF1 p.Met921Lys Uncertain significance Single submitter
- APAF1 p.Pro147Thr Uncertain significance Single submitter
- APAF1 p.Pro475Leu Uncertain significance Single submitter
- APAF1 p.Pro47Ser Uncertain significance Single submitter
- APAF1 p.Ser1139Gly Uncertain significance Single submitter
- APAF1 p.Ser256Gly Uncertain significance Single submitter
- APAF1 p.Ser493Asn Uncertain significance Single submitter
- APAF1 p.Thr112Ala Uncertain significance Single submitter
- APAF1 p.Thr1218Ile Uncertain significance Single submitter
- APAF1 p.Thr615Arg Uncertain significance Single submitter
- APAF1 p.Trp249Ser Uncertain significance Single submitter
- APAF1 p.Tyr467Asp Uncertain significance Single submitter
- APAF1 p.Val1069Leu Uncertain significance Single submitter
- APAF1 p.Val1204Ile Uncertain significance Single submitter
- APAF1 p.Val280Ile Uncertain significance Single submitter
- APAF1 p.Val692Leu Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
- APAF1 p.Ser871Leu Likely benign Multiple submitters
- APAF1 p.Ala223Ser Uncertain significance Single submitter
- APAF1 p.Ala584Thr Uncertain significance Single submitter
- APAF1 p.Ala772Gly Uncertain significance Single submitter
- APAF1 p.Arg13Gly Uncertain significance Single submitter
- APAF1 p.Arg205Trp Uncertain significance Single submitter
- APAF1 p.Arg226Cys Uncertain significance Single submitter
- APAF1 p.Arg945His Uncertain significance Single submitter
- APAF1 p.Arg945Leu Uncertain significance Single submitter
- APAF1 p.Asn449Thr Uncertain significance Single submitter
- APAF1 p.Asn703Ser Uncertain significance Single submitter
- APAF1 p.Asn737Thr Uncertain significance Single submitter
- APAF1 p.Asn782Thr Benign Single submitter
- APAF1 p.Asp1014Asn Uncertain significance Single submitter
- APAF1 p.Asp1096Asn Uncertain significance Single submitter
- APAF1 p.Asp365Glu Uncertain significance Single submitter
- APAF1 p.Asp365Gly Uncertain significance Single submitter
- APAF1 p.Asp668Asn Uncertain significance Single submitter
- APAF1 p.Asp771Asn Uncertain significance Single submitter
- APAF1 p.Cys1132Phe Uncertain significance Single submitter
- APAF1 p.Cys803Gly Uncertain significance Single submitter
- APAF1 p.Cys878Tyr Uncertain significance Single submitter
- APAF1 p.Cys966Arg Uncertain significance Single submitter
- APAF1 p.Gln190Pro Uncertain significance Single submitter
- APAF1 p.Gln454Arg Uncertain significance Single submitter
- APAF1 p.Gln931His Uncertain significance Single submitter
- APAF1 p.Glu339Ala Uncertain significance Single submitter
- APAF1 p.Glu39Ala Uncertain significance Single submitter
- APAF1 p.Glu478Val Uncertain significance Single submitter
- APAF1 p.Glu734Gly Uncertain significance Single submitter
- APAF1 p.Glu777Lys Benign Single submitter
- APAF1 p.Glu910Lys Uncertain significance Single submitter
- APAF1 p.Glu981Gly Uncertain significance Single submitter
- APAF1 p.Gly1189Asp Uncertain significance Single submitter
- APAF1 p.Gly145Val Uncertain significance Single submitter
- APAF1 p.Gly180Arg Uncertain significance Single submitter
- APAF1 p.Gly833Ala Likely benign Single submitter
- APAF1 p.Gly954Val Uncertain significance Single submitter
- APAF1 p.His1163Tyr Uncertain significance Single submitter
- APAF1 p.His836Tyr Uncertain significance Single submitter
- APAF1 p.Ile1151Phe Uncertain significance Single submitter
- APAF1 p.Ile20Val Uncertain significance Single submitter
- APAF1 p.Ile60Thr Uncertain significance Single submitter
- APAF1 p.Ile672Val Uncertain significance Single submitter
- APAF1 p.Ile949Val Uncertain significance Single submitter
- APAF1 p.Leu1116Pro Likely benign Single submitter
- APAF1 p.Leu969Val Uncertain significance Single submitter
- APAF1 p.Lys1003Glu Uncertain significance Single submitter
- APAF1 p.Lys1016Asn Uncertain significance Single submitter
- APAF1 p.Lys351Gln Uncertain significance Single submitter
- APAF1 p.Lys63Asn Uncertain significance Single submitter
- APAF1 p.Met29Val Uncertain significance Single submitter
- APAF1 p.Phe464Ser Uncertain significance Single submitter
- APAF1 p.Pro571Leu Uncertain significance Single submitter
- APAF1 p.Pro92Ser Uncertain significance Single submitter
- APAF1 p.Ser1021Gly Uncertain significance Single submitter
- APAF1 p.Ser1060Thr Uncertain significance Single submitter
- APAF1 p.Ser31Thr Uncertain significance Single submitter
- APAF1 p.Ser96Phe Uncertain significance Single submitter
- APAF1 p.Ser98Asn Likely benign Single submitter
- APAF1 p.Thr1140Ile Uncertain significance Single submitter
- APAF1 p.Thr1144Ala Uncertain significance Single submitter
- APAF1 p.Thr743Ile Uncertain significance Single submitter
- APAF1 p.Thr828Ile Uncertain significance Single submitter
- APAF1 p.Tyr489Cys Uncertain significance Single submitter
- APAF1 p.Val323Ile Uncertain significance Single submitter
- APAF1 p.Val815Gly Uncertain significance Single submitter
- APAF1 p.Val928Ile Uncertain significance Single submitter
All APAF1 variants
Benign 12
- c.2047-3T>C Multiple submitters
- p.Glu625Ala Multiple submitters
- p.Thr446Ser Multiple submitters
- p.Tyr359= Multiple submitters
- p.Ala1025Asp Single submitter
- p.Asn782Thr Single submitter ⚠
- p.Glu777Lys Single submitter ⚠
- c.3205-5_3205-4del No assertion criteria APAF1-related disorder
- c.*3T>C No assertion criteria APAF1-related disorder
- p.Ala984= No assertion criteria APAF1-related disorder
- p.Ile1038Val No assertion criteria APAF1-related disorder
- p.Ser807= No assertion criteria APAF1-related disorder
Likely benign 17
- p.Ser871Leu Multiple submitters ⚠
- p.Arg812= Single submitter
- p.Gly833Ala Single submitter ⚠
- p.Leu1116Pro Single submitter ⚠
- p.Leu375= Single submitter
- p.Met687Val Single submitter
- p.Pro470Leu Single submitter
- p.Ser98Asn Single submitter ⚠
- p.Val69Ile Single submitter
- c.3457-7T>C No assertion criteria APAF1-related disorder
- c.527-10C>T No assertion criteria APAF1-related disorder
- c.956-4A>T No assertion criteria APAF1-related disorder
- p.Ala304= No assertion criteria APAF1-related disorder
- p.Gln416= No assertion criteria APAF1-related disorder
- p.Ile821= No assertion criteria APAF1-related disorder
- p.Lys916= No assertion criteria APAF1-related disorder
- p.Thr674= No assertion criteria APAF1-related disorder
Uncertain significance 123
- p.Ala1025Val Single submitter ⚠
- p.Ala223Ser Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala584Asp Single submitter ⚠
- p.Ala584Thr Single submitter ⚠
- p.Ala772Gly Single submitter ⚠
- p.Ala984Val Single submitter ⚠
- p.Arg13Gly Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Arg233His Single submitter ⚠
- p.Arg337Cys Single submitter ⚠
- p.Arg608Cys Single submitter ⚠
- p.Arg750Lys Single submitter Inborn genetic diseases ⚠
- p.Arg945His Single submitter ⚠
- p.Arg945Leu Single submitter ⚠
- p.Asn449Thr Single submitter ⚠
- p.Asn602fs Single submitter
- p.Asn703Ser Single submitter ⚠
- p.Asn737Thr Single submitter ⚠
- p.Asn747Ser Single submitter ⚠
- p.Asn993Ser Single submitter ⚠
- p.Asp1014Asn Single submitter ⚠
- p.Asp1096Asn Single submitter ⚠
- p.Asp365Glu Single submitter ⚠
- p.Asp365Gly Single submitter ⚠
- p.Asp385Asn Single submitter ⚠
- p.Asp589Asn Single submitter ⚠
- p.Asp668Asn Single submitter ⚠
- p.Asp771Asn Single submitter ⚠
- p.Asp902Asn Single submitter ⚠
- p.Cys1132Phe Single submitter ⚠
- p.Cys258Ser Single submitter ⚠
- p.Cys317_Lys318delinsTer Single submitter APAF1-related disorder
- p.Cys663Arg Single submitter ⚠
- p.Cys803Gly Single submitter ⚠
- p.Cys878Tyr Single submitter ⚠
- p.Cys966Arg Single submitter ⚠
- p.Gln190Pro Single submitter ⚠
- p.Gln208Leu Single submitter ⚠
- p.Gln454Arg Single submitter ⚠
- p.Gln586Arg Single submitter ⚠
- p.Gln931His Single submitter ⚠
- p.Glu339Ala Single submitter ⚠
- p.Glu339Asp Single submitter ⚠
- p.Glu39Ala Single submitter ⚠
- p.Glu478Val Single submitter ⚠
- p.Glu734Gly Single submitter ⚠
- p.Glu734Lys Single submitter ⚠
- p.Glu795Gln Single submitter Inborn genetic diseases ⚠
- p.Glu910Lys Single submitter ⚠
- p.Glu981Gly Single submitter ⚠
- p.Gly1128Ser Single submitter ⚠
- p.Gly1189Asp Single submitter ⚠
- p.Gly145Val Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.Gly894Glu Single submitter ⚠
- p.Gly954Val Single submitter ⚠
- p.His1163Tyr Single submitter ⚠
- p.His438Arg Single submitter ⚠
- p.His521Tyr Single submitter ⚠
- p.His836Tyr Single submitter ⚠
- p.Ile1151Phe Single submitter ⚠
- p.Ile20Val Single submitter ⚠
- p.Ile327Val Single submitter ⚠
- p.Ile370Val Single submitter ⚠
- p.Ile532Lys Single submitter ⚠
- p.Ile532Val Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Ile672Val Single submitter ⚠
- p.Ile906Val Single submitter ⚠
- p.Ile91Leu Single submitter ⚠
- p.Ile91Val Single submitter ⚠
- p.Ile949Val Single submitter ⚠
- p.Ile956Thr Single submitter ⚠
- p.Ile987Val Single submitter ⚠
- p.Leu218Val Single submitter ⚠
- p.Leu35fs Single submitter neural tube defect
- p.Leu969Val Single submitter ⚠
- p.Lys1003Glu Single submitter ⚠
- p.Lys100Arg Single submitter ⚠
- p.Lys1016Asn Single submitter ⚠
- p.Lys234Arg Single submitter ⚠
- p.Lys351Gln Single submitter ⚠
- p.Lys511Arg Single submitter ⚠
- p.Lys63Asn Single submitter ⚠
- p.Lys654Met Single submitter ⚠
- p.Met29Val Single submitter ⚠
- p.Met301Lys Single submitter ⚠
- p.Met368Val Single submitter ⚠
- p.Met374Val Single submitter ⚠
- p.Met797Val Single submitter ⚠
- p.Met921Lys Single submitter ⚠
- p.Phe464Ser Single submitter ⚠
- p.Pro147Thr Single submitter ⚠
- p.Pro475Leu Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro571Leu Single submitter ⚠
- p.Pro92Ser Single submitter ⚠
- p.Ser1021Gly Single submitter ⚠
- p.Ser1060Thr Single submitter ⚠
- p.Ser1139Gly Single submitter ⚠
- p.Ser256Gly Single submitter ⚠
- p.Ser31Thr Single submitter ⚠
- p.Ser493Asn Single submitter ⚠
- p.Ser96Phe Single submitter ⚠
- p.Thr112Ala Single submitter ⚠
- p.Thr1140Ile Single submitter ⚠
- p.Thr1144Ala Single submitter ⚠
- p.Thr1218Ile Single submitter ⚠
- p.Thr615Arg Single submitter ⚠
- p.Thr743Ile Single submitter ⚠
- p.Thr828Ile Single submitter ⚠
- p.Trp249Ser Single submitter ⚠
- p.Tyr467Asp Single submitter ⚠
- p.Tyr489Cys Single submitter ⚠
- p.Val1069Leu Single submitter ⚠
- p.Val1204Ile Single submitter ⚠
- p.Val280Ile Single submitter ⚠
- p.Val323Ile Single submitter ⚠
- p.Val692Leu Single submitter ⚠
- p.Val815Gly Single submitter ⚠
- p.Val928Ile Single submitter ⚠