ASAP1 — 87 ClinVar variants
All ClinVar germline ASAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
2 Benign · 4 Likely benign · 81 Uncertain significance
Full ASAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASAP1 p.Ala1035Gly Uncertain significance Single submitter
- ASAP1 p.Ala429Val Uncertain significance Single submitter
- ASAP1 p.Ala914Gly Uncertain significance Single submitter
- ASAP1 p.Arg212His Uncertain significance Single submitter
- ASAP1 p.Arg447Gln Uncertain significance Single submitter
- ASAP1 p.Asn134Tyr Uncertain significance Single submitter
- ASAP1 p.Asn432Ser Uncertain significance Single submitter
- ASAP1 p.Asn52Asp Uncertain significance Single submitter
- ASAP1 p.Asp1046Asn Uncertain significance Single submitter
- ASAP1 p.Asp860Asn Uncertain significance Single submitter
- ASAP1 p.Cys53Phe Uncertain significance Single submitter
- ASAP1 p.Glu1090Lys Uncertain significance Single submitter
- ASAP1 p.Glu206Lys Uncertain significance Single submitter
- ASAP1 p.Glu401Lys Uncertain significance Single submitter
- ASAP1 p.Glu599Asp Uncertain significance Single submitter
- ASAP1 p.Gly352Glu Uncertain significance Single submitter
- ASAP1 p.Gly430Glu Uncertain significance Single submitter
- ASAP1 p.Gly818Ser Uncertain significance Single submitter
- ASAP1 p.His245Arg Uncertain significance Single submitter
- ASAP1 p.His550Arg Uncertain significance Single submitter
- ASAP1 p.His642Arg Uncertain significance Single submitter
- ASAP1 p.Ile1109Val Uncertain significance Single submitter
- ASAP1 p.Ile241Thr Uncertain significance Single submitter
- ASAP1 p.Ile293Val Uncertain significance Single submitter
- ASAP1 p.Ile745Val Uncertain significance Single submitter
- ASAP1 p.Leu124Val Uncertain significance Single submitter
- ASAP1 p.Leu811Ile Uncertain significance Single submitter
- ASAP1 p.Lys572Arg Uncertain significance Single submitter
- ASAP1 p.Lys750Arg Uncertain significance Single submitter
- ASAP1 p.Pro1023Leu Uncertain significance Single submitter
- ASAP1 p.Ser1032Ala Uncertain significance Single submitter
- ASAP1 p.Ser433Asn Uncertain significance Single submitter
- ASAP1 p.Thr1064Met Uncertain significance Single submitter
- ASAP1 p.Thr196Ala Uncertain significance Single submitter
- ASAP1 p.Thr360Ile Uncertain significance Single submitter
- ASAP1 p.Thr683Ser Uncertain significance Single submitter
- ASAP1 p.Thr803Pro Uncertain significance Single submitter
- ASAP1 p.Trp464Leu Uncertain significance Single submitter
- ASAP1 p.Tyr173Phe Uncertain significance Single submitter
- ASAP1 p.Val1124Ala Uncertain significance Single submitter
- ASAP1 p.Val776Ile Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ASAP1 p.Arg764Gln Uncertain significance Single submitter
- ASAP1 p.Asn391Ser Uncertain significance Single submitter
- ASAP1 p.Asp113Asn Uncertain significance Single submitter
- ASAP1 p.Asp535Asn Uncertain significance Single submitter
- ASAP1 p.Asp675Tyr Uncertain significance Single submitter
- ASAP1 p.Asp860Tyr Uncertain significance Single submitter
- ASAP1 p.Cys627Arg Uncertain significance Single submitter
- ASAP1 p.Gln581Lys Uncertain significance Single submitter
- ASAP1 p.Gln684Pro Uncertain significance Single submitter
- ASAP1 p.Gly628Glu Uncertain significance Single submitter
- ASAP1 p.Gly833Arg Uncertain significance Single submitter
- ASAP1 p.His1022Tyr Uncertain significance Single submitter
- ASAP1 p.His700Gln Uncertain significance Single submitter
- ASAP1 p.Ile665Val Likely benign Single submitter
- ASAP1 p.Leu617Ile Uncertain significance Single submitter
- ASAP1 p.Lys168Arg Uncertain significance Single submitter
- ASAP1 p.Lys209Arg Uncertain significance Single submitter
- ASAP1 p.Lys260Glu Uncertain significance Single submitter
- ASAP1 p.Lys632Glu Uncertain significance Single submitter
- ASAP1 p.Lys933Glu Uncertain significance Single submitter
- ASAP1 p.Phe873Leu Uncertain significance Single submitter
- ASAP1 p.Pro734Arg Uncertain significance Single submitter
- ASAP1 p.Pro810Leu Uncertain significance Single submitter
- ASAP1 p.Pro830Arg Uncertain significance Single submitter
- ASAP1 p.Pro895Ala Uncertain significance Single submitter
- ASAP1 p.Pro956Leu Uncertain significance Single submitter
- ASAP1 p.Pro982Ser Uncertain significance Single submitter
- ASAP1 p.Pro990Ala Uncertain significance Single submitter
- ASAP1 p.Pro991Ser Uncertain significance Single submitter
- ASAP1 p.Ser313Asn Uncertain significance Single submitter
- ASAP1 p.Ser746Phe Uncertain significance Single submitter
- ASAP1 p.Ser777Phe Uncertain significance Single submitter
- ASAP1 p.Ser785Leu Uncertain significance Single submitter
- ASAP1 p.Thr178Ile Uncertain significance Single submitter
- ASAP1 p.Thr559Ala Uncertain significance Single submitter
- ASAP1 p.Thr788Met Uncertain significance Single submitter
- ASAP1 p.Tyr583Cys Uncertain significance Single submitter
- ASAP1 p.Val1069Ala Uncertain significance Single submitter
- ASAP1 p.Val1096Ile Uncertain significance Single submitter
- ASAP1 p.Val609Ile Uncertain significance Single submitter
- ASAP1 p.Val620Ile Uncertain significance Single submitter
All ASAP1 variants
Benign 2
- p.Gln263= Multiple submitters
- c.1169-8dup Single submitter
Likely benign 4
- p.Asp938= Single submitter
- p.Ile665Val Single submitter ⚠
- p.Thr1054= Single submitter
- p.Thr788Ala Single submitter
Uncertain significance 81
- p.Ala1035Gly Single submitter ⚠
- p.Ala429Val Single submitter ⚠
- p.Ala914Gly Single submitter ⚠
- p.Arg212His Single submitter ⚠
- p.Arg447Gln Single submitter ⚠
- p.Arg764Gln Single submitter ⚠
- p.Asn134Tyr Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Asn432Ser Single submitter ⚠
- p.Asn52Asp Single submitter ⚠
- p.Asp1046Asn Single submitter ⚠
- p.Asp113Asn Single submitter ⚠
- p.Asp535Asn Single submitter ⚠
- p.Asp675Tyr Single submitter ⚠
- p.Asp860Asn Single submitter ⚠
- p.Asp860Tyr Single submitter ⚠
- p.Cys53Phe Single submitter ⚠
- p.Cys627Arg Single submitter ⚠
- p.Gln581Lys Single submitter ⚠
- p.Gln684Pro Single submitter ⚠
- p.Glu1090Lys Single submitter ⚠
- p.Glu206Lys Single submitter ⚠
- p.Glu401Lys Single submitter ⚠
- p.Glu599Asp Single submitter ⚠
- p.Gly352Glu Single submitter ⚠
- p.Gly430Glu Single submitter ⚠
- p.Gly628Glu Single submitter ⚠
- p.Gly818Ser Single submitter ⚠
- p.Gly833Arg Single submitter ⚠
- p.His1022Tyr Single submitter ⚠
- p.His245Arg Single submitter ⚠
- p.His550Arg Single submitter ⚠
- p.His642Arg Single submitter ⚠
- p.His700Gln Single submitter ⚠
- p.Ile1109Val Single submitter ⚠
- p.Ile241Thr Single submitter ⚠
- p.Ile293Val Single submitter ⚠
- p.Ile745Val Single submitter ⚠
- p.Leu124Val Single submitter ⚠
- p.Leu617Ile Single submitter ⚠
- p.Leu811Ile Single submitter ⚠
- p.Lys168Arg Single submitter ⚠
- p.Lys209Arg Single submitter ⚠
- p.Lys260Glu Single submitter ⚠
- p.Lys572Arg Single submitter ⚠
- p.Lys632Glu Single submitter ⚠
- p.Lys750Arg Single submitter ⚠
- p.Lys933Glu Single submitter ⚠
- p.Phe873Leu Single submitter ⚠
- p.Pro1023Leu Single submitter ⚠
- p.Pro734Arg Single submitter ⚠
- p.Pro810Leu Single submitter ⚠
- p.Pro830Arg Single submitter ⚠
- p.Pro895Ala Single submitter ⚠
- p.Pro956Leu Single submitter ⚠
- p.Pro982Ser Single submitter ⚠
- p.Pro990Ala Single submitter ⚠
- p.Pro991Ser Single submitter ⚠
- p.Ser1032Ala Single submitter ⚠
- p.Ser313Asn Single submitter ⚠
- p.Ser433Asn Single submitter ⚠
- p.Ser746Phe Single submitter ⚠
- p.Ser777Phe Single submitter ⚠
- p.Ser785Leu Single submitter ⚠
- p.Thr1064Met Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr196Ala Single submitter ⚠
- p.Thr360Ile Single submitter ⚠
- p.Thr559Ala Single submitter ⚠
- p.Thr683Ser Single submitter ⚠
- p.Thr788Met Single submitter ⚠
- p.Thr803Pro Single submitter ⚠
- p.Trp464Leu Single submitter ⚠
- p.Tyr173Phe Single submitter ⚠
- p.Tyr583Cys Single submitter ⚠
- p.Val1069Ala Single submitter ⚠
- p.Val1096Ile Single submitter ⚠
- p.Val1124Ala Single submitter ⚠
- p.Val609Ile Single submitter ⚠
- p.Val620Ile Single submitter ⚠
- p.Val776Ile Single submitter ⚠