ASIC1 — 63 ClinVar variants
All ClinVar germline ASIC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
5 Benign · 2 Likely benign · 56 Uncertain significance
Full ASIC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASIC1 p.Ala480Val Uncertain significance Single submitter
- ASIC1 p.Ala519Thr Uncertain significance Single submitter
- ASIC1 p.Ala5Ser Uncertain significance Single submitter
- ASIC1 p.Arg166Gln Uncertain significance Single submitter
- ASIC1 p.Arg190Cys Uncertain significance Single submitter
- ASIC1 p.Arg204Gln Uncertain significance Single submitter
- ASIC1 p.Arg279Trp Uncertain significance Single submitter
- ASIC1 p.Arg326Cys Uncertain significance Single submitter
- ASIC1 p.Arg38Gln Uncertain significance Single submitter
- ASIC1 p.Arg477Lys Uncertain significance Single submitter
- ASIC1 p.Arg501Gln Uncertain significance Single submitter
- ASIC1 p.Asn119Ser Uncertain significance Single submitter
- ASIC1 p.Asp159Asn Uncertain significance Single submitter
- ASIC1 p.Asp259Asn Uncertain significance Single submitter
- ASIC1 p.Asp313Asn Uncertain significance Single submitter
- ASIC1 p.Asp434His Uncertain significance Single submitter
- ASIC1 p.Asp489Glu Uncertain significance Single submitter
- ASIC1 p.Cys471Trp Uncertain significance Single submitter
- ASIC1 p.Gln19Pro Uncertain significance Single submitter
- ASIC1 p.Glu113Gly Uncertain significance Single submitter
- ASIC1 p.Glu6Gln Uncertain significance Single submitter
- ASIC1 p.Glu6Lys Uncertain significance Single submitter
- ASIC1 p.Gly11Asp Uncertain significance Single submitter
- ASIC1 p.Gly483Val Uncertain significance Single submitter
- ASIC1 p.His110Pro Uncertain significance Single submitter
- ASIC1 p.Leu117Pro Uncertain significance Single submitter
- ASIC1 p.Lys470Asn Uncertain significance Single submitter
- ASIC1 p.Met295Thr Uncertain significance Single submitter
- ASIC1 p.Ser53Phe Uncertain significance Single submitter
- ASIC1 p.Thr214Met Uncertain significance Single submitter
- ASIC1 p.Trp233Ser Uncertain significance Single submitter
- ASIC1 p.Tyr389His Uncertain significance Single submitter
- ASIC1 p.Val13Phe Uncertain significance Single submitter
- ASIC1 p.Val491Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ASIC1 p.Arg175Trp Uncertain significance Single submitter
- ASIC1 p.Arg279Gln Uncertain significance Single submitter
- ASIC1 p.Asp489Asn Uncertain significance Single submitter
- ASIC1 p.Gln102Glu Uncertain significance Single submitter
- ASIC1 p.Glu136Gly Uncertain significance Single submitter
- ASIC1 p.Gly483Asp Uncertain significance Single submitter
- ASIC1 p.Gly506Arg Uncertain significance Single submitter
- ASIC1 p.Ile435Leu Uncertain significance Single submitter
- ASIC1 p.Lys464Asn Uncertain significance Single submitter
- ASIC1 p.Pro15Arg Uncertain significance Single submitter
- ASIC1 p.Pro515Ser Uncertain significance Single submitter
- ASIC1 p.Ser499Arg Uncertain significance Single submitter
- ASIC1 p.Thr196Met Uncertain significance Single submitter
- ASIC1 p.Thr214Lys Uncertain significance Single submitter
- ASIC1 p.Thr316Met Uncertain significance Single submitter
- ASIC1 p.Thr508Lys Uncertain significance Single submitter
- ASIC1 p.Thr522Met Uncertain significance Single submitter
- ASIC1 p.Val13Ile Uncertain significance Single submitter
All ASIC1 variants
Benign 5
- c.1206-9C>T Multiple submitters
- c.1297+37A>G Multiple submitters
- c.558+3G>A Multiple submitters
- p.Ile224= Multiple submitters
- p.Thr26= Multiple submitters
Likely benign 2
- c.1297+47C>T Single submitter
- c.1297+48G>A Single submitter
Uncertain significance 56
- c.1297+33T>C Single submitter
- c.1297+45G>A Single submitter
- c.1297+48G>T Single submitter
- c.363-2A>G Single submitter Seizure
- p.Ala480Val Single submitter ⚠
- p.Ala519Thr Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Arg166Gln Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg279Gln Single submitter ⚠
- p.Arg279Trp Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg477Lys Single submitter ⚠
- p.Arg501Gln Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Asp159Asn Single submitter ⚠
- p.Asp259Asn Single submitter ⚠
- p.Asp313Asn Single submitter ⚠
- p.Asp434His Single submitter ⚠
- p.Asp489Asn Single submitter ⚠
- p.Asp489Glu Single submitter ⚠
- p.Cys471Trp Single submitter ⚠
- p.Gln102Glu Single submitter ⚠
- p.Gln19Pro Single submitter ⚠
- p.Glu113Gly Single submitter ⚠
- p.Glu136Gly Single submitter ⚠
- p.Glu6Gln Single submitter ⚠
- p.Glu6Lys Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly483Asp Single submitter ⚠
- p.Gly483Val Single submitter ⚠
- p.Gly506Arg Single submitter ⚠
- p.His110Pro Single submitter ⚠
- p.Ile435Leu Single submitter ⚠
- p.Leu117Pro Single submitter ⚠
- p.Lys464Asn Single submitter ⚠
- p.Lys470Asn Single submitter ⚠
- p.Met295Thr Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro515Ser Single submitter ⚠
- p.Ser499Arg Single submitter ⚠
- p.Ser53Phe Single submitter ⚠
- p.Thr196Met Single submitter ⚠
- p.Thr214Lys Single submitter ⚠
- p.Thr214Met Single submitter ⚠
- p.Thr316Met Single submitter ⚠
- p.Thr508Lys Single submitter ⚠
- p.Thr522Met Single submitter ⚠
- p.Trp233Ser Single submitter ⚠
- p.Tyr389His Single submitter ⚠
- p.Val13Ile Single submitter ⚠
- p.Val13Phe Single submitter ⚠
- p.Val491Ile Single submitter ⚠