GRIK1 — 151 ClinVar variants

All ClinVar germline GRIK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

5 Benign · 11 Likely benign · 135 Uncertain significance

Full GRIK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 100

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

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

All GRIK1 variants

Benign 5

c.2607+1349C>T Multiple submitters
p.Ala304= Multiple submitters
p.Gly855= Multiple submitters
p.Leu183= Multiple submitters
c.1251+3T>A Single submitter

Likely benign 11

p.Ala699= Single submitter
p.Asn428= Single submitter
p.Asp387= Single submitter
p.Gly4Arg Single submitter
p.Leu469= Single submitter
p.Leu574= Single submitter
p.Lys694= Single submitter
p.Pro138= Single submitter
p.Pro308= Single submitter
p.Thr667= Single submitter
p.Tyr329= Single submitter

Uncertain significance 135

c.2607+1348G>T Single submitter ⚠
c.2607+1355G>T Single submitter ⚠
c.2607+1357T>C Single submitter ⚠
c.2607+1366G>A Single submitter ⚠
c.2607+1437T>G Single submitter ⚠
c.2607+1478C>G Single submitter ⚠
p.Ala106Val Single submitter ⚠
p.Ala192Ser Single submitter ⚠
p.Ala236Val Single submitter
p.Ala264Thr Single submitter ⚠
p.Ala304Asp Single submitter ⚠
p.Ala304Thr Single submitter ⚠
p.Ala327Asp Single submitter ⚠
p.Ala33Thr Single submitter ⚠
p.Ala33Val Single submitter ⚠
p.Ala645Gly Single submitter ⚠
p.Ala699Thr Single submitter ⚠
p.Ala827Val Single submitter
p.Ala829Thr Single submitter ⚠
p.Ala904Val Single submitter
p.Ala949Glu Single submitter
p.Arg134His Single submitter ⚠
p.Arg15Gly Single submitter ⚠
p.Arg15Trp Single submitter ⚠
p.Arg185His Single submitter ⚠
p.Arg203His Single submitter
p.Arg337Trp Single submitter ⚠
p.Arg355Cys Single submitter ⚠
p.Arg355Ser Single submitter ⚠
p.Arg368Trp Single submitter ⚠
p.Arg474Gly Single submitter ⚠
p.Arg69Leu Single submitter ⚠
p.Arg69Pro Single submitter ⚠
p.Arg763Ser Single submitter ⚠
p.Arg815Cys Single submitter ⚠
p.Arg941Gln Single submitter
p.Arg941Leu Single submitter
p.Asn142Lys Single submitter ⚠
p.Asn439His Single submitter ⚠
p.Asn514Ser Single submitter ⚠
p.Asn561Asp Single submitter ⚠
p.Asn561Ser Single submitter ⚠
p.Asn564Tyr Single submitter ⚠
p.Asp179Glu Single submitter ⚠
p.Asp326Asn Single submitter ⚠
p.Asp442Glu Single submitter ⚠
p.Asp702Glu Single submitter ⚠
p.Gln507His Single submitter ⚠
p.Gln762Arg Single submitter ⚠
p.Gln9His Single submitter ⚠
p.Glu188Lys Single submitter ⚠
p.Glu224Asp Single submitter ⚠
p.Glu251Lys Single submitter ⚠
p.Glu309Lys Single submitter ⚠
p.Glu366Lys Single submitter ⚠
p.Glu406Lys Single submitter ⚠
p.Glu49Val Single submitter ⚠
p.Glu677Gln Single submitter
p.Glu821Lys Single submitter ⚠
p.Gly653Glu Single submitter ⚠
p.Gly698Arg Single submitter ⚠
p.Gly780Arg Single submitter ⚠
p.Gly804Glu Single submitter ⚠
p.His351Asn Single submitter ⚠
p.Ile161Ser Single submitter ⚠
p.Ile239Val Single submitter ⚠
p.Ile243Phe Single submitter
p.Ile418Val Single submitter ⚠
p.Ile440Val Single submitter ⚠
p.Ile450Thr Single submitter ⚠
p.Ile534Thr Single submitter ⚠
p.Ile578Val Single submitter ⚠
p.Ile785Phe Single submitter ⚠
p.Ile840Met Single submitter ⚠
p.Ile840Val Single submitter ⚠
p.Ile854Thr Single submitter ⚠
p.Leu102Val Single submitter
p.Leu145Val Single submitter ⚠
p.Leu166Phe Single submitter ⚠
p.Leu22Phe Single submitter ⚠
p.Leu384Phe Single submitter ⚠
p.Leu571His Single submitter ⚠
p.Leu571Phe Single submitter ⚠
p.Leu71Val Single submitter ⚠
p.Leu751Pro Single submitter ⚠
p.Leu7Pro Single submitter ⚠
p.Lys386Glu Single submitter ⚠
p.Lys825Ile Single submitter ⚠
p.Lys863Arg Single submitter ⚠
p.Lys926Arg Single submitter
p.Lys928Arg Single submitter
p.Met246Thr Single submitter
p.Met248Thr Single submitter ⚠
p.Met461Thr Single submitter ⚠
p.Met635Ile Single submitter ⚠
p.Met724Ile Single submitter ⚠
p.Met724Thr Single submitter ⚠
p.Phe225Ile Single submitter ⚠
p.Phe263Leu Single submitter ⚠
p.Phe492Ile Single submitter ⚠
p.Pro288Thr Single submitter ⚠
p.Pro547His Single submitter ⚠
p.Pro609Gln Single submitter ⚠
p.Ser115Cys Single submitter ⚠
p.Ser18Arg Single submitter ⚠
p.Ser207Phe Single submitter ⚠
p.Ser335Leu Single submitter ⚠
p.Ser339Pro Single submitter ⚠
p.Ser394Arg Single submitter ⚠
p.Ser425Asn Single submitter ⚠
p.Ser425Gly Single submitter ⚠
p.Ser681Phe Single submitter
p.Ser685Leu Single submitter ⚠
p.Thr17Ile Single submitter ⚠
p.Thr235Ser Single submitter ⚠
p.Thr400Ile Single submitter ⚠
p.Thr430Met Single submitter ⚠
p.Thr600Ile Single submitter ⚠
p.Thr667Lys Single submitter ⚠
p.Thr705Ile Single submitter ⚠
p.Thr755Ile Single submitter ⚠
p.Thr76Ala Single submitter ⚠
p.Trp579Arg Single submitter ⚠
p.Trp656Arg Single submitter ⚠
p.Trp721Arg Single submitter ⚠
p.Tyr270Cys Single submitter ⚠
p.Tyr325His Single submitter ⚠
p.Tyr581His Single submitter ⚠
p.Val116Ile Single submitter ⚠
p.Val290Met Single submitter ⚠
p.Val407Leu Single submitter ⚠
p.Val592Ala Single submitter ⚠
p.Val616Ala Single submitter ⚠
p.Val651Phe Single submitter ⚠
p.Val850Ala Single submitter ⚠