IQCH — 153 ClinVar variants

All ClinVar germline IQCH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

4 Benign · 20 Likely benign · 129 Uncertain significance

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

⚑ Evidence disagreements 128

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 114

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

Predictors split 14

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

All IQCH variants

Benign 4

p.Val305= Multiple submitters
c.1906-6T>G Single submitter
c.387+24827C>T Single submitter
p.Asn7= Single submitter

Likely benign 20

p.Arg185Lys Single submitter
p.Arg207His Single submitter
p.Arg219Gln Single submitter
p.Arg236Ser Single submitter
p.Arg242Lys Single submitter
p.Arg310Lys Single submitter
p.Arg907Lys Single submitter
p.Asn751Ser Single submitter
p.Asp750Glu Single submitter
p.Gly38Arg Single submitter
p.Ile130Val Single submitter
p.Ile593Val Single submitter
p.Lys1004Glu Single submitter
p.Met499Thr Single submitter
p.Pro747= Single submitter
p.Ser887Asn Single submitter
p.Thr211Ala Single submitter
p.Thr608= Single submitter
p.Tyr674His Single submitter
p.Val789Met Single submitter

Uncertain significance 129

p.Ala539Thr Single submitter ⚠
p.Ala588Thr Single submitter ⚠
p.Ala711Val Single submitter ⚠
p.Ala718Thr Single submitter ⚠
p.Ala718Val Single submitter ⚠
p.Ala809Gly Single submitter ⚠
p.Ala888Val Single submitter ⚠
p.Arg177Gln Single submitter ⚠
p.Arg207Cys Single submitter ⚠
p.Arg243Ser Single submitter ⚠
p.Arg393His Single submitter ⚠
p.Arg423His Single submitter ⚠
p.Arg431Cys Single submitter ⚠
p.Arg443His Single submitter ⚠
p.Arg563Ser Single submitter ⚠
p.Arg614Cys Single submitter ⚠
p.Arg614His Single submitter ⚠
p.Arg652His Single submitter ⚠
p.Arg662Leu Single submitter ⚠
p.Arg874Cys Single submitter ⚠
p.Arg874Leu Single submitter ⚠
p.Arg898His Single submitter ⚠
p.Arg969His Single submitter ⚠
p.Asn490His Single submitter ⚠
p.Asn4Ser Single submitter ⚠
p.Asn754His Single submitter ⚠
p.Asn764Ser Single submitter ⚠
p.Asn910Ser Single submitter ⚠
p.Asp204Val Single submitter ⚠
p.Asp21Val Single submitter ⚠
p.Asp274Gly Single submitter ⚠
p.Asp274Tyr Single submitter ⚠
p.Asp42Gly Single submitter ⚠
p.Asp469Asn Single submitter ⚠
p.Asp469Tyr Single submitter ⚠
p.Asp584Asn Single submitter ⚠
p.Asp774Asn Single submitter ⚠
p.Asp795Glu Single submitter ⚠
p.Asp828Ala Single submitter ⚠
p.Gln395Arg Single submitter ⚠
p.Glu428Gly Single submitter ⚠
p.Glu465Asp Single submitter ⚠
p.Glu502Lys Single submitter ⚠
p.Glu601Gly Single submitter ⚠
p.Glu638Gln Single submitter ⚠
p.Glu709Val Single submitter ⚠
p.Glu986Lys Single submitter ⚠
p.Gly239Glu Single submitter ⚠
p.Gly246Glu Single submitter ⚠
p.Gly740Ala Single submitter ⚠
p.Gly741Val Single submitter ⚠
p.Gly765Arg Single submitter ⚠
p.His151Gln Single submitter ⚠
p.His19Tyr Single submitter ⚠
p.His304Asp Single submitter ⚠
p.His426Gln Single submitter ⚠
p.His466Arg Single submitter ⚠
p.His60Arg Single submitter ⚠
p.His8Gln Single submitter ⚠
p.His945Gln Single submitter ⚠
p.His970Gln Single submitter ⚠
p.Ile175Met Single submitter ⚠
p.Ile314Thr Single submitter ⚠
p.Ile402Thr Single submitter
p.Ile452Thr Single submitter ⚠
p.Ile492Val Single submitter ⚠
p.Ile510Val Single submitter ⚠
p.Ile61Val Single submitter ⚠
p.Ile761Val Single submitter ⚠
p.Ile806Thr Single submitter ⚠
p.Ile821Met Single submitter ⚠
p.Ile973Val Single submitter ⚠
p.Ile978Thr Single submitter ⚠
p.Ile996Val Single submitter ⚠
p.Leu1022Ile Single submitter ⚠
p.Leu1022Pro Single submitter ⚠
p.Leu147Arg Single submitter ⚠
p.Leu163Ser Single submitter ⚠
p.Leu293Phe Single submitter ⚠
p.Leu337Arg Single submitter ⚠
p.Leu337Pro Single submitter ⚠
p.Leu481Pro Single submitter ⚠
p.Leu485Val Single submitter ⚠
p.Leu823Val Single submitter ⚠
p.Leu92Phe Single submitter ⚠
p.Lys137Arg Single submitter ⚠
p.Lys256Arg Single submitter ⚠
p.Lys37Glu Single submitter ⚠
p.Lys565Ile Single submitter ⚠
p.Lys613Arg Single submitter ⚠
p.Lys882Asn Single submitter ⚠
p.Met374Thr Single submitter ⚠
p.Met548Leu Single submitter ⚠
p.Met555Arg Single submitter ⚠
p.Met893Ile Single submitter ⚠
p.Phe284Ile Single submitter ⚠
p.Phe736Leu Single submitter ⚠
p.Phe819Cys Single submitter ⚠
p.Pro10Ser Single submitter ⚠
p.Pro123Ser Single submitter ⚠
p.Pro161Ser Single submitter ⚠
p.Pro258Leu Single submitter ⚠
p.Pro672Leu Single submitter ⚠
p.Pro873Thr Single submitter ⚠
p.Ser107Cys Single submitter ⚠
p.Ser133Leu Single submitter ⚠
p.Ser142Phe Single submitter ⚠
p.Ser202Asn Single submitter ⚠
p.Ser370Leu Single submitter ⚠
p.Ser526Arg Single submitter ⚠
p.Ser780Arg Single submitter ⚠
p.Ser909Arg Single submitter ⚠
p.Ser909Gly Single submitter ⚠
p.Thr280Ile Single submitter ⚠
p.Thr666Ile Single submitter ⚠
p.Thr728Met Single submitter ⚠
p.Trp380Cys Single submitter ⚠
p.Trp653Cys Single submitter ⚠
p.Tyr340Asp Single submitter ⚠
p.Tyr459Cys Single submitter ⚠
p.Tyr606Cys Single submitter ⚠
p.Val146Ala Single submitter ⚠
p.Val517Ile Single submitter ⚠
p.Val576Ile Single submitter ⚠
p.Val742Met Single submitter ⚠
p.Val769Met Single submitter ⚠
p.Val798Gly Single submitter ⚠
p.Val872Leu Single submitter ⚠
p.Val95Leu Single submitter ⚠