ERICH6B — 99 ClinVar variants

All ClinVar germline ERICH6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

16 Likely benign · 83 Uncertain significance

Full ERICH6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 49

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

Predictors split 37

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

All ERICH6B variants

Likely benign 16

p.Ala162= Single submitter
p.Ala511Val Single submitter
p.Ala648= Single submitter
p.Ala665Val Single submitter ⚠
p.Arg565His Single submitter
p.Arg652Gln Single submitter
p.Glu72= Single submitter
p.Glu96= Single submitter
p.Gly129Glu Single submitter ⚠
p.Ile674Thr Single submitter
p.Leu265Pro Single submitter
p.Leu68= Single submitter
p.Lys118= Single submitter
p.Pro305Ser Single submitter
p.Tyr218= Single submitter
p.Tyr73Asp Single submitter ⚠

Uncertain significance 83

p.Ala193Asp Single submitter ⚠
p.Ala285Thr Single submitter ⚠
p.Ala531Ser Single submitter ⚠
p.Ala580Val Single submitter ⚠
p.Ala665Thr Single submitter ⚠
p.Arg226Cys Single submitter ⚠
p.Arg226His Single submitter ⚠
p.Arg415Cys Single submitter ⚠
p.Arg415His Single submitter ⚠
p.Arg449Cys Single submitter ⚠
p.Arg459Gln Single submitter ⚠
p.Arg530Gln Single submitter ⚠
p.Arg599Ser Single submitter ⚠
p.Asn329Lys Single submitter ⚠
p.Asn400Ile Single submitter ⚠
p.Asn555Ser Single submitter ⚠
p.Asn6Ser Single submitter ⚠
p.Asp282Asn Single submitter ⚠
p.Asp492Gly Single submitter ⚠
p.Gln297Arg Single submitter ⚠
p.Gln315Pro Single submitter ⚠
p.Glu123Lys Single submitter ⚠
p.Glu165Gln Single submitter ⚠
p.Glu256Lys Single submitter ⚠
p.Glu30Lys Single submitter ⚠
p.Glu318Gly Single submitter ⚠
p.Glu366Gly Single submitter ⚠
p.Glu402Gln Single submitter ⚠
p.Glu41Lys Single submitter ⚠
p.Glu522Gln Single submitter ⚠
p.Glu526Lys Single submitter ⚠
p.Glu54Asp Single submitter ⚠
p.Glu633Lys Single submitter ⚠
p.Glu95Ala Single submitter ⚠
p.Gly333Asp Single submitter ⚠
p.Gly475Arg Single submitter ⚠
p.Gly53Arg Single submitter ⚠
p.Gly557Ser Single submitter ⚠
p.Gly620Ala Single submitter ⚠
p.His453Tyr Single submitter ⚠
p.Ile408Val Single submitter ⚠
p.Ile508Val Single submitter ⚠
p.Ile674Leu Single submitter ⚠
p.Leu122Arg Single submitter ⚠
p.Leu146Arg Single submitter ⚠
p.Leu146Gln Single submitter ⚠
p.Leu264Phe Single submitter ⚠
p.Leu352Ser Single submitter ⚠
p.Leu409Ser Single submitter ⚠
p.Leu670Met Single submitter ⚠
p.Leu8Phe Single submitter ⚠
p.Lys215Thr Single submitter ⚠
p.Lys302Glu Single submitter ⚠
p.Lys31Arg Single submitter ⚠
p.Lys327Asn Single submitter ⚠
p.Lys438Asn Single submitter ⚠
p.Met367Leu Single submitter ⚠
p.Met658Ile Single submitter ⚠
p.Phe324Leu Single submitter ⚠
p.Phe608Ser Single submitter ⚠
p.Phe673Val Single submitter ⚠
p.Pro245Thr Single submitter ⚠
p.Pro581His Single submitter ⚠
p.Ser275Arg Single submitter ⚠
p.Ser291Leu Single submitter ⚠
p.Ser354Cys Single submitter ⚠
p.Ser425Gly Single submitter ⚠
p.Ser425Ile Single submitter ⚠
p.Ser42Ile Single submitter ⚠
p.Thr24Ala Single submitter ⚠
p.Thr301Arg Single submitter ⚠
p.Thr301Met Single submitter ⚠
p.Thr435Ile Single submitter ⚠
p.Thr435Ser Single submitter ⚠
p.Tyr103Cys Single submitter ⚠
p.Tyr163Phe Single submitter ⚠
p.Tyr356Cys Single submitter ⚠
p.Tyr486Cys Single submitter ⚠
p.Tyr542Cys Single submitter ⚠
p.Tyr559Cys Single submitter ⚠
p.Tyr610Cys Single submitter ⚠
p.Val469Ala Single submitter ⚠
p.Val677Ile Single submitter ⚠