FAM222B — 80 ClinVar variants

All ClinVar germline FAM222B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

1 Conflicting · 3 Benign · 3 Likely benign · 73 Uncertain significance

Full FAM222B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

FAM222B p.Arg527Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 56

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

Predictors split 16

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

All FAM222B variants

Conflicting classifications of pathogenicity 1

p.Arg527Gln Single submitter ⚠

Benign 3

p.Gly542Ser Multiple submitters
p.Pro546= Multiple submitters
p.Met327Val Single submitter

Likely benign 3

p.Ala472Thr Single submitter
p.Asn543Ser Single submitter
p.Glu550Asp Single submitter

Uncertain significance 73

p.Ala109Gly Single submitter ⚠
p.Ala145Pro Single submitter ⚠
p.Ala255Thr Single submitter ⚠
p.Ala332Val Single submitter ⚠
p.Ala335Thr Single submitter ⚠
p.Ala336Val Single submitter ⚠
p.Ala393Val Single submitter ⚠
p.Ala3Thr Single submitter ⚠
p.Ala417Val Single submitter ⚠
p.Ala483Val Single submitter ⚠
p.Ala488Gly Single submitter ⚠
p.Ala532Pro Single submitter ⚠
p.Arg120Gln Single submitter ⚠
p.Arg300His Single submitter ⚠
p.Arg309Gln Single submitter ⚠
p.Arg309Trp Single submitter ⚠
p.Arg396Cys Single submitter ⚠
p.Arg396His Single submitter ⚠
p.Arg527Pro Single submitter
p.Arg71Trp Single submitter ⚠
p.Asn224Ser Single submitter ⚠
p.Asn446Ser Single submitter ⚠
p.Asn508Ser Single submitter ⚠
p.Asp117Asn Single submitter ⚠
p.Asp359Asn Single submitter ⚠
p.Cys415Phe Single submitter ⚠
p.Gln194Leu Single submitter ⚠
p.Gln451His Single submitter ⚠
p.Gln507Arg Single submitter ⚠
p.Gln512Pro Single submitter ⚠
p.Glu397Lys Single submitter ⚠
p.Gly195Ser Single submitter ⚠
p.Gly197Val Single submitter ⚠
p.Gly207Ser Single submitter ⚠
p.Gly467Glu Single submitter ⚠
p.Gly478Trp Single submitter ⚠
p.Gly492Arg Single submitter ⚠
p.Gly500Arg Single submitter ⚠
p.Gly501Val Single submitter ⚠
p.His331Tyr Single submitter ⚠
p.His558Arg Single submitter ⚠
p.Ile292Val Single submitter ⚠
p.Leu152Pro Single submitter ⚠
p.Leu158Val Single submitter ⚠
p.Leu208Val Single submitter ⚠
p.Leu345Met Single submitter ⚠
p.Leu471Phe Single submitter ⚠
p.Leu5Pro Single submitter ⚠
p.Lys106Glu Single submitter ⚠
p.Met319Leu Single submitter ⚠
p.Pro141Leu Single submitter ⚠
p.Pro169Ser Single submitter ⚠
p.Pro179Leu Single submitter ⚠
p.Pro318Ala Single submitter ⚠
p.Pro429Leu Single submitter ⚠
p.Pro429Thr Single submitter ⚠
p.Pro452His Single submitter ⚠
p.Pro452Ser Single submitter ⚠
p.Pro546Ser Single submitter ⚠
p.Pro559Arg Single submitter ⚠
p.Pro6Leu Single submitter ⚠
p.Ser142Asn Single submitter ⚠
p.Ser311Leu Single submitter ⚠
p.Ser553Ile Single submitter ⚠
p.Thr23Ala Single submitter ⚠
p.Thr347Ala Single submitter ⚠
p.Thr347Ile Single submitter ⚠
p.Thr481Ala Single submitter ⚠
p.Thr83Ala Single submitter ⚠
p.Val269Leu Single submitter ⚠
p.Val287Leu Single submitter ⚠
p.Val323Met Single submitter ⚠
p.Val68Leu Single submitter ⚠