CHAF1B — 71 ClinVar variants

All ClinVar germline CHAF1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Likely pathogenic · 4 Benign · 6 Likely benign · 60 Uncertain significance

Full CHAF1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CHAF1B p.Ile166Val Likely pathogenic No assertion criteria
attention deficit-hyperactivity disorder

Predictors lean, ClinVar uncertain 46

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

Predictors split 11

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

All CHAF1B variants

Likely pathogenic 1

p.Ile166Val No assertion criteria attention deficit-hyperactivity disorder ⚠

Benign 4

p.Leu486= Multiple submitters
p.Lys506Gln Multiple submitters
p.Pro415Leu Multiple submitters
p.Thr507Met Multiple submitters

Likely benign 6

p.Gly537= Single submitter
p.Leu317= Single submitter
p.Met392Val Single submitter
p.Thr531Met Single submitter
p.Val16Ala Single submitter
p.Val456Ala Single submitter

Uncertain significance 60

p.Ala105Thr Single submitter ⚠
p.Ala218Val Single submitter ⚠
p.Ala478Val Single submitter ⚠
p.Ala68Ser Single submitter ⚠
p.Arg292Cys Single submitter ⚠
p.Arg292His Single submitter ⚠
p.Arg316Cys Single submitter ⚠
p.Arg42Gly Single submitter ⚠
p.Arg498Trp Single submitter ⚠
p.Arg73His Single submitter
p.Asn343Ile Single submitter ⚠
p.Asn61Ser Single submitter ⚠
p.Asn70Ser Single submitter ⚠
p.Asp231Asn Single submitter ⚠
p.Asp245Asn Single submitter
p.Asp38Gly Single submitter ⚠
p.Gln404Arg Single submitter ⚠
p.Gln528Glu Single submitter ⚠
p.Glu219Gly Single submitter ⚠
p.Gly183Asp Single submitter ⚠
p.Gly24Val Single submitter ⚠
p.Gly408Arg Single submitter ⚠
p.Gly412Glu Single submitter ⚠
p.Ile352Thr Single submitter ⚠
p.Leu195Met Single submitter ⚠
p.Lys13Thr Single submitter ⚠
p.Lys467Glu Single submitter ⚠
p.Lys53Arg Single submitter ⚠
p.Met392Ile Single submitter ⚠
p.Pro314Ser Single submitter ⚠
p.Pro420Ala Single submitter ⚠
p.Pro427Leu Single submitter ⚠
p.Pro434His Single submitter ⚠
p.Pro471Arg Single submitter ⚠
p.Pro497Ala Single submitter ⚠
p.Pro497Ser Single submitter ⚠
p.Pro50Ala Single submitter ⚠
p.Pro511Ser Single submitter ⚠
p.Pro559Arg Single submitter ⚠
p.Pro76Leu Single submitter ⚠
p.Ser190Asn Single submitter ⚠
p.Ser199Arg Single submitter ⚠
p.Ser210Leu Single submitter ⚠
p.Ser34Phe Single submitter ⚠
p.Ser410Leu Single submitter ⚠
p.Ser464Leu Single submitter ⚠
p.Ser520Phe Single submitter ⚠
p.Ser529Leu Single submitter ⚠
p.Thr25Met Single submitter ⚠
p.Thr476Ala Single submitter ⚠
p.Thr521Pro Single submitter ⚠
p.Thr66Ser Single submitter ⚠
p.Tyr297Cys Single submitter ⚠
p.Val158Ile Single submitter ⚠
p.Val268Ile Single submitter ⚠
p.Val308Met Single submitter ⚠
p.Val327Met Single submitter
p.Val69Ile Single submitter ⚠
p.Val95Leu Single submitter ⚠
p.Thr288Ala No assertion criteria prostate cancer ⚠