FAM83B — 143 ClinVar variants

All ClinVar germline FAM83B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

3 Benign · 5 Likely benign · 135 Uncertain significance

Full FAM83B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 115

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

Predictors split 19

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

All FAM83B variants

Benign 3

p.Asn952= Single submitter
p.Ile166= Single submitter
p.Pro113= Single submitter

Likely benign 5

p.Arg987His Single submitter
p.Leu978Met Single submitter
p.Met968Val Single submitter
p.Ser355Asn Single submitter
p.Thr733Ala Single submitter

Uncertain significance 135

c.445-9A>G Single submitter
p.Ala426Val Single submitter ⚠
p.Ala42Thr Single submitter ⚠
p.Ala445Asp Single submitter ⚠
p.Ala449Val Single submitter ⚠
p.Ala623Gly Single submitter ⚠
p.Ala76Thr Single submitter ⚠
p.Ala794Glu Single submitter ⚠
p.Ala794Thr Single submitter ⚠
p.Ala966Val Single submitter ⚠
p.Arg140Gln Single submitter ⚠
p.Arg172Gln Single submitter ⚠
p.Arg201Cys Single submitter ⚠
p.Arg201His Single submitter ⚠
p.Arg373His Single submitter ⚠
p.Arg430Trp Single submitter ⚠
p.Arg447Gln Single submitter ⚠
p.Arg464Trp Single submitter ⚠
p.Arg475His Single submitter ⚠
p.Arg475Leu Single submitter ⚠
p.Arg480Leu Single submitter ⚠
p.Arg51Gln Single submitter ⚠
p.Arg690Ser Single submitter ⚠
p.Arg727Lys Single submitter ⚠
p.Arg897Gln Single submitter ⚠
p.Arg931Trp Single submitter ⚠
p.Arg932His Single submitter ⚠
p.Arg932Ser Single submitter ⚠
p.Asn352Asp Single submitter ⚠
p.Asn365Asp Single submitter ⚠
p.Asn502Ser Single submitter ⚠
p.Asn525His Single submitter ⚠
p.Asn890Ser Single submitter ⚠
p.Asp471Tyr Single submitter ⚠
p.Asp518Val Single submitter ⚠
p.Asp80Val Single submitter ⚠
p.Asp81Val Single submitter ⚠
p.Asp85Gly Single submitter ⚠
p.Asp898His Single submitter ⚠
p.Cys197Phe Single submitter ⚠
p.Gln647His Single submitter ⚠
p.Gln647Lys Single submitter ⚠
p.Gln855Glu Single submitter ⚠
p.Glu182Lys Single submitter ⚠
p.Glu267Lys Single submitter ⚠
p.Glu289Gly Single submitter ⚠
p.Glu289Lys Single submitter ⚠
p.Glu552Asp Single submitter ⚠
p.Glu58Asp Single submitter ⚠
p.Glu59Gly Single submitter ⚠
p.Glu718Gln Single submitter ⚠
p.Glu750Asp Single submitter ⚠
p.Glu901Asp Single submitter ⚠
p.Glu938Lys Single submitter ⚠
p.Glu938Val Single submitter ⚠
p.Gly107Val Single submitter ⚠
p.Gly117Arg Single submitter ⚠
p.Gly118Asp Single submitter ⚠
p.Gly196Asp Single submitter ⚠
p.Gly357Arg Single submitter ⚠
p.Gly39Arg Single submitter ⚠
p.Gly414Ser Single submitter ⚠
p.Gly643Arg Single submitter ⚠
p.His224Arg Single submitter ⚠
p.His330Arg Single submitter ⚠
p.His387Gln Single submitter ⚠
p.His437Arg Single submitter ⚠
p.His537Pro Single submitter ⚠
p.His832Tyr Single submitter ⚠
p.His927Tyr Single submitter ⚠
p.Ile342Leu Single submitter ⚠
p.Ile842Asn Single submitter ⚠
p.Ile958Lys Single submitter ⚠
p.Leu423His Single submitter ⚠
p.Leu423Phe Single submitter ⚠
p.Leu456Arg Single submitter ⚠
p.Leu456Val Single submitter ⚠
p.Leu47Pro Single submitter ⚠
p.Leu614Met Single submitter ⚠
p.Leu642Trp Single submitter ⚠
p.Leu717Ser Single submitter ⚠
p.Leu744Phe Single submitter ⚠
p.Lys222Gln Single submitter ⚠
p.Lys295Thr Single submitter ⚠
p.Lys350Arg Single submitter ⚠
p.Lys700Arg Single submitter ⚠
p.Lys753Glu Single submitter ⚠
p.Lys786Ile Single submitter ⚠
p.Lys791Asn Single submitter ⚠
p.Lys942Glu Single submitter ⚠
p.Met142Ile Single submitter ⚠
p.Met191Thr Single submitter ⚠
p.Phe286Leu Single submitter ⚠
p.Phe444Leu Single submitter ⚠
p.Phe937Ser Single submitter ⚠
p.Phe940Cys Single submitter ⚠
p.Phe940Val Single submitter ⚠
p.Pro109Arg Single submitter ⚠
p.Pro113Ser Single submitter ⚠
p.Pro364Leu Single submitter ⚠
p.Pro482Gln Single submitter ⚠
p.Pro551Ser Single submitter ⚠
p.Pro666Leu Single submitter ⚠
p.Pro783Ser Single submitter ⚠
p.Pro860Ala Single submitter ⚠
p.Pro870Leu Single submitter ⚠
p.Pro977Ser Single submitter ⚠
p.Ser183Phe Single submitter ⚠
p.Ser285Thr Single submitter ⚠
p.Ser317Tyr Single submitter ⚠
p.Ser334Phe Single submitter ⚠
p.Ser422Arg Single submitter ⚠
p.Ser542Phe Single submitter ⚠
p.Ser729Thr Single submitter ⚠
p.Ser74Arg Single submitter ⚠
p.Ser951Asn Single submitter ⚠
p.Ser975Tyr Single submitter ⚠
p.Thr134Met Single submitter ⚠
p.Thr171Ile Single submitter ⚠
p.Thr3Ile Single submitter ⚠
p.Thr536Ala Single submitter ⚠
p.Thr591Ser Single submitter ⚠
p.Thr714Ala Single submitter ⚠
p.Thr782Ile Single submitter ⚠
p.Thr919Ala Single submitter ⚠
p.Thr919Met Single submitter ⚠
p.Thr956Ile Single submitter ⚠
p.Tyr343Cys Single submitter ⚠
p.Tyr639Cys Single submitter ⚠
p.Tyr639His Single submitter ⚠
p.Tyr683Phe Single submitter ⚠
p.Val294Met Single submitter ⚠
p.Val310Met Single submitter ⚠
p.Val545Leu Single submitter ⚠
p.Val746Gly Single submitter ⚠