ATF6B — 94 ClinVar variants

All ClinVar germline ATF6B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

1 Benign · 17 Likely benign · 76 Uncertain significance

Full ATF6B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 46

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

Predictors split 31

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

All ATF6B variants

Benign 1

c.1614+8G>A Single submitter

Likely benign 17

p.His601Leu Multiple submitters
p.Ala484Thr Single submitter
p.Ala534Thr Single submitter
p.Arg377Gln Single submitter
p.Arg543Trp Single submitter ⚠
p.Asp575Glu Single submitter
p.Glu387Lys Single submitter
p.Gly456Arg Single submitter
p.Gly456Glu Single submitter
p.Ile400Val Single submitter
p.Leu29= Single submitter
p.Pro466Leu Single submitter
p.Pro468Ser Single submitter
p.Ser61Gly Single submitter
p.Ser62Pro Single submitter
p.Ser72Pro Single submitter
p.Thr678= Single submitter

Uncertain significance 76

p.Ala11Thr Single submitter ⚠
p.Ala236Asp Single submitter ⚠
p.Ala2Thr Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala422Val Single submitter ⚠
p.Ala686Glu Single submitter ⚠
p.Ala686Val Single submitter ⚠
p.Ala687Asp Single submitter ⚠
p.Arg240Trp Single submitter ⚠
p.Arg328Gln Single submitter ⚠
p.Arg328Trp Single submitter ⚠
p.Arg336Gln Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg50Gly Single submitter ⚠
p.Arg572Cys Single submitter ⚠
p.Arg587Gln Single submitter ⚠
p.Arg588Gln Single submitter ⚠
p.Arg598Gly Single submitter ⚠
p.Arg598Leu Single submitter ⚠
p.Arg633His Single submitter ⚠
p.Asp12Ala Single submitter ⚠
p.Asp157Gly Single submitter ⚠
p.Asp230Gly Single submitter ⚠
p.Asp26Tyr Single submitter ⚠
p.Asp55Val Single submitter ⚠
p.Gln162Pro Single submitter ⚠
p.Gln455Lys Single submitter ⚠
p.Gln538Leu Single submitter ⚠
p.Gln555His Single submitter ⚠
p.Gln669Glu Single submitter ⚠
p.Gln696Leu Single submitter ⚠
p.Gln696Pro Single submitter ⚠
p.Glu293Asp Single submitter ⚠
p.Glu293Lys Single submitter ⚠
p.Glu320Gln Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Gly119Arg Single submitter ⚠
p.Gly637Glu Single submitter ⚠
p.Gly679Arg Single submitter ⚠
p.His438Arg Single submitter ⚠
p.His656Asp Single submitter ⚠
p.His695Gln Single submitter ⚠
p.His695Tyr Single submitter ⚠
p.Ile307Leu Single submitter ⚠
p.Ile585Val Single submitter ⚠
p.Leu374Phe Single submitter ⚠
p.Leu440Val Single submitter ⚠
p.Leu489Pro Single submitter ⚠
p.Lys334Asn Single submitter ⚠
p.Lys658Gln Single submitter ⚠
p.Pro216Leu Single submitter ⚠
p.Pro242Ser Single submitter ⚠
p.Pro295Leu Single submitter ⚠
p.Pro466Arg Single submitter ⚠
p.Pro52Ser Single submitter ⚠
p.Pro80Arg Single submitter ⚠
p.Pro83Leu Single submitter ⚠
p.Pro91Ser Single submitter ⚠
p.Ser102Thr Single submitter ⚠
p.Ser186Phe Single submitter ⚠
p.Ser23Ile Single submitter ⚠
p.Ser417Gly Single submitter ⚠
p.Ser596Cys Single submitter ⚠
p.Ser596Tyr Single submitter ⚠
p.Ser8Asn Single submitter ⚠
p.Ser93Cys Single submitter ⚠
p.Ser98Phe Single submitter ⚠
p.Thr146Asn Single submitter ⚠
p.Thr18Ser Single submitter ⚠
p.Thr629Ser Single submitter ⚠
p.Thr678Ile Single submitter ⚠
p.Val151Ile Single submitter ⚠
p.Val151Phe Single submitter ⚠
p.Val308Ile Single submitter ⚠
p.Val451Ile Single submitter ⚠
p.Val520Ala Single submitter ⚠