ANKS4B — 45 ClinVar variants
All ClinVar germline ANKS4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
4 Likely benign · 41 Uncertain significance
Full ANKS4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKS4B p.Ala139Val Uncertain significance Single submitter
- ANKS4B p.Ala40Asp Uncertain significance Single submitter
- ANKS4B p.Asp245His Uncertain significance Single submitter
- ANKS4B p.Asp289Val Uncertain significance Single submitter
- ANKS4B p.Asp341Asn Uncertain significance Single submitter
- ANKS4B p.Asp344Asn Uncertain significance Single submitter
- ANKS4B p.Gln138His Uncertain significance Single submitter
- ANKS4B p.Gln383Arg Uncertain significance Single submitter
- ANKS4B p.Gln407Arg Uncertain significance Single submitter
- ANKS4B p.Gln411Lys Uncertain significance Single submitter
- ANKS4B p.Glu15Gly Uncertain significance Single submitter
- ANKS4B p.Glu248Lys Uncertain significance Single submitter
- ANKS4B p.Gly314Ser Uncertain significance Single submitter
- ANKS4B p.Ile281Val Uncertain significance Single submitter
- ANKS4B p.Leu302Phe Uncertain significance Single submitter
- ANKS4B p.Lys199Gln Uncertain significance Single submitter
- ANKS4B p.Lys291Glu Uncertain significance Single submitter
- ANKS4B p.Pro347Ser Uncertain significance Single submitter
- ANKS4B p.Pro362Ala Uncertain significance Single submitter
- ANKS4B p.Ser183Leu Uncertain significance Single submitter
- ANKS4B p.Ser309Pro Uncertain significance Single submitter
- ANKS4B p.Ser82Ala Uncertain significance Single submitter
- ANKS4B p.Thr164Ala Uncertain significance Single submitter
- ANKS4B p.Thr172Ser Uncertain significance Single submitter
- ANKS4B p.Thr415Ala Uncertain significance Single submitter
- ANKS4B p.Tyr5Cys Uncertain significance Single submitter
- ANKS4B p.Val405Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ANKS4B p.Ala143Thr Uncertain significance Single submitter
- ANKS4B p.Arg4His Uncertain significance Single submitter
- ANKS4B p.Asp31His Uncertain significance Single submitter
- ANKS4B p.Cys61Trp Uncertain significance Single submitter
- ANKS4B p.Gln154His Uncertain significance Single submitter
- ANKS4B p.Gly270Arg Uncertain significance Single submitter
- ANKS4B p.Leu153Pro Uncertain significance Single submitter
- ANKS4B p.Phe205Ser Uncertain significance Single submitter
- ANKS4B p.Phe87Leu Uncertain significance Single submitter
- ANKS4B p.Thr3Ala Uncertain significance Single submitter
All ANKS4B variants
Likely benign 4
- c.165-19T>C Single submitter
- p.Gly324Ser Single submitter
- p.Ser282Leu Single submitter
- p.Val85Ile Single submitter
Uncertain significance 41
- p.Ala139Val Single submitter ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala40Asp Single submitter ⚠
- p.Arg134Ser Single submitter
- p.Arg4His Single submitter ⚠
- p.Asp245His Single submitter ⚠
- p.Asp289Val Single submitter ⚠
- p.Asp31His Single submitter ⚠
- p.Asp341Asn Single submitter ⚠
- p.Asp344Asn Single submitter ⚠
- p.Asp379Gly Single submitter
- p.Cys61Trp Single submitter ⚠
- p.Gln138His Single submitter ⚠
- p.Gln154His Single submitter ⚠
- p.Gln383Arg Single submitter ⚠
- p.Gln407Arg Single submitter ⚠
- p.Gln411Lys Single submitter ⚠
- p.Glu15Gly Single submitter ⚠
- p.Glu248Lys Single submitter ⚠
- p.Gly270Arg Single submitter ⚠
- p.Gly314Ser Single submitter ⚠
- p.Ile281Val Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Leu302Phe Single submitter ⚠
- p.Lys199Gln Single submitter ⚠
- p.Lys291Glu Single submitter ⚠
- p.Phe205Ser Single submitter ⚠
- p.Phe87Leu Single submitter ⚠
- p.Pro347Ser Single submitter ⚠
- p.Pro362Ala Single submitter ⚠
- p.Ser183Leu Single submitter ⚠
- p.Ser309Pro Single submitter ⚠
- p.Ser82Ala Single submitter ⚠
- p.Thr164Ala Single submitter ⚠
- p.Thr172Ser Single submitter ⚠
- p.Thr3Ala Single submitter ⚠
- p.Thr415Ala Single submitter ⚠
- p.Tyr41Cys Single submitter
- p.Tyr5Cys Single submitter ⚠
- p.Val132Ala Single submitter
- p.Val405Ala Single submitter ⚠