ANKRD53 — 110 ClinVar variants
All ClinVar germline ANKRD53 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
11 Likely benign · 99 Uncertain significance
Full ANKRD53 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKRD53 p.Ala11Glu Uncertain significance Single submitter
- ANKRD53 p.Ala143Asp Uncertain significance Single submitter
- ANKRD53 p.Ala219Ser Uncertain significance Single submitter
- ANKRD53 p.Ala242Thr Uncertain significance Single submitter
- ANKRD53 p.Ala310Thr Uncertain significance Single submitter
- ANKRD53 p.Ala39Pro Uncertain significance Single submitter
- ANKRD53 p.Ala434Pro Uncertain significance Single submitter
- ANKRD53 p.Ala445Val Uncertain significance Single submitter
- ANKRD53 p.Ala88Ser Uncertain significance Single submitter
- ANKRD53 p.Arg220Cys Uncertain significance Single submitter
- ANKRD53 p.Arg257Cys Uncertain significance Single submitter
- ANKRD53 p.Arg257His Uncertain significance Single submitter
- ANKRD53 p.Arg27Pro Uncertain significance Single submitter
- ANKRD53 p.Arg334Gln Uncertain significance Single submitter
- ANKRD53 p.Arg334Trp Uncertain significance Single submitter
- ANKRD53 p.Arg360Cys Uncertain significance Single submitter
- ANKRD53 p.Arg360His Uncertain significance Single submitter
- ANKRD53 p.Arg376Thr Uncertain significance Single submitter
- ANKRD53 p.Arg382Gln Uncertain significance Single submitter
- ANKRD53 p.Arg407Cys Uncertain significance Single submitter
- ANKRD53 p.Arg407His Uncertain significance Single submitter
- ANKRD53 p.Arg449Trp Uncertain significance Single submitter
- ANKRD53 p.Arg457Gly Uncertain significance Single submitter
- ANKRD53 p.Arg462His Uncertain significance Single submitter
- ANKRD53 p.Arg480Ser Uncertain significance Single submitter
- ANKRD53 p.Arg486Gln Uncertain significance Single submitter
- ANKRD53 p.Arg503Cys Uncertain significance Single submitter
- ANKRD53 p.Arg76Ser Uncertain significance Single submitter
- ANKRD53 p.Arg79Cys Uncertain significance Single submitter
- ANKRD53 p.Arg9Gln Uncertain significance Single submitter
- ANKRD53 p.Asn172His Uncertain significance Single submitter
- ANKRD53 p.Asn186Thr Uncertain significance Single submitter
- ANKRD53 p.Asn210Ser Uncertain significance Single submitter
- ANKRD53 p.Asn501Thr Uncertain significance Single submitter
- ANKRD53 p.Asn529Ser Uncertain significance Single submitter
- ANKRD53 p.Asp50Asn Uncertain significance Single submitter
- ANKRD53 p.Asp97Val Uncertain significance Single submitter
- ANKRD53 p.Gln527His Uncertain significance Single submitter
- ANKRD53 p.Gly409Ser Uncertain significance Single submitter
- ANKRD53 p.Gly430Ala Uncertain significance Single submitter
- ANKRD53 p.Gly430Glu Uncertain significance Single submitter
- ANKRD53 p.Gly433Ser Uncertain significance Single submitter
- ANKRD53 p.Gly519Ala Uncertain significance Single submitter
- ANKRD53 p.His304Asp Uncertain significance Single submitter
- ANKRD53 p.His321Gln Uncertain significance Single submitter
- ANKRD53 p.His354Arg Uncertain significance Single submitter
- ANKRD53 p.His66Gln Uncertain significance Single submitter
- ANKRD53 p.Ile364Thr Uncertain significance Single submitter
- ANKRD53 p.Leu180Phe Uncertain significance Single submitter
- ANKRD53 p.Leu291Phe Uncertain significance Single submitter
- ANKRD53 p.Leu297Pro Uncertain significance Single submitter
- ANKRD53 p.Leu338His Uncertain significance Single submitter
- ANKRD53 p.Leu488Pro Uncertain significance Single submitter
- ANKRD53 p.Leu74Pro Uncertain significance Single submitter
- ANKRD53 p.Lys228Thr Uncertain significance Single submitter
- ANKRD53 p.Lys45Arg Uncertain significance Single submitter
- ANKRD53 p.Lys45Met Uncertain significance Single submitter
- ANKRD53 p.Lys94Asn Uncertain significance Single submitter
- ANKRD53 p.Met292Arg Uncertain significance Single submitter
- ANKRD53 p.Met292Thr Uncertain significance Single submitter
- ANKRD53 p.Phe146Tyr Uncertain significance Single submitter
- ANKRD53 p.Pro355Ser Uncertain significance Single submitter
- ANKRD53 p.Pro371Arg Uncertain significance Single submitter
- ANKRD53 p.Pro392Ser Uncertain significance Single submitter
- ANKRD53 p.Pro416Leu Uncertain significance Single submitter
- ANKRD53 p.Pro428Thr Uncertain significance Single submitter
- ANKRD53 p.Pro77Gln Uncertain significance Single submitter
- ANKRD53 p.Ser325Thr Uncertain significance Single submitter
- ANKRD53 p.Ser421Gly Uncertain significance Single submitter
- ANKRD53 p.Ser82Leu Uncertain significance Single submitter
- ANKRD53 p.Thr176Ile Uncertain significance Single submitter
- ANKRD53 p.Thr31Ile Uncertain significance Single submitter
- ANKRD53 p.Thr522Asn Uncertain significance Single submitter
- ANKRD53 p.Thr99Met Uncertain significance Single submitter
- ANKRD53 p.Trp443Arg Uncertain significance Single submitter
- ANKRD53 p.Trp494Cys Uncertain significance Single submitter
- ANKRD53 p.Tyr110Asp Uncertain significance Single submitter
- ANKRD53 p.Tyr466His Uncertain significance Single submitter
- ANKRD53 p.Val160Ile Uncertain significance Single submitter
- ANKRD53 p.Val357Ala Uncertain significance Single submitter
- ANKRD53 p.Val447Met Uncertain significance Single submitter
- ANKRD53 p.Val454Met Uncertain significance Single submitter
- ANKRD53 p.Val470Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ANKRD53 p.Arg503Ser Uncertain significance Single submitter
- ANKRD53 p.Asn119Lys Uncertain significance Single submitter
- ANKRD53 p.Gly432Ser Uncertain significance Single submitter
- ANKRD53 p.Gly441Val Uncertain significance Single submitter
- ANKRD53 p.Met267Ile Uncertain significance Single submitter
- ANKRD53 p.Phe146Leu Uncertain significance Single submitter
- ANKRD53 p.Phe510Leu Uncertain significance Single submitter
- ANKRD53 p.Pro471Arg Uncertain significance Single submitter
- ANKRD53 p.Thr213Met Uncertain significance Single submitter
- ANKRD53 p.Thr438Ile Uncertain significance Single submitter
- ANKRD53 p.Val181Leu Uncertain significance Single submitter
All ANKRD53 variants
Likely benign 11
- c.904-450C>T Single submitter
- p.Ala311Asp Single submitter
- p.Ala88Val Single submitter
- p.Arg449Gln Single submitter
- p.Arg87His Single submitter
- p.Asn295= Single submitter
- p.Gly430Arg Single submitter
- p.Leu263= Single submitter
- p.Lys94Glu Single submitter
- p.Ser403= Single submitter
- p.Val380Ile Single submitter
Uncertain significance 99
- p.Ala11Glu Single submitter ⚠
- p.Ala143Asp Single submitter ⚠
- p.Ala148Thr Single submitter
- p.Ala219Ser Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala310Thr Single submitter ⚠
- p.Ala39Pro Single submitter ⚠
- p.Ala434Pro Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Ala88Ser Single submitter ⚠
- p.Arg220Cys Single submitter ⚠
- p.Arg257Cys Single submitter ⚠
- p.Arg257His Single submitter ⚠
- p.Arg261Trp Single submitter
- p.Arg27Pro Single submitter ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg360Cys Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg376Thr Single submitter ⚠
- p.Arg382Gln Single submitter ⚠
- p.Arg407Cys Single submitter ⚠
- p.Arg407His Single submitter ⚠
- p.Arg449Trp Single submitter ⚠
- p.Arg457Gly Single submitter ⚠
- p.Arg462His Single submitter ⚠
- p.Arg480Ser Single submitter ⚠
- p.Arg486Gln Single submitter ⚠
- p.Arg503Cys Single submitter ⚠
- p.Arg503Ser Single submitter ⚠
- p.Arg76Ser Single submitter ⚠
- p.Arg79Cys Single submitter ⚠
- p.Arg9Gln Single submitter ⚠
- p.Asn119Lys Single submitter ⚠
- p.Asn172His Single submitter ⚠
- p.Asn186Thr Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asn501Thr Single submitter ⚠
- p.Asn529Ser Single submitter ⚠
- p.Asp419Tyr Single submitter
- p.Asp50Asn Single submitter ⚠
- p.Asp97Val Single submitter ⚠
- p.Gln527His Single submitter ⚠
- p.Gly409Ser Single submitter ⚠
- p.Gly430Ala Single submitter ⚠
- p.Gly430Glu Single submitter ⚠
- p.Gly432Ser Single submitter ⚠
- p.Gly433Ser Single submitter ⚠
- p.Gly441Val Single submitter ⚠
- p.Gly519Ala Single submitter ⚠
- p.His304Asp Single submitter ⚠
- p.His321Gln Single submitter ⚠
- p.His354Arg Single submitter ⚠
- p.His66Gln Single submitter ⚠
- p.Ile364Thr Single submitter ⚠
- p.Leu180Phe Single submitter ⚠
- p.Leu291Phe Single submitter ⚠
- p.Leu297Pro Single submitter ⚠
- p.Leu338His Single submitter ⚠
- p.Leu488Pro Single submitter ⚠
- p.Leu74Pro Single submitter ⚠
- p.Lys228Thr Single submitter ⚠
- p.Lys286Glu Single submitter
- p.Lys45Arg Single submitter ⚠
- p.Lys45Met Single submitter ⚠
- p.Lys94Asn Single submitter ⚠
- p.Met267Ile Single submitter ⚠
- p.Met279Arg Single submitter
- p.Met292Arg Single submitter ⚠
- p.Met292Thr Single submitter ⚠
- p.Phe146Leu Single submitter ⚠
- p.Phe146Tyr Single submitter ⚠
- p.Phe510Leu Single submitter ⚠
- p.Pro355Ser Single submitter ⚠
- p.Pro371Arg Single submitter ⚠
- p.Pro392Ser Single submitter ⚠
- p.Pro416Leu Single submitter ⚠
- p.Pro428Thr Single submitter ⚠
- p.Pro471Arg Single submitter ⚠
- p.Pro77Gln Single submitter ⚠
- p.Ser325Thr Single submitter ⚠
- p.Ser421Gly Single submitter ⚠
- p.Ser82Leu Single submitter ⚠
- p.Thr176Ile Single submitter ⚠
- p.Thr213Met Single submitter ⚠
- p.Thr31Ile Single submitter ⚠
- p.Thr438Ile Single submitter ⚠
- p.Thr522Asn Single submitter ⚠
- p.Thr99Met Single submitter ⚠
- p.Trp443Arg Single submitter ⚠
- p.Trp494Cys Single submitter ⚠
- p.Tyr110Asp Single submitter ⚠
- p.Tyr466His Single submitter ⚠
- p.Val160Ile Single submitter ⚠
- p.Val181Leu Single submitter ⚠
- p.Val357Ala Single submitter ⚠
- p.Val447Met Single submitter ⚠
- p.Val454Met Single submitter ⚠
- p.Val470Met Single submitter ⚠