ANKRD44 — 123 ClinVar variants
All ClinVar germline ANKRD44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
1 Likely pathogenic · 1 Likely benign · 121 Uncertain significance
Full ANKRD44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKRD44 p.Ala180Thr Uncertain significance Single submitter
- ANKRD44 p.Ala242Val Uncertain significance Single submitter
- ANKRD44 p.Ala246Val Uncertain significance Single submitter
- ANKRD44 p.Ala2Gly Uncertain significance Single submitter
- ANKRD44 p.Ala462Ser Uncertain significance Single submitter
- ANKRD44 p.Ala493Asp Uncertain significance Single submitter
- ANKRD44 p.Ala503Thr Uncertain significance Single submitter
- ANKRD44 p.Ala541Pro Uncertain significance Single submitter
- ANKRD44 p.Ala685Thr Uncertain significance Single submitter
- ANKRD44 p.Ala749Thr Uncertain significance Single submitter
- ANKRD44 p.Ala820Thr Uncertain significance Single submitter
- ANKRD44 p.Ala83Ser Uncertain significance Single submitter
- ANKRD44 p.Ala867Thr Uncertain significance Single submitter
- ANKRD44 p.Ala966Thr Uncertain significance Single submitter
- ANKRD44 p.Ala988Thr Uncertain significance Single submitter
- ANKRD44 p.Arg25Gln Uncertain significance Single submitter
- ANKRD44 p.Arg25Trp Uncertain significance Single submitter
- ANKRD44 p.Arg472Cys Uncertain significance Single submitter
- ANKRD44 p.Arg528Gln Uncertain significance Single submitter
- ANKRD44 p.Arg746Cys Uncertain significance Single submitter
- ANKRD44 p.Arg951Cys Uncertain significance Single submitter
- ANKRD44 p.Arg951His Uncertain significance Single submitter
- ANKRD44 p.Arg977Gly Uncertain significance Single submitter
- ANKRD44 p.Arg977Ser Uncertain significance Single submitter
- ANKRD44 p.Asn165Thr Uncertain significance Single submitter
- ANKRD44 p.Asn631Ser Uncertain significance Single submitter
- ANKRD44 p.Asn644Ser Uncertain significance Single submitter
- ANKRD44 p.Asn695Ile Uncertain significance Single submitter
- ANKRD44 p.Asn784Asp Uncertain significance Single submitter
- ANKRD44 p.Asn818Lys Uncertain significance Single submitter
- ANKRD44 p.Asn893Ser Uncertain significance Single submitter
- ANKRD44 p.Asn952Asp Uncertain significance Single submitter
- ANKRD44 p.Asp203Gly Uncertain significance Single submitter
- ANKRD44 p.Asp664Asn Uncertain significance Single submitter
- ANKRD44 p.Glu614Lys Uncertain significance Single submitter
- ANKRD44 p.Glu959Lys Uncertain significance Single submitter
- ANKRD44 p.Gly139Ala Uncertain significance Single submitter
- ANKRD44 p.Gly151Ser Uncertain significance Single submitter
- ANKRD44 p.Gly19Ser Uncertain significance Single submitter
- ANKRD44 p.Gly350Ser Uncertain significance Single submitter
- ANKRD44 p.Gly362Arg Uncertain significance Single submitter
- ANKRD44 p.His29Arg Uncertain significance Single submitter
- ANKRD44 p.His494Arg Uncertain significance Single submitter
- ANKRD44 p.His544Asp Uncertain significance Single submitter
- ANKRD44 p.Ile421Val Uncertain significance Single submitter
- ANKRD44 p.Ile454Val Uncertain significance Single submitter
- ANKRD44 p.Ile683Val Uncertain significance Single submitter
- ANKRD44 p.Ile729Val Uncertain significance Single submitter
- ANKRD44 p.Ile929Leu Uncertain significance Single submitter
- ANKRD44 p.Leu186Ser Uncertain significance Single submitter
- ANKRD44 p.Leu186Val Uncertain significance Single submitter
- ANKRD44 p.Leu4Phe Uncertain significance Single submitter
- ANKRD44 p.Leu760Phe Uncertain significance Single submitter
- ANKRD44 p.Leu78Pro Uncertain significance Single submitter
- ANKRD44 p.Leu912Val Uncertain significance Single submitter
- ANKRD44 p.Lys121Thr Uncertain significance Single submitter
- ANKRD44 p.Lys304Glu Uncertain significance Single submitter
- ANKRD44 p.Lys436Asn Uncertain significance Single submitter
- ANKRD44 p.Lys634Arg Uncertain significance Single submitter
- ANKRD44 p.Lys902Thr Uncertain significance Single submitter
- ANKRD44 p.Met312Val Uncertain significance Single submitter
- ANKRD44 p.Met712Thr Uncertain significance Single submitter
- ANKRD44 p.Pro110Leu Uncertain significance Single submitter
- ANKRD44 p.Pro441Leu Uncertain significance Single submitter
- ANKRD44 p.Pro660Leu Uncertain significance Single submitter
- ANKRD44 p.Pro807Ser Uncertain significance Single submitter
- ANKRD44 p.Pro842Ser Uncertain significance Single submitter
- ANKRD44 p.Ser372Asn Uncertain significance Single submitter
- ANKRD44 p.Ser497Pro Uncertain significance Single submitter
- ANKRD44 p.Ser862Arg Uncertain significance Single submitter
- ANKRD44 p.Ser862Gly Uncertain significance Single submitter
- ANKRD44 p.Ser933Thr Uncertain significance Single submitter
- ANKRD44 p.Thr200Ile Uncertain significance Single submitter
- ANKRD44 p.Thr365Ile Uncertain significance Single submitter
- ANKRD44 p.Thr365Lys Uncertain significance Single submitter
- ANKRD44 p.Thr488Ile Uncertain significance Single submitter
- ANKRD44 p.Thr512Ile Uncertain significance Single submitter
- ANKRD44 p.Thr738Met Uncertain significance Single submitter
- ANKRD44 p.Trp107Cys Uncertain significance Single submitter
- ANKRD44 p.Tyr680His Uncertain significance Single submitter
- ANKRD44 p.Val120Gly Uncertain significance Single submitter
- ANKRD44 p.Val464Ile Uncertain significance Single submitter
- ANKRD44 p.Val616Met Uncertain significance Single submitter
- ANKRD44 p.Val663Leu Uncertain significance Single submitter
- ANKRD44 p.Val67Ala Uncertain significance Single submitter
- ANKRD44 p.Val832Ile Uncertain significance Single submitter
- ANKRD44 p.Val92Ile Uncertain significance Single submitter
- ANKRD44 p.Val971Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- ANKRD44 p.Ala164Thr Uncertain significance Single submitter
- ANKRD44 p.Ala478Thr Uncertain significance Single submitter
- ANKRD44 p.Ala89Val Uncertain significance Single submitter
- ANKRD44 p.Arg141Cys Uncertain significance Single submitter
- ANKRD44 p.Arg174Gln Uncertain significance Single submitter
- ANKRD44 p.Arg175Cys Uncertain significance Single submitter
- ANKRD44 p.Arg528Trp Uncertain significance Single submitter
- ANKRD44 p.Arg554Gly Uncertain significance Single submitter
- ANKRD44 p.Asn134Ser Uncertain significance Single submitter
- ANKRD44 p.Asp137Asn Uncertain significance Single submitter
- ANKRD44 p.Asp187Val Uncertain significance Single submitter
- ANKRD44 p.Asp482Gly Uncertain significance Single submitter
- ANKRD44 p.Cys388Ser Uncertain significance Single submitter
- ANKRD44 p.Glu290Asp Uncertain significance Single submitter
- ANKRD44 p.Glu516Ala Uncertain significance Single submitter
- ANKRD44 p.Glu853Gln Uncertain significance Single submitter
- ANKRD44 p.Gly262Ser Uncertain significance Single submitter
- ANKRD44 p.Gly917Ala Uncertain significance Single submitter
- ANKRD44 p.His145Gln Uncertain significance Single submitter
- ANKRD44 p.Ile626Ser Uncertain significance Single submitter
- ANKRD44 p.Lys223Asn Uncertain significance Single submitter
- ANKRD44 p.Lys955Asn Uncertain significance Single submitter
- ANKRD44 p.Ser84Phe Uncertain significance Single submitter
- ANKRD44 p.Thr324Ser Uncertain significance Single submitter
- ANKRD44 p.Thr774Met Uncertain significance Single submitter
- ANKRD44 p.Val34Met Uncertain significance Single submitter
- ANKRD44 p.Val957Leu Uncertain significance Single submitter
All ANKRD44 variants
Likely pathogenic 1
- c.1317-1308T>C Single submitter neurodevelopmental disorder with hypotonia, seizures, and absent language
Likely benign 1
- p.Ala662Val Single submitter
Uncertain significance 121
- p.Ala164Thr Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala462Ser Single submitter ⚠
- p.Ala478Thr Single submitter ⚠
- p.Ala493Asp Single submitter ⚠
- p.Ala503Thr Single submitter ⚠
- p.Ala541Pro Single submitter ⚠
- p.Ala574Ser Single submitter
- p.Ala575Ser Single submitter
- p.Ala685Thr Single submitter ⚠
- p.Ala749Thr Single submitter ⚠
- p.Ala820Thr Single submitter ⚠
- p.Ala83Ser Single submitter ⚠
- p.Ala845Val Single submitter
- p.Ala867Thr Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Ala950Val Single submitter
- p.Ala966Thr Single submitter ⚠
- p.Ala988Thr Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg528Gln Single submitter ⚠
- p.Arg528Trp Single submitter ⚠
- p.Arg554Gly Single submitter ⚠
- p.Arg746Cys Single submitter ⚠
- p.Arg951Cys Single submitter ⚠
- p.Arg951His Single submitter ⚠
- p.Arg977Gly Single submitter ⚠
- p.Arg977Ser Single submitter ⚠
- p.Asn134Ser Single submitter ⚠
- p.Asn165Thr Single submitter ⚠
- p.Asn631Ser Single submitter ⚠
- p.Asn644Ser Single submitter ⚠
- p.Asn695Ile Single submitter ⚠
- p.Asn784Asp Single submitter ⚠
- p.Asn818Lys Single submitter ⚠
- p.Asn893Ser Single submitter ⚠
- p.Asn952Asp Single submitter ⚠
- p.Asp137Asn Single submitter ⚠
- p.Asp187Val Single submitter ⚠
- p.Asp203Gly Single submitter ⚠
- p.Asp482Gly Single submitter ⚠
- p.Asp664Asn Single submitter ⚠
- p.Cys388Ser Single submitter ⚠
- p.Glu290Asp Single submitter ⚠
- p.Glu516Ala Single submitter ⚠
- p.Glu614Lys Single submitter ⚠
- p.Glu853Gln Single submitter ⚠
- p.Glu959Lys Single submitter ⚠
- p.Gly139Ala Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly350Ser Single submitter ⚠
- p.Gly362Arg Single submitter ⚠
- p.Gly917Ala Single submitter ⚠
- p.His145Gln Single submitter ⚠
- p.His29Arg Single submitter ⚠
- p.His494Arg Single submitter ⚠
- p.His544Asp Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Ile454Val Single submitter ⚠
- p.Ile626Ser Single submitter ⚠
- p.Ile683Val Single submitter ⚠
- p.Ile729Val Single submitter ⚠
- p.Ile929Leu Single submitter ⚠
- p.Leu186Ser Single submitter ⚠
- p.Leu186Val Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu760Phe Single submitter ⚠
- p.Leu78Pro Single submitter ⚠
- p.Leu823Val Single submitter
- p.Leu912Val Single submitter ⚠
- p.Lys121Thr Single submitter ⚠
- p.Lys223Asn Single submitter ⚠
- p.Lys304Glu Single submitter ⚠
- p.Lys436Asn Single submitter ⚠
- p.Lys634Arg Single submitter ⚠
- p.Lys902Thr Single submitter ⚠
- p.Lys955Asn Single submitter ⚠
- p.Met183Thr Single submitter
- p.Met312Val Single submitter ⚠
- p.Met712Thr Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro441Leu Single submitter ⚠
- p.Pro660Leu Single submitter ⚠
- p.Pro807Ser Single submitter ⚠
- p.Pro842Ser Single submitter ⚠
- p.Ser372Asn Single submitter ⚠
- p.Ser497Pro Single submitter ⚠
- p.Ser84Phe Single submitter ⚠
- p.Ser862Arg Single submitter ⚠
- p.Ser862Gly Single submitter ⚠
- p.Ser933Thr Single submitter ⚠
- p.Thr200Ile Single submitter ⚠
- p.Thr324Ser Single submitter ⚠
- p.Thr365Ile Single submitter ⚠
- p.Thr365Lys Single submitter ⚠
- p.Thr488Ile Single submitter ⚠
- p.Thr512Ile Single submitter ⚠
- p.Thr738Met Single submitter ⚠
- p.Thr774Met Single submitter ⚠
- p.Trp107Cys Single submitter ⚠
- p.Tyr680His Single submitter ⚠
- p.Val120Gly Single submitter ⚠
- p.Val34Met Single submitter ⚠
- p.Val464Ile Single submitter ⚠
- p.Val616Met Single submitter ⚠
- p.Val663Leu Single submitter ⚠
- p.Val67Ala Single submitter ⚠
- p.Val832Ile Single submitter ⚠
- p.Val92Ile Single submitter ⚠
- p.Val957Leu Single submitter ⚠
- p.Val971Ile Single submitter ⚠