ANKRD50 — 173 ClinVar variants

All ClinVar germline ANKRD50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

6 Likely benign · 167 Uncertain significance

Full ANKRD50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 122

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

Predictors split 34

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

All ANKRD50 variants

Likely benign 6

p.Ala521= Single submitter
p.Ala652= Single submitter
p.Arg567= Single submitter
p.Ser1196= Single submitter
p.Ser557Asn Single submitter
p.Val1037Ile Single submitter

Uncertain significance 167

p.Ala1053Val Single submitter ⚠
p.Ala1081Gly Single submitter
p.Ala1201Ser Single submitter ⚠
p.Ala1277Val Single submitter ⚠
p.Ala219Asp Single submitter ⚠
p.Ala372Thr Single submitter ⚠
p.Ala437Val Single submitter ⚠
p.Ala469Val Single submitter ⚠
p.Ala552Thr Single submitter ⚠
p.Ala668Thr Single submitter ⚠
p.Ala846Thr Single submitter ⚠
p.Ala871Thr Single submitter ⚠
p.Ala974Glu Single submitter ⚠
p.Ala982Thr Single submitter ⚠
p.Arg1013His Single submitter ⚠
p.Arg1174Trp Single submitter
p.Arg1229Gln Single submitter ⚠
p.Arg1307Thr Single submitter ⚠
p.Arg136His Single submitter ⚠
p.Arg1383Leu Single submitter ⚠
p.Arg258Gln Single submitter ⚠
p.Arg387Leu Single submitter ⚠
p.Arg387Pro Single submitter ⚠
p.Arg434Lys Single submitter ⚠
p.Arg434Thr Single submitter
p.Arg513Cys Single submitter ⚠
p.Arg529Gln Single submitter ⚠
p.Arg782Cys Single submitter ⚠
p.Arg831Cys Single submitter ⚠
p.Arg831His Single submitter ⚠
p.Arg881Gln Single submitter ⚠
p.Arg918Trp Single submitter ⚠
p.Arg926Gly Single submitter ⚠
p.Asn1422Ile Single submitter ⚠
p.Asn355His Single submitter ⚠
p.Asn463Asp Single submitter ⚠
p.Asn463His Single submitter ⚠
p.Asn49Ser Single submitter ⚠
p.Asn508Ser Single submitter ⚠
p.Asn551Asp Single submitter ⚠
p.Asn605Ser Single submitter ⚠
p.Asn878Ser Single submitter ⚠
p.Asp1075Glu Single submitter ⚠
p.Asp1145Asn Single submitter ⚠
p.Asp698Gly Single submitter ⚠
p.Asp736Gly Single submitter ⚠
p.Asp879Gly Single submitter ⚠
p.Cys122Arg Single submitter ⚠
p.Cys1328Arg Single submitter
p.Cys25Tyr Single submitter ⚠
p.Cys442Ser Single submitter ⚠
p.Cys720Arg Single submitter ⚠
p.Cys987Ser Single submitter ⚠
p.Gln1147Arg Single submitter ⚠
p.Gln1175Arg Single submitter ⚠
p.Gln1219Arg Single submitter ⚠
p.Gln1219Glu Single submitter ⚠
p.Gln1240Arg Single submitter ⚠
p.Gln1257Arg Single submitter ⚠
p.Gln1327Pro Single submitter ⚠
p.Gln453Arg Single submitter ⚠
p.Gln465Arg Single submitter ⚠
p.Glu1325Lys Single submitter ⚠
p.Glu1354Lys Single submitter ⚠
p.Glu287Ala Single submitter ⚠
p.Glu315Gln Single submitter ⚠
p.Glu467Gln Single submitter ⚠
p.Glu525Lys Single submitter ⚠
p.Glu702Gln Single submitter ⚠
p.Glu740Lys Single submitter ⚠
p.Glu7Gln Single submitter ⚠
p.Glu963Val Single submitter ⚠
p.Gly1035Arg Single submitter ⚠
p.Gly1068Ala Single submitter ⚠
p.Gly1270Trp Single submitter ⚠
p.Gly1280Val Single submitter ⚠
p.Gly1283Glu Single submitter ⚠
p.Gly1353Ala Single submitter ⚠
p.Gly220Ala Single submitter ⚠
p.Gly535Arg Single submitter ⚠
p.Gly611Asp Single submitter ⚠
p.Gly667Asp Single submitter
p.Gly66Arg Single submitter ⚠
p.Gly738Asp Single submitter ⚠
p.Gly771Arg Single submitter ⚠
p.Gly870Asp Single submitter ⚠
p.Gly891Asp Single submitter ⚠
p.Gly990Ser Single submitter ⚠
p.His1073Gln Single submitter ⚠
p.His1210Pro Single submitter ⚠
p.His222Arg Single submitter ⚠
p.His296Tyr Single submitter ⚠
p.His35Tyr Single submitter ⚠
p.His371Arg Single submitter ⚠
p.His506Pro Single submitter ⚠
p.His606Arg Single submitter ⚠
p.His606Pro Single submitter ⚠
p.His925Gln Single submitter ⚠
p.Ile1232Val Single submitter ⚠
p.Ile127Leu Single submitter ⚠
p.Ile200Phe Single submitter ⚠
p.Ile252Val Single submitter ⚠
p.Ile460Leu Single submitter ⚠
p.Ile573Arg Single submitter ⚠
p.Ile810Val Single submitter ⚠
p.Ile882Val Single submitter ⚠
p.Ile898Leu Single submitter ⚠
p.Leu1347Pro Single submitter ⚠
p.Leu1410Val Single submitter ⚠
p.Leu389Val Single submitter ⚠
p.Leu396Phe Single submitter ⚠
p.Leu564Phe Single submitter ⚠
p.Leu582Val Single submitter ⚠
p.Leu696Val Single submitter ⚠
p.Leu833fs Single submitter
p.Leu86Val Single submitter ⚠
p.Lys1127Glu Single submitter ⚠
p.Lys146Arg Single submitter ⚠
p.Met1146Leu Single submitter ⚠
p.Met319Ile Single submitter ⚠
p.Met319Thr Single submitter
p.Met687Val Single submitter ⚠
p.Met961Lys Single submitter ⚠
p.Phe225Leu Single submitter ⚠
p.Phe455Ile Single submitter ⚠
p.Phe802fs Single submitter
p.Pro1112Ala Single submitter ⚠
p.Pro1120Leu Single submitter ⚠
p.Pro1148Ser Single submitter ⚠
p.Pro1157Ser Single submitter ⚠
p.Pro1205Leu Single submitter ⚠
p.Pro1235Leu Single submitter ⚠
p.Pro1309Ser Single submitter ⚠
p.Pro1318Gln Single submitter ⚠
p.Pro481Ser Single submitter ⚠
p.Pro4Leu Single submitter ⚠
p.Pro784Ser Single submitter ⚠
p.Ser1109Cys Single submitter ⚠
p.Ser1140Gly Single submitter ⚠
p.Ser1149Leu Single submitter ⚠
p.Ser1149Trp Single submitter ⚠
p.Ser1256Asn Single submitter ⚠
p.Ser1289Thr Single submitter ⚠
p.Ser485Phe Single submitter
p.Ser509Gly Single submitter ⚠
p.Ser790Thr Single submitter ⚠
p.Ser812Asn Single submitter ⚠
p.Ser98Arg Single submitter ⚠
p.Thr1200Ala Single submitter ⚠
p.Thr1215Ala Single submitter
p.Thr1239Ile Single submitter ⚠
p.Thr1315Ala Single submitter ⚠
p.Thr206Met Single submitter ⚠
p.Thr285Ser Single submitter ⚠
p.Thr403Ala Single submitter ⚠
p.Thr530Ala Single submitter ⚠
p.Tyr1367Cys Single submitter ⚠
p.Tyr261Cys Single submitter ⚠
p.Val1172Gly Single submitter ⚠
p.Val1374Ala Single submitter ⚠
p.Val214Ile Single submitter ⚠
p.Val263Ile Single submitter ⚠
p.Val314Ile Single submitter ⚠
p.Val54Ala Single submitter ⚠
p.Val754Ala Single submitter ⚠
p.Val764Ala Single submitter
p.Val9Ala Single submitter ⚠