YEATS2 — 240 ClinVar variants

All ClinVar germline YEATS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

3 Conflicting · 6 Benign · 3 Benign/Likely benign · 41 Likely benign · 187 Uncertain significance

Full YEATS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 182

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 agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

YEATS2 p.Ala1104Ser Conflicting Single submitter
YEATS2 p.Ala527Ser Conflicting Single submitter
YEATS2 p.Phe1320Leu Conflicting Single submitter
epilepsy, familial adult myoclonic, 4

Predictors lean, ClinVar uncertain 142

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

Predictors split 37

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

All YEATS2 variants

Conflicting classifications of pathogenicity 3

p.Ala1104Ser Single submitter ⚠
p.Ala527Ser Single submitter ⚠
p.Phe1320Leu Single submitter epilepsy, familial adult myoclonic, 4 ⚠

Benign 6

c.3582+10A>G Multiple submitters epilepsy, familial adult myoclonic, 4
p.Val530Ile Multiple submitters epilepsy, familial adult myoclonic, 4
c.1947+46_1947+48del Single submitter epilepsy, familial adult myoclonic, 4
c.537+48_537+49insG Single submitter epilepsy, familial adult myoclonic, 4
p.Gly814del Single submitter epilepsy, familial adult myoclonic, 4
p.Ser481= Single submitter

Benign/Likely benign 3

c.292-27T>C Multiple submitters epilepsy, familial adult myoclonic, 4
p.Ala1000Thr Multiple submitters
p.Thr534Lys Multiple submitters epilepsy, familial adult myoclonic, 4

Likely benign 41

p.Ala603Thr Multiple submitters
p.Ile495Met Multiple submitters
c.1150+7C>T Single submitter
c.1150+9G>A Single submitter
c.1657-19T>C Single submitter
c.199-20G>C Single submitter
c.3098-3T>C Single submitter
c.3582+6C>A Single submitter
c.3583-13T>A Single submitter
c.925-4A>G Single submitter
c.969+17C>T Single submitter
c.970-6G>A Single submitter
p.Ala1102= Single submitter
p.Ala1353= Single submitter
p.Arg1349Lys Single submitter
p.Asn168= Single submitter
p.Asn966= Single submitter
p.Cys1230= Single submitter
p.Glu284= Single submitter
p.Gly1065= Single submitter
p.Gly804= Single submitter
p.Gly812= Single submitter
p.Gly813_Gly814del Single submitter
p.Leu1367= Single submitter
p.Leu267= Single submitter
p.Pro1099Ser Single submitter
p.Pro1344= Single submitter
p.Pro498Ser Single submitter
p.Pro933= Single submitter
p.Ser122= Single submitter
p.Thr1011= Single submitter
p.Thr1255Ile Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Thr987= Single submitter
p.Thr987Met Single submitter
p.Val1012= Single submitter
p.Val1013Ile Single submitter
p.Val212= Single submitter
p.Val693Leu Single submitter
c.1657-10AC[3] No assertion criteria YEATS2-related disorder
p.Ala830_Thr834del No assertion criteria YEATS2-related disorder
p.Gly827_Gly828insSerThrGlyGlyGlyGly No assertion criteria YEATS2-related disorder

Uncertain significance 187

p.Asp12Asn Multiple submitters epilepsy, familial adult myoclonic, 4 ⚠
p.His1216Arg Multiple submitters epilepsy, familial adult myoclonic, 4 ⚠
p.Ala1007Pro Single submitter ⚠
p.Ala1107Gly Single submitter ⚠
p.Ala1107Val Single submitter ⚠
p.Ala111Gly Single submitter ⚠
p.Ala1166Val Single submitter ⚠
p.Ala1270Gly Single submitter ⚠
p.Ala130Thr Single submitter ⚠
p.Ala1363Thr Single submitter epilepsy, familial adult myoclonic, 4
p.Ala391Gly Single submitter ⚠
p.Ala625Gly Single submitter ⚠
p.Ala643Glu Single submitter ⚠
p.Ala748Val Single submitter ⚠
p.Ala84Glu Single submitter ⚠
p.Ala919Pro Single submitter ⚠
p.Ala919Thr Single submitter ⚠
p.Arg129Lys Single submitter ⚠
p.Arg183Gly Single submitter ⚠
p.Arg193Gln Single submitter ⚠
p.Arg242Cys Single submitter ⚠
p.Arg242His Single submitter ⚠
p.Arg300Gln Single submitter ⚠
p.Arg331Gly Single submitter ⚠
p.Arg393Leu Single submitter ⚠
p.Arg477Gln Single submitter ⚠
p.Arg73Thr Single submitter ⚠
p.Asn1023Asp Single submitter ⚠
p.Asn127Ser Single submitter ⚠
p.Asn1386Lys Single submitter ⚠
p.Asn1386Tyr Single submitter ⚠
p.Asn147Ser Single submitter ⚠
p.Asn158Ser Single submitter ⚠
p.Asn522Ile Single submitter ⚠
p.Asp1370Gly Single submitter ⚠
p.Asp148Glu Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Asp180Gly Single submitter ⚠
p.Asp196Asn Single submitter ⚠
p.Gln1041Glu Single submitter ⚠
p.Gln1196Arg Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Gln1256His Single submitter ⚠
p.Gln192Arg Single submitter ⚠
p.Gln229Arg Single submitter ⚠
p.Gln40Arg Single submitter ⚠
p.Gln428Arg Single submitter ⚠
p.Gln441Arg Single submitter ⚠
p.Gln593Arg Single submitter ⚠
p.Gln66Lys Single submitter ⚠
p.Gln733Arg Single submitter ⚠
p.Gln875His Single submitter ⚠
p.Gln971= Single submitter
p.Glu1289Lys Single submitter ⚠
p.Glu1292Gly Single submitter ⚠
p.Glu1301Gly Single submitter ⚠
p.Glu163Gln Single submitter ⚠
p.Glu191fs Single submitter benign adult familial myoclonic epilepsy
p.Glu31Lys Single submitter ⚠
p.Glu328Lys Single submitter ⚠
p.Glu336Lys Single submitter ⚠
p.Gly1332Arg Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Gly186Ala Single submitter ⚠
p.Gly507Glu Single submitter ⚠
p.Gly543Arg Single submitter ⚠
p.Gly596Ala Single submitter ⚠
p.Gly621Asp Single submitter ⚠
p.Gly656Arg Single submitter ⚠
p.Gly705Asp Single submitter ⚠
p.Gly814Ser Single submitter ⚠
p.Gly816Ala Single submitter ⚠
p.Gly818Arg Single submitter ⚠
p.Gly818Ser Single submitter ⚠
p.Gly821Asp Single submitter ⚠
p.Gly828Arg Single submitter ⚠
p.Gly839Val Single submitter ⚠
p.His188Leu Single submitter ⚠
p.His276Tyr Single submitter ⚠
p.His332Arg Single submitter ⚠
p.His542Tyr Single submitter ⚠
p.His59Leu Single submitter
p.Ile112Val Single submitter ⚠
p.Ile1144Val Single submitter ⚠
p.Ile1226Val Single submitter ⚠
p.Ile1331Thr Single submitter ⚠
p.Ile359Thr Single submitter ⚠
p.Ile369Val Single submitter ⚠
p.Ile524Val Single submitter ⚠
p.Ile591Val Single submitter ⚠
p.Ile633Val Single submitter ⚠
p.Ile69Met Single submitter ⚠
p.Ile843Leu Single submitter ⚠
p.Ile853fs Single submitter
p.Leu1049Met Single submitter ⚠
p.Leu1049Val Single submitter ⚠
p.Leu1058Pro Single submitter ⚠
p.Leu1121Pro Single submitter ⚠
p.Leu1121Val Single submitter ⚠
p.Leu557Phe Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Leu583Val Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Leu886Val Single submitter ⚠
p.Leu938Val Single submitter ⚠
p.Leu946Arg Single submitter ⚠
p.Leu963His Single submitter ⚠
p.Lys1167Arg Single submitter ⚠
p.Lys1203Asn Single submitter ⚠
p.Lys1309Glu Single submitter ⚠
p.Lys153Arg Single submitter ⚠
p.Lys577Arg Single submitter ⚠
p.Lys649fs Single submitter
p.Met1071Ile Single submitter ⚠
p.Met1359Val Single submitter ⚠
p.Met623Lys Single submitter ⚠
p.Phe1267Leu Single submitter ⚠
p.Phe257Val Single submitter ⚠
p.Pro110Ala Single submitter
p.Pro1113Ser Single submitter ⚠
p.Pro1116Thr Single submitter ⚠
p.Pro1118Ser Single submitter ⚠
p.Pro1213Leu Single submitter ⚠
p.Pro1238Leu Single submitter ⚠
p.Pro1261Leu Single submitter ⚠
p.Pro1261Ser Single submitter ⚠
p.Pro221Leu Single submitter ⚠
p.Pro245Ser Single submitter ⚠
p.Pro368Ser Single submitter ⚠
p.Pro479Leu Single submitter ⚠
p.Pro506Leu Single submitter ⚠
p.Pro613Ser Single submitter ⚠
p.Pro689Ala Single submitter ⚠
p.Ser1172Gly Single submitter ⚠
p.Ser1175Phe Single submitter
p.Ser118Thr Single submitter ⚠
p.Ser1249Phe Single submitter ⚠
p.Ser1300Phe Single submitter ⚠
p.Ser157Asn Single submitter ⚠
p.Ser182Cys Single submitter ⚠
p.Ser19Phe Single submitter ⚠
p.Ser481Phe Single submitter ⚠
p.Ser549Pro Single submitter ⚠
p.Ser549Tyr Single submitter ⚠
p.Ser608Arg Single submitter ⚠
p.Ser642Pro Single submitter ⚠
p.Ser795Ala Single submitter ⚠
p.Ser798Cys Single submitter ⚠
p.Ser939Leu Single submitter ⚠
p.Ser96Phe Single submitter ⚠
p.Ser990Thr Single submitter ⚠
p.Thr1016Ala Single submitter ⚠
p.Thr1016Met Single submitter ⚠
p.Thr101fs Single submitter
p.Thr1062Ile Single submitter ⚠
p.Thr1127Ile Single submitter ⚠
p.Thr1325Ile Single submitter ⚠
p.Thr1341Ile Single submitter ⚠
p.Thr1382Ile Single submitter ⚠
p.Thr1382Ser Single submitter ⚠
p.Thr181Ser Single submitter ⚠
p.Thr278Ile Single submitter ⚠
p.Thr314Ala Single submitter ⚠
p.Thr318Ala Single submitter ⚠
p.Thr514Ile Single submitter ⚠
p.Thr526Met Single submitter ⚠
p.Thr739Met Single submitter ⚠
p.Thr786Met Single submitter ⚠
p.Thr850Ile Single submitter ⚠
p.Thr857Ile Single submitter ⚠
p.Thr871Ile Single submitter ⚠
p.Thr928Ser Single submitter ⚠
p.Thr957Ile Single submitter ⚠
p.Thr982Met Single submitter ⚠
p.Tyr1182Ser Single submitter ⚠
p.Val1019Met Single submitter ⚠
p.Val1179Met Single submitter ⚠
p.Val1253Ala Single submitter epilepsy, familial adult myoclonic, 4 ⚠
p.Val1345Leu Single submitter ⚠
p.Val1345Met Single submitter ⚠
p.Val1378Phe Single submitter ⚠
p.Val215Leu Single submitter ⚠
p.Val287Ile Single submitter ⚠
p.Val289Ile Single submitter ⚠
p.Val363Leu Single submitter ⚠
p.Val442Phe Single submitter ⚠
p.Val601Met Single submitter ⚠
p.Val618Leu Single submitter ⚠
p.Val687Ala Single submitter ⚠
p.Val710Ile Single submitter ⚠
p.Val961Met Single submitter ⚠
p.Pro1044Leu No assertion criteria breast ductal adenocarcinoma ⚠