ZMYND8 — 192 ClinVar variants

All ClinVar germline ZMYND8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

2 Pathogenic · 4 Likely pathogenic · 3 Conflicting · 5 Benign · 2 Benign/Likely benign · 22 Likely benign · 154 Uncertain significance

Full ZMYND8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 2

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

Predictors lean, ClinVar uncertain 79

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

Predictors split 40

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

All ZMYND8 variants

Pathogenic 2

p.Arg542Ter Single submitter
p.Lys654fs Single submitter neurodevelopmental disorder

Likely pathogenic 4

p.Asp626fs Single submitter intellectual disability
p.Gln1071Arg Single submitter ⚠
p.Glu365Lys Single submitter
p.Gly250Glu Single submitter ⚠

Conflicting classifications of pathogenicity 3

p.Ala792Val Single submitter ⚠
p.Ala813_Ala814insProAla Single submitter
p.Thr524Met Single submitter ⚠

Benign 5

c.1480+10G>A Multiple submitters
c.660+10C>T Multiple submitters
p.Gln330= Multiple submitters
p.Val563Leu Multiple submitters
p.Pro450= Single submitter

Benign/Likely benign 2

p.Pro198= Multiple submitters
p.Thr771= Multiple submitters

Likely benign 22

p.Glu546Asp Multiple submitters
c.235-1984_235-1983insACACAT Single submitter
c.235-1984_235-1983insACACATAC Single submitter
p.Ala1038Val Single submitter
p.Ala1123Thr Single submitter
p.Gln644Arg Single submitter
p.Gly1145= Single submitter
p.Gly773Ala Single submitter
p.Ile1024= Single submitter
p.Leu316= Single submitter
p.Pro102= Single submitter
p.Pro810Leu Single submitter
p.Ser5= Single submitter
p.Ser560Phe Single submitter
p.Ser630Cys Single submitter
p.Thr255= Single submitter
p.Thr524= Single submitter
p.Thr561Ala Single submitter
p.Thr830= Single submitter
p.Tyr279= Single submitter
p.Val926Leu Single submitter
p.Ser1208Leu No assertion criteria ZMYND8-related disorder

Uncertain significance 154

p.Ala687Val Multiple submitters ⚠
p.Arg744Trp Multiple submitters ⚠
p.Met269Val Multiple submitters ⚠
p.Met449Val Multiple submitters ⚠
p.Ser802Phe Multiple submitters ZMYND8-related disorder ⚠
c.2285-3T>C Single submitter
c.2856+5G>A Single submitter
c.3569-2A>G Single submitter
c.661-2A>T Single submitter
c.882+6T>C Single submitter
p.Ala1025= Single submitter
p.Ala1025Thr Single submitter ⚠
p.Ala282Val Single submitter ⚠
p.Ala520Gly Single submitter ⚠
p.Ala678Pro Single submitter ⚠
p.Ala788Val Single submitter ⚠
p.Ala814Thr Single submitter ⚠
p.Ala931Ser Single submitter ZMYND8-related disorder ⚠
p.Ala931Thr Single submitter ⚠
p.Arg1022Gln Single submitter ⚠
p.Arg1193Gly Single submitter ⚠
p.Arg286Ter Single submitter
p.Arg374Leu Single submitter ⚠
p.Arg442Cys Single submitter ⚠
p.Arg744Gln Single submitter ⚠
p.Arg747Ter Single submitter
p.Arg981Cys Single submitter ⚠
p.Arg981Leu Single submitter ⚠
p.Asn1184Ser Single submitter
p.Asn1214_Thr1215insAsn Single submitter ZMYND8-related neurodevelopmental disorder
p.Asn1214Ser Single submitter ⚠
p.Asn221His Single submitter ⚠
p.Asn50Ser Single submitter ⚠
p.Asp1230Ala Single submitter
p.Asp236Glu Single submitter ⚠
p.Asp318Asn Single submitter ⚠
p.Asp400His Single submitter ⚠
p.Asp708Glu Single submitter ⚠
p.Cys244Arg Single submitter ⚠
p.Cys294Arg Single submitter ⚠
p.Gln1169Glu Single submitter
p.Gln557Glu Single submitter ⚠
p.Gln559His Single submitter ⚠
p.Gln866_Gln872del Single submitter
p.Gln877Ter Single submitter intellectual disability
p.Glu1011Asp Single submitter ⚠
p.Glu1136Gln Single submitter ⚠
p.Glu142Asp Single submitter ⚠
p.Glu219Gln Single submitter ⚠
p.Glu266Ter Single submitter
p.Glu551Leu Single submitter
p.Glu663Asp Single submitter ⚠
p.Glu779Gly Single submitter ⚠
p.Glu986Lys Single submitter ⚠
p.Gly439Cys Single submitter ⚠
p.Gly463Ser Single submitter ⚠
p.Gly505Glu Single submitter ⚠
p.Gly509Ser Single submitter ⚠
p.Gly738Glu Single submitter ⚠
p.Gly773Ser Single submitter ⚠
p.Gly816Glu Single submitter neurodevelopmental disorder ⚠
p.Gly920Glu Single submitter
p.His741Tyr Single submitter ⚠
p.His775Arg Single submitter ⚠
p.Ile1056Met Single submitter ⚠
p.Ile11Met Single submitter
p.Ile245Phe Single submitter ⚠
p.Ile411Val Single submitter ⚠
p.Ile623Thr Single submitter ⚠
p.Ile62Val Single submitter ⚠
p.Ile964Met Single submitter ⚠
p.Leu1223Phe Single submitter ⚠
p.Leu398Gln Single submitter ⚠
p.Leu489fs Single submitter
p.Leu6Phe Single submitter
p.Leu710Pro Single submitter ⚠
p.Lys1052Arg Single submitter ⚠
p.Lys238Glu Single submitter ⚠
p.Lys263Glu Single submitter ⚠
p.Lys376Glu Single submitter ⚠
p.Lys631Met Single submitter ⚠
p.Lys64Gln Single submitter ⚠
p.Lys713Arg Single submitter ⚠
p.Lys759Glu Single submitter ⚠
p.Lys765Glu Single submitter ⚠
p.Lys952Glu Single submitter ⚠
p.Met1009Ile Single submitter ⚠
p.Met1012fs Single submitter
p.Met168Thr Single submitter ⚠
p.Met213Ile Single submitter ⚠
p.Met213Val Single submitter ⚠
p.Met21Val Single submitter
p.Met226Ile Single submitter ⚠
p.Met269Leu Single submitter ⚠
p.Met344Val Single submitter neurodevelopmental disorder ⚠
p.Met454Thr Single submitter ⚠
p.Met486Thr Single submitter ⚠
p.Met922Ile Single submitter ⚠
p.Phe310Leu Single submitter ⚠
p.Phe488Leu Single submitter ⚠
p.Phe576Leu Single submitter ⚠
p.Pro1174Ser Single submitter
p.Pro1181Leu Single submitter
p.Pro312Leu Single submitter ⚠
p.Pro349Ser Single submitter ⚠
p.Pro496Leu Single submitter ⚠
p.Pro562fs Single submitter
p.Pro564Thr Single submitter ⚠
p.Pro656fs Single submitter ZMYND8-associated neurodevelopmental disorder
p.Pro658Arg Single submitter ⚠
p.Pro680Leu Single submitter ⚠
p.Pro680Ser Single submitter ⚠
p.Pro777Leu Single submitter ⚠
p.Pro810Ser Single submitter ⚠
p.Pro812Arg Single submitter ⚠
p.Pro827Arg Single submitter ⚠
p.Ser1111Leu Single submitter ⚠
p.Ser1163Arg Single submitter
p.Ser1208Trp Single submitter
p.Ser445Phe Single submitter ⚠
p.Ser476Trp Single submitter neurodevelopmental disorder
p.Ser482Thr Single submitter ⚠
p.Ser530del Single submitter
p.Ser612Pro Single submitter ⚠
p.Ser702Leu Single submitter ⚠
p.Ser731Asn Single submitter ⚠
p.Ser843fs Single submitter neurodevelopmental disorder
p.Ser913Leu Single submitter ⚠
p.Ser919Leu Single submitter ⚠
p.Ser927Phe Single submitter
p.Thr1129Met Single submitter ⚠
p.Thr1149Met Single submitter ⚠
p.Thr1175Ala Single submitter
p.Thr1217Asn Single submitter ⚠
p.Thr230Lys Single submitter ⚠
p.Thr424Met Single submitter ⚠
p.Thr462Met Single submitter
p.Thr475Met Single submitter ⚠
p.Thr523Met Single submitter ⚠
p.Thr531Ala Single submitter ⚠
p.Thr716Met Single submitter ⚠
p.Thr720Lys Single submitter ⚠
p.Thr770Met Single submitter ⚠
p.Thr771Met Single submitter ⚠
p.Thr796Pro Single submitter ZMYND8-related disorder ⚠
p.Thr799Ser Single submitter ⚠
p.Thr830Ala Single submitter ⚠
p.Trp1061Ter Single submitter
p.Tyr622His Single submitter ⚠
p.Tyr622Ter Single submitter ZMYND8-related neurodevelopmental disorder
p.Val1039Met Single submitter ⚠
p.Val466Met Single submitter ⚠
p.Val838Leu Single submitter
p.Lys433Asn No assertion criteria ZMYND8-related disorder ⚠