KDM4C — 171 ClinVar variants

All ClinVar germline KDM4C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

6 Benign · 11 Likely benign · 154 Uncertain significance

Full KDM4C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 114

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

Predictors split 31

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

All KDM4C variants

Benign 6

p.Glu149= Multiple submitters
p.Gly845= Multiple submitters
p.Leu252= Multiple submitters
p.Leu685= Multiple submitters
p.Val866= Multiple submitters
p.Glu206Asp Single submitter

Likely benign 11

p.Ala1036= Single submitter
p.Ala561Thr Single submitter
p.Asp193= Single submitter
p.Asp463Glu Single submitter
p.His535Arg Single submitter
p.Ile811Met Single submitter
p.Lys107= Single submitter
p.Lys449Arg Single submitter
p.Ser506Pro Single submitter
p.Thr637Ala Single submitter
p.Val77= Single submitter

Uncertain significance 154

c.-1G>C Single submitter KDM4C-related disorder
p.Ala418Val Single submitter ⚠
p.Ala419Val Single submitter ⚠
p.Ala427Gly Single submitter ⚠
p.Ala546Val Single submitter ⚠
p.Ala580Val Single submitter ⚠
p.Ala591Val Single submitter ⚠
p.Ala629Thr Single submitter ⚠
p.Ala646Asp Single submitter ⚠
p.Ala774Thr Single submitter Ollier disease
p.Ala779Thr Single submitter ⚠
p.Ala781Glu Single submitter ⚠
p.Ala781Val Single submitter
p.Ala834Asp Single submitter ⚠
p.Ala874Ser Single submitter ⚠
p.Arg1005Gly Single submitter ⚠
p.Arg1055Ile Single submitter ⚠
p.Arg154His Single submitter ⚠
p.Arg220Ter Single submitter
p.Arg27Gly Single submitter ⚠
p.Arg27Trp Single submitter ⚠
p.Arg371Gln Single submitter Maffucci syndrome ⚠
p.Arg43Cys Single submitter
p.Arg475Ser Single submitter ⚠
p.Arg552Ser Single submitter ⚠
p.Arg724Gln Single submitter ⚠
p.Arg814Ser Single submitter ⚠
p.Arg816Trp Single submitter ⚠
p.Arg863Gln Single submitter ⚠
p.Arg893Trp Single submitter ⚠
p.Arg997Gln Single submitter ⚠
p.Asn286Ser Single submitter ⚠
p.Asn30Ser Single submitter ⚠
p.Asn553Ser Single submitter ⚠
p.Asn627Ile Single submitter ⚠
p.Asn664Ser Single submitter ⚠
p.Asn704Ser Single submitter ⚠
p.Asn869Ser Single submitter ⚠
p.Asp1014Asn Single submitter ⚠
p.Asp1037Tyr Single submitter ⚠
p.Asp260Gly Single submitter ⚠
p.Asp320Gly Single submitter ⚠
p.Asp339Gly Single submitter ⚠
p.Asp409Asn Single submitter ⚠
p.Asp469Asn Single submitter ⚠
p.Asp658Glu Single submitter ⚠
p.Asp665Asn Single submitter ⚠
p.Asp710Asn Single submitter ⚠
p.Asp949Asn Single submitter ⚠
p.Cys931Phe Single submitter ⚠
p.Gln1053Arg Single submitter ⚠
p.Gln226Glu Single submitter ⚠
p.Gln332Arg Single submitter ⚠
p.Gln442Arg Single submitter ⚠
p.Gln80Leu Single submitter ⚠
p.Glu28Val Single submitter ⚠
p.Glu462Gly Single submitter ⚠
p.Glu519Asp Single submitter ⚠
p.Glu533Asp Single submitter ⚠
p.Glu54Gln Single submitter ⚠
p.Glu604Gly Single submitter ⚠
p.Glu669Lys Single submitter ⚠
p.Glu688Asp Single submitter ⚠
p.Glu688Gln Single submitter ⚠
p.Glu876Lys Single submitter ⚠
p.Gly1018Val Single submitter ⚠
p.Gly146Val Single submitter ⚠
p.Gly337Arg Single submitter ⚠
p.Gly522Val Single submitter ⚠
p.Gly799Val Single submitter ⚠
p.Gly830Ser Single submitter ⚠
p.Gly959Arg Single submitter ⚠
p.His535Asn Single submitter ⚠
p.His735Tyr Single submitter ⚠
p.His837Arg Single submitter ⚠
p.Ile1016Val Single submitter ⚠
p.Ile133Val Single submitter ⚠
p.Ile170Val Single submitter
p.Ile271Met Single submitter
p.Ile271Phe Single submitter ⚠
p.Ile317Phe Single submitter ⚠
p.Ile340Val Single submitter ⚠
p.Ile448Val Single submitter ⚠
p.Ile464Val Single submitter ⚠
p.Ile480Val Single submitter ⚠
p.Ile560Lys Single submitter ⚠
p.Ile737Met Single submitter ⚠
p.Ile73Val Single submitter ⚠
p.Leu178Val Single submitter ⚠
p.Leu46Val Single submitter ⚠
p.Leu586Val Single submitter ⚠
p.Leu685Val Single submitter ⚠
p.Leu68Phe Single submitter ⚠
p.Lys1054Arg Single submitter ⚠
p.Lys125Asn Single submitter ⚠
p.Lys415Gln Single submitter ⚠
p.Lys747Thr Single submitter ⚠
p.Lys871Asn Single submitter ⚠
p.Met23Thr Single submitter ⚠
p.Met319Val Single submitter ⚠
p.Phe917Ser Single submitter ⚠
p.Pro230Arg Single submitter ⚠
p.Pro328Ser Single submitter ⚠
p.Pro354Leu Single submitter ⚠
p.Pro478Thr Single submitter ⚠
p.Pro548Arg Single submitter ⚠
p.Pro583Ala Single submitter ⚠
p.Pro657Ser Single submitter ⚠
p.Pro687Gln Single submitter ⚠
p.Pro702Ala Single submitter ⚠
p.Pro702Arg Single submitter ⚠
p.Pro702Ser Single submitter ⚠
p.Pro791Leu Single submitter ⚠
p.Ser233Cys Single submitter ⚠
p.Ser250Leu Single submitter ⚠
p.Ser378Ala Single submitter ⚠
p.Ser380Cys Single submitter ⚠
p.Ser433Leu Single submitter ⚠
p.Ser451Pro Single submitter ⚠
p.Ser457Asn Single submitter ⚠
p.Ser459Tyr Single submitter ⚠
p.Ser481Cys Single submitter ⚠
p.Ser487Cys Single submitter ⚠
p.Ser491Cys Single submitter ⚠
p.Ser503Phe Single submitter ⚠
p.Ser520Thr Single submitter ⚠
p.Ser559Gly Single submitter ⚠
p.Ser659Gly Single submitter ⚠
p.Ser717Cys Single submitter ⚠
p.Ser835Phe Single submitter ⚠
p.Ser896Arg Single submitter ⚠
p.Thr1042Ile Single submitter ⚠
p.Thr186Met Single submitter ⚠
p.Thr346Met Single submitter ⚠
p.Thr379Ile Single submitter ⚠
p.Thr525Ile Single submitter ⚠
p.Thr610Arg Single submitter ⚠
p.Thr712Ala Single submitter ⚠
p.Thr788Ile Single submitter ⚠
p.Thr884Met Single submitter ⚠
p.Thr887Lys Single submitter ⚠
p.Trp507Gly Single submitter ⚠
p.Tyr275Cys Single submitter ⚠
p.Tyr331Cys Single submitter ⚠
p.Tyr4Cys Single submitter Ollier disease
p.Tyr953Cys Single submitter ⚠
p.Val356Glu Single submitter ⚠
p.Val440Met Single submitter ⚠
p.Val460Ala Single submitter ⚠
p.Val675Leu Single submitter ⚠
p.Val723Ile Single submitter ⚠
p.Val846Ile Single submitter ⚠
p.Val870Met Single submitter ⚠
p.Ile962_His964del No assertion criteria KDM4C-related disorder