DMAP1 — 60 ClinVar variants
All ClinVar germline DMAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Likely pathogenic · 59 Uncertain significance
Full DMAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMAP1 p.Arg283His Uncertain significance Multiple submitters
- DMAP1 p.Ala411Pro Uncertain significance Single submitter
- DMAP1 p.Ala442Thr Uncertain significance Single submitter
-
DMAP1 p.Arg194Gln
Uncertain significance
Single submitter
DMAP1-associated disorder
- DMAP1 p.Arg194Trp Uncertain significance Single submitter
- DMAP1 p.Arg81His Uncertain significance Single submitter
- DMAP1 p.Arg8Trp Uncertain significance Single submitter
- DMAP1 p.Arg93Gln Uncertain significance Single submitter
- DMAP1 p.Asp176Gly Uncertain significance Single submitter
- DMAP1 p.Cys381Tyr Uncertain significance Single submitter
- DMAP1 p.Glu244Asp Uncertain significance Single submitter
- DMAP1 p.Gly23Ala Uncertain significance Single submitter
- DMAP1 p.Gly406Val Uncertain significance Single submitter
- DMAP1 p.His180Gln Uncertain significance Single submitter
- DMAP1 p.Ile174Thr Uncertain significance Single submitter
- DMAP1 p.Ile198Thr Uncertain significance Single submitter
- DMAP1 p.Leu147Phe Uncertain significance Single submitter
- DMAP1 p.Leu428Val Uncertain significance Single submitter
- DMAP1 p.Leu61Phe Uncertain significance Single submitter
- DMAP1 p.Lys201Thr Uncertain significance Single submitter
- DMAP1 p.Lys290Ile Uncertain significance Single submitter
- DMAP1 p.Phe167Leu Uncertain significance Single submitter
- DMAP1 p.Pro467Leu Uncertain significance Single submitter
- DMAP1 p.Thr157Ser Uncertain significance Single submitter
- DMAP1 p.Thr277Ser Uncertain significance Single submitter
- DMAP1 p.Thr409Ala Uncertain significance Single submitter
- DMAP1 p.Thr44Ser Uncertain significance Single submitter
-
DMAP1 p.Trp97Cys
Uncertain significance
Single submitter
intellectual disability
- DMAP1 p.Tyr196Ser Uncertain significance Single submitter
- DMAP1 p.Val172Ala Uncertain significance Single submitter
- DMAP1 p.Val92Ala Uncertain significance Single submitter
-
DMAP1 p.Phe171Leu
Uncertain significance
No assertion criteria
Profound global developmental delay
Predictors split 24
The independent predictors disagree with each other — read with care.
- DMAP1 p.Ala207Thr Uncertain significance Single submitter
- DMAP1 p.Ala2Thr Uncertain significance Single submitter
- DMAP1 p.Arg232His Uncertain significance Single submitter
- DMAP1 p.Arg264Cys Uncertain significance Single submitter
-
DMAP1 p.Arg392Gln
Uncertain significance
Single submitter
DMAP1-related disorder
- DMAP1 p.Arg452Gln Uncertain significance Single submitter
- DMAP1 p.Asn130Ser Uncertain significance Single submitter
- DMAP1 p.Asp149Gly Uncertain significance Single submitter
-
DMAP1 p.Asp267Asn
Uncertain significance
Single submitter
DMAP1-related disorder
- DMAP1 p.Glu231Gln Uncertain significance Single submitter
- DMAP1 p.Gly402Val Uncertain significance Single submitter
- DMAP1 p.His148Tyr Uncertain significance Single submitter
- DMAP1 p.His395Leu Uncertain significance Single submitter
- DMAP1 p.Lys86Arg Uncertain significance Single submitter
- DMAP1 p.Lys86Asn Uncertain significance Single submitter
- DMAP1 p.Ser41Tyr Uncertain significance Single submitter
- DMAP1 p.Thr3Met Uncertain significance Single submitter
- DMAP1 p.Thr445Met Uncertain significance Single submitter
- DMAP1 p.Val137Met Uncertain significance Single submitter
- DMAP1 p.Val205Met Uncertain significance Single submitter
- DMAP1 p.Val241Ala Uncertain significance Single submitter
- DMAP1 p.Val241Met Uncertain significance Single submitter
- DMAP1 p.Val403Met Uncertain significance Single submitter
- DMAP1 p.Val461Met Uncertain significance Single submitter
All DMAP1 variants
Likely pathogenic 1
- p.Glu342fs Single submitter intellectual disability
Uncertain significance 59
- p.Arg283His Multiple submitters ⚠
- c.1344+3A>G Single submitter
- c.394-1G>C Single submitter
- p.Ala207Thr Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala411Pro Single submitter ⚠
- p.Ala442Thr Single submitter ⚠
- p.Arg194Gln Single submitter DMAP1-associated disorder ⚠
- p.Arg194Trp Single submitter ⚠
- p.Arg224Ter Single submitter DMAP1-associated disorder
- p.Arg232His Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg392Gln Single submitter DMAP1-related disorder ⚠
- p.Arg452Gln Single submitter ⚠
- p.Arg81His Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Asn130Ser Single submitter ⚠
- p.Asp149Gly Single submitter ⚠
- p.Asp176Gly Single submitter ⚠
- p.Asp267Asn Single submitter DMAP1-related disorder ⚠
- p.Cys381Tyr Single submitter ⚠
- p.Glu231Gln Single submitter ⚠
- p.Glu244Asp Single submitter ⚠
- p.Gly23Ala Single submitter ⚠
- p.Gly402Val Single submitter ⚠
- p.Gly406Val Single submitter ⚠
- p.His148Tyr Single submitter ⚠
- p.His180Gln Single submitter ⚠
- p.His395Leu Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile198Thr Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Leu428Val Single submitter ⚠
- p.Leu61Phe Single submitter ⚠
- p.Lys201Thr Single submitter ⚠
- p.Lys290Ile Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Lys86Asn Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Pro467Leu Single submitter ⚠
- p.Ser41Tyr Single submitter ⚠
- p.Thr157Ser Single submitter ⚠
- p.Thr277Ser Single submitter ⚠
- p.Thr3Met Single submitter ⚠
- p.Thr409Ala Single submitter ⚠
- p.Thr445Met Single submitter ⚠
- p.Thr44Ser Single submitter ⚠
- p.Trp97Cys Single submitter intellectual disability ⚠
- p.Tyr196Ser Single submitter ⚠
- p.Val137Met Single submitter ⚠
- p.Val172Ala Single submitter ⚠
- p.Val205Met Single submitter ⚠
- p.Val241Ala Single submitter ⚠
- p.Val241Met Single submitter ⚠
- p.Val403Met Single submitter ⚠
- p.Val461Met Single submitter ⚠
- p.Val92Ala Single submitter ⚠
- p.Phe171Leu No assertion criteria Profound global developmental delay ⚠