DNAJC19 — 163 ClinVar variants
All ClinVar germline DNAJC19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
10 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 10 Benign · 3 Benign/Likely benign · 71 Likely benign · 54 Uncertain significance
Full DNAJC19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAJC19 p.Arg61Trp
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAJC19 p.Arg20Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Gly68Asp
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Ile66Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Ile99Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Ala106Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Ala63Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Arg83Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Asn74Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Asp108Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Gly48Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Gly68Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
- DNAJC19 p.Gly94Val Uncertain significance Single submitter
-
DNAJC19 p.Gly9Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.His28Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.His82Gln
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Leu109Ser
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Lys115Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Pro97Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Ser46Gly
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Thr11Ile
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Tyr49His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Tyr98His
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 21
The independent predictors disagree with each other — read with care.
-
DNAJC19 p.Ala25Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Ala73Thr
Uncertain significance
Multiple submitters
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Arg84Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Gly68Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Val22Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAJC19 p.Ala14Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Ala2Thr
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Arg20His
Conflicting
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Arg61Gln
Conflicting
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Arg84Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Asn104Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Glu111Ala
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Glu111Gln
Conflicting
Single submitter
Inborn genetic diseases
-
DNAJC19 p.Glu111Lys
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Gly76Arg
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Leu109Val
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Leu87Phe
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Lys77Glu
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
-
DNAJC19 p.Pro56His
Uncertain significance
Single submitter
3-methylglutaconic aciduria type 5
- DNAJC19 p.Ser46Ile Uncertain significance Single submitter
-
DNAJC19 p.Tyr21Phe
Uncertain significance
Single submitter
3-methylglutaconic aciduria
All DNAJC19 variants
Pathogenic 10
- c.130-1G>C Multiple submitters 3-methylglutaconic aciduria type 5
- p.Tyr21Ter Multiple submitters 3-methylglutaconic aciduria type 5
- p.Arg84Ter Single submitter 3-methylglutaconic aciduria type 5
- p.Leu10fs Single submitter 3-methylglutaconic aciduria type 5
- p.Leu87_Leu88insTer Single submitter 3-methylglutaconic aciduria type 5
- p.Lys34fs Single submitter 3-methylglutaconic aciduria type 5
- p.Lys57fs Single submitter 3-methylglutaconic aciduria type 5
- p.Phe17fs Single submitter 3-methylglutaconic aciduria type 5
- p.Pro41fs Single submitter 3-methylglutaconic aciduria type 5
- p.Ala101fs No assertion criteria 3-methylglutaconic aciduria type 5
Pathogenic/Likely pathogenic 2
- c.55+1G>A Multiple submitters 3-methylglutaconic aciduria type 5
- p.Arg20_Tyr21insTer Multiple submitters 3-methylglutaconic aciduria type 5
Likely pathogenic 8
- c.280+1_280+5del Multiple submitters 3-methylglutaconic aciduria type 5
- c.4-1G>A Multiple submitters 3-methylglutaconic aciduria type 5
- c.129+1G>A Single submitter 3-methylglutaconic aciduria type 5
- c.210-2A>G Single submitter 3-methylglutaconic aciduria type 5
- c.281-2A>C Single submitter 3-methylglutaconic aciduria type 5
- c.4-24_15del Single submitter 3-methylglutaconic aciduria type 5
- p.Tyr98fs Single submitter
- p.Gly53Glu No assertion criteria 3-methylglutaconic aciduria type 5
Conflicting classifications of pathogenicity 5
- c.280+2dup Single submitter 3-methylglutaconic aciduria type 5
- p.Arg20His Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Arg61Gln Single submitter Inborn genetic diseases ⚠
- p.Arg61Trp Single submitter Inborn genetic diseases ⚠
- p.Glu111Gln Single submitter Inborn genetic diseases ⚠
Benign 10
- c.210-7T>A Multiple submitters 3-methylglutaconic aciduria type 5
- c.281-12T>C Multiple submitters 3-methylglutaconic aciduria type 5
- c.*188G>A Multiple submitters
- c.210-296_210-295insC Single submitter
- c.210-305dup Single submitter
- c.281-15dup Single submitter 3-methylglutaconic aciduria type 5
- c.4-128A>G Single submitter
- c.4-129_4-128insG Single submitter
- c.4-143dup Single submitter
- c.-29G>T Single submitter
Benign/Likely benign 3
Likely benign 71
- c.129+15A>C Multiple submitters 3-methylglutaconic aciduria type 5
- c.130-292T>C Multiple submitters
- c.210-18A>G Multiple submitters 3-methylglutaconic aciduria type 5
- c.210-19C>T Multiple submitters 3-methylglutaconic aciduria type 5
- c.3+16C>T Multiple submitters 3-methylglutaconic aciduria type 5
- p.Ala64= Multiple submitters 3-methylglutaconic aciduria type 5
- p.Glu30= Multiple submitters 3-methylglutaconic aciduria type 5
- p.Tyr21= Multiple submitters 3-methylglutaconic aciduria type 5
- c.129+11G>T Single submitter 3-methylglutaconic aciduria type 5
- c.129+12T>C Single submitter 3-methylglutaconic aciduria type 5
- c.129+7C>T Single submitter 3-methylglutaconic aciduria type 5
- c.130-38_130-34del Single submitter
- c.130-4T>C Single submitter 3-methylglutaconic aciduria type 5
- c.209+11C>A Single submitter 3-methylglutaconic aciduria type 5
- c.209+11C>T Single submitter 3-methylglutaconic aciduria type 5
- c.209+18_209+22del Single submitter 3-methylglutaconic aciduria type 5
- c.209+19T>C Single submitter 3-methylglutaconic aciduria type 5
- c.209+20T>C Single submitter 3-methylglutaconic aciduria type 5
- c.209+7T>A Single submitter 3-methylglutaconic aciduria type 5
- c.209+9_209+13del Single submitter 3-methylglutaconic aciduria type 5
- c.209+95C>G Single submitter
- c.210-12T>A Single submitter 3-methylglutaconic aciduria type 5
- c.210-14_210-13del Single submitter 3-methylglutaconic aciduria type 5
- c.210-15T>C Single submitter 3-methylglutaconic aciduria type 5
- c.210-17T>C Single submitter 3-methylglutaconic aciduria type 5
- c.210-291del Single submitter
- c.210-4T>C Single submitter 3-methylglutaconic aciduria type 5
- c.280+129G>A Single submitter
- c.280+12T>C Single submitter 3-methylglutaconic aciduria type 5
- c.280+15A>C Single submitter 3-methylglutaconic aciduria type 5
- c.280+16A>T Single submitter 3-methylglutaconic aciduria type 5
- c.280+19C>A Single submitter 3-methylglutaconic aciduria type 5
- c.280+7A>G Single submitter 3-methylglutaconic aciduria type 5
- c.281-15T>G Single submitter 3-methylglutaconic aciduria type 5
- c.281-16_281-15del Single submitter 3-methylglutaconic aciduria type 5
- c.281-160A>T Single submitter
- c.281-21_281-19del Single submitter 3-methylglutaconic aciduria type 5
- c.281-21_281-20del Single submitter 3-methylglutaconic aciduria type 5
- c.281-4A>G Single submitter 3-methylglutaconic aciduria type 5
- c.281-5T>A Single submitter 3-methylglutaconic aciduria type 5
- c.3+11C>A Single submitter 3-methylglutaconic aciduria type 5
- c.3+13T>C Single submitter 3-methylglutaconic aciduria type 5
- c.3+7G>T Single submitter 3-methylglutaconic aciduria type 5
- c.4-128_4-127insG Single submitter
- c.4-12C>A Single submitter 3-methylglutaconic aciduria type 5
- c.55+10T>C Single submitter 3-methylglutaconic aciduria type 5
- c.55+20A>T Single submitter 3-methylglutaconic aciduria type 5
- c.56-12T>C Single submitter 3-methylglutaconic aciduria type 5
- c.56-17G>C Single submitter 3-methylglutaconic aciduria type 5
- c.56-7G>T Single submitter 3-methylglutaconic aciduria type 5
- p.Ala15= Single submitter 3-methylglutaconic aciduria type 5
- p.Ala44= Single submitter 3-methylglutaconic aciduria type 5
- p.Ala7= Single submitter 3-methylglutaconic aciduria type 5
- p.Ala73= Single submitter 3-methylglutaconic aciduria type 5
- p.Arg79= Single submitter 3-methylglutaconic aciduria type 5
- p.Gln35= Single submitter 3-methylglutaconic aciduria type 5
- p.Glu111= Single submitter 3-methylglutaconic aciduria type 5
- p.Gly19= Single submitter 3-methylglutaconic aciduria type 5
- p.Gly53= Single submitter 3-methylglutaconic aciduria type 5
- p.His28= Single submitter 3-methylglutaconic aciduria type 5
- p.Leu10= Single submitter 3-methylglutaconic aciduria type 5
- p.Leu40= Single submitter 3-methylglutaconic aciduria type 5
- p.Lys115= Single submitter 3-methylglutaconic aciduria type 5
- p.Lys116= Single submitter 3-methylglutaconic aciduria type 5
- p.Phe37= Single submitter 3-methylglutaconic aciduria type 5
- p.Pro91= Single submitter 3-methylglutaconic aciduria type 5
- p.Ser96= Single submitter 3-methylglutaconic aciduria type 5
- p.Tyr50= Single submitter 3-methylglutaconic aciduria type 5
- p.Tyr98= Single submitter 3-methylglutaconic aciduria type 5
- c.281-4A>T No assertion criteria DNAJC19-related disorder
- p.Ser43= No assertion criteria DNAJC19-related disorder
Uncertain significance 54
- p.Ala25Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala73Thr Multiple submitters 3-methylglutaconic aciduria type 5 ⚠
- p.Arg20Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg84Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly68Asp Multiple submitters 3-methylglutaconic aciduria type 5 ⚠
- p.Gly68Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile66Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile99Val Multiple submitters Inborn genetic diseases ⚠
- p.Val22Ile Multiple submitters Inborn genetic diseases ⚠
- c.129+6A>G Single submitter 3-methylglutaconic aciduria type 5
- c.210-14_210-11del Single submitter 3-methylglutaconic aciduria type 5
- c.280+1G>A Single submitter 3-methylglutaconic aciduria type 5
- c.280+3A>G Single submitter 3-methylglutaconic aciduria type 5
- c.280+4_280+7del Single submitter 3-methylglutaconic aciduria type 5
- c.280+5G>C Single submitter 3-methylglutaconic aciduria type 5
- c.55+5G>C Single submitter 3-methylglutaconic aciduria type 5
- p.Ala106Thr Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Ala14Val Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Ala2Thr Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Ala63Val Single submitter Inborn genetic diseases ⚠
- p.Arg83Gln Single submitter Inborn genetic diseases ⚠
- p.Arg84Leu Single submitter Inborn genetic diseases ⚠
- p.Asn104Ser Single submitter Inborn genetic diseases ⚠
- p.Asn74Ser Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Asp108Gly Single submitter Inborn genetic diseases ⚠
- p.Glu111Ala Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Glu111Lys Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Gly48Ser Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Gly68Val Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Gly76Arg Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Gly94Val Single submitter ⚠
- p.Gly9Val Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.His28Arg Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.His82Gln Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Ile103fs Single submitter 3-methylglutaconic aciduria type 5
- p.Ile99fs Single submitter 3-methylglutaconic aciduria type 5
- p.Leu109Ser Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Leu109Val Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Leu67fs Single submitter
- p.Leu87Phe Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Lys115Arg Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Lys116fs Single submitter 3-methylglutaconic aciduria type 5
- p.Lys77Glu Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Met1Thr Single submitter 3-methylglutaconic aciduria type 5
- p.Met1Val Single submitter 3-methylglutaconic aciduria type 5
- p.Pro41_Lys42del Single submitter 3-methylglutaconic aciduria type 5
- p.Pro56His Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Pro97Leu Single submitter Inborn genetic diseases ⚠
- p.Ser46Gly Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Ser46Ile Single submitter ⚠
- p.Thr11Ile Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Tyr21Phe Single submitter 3-methylglutaconic aciduria ⚠
- p.Tyr49His Single submitter 3-methylglutaconic aciduria type 5 ⚠
- p.Tyr98His Single submitter Inborn genetic diseases ⚠