DNAJC17 — 248 ClinVar variants
All ClinVar germline DNAJC17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →
2 Conflicting · 6 Benign · 103 Likely benign · 137 Uncertain significance
Full DNAJC17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 116
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNAJC17 p.Ala23Glu Uncertain significance Multiple submitters
- DNAJC17 p.Ala35Thr Uncertain significance Multiple submitters
- DNAJC17 p.Arg103Trp Uncertain significance Multiple submitters
- DNAJC17 p.Arg151Leu Uncertain significance Multiple submitters
- DNAJC17 p.Cys179Tyr Uncertain significance Multiple submitters
- DNAJC17 p.Leu36Phe Uncertain significance Multiple submitters
- DNAJC17 p.Lys161Arg Uncertain significance Multiple submitters
- DNAJC17 p.Lys225Glu Uncertain significance Multiple submitters
- DNAJC17 p.Pro302Ala Uncertain significance Multiple submitters
- DNAJC17 p.Pro302Ser Uncertain significance Multiple submitters
- DNAJC17 p.Ser112Arg Uncertain significance Multiple submitters
- DNAJC17 p.Ser120Gly Uncertain significance Multiple submitters
- DNAJC17 p.Val193Ile Uncertain significance Multiple submitters
- DNAJC17 p.Ala227Val Uncertain significance Single submitter
- DNAJC17 p.Ala23Thr Uncertain significance Single submitter
- DNAJC17 p.Ala49Gly Uncertain significance Single submitter
- DNAJC17 p.Arg119Gln Uncertain significance Single submitter
- DNAJC17 p.Arg137Pro Uncertain significance Single submitter
- DNAJC17 p.Arg147Gln Uncertain significance Single submitter
- DNAJC17 p.Arg257Cys Uncertain significance Single submitter
- DNAJC17 p.Arg257His Uncertain significance Single submitter
- DNAJC17 p.Arg271Gly Uncertain significance Single submitter
- DNAJC17 p.Arg271Lys Uncertain significance Single submitter
- DNAJC17 p.Arg282His Uncertain significance Single submitter
- DNAJC17 p.Arg287Trp Uncertain significance Single submitter
- DNAJC17 p.Gln108Arg Uncertain significance Single submitter
- DNAJC17 p.Gln138Lys Uncertain significance Single submitter
- DNAJC17 p.Glu111Lys Uncertain significance Single submitter
- DNAJC17 p.Glu26Lys Uncertain significance Single submitter
- DNAJC17 p.Glu300Gln Uncertain significance Single submitter
- DNAJC17 p.Gly169Glu Uncertain significance Single submitter
- DNAJC17 p.Gly215Asp Uncertain significance Single submitter
- DNAJC17 p.Gly301Arg Uncertain significance Single submitter
- DNAJC17 p.His259Pro Uncertain significance Single submitter
- DNAJC17 p.Leu100Gln Uncertain significance Single submitter
- DNAJC17 p.Leu124Pro Uncertain significance Single submitter
- DNAJC17 p.Leu209Val Uncertain significance Single submitter
- DNAJC17 p.Leu262Pro Uncertain significance Single submitter
- DNAJC17 p.Leu8Ser Uncertain significance Single submitter
- DNAJC17 p.Met294Leu Uncertain significance Single submitter
- DNAJC17 p.Phe53Leu Uncertain significance Single submitter
- DNAJC17 p.Ser120Asn Uncertain significance Single submitter
- DNAJC17 p.Ser211Thr Uncertain significance Single submitter
- DNAJC17 p.Thr123Ala Uncertain significance Single submitter
- DNAJC17 p.Thr304Ala Uncertain significance Single submitter
- DNAJC17 p.Thr304Arg Uncertain significance Single submitter
- DNAJC17 p.Tyr31Cys Uncertain significance Single submitter
- DNAJC17 p.Val224Asp Uncertain significance Single submitter
- DNAJC17 p.Val224Ile Uncertain significance Single submitter
- DNAJC17 p.Val277Ile Uncertain significance Single submitter
- DNAJC17 p.Val96Leu Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- DNAJC17 p.Arg105Trp Uncertain significance Multiple submitters
- DNAJC17 p.Arg119Trp Uncertain significance Multiple submitters
- DNAJC17 p.Arg151Cys Uncertain significance Multiple submitters
- DNAJC17 p.Arg151Pro Uncertain significance Multiple submitters
- DNAJC17 p.Arg157Ser Uncertain significance Multiple submitters
- DNAJC17 p.Arg196Trp Uncertain significance Multiple submitters
- DNAJC17 p.Asp155Asn Benign Multiple submitters
- DNAJC17 p.Gln58Arg Uncertain significance Multiple submitters
- DNAJC17 p.Glu129Lys Uncertain significance Multiple submitters
- DNAJC17 p.Glu26Gln Uncertain significance Multiple submitters
- DNAJC17 p.Glu286Gln Uncertain significance Multiple submitters
- DNAJC17 p.Glu6Asp Uncertain significance Multiple submitters
- DNAJC17 p.Val204Leu Benign Multiple submitters
- DNAJC17 p.Ala66Gly Uncertain significance Single submitter
- DNAJC17 p.Ala70Val Uncertain significance Single submitter
- DNAJC17 p.Ala71Thr Uncertain significance Single submitter
- DNAJC17 p.Arg103Gln Uncertain significance Single submitter
- DNAJC17 p.Arg105Gln Uncertain significance Single submitter
- DNAJC17 p.Arg130Cys Uncertain significance Single submitter
- DNAJC17 p.Arg130His Uncertain significance Single submitter
- DNAJC17 p.Arg137Gln Uncertain significance Single submitter
- DNAJC17 p.Arg137Trp Uncertain significance Single submitter
- DNAJC17 p.Arg151Gly Uncertain significance Single submitter
- DNAJC17 p.Arg151His Uncertain significance Single submitter
- DNAJC17 p.Arg154Cys Uncertain significance Single submitter
- DNAJC17 p.Arg154His Uncertain significance Single submitter
- DNAJC17 p.Arg157Thr Uncertain significance Single submitter
- DNAJC17 p.Arg293Gly Uncertain significance Single submitter
- DNAJC17 p.Asn206Lys Uncertain significance Single submitter
- DNAJC17 p.Asp298Asn Uncertain significance Single submitter
- DNAJC17 p.Asp65Asn Likely benign Single submitter
- DNAJC17 p.Gln126Lys Uncertain significance Single submitter
- DNAJC17 p.Gln288Pro Uncertain significance Single submitter
- DNAJC17 p.Gln296Pro Uncertain significance Single submitter
- DNAJC17 p.Gln55Arg Uncertain significance Single submitter
- DNAJC17 p.Gln87Pro Uncertain significance Single submitter
- DNAJC17 p.Glu113Lys Uncertain significance Single submitter
- DNAJC17 p.Glu153Gln Uncertain significance Single submitter
- DNAJC17 p.Glu20Ala Uncertain significance Single submitter
- DNAJC17 p.Glu274Asp Uncertain significance Single submitter
- DNAJC17 p.Glu286Lys Uncertain significance Single submitter
- DNAJC17 p.Glu61Asp Uncertain significance Single submitter
- DNAJC17 p.Glu6Ala Uncertain significance Single submitter
- DNAJC17 p.Gly17Ser Uncertain significance Single submitter
- DNAJC17 p.Gly188Asp Uncertain significance Single submitter
- DNAJC17 p.Gly265Val Uncertain significance Single submitter
- DNAJC17 p.Ile18Met Uncertain significance Single submitter
- DNAJC17 p.Leu15Met Uncertain significance Single submitter
- DNAJC17 p.Leu237Val Uncertain significance Single submitter
- DNAJC17 p.Leu98Pro Uncertain significance Single submitter
- DNAJC17 p.Lys178Asn Uncertain significance Single submitter
- DNAJC17 p.Lys181Arg Uncertain significance Single submitter
- DNAJC17 p.Lys213Glu Uncertain significance Single submitter
- DNAJC17 p.Lys74Glu Uncertain significance Single submitter
- DNAJC17 p.Lys77Glu Uncertain significance Single submitter
- DNAJC17 p.Lys92Glu Uncertain significance Single submitter
- DNAJC17 p.Lys95Glu Uncertain significance Single submitter
- DNAJC17 p.Lys97Arg Uncertain significance Single submitter
- DNAJC17 p.Ser210Pro Uncertain significance Single submitter
- DNAJC17 p.Ser266Leu Uncertain significance Single submitter
- DNAJC17 p.Thr121Ile Uncertain significance Single submitter
- DNAJC17 p.Tyr273Ser Uncertain significance Single submitter
- DNAJC17 p.Val204Ile Uncertain significance Single submitter
All DNAJC17 variants
Conflicting classifications of pathogenicity 2
- p.Ala83Val Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
Benign 6
- p.Asp155Asn Multiple submitters ⚠
- p.Asp192= Multiple submitters
- p.Glu117Ala Multiple submitters
- p.Val204Leu Multiple submitters ⚠
- c.148+19C>T Single submitter
- c.208-7C>A Single submitter
Likely benign 103
- c.148+10T>G Single submitter
- c.148+12dup Single submitter
- c.148+20G>A Single submitter
- c.148+7C>G Single submitter
- c.149-11C>T Single submitter
- c.149-14A>T Single submitter
- c.149-15G>T Single submitter
- c.149-6G>A Single submitter
- c.149-7T>C Single submitter
- c.149-9del Single submitter
- c.207+15dup Single submitter
- c.207+9A>G Single submitter
- c.208-17C>G Single submitter
- c.295+10A>T Single submitter
- c.295+14T>C Single submitter
- c.296-19A>G Single submitter
- c.296-7T>C Single submitter
- c.381+20G>A Single submitter
- c.382-11C>G Single submitter
- c.382-12C>A Single submitter
- c.382-14C>T Single submitter
- c.382-18_382-17del Single submitter
- c.478+18C>T Single submitter
- c.478+19G>A Single submitter
- c.479-19_479-17del Single submitter
- c.479-6T>G Single submitter
- c.600+15C>T Single submitter
- c.600+16G>A Single submitter
- c.600+18C>T Single submitter
- c.600+19C>T Single submitter
- c.601-15C>G Single submitter
- c.601-16C>G Single submitter
- c.601-17C>T Single submitter
- c.681+16G>A Single submitter
- c.681+17del Single submitter
- c.681+7G>T Single submitter
- c.682-18A>T Single submitter
- c.78+13G>T Single submitter
- c.78+8C>T Single submitter
- c.78+9G>A Single submitter
- c.79-14T>C Single submitter
- c.79-7C>G Single submitter
- c.792+11A>G Single submitter
- c.792+13G>A Single submitter
- c.792+14C>T Single submitter
- c.792+18G>A Single submitter
- c.792+18G>T Single submitter
- c.793-10T>C Single submitter
- c.793-12C>G Single submitter
- c.793-16_793-6del Single submitter
- c.793-16C>T Single submitter
- c.793-30_793-14del Single submitter
- c.793-5G>A Single submitter
- c.793-6C>G Single submitter
- p.Ala23= Single submitter
- p.Ala284= Single submitter
- p.Ala285= Single submitter
- p.Ala30= Single submitter
- p.Ala70= Single submitter
- p.Arg119= Single submitter
- p.Arg196= Single submitter
- p.Arg257= Single submitter
- p.Arg282= Single submitter
- p.Asn206= Single submitter
- p.Asp65= Single submitter
- p.Asp65Asn Single submitter ⚠
- p.Asp73= Single submitter
- p.Cys38= Single submitter
- p.Gln299= Single submitter
- p.Gln87= Single submitter
- p.Glu104= Single submitter
- p.Glu117= Single submitter
- p.Glu125= Single submitter
- p.Glu140= Single submitter
- p.Glu153= Single submitter
- p.Glu184= Single submitter
- p.Glu228= Single submitter
- p.Glu61= Single submitter
- p.Gly135= Single submitter
- p.Gly249= Single submitter
- p.Gly301= Single submitter
- p.Ile128= Single submitter
- p.Ile291= Single submitter
- p.Leu139= Single submitter
- p.Leu15= Single submitter
- p.Leu173= Single submitter
- p.Leu268= Single submitter
- p.Leu290= Single submitter
- p.Leu36= Single submitter
- p.Leu63= Single submitter
- p.Lys88= Single submitter
- p.Met278Val Single submitter
- p.Pro303= Single submitter
- p.Pro40= Single submitter
- p.Ser269= Single submitter
- p.Ser275= Single submitter
- p.Thr165= Single submitter
- p.Thr216= Single submitter
- p.Thr223= Single submitter
- p.Thr304= Single submitter
- p.Thr64= Single submitter
- p.Val238= Single submitter
- p.Val27= Single submitter
Uncertain significance 137
- p.Ala227= Multiple submitters hydrocephalus, nonsyndromic, autosomal recessive 1
- p.Ala23Glu Multiple submitters ⚠
- p.Ala35Thr Multiple submitters ⚠
- p.Arg103Trp Multiple submitters ⚠
- p.Arg105Trp Multiple submitters ⚠
- p.Arg119Trp Multiple submitters ⚠
- p.Arg151Cys Multiple submitters ⚠
- p.Arg151Leu Multiple submitters ⚠
- p.Arg151Pro Multiple submitters ⚠
- p.Arg157Ser Multiple submitters ⚠
- p.Arg196Trp Multiple submitters ⚠
- p.Cys179Tyr Multiple submitters ⚠
- p.Gln58Arg Multiple submitters ⚠
- p.Glu129Lys Multiple submitters ⚠
- p.Glu26Gln Multiple submitters ⚠
- p.Glu286Gln Multiple submitters ⚠
- p.Glu6Asp Multiple submitters ⚠
- p.Leu36Phe Multiple submitters ⚠
- p.Lys161Arg Multiple submitters ⚠
- p.Lys225Glu Multiple submitters ⚠
- p.Pro302Ala Multiple submitters ⚠
- p.Pro302Ser Multiple submitters ⚠
- p.Ser112Arg Multiple submitters ⚠
- p.Ser120Gly Multiple submitters ⚠
- p.Val193Ile Multiple submitters ⚠
- c.295+4G>C Single submitter
- c.296-14A>G Single submitter
- c.381+5G>A Single submitter
- c.381+6C>T Single submitter
- c.382-12C>G Single submitter
- c.382-13C>G Single submitter
- c.382-7T>G Single submitter
- c.479-10A>G Single submitter
- c.522+2T>G Single submitter
- c.523-18A>T Single submitter
- c.600+3C>T Single submitter
- c.600+4G>A Single submitter
- c.601-1G>A Single submitter
- c.793-27_793-11del Single submitter
- p.Ala227Val Single submitter ⚠
- p.Ala23Lys Single submitter
- p.Ala23Thr Single submitter ⚠
- p.Ala284_Ala285insSerLeuValMetMetArgMetArgGlnAla Single submitter
- p.Ala49Gly Single submitter ⚠
- p.Ala66Gly Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg137Pro Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg151Gly Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg154His Single submitter ⚠
- p.Arg157Thr Single submitter ⚠
- p.Arg159= Single submitter
- p.Arg257Cys Single submitter ⚠
- p.Arg257His Single submitter ⚠
- p.Arg271fs Single submitter
- p.Arg271Gly Single submitter ⚠
- p.Arg271Lys Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg287Trp Single submitter ⚠
- p.Arg293Gly Single submitter ⚠
- p.Arg93fs Single submitter
- p.Asn206Lys Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Gln108Arg Single submitter ⚠
- p.Gln110_Glu111insAlaGln Single submitter
- p.Gln126Lys Single submitter ⚠
- p.Gln138Lys Single submitter ⚠
- p.Gln288Pro Single submitter ⚠
- p.Gln296Pro Single submitter ⚠
- p.Gln55Arg Single submitter ⚠
- p.Gln87Pro Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu153Gln Single submitter ⚠
- p.Glu20Ala Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Glu274Asp Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu300Gln Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Glu61del Single submitter
- p.Glu6Ala Single submitter ⚠
- p.Gly169Glu Single submitter ⚠
- p.Gly17Ser Single submitter ⚠
- p.Gly188Asp Single submitter ⚠
- p.Gly215Asp Single submitter ⚠
- p.Gly265Val Single submitter ⚠
- p.Gly301Arg Single submitter ⚠
- p.His259Pro Single submitter ⚠
- p.Ile18Met Single submitter ⚠
- p.Leu100Gln Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Leu15Met Single submitter ⚠
- p.Leu209Val Single submitter ⚠
- p.Leu237Val Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu8Ser Single submitter ⚠
- p.Leu98Pro Single submitter ⚠
- p.Lys178Asn Single submitter ⚠
- p.Lys181Arg Single submitter ⚠
- p.Lys213Glu Single submitter ⚠
- p.Lys74Glu Single submitter ⚠
- p.Lys77Glu Single submitter ⚠
- p.Lys92Glu Single submitter ⚠
- p.Lys95Glu Single submitter ⚠
- p.Lys97Arg Single submitter ⚠
- p.Met294Leu Single submitter ⚠
- p.Phe53Leu Single submitter ⚠
- p.Pro302fs Single submitter
- p.Ser120Asn Single submitter ⚠
- p.Ser210Pro Single submitter ⚠
- p.Ser211Thr Single submitter ⚠
- p.Ser266Leu Single submitter ⚠
- p.Ter305Tyr Single submitter
- p.Thr121Ile Single submitter ⚠
- p.Thr123Ala Single submitter ⚠
- p.Thr304Ala Single submitter ⚠
- p.Thr304Arg Single submitter ⚠
- p.Tyr273del Single submitter
- p.Tyr273Ser Single submitter ⚠
- p.Tyr31Cys Single submitter ⚠
- p.Tyr72fs Single submitter
- p.Val204Ile Single submitter ⚠
- p.Val224Asp Single submitter ⚠
- p.Val224Ile Single submitter ⚠
- p.Val277Ile Single submitter ⚠
- p.Val96Leu Single submitter ⚠