DHX58 — 124 ClinVar variants

All ClinVar germline DHX58 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

1 Benign · 7 Likely benign · 116 Uncertain significance

Full DHX58 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 lean, ClinVar uncertain 50

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

Predictors split 66

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

All DHX58 variants

Benign 1

p.Gln425Arg Multiple submitters

Likely benign 7

p.Arg334His Single submitter
p.Arg544Gln Single submitter
p.Asp475Gly Single submitter
p.Gln158Ter Single submitter
p.Gln277Arg Single submitter ⚠
p.Ser379= Single submitter
p.Ser477fs Single submitter

Uncertain significance 116

p.Ala110Thr Single submitter ⚠
p.Ala302Pro Single submitter ⚠
p.Ala304Val Single submitter ⚠
p.Ala342Val Single submitter ⚠
p.Ala35Val Single submitter ⚠
p.Ala480Gly Single submitter ⚠
p.Ala480Thr Single submitter ⚠
p.Ala483Val Single submitter ⚠
p.Ala534Val Single submitter ⚠
p.Arg156Met Single submitter ⚠
p.Arg224His Single submitter ⚠
p.Arg286His Single submitter ⚠
p.Arg325His Single submitter ⚠
p.Arg32Gln Single submitter ⚠
p.Arg375Cys Single submitter ⚠
p.Arg377Cys Single submitter ⚠
p.Arg377His Single submitter ⚠
p.Arg399Pro Single submitter ⚠
p.Arg399Trp Single submitter ⚠
p.Arg40Trp Single submitter ⚠
p.Arg455His Single submitter ⚠
p.Arg471Cys Single submitter ⚠
p.Arg473Gln Single submitter ⚠
p.Arg488Gln Single submitter ⚠
p.Arg492Gln Single submitter ⚠
p.Arg533Trp Single submitter ⚠
p.Arg540Gln Single submitter ⚠
p.Arg544Trp Single submitter ⚠
p.Arg570Trp Single submitter ⚠
p.Arg636His Single submitter ⚠
p.Arg69Cys Single submitter ⚠
p.Arg69Ser Single submitter ⚠
p.Arg74His Single submitter ⚠
p.Asn542Lys Single submitter ⚠
p.Asn579His Single submitter ⚠
p.Asp179Asn Single submitter ⚠
p.Asp179Gly Single submitter ⚠
p.Asp238Gly Single submitter ⚠
p.Asp475His Single submitter ⚠
p.Asp603Tyr Single submitter ⚠
p.Cys189Tyr Single submitter ⚠
p.Gln226fs Single submitter DHX58-associated Neurodevelopmental disorder
p.Gln277Pro Single submitter ⚠
p.Gln319Glu Single submitter ⚠
p.Gln505Glu Single submitter ⚠
p.Gln515Glu Single submitter ⚠
p.Gln519His Single submitter ⚠
p.Gln648His Single submitter ⚠
p.Gln7Leu Single submitter ⚠
p.Glu115Lys Single submitter ⚠
p.Glu121Asp Single submitter ⚠
p.Glu259Ala Single submitter ⚠
p.Glu259Asp Single submitter ⚠
p.Glu259Lys Single submitter ⚠
p.Glu313Asp Single submitter ⚠
p.Glu324Lys Single submitter ⚠
p.Glu504Gly Single submitter ⚠
p.Glu517Lys Single submitter ⚠
p.Glu550Gly Single submitter ⚠
p.Glu66Ala Single submitter ⚠
p.Glu66Gln Single submitter ⚠
p.Gly174Arg Single submitter ⚠
p.Gly17Ser Single submitter ⚠
p.Gly27Ala Single submitter ⚠
p.Gly407Glu Single submitter ⚠
p.Gly444Arg Single submitter ⚠
p.Gly608Val Single submitter ⚠
p.Gly616Trp Single submitter ⚠
p.Gly73Glu Single submitter ⚠
p.Gly89Arg Single submitter ⚠
p.His137Tyr Single submitter ⚠
p.His294Arg Single submitter ⚠
p.His314Gln Single submitter ⚠
p.His577Arg Single submitter ⚠
p.His92Arg Single submitter ⚠
p.Ile22Val Single submitter ⚠
p.Ile357Leu Single submitter ⚠
p.Ile447Phe Single submitter ⚠
p.Ile610Phe Single submitter ⚠
p.Leu122Phe Single submitter ⚠
p.Leu249Trp Single submitter ⚠
p.Leu24Gln Single submitter ⚠
p.Leu271Ser Single submitter ⚠
p.Leu291Val Single submitter ⚠
p.Leu341Ser Single submitter ⚠
p.Leu445Pro Single submitter ⚠
p.Leu490Pro Single submitter ⚠
p.Leu675Phe Single submitter ⚠
p.Leu677Val Single submitter ⚠
p.Lys235Gln Single submitter ⚠
p.Lys521Gln Single submitter ⚠
p.Lys599Glu Single submitter ⚠
p.Met12Leu Single submitter ⚠
p.Met513Ile Single submitter ⚠
p.Met70Thr Single submitter ⚠
p.Phe125Leu Single submitter ⚠
p.Pro548Thr Single submitter ⚠
p.Pro582Leu Single submitter ⚠
p.Pro594Arg Single submitter ⚠
p.Pro606Ala Single submitter ⚠
p.Ser169Phe Single submitter ⚠
p.Ser439Asn Single submitter ⚠
p.Ser611Arg Single submitter ⚠
p.Ser637Asn Single submitter ⚠
p.Ser673Leu Single submitter ⚠
p.Thr136Met Single submitter ⚠
p.Thr431Ala Single submitter ⚠
p.Thr431Ile Single submitter ⚠
p.Thr438Lys Single submitter ⚠
p.Thr61Ser Single submitter ⚠
p.Trp23Arg Single submitter ⚠
p.Tyr287Cys Single submitter ⚠
p.Tyr310Cys Single submitter ⚠
p.Val141Ile Single submitter ⚠
p.Val453Met Single submitter ⚠
p.Val655Leu Single submitter ⚠