DHX8 — 92 ClinVar variants

All ClinVar germline DHX8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

1 Benign · 3 Likely benign · 88 Uncertain significance

Full DHX8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 44

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

Predictors split 44

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

All DHX8 variants

Benign 1

c.3444-10C>T Multiple submitters

Likely benign 3

c.2800-4C>A Single submitter
p.Asp685= Single submitter
p.Leu874= Single submitter

Uncertain significance 88

p.Ala1075Ser Single submitter ⚠
p.Ala10Ser Single submitter ⚠
p.Ala10Thr Single submitter ⚠
p.Ala19Thr Single submitter ⚠
p.Ala2Ser Single submitter ⚠
p.Ala516Val Single submitter ⚠
p.Ala8Val Single submitter ⚠
p.Ala934Thr Single submitter ⚠
p.Ala96Glu Single submitter ⚠
p.Ala96Thr Single submitter ⚠
p.Arg1074Gln Single submitter ⚠
p.Arg131Gln Single submitter ⚠
p.Arg176Trp Single submitter ⚠
p.Arg178Gln Single submitter ⚠
p.Arg178Leu Single submitter ⚠
p.Arg194Gln Single submitter ⚠
p.Arg203Gln Single submitter ⚠
p.Arg203Leu Single submitter ⚠
p.Arg205His Single submitter ⚠
p.Arg213Trp Single submitter ⚠
p.Arg238Leu Single submitter ⚠
p.Arg244Gln Single submitter ⚠
p.Arg302Gln Single submitter ⚠
p.Arg318Lys Single submitter ⚠
p.Arg388Cys Single submitter ⚠
p.Arg708Trp Single submitter ⚠
p.Arg887Gln Single submitter ⚠
p.Arg93Gln Single submitter ⚠
p.Arg979Trp Single submitter ⚠
p.Asn245Ile Single submitter ⚠
p.Asn308Ser Single submitter ⚠
p.Asn533Ser Single submitter ⚠
p.Asp1023Asn Single submitter ⚠
p.Asp181Asn Single submitter ⚠
p.Asp187His Single submitter ⚠
p.Asp197Tyr Single submitter ⚠
p.Asp234His Single submitter ⚠
p.Asp311Val Single submitter ⚠
p.Asp458Gly Single submitter ⚠
p.Cys123Tyr Single submitter ⚠
p.Glu1122Gly Single submitter ⚠
p.Glu136Lys Single submitter ⚠
p.Glu303Ala Single submitter ⚠
p.Glu361Asp Single submitter ⚠
p.Glu751Gln Single submitter ⚠
p.Gly13Trp Single submitter ⚠
p.Gly356Arg Single submitter ⚠
p.Gly782Ser Single submitter ⚠
p.Gly9Val Single submitter ⚠
p.His198Leu Single submitter ⚠
p.His253Arg Single submitter ⚠
p.Ile1107Val Single submitter ⚠
p.Ile406Val Single submitter ⚠
p.Ile535Val Single submitter ⚠
p.Ile54Thr Single submitter ⚠
p.Leu1127Val Single submitter ⚠
p.Leu287Val Single submitter ⚠
p.Leu49Phe Single submitter ⚠
p.Leu757Val Single submitter ⚠
p.Leu940Met Single submitter ⚠
p.Lys175Gln Single submitter ⚠
p.Lys47Arg Single submitter ⚠
p.Lys547Ile Single submitter ⚠
p.Lys59Arg Single submitter ⚠
p.Lys72Thr Single submitter ⚠
p.Met503Thr Single submitter ⚠
p.Met531Thr Single submitter ⚠
p.Phe419Leu Single submitter ⚠
p.Pro108Ser Single submitter ⚠
p.Pro1120Ala Single submitter ⚠
p.Pro18Leu Single submitter ⚠
p.Pro231Ser Single submitter ⚠
p.Pro532Ser Single submitter ⚠
p.Pro878Arg Single submitter ⚠
p.Ser101Arg Single submitter ⚠
p.Thr171Ile Single submitter ⚠
p.Thr599Asn Single submitter ⚠
p.Thr62Ile Single submitter ⚠
p.Thr694Ala Single submitter ⚠
p.Thr78Met Single submitter ⚠
p.Tyr268Cys Single submitter ⚠
p.Tyr730Cys Single submitter ⚠
p.Val1017Ile Single submitter ⚠
p.Val1103Ala Single submitter ⚠
p.Val355Ile Single submitter ⚠
p.Val465Ile Single submitter ⚠
p.Val578Ile Single submitter ⚠
p.Val71Ile Single submitter ⚠