Sugi Variant

Sugi Variant/DNAH1

DNAH1 — 2888 ClinVar variants

All ClinVar germline DNAH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 928 flagged for review →

79 Pathogenic · 7 Pathogenic/Likely pathogenic · 52 Likely pathogenic · 45 Conflicting · 138 Benign · 51 Benign/Likely benign · 1158 Likely benign · 1358 Uncertain significance

Full DNAH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 928

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 24

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 811

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 811

Predictors split 92

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

All DNAH1 variants

Pathogenic 79

Pathogenic/Likely pathogenic 7

  • c.10474+1G>A Multiple submitters spermatogenic failure 18
  • p.Ala4048fs Multiple submitters ciliary dyskinesia, primary, 37
  • p.Arg2622Ter Multiple submitters spermatogenic failure 18
  • p.Asp3890fs Multiple submitters spermatogenic failure 18
  • p.Gln1258Ter Multiple submitters spermatogenic failure 18
  • p.Trp4113Ter Multiple submitters spermatogenic failure 18
  • p.Val2559fs Multiple submitters spermatogenic failure 18

Likely pathogenic 52

Conflicting classifications of pathogenicity 45

Benign 138

Benign/Likely benign 51

  • c.11788-14C>T Multiple submitters spermatogenic failure 18
  • c.11959-15C>T Multiple submitters spermatogenic failure 18
  • c.1286+16G>A Multiple submitters spermatogenic failure 18
  • c.3694-4C>G Multiple submitters spermatogenic failure 18
  • c.5094+3A>T Multiple submitters spermatogenic failure 18
  • c.5332-14G>A Multiple submitters spermatogenic failure 18
  • c.5765+12C>G Multiple submitters spermatogenic failure 18
  • c.6526-10_6526-9del Multiple submitters ciliary dyskinesia, primary, 37
  • c.6666+14del Multiple submitters spermatogenic failure 18
  • c.7199-10A>G Multiple submitters spermatogenic failure 18
  • c.872-15C>T Multiple submitters spermatogenic failure 18
  • p.Ala1455= Multiple submitters spermatogenic failure 18
  • p.Arg1285Trp Multiple submitters spermatogenic failure 18
  • p.Arg3712= Multiple submitters ciliary dyskinesia, primary, 37
  • p.Arg3744Cys Multiple submitters spermatogenic failure 18
  • p.Arg3832Cys Multiple submitters spermatogenic failure 18
  • p.Asn1530Asp Multiple submitters spermatogenic failure 18
  • p.Asn2137= Multiple submitters spermatogenic failure 18
  • p.Asn915Ser Multiple submitters spermatogenic failure 18
  • p.Asp311= Multiple submitters spermatogenic failure 18
  • p.Asp662= Multiple submitters spermatogenic failure 18
  • p.Asp906Gly Multiple submitters spermatogenic failure 18
  • p.Cys1067= Multiple submitters spermatogenic failure 18
  • p.Glu1988= Multiple submitters spermatogenic failure 18
  • p.Glu2459Lys Multiple submitters spermatogenic failure 18
  • p.Gly1890Val Multiple submitters spermatogenic failure 18
  • p.His973= Multiple submitters spermatogenic failure 18
  • p.Ile190Thr Multiple submitters spermatogenic failure 18
  • p.Ile2019= Multiple submitters spermatogenic failure 18
  • p.Ile2226Val Multiple submitters spermatogenic failure 18
  • p.Ile2381Met Multiple submitters spermatogenic failure 18
  • p.Ile2739Val Multiple submitters spermatogenic failure 18
  • p.Ile3439= Multiple submitters spermatogenic failure 18
  • p.Leu2598= Multiple submitters spermatogenic failure 18
  • p.Leu3474= Multiple submitters spermatogenic failure 18
  • p.Lys1279Arg Multiple submitters spermatogenic failure 18
  • p.Lys415Arg Multiple submitters spermatogenic failure 18
  • p.Met1892Leu Multiple submitters spermatogenic failure 18
  • p.Met661Val Multiple submitters spermatogenic failure 18
  • p.Pro1421= Multiple submitters spermatogenic failure 18
  • p.Pro657Ala Multiple submitters spermatogenic failure 18
  • p.Ser1037= Multiple submitters spermatogenic failure 18
  • p.Ser2523= Multiple submitters spermatogenic failure 18
  • p.Ser429= Multiple submitters spermatogenic failure 18
  • p.Ser735Asn Multiple submitters spermatogenic failure 18
  • p.Thr4125= Multiple submitters spermatogenic failure 18
  • p.Tyr391Cys Multiple submitters spermatogenic failure 18
  • p.Val1511Met Multiple submitters spermatogenic failure 18
  • p.Val1951= Multiple submitters ciliary dyskinesia, primary, 37
  • p.Val2756Met Multiple submitters spermatogenic failure 18
  • p.Val441Leu Multiple submitters spermatogenic failure 18

Likely benign 1158

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1358

Showing the top 300 by review status; the full set is in the sitemap.