Sugi Variant

Sugi Variant/ANKS6

ANKS6 — 597 ClinVar variants

All ClinVar germline ANKS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 22 Conflicting · 35 Benign · 20 Benign/Likely benign · 170 Likely benign · 316 Uncertain significance

Full ANKS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 316

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 13

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

Predictors lean, ClinVar uncertain 175

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 175

Predictors split 127

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

All ANKS6 variants

Pathogenic 19

Pathogenic/Likely pathogenic 3

Likely pathogenic 12

Conflicting classifications of pathogenicity 22

Benign 35

Benign/Likely benign 20

  • c.1112+18G>A Multiple submitters nephronophthisis 16
  • c.2327-19del Multiple submitters nephronophthisis 16
  • c.2327-19dup Multiple submitters nephronophthisis 16
  • c.862+20G>A Multiple submitters nephronophthisis 16
  • c.908-16C>T Multiple submitters nephronophthisis 16
  • p.Ala205= Multiple submitters nephronophthisis 16
  • p.Ala511= Multiple submitters nephronophthisis 16
  • p.Ala589= Multiple submitters nephronophthisis 16
  • p.Ala594= Multiple submitters nephronophthisis 16
  • p.Ala871= Multiple submitters nephronophthisis 16
  • p.Arg222Trp Multiple submitters nephronophthisis 16 ⚠
  • p.Asn522Ser Multiple submitters nephronophthisis 16
  • p.Asn580= Multiple submitters nephronophthisis 16
  • p.Asp325= Multiple submitters nephronophthisis 16
  • p.Gln179= Multiple submitters nephronophthisis 16
  • p.His201= Multiple submitters nephronophthisis 16
  • p.Ile375= Multiple submitters nephronophthisis 16
  • p.Leu195= Multiple submitters nephronophthisis 16
  • p.Pro735Ala Multiple submitters nephronophthisis 16 ⚠
  • p.Thr336= Multiple submitters nephronophthisis 16

Likely benign 170

Uncertain significance 316

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