Sugi Variant

Sugi Variant/NEXMIF

NEXMIF — 1279 ClinVar variants

All ClinVar germline NEXMIF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 662 flagged for review →

188 Pathogenic · 4 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 72 Conflicting · 45 Benign · 62 Benign/Likely benign · 253 Likely benign · 628 Uncertain significance

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

⚑ Evidence disagreements 662

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 57

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 518

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 518

Predictors split 85

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

All NEXMIF variants

Pathogenic 188

Pathogenic/Likely pathogenic 4

  • p.Gln232Ter Multiple submitters
  • p.Gln476Ter Multiple submitters X-linked intellectual disability, Cantagrel type
  • p.Glu375fs Multiple submitters X-linked intellectual disability, Cantagrel type
  • p.Pro808fs Multiple submitters X-linked intellectual disability, Cantagrel type

Likely pathogenic 27

  • p.Lys591Ter Multiple submitters neurodevelopmental disorder
  • c.80-1G>T Single submitter X-linked intellectual disability, Cantagrel type
  • p.Asn1132fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Asn546fs Single submitter intellectual disability
  • p.Asp137fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Asp698fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Gln426Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Gln594Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Glu1110fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Glu375Ter Single submitter
  • p.Gly1093fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Gly1104Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Gly206fs Single submitter NEXMIF-related disorder
  • p.Leu798Ter Single submitter intellectual disability
  • p.Lys1198Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Lys1210fs Single submitter intellectual disability
  • p.Lys1287Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Lys222fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Lys729Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Met463fs Single submitter KIAA2022-related disorders
  • p.Pro1060fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Ser1146Tyr Single submitter X-linked intellectual disability, Cantagrel type ⚠
  • p.Ser1180Ter Single submitter X-linked intellectual disability, Cantagrel type
  • p.Ser460fs Single submitter Seizure
  • p.Ser919fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Val23fs Single submitter X-linked intellectual disability, Cantagrel type
  • p.Val366fs Single submitter KIAA2022-related disorders

Conflicting classifications of pathogenicity 72

Benign 45

Benign/Likely benign 62

Likely benign 253

Uncertain significance 628

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