Sugi Variant

Sugi Variant/CRLF1

CRLF1 — 227 ClinVar variants

All ClinVar germline CRLF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

17 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 4 Conflicting · 21 Benign · 7 Benign/Likely benign · 74 Likely benign · 90 Uncertain significance

Full CRLF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 90

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 53

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

Predictors split 36

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

All CRLF1 variants

Pathogenic 17

  • p.Gln11fs Multiple submitters cold-induced sweating syndrome
  • p.Pro238fs Multiple submitters Cold-induced sweating syndrome 1
  • p.Pro239fs Multiple submitters Inborn genetic diseases
  • p.Ser328fs Multiple submitters Cold-induced sweating syndrome 1
  • p.Trp177Ter Multiple submitters Cold-induced sweating syndrome 1
  • p.Arg277fs Single submitter Crisponi/Cold-induced sweating syndrome
  • p.Gln108Ter Single submitter
  • p.Gln252fs Single submitter Cold-induced sweating syndrome 1
  • p.Glu250fs Single submitter
  • p.Ser259Ter Single submitter Cold-induced sweating syndrome 1
  • p.Thr226fs Single submitter Cold-induced sweating syndrome 1
  • p.Trp257Ter Single submitter Cold-induced sweating syndrome 1
  • p.Glu329fs No assertion criteria Cold-induced sweating syndrome 1
  • p.Lys368Ter No assertion criteria Cold-induced sweating syndrome 1
  • p.Trp76Gly No assertion criteria Cold-induced sweating syndrome 1
  • p.Val282fs No assertion criteria Cold-induced sweating syndrome 1
  • p.Val286fs No assertion criteria Cold-induced sweating syndrome 1

Pathogenic/Likely pathogenic 1

  • c.397+1G>A Multiple submitters cone-rod dystrophy 12

Likely pathogenic 13

  • c.1213-1G>T Single submitter Cold-induced sweating syndrome 1
  • c.855+2T>G Single submitter Cold-induced sweating syndrome 1
  • p.Ala202fs Single submitter Cold-induced sweating syndrome 1
  • p.Arg275_Tyr276insTer Single submitter Cold-induced sweating syndrome 1
  • p.Arg275Pro Single submitter Cold-induced sweating syndrome 1
  • p.Arg312Leu Single submitter Cold-induced sweating syndrome 1
  • p.Met1fs Single submitter cold-induced sweating syndrome
  • p.Met1Val Single submitter cold-induced sweating syndrome
  • p.Pro206Ser Single submitter
  • p.Pro2fs Single submitter cold-induced sweating syndrome
  • p.Trp177fs Single submitter Cold-induced sweating syndrome 1
  • p.Trp76Arg Single submitter
  • p.Leu56Pro No assertion criteria Cold-induced sweating syndrome 1

Conflicting classifications of pathogenicity 4

Benign 21

Benign/Likely benign 7

Likely benign 74

Uncertain significance 90