Sugi Variant

Sugi Variant/CHRNG

CHRNG — 548 ClinVar variants

All ClinVar germline CHRNG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

35 Pathogenic · 11 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 34 Conflicting · 30 Benign · 11 Benign/Likely benign · 267 Likely benign · 127 Uncertain significance

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

⚑ Evidence disagreements 118

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 7

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

Predictors lean, ClinVar uncertain 58

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

Predictors split 53

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

All CHRNG variants

Pathogenic 35

  • c.56-1G>A Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Arg239Cys Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Arg46Ter Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Asn40fs Multiple submitters lethal multiple pterygium syndrome
  • p.Gln188Ter Multiple submitters CHRNG-related disorder
  • p.Gly270fs Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Pro134fs Multiple submitters Inborn genetic diseases
  • p.Pro143Arg Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Trp140Ter Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Trp381Ter Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Val154fs Multiple submitters CHRNG-related disorder
  • p.Val253fs Multiple submitters CHRNG-related disorder
  • c.55+5G>A Single submitter autosomal recessive multiple pterygium syndrome
  • c.56-2A>G Single submitter autosomal recessive multiple pterygium syndrome
  • p.Arg341Ter Single submitter
  • p.Asn163fs Single submitter
  • p.Gln224Ter Single submitter
  • p.Gln272fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.Gln35Ter Single submitter
  • p.Gln375Ter Single submitter
  • p.Gln404Ter Single submitter lethal multiple pterygium syndrome
  • p.Gln81Ter Single submitter autosomal recessive multiple pterygium syndrome
  • p.Gly429fs Single submitter
  • p.Ile145fs Single submitter
  • p.Leu180Ter Single submitter
  • p.Leu431fs Single submitter
  • p.Pro143fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.Ser133fs Single submitter
  • p.Ser153Ter Single submitter
  • p.Ser338fs Single submitter
  • p.Trp161Ter Single submitter autosomal recessive multiple pterygium syndrome
  • p.Trp206Ter Single submitter
  • p.Trp403Ter Single submitter
  • p.Tyr173fs Single submitter
  • p.Tyr173Ter Single submitter

Pathogenic/Likely pathogenic 11

  • c.1380+1G>A Multiple submitters autosomal recessive multiple pterygium syndrome
  • c.240+1del Multiple submitters autosomal recessive multiple pterygium syndrome
  • c.350+2T>C Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Arg452fs Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Arg46fs Multiple submitters lethal multiple pterygium syndrome
  • p.Arg68Ter Multiple submitters lethal multiple pterygium syndrome
  • p.Arg86Cys Multiple submitters lethal multiple pterygium syndrome
  • p.Arg92Ter Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Asp135fs Multiple submitters lethal multiple pterygium syndrome
  • p.Glu177_Ile178insTer Multiple submitters lethal multiple pterygium syndrome
  • p.Pro361fs Multiple submitters lethal multiple pterygium syndrome

Likely pathogenic 33

  • c.351-2A>G Multiple submitters lethal multiple pterygium syndrome
  • c.805+1G>A Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Ile237Lys Multiple submitters fetal akinesia deformation sequence 1
  • p.Leu100_Arg101insTrpValLeu Multiple submitters autosomal recessive multiple pterygium syndrome
  • p.Lys56Ter Multiple submitters autosomal recessive multiple pterygium syndrome
  • c.1035+2C>A Single submitter autosomal recessive multiple pterygium syndrome
  • c.1035+2C>G Single submitter autosomal recessive multiple pterygium syndrome
  • c.1250-1G>C Single submitter
  • c.1250-2A>C Single submitter
  • c.1250-2del Single submitter
  • c.240+2T>C Single submitter
  • c.241-2A>T Single submitter
  • c.351-1G>A Single submitter
  • c.55+1G>A Single submitter
  • c.604+1G>C Single submitter lethal multiple pterygium syndrome
  • c.805+2T>C Single submitter
  • c.920+2_920+5del Single submitter autosomal recessive multiple pterygium syndrome
  • c.920+2T>G Single submitter
  • c.921-1G>A Single submitter
  • p.Arg470Ter Single submitter lethal multiple pterygium syndrome
  • p.Asp49fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.Cys252fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.Cys83Ter Single submitter autosomal recessive multiple pterygium syndrome
  • p.Gln5fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.Gln5Ter Single submitter scoliosis
  • p.Glu205Ter Single submitter autosomal recessive multiple pterygium syndrome
  • p.Gly419fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.His337fs Single submitter autosomal recessive multiple pterygium syndrome
  • p.Leu265Arg Single submitter lethal multiple pterygium syndrome
  • p.Met1Thr Single submitter autosomal recessive multiple pterygium syndrome
  • p.Ser299Thr Single submitter autosomal recessive multiple pterygium syndrome ⚠
  • p.Trp82Ter Single submitter autosomal recessive multiple pterygium syndrome
  • p.Val107Gly Single submitter autosomal recessive multiple pterygium syndrome

Conflicting classifications of pathogenicity 34

  • c.195+14C>T Single submitter autosomal recessive multiple pterygium syndrome
  • c.196-9C>T Single submitter lethal multiple pterygium syndrome
  • c.351-9T>C Single submitter CHRNG-related disorder
  • c.507-12G>A Single submitter lethal multiple pterygium syndrome
  • c.806-13C>T Single submitter lethal multiple pterygium syndrome
  • c.806-7T>C Single submitter
  • p.Ala221= Single submitter autosomal recessive multiple pterygium syndrome
  • p.Ala259Thr Single submitter lethal multiple pterygium syndrome ⚠
  • p.Ala410= Single submitter lethal multiple pterygium syndrome
  • p.Ala44Thr Single submitter lethal multiple pterygium syndrome ⚠
  • p.Arg147Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg28Cys Single submitter autosomal recessive multiple pterygium syndrome ⚠
  • p.Arg332Trp Single submitter autosomal recessive multiple pterygium syndrome ⚠
  • p.Arg42Gln Single submitter autosomal recessive multiple pterygium syndrome ⚠
  • p.Arg499Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg86His Single submitter Inborn genetic diseases ⚠
  • p.Asn460Asp Single submitter CHRNG-associated hypo-akinesia disorder of prenatal onset ⚠
  • p.Asp119= Single submitter lethal multiple pterygium syndrome
  • p.Glu123Lys Single submitter lethal multiple pterygium syndrome ⚠
  • p.Glu191= Single submitter lethal multiple pterygium syndrome
  • p.Gly19= Single submitter lethal multiple pterygium syndrome
  • p.Gly461Arg Single submitter autosomal recessive multiple pterygium syndrome ⚠
  • p.His358= Single submitter lethal multiple pterygium syndrome
  • p.Ile246del Single submitter
  • p.Leu236= Single submitter lethal multiple pterygium syndrome
  • p.Phe157= Single submitter lethal multiple pterygium syndrome
  • p.Pro110= Single submitter autosomal recessive multiple pterygium syndrome
  • p.Pro142= Single submitter autosomal recessive multiple pterygium syndrome
  • p.Pro158= Single submitter lethal multiple pterygium syndrome
  • p.Pro420Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro43= Single submitter lethal multiple pterygium syndrome
  • p.Ser372Phe Single submitter lethal multiple pterygium syndrome ⚠
  • p.Thr310Ser Single submitter lethal multiple pterygium syndrome ⚠
  • p.Val367Ala Single submitter ⚠

Benign 30

Benign/Likely benign 11

Likely benign 267

Uncertain significance 127