Sugi Variant

Sugi Variant/CHRND

CHRND — 617 ClinVar variants

All ClinVar germline CHRND variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →

19 Pathogenic · 7 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 47 Conflicting · 23 Benign · 10 Benign/Likely benign · 169 Likely benign · 323 Uncertain significance

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

⚑ Evidence disagreements 288

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 11

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

Predictors lean, ClinVar uncertain 142

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

Predictors split 135

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

All CHRND variants

Pathogenic 19

  • p.Ala176fs Multiple submitters lethal multiple pterygium syndrome
  • p.Trp78Ter Multiple submitters congenital myasthenic syndrome 3B
  • c.820_820+1del Single submitter lethal multiple pterygium syndrome
  • p.Ala13fs Single submitter lethal multiple pterygium syndrome
  • p.Ala226fs Single submitter lethal multiple pterygium syndrome
  • p.Arg30fs Single submitter lethal multiple pterygium syndrome
  • p.Asp106fs Single submitter lethal multiple pterygium syndrome
  • p.Asp201fs Single submitter lethal multiple pterygium syndrome
  • p.Asp85fs Single submitter lethal multiple pterygium syndrome
  • p.Glu210Ter Single submitter lethal multiple pterygium syndrome
  • p.Glu71fs Single submitter lethal multiple pterygium syndrome
  • p.Gly82_Trp83insTer Single submitter lethal multiple pterygium syndrome
  • p.Leu32fs Single submitter lethal multiple pterygium syndrome
  • p.Met1Thr Single submitter lethal multiple pterygium syndrome
  • p.Trp20Ter Single submitter lethal multiple pterygium syndrome
  • c.901_1048-282del No assertion criteria congenital myasthenic syndrome 3C
  • p.Glu80Lys No assertion criteria congenital myasthenic syndrome 3B
  • p.Leu63Pro No assertion criteria congenital myasthenic syndrome 3B
  • p.Phe95Leu No assertion criteria lethal multiple pterygium syndrome

Pathogenic/Likely pathogenic 7

  • c.1252+1G>A Multiple submitters lethal multiple pterygium syndrome
  • c.821-2A>C Multiple submitters lethal multiple pterygium syndrome
  • p.Arg43Trp Multiple submitters lethal multiple pterygium syndrome
  • p.Cys257Arg Multiple submitters lethal multiple pterygium syndrome
  • p.Ser370fs Multiple submitters congenital myasthenic syndrome 3B
  • p.Trp83Ter Multiple submitters congenital myasthenic syndrome 3B
  • p.Val328fs Multiple submitters lethal multiple pterygium syndrome

Likely pathogenic 19

  • c.933-2A>G Multiple submitters lethal multiple pterygium syndrome
  • p.Arg336Gln Multiple submitters CHRND-related disorder
  • c.243+1G>A Single submitter lethal multiple pterygium syndrome
  • c.509+1G>A Single submitter lethal multiple pterygium syndrome
  • c.510-1G>T Single submitter lethal multiple pterygium syndrome
  • c.52+1G>A Single submitter congenital myasthenic syndrome 3B
  • c.932+2T>A Single submitter lethal multiple pterygium syndrome
  • p.Ala427fs Single submitter congenital myasthenic syndrome 3C
  • p.Asp186fs Single submitter lethal multiple pterygium syndrome
  • p.Cys151Ser Single submitter arthrogryposis multiplex congenita
  • p.Leu56fs Single submitter lethal multiple pterygium syndrome
  • p.Lys459fs Single submitter lethal multiple pterygium syndrome
  • p.Pro271Gln Single submitter congenital myasthenic syndrome 3B
  • p.Ser274fs Single submitter ptosis
  • p.Ser289Phe Single submitter lethal multiple pterygium syndrome
  • p.Trp141Cys Single submitter lethal multiple pterygium syndrome
  • p.Trp462Leu Single submitter ptosis
  • p.Trp90Ter Single submitter
  • p.Val290fs Single submitter

Conflicting classifications of pathogenicity 47

  • c.1048-7G>T Single submitter lethal multiple pterygium syndrome
  • c.1252+10C>T Single submitter lethal multiple pterygium syndrome
  • c.1253-10T>G Single submitter lethal multiple pterygium syndrome
  • c.1253-9C>T Single submitter congenital myasthenic syndrome
  • c.198+14C>T Single submitter congenital myasthenic syndrome
  • c.932+5G>A Single submitter
  • c.932+9C>T Single submitter congenital myasthenic syndrome
  • c.933-9T>C Single submitter lethal multiple pterygium syndrome
  • c.*365C>A Single submitter autosomal recessive multiple pterygium syndrome
  • c.*908A>G Single submitter congenital myasthenic syndrome
  • p.Ala15= Single submitter lethal multiple pterygium syndrome
  • p.Ala15Val Single submitter lethal multiple pterygium syndrome ⚠
  • p.Arg233His Single submitter Inborn genetic diseases ⚠
  • p.Arg243Cys Single submitter lethal multiple pterygium syndrome ⚠
  • p.Arg243His Single submitter lethal multiple pterygium syndrome ⚠
  • p.Arg244Cys Single submitter lethal multiple pterygium syndrome ⚠
  • p.Arg298His Single submitter congenital myasthenic syndrome ⚠
  • p.Arg336Ter Single submitter lethal multiple pterygium syndrome
  • p.Arg376Gln Single submitter congenital myasthenic syndrome ⚠
  • p.Arg419Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg467His Single submitter congenital myasthenic syndrome ⚠
  • p.Asn130Ile Single submitter lethal multiple pterygium syndrome ⚠
  • p.Asn453= Single submitter congenital myasthenic syndrome
  • p.Asn456Ser Single submitter congenital myasthenic syndrome ⚠
  • p.Asn510= Single submitter congenital myasthenic syndrome
  • p.Asp273Asn Single submitter lethal multiple pterygium syndrome ⚠
  • p.Glu24Lys Single submitter lethal multiple pterygium syndrome ⚠
  • p.Glu402Lys Single submitter congenital myasthenic syndrome 3B ⚠
  • p.Gly137= Single submitter lethal multiple pterygium syndrome
  • p.Gly275Ser Single submitter congenital myasthenic syndrome 3B ⚠
  • p.Gly316Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu294Phe Single submitter congenital myasthenic syndrome 3A ⚠
  • p.Lys89Asn Single submitter lethal multiple pterygium syndrome ⚠
  • p.Met449fs Single submitter lethal multiple pterygium syndrome
  • p.Phe138= Single submitter congenital myasthenic syndrome
  • p.Phe160= Single submitter lethal multiple pterygium syndrome
  • p.Pro217= Single submitter lethal multiple pterygium syndrome
  • p.Pro369Ser Single submitter congenital myasthenic syndrome 3A ⚠
  • p.Ser283= Single submitter lethal multiple pterygium syndrome
  • p.Thr175= Single submitter congenital myasthenic syndrome
  • p.Thr485= Single submitter congenital myasthenic syndrome
  • p.Tyr494His Single submitter lethal multiple pterygium syndrome ⚠
  • p.Val139Met Single submitter lethal multiple pterygium syndrome ⚠
  • p.Val375= Single submitter lethal multiple pterygium syndrome
  • p.Val482= Single submitter lethal multiple pterygium syndrome
  • p.Val493Ile Single submitter lethal multiple pterygium syndrome ⚠
  • p.Val54Ile Single submitter lethal multiple pterygium syndrome ⚠

Benign 23

Benign/Likely benign 10

  • c.1253-8G>A Multiple submitters lethal multiple pterygium syndrome
  • c.821-52_821-18del Multiple submitters
  • c.932+20G>A Multiple submitters lethal multiple pterygium syndrome
  • c.*1025A>G Multiple submitters lethal multiple pterygium syndrome
  • c.*424C>T Multiple submitters lethal multiple pterygium syndrome
  • c.*52A>G Multiple submitters lethal multiple pterygium syndrome
  • c.*547G>C Multiple submitters congenital myasthenic syndrome
  • c.*885T>C Multiple submitters lethal multiple pterygium syndrome
  • p.Gln288Glu Multiple submitters congenital myasthenic syndrome ⚠
  • p.His81= Multiple submitters lethal multiple pterygium syndrome

Likely benign 169

  • c.1371+189G>A Multiple submitters
  • c.1372-50T>G Multiple submitters
  • c.198+15G>A Multiple submitters lethal multiple pterygium syndrome
  • c.243+65C>T Multiple submitters
  • c.620-7C>T Multiple submitters lethal multiple pterygium syndrome
  • c.820+48G>A Multiple submitters
  • p.Leu472= Multiple submitters lethal multiple pterygium syndrome
  • p.Pro271= Multiple submitters lethal multiple pterygium syndrome
  • p.Thr237= Multiple submitters lethal multiple pterygium syndrome
  • c.1047+10T>C Single submitter lethal multiple pterygium syndrome
  • c.1047+15C>T Single submitter lethal multiple pterygium syndrome
  • c.1047+16G>A Single submitter lethal multiple pterygium syndrome
  • c.1047+17G>A Single submitter lethal multiple pterygium syndrome
  • c.1047+19G>A Single submitter lethal multiple pterygium syndrome
  • c.1047+20C>T Single submitter lethal multiple pterygium syndrome
  • c.1047+279A>G Single submitter
  • c.1048-12A>G Single submitter lethal multiple pterygium syndrome
  • c.1252+15G>A Single submitter lethal multiple pterygium syndrome
  • c.1252+16T>A Single submitter lethal multiple pterygium syndrome
  • c.1252+9C>A Single submitter lethal multiple pterygium syndrome
  • c.1253-11C>A Single submitter lethal multiple pterygium syndrome
  • c.1253-11C>G Single submitter lethal multiple pterygium syndrome
  • c.1253-13C>A Single submitter lethal multiple pterygium syndrome
  • c.1371+10C>A Single submitter lethal multiple pterygium syndrome
  • c.1371+17T>C Single submitter lethal multiple pterygium syndrome
  • c.1371+87T>C Single submitter
  • c.1372-239T>C Single submitter
  • c.198+12_198+13insA Single submitter lethal multiple pterygium syndrome
  • c.198+13C>G Single submitter lethal multiple pterygium syndrome
  • c.198+7G>A Single submitter lethal multiple pterygium syndrome
  • c.199-12G>A Single submitter lethal multiple pterygium syndrome
  • c.199-13C>T Single submitter lethal multiple pterygium syndrome
  • c.199-8A>G Single submitter lethal multiple pterygium syndrome
  • c.199-90AG[11] Single submitter
  • c.199-90AG[16] Single submitter
  • c.199-90dup Single submitter
  • c.199-91_199-90dup Single submitter
  • c.243+126C>T Single submitter
  • c.243+9G>A Single submitter lethal multiple pterygium syndrome
  • c.244-18A>T Single submitter lethal multiple pterygium syndrome
  • c.353+12C>A Single submitter lethal multiple pterygium syndrome
  • c.353+14C>G Single submitter lethal multiple pterygium syndrome
  • c.354-10T>C Single submitter lethal multiple pterygium syndrome
  • c.509+11T>C Single submitter lethal multiple pterygium syndrome
  • c.509+18G>A Single submitter lethal multiple pterygium syndrome
  • c.510-16C>A Single submitter lethal multiple pterygium syndrome
  • c.510-16C>G Single submitter lethal multiple pterygium syndrome
  • c.510-17C>A Single submitter lethal multiple pterygium syndrome
  • c.510-28G>A Single submitter
  • c.52+15C>A Single submitter lethal multiple pterygium syndrome
  • c.52+18C>A Single submitter lethal multiple pterygium syndrome
  • c.52+18C>G Single submitter lethal multiple pterygium syndrome
  • c.53-15G>A Single submitter lethal multiple pterygium syndrome
  • c.53-16C>T Single submitter lethal multiple pterygium syndrome
  • c.53-7_53-6insA Single submitter lethal multiple pterygium syndrome
  • c.619+10del Single submitter lethal multiple pterygium syndrome
  • c.619+15C>T Single submitter lethal multiple pterygium syndrome
  • c.619+16G>A Single submitter lethal multiple pterygium syndrome
  • c.619+16G>C Single submitter lethal multiple pterygium syndrome
  • c.619+16G>T Single submitter lethal multiple pterygium syndrome
  • c.620-17C>T Single submitter lethal multiple pterygium syndrome
  • c.620-19G>A Single submitter lethal multiple pterygium syndrome
  • c.620-9C>T Single submitter lethal multiple pterygium syndrome
  • c.820+13G>A Single submitter lethal multiple pterygium syndrome
  • c.820+13G>T Single submitter lethal multiple pterygium syndrome
  • c.820+16C>G Single submitter lethal multiple pterygium syndrome
  • c.820+17C>A Single submitter lethal multiple pterygium syndrome
  • c.820+17C>G Single submitter lethal multiple pterygium syndrome
  • c.820+17C>T Single submitter lethal multiple pterygium syndrome
  • c.820+18G>A Single submitter lethal multiple pterygium syndrome
  • c.821-19C>T Single submitter lethal multiple pterygium syndrome
  • c.821-5C>A Single submitter lethal multiple pterygium syndrome
  • c.821-5C>T Single submitter lethal multiple pterygium syndrome
  • c.932+10G>A Single submitter lethal multiple pterygium syndrome
  • c.932+16G>A Single submitter lethal multiple pterygium syndrome
  • c.932+17C>A Single submitter lethal multiple pterygium syndrome
  • c.932+19C>G Single submitter lethal multiple pterygium syndrome
  • c.933-19G>A Single submitter lethal multiple pterygium syndrome
  • c.933-6C>G Single submitter lethal multiple pterygium syndrome
  • c.933-7C>T Single submitter lethal multiple pterygium syndrome
  • c.-394T>G Single submitter
  • c.*676G>A Single submitter lethal multiple pterygium syndrome
  • p.Ala145= Single submitter lethal multiple pterygium syndrome
  • p.Ala176= Single submitter lethal multiple pterygium syndrome
  • p.Ala387= Single submitter lethal multiple pterygium syndrome
  • p.Ala411= Single submitter lethal multiple pterygium syndrome
  • p.Arg27= Single submitter lethal multiple pterygium syndrome
  • p.Arg407= Single submitter lethal multiple pterygium syndrome
  • p.Arg43= Single submitter lethal multiple pterygium syndrome
  • p.Arg471= Single submitter lethal multiple pterygium syndrome
  • p.Asn130= Single submitter lethal multiple pterygium syndrome
  • p.Asn208= Single submitter lethal multiple pterygium syndrome
  • p.Asn221= Single submitter lethal multiple pterygium syndrome
  • p.Asn76= Single submitter lethal multiple pterygium syndrome
  • p.Asp120= Single submitter lethal multiple pterygium syndrome
  • p.Asp235= Single submitter lethal multiple pterygium syndrome
  • p.Asp398= Single submitter lethal multiple pterygium syndrome
  • p.Asp53= Single submitter lethal multiple pterygium syndrome
  • p.Glu112= Single submitter lethal multiple pterygium syndrome
  • p.Glu345= Single submitter lethal multiple pterygium syndrome
  • p.Glu388= Single submitter lethal multiple pterygium syndrome
  • p.Glu49= Single submitter lethal multiple pterygium syndrome
  • p.Gly484= Single submitter lethal multiple pterygium syndrome
  • p.Gly492= Single submitter lethal multiple pterygium syndrome
  • p.Gly9= Single submitter lethal multiple pterygium syndrome
  • p.Ile125= Single submitter lethal multiple pterygium syndrome
  • p.Ile179= Single submitter lethal multiple pterygium syndrome
  • p.Ile242= Single submitter lethal multiple pterygium syndrome
  • p.Ile309= Single submitter lethal multiple pterygium syndrome
  • p.Ile329= Single submitter lethal multiple pterygium syndrome
  • p.Leu11= Single submitter lethal multiple pterygium syndrome
  • p.Leu14= Single submitter lethal multiple pterygium syndrome
  • p.Leu181= Single submitter lethal multiple pterygium syndrome
  • p.Leu183= Single submitter lethal multiple pterygium syndrome
  • p.Leu240= Single submitter lethal multiple pterygium syndrome
  • p.Leu270= Single submitter lethal multiple pterygium syndrome
  • p.Leu28= Single submitter lethal multiple pterygium syndrome
  • p.Leu285= Single submitter lethal multiple pterygium syndrome
  • p.Leu294= Single submitter lethal multiple pterygium syndrome
  • p.Leu319= Single submitter lethal multiple pterygium syndrome
  • p.Leu32= Single submitter lethal multiple pterygium syndrome
  • p.Leu331= Single submitter lethal multiple pterygium syndrome
  • p.Leu352= Single submitter lethal multiple pterygium syndrome
  • p.Leu374= Single submitter lethal multiple pterygium syndrome
  • p.Leu381= Single submitter lethal multiple pterygium syndrome
  • p.Leu399= Single submitter lethal multiple pterygium syndrome
  • p.Leu410= Single submitter lethal multiple pterygium syndrome
  • p.Leu435= Single submitter lethal multiple pterygium syndrome
  • p.Leu474= Single submitter lethal multiple pterygium syndrome
  • p.Leu490= Single submitter lethal multiple pterygium syndrome
  • p.Leu58= Single submitter lethal multiple pterygium syndrome
  • p.Leu60= Single submitter lethal multiple pterygium syndrome
  • p.Leu88= Single submitter lethal multiple pterygium syndrome
  • p.Lys245= Single submitter lethal multiple pterygium syndrome
  • p.Lys36= Single submitter lethal multiple pterygium syndrome
  • p.Lys89= Single submitter lethal multiple pterygium syndrome
  • p.Phe315= Single submitter lethal multiple pterygium syndrome
  • p.Phe401= Single submitter lethal multiple pterygium syndrome
  • p.Pro104= Single submitter lethal multiple pterygium syndrome
  • p.Pro105= Single submitter lethal multiple pterygium syndrome
  • p.Pro111= Single submitter lethal multiple pterygium syndrome
  • p.Pro194= Single submitter lethal multiple pterygium syndrome
  • p.Pro202= Single submitter lethal multiple pterygium syndrome
  • p.Pro246= Single submitter lethal multiple pterygium syndrome
  • p.Pro307= Single submitter lethal multiple pterygium syndrome
  • p.Pro356= Single submitter lethal multiple pterygium syndrome
  • p.Pro44= Single submitter lethal multiple pterygium syndrome
  • p.Pro498= Single submitter lethal multiple pterygium syndrome
  • p.Pro499= Single submitter lethal multiple pterygium syndrome
  • p.Ser126= Single submitter lethal multiple pterygium syndrome
  • p.Ser149= Single submitter lethal multiple pterygium syndrome
  • p.Ser171= Single submitter lethal multiple pterygium syndrome
  • p.Ser296= Single submitter lethal multiple pterygium syndrome
  • p.Ser385= Single submitter lethal multiple pterygium syndrome
  • p.Ser423= Single submitter lethal multiple pterygium syndrome
  • p.Thr156= Single submitter lethal multiple pterygium syndrome
  • p.Thr340= Single submitter lethal multiple pterygium syndrome
  • p.Thr478= Single submitter lethal multiple pterygium syndrome
  • p.Thr75= Single submitter lethal multiple pterygium syndrome
  • p.Tyr134= Single submitter lethal multiple pterygium syndrome
  • p.Tyr136= Single submitter lethal multiple pterygium syndrome
  • p.Tyr494= Single submitter lethal multiple pterygium syndrome
  • p.Tyr509= Single submitter lethal multiple pterygium syndrome
  • p.Val318= Single submitter lethal multiple pterygium syndrome
  • p.Val328= Single submitter lethal multiple pterygium syndrome
  • p.Val342= Single submitter lethal multiple pterygium syndrome
  • p.Val469= Single submitter lethal multiple pterygium syndrome
  • p.Val476= Single submitter lethal multiple pterygium syndrome
  • p.Val77= Single submitter lethal multiple pterygium syndrome

Uncertain significance 323

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