Sugi Variant

Sugi Variant/COG6

COG6 — 445 ClinVar variants

All ClinVar germline COG6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

16 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 16 Conflicting · 76 Benign · 8 Benign/Likely benign · 105 Likely benign · 200 Uncertain significance

Full COG6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

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 3

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

Predictors lean, ClinVar uncertain 121

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

Predictors split 24

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

All COG6 variants

Pathogenic 16

  • p.Arg171Ter Multiple submitters COG6-congenital disorder of glycosylation
  • p.Leu217fs Multiple submitters COG6-congenital disorder of glycosylation
  • c.1009+1G>T Single submitter COG6-congenital disorder of glycosylation
  • c.1075-1G>T Single submitter
  • c.153+392A>G Single submitter COG6-congenital disorder of glycosylation
  • p.Ala85fs Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Gln130Ter Single submitter COG6-congenital disorder of glycosylation
  • p.Gln558Ter Single submitter COG6-congenital disorder of glycosylation
  • p.Gly549Val Single submitter COG6-congenital disorder of glycosylation
  • p.Leu261Ter Single submitter COG6-related disorder
  • p.Lys38Ter Single submitter
  • p.Ser83fs Single submitter Fetal anomalies with a likely genetic cause
  • p.Trp229Ter Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Cys242fs No assertion criteria COG6-congenital disorder of glycosylation
  • p.Phe414fs No assertion criteria COG6-congenital disorder of glycosylation
  • p.Tyr628Ter No assertion criteria COG6-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 5

  • c.1167-24A>G Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Arg360Ter Multiple submitters COG6-congenital disorder of glycosylation
  • p.Leu329fs Multiple submitters COG6-congenital disorder of glycosylation
  • p.Leu512Ter Multiple submitters COG6-congenital disorder of glycosylation
  • p.Lys184fs Multiple submitters COG6-congenital disorder of glycosylation

Likely pathogenic 19

  • c.1166+1G>A Multiple submitters Inborn genetic diseases
  • c.154-2A>G Single submitter COG6-congenital disorder of glycosylation
  • c.1585-2A>G Single submitter COG6-congenital disorder of glycosylation
  • c.1746+1del Single submitter COG6-related disorder
  • c.1826+2T>C Single submitter COG6-congenital disorder of glycosylation
  • c.518_540+3del Single submitter
  • c.623+1G>A Single submitter COG6-related disorder
  • c.624-2A>G Single submitter
  • c.695-8T>G Single submitter autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
  • c.789-1G>T Single submitter
  • p.Arg228Ter Single submitter COG6-related disorder
  • p.Cys354fs Single submitter COG6-related disorder
  • p.Cys354Ter Single submitter
  • p.Gln231Ter Single submitter
  • p.Glu180= Single submitter COG6-congenital disorder of glycosylation
  • p.Ser61fs Single submitter
  • p.Ser61Ter Single submitter COG6-congenital disorder of glycosylation
  • p.Tyr262Cys Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.His302fs No assertion criteria COG6-related disorder

Conflicting classifications of pathogenicity 16

  • c.1075-12A>C Single submitter COG6-congenital disorder of glycosylation
  • c.1693-12T>C Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1693-7T>A Single submitter COG6-congenital disorder of glycosylation
  • c.1827-4A>G Single submitter COG6-congenital disorder of glycosylation
  • c.298-1G>A Single submitter COG6-congenital disorder of glycosylation
  • c.917+4T>C Single submitter COG6-congenital disorder of glycosylation
  • c.*40A>G Single submitter COG6-congenital disorder of glycosylation
  • p.Arg587Cys Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Asp107Val Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Asp243= Single submitter COG6-congenital disorder of glycosylation
  • p.Gly549Cys Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.His421= Single submitter COG6-congenital disorder of glycosylation
  • p.Lys82Arg Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Met1Val Single submitter COG6-congenital disorder of glycosylation
  • p.Pro649= Single submitter COG6-congenital disorder of glycosylation
  • p.Ser120Gly Single submitter COG6-congenital disorder of glycosylation ⚠

Benign 76

Benign/Likely benign 8

  • c.153+19G>A Multiple submitters COG6-congenital disorder of glycosylation
  • c.1693-6A>T Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.-17dup Multiple submitters
  • p.Asn394Asp Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Gly23= Multiple submitters COG6-congenital disorder of glycosylation
  • p.His300Tyr Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Leu285= Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Leu436= Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Likely benign 105

  • c.1009+15T>C Multiple submitters COG6-congenital disorder of glycosylation
  • c.1284+27A>G Multiple submitters
  • c.153+11C>A Multiple submitters COG6-congenital disorder of glycosylation
  • c.1692+13A>G Multiple submitters COG6-congenital disorder of glycosylation
  • c.1692+19C>T Multiple submitters COG6-congenital disorder of glycosylation
  • c.298-97T>G Multiple submitters
  • c.369+13G>A Multiple submitters
  • c.370-18A>G Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.-53T>G Multiple submitters COG6-congenital disorder of glycosylation
  • p.Asn22Ser Multiple submitters Inborn genetic diseases
  • p.Asn87= Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Glu327= Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Ile42= Multiple submitters COG6-congenital disorder of glycosylation
  • p.Leu101= Multiple submitters COG6-congenital disorder of glycosylation
  • p.Leu357= Multiple submitters COG6-congenital disorder of glycosylation
  • p.Lys411= Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Pro290= Multiple submitters COG6-congenital disorder of glycosylation
  • p.Thr511= Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1009+50A>G Single submitter
  • c.1010-14G>A Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1075-48A>T Single submitter
  • c.1166+231CA[14] Single submitter
  • c.1284+19A>T Single submitter
  • c.1285-10C>T Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1416+4T>A Single submitter
  • c.1417-8A>C Single submitter
  • c.153+15C>T Single submitter COG6-congenital disorder of glycosylation
  • c.154-12C>T Single submitter COG6-congenital disorder of glycosylation
  • c.154-6G>C Single submitter
  • c.1585-18C>G Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1585-19_1585-18insAAAAT Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1692+12G>C Single submitter COG6-congenital disorder of glycosylation
  • c.1692+14T>C Single submitter COG6-congenital disorder of glycosylation
  • c.1692+179G>A Single submitter
  • c.1692+9A>G Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1693-13T>C Single submitter
  • c.1746+14A>G Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1746+8T>A Single submitter COG6-congenital disorder of glycosylation
  • c.1747-19A>G Single submitter COG6-congenital disorder of glycosylation
  • c.1747-4T>A Single submitter
  • c.1826+14G>A Single submitter
  • c.1826+8T>C Single submitter
  • c.369+8A>G Single submitter
  • c.370-18A>T Single submitter COG6-congenital disorder of glycosylation
  • c.428+18C>T Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.429-13T>C Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.541-14del Single submitter
  • c.623+16C>G Single submitter
  • c.623+7A>G Single submitter
  • c.624-4_624-3dup Single submitter
  • c.694+7G>T Single submitter COG6-congenital disorder of glycosylation
  • c.695-20T>C Single submitter COG6-congenital disorder of glycosylation
  • c.788+10T>A Single submitter COG6-congenital disorder of glycosylation
  • c.917+15C>T Single submitter
  • c.917+19A>G Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.-21_-20insC Single submitter
  • c.-41G>C Single submitter
  • c.-43C>T Single submitter
  • c.*157G>C Single submitter
  • c.*315del Single submitter COG6-congenital disorder of glycosylation
  • c.*3A>T Single submitter
  • c.*889T>A Single submitter COG6-congenital disorder of glycosylation
  • p.Ala454= Single submitter COG6-congenital disorder of glycosylation
  • p.Arg355= Single submitter
  • p.Arg520= Single submitter COG6-congenital disorder of glycosylation
  • p.Asn113Ser Single submitter Inborn genetic diseases
  • p.Asn613= Single submitter
  • p.Asp195= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Asp534= Single submitter COG6-congenital disorder of glycosylation
  • p.His456= Single submitter COG6-congenital disorder of glycosylation
  • p.Ile529= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Ile612= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Ile86= Single submitter
  • p.Leu35= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Leu380= Single submitter COG6-congenital disorder of glycosylation
  • p.Leu431= Single submitter
  • p.Leu453= Single submitter COG6-congenital disorder of glycosylation
  • p.Leu481= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Leu505= Single submitter
  • p.Leu514= Single submitter COG6-congenital disorder of glycosylation
  • p.Leu596= Single submitter COG6-congenital disorder of glycosylation
  • p.Lys331= Single submitter COG6-congenital disorder of glycosylation
  • p.Lys382Arg Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Lys41= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Lys95= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Lys98= Single submitter
  • p.Phe414= Single submitter COG6-congenital disorder of glycosylation
  • p.Ser105= Single submitter
  • p.Ser112= Single submitter COG6-congenital disorder of glycosylation
  • p.Ser241= Single submitter COG6-congenital disorder of glycosylation
  • p.Ser28= Single submitter
  • p.Thr556= Single submitter
  • p.Thr654= Single submitter
  • p.Val308= Single submitter COG6-congenital disorder of glycosylation
  • p.Val576= Single submitter
  • p.Val8= Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.1167-10T>C No assertion criteria COG6-related disorder
  • c.1167-23C>T No assertion criteria COG6-related disorder
  • c.1692+3A>G No assertion criteria COG6-related disorder
  • c.297+4T>C No assertion criteria COG6-related disorder
  • c.298-8C>A No assertion criteria COG6-related disorder
  • c.*3A>G No assertion criteria COG6-related disorder
  • p.Ala284= No assertion criteria COG6-related disorder
  • p.Leu122= No assertion criteria COG6-related disorder
  • p.Tyr588= No assertion criteria COG6-related disorder

Uncertain significance 200

  • c.*1532T>G Multiple submitters COG6-congenital disorder of glycosylation
  • c.*52G>A Multiple submitters COG6-congenital disorder of glycosylation
  • p.Ala13Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg121His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg201Leu Multiple submitters Inborn genetic diseases
  • p.Arg466His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg587His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg81Ser Multiple submitters ⚠
  • p.Asn18Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn203His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn341Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn416Ser Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Asn87Ser Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Cys476Arg Multiple submitters Inborn genetic diseases
  • p.Gln472Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu100Val Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Glu233Lys Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.His40Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile635Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile79Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu122Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu186Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu261Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu266Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Met632fs Multiple submitters hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Phe383Leu Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Pro369Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro649Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr27Ser Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Thr319Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr45Met Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr554Cys Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Tyr628Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val244Ile Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Val247Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val429Ala Multiple submitters COG6-congenital disorder of glycosylation ⚠
  • p.Val487Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val631Met Multiple submitters Inborn genetic diseases ⚠
  • c.1009+6T>C Single submitter COG6-congenital disorder of glycosylation
  • c.1285-3812A>G Single submitter
  • c.1584+3A>T Single submitter
  • c.1693-11_1693-6del Single submitter Inborn genetic diseases
  • c.1746+2T>G Single submitter COG6-congenital disorder of glycosylation
  • c.1746+5G>A Single submitter
  • c.1826+3A>C Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • c.369+4T>C Single submitter COG6-congenital disorder of glycosylation
  • c.623+1G>T Single submitter COG6-congenital disorder of glycosylation
  • c.788+5G>A Single submitter COG6-congenital disorder of glycosylation
  • c.-10G>C Single submitter COG6-congenital disorder of glycosylation
  • c.-44C>G Single submitter COG6-congenital disorder of glycosylation
  • c.-50G>A Single submitter COG6-congenital disorder of glycosylation
  • c.*1001C>G Single submitter COG6-congenital disorder of glycosylation
  • c.*1181T>C Single submitter COG6-congenital disorder of glycosylation
  • c.*1196A>T Single submitter COG6-congenital disorder of glycosylation
  • c.*1210A>G Single submitter COG6-congenital disorder of glycosylation
  • c.*1241A>G Single submitter COG6-congenital disorder of glycosylation
  • c.*1248T>A Single submitter COG6-congenital disorder of glycosylation
  • c.*129C>T Single submitter COG6-congenital disorder of glycosylation
  • c.*149G>T Single submitter COG6-congenital disorder of glycosylation
  • c.*1508G>T Single submitter COG6-congenital disorder of glycosylation
  • c.*352T>G Single submitter COG6-congenital disorder of glycosylation
  • c.*443A>G Single submitter COG6-congenital disorder of glycosylation
  • c.*555G>A Single submitter COG6-congenital disorder of glycosylation
  • c.*589C>G Single submitter COG6-congenital disorder of glycosylation
  • c.*61T>C Single submitter COG6-congenital disorder of glycosylation
  • c.*720A>G Single submitter COG6-congenital disorder of glycosylation
  • c.*86T>C Single submitter COG6-congenital disorder of glycosylation
  • c.*889T>C Single submitter COG6-congenital disorder of glycosylation
  • c.*987A>G Single submitter COG6-congenital disorder of glycosylation
  • c.*9T>C Single submitter
  • n.34A>T Single submitter
  • p.Ala24Ser Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Ala251Thr Single submitter Inborn genetic diseases
  • p.Ala284Val Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Ala29Val Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Ala318Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala320Thr Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Ala371Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala495Gly Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Ala541Asp Single submitter ⚠
  • p.Ala580Thr Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Ala581Val Single submitter Inborn genetic diseases ⚠
  • p.Ala59Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala623Val Single submitter Inborn genetic diseases ⚠
  • p.Arg121Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg171Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg228Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg279Cys Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Arg279Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg306Met Single submitter ⚠
  • p.Arg360Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg466Cys Single submitter Inborn genetic diseases
  • p.Arg46Pro Single submitter ⚠
  • p.Arg520Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg622Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg70Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg72Gly Single submitter Inborn genetic diseases ⚠
  • p.Asn379His Single submitter COG6-congenital disorder of glycosylation
  • p.Asn569Asp Single submitter ⚠
  • p.Asn601Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn636Ser Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Asp107Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp464Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp479His Single submitter Inborn genetic diseases ⚠
  • p.Asp593Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys242Arg Single submitter Inborn genetic diseases
  • p.Cys32Phe Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Cys32Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys485Ser Single submitter Inborn genetic diseases
  • p.Gln161His Single submitter
  • p.Gln205His Single submitter Inborn genetic diseases ⚠
  • p.Gln256Lys Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Gln559Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln559Leu Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Gln653Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu3Asp Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Glu3Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu52Gly Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Glu637Ala Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Glu96Gln Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Gly15Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly288Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly288Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly291Arg Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Gly4= Single submitter COG6-congenital disorder of glycosylation
  • p.Gly565Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly6Arg Single submitter Inborn genetic diseases ⚠
  • p.His302Tyr Single submitter Inborn genetic diseases
  • p.His348Arg Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.His407Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile104Val Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Ile133Thr Single submitter ⚠
  • p.Ile148Met Single submitter Inborn genetic diseases ⚠
  • p.Ile148Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile192Met Single submitter Inborn genetic diseases ⚠
  • p.Ile342Met Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Ile361Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile537Met Single submitter Inborn genetic diseases ⚠
  • p.Ile635Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile79Val Single submitter Inborn genetic diseases ⚠
  • p.Leu200Trp Single submitter Inborn genetic diseases ⚠
  • p.Leu330Ser Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Leu374Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu381del Single submitter COG6-congenital disorder of glycosylation
  • p.Leu536Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu595Val Single submitter Inborn genetic diseases ⚠
  • p.Leu604= Single submitter COG6-congenital disorder of glycosylation
  • p.Lys126Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys412= Single submitter COG6-congenital disorder of glycosylation
  • p.Lys51Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys58Glu Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Lys98Arg Single submitter Inborn genetic diseases ⚠
  • p.Met252Val Single submitter Inborn genetic diseases ⚠
  • p.Met299Val Single submitter Inborn genetic diseases ⚠
  • p.Met508Val Single submitter Inborn genetic diseases ⚠
  • p.Phe585Tyr Single submitter Inborn genetic diseases ⚠
  • p.Phe602Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro290Ser Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Pro294Arg Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Pro356Ser Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Pro434Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro641Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro641Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser103Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser112Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser12Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser12Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser141Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser164Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser232Asn Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Ser378Cys Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Ser410Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser439Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser504Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser648fs Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
  • p.Ser648Ter Single submitter
  • p.Ser68Asn Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Thr179Ala Single submitter hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ⚠
  • p.Thr221= Single submitter COG6-congenital disorder of glycosylation
  • p.Thr236Pro Single submitter ⚠
  • p.Thr265Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr276= Single submitter COG6-congenital disorder of glycosylation
  • p.Thr27Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr334Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr335del Single submitter
  • p.Thr402Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr45Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr617= Single submitter COG6-congenital disorder of glycosylation
  • p.Thr654Met Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Trp314Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr223Cys Single submitter ⚠
  • p.Tyr262His Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Tyr307Cys Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Tyr638_Lys639delinsTer Single submitter
  • p.Val11Glu Single submitter Inborn genetic diseases ⚠
  • p.Val346Ile Single submitter COG6-congenital disorder of glycosylation ⚠
  • p.Val372Ile Single submitter Inborn genetic diseases ⚠
  • p.Val652Ala Single submitter Inborn genetic diseases ⚠
  • p.Val97Met Single submitter
  • p.Val9Asp Single submitter COG6-congenital disorder of glycosylation ⚠