Sugi Variant

Sugi Variant/COG5

COG5 — 914 ClinVar variants

All ClinVar germline COG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 318 flagged for review →

40 Pathogenic · 5 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 33 Conflicting · 78 Benign · 8 Benign/Likely benign · 319 Likely benign · 411 Uncertain significance

Full COG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 318

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 9

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

Predictors lean, ClinVar uncertain 195

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 195

Predictors split 113

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

All COG5 variants

Pathogenic 40

  • p.Ala204fs Multiple submitters Inborn genetic diseases
  • p.Arg205Ter Multiple submitters COG5-congenital disorder of glycosylation
  • p.Arg283Ter Multiple submitters COG5-congenital disorder of glycosylation
  • p.Cys33Valfs Multiple submitters COG5-congenital disorder of glycosylation
  • p.Gly474fs Multiple submitters COG5-congenital disorder of glycosylation
  • p.Arg16Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Arg278Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Arg387fs Single submitter COG5-congenital disorder of glycosylation
  • p.Arg723fs Single submitter COG5-congenital disorder of glycosylation
  • p.Arg755Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Asp418fs Single submitter COG5-congenital disorder of glycosylation
  • p.Gln163Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln218Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln233fs Single submitter COG5-congenital disorder of glycosylation
  • p.Gln233Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln271Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln321Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln398Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln524Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Gln543Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Glu27fs Single submitter COG5-congenital disorder of glycosylation
  • p.Glu339Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Glu74Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Leu188fs Single submitter COG5-congenital disorder of glycosylation
  • p.Leu392_Trp393insTer Single submitter COG5-congenital disorder of glycosylation
  • p.Leu86Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Phe299fs Single submitter Fetal anomalies with a likely genetic cause
  • p.Pro471fs Single submitter COG5-congenital disorder of glycosylation
  • p.Ser746fs Single submitter COG5-congenital disorder of glycosylation
  • p.Thr244fs Single submitter COG5-congenital disorder of glycosylation
  • p.Thr598fs Single submitter COG5-congenital disorder of glycosylation
  • p.Trp393Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Tyr399Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Tyr416Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Val313fs Single submitter COG5-congenital disorder of glycosylation
  • p.Glu809Ter No assertion criteria COG5-congenital disorder of glycosylation
  • p.Ser155_Lys156delinsLeu No assertion criteria COG5-congenital disorder of glycosylation
  • p.Thr662Pro No assertion criteria COG5-congenital disorder of glycosylation
  • p.Val563Phe No assertion criteria COG5-congenital disorder of glycosylation
  • p.Val80fs No assertion criteria COG5-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 5

  • c.2295+2T>C Multiple submitters COG5-congenital disorder of glycosylation
  • p.Arg461Ter Multiple submitters COG5-congenital disorder of glycosylation
  • p.Arg690Ter Multiple submitters COG5-congenital disorder of glycosylation
  • p.Arg708Ter Multiple submitters COG5-congenital disorder of glycosylation
  • p.Met1Arg Multiple submitters COG5-congenital disorder of glycosylation ⚠

Likely pathogenic 20

  • c.1475+1G>A Multiple submitters COG5-congenital disorder of glycosylation
  • c.1108+1_1108+2del Single submitter COG5-congenital disorder of glycosylation
  • c.1313_1313+5del Single submitter COG5-congenital disorder of glycosylation
  • c.1686+1G>A Single submitter COG5-congenital disorder of glycosylation
  • c.1686+2T>G Single submitter COG5-congenital disorder of glycosylation
  • c.1853+1G>C Single submitter COG5-congenital disorder of glycosylation
  • c.1853+1G>T Single submitter COG5-congenital disorder of glycosylation
  • c.2168+2T>A Single submitter COG5-congenital disorder of glycosylation
  • c.328_347+25delinsGC Single submitter COG5-congenital disorder of glycosylation
  • c.347+1G>A Single submitter
  • c.348-2A>G Single submitter
  • c.418-1G>T Single submitter COG5-congenital disorder of glycosylation
  • c.418-2A>C Single submitter COG5-congenital disorder of glycosylation
  • c.539-2A>G Single submitter COG5-congenital disorder of glycosylation
  • c.669+1G>T Single submitter COG5-congenital disorder of glycosylation
  • p.Ala11fs Single submitter COG5-congenital disorder of glycosylation
  • p.Arg7Glyfs Single submitter COG5-congenital disorder of glycosylation
  • p.Ile749dup Single submitter COG5-congenital disorder of glycosylation
  • p.Pro744Leu Single submitter COG5-congenital disorder of glycosylation
  • p.Val802fs Single submitter

Conflicting classifications of pathogenicity 33

  • c.1686+7A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1750-14T>G Single submitter COG5-congenital disorder of glycosylation
  • c.1853+8C>A Single submitter COG5-congenital disorder of glycosylation
  • c.2168+9G>A Single submitter COG5-congenital disorder of glycosylation
  • c.292+14A>G Single submitter COG5-congenital disorder of glycosylation
  • c.538+10T>G Single submitter COG5-congenital disorder of glycosylation
  • c.670-9T>G Single submitter COG5-congenital disorder of glycosylation
  • c.836-9C>T Single submitter COG5-congenital disorder of glycosylation
  • c.948+12A>T Single submitter COG5-congenital disorder of glycosylation
  • c.-85_-84delGG Single submitter COG5-congenital disorder of glycosylation
  • c.*437A>G Single submitter COG5-congenital disorder of glycosylation
  • p.Ala88= Single submitter COG5-congenital disorder of glycosylation
  • p.Arg387His Single submitter Inborn genetic diseases ⚠
  • p.Arg708= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn39= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp265= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln404Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln829Ter Single submitter COG5-congenital disorder of glycosylation
  • p.Glu575= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly17Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.His421Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile186Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile609Thr Single submitter COG5-congenital disorder of glycosylation
  • p.Leu100Phe Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Leu152= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu256Phe Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Leu264Ile Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Leu679Pro Single submitter Inborn genetic diseases ⚠
  • p.Pro346Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro757= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser801Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr413Ala Single submitter Inborn genetic diseases ⚠
  • p.Tyr416Cys Single submitter COG5-congenital disorder of glycosylation ⚠

Benign 78

Benign/Likely benign 8

  • c.1750-3del Multiple submitters COG5-congenital disorder of glycosylation
  • c.538+20del Multiple submitters COG5-congenital disorder of glycosylation
  • c.539-17G>A Multiple submitters COG5-congenital disorder of glycosylation
  • c.-387C>G Multiple submitters COG5-congenital disorder of glycosylation
  • p.Ile151Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Ile245= Multiple submitters COG5-congenital disorder of glycosylation
  • p.Phe430Leu Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Thr292= Multiple submitters COG5-congenital disorder of glycosylation

Likely benign 319

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

  • c.1576-295G>A Multiple submitters
  • c.1576-67A>T Multiple submitters
  • c.1749+7G>A Multiple submitters COG5-congenital disorder of glycosylation
  • c.2296-52A>G Multiple submitters
  • c.539-70A>G Multiple submitters
  • c.669+24T>A Multiple submitters
  • p.Ala696= Multiple submitters COG5-congenital disorder of glycosylation
  • p.Ala811= Multiple submitters COG5-congenital disorder of glycosylation
  • p.His309= Multiple submitters COG5-congenital disorder of glycosylation
  • p.Leu71= Multiple submitters COG5-congenital disorder of glycosylation
  • p.Lys434= Multiple submitters COG5-congenital disorder of glycosylation
  • p.Ser617= Multiple submitters COG5-congenital disorder of glycosylation
  • p.Tyr47= Multiple submitters COG5-congenital disorder of glycosylation
  • c.1026+12G>A Single submitter COG5-congenital disorder of glycosylation
  • c.1026+17A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1027-10T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1027-11G>A Single submitter COG5-congenital disorder of glycosylation
  • c.1027-12_1027-9del Single submitter COG5-congenital disorder of glycosylation
  • c.1027-12T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1027-12T>G Single submitter COG5-congenital disorder of glycosylation
  • c.1027-15G>C Single submitter COG5-congenital disorder of glycosylation
  • c.1027-17T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1027-19T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1027-5C>T Single submitter COG5-congenital disorder of glycosylation
  • c.1108+10C>G Single submitter COG5-congenital disorder of glycosylation
  • c.1108+11T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1108+13C>T Single submitter COG5-congenital disorder of glycosylation
  • c.1109-11T>A Single submitter COG5-congenital disorder of glycosylation
  • c.1109-18T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1109-4G>A Single submitter COG5-congenital disorder of glycosylation
  • c.1313+14A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1313+150C>T Single submitter
  • c.1313+15T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1314-200_1314-199insAAAAAAAAAAAAAAA Single submitter
  • c.1314-4A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1314-6C>A Single submitter COG5-congenital disorder of glycosylation
  • c.1475+16A>T Single submitter COG5-congenital disorder of glycosylation
  • c.1475+20T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1476-14T>G Single submitter COG5-congenital disorder of glycosylation
  • c.1476-17_1476-16del Single submitter COG5-congenital disorder of glycosylation
  • c.1476-19C>T Single submitter COG5-congenital disorder of glycosylation
  • c.1476-4C>T Single submitter COG5-congenital disorder of glycosylation
  • c.1575+13_1575+16del Single submitter COG5-congenital disorder of glycosylation
  • c.1575+17A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1576-68GA[14] Single submitter
  • c.1686+12A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1686+13T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1686+17G>T Single submitter COG5-congenital disorder of glycosylation
  • c.1687-7G>A Single submitter COG5-congenital disorder of glycosylation
  • c.1749+7G>T Single submitter COG5-congenital disorder of glycosylation
  • c.1750-11T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1750-13T>A Single submitter COG5-congenital disorder of glycosylation
  • c.1750-15_1750-12del Single submitter COG5-congenital disorder of glycosylation
  • c.1750-15_1750-14insA Single submitter COG5-congenital disorder of glycosylation
  • c.1750-16T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1750-19del Single submitter COG5-congenital disorder of glycosylation
  • c.1750-20T>G Single submitter COG5-congenital disorder of glycosylation
  • c.1750-6_1750-3del Single submitter COG5-congenital disorder of glycosylation
  • c.1853+15C>T Single submitter COG5-congenital disorder of glycosylation
  • c.1853+18A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1853+19A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1854-16G>A Single submitter COG5-congenital disorder of glycosylation
  • c.2091+148del Single submitter
  • c.2092-15A>C Single submitter COG5-congenital disorder of glycosylation
  • c.2092-15A>G Single submitter COG5-congenital disorder of glycosylation
  • c.2092-17A>G Single submitter COG5-congenital disorder of glycosylation
  • c.2168+8C>A Single submitter COG5-congenital disorder of glycosylation
  • c.2168+8C>T Single submitter COG5-congenital disorder of glycosylation
  • c.2169-16T>A Single submitter COG5-congenital disorder of glycosylation
  • c.2169-17_2169-16del Single submitter COG5-congenital disorder of glycosylation
  • c.2169-4C>G Single submitter COG5-congenital disorder of glycosylation
  • c.2169-6G>A Single submitter COG5-congenital disorder of glycosylation
  • c.2169-7C>T Single submitter COG5-congenital disorder of glycosylation
  • c.2295+13G>A Single submitter COG5-congenital disorder of glycosylation
  • c.2295+18G>C Single submitter COG5-congenital disorder of glycosylation
  • c.2295+19C>G Single submitter COG5-congenital disorder of glycosylation
  • c.2295+19C>T Single submitter COG5-congenital disorder of glycosylation
  • c.2295+20C>A Single submitter COG5-congenital disorder of glycosylation
  • c.2295+8A>G Single submitter COG5-congenital disorder of glycosylation
  • c.2296-150C>T Single submitter
  • c.2296-15G>C Single submitter COG5-congenital disorder of glycosylation
  • c.2296-17G>A Single submitter COG5-congenital disorder of glycosylation
  • c.2296-189G>C Single submitter
  • c.2296-18T>C Single submitter COG5-congenital disorder of glycosylation
  • c.2296-4G>T Single submitter COG5-congenital disorder of glycosylation
  • c.2296-7C>T Single submitter COG5-congenital disorder of glycosylation
  • c.234+14T>C Single submitter COG5-congenital disorder of glycosylation
  • c.234+18G>C Single submitter COG5-congenital disorder of glycosylation
  • c.234+7C>T Single submitter COG5-congenital disorder of glycosylation
  • c.234+9G>T Single submitter COG5-congenital disorder of glycosylation
  • c.235-15A>G Single submitter COG5-congenital disorder of glycosylation
  • c.235-15del Single submitter COG5-congenital disorder of glycosylation
  • c.235-19A>G Single submitter COG5-congenital disorder of glycosylation
  • c.235-20_235-18del Single submitter COG5-congenital disorder of glycosylation
  • c.235-20C>A Single submitter COG5-congenital disorder of glycosylation
  • c.235-9G>T Single submitter COG5-congenital disorder of glycosylation
  • c.2375+12T>C Single submitter COG5-congenital disorder of glycosylation
  • c.2375+15T>C Single submitter COG5-congenital disorder of glycosylation
  • c.2375+7C>T Single submitter COG5-congenital disorder of glycosylation
  • c.2376-20_2376-17dup Single submitter COG5-congenital disorder of glycosylation
  • c.2376-20G>A Single submitter COG5-congenital disorder of glycosylation
  • c.292+10T>C Single submitter COG5-congenital disorder of glycosylation
  • c.292+120A>G Single submitter
  • c.292+16C>T Single submitter COG5-congenital disorder of glycosylation
  • c.293-11T>C Single submitter COG5-congenital disorder of glycosylation
  • c.293-12_293-11del Single submitter COG5-congenital disorder of glycosylation
  • c.293-77T>C Single submitter
  • c.347+12A>C Single submitter COG5-congenital disorder of glycosylation
  • c.347+12A>G Single submitter COG5-congenital disorder of glycosylation
  • c.347+19T>C Single submitter COG5-congenital disorder of glycosylation
  • c.347+8T>A Single submitter COG5-congenital disorder of glycosylation
  • c.348-13T>A Single submitter COG5-congenital disorder of glycosylation
  • c.348-16C>T Single submitter COG5-congenital disorder of glycosylation
  • c.348-19dup Single submitter COG5-congenital disorder of glycosylation
  • c.348-4G>A Single submitter COG5-congenital disorder of glycosylation
  • c.348-8T>C Single submitter COG5-congenital disorder of glycosylation
  • c.348-9_348-8del Single submitter COG5-congenital disorder of glycosylation
  • c.417+11A>T Single submitter COG5-congenital disorder of glycosylation
  • c.417+12C>A Single submitter COG5-congenital disorder of glycosylation
  • c.417+15T>C Single submitter COG5-congenital disorder of glycosylation
  • c.417+21C>T Single submitter
  • c.417+8C>T Single submitter COG5-congenital disorder of glycosylation
  • c.418-17T>C Single submitter COG5-congenital disorder of glycosylation
  • c.418-4A>G Single submitter COG5-congenital disorder of glycosylation
  • c.418-6del Single submitter COG5-congenital disorder of glycosylation
  • c.418-79A>C Single submitter
  • c.538+127G>T Single submitter
  • c.538+19_538+20del Single submitter COG5-congenital disorder of glycosylation
  • c.538+20T>A Single submitter COG5-congenital disorder of glycosylation
  • c.538+21A>T Single submitter COG5-congenital disorder of glycosylation
  • c.538+8T>G Single submitter COG5-congenital disorder of glycosylation
  • c.539-18T>C Single submitter COG5-congenital disorder of glycosylation
  • c.669+9A>C Single submitter COG5-congenital disorder of glycosylation
  • c.669+9A>T Single submitter COG5-congenital disorder of glycosylation
  • c.670-15C>A Single submitter COG5-congenital disorder of glycosylation
  • c.670-16C>T Single submitter COG5-congenital disorder of glycosylation
  • c.670-19C>T Single submitter COG5-congenital disorder of glycosylation
  • c.670-20C>G Single submitter COG5-congenital disorder of glycosylation
  • c.670-25CCACC[4] Single submitter COG5-congenital disorder of glycosylation
  • c.835+10T>G Single submitter COG5-congenital disorder of glycosylation
  • c.835+12G>A Single submitter COG5-congenital disorder of glycosylation
  • c.835+7A>T Single submitter COG5-congenital disorder of glycosylation
  • c.835+8T>C Single submitter COG5-congenital disorder of glycosylation
  • c.836-4C>A Single submitter COG5-congenital disorder of glycosylation
  • c.836-83G>T Single submitter
  • c.94+10C>G Single submitter COG5-congenital disorder of glycosylation
  • c.94+12G>T Single submitter COG5-congenital disorder of glycosylation
  • c.94+16C>G Single submitter COG5-congenital disorder of glycosylation
  • c.94+18G>A Single submitter COG5-congenital disorder of glycosylation
  • c.94+20C>T Single submitter COG5-congenital disorder of glycosylation
  • c.94+245dup Single submitter
  • c.94+257_94+258insCG Single submitter
  • c.94+259del Single submitter
  • c.94+8G>A Single submitter COG5-congenital disorder of glycosylation
  • c.949-17C>T Single submitter COG5-congenital disorder of glycosylation
  • c.95-101G>A Single submitter
  • c.95-128C>T Single submitter
  • c.95-12T>G Single submitter COG5-congenital disorder of glycosylation
  • c.95-145T>A Single submitter
  • c.95-17T>A Single submitter COG5-congenital disorder of glycosylation
  • c.95-220A>T Single submitter
  • c.95-5T>A Single submitter COG5-congenital disorder of glycosylation
  • c.-13G>T Single submitter COG5-congenital disorder of glycosylation
  • c.-1C>T Single submitter COG5-congenital disorder of glycosylation
  • c.-22C>T Single submitter COG5-congenital disorder of glycosylation
  • c.-298C>G Single submitter COG5-congenital disorder of glycosylation
  • c.-34G>T Single submitter
  • c.-351G>A Single submitter COG5-congenital disorder of glycosylation
  • c.-4C>T Single submitter COG5-congenital disorder of glycosylation
  • c.-50C>A Single submitter
  • c.*1111C>T Single submitter COG5-congenital disorder of glycosylation
  • c.*293T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*612G>C Single submitter COG5-congenital disorder of glycosylation
  • c.*678T>C Single submitter COG5-congenital disorder of glycosylation
  • p.Ala130= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala133= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala173= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala20= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala202= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala204= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala254= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala409= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala442= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala55= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala573= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala592= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala734= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala738= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala758= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala827= Single submitter COG5-congenital disorder of glycosylation
  • p.Ala90= Single submitter COG5-congenital disorder of glycosylation
  • p.Arg137= Single submitter COG5-congenital disorder of glycosylation
  • p.Arg203= Single submitter COG5-congenital disorder of glycosylation
  • p.Arg717= Single submitter COG5-congenital disorder of glycosylation
  • p.Arg787= Single submitter COG5-congenital disorder of glycosylation
  • p.Arg7Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg805= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn224= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn302= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn390= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn408= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn495= Single submitter COG5-congenital disorder of glycosylation
  • p.Asn591= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp308= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp428= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp484= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp615= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp647= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp72= Single submitter COG5-congenital disorder of glycosylation
  • p.Cys33= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln321= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln363= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln397= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln427= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln448= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln50= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln594= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln60= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln613= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln638= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln70= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln822= Single submitter COG5-congenital disorder of glycosylation
  • p.Gln829= Single submitter
  • p.Gln89= Single submitter COG5-congenital disorder of glycosylation
  • p.Glu178= Single submitter COG5-congenital disorder of glycosylation
  • p.Glu195= Single submitter COG5-congenital disorder of glycosylation
  • p.Glu338= Single submitter COG5-congenital disorder of glycosylation
  • p.Glu451= Single submitter COG5-congenital disorder of glycosylation
  • p.Glu523= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly14= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly164= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly165= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly17= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly279= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly282= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly32= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly4= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly5= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly6= Single submitter COG5-congenital disorder of glycosylation
  • p.Gly713= Single submitter
  • p.His53= Single submitter COG5-congenital disorder of glycosylation
  • p.His732= Single submitter COG5-congenital disorder of glycosylation
  • p.Ile260= Single submitter COG5-congenital disorder of glycosylation
  • p.Ile747= Single submitter COG5-congenital disorder of glycosylation
  • p.Ile748= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu13= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu162= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu198= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu216= Single submitter
  • p.Leu220= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu29= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu374= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu385= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu447= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu455= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu459= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu494= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu553= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu582= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu61= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu632= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu637= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu64= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu700= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu725= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu726= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu739= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu760= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu788= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu820= Single submitter COG5-congenital disorder of glycosylation
  • p.Leu86= Single submitter COG5-congenital disorder of glycosylation
  • p.Lys171= Single submitter COG5-congenital disorder of glycosylation
  • p.Lys213= Single submitter COG5-congenital disorder of glycosylation
  • p.Lys327= Single submitter COG5-congenital disorder of glycosylation
  • p.Lys625= Single submitter COG5-congenital disorder of glycosylation
  • p.Lys761= Single submitter COG5-congenital disorder of glycosylation
  • p.Phe463= Single submitter COG5-congenital disorder of glycosylation
  • p.Phe652= Single submitter COG5-congenital disorder of glycosylation
  • p.Phe705= Single submitter COG5-congenital disorder of glycosylation
  • p.Phe753= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro124= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro346= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro435= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro472= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro704= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro744= Single submitter COG5-congenital disorder of glycosylation
  • p.Pro782= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser262= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser284= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser371= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser49= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser522= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser527= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser621= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser623= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser631= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser804= Single submitter COG5-congenital disorder of glycosylation
  • p.Ser95= Single submitter COG5-congenital disorder of glycosylation
  • p.Thr105= Single submitter COG5-congenital disorder of glycosylation
  • p.Thr132= Single submitter COG5-congenital disorder of glycosylation

Uncertain significance 411

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

  • c.538+5del Multiple submitters Inborn genetic diseases
  • c.-145C>T Multiple submitters COG5-congenital disorder of glycosylation
  • c.-25C>A Multiple submitters Inborn genetic diseases ⚠
  • c.*409T>C Multiple submitters COG5-congenital disorder of glycosylation
  • c.*8A>C Multiple submitters COG5-congenital disorder of glycosylation
  • p.Ala15Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala20Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala23Pro Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Ala263Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala409Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala603Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Ala62Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala693Val Multiple submitters COG5-congenital disorder of glycosylation
  • p.Ala767Ser Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Arg214Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg675Cys Multiple submitters Inborn genetic diseases
  • p.Arg708Gln Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Arg717Gln Multiple submitters COG5-congenital disorder of glycosylation
  • p.Arg773Cys Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Asp414Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp741His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln161Arg Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Gln184Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln227Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln321Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln358Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln358Glu Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Gln448Arg Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Gln534His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln594Lys Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Gln697Glu Multiple submitters COG5-congenital disorder of glycosylation
  • p.Gln776Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln800Arg Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Gln819Pro Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Glu2Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu614Gly Multiple submitters Inborn genetic diseases
  • p.Gly165Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly280Val Multiple submitters COG5-related disorder ⚠
  • p.Gly6Asp Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Gly6Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His586Tyr Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.His83Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile107Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile121Leu Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Ile266Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ile466Met Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Ile52Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Leu13Phe Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Leu320Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Leu360Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Leu447Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu553Phe Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Leu597Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu739Met Multiple submitters Inborn genetic diseases ⚠
  • p.Lys434Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys635Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met1Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Met286Ile Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Met303Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met307Thr Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Met366Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Met422Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met589Thr Multiple submitters COG5-congenital disorder of glycosylation
  • p.Met634Leu Multiple submitters Inborn genetic diseases
  • p.Met698Val Multiple submitters Inborn genetic diseases
  • p.Met817Ile Multiple submitters Inborn genetic diseases
  • p.Met817Val Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Met825fs Multiple submitters COG5-congenital disorder of glycosylation
  • p.Phe774Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro432Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro472Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser175Asn Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Ser400Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser783Pro Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Thr105Met Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Thr46Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr610Asn Multiple submitters Inborn genetic diseases
  • p.Thr754Met Multiple submitters craniosynostosis ⚠
  • p.Tyr350Cys Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Tyr399Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr450Cys Multiple submitters COG5-congenital disorder of glycosylation ⚠
  • p.Val122Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val535Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val628Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val702Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val702Met Multiple submitters Inborn genetic diseases ⚠
  • c.1026+4T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1313+4T>C Single submitter COG5-congenital disorder of glycosylation
  • c.1314-3C>T Single submitter COG5-congenital disorder of glycosylation
  • c.1475+3A>G Single submitter COG5-congenital disorder of glycosylation
  • c.1576-3C>T Single submitter COG5-congenital disorder of glycosylation
  • c.2091+4_2091+11del Single submitter COG5-congenital disorder of glycosylation
  • c.2091+6T>C Single submitter COG5-congenital disorder of glycosylation
  • c.22_23delinsTT Single submitter
  • c.2296-6C>G Single submitter COG5-congenital disorder of glycosylation
  • c.2296-7C>G Single submitter COG5-congenital disorder of glycosylation
  • c.2376-1G>A Single submitter COG5-congenital disorder of glycosylation
  • c.292+6_292+14del Single submitter COG5-congenital disorder of glycosylation
  • c.347+6G>A Single submitter COG5-congenital disorder of glycosylation
  • c.417+4G>C Single submitter COG5-congenital disorder of glycosylation
  • c.538+5G>T Single submitter COG5-congenital disorder of glycosylation
  • c.669+10A>G Single submitter COG5-congenital disorder of glycosylation
  • c.669+5_669+7del Single submitter COG5-congenital disorder of glycosylation
  • c.835+4T>C Single submitter COG5-congenital disorder of glycosylation
  • c.835+6G>A Single submitter COG5-congenital disorder of glycosylation
  • c.836-11C>T Single submitter COG5-congenital disorder of glycosylation
  • c.94+3A>G Single submitter COG5-congenital disorder of glycosylation
  • c.948+5A>G Single submitter COG5-congenital disorder of glycosylation
  • c.-12G>A Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-15C>G Single submitter Inborn genetic diseases ⚠
  • c.-15C>T Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-169G>T Single submitter COG5-congenital disorder of glycosylation
  • c.-1C>G Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-20T>A Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-291C>T Single submitter COG5-congenital disorder of glycosylation
  • c.-292C>G Single submitter COG5-congenital disorder of glycosylation
  • c.-2A>C Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-30A>T Single submitter COG5-congenital disorder of glycosylation
  • c.-367C>G Single submitter COG5-congenital disorder of glycosylation
  • c.-3A>G Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-56G>A Single submitter COG5-congenital disorder of glycosylation
  • c.-56G>C Single submitter COG5-congenital disorder of glycosylation
  • c.-8C>T Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.-9C>T Single submitter COG5-congenital disorder of glycosylation ⚠
  • c.*1243T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*1340A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*1426A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*1449G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*1468G>T Single submitter COG5-congenital disorder of glycosylation
  • c.*1484T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*157T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*162T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*165C>T Single submitter COG5-congenital disorder of glycosylation
  • c.*1720A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*1742G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*220G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*237T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*247T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*306C>A Single submitter COG5-congenital disorder of glycosylation
  • c.*468C>A Single submitter COG5-congenital disorder of glycosylation
  • c.*498T>G Single submitter COG5-congenital disorder of glycosylation
  • c.*52G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*550A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*589G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*606A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*612G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*617A>C Single submitter COG5-congenital disorder of glycosylation
  • c.*622C>T Single submitter COG5-congenital disorder of glycosylation
  • c.*634T>C Single submitter COG5-congenital disorder of glycosylation
  • c.*862C>G Single submitter COG5-congenital disorder of glycosylation
  • c.*865C>G Single submitter COG5-congenital disorder of glycosylation
  • c.*867A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*89A>G Single submitter COG5-congenital disorder of glycosylation
  • c.*986G>A Single submitter COG5-congenital disorder of glycosylation
  • c.*997G>A Single submitter COG5-congenital disorder of glycosylation
  • p.Ala109Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala15Pro Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala204Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala23Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala276Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala276Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala293Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala294Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala294Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala297Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala491Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala512Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala512Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala532Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala548Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala581Val Single submitter Inborn genetic diseases
  • p.Ala62Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala65Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala664Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala677Asp Single submitter COG5-congenital disorder of glycosylation
  • p.Ala701Thr Single submitter COG5-congenital disorder of glycosylation
  • p.Ala729Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala734Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala738Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala738Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala758Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala797Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala797Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala824Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala827Pro Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ala90Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg116Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg146Gln Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg146Pro Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg146Trp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg150His Single submitter Inborn genetic diseases ⚠
  • p.Arg167Ile Single submitter Inborn genetic diseases ⚠
  • p.Arg16Gln Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg205Gln Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg214His Single submitter Inborn genetic diseases ⚠
  • p.Arg214Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg283Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg296His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg387Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg387Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg395Cys Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg395His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg461Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg475His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg545Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg545Ser Single submitter ⚠
  • p.Arg675His Single submitter Inborn genetic diseases
  • p.Arg717Trp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg723Lys Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg773His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg787Met Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg792Lys Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg805Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Arg82Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn126His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn153Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn196Asp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn210Tyr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn237Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn259Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn291Ile Single submitter ⚠
  • p.Asn302Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn39Asp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asn39Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn39Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp187Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp197Glu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp197Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp250Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp31= Single submitter COG5-congenital disorder of glycosylation
  • p.Asp329Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp343Tyr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp36Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp436Asn Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp464Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp484His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp741Tyr Single submitter Inborn genetic diseases
  • p.Asp779Asn Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Asp786Tyr Single submitter COG5-congenital disorder of glycosylation
  • p.Cys314Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Cys314Phe Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln111Leu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln139Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln376Glu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln529Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln534Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln558His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln60Lys Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln613Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln765His Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gln819Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Glu192Gly Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Glu40Lys Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Glu575Val Single submitter COG5-congenital disorder of glycosylation
  • p.Glu614Asp Single submitter COG5-congenital disorder of glycosylation
  • p.Glu636Lys Single submitter COG5-congenital disorder of glycosylation
  • p.Glu768Asp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Glu784Asp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly219Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly229Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly229Glu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly280Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly280Glu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly473Ser Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly474Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly530Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly639Asp Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly639Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Gly686Arg Single submitter COG5-congenital disorder of glycosylation
  • p.Gly740Glu Single submitter COG5-congenital disorder of glycosylation
  • p.His309Asn Single submitter Inborn genetic diseases ⚠
  • p.His319_Gln321del Single submitter COG5-congenital disorder of glycosylation
  • p.His557Gln Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.His651Pro Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.His732Tyr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile148Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile149Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile151Lys Single submitter COG5-congenital disorder of glycosylation
  • p.Ile169Met Single submitter Inborn genetic diseases ⚠
  • p.Ile186Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile191Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile245Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile340Val Single submitter Inborn genetic diseases ⚠
  • p.Ile429Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile466Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile466Val Single submitter Inborn genetic diseases ⚠
  • p.Ile490Val Single submitter Inborn genetic diseases ⚠
  • p.Ile536Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile579Thr Single submitter COG5-congenital disorder of glycosylation
  • p.Ile604Val Single submitter Inborn genetic diseases ⚠
  • p.Ile665Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile674Thr Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile680Leu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile680Val Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Ile68Leu Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Leu145Arg Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Leu152Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu154Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu188Pro Single submitter COG5-congenital disorder of glycosylation ⚠
  • p.Leu206Phe Single submitter COG5-congenital disorder of glycosylation ⚠