Sugi Variant

Sugi Variant/ALG12

ALG12 — 569 ClinVar variants

All ClinVar germline ALG12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

20 Pathogenic · 7 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 29 Conflicting · 38 Benign · 7 Benign/Likely benign · 220 Likely benign · 234 Uncertain significance

Full ALG12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 216

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 10

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

Predictors lean, ClinVar uncertain 92

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

Predictors split 114

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

All ALG12 variants

Pathogenic 20

  • p.Arg311fs Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Gln40fs Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Arg202Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg233fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Gln377Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Gln54Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Glu168Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe142fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser252fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr288fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Trp112Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Trp174Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Trp244Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Trp339fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr230fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr263Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr302fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr55Ter Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu158Pro No assertion criteria ALG12-congenital disorder of glycosylation
  • p.Tyr414Ter No assertion criteria ALG12-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 7

  • c.295+1G>A Multiple submitters ALG12-congenital disorder of glycosylation
  • c.768+1dup Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Arg146Gln Multiple submitters ALG12-related disorder
  • p.Asn334fs Multiple submitters Inborn genetic diseases
  • p.Gln386fs Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Leu12fs Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Thr67Met Multiple submitters ALG12-congenital disorder of glycosylation

Likely pathogenic 14

  • c.768+1G>A Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Gly101Arg Multiple submitters ALG12-related disorder
  • p.Lys416fs Multiple submitters ALG12-congenital disorder of glycosylation
  • c.1162+1G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.1162+2T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.162+1G>T Single submitter
  • c.439_469+19del Single submitter ALG12-congenital disorder of glycosylation
  • c.664+1_664+9del Single submitter ALG12-congenital disorder of glycosylation
  • c.664+1G>A Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu433fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe142Val Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser275Ile Single submitter
  • p.Thr457fs Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu480Pro No assertion criteria ALG12-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 29

  • c.163-4G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.469+14G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.470-11C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.470-12A>T Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala19= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala19Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala213= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala81Val Single submitter Inborn genetic diseases ⚠
  • p.Arg10Gln Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg120Gln Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg146Trp Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg311= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asn150Ser Single submitter Inborn genetic diseases ⚠
  • p.Cys188Tyr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly222Ala Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly62Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.His167= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu165= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu39= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu433= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro238= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro291Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro385= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro61= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr224Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr288Met Single submitter Inborn genetic diseases ⚠
  • p.Thr292Met Single submitter Inborn genetic diseases ⚠
  • p.Val454= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val454Ile Single submitter Inborn genetic diseases ⚠

Benign 38

Benign/Likely benign 7

  • c.1163-19G>A Multiple submitters ALG12-congenital disorder of glycosylation
  • c.469+13C>T Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Arg211Cys Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Arg233Gln Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Ile313= Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Leu16= Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Pro215= Multiple submitters ALG12-congenital disorder of glycosylation

Likely benign 220

  • c.163-5C>T Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Arg445= Multiple submitters ALG12-congenital disorder of glycosylation
  • c.1162+14G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.1163-13C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.1163-20G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.1163-20G>C Single submitter ALG12-congenital disorder of glycosylation
  • c.1163-4C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.1163-9T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.1238+12_1238+24del Single submitter ALG12-congenital disorder of glycosylation
  • c.1238+14A>C Single submitter ALG12-congenital disorder of glycosylation
  • c.1238+18C>A Single submitter ALG12-congenital disorder of glycosylation
  • c.1238+18C>G Single submitter ALG12-congenital disorder of glycosylation
  • c.1238+20C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.1238+7T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.1239-12C>G Single submitter ALG12-congenital disorder of glycosylation
  • c.1239-16A>G Single submitter ALG12-congenital disorder of glycosylation
  • c.1239-17C>A Single submitter ALG12-congenital disorder of glycosylation
  • c.1239-8T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.162+10C>A Single submitter ALG12-congenital disorder of glycosylation
  • c.162+11C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.162+16T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.162+18T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.162+19C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.163-14C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.163-16G>C Single submitter ALG12-congenital disorder of glycosylation
  • c.163-19C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.163-4G>T Single submitter ALG12-congenital disorder of glycosylation
  • c.163-8C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.295+19A>G Single submitter ALG12-congenital disorder of glycosylation
  • c.296-13T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.296-15A>G Single submitter ALG12-congenital disorder of glycosylation
  • c.296-18G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.296-19T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.296-8_296-7del Single submitter ALG12-congenital disorder of glycosylation
  • c.469+15G>T Single submitter ALG12-congenital disorder of glycosylation
  • c.469+17C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.469+18G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.469+8G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.470-10T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.470-12A>G Single submitter ALG12-congenital disorder of glycosylation
  • c.470-14G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.470-15C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.470-5T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.470-6T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.470-8T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.664+11C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.664+14T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.664+16_664+17del Single submitter ALG12-congenital disorder of glycosylation
  • c.665-11T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.665-15A>G Single submitter ALG12-congenital disorder of glycosylation
  • c.665-16dup Single submitter ALG12-congenital disorder of glycosylation
  • c.665-17_665-16del Single submitter ALG12-congenital disorder of glycosylation
  • c.665-20A>T Single submitter ALG12-congenital disorder of glycosylation
  • c.768+10A>C Single submitter ALG12-congenital disorder of glycosylation
  • c.768+14T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.768+14T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.769-10C>G Single submitter ALG12-congenital disorder of glycosylation
  • c.769-11C>G Single submitter ALG12-congenital disorder of glycosylation
  • c.769-12C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.769-4G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.769-5C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.992+10C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.993-6T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.993-8T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.-19G>A Single submitter
  • p.Ala160= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala162= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala179= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala21= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala290= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala316= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala356= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala362= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala397= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala428= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala436= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala442= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala81= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg10= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg120= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg146= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg166Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg211= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg270= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg417= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg449= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg486= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asn150= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asn463= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asn471= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asp388= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asp394= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asp44= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asp446= Single submitter ALG12-congenital disorder of glycosylation
  • p.Asp56= Single submitter ALG12-congenital disorder of glycosylation
  • p.Cys274= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gln137= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gln475= Single submitter ALG12-congenital disorder of glycosylation
  • p.Glu35= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly106= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly110= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly15= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly192= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly271= Single submitter
  • p.Gly282= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly327= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly344= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly350= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly373= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly439= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly5= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gly70= Single submitter ALG12-congenital disorder of glycosylation
  • p.His121= Single submitter ALG12-congenital disorder of glycosylation
  • p.His139= Single submitter ALG12-congenital disorder of glycosylation
  • p.His212= Single submitter ALG12-congenital disorder of glycosylation
  • p.His24= Single submitter ALG12-congenital disorder of glycosylation
  • p.His289= Single submitter ALG12-congenital disorder of glycosylation
  • p.His392= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile181= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile27= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile279= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile314= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile322= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile349= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile74= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ile98Val Single submitter Inborn genetic diseases
  • p.Leu105= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu111= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu12= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu14= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu140= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu152= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu154= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu158= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu161= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu17= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu187= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu191= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu193= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu194= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu199= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu210= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu219= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu243= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu268= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu277= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu301= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu304= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu340= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu347= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu352= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu382= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu391= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu440= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu441= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu45= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu451= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu462= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu464= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu484= Single submitter ALG12-congenital disorder of glycosylation
  • p.Leu69= Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe122= Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe172= Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe178= Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe317= Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe60= Single submitter ALG12-congenital disorder of glycosylation
  • p.Phe77= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro259= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro280= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro291= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro306= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro384= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro422= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro468= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro487= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro65= Single submitter ALG12-congenital disorder of glycosylation
  • p.Pro80= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser258= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser303= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser410= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser453= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser86= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ser91= Single submitter ALG12-congenital disorder of glycosylation
  • p.Ter489= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr113= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr128= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr134= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr145= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr147= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr22= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr288= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr323= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr361= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr424= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr476= Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr67= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr230= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr263= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr341= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr414= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr429= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr55= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr83= Single submitter ALG12-congenital disorder of glycosylation
  • p.Tyr94= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val102= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val107= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val126= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val157= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val204= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val214= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val293= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val374= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val383= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val402= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val408= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val455Ala Single submitter Inborn genetic diseases
  • p.Val63= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val64= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val72= Single submitter
  • p.Leu159= No assertion criteria ALG12-related disorder

Uncertain significance 234

  • c.469+5G>A Multiple submitters ALG12-congenital disorder of glycosylation
  • c.470-3C>T Multiple submitters ALG12-congenital disorder of glycosylation
  • c.*1G>C Multiple submitters ALG12-congenital disorder of glycosylation
  • c.*354G>A Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Ala135Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala179Thr Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Ala290Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala290Val Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Ala300Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala343Val Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Ala357Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala398Thr Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Ala411Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg10Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg120Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg202Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg270Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg270His Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Arg311Cys Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Arg378Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg404Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg413Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg449Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg486fs Multiple submitters ALG12-congenital disorder of glycosylation
  • p.Arg486Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn254Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp415Gly Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Asp56Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Gln386Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln386His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln475His Multiple submitters Inborn genetic diseases ⚠
  • p.Gly271Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly297Ser Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Gly350Arg Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.His139Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu281Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu304Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu406Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met129Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe109Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro215Leu Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Pro238Leu Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Pro422Leu Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Thr134Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr145Met Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Thr323Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr361Met Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Thr476Arg Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Tyr444Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val107Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val157Leu Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Val353Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val374Ile Multiple submitters ALG12-congenital disorder of glycosylation ⚠
  • p.Val455Met Multiple submitters Inborn genetic diseases ⚠
  • c.1238+5G>T Single submitter ALG12-congenital disorder of glycosylation
  • c.295+6G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.295+6G>C Single submitter ALG12-congenital disorder of glycosylation
  • c.469+4C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.664+9_664+24delinsCTCGCTGTGGGATGCTTCG Single submitter ALG12-congenital disorder of glycosylation
  • c.768+4_768+5insA Single submitter ALG12-congenital disorder of glycosylation
  • c.-231T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.-43C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.-74C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.-76T>C Single submitter ALG12-congenital disorder of glycosylation
  • c.-79+3C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.*131C>A Single submitter ALG12-congenital disorder of glycosylation
  • c.*209C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.*250C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.*276T>G Single submitter ALG12-congenital disorder of glycosylation
  • c.*33C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.*363G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.*393C>T Single submitter ALG12-congenital disorder of glycosylation
  • c.*475G>A Single submitter ALG12-congenital disorder of glycosylation
  • c.*484C>A Single submitter ALG12-congenital disorder of glycosylation
  • c.*486C>A Single submitter ALG12-congenital disorder of glycosylation
  • p.Ala160Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala162Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala170Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala177Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala209Gly Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala216Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala267Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala316Val Single submitter Inborn genetic diseases ⚠
  • p.Ala325Gly Single submitter ⚠
  • p.Ala356Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala436Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala436Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala75Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ala81Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg166Trp Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg171Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg184Gly Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg184Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg270Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg270Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg326Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg404Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg449Trp Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Arg483= Single submitter ALG12-congenital disorder of glycosylation
  • p.Arg486Gln Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Asn246His Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Asn333Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn463Lys Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Asn471Asp Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Asp415Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys131del Single submitter ALG12-congenital disorder of glycosylation
  • p.Cys144Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys144Tyr Single submitter ⚠
  • p.Cys274Tyr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Cys328Tyr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gln381Glu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gln407= Single submitter ALG12-congenital disorder of glycosylation
  • p.Gln421His Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Glu117Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu168Lys Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Glu309Lys Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Glu482Asp Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Glu59Gln Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly123Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly240Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly240Glu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly273Asp Single submitter ⚠
  • p.Gly282Asp Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly344Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly425Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Gly70Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.His212Gln Single submitter Inborn genetic diseases ⚠
  • p.His24Gln Single submitter Inborn genetic diseases ⚠
  • p.His289Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.His307Arg Single submitter Inborn genetic diseases ⚠
  • p.His448Gln Single submitter Inborn genetic diseases ⚠
  • p.Ile108Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile181del Single submitter
  • p.Ile218Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ile313Val Single submitter Inborn genetic diseases ⚠
  • p.Ile314Val Single submitter Inborn genetic diseases ⚠
  • p.Ile322Asn Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ile98Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu105Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu158Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu159Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu187Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu219Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu221Ser Single submitter Inborn genetic diseases ⚠
  • p.Leu235His Single submitter Inborn genetic diseases ⚠
  • p.Leu249Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu268Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu277His Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu281Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu296Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu301Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu320Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu332Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu379Val Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu427Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu433His Single submitter ⚠
  • p.Leu443Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu45Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Leu484_Arg486del Single submitter ALG12-congenital disorder of glycosylation
  • p.Lys32= Single submitter ALG12-congenital disorder of glycosylation
  • p.Lys336Asn Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Lys342Gln Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Lys92Arg Single submitter Inborn genetic diseases ⚠
  • p.Met125Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Met129Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Met129Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Met376Thr Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Met434Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Met434Val Single submitter Inborn genetic diseases ⚠
  • p.Met90Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Phe130Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Phe178Ser Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Phe317Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe68Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro215Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro259Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro280Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro280Ser Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro291Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro29Ser Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro318Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro384Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro384Ser Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro422Ala Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro438Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro468Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro487Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro487Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Pro65Ser Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser253Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser329Phe Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser338Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser345Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser345Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser36Ile Single submitter Inborn genetic diseases ⚠
  • p.Ser461Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser488Phe Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser79Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser86Leu Single submitter Inborn genetic diseases ⚠
  • p.Ter489Cys Single submitter ALG12-congenital disorder of glycosylation
  • p.Thr113Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr247Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr31Ala Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr430Ala Single submitter ⚠
  • p.Thr430Pro Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr447Ala Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr457Ala Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Thr465Ile Single submitter Inborn genetic diseases ⚠
  • p.Trp132Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Trp169Ser Single submitter Inborn genetic diseases ⚠
  • p.Trp255Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Trp255Ser Single submitter ⚠
  • p.Trp339Arg Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Tyr143Ser Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Tyr315Cys Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Tyr444His Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val126Gly Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val126Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val156= Single submitter ALG12-congenital disorder of glycosylation
  • p.Val204Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val206Glu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val206Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val207Phe Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val20Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val348Gly Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val353Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val389Ile Single submitter Inborn genetic diseases ⚠
  • p.Val395Leu Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val395Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val420Met Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val472Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Val479Leu Single submitter Inborn genetic diseases ⚠
  • p.Val64Ile Single submitter ALG12-congenital disorder of glycosylation ⚠
  • p.Ser36Arg No assertion criteria ALG12-related disorder ⚠