ALG9 — 374 ClinVar variants
All ClinVar germline ALG9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
13 Pathogenic · 5 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 15 Conflicting · 30 Benign · 12 Benign/Likely benign · 107 Likely benign · 173 Uncertain significance
Full ALG9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ALG9 p.Ala232Pro
Conflicting
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg584Trp
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ALG9 p.Arg112Cys
Uncertain significance
Multiple submitters
familial cystic renal disease
-
ALG9 p.Ile130Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG9 p.Phe501Tyr
Uncertain significance
Multiple submitters
Gillessen-Kaesbach-Nishimura syndrome
-
ALG9 p.Phe590Leu
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Tyr109Cys
Uncertain significance
Multiple submitters
Gillessen-Kaesbach-Nishimura syndrome
-
ALG9 p.Tyr306Cys
Uncertain significance
Multiple submitters
Gillessen-Kaesbach-Nishimura syndrome
-
ALG9 p.Ala175Thr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ala203Asp
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ala215Ser
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ala389Glu
Uncertain significance
Single submitter
ALG9-related disorder
-
ALG9 p.Ala73Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg370Ile
Uncertain significance
Single submitter
ALG9-associated autosomal dominant polycystic kidney disease
-
ALG9 p.Arg469Lys
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg533Thr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Cys144Arg
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
- ALG9 p.Glu44Asp Uncertain significance Single submitter
- ALG9 p.Glu478Gln Uncertain significance Single submitter
-
ALG9 p.Glu530Lys
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Gly226Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Gly294Arg
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Gly37Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Gly618Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Ile260Met
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile359Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile360Thr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile462Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Leu45Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Met354Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Met549Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Phe139Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Phe184Cys
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Phe573Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro22Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Pro451Arg
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro553Ser
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro589Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ser213Tyr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Thr20Lys
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Thr424Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Thr461Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Trp303Arg
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Tyr304His
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val178Ile
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val285Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val471Ala
Uncertain significance
No assertion criteria
ALG9-related disorder
Predictors split 64
The independent predictors disagree with each other — read with care.
-
ALG9 p.Ala389Val
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ala585Thr
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg517Gln
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg607Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG9 p.Arg607Trp
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Asn315Ser
Uncertain significance
Multiple submitters
Gillessen-Kaesbach-Nishimura syndrome
-
ALG9 p.Asp296Glu
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Gln526Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG9 p.Ile535Ser
Benign/Likely benign
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Leu259Phe
Uncertain significance
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ser17Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ALG9 p.Ser255Leu
Benign/Likely benign
Multiple submitters
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val289Ile
Benign
Multiple submitters
Gillessen-Kaesbach-Nishimura syndrome
-
ALG9 p.Ala231Thr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ala421Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Arg247Gly
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg247Ser
Conflicting
Single submitter
ALG9-related disorder
-
ALG9 p.Arg409Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg42Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Arg455Gln
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg455Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Arg517Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ALG9 p.Arg554Gln Uncertain significance Single submitter
-
ALG9 p.Arg554Trp
Conflicting
Single submitter
Inborn genetic diseases
-
ALG9 p.Asn561Ser
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Asp490Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Gln364Arg
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Glu467Lys
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Glu500Asp
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Glu511Gly
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
- ALG9 p.Gly344Asp Uncertain significance Single submitter
-
ALG9 p.His293Gln
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.His339Tyr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile224Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile224Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile359Met
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile497Val
Conflicting
Single submitter
Gillessen-Kaesbach-Nishimura syndrome
-
ALG9 p.Ile535Thr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ile537Thr
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Leu179Phe
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Leu381Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Lys276Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Lys63Arg
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Met204Val
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Met523Val
Likely benign
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Phe239Ile
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro265Ser
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro302Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro365Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Pro460Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ser417Leu
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Thr199Ser
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Thr291Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Thr461Ile
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Tyr156His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ALG9 p.Tyr272Cys
Conflicting
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Tyr587Cys
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Tyr598His
Conflicting
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val161Ala
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val588Phe
Conflicting
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Val599Ile
Uncertain significance
Single submitter
ALG9-congenital disorder of glycosylation
-
ALG9 p.Ala280Val
Benign
No assertion criteria
autosomal dominant polycystic liver disease
-
ALG9 p.Arg517Leu
Benign
No assertion criteria
autosomal dominant polycystic liver disease
-
ALG9 p.Gly58Arg
Uncertain significance
No assertion criteria
ALG9-related disorder
All ALG9 variants
Pathogenic 13
- c.896_1602del Single submitter familial cystic renal disease
- p.Arg481Ter Single submitter ALG9-congenital disorder of glycosylation
- p.Gly512Ter Single submitter ALG9-associated autosomal dominant polycystic kidney disease
- p.Met331fs Single submitter ALG9-congenital disorder of glycosylation
- p.Phe252fs Single submitter ALG9-congenital disorder of glycosylation
- p.Phe433fs Single submitter ALG9-congenital disorder of glycosylation
- p.Ser388fs Single submitter ALG9-associated autosomal dominant polycystic kidney disease
- p.Thr43fs Single submitter ALG9-congenital disorder of glycosylation
- p.Trp254Ter Single submitter autosomal dominant polycystic kidney disease
- p.Trp565Ter Single submitter familial cystic renal disease
- p.Arg370Lys No assertion criteria polycystic kidney disease 1
- p.Leu487Pro No assertion criteria ALG9-congenital disorder of glycosylation
- p.Trp227Ter No assertion criteria polycystic kidney disease 1
Pathogenic/Likely pathogenic 5
- c.566-1G>A Multiple submitters ALG9-congenital disorder of glycosylation
- p.Arg143Ter Multiple submitters Gillessen-Kaesbach-Nishimura syndrome
- p.Arg409fs Multiple submitters ALG9-associated autosomal dominant polycystic kidney disease
- p.Trp248Ter Multiple submitters ALG9-congenital disorder of glycosylation
- p.Tyr287Cys Multiple submitters Gillessen-Kaesbach-Nishimura syndrome
Likely pathogenic 19
- c.896-2A>G Multiple submitters Gillessen-Kaesbach-Nishimura syndrome
- c.131+1G>C Single submitter ALG9-congenital disorder of glycosylation
- c.1324+2T>C Single submitter ALG9-congenital disorder of glycosylation
- c.1602+1G>A Single submitter ALG9-congenital disorder of glycosylation
- c.1605_1608del Single submitter ALG9-congenital disorder of glycosylation
- c.701+1G>A Single submitter ALG9-congenital disorder of glycosylation
- c.789+1G>A Single submitter ALG9-congenital disorder of glycosylation
- p.Ala175fs Single submitter ALG9-associated autosomal dominant polycystic kidney disease
- p.Ala23fs Single submitter ALG9-congenital disorder of glycosylation
- p.Arg171Ter Single submitter ALG9-congenital disorder of glycosylation
- p.Asn77fs Single submitter ALG9-congenital disorder of glycosylation
- p.Cys71Ter Single submitter ALG9-associated autosomal dominant polycystic kidney disease
- p.Glu551Ter Single submitter ALG9-congenital disorder of glycosylation
- p.His366Arg Single submitter Gillessen-Kaesbach-Nishimura syndrome
- p.Leu177Ter Single submitter ALG9-congenital disorder of glycosylation
- p.Leu235fs Single submitter ALG9-congenital disorder of glycosylation
- p.Ser188Ter Single submitter ALG9-congenital disorder of glycosylation
- p.Ser499Ter Single submitter ALG9-congenital disorder of glycosylation
- p.Val404fs Single submitter ALG9-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 15
- c.1173+2T>A Single submitter Gillessen-Kaesbach-Nishimura syndrome
- c.*1680G>T Single submitter ALG9-congenital disorder of glycosylation
- p.Ala232Pro Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg247Ser Single submitter ALG9-related disorder ⚠
- p.Arg455Ter Single submitter ALG9-associated autosomal dominant polycystic kidney disease
- p.Arg554Trp Single submitter Inborn genetic diseases ⚠
- p.Arg584Trp Single submitter Inborn genetic diseases ⚠
- p.Ile497Val Single submitter Gillessen-Kaesbach-Nishimura syndrome ⚠
- p.Pro553= Single submitter ALG9-congenital disorder of glycosylation
- p.Ser417= Single submitter ALG9-congenital disorder of glycosylation
- p.Thr461= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr272Cys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Tyr595= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr598His Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Val588Phe Single submitter ALG9-congenital disorder of glycosylation ⚠
Benign 30
- c.131+185C>G Multiple submitters
- c.132-13T>G Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-14T>G Multiple submitters Gillessen-Kaesbach-Nishimura syndrome
- c.132-15T>G Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-17T>G Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-370A>G Multiple submitters
- c.132-376G>A Multiple submitters
- c.1473-14T>C Multiple submitters Gillessen-Kaesbach-Nishimura syndrome
- c.406-7C>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.*1848G>A Multiple submitters ALG9-congenital disorder of glycosylation
- p.Val289Ile Multiple submitters Gillessen-Kaesbach-Nishimura syndrome ⚠
- c.1018+19G>A Single submitter ALG9-congenital disorder of glycosylation
- c.132-13del Single submitter ALG9-congenital disorder of glycosylation
- c.132-50G>A Single submitter
- c.1324+304A>T Single submitter
- c.1325-243A>C Single submitter
- c.1602+10449A>G Single submitter ALG9-congenital disorder of glycosylation
- c.1733+104GT[12] Single submitter
- c.1733+104GT[13] Single submitter
- c.1734-17del Single submitter ALG9-congenital disorder of glycosylation
- c.271-236dup Single submitter
- c.271-80G>A Single submitter
- c.405+117A>G Single submitter
- c.702-287G>C Single submitter
- c.895+299del Single submitter
- c.895+322T>C Single submitter
- c.896-124C>G Single submitter
- c.*1671T>C Single submitter ALG9-congenital disorder of glycosylation
- p.Ala280Val No assertion criteria autosomal dominant polycystic liver disease ⚠
- p.Arg517Leu No assertion criteria autosomal dominant polycystic liver disease ⚠
Benign/Likely benign 12
- c.132-11C>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-12dup Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-12G>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-13_132-12insTG Multiple submitters ALG9-congenital disorder of glycosylation
- c.132-18T>G Multiple submitters ALG9-congenital disorder of glycosylation
- c.405+7G>A Multiple submitters ALG9-congenital disorder of glycosylation
- c.790-11C>T Multiple submitters ALG9-congenital disorder of glycosylation
- p.His444= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Ile535Ser Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Pro513Leu Multiple submitters ALG9-congenital disorder of glycosylation
- p.Ser255Leu Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Tyr598= Multiple submitters ALG9-congenital disorder of glycosylation
Likely benign 107
- c.132-16T>G Multiple submitters ALG9-congenital disorder of glycosylation
- c.1325-11C>G Multiple submitters ALG9-congenital disorder of glycosylation
- c.405+8C>A Multiple submitters ALG9-congenital disorder of glycosylation
- c.477-15T>C Multiple submitters ALG9-congenital disorder of glycosylation
- c.566-92A>G Multiple submitters
- c.789+11T>G Multiple submitters Gillessen-Kaesbach-Nishimura syndrome
- c.790-4T>C Multiple submitters ALG9-congenital disorder of glycosylation
- c.896-3C>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.*2743T>C Multiple submitters ALG9-congenital disorder of glycosylation
- p.Ala438= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Ala73= Multiple submitters
- p.Arg7= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Asn315= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Glu452= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Gly383= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Leu179= Multiple submitters ALG9-congenital disorder of glycosylation
- p.Ser255= Multiple submitters ALG9-congenital disorder of glycosylation
- c.1018+26G>A Single submitter
- c.1019-134G>A Single submitter
- c.1173+18G>A Single submitter ALG9-congenital disorder of glycosylation
- c.1174-192C>T Single submitter
- c.1174-5A>T Single submitter ALG9-congenital disorder of glycosylation
- c.131+10C>T Single submitter ALG9-congenital disorder of glycosylation
- c.131+7G>C Single submitter ALG9-congenital disorder of glycosylation
- c.132-13_132-12insTTG Single submitter ALG9-congenital disorder of glycosylation
- c.132-13_132-12insTTTTG Single submitter ALG9-congenital disorder of glycosylation
- c.132-13_132-12insTTTTTTTTG Single submitter ALG9-congenital disorder of glycosylation
- c.132-19T>G Single submitter ALG9-congenital disorder of glycosylation
- c.132-20T>G Single submitter ALG9-congenital disorder of glycosylation
- c.1324+10C>T Single submitter ALG9-congenital disorder of glycosylation
- c.1325-17A>G Single submitter ALG9-congenital disorder of glycosylation
- c.1602+12A>G Single submitter ALG9-congenital disorder of glycosylation
- c.1602+14del Single submitter ALG9-congenital disorder of glycosylation
- c.1733+104GT[14] Single submitter
- c.1733+19A>G Single submitter ALG9-congenital disorder of glycosylation
- c.1733+240C>T Single submitter
- c.1733+38G>C Single submitter
- c.1733+9C>T Single submitter ALG9-congenital disorder of glycosylation
- c.1734-15T>C Single submitter ALG9-congenital disorder of glycosylation
- c.1734-16dup Single submitter ALG9-congenital disorder of glycosylation
- c.1734-48A>G Single submitter
- c.270+119dup Single submitter
- c.270+17G>C Single submitter ALG9-congenital disorder of glycosylation
- c.271-10G>A Single submitter ALG9-congenital disorder of glycosylation
- c.405+13C>G Single submitter ALG9-congenital disorder of glycosylation
- c.405+9A>T Single submitter ALG9-congenital disorder of glycosylation
- c.476+109G>A Single submitter
- c.702-11C>T Single submitter ALG9-congenital disorder of glycosylation
- c.702-9_702-8del Single submitter ALG9-congenital disorder of glycosylation
- c.790-20T>C Single submitter ALG9-congenital disorder of glycosylation
- c.895+119T>C Single submitter
- c.895+11G>A Single submitter ALG9-congenital disorder of glycosylation
- c.896-153G>A Single submitter
- c.896-32C>G Single submitter
- c.896-7C>T Single submitter ALG9-congenital disorder of glycosylation
- c.-11C>T Single submitter
- c.-26C>T Single submitter
- c.*1220C>T Single submitter ALG9-congenital disorder of glycosylation
- c.*1681dup Single submitter
- c.*3750A>C Single submitter ALG9-congenital disorder of glycosylation
- c.*971C>T Single submitter ALG9-congenital disorder of glycosylation
- p.Ala125= Single submitter
- p.Arg455= Single submitter
- p.Arg9= Single submitter ALG9-congenital disorder of glycosylation
- p.Asn313= Single submitter ALG9-congenital disorder of glycosylation
- p.Asp459= Single submitter ALG9-congenital disorder of glycosylation
- p.Asp490= Single submitter
- p.Asp82= Single submitter ALG9-congenital disorder of glycosylation
- p.Glu500= Single submitter ALG9-congenital disorder of glycosylation
- p.Glu511= Single submitter ALG9-congenital disorder of glycosylation
- p.Glu555= Single submitter ALG9-congenital disorder of glycosylation
- p.Glu57= Single submitter ALG9-congenital disorder of glycosylation
- p.Glu98= Single submitter ALG9-congenital disorder of glycosylation
- p.Gly182= Single submitter ALG9-congenital disorder of glycosylation
- p.Gly47= Single submitter ALG9-congenital disorder of glycosylation
- p.His120= Single submitter ALG9-congenital disorder of glycosylation
- p.His168= Single submitter ALG9-congenital disorder of glycosylation
- p.Ile603Val Single submitter ALG9-congenital disorder of glycosylation
- p.Leu233= Single submitter ALG9-congenital disorder of glycosylation
- p.Leu282= Single submitter ALG9-congenital disorder of glycosylation
- p.Leu322= Single submitter ALG9-congenital disorder of glycosylation
- p.Leu378= Single submitter ALG9-congenital disorder of glycosylation
- p.Leu439= Single submitter ALG9-congenital disorder of glycosylation
- p.Leu74= Single submitter ALG9-congenital disorder of glycosylation
- p.Lys249= Single submitter ALG9-congenital disorder of glycosylation
- p.Lys477= Single submitter ALG9-congenital disorder of glycosylation
- p.Met523Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Phe440= Single submitter ALG9-congenital disorder of glycosylation
- p.Pro228= Single submitter
- p.Pro346= Single submitter ALG9-congenital disorder of glycosylation
- p.Thr133= Single submitter ALG9-congenital disorder of glycosylation
- p.Thr464= Single submitter ALG9-congenital disorder of glycosylation
- p.Thr548= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr158= Single submitter
- p.Tyr272= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr274= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr304= Single submitter
- p.Tyr401= Single submitter
- p.Tyr450= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr570= Single submitter ALG9-congenital disorder of glycosylation
- p.Tyr87= Single submitter ALG9-congenital disorder of glycosylation
- p.Val138= Single submitter ALG9-congenital disorder of glycosylation
- c.*323A>G No assertion criteria ALG9-related disorder
- c.*4C>T No assertion criteria ALG9-related disorder
- p.Arg34= No assertion criteria ALG9-related disorder
- p.Arg69= No assertion criteria ALG9-related disorder
- p.Tyr87His No assertion criteria ALG9-related disorder
Uncertain significance 173
- c.*1607C>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.*1624A>C Multiple submitters ALG9-congenital disorder of glycosylation
- c.*1722C>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.*2473A>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.*2474A>T Multiple submitters ALG9-congenital disorder of glycosylation
- c.*314G>A Multiple submitters ALG9-congenital disorder of glycosylation
- c.*523T>C Multiple submitters ALG9-congenital disorder of glycosylation
- p.Ala389Val Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Ala585Thr Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Arg112Cys Multiple submitters familial cystic renal disease ⚠
- p.Arg517Gln Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Arg607Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg607Trp Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Asn315Ser Multiple submitters Gillessen-Kaesbach-Nishimura syndrome ⚠
- p.Asp296Glu Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Gln526Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln594Ter Multiple submitters ALG9-associated autosomal dominant polycystic kidney disease
- p.Ile130Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu259Phe Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Phe501Tyr Multiple submitters Gillessen-Kaesbach-Nishimura syndrome ⚠
- p.Phe590Leu Multiple submitters ALG9-congenital disorder of glycosylation ⚠
- p.Ser17Thr Multiple submitters Inborn genetic diseases ⚠
- p.Tyr109Cys Multiple submitters Gillessen-Kaesbach-Nishimura syndrome ⚠
- p.Tyr306Cys Multiple submitters Gillessen-Kaesbach-Nishimura syndrome ⚠
- c.1174-19T>G Single submitter ALG9-congenital disorder of glycosylation
- c.131+5G>A Single submitter ALG9-congenital disorder of glycosylation
- c.131+5G>T Single submitter ALG9-congenital disorder of glycosylation
- c.131+6T>G Single submitter
- c.1324+6T>G Single submitter ALG9-congenital disorder of glycosylation
- c.1603-509A>G Single submitter ALG9-congenital disorder of glycosylation
- c.1733+1G>A Single submitter ALG9-congenital disorder of glycosylation
- c.896-12T>G Single submitter ALG9-congenital disorder of glycosylation
- c.-30G>A Single submitter ALG9-congenital disorder of glycosylation
- c.-58A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*1297A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*1311A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*1420C>G Single submitter ALG9-congenital disorder of glycosylation
- c.*1536T>C Single submitter ALG9-congenital disorder of glycosylation
- c.*1679del Single submitter
- c.*1687A>T Single submitter ALG9-congenital disorder of glycosylation
- c.*1766A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*1832A>C Single submitter ALG9-congenital disorder of glycosylation
- c.*1977A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*2114C>T Single submitter ALG9-congenital disorder of glycosylation
- c.*2230A>C Single submitter ALG9-congenital disorder of glycosylation
- c.*2233A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*2287A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*229A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*2339T>G Single submitter ALG9-congenital disorder of glycosylation
- c.*2342G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*2414T>G Single submitter ALG9-congenital disorder of glycosylation
- c.*243G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*2443T>A Single submitter ALG9-congenital disorder of glycosylation
- c.*2457G>T Single submitter ALG9-congenital disorder of glycosylation
- c.*2472T>A Single submitter ALG9-congenital disorder of glycosylation
- c.*2473_*2474insT Single submitter
- c.*2479del Single submitter
- c.*2592T>C Single submitter ALG9-congenital disorder of glycosylation
- c.*2597G>C Single submitter ALG9-congenital disorder of glycosylation
- c.*2648G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*2907A>T Single submitter ALG9-congenital disorder of glycosylation
- c.*305C>T Single submitter ALG9-congenital disorder of glycosylation
- c.*306G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*3079C>T Single submitter ALG9-congenital disorder of glycosylation
- c.*3125A>T Single submitter ALG9-congenital disorder of glycosylation
- c.*3175G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*3212C>T Single submitter ALG9-congenital disorder of glycosylation
- c.*3213G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*3423T>C Single submitter ALG9-congenital disorder of glycosylation
- c.*3471A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*3519C>A Single submitter ALG9-congenital disorder of glycosylation
- c.*365A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*3757T>C Single submitter ALG9-congenital disorder of glycosylation
- c.*3798A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*4141G>C Single submitter ALG9-congenital disorder of glycosylation
- c.*532C>T Single submitter ALG9-congenital disorder of glycosylation
- c.*726C>G Single submitter ALG9-congenital disorder of glycosylation
- c.*763T>C Single submitter ALG9-congenital disorder of glycosylation
- c.*773A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*77G>A Single submitter ALG9-congenital disorder of glycosylation
- c.*788A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*823A>G Single submitter ALG9-congenital disorder of glycosylation
- c.*906C>A Single submitter ALG9-congenital disorder of glycosylation
- p.Ala175Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ala203Asp Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ala215Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ala231Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ala238Phe Single submitter
- p.Ala389Glu Single submitter ALG9-related disorder ⚠
- p.Ala421Pro Single submitter Inborn genetic diseases ⚠
- p.Ala73Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg247Gly Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg370Ile Single submitter ALG9-associated autosomal dominant polycystic kidney disease ⚠
- p.Arg409Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg42Trp Single submitter Inborn genetic diseases ⚠
- p.Arg455Gln Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg455Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg469Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg517Trp Single submitter Inborn genetic diseases ⚠
- p.Arg533Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Arg554Gln Single submitter ⚠
- p.Asn561Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Asp490Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Cys144Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Gln364Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Glu44Asp Single submitter ⚠
- p.Glu467Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Glu478Gln Single submitter ⚠
- p.Glu500Asp Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Glu511Gly Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Glu530Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Gly226Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Gly294Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Gly344Asp Single submitter ⚠
- p.Gly37Asp Single submitter Inborn genetic diseases ⚠
- p.Gly618Asp Single submitter Inborn genetic diseases ⚠
- p.His293Gln Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.His339Tyr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile224Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile224Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile260Met Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile359Met Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile359Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile360Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile462Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile535Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ile537Thr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Leu179Phe Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Leu381Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Leu395= Single submitter
- p.Leu45Ser Single submitter Inborn genetic diseases ⚠
- p.Lys276Arg Single submitter Inborn genetic diseases ⚠
- p.Lys399= Single submitter ALG9-congenital disorder of glycosylation
- p.Lys63Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Met204Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Met354Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Met549Val Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Phe139Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Phe184Cys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Phe239Ile Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Phe573Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro22Ala Single submitter Inborn genetic diseases ⚠
- p.Pro265Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro302Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro365Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro451Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro460Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro553Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Pro589Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ser213Tyr Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Ser393Arg Single submitter ALG9-congenital disorder of glycosylation
- p.Ser417Leu Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Thr199Ser Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Thr20Lys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Thr291Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Thr424Ala Single submitter Inborn genetic diseases ⚠
- p.Thr461Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Thr461Ile Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Trp303Arg Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Trp479Ter Single submitter
- p.Tyr156His Single submitter Inborn genetic diseases ⚠
- p.Tyr304His Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Tyr587Cys Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Tyr93= Single submitter ALG9-congenital disorder of glycosylation
- p.Val161Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Val178Ile Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Val285Ala Single submitter ALG9-congenital disorder of glycosylation ⚠
- p.Val404= Single submitter ALG9-congenital disorder of glycosylation
- p.Val475= Single submitter ALG9-congenital disorder of glycosylation
- p.Val599Ile Single submitter ALG9-congenital disorder of glycosylation ⚠
- c.131+6T>A No assertion criteria ALG9-related disorder
- p.Gly58Arg No assertion criteria ALG9-related disorder ⚠
- p.Val471Ala No assertion criteria ALG9-related disorder ⚠