DDOST — 291 ClinVar variants
All ClinVar germline DDOST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Conflicting · 35 Benign · 9 Benign/Likely benign · 95 Likely benign · 146 Uncertain significance
Full DDOST gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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.
-
DDOST p.Ser4Gly
Conflicting
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Thr383Ile
Conflicting
Single submitter
DDOST-congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DDOST c.-18T>G
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Ala11Val
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Ala219Val
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg237His
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Asn191Lys
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Asn306Ser
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Asp245Asn
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Ile178Val
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Phe404Leu
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Pro28Leu
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Pro28Ser
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Val170Ile
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Val23Gly
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Val319Met
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Val393Met
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
- DDOST c.-6A>G Uncertain significance Single submitter
- DDOST p.Ala219Glu Uncertain significance Single submitter
-
DDOST p.Ala260Val
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Ala303Val
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg237Cys
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg290Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Arg342Cys Uncertain significance Single submitter
- DDOST p.Arg342His Uncertain significance Single submitter
-
DDOST p.Arg379Gln
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Arg379Trp Uncertain significance Single submitter
- DDOST p.Arg394Gln Uncertain significance Single submitter
- DDOST p.Arg5Gln Uncertain significance Single submitter
- DDOST p.Asn234Lys Uncertain significance Single submitter
- DDOST p.Asn36Ile Uncertain significance Single submitter
- DDOST p.Asn38Ser Uncertain significance Single submitter
-
DDOST p.Asn79Lys
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Asn93Ser
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Asp334Asn
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Asp35Val
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Asp366Asn
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Asp63Ala
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Cys128Gly
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Glu339Gly Uncertain significance Single submitter
- DDOST p.Gly105Asp Uncertain significance Single submitter
-
DDOST p.Gly105Ser
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Gly184Arg Uncertain significance Single submitter
- DDOST p.Gly200Cys Uncertain significance Single submitter
- DDOST p.Gly2Val Uncertain significance Single submitter
-
DDOST p.His143Asp
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.His143Gln Uncertain significance Single submitter
-
DDOST p.Ile103Thr
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Ile140Thr
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Ile336Val Uncertain significance Single submitter
-
DDOST p.Ile343Thr
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Ile94Phe
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Leu193Trp Uncertain significance Single submitter
- DDOST p.Leu323Phe Uncertain significance Single submitter
- DDOST p.Leu33Pro Uncertain significance Single submitter
- DDOST p.Leu34Pro Uncertain significance Single submitter
-
DDOST p.Phe207Val
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Phe429Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Phe429Val Uncertain significance Single submitter
- DDOST p.Pro209Ser Uncertain significance Single submitter
- DDOST p.Pro3Arg Uncertain significance Single submitter
- DDOST p.Pro3Ser Uncertain significance Single submitter
-
DDOST p.Pro85Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Pro85Thr
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Ser243Phe
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Ser407Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Thr168Ala
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Thr214Ser Uncertain significance Single submitter
-
DDOST p.Thr383Ala
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Thr399Met
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Thr5Ser Uncertain significance Single submitter
- DDOST p.Thr61Ile Uncertain significance Single submitter
-
DDOST p.Val111Ile
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Val256Ala Uncertain significance Single submitter
-
DDOST p.Val276Met
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
Predictors split 55
The independent predictors disagree with each other — read with care.
-
DDOST p.Ala232Ser
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Ala259Val
Benign/Likely benign
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Ala415Thr
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg280Cys
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg280His
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg290His
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg298Gln
Benign
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Asn79Ser
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Gln215His
Pathogenic/Likely pathogenic
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Phe251Ser
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Ser100Asn
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Thr199Met
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Tyr272Cys
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Val170Ala
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST p.Val238Ile
Uncertain significance
Multiple submitters
DDOST-congenital disorder of glycosylation
-
DDOST c.-5G>A
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Arg265Ser Uncertain significance Single submitter
-
DDOST p.Arg290Cys
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg40Gln
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Arg48Trp
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Arg5Trp Uncertain significance Single submitter
-
DDOST p.Asp52Asn
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Gln361Arg
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Glu2Asp
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Glu301Asp Uncertain significance Single submitter
-
DDOST p.Glu56Gly
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Gly262Ser Uncertain significance Single submitter
- DDOST p.His218Leu Uncertain significance Single submitter
-
DDOST p.His384Arg
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Leu195Val
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Leu31Val Uncertain significance Single submitter
-
DDOST p.Leu37Phe
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Lys211Met
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Lys354Ile Uncertain significance Single submitter
- DDOST p.Met418Val Uncertain significance Single submitter
-
DDOST p.Phe47Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Pro120Ala Uncertain significance Single submitter
-
DDOST p.Pro209Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Pro212Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Pro261Leu
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Pro406Ser Uncertain significance Single submitter
-
DDOST p.Ser295Phe
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Ser359Gly
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Thr154Met Uncertain significance Single submitter
- DDOST p.Thr214Ile Uncertain significance Single submitter
-
DDOST p.Thr58Ile
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Thr5Ile Uncertain significance Single submitter
-
DDOST p.Tyr266Cys
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Tyr409Cys
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Val23Leu Uncertain significance Single submitter
-
DDOST p.Val299Met
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Val329Phe
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
- DDOST p.Val391Ile Uncertain significance Single submitter
-
DDOST p.Val96Ala
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
-
DDOST p.Val96Met
Uncertain significance
Single submitter
DDOST-congenital disorder of glycosylation
All DDOST variants
Pathogenic 2
- p.Gly200Asp Single submitter DDOST-congenital disorder of glycosylation
- p.Ile405fs Single submitter DDOST-congenital disorder of glycosylation
Pathogenic/Likely pathogenic 1
- p.Gln215His Multiple submitters DDOST-congenital disorder of glycosylation ⚠
Conflicting classifications of pathogenicity 3
- p.Arg265= Single submitter DDOST-congenital disorder of glycosylation
- p.Ser4Gly Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Thr383Ile Single submitter DDOST-congenital disorder of glycosylation ⚠
Benign 35
- c.1063+34dup Multiple submitters DDOST-congenital disorder of glycosylation
- c.154+34G>A Multiple submitters
- c.265+9T>A Multiple submitters DDOST-congenital disorder of glycosylation
- c.353-133C>T Multiple submitters
- c.456+18C>T Multiple submitters DDOST-congenital disorder of glycosylation
- c.551+127C>T Multiple submitters
- c.551+165C>A Multiple submitters
- c.646-16C>T Multiple submitters DDOST-congenital disorder of glycosylation
- c.646-58C>T Multiple submitters
- c.943-109G>A Multiple submitters
- c.943-116A>C Multiple submitters
- c.-12A>C Multiple submitters DDOST-congenital disorder of glycosylation
- c.*40A>G Multiple submitters DDOST-congenital disorder of glycosylation
- p.Ala22= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Arg298Gln Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Gly105= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Gly221= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Ser392= Multiple submitters DDOST-congenital disorder of glycosylation
- c.154+19G>C Single submitter DDOST-congenital disorder of glycosylation
- c.266-233A>G Single submitter
- c.551+245_551+246dup Single submitter
- c.551+254A>C Single submitter
- c.551+255A>C Single submitter
- c.551+260A>C Single submitter
- c.551+262A>C Single submitter
- c.551+265_551+268del Single submitter
- c.551+269_551+271del Single submitter
- c.551+269_551+272del Single submitter
- c.551+269_551+274del Single submitter
- c.551+288C>A Single submitter
- c.552-169AAACAA[2] Single submitter
- c.552-238G>A Single submitter
- c.795-183C>A Single submitter
- c.942+302T>A Single submitter
- c.942+34del Single submitter
Benign/Likely benign 9
- c.1170+16dup Multiple submitters DDOST-congenital disorder of glycosylation
- c.353-11G>C Multiple submitters DDOST-congenital disorder of glycosylation
- p.Ala259Val Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ala277= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Arg237= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Arg403= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Gly333= Multiple submitters DDOST-congenital disorder of glycosylation
- p.His431= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Leu12= Multiple submitters DDOST-congenital disorder of glycosylation
Likely benign 95
- c.155-31C>T Multiple submitters
- c.352+56C>A Multiple submitters
- c.352+9G>A Multiple submitters DDOST-congenital disorder of glycosylation
- c.457-14T>A Multiple submitters DDOST-congenital disorder of glycosylation
- c.551+25C>T Multiple submitters
- c.645+119C>T Multiple submitters
- c.646-14C>T Multiple submitters DDOST-congenital disorder of glycosylation
- p.Ile169= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Leu244= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Leu50= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Ser248= Multiple submitters DDOST-congenital disorder of glycosylation
- p.Ser407= Multiple submitters DDOST-congenital disorder of glycosylation
- c.1063+19C>A Single submitter DDOST-congenital disorder of glycosylation
- c.1063+19C>T Single submitter DDOST-congenital disorder of glycosylation
- c.1063+20G>A Single submitter DDOST-congenital disorder of glycosylation
- c.1064-5C>T Single submitter DDOST-congenital disorder of glycosylation
- c.1171-7_1171-5del Single submitter DDOST-congenital disorder of glycosylation
- c.1171-9C>G Single submitter DDOST-congenital disorder of glycosylation
- c.154+14C>G Single submitter DDOST-congenital disorder of glycosylation
- c.154+14C>T Single submitter DDOST-congenital disorder of glycosylation
- c.154+7G>C Single submitter DDOST-congenital disorder of glycosylation
- c.154+8C>T Single submitter DDOST-congenital disorder of glycosylation
- c.155-76dup Single submitter
- c.265+12G>A Single submitter
- c.457-9T>G Single submitter DDOST-congenital disorder of glycosylation
- c.551+11G>A Single submitter DDOST-congenital disorder of glycosylation
- c.551+17G>A Single submitter DDOST-congenital disorder of glycosylation
- c.551+264A>C Single submitter
- c.551+269C>A Single submitter
- c.551+278G>T Single submitter
- c.552-12G>A Single submitter DDOST-congenital disorder of glycosylation
- c.552-13C>T Single submitter DDOST-congenital disorder of glycosylation
- c.552-15C>G Single submitter DDOST-congenital disorder of glycosylation
- c.645+19T>C Single submitter DDOST-congenital disorder of glycosylation
- c.645+9T>C Single submitter DDOST-congenital disorder of glycosylation
- c.794+10A>G Single submitter DDOST-congenital disorder of glycosylation
- c.794+10A>T Single submitter DDOST-congenital disorder of glycosylation
- c.794+36G>A Single submitter
- c.942+13dup Single submitter DDOST-congenital disorder of glycosylation
- c.942+15G>C Single submitter DDOST-congenital disorder of glycosylation
- c.943-7A>C Single submitter
- c.-26C>A Single submitter
- c.-27G>A Single submitter
- c.-30C>T Single submitter
- c.-37T>C Single submitter
- c.*17C>T Single submitter
- c.*457A>C Single submitter
- c.*462A>G Single submitter
- p.Ala259= Single submitter DDOST-congenital disorder of glycosylation
- p.Ala260= Single submitter DDOST-congenital disorder of glycosylation
- p.Arg298= Single submitter DDOST-congenital disorder of glycosylation
- p.Arg8= Single submitter DDOST-congenital disorder of glycosylation
- p.Asn234= Single submitter DDOST-congenital disorder of glycosylation
- p.Asp104= Single submitter DDOST-congenital disorder of glycosylation
- p.Asp133= Single submitter DDOST-congenital disorder of glycosylation
- p.Asp366= Single submitter DDOST-congenital disorder of glycosylation
- p.Cys128= Single submitter DDOST-congenital disorder of glycosylation
- p.Glu402= Single submitter DDOST-congenital disorder of glycosylation
- p.Glu56= Single submitter DDOST-congenital disorder of glycosylation
- p.Gly107= Single submitter DDOST-congenital disorder of glycosylation
- p.Gly21= Single submitter DDOST-congenital disorder of glycosylation
- p.Gly421= Single submitter DDOST-congenital disorder of glycosylation
- p.Ile147Val Single submitter
- p.Ile156= Single submitter DDOST-congenital disorder of glycosylation
- p.Ile178= Single submitter DDOST-congenital disorder of glycosylation
- p.Ile405= Single submitter DDOST-congenital disorder of glycosylation
- p.Ile427= Single submitter DDOST-congenital disorder of glycosylation
- p.Ile81= Single submitter DDOST-congenital disorder of glycosylation
- p.Leu164= Single submitter DDOST-congenital disorder of glycosylation
- p.Leu193= Single submitter DDOST-congenital disorder of glycosylation
- p.Leu37= Single submitter DDOST-congenital disorder of glycosylation
- p.Leu385= Single submitter DDOST-congenital disorder of glycosylation
- p.Leu69= Single submitter DDOST-congenital disorder of glycosylation
- p.Lys435= Single submitter DDOST-congenital disorder of glycosylation
- p.Phe180= Single submitter DDOST-congenital disorder of glycosylation
- p.Phe251= Single submitter DDOST-congenital disorder of glycosylation
- p.Phe425= Single submitter DDOST-congenital disorder of glycosylation
- p.Phe75= Single submitter DDOST-congenital disorder of glycosylation
- p.Pro305= Single submitter
- p.Pro365= Single submitter DDOST-congenital disorder of glycosylation
- p.Pro406= Single submitter DDOST-congenital disorder of glycosylation
- p.Pro65= Single submitter
- p.Ser206= Single submitter DDOST-congenital disorder of glycosylation
- p.Ser359= Single submitter
- p.Ser414= Single submitter
- p.Ser438= Single submitter DDOST-congenital disorder of glycosylation
- p.Ser44= Single submitter DDOST-congenital disorder of glycosylation
- p.Thr154= Single submitter DDOST-congenital disorder of glycosylation
- p.Thr61= Single submitter DDOST-congenital disorder of glycosylation
- p.Tyr316= Single submitter
- p.Tyr386= Single submitter DDOST-congenital disorder of glycosylation
- p.Tyr412= Single submitter DDOST-congenital disorder of glycosylation
- c.*10G>A No assertion criteria DDOST-related disorder
- c.*3_*4dup No assertion criteria DDOST-related disorder
- p.Ser49= No assertion criteria DDOST-related disorder
Uncertain significance 146
- c.-18T>G Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ala11Val Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ala219Val Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ala232Ser Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ala415Thr Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Arg237His Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Arg280Cys Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Arg280His Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Arg290His Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Asn191Lys Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Asn306Ser Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Asn79Ser Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Asp245Asn Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ile178Val Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Phe251Ser Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Phe404Leu Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Pro28Leu Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Pro28Ser Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Ser100Asn Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Thr199Met Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Tyr272Cys Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Val170Ala Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Val170Ile Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Val238Ile Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Val23Gly Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Val319Met Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- p.Val393Met Multiple submitters DDOST-congenital disorder of glycosylation ⚠
- c.1064-2A>C Single submitter DDOST-congenital disorder of glycosylation
- c.1170+4A>G Single submitter DDOST-congenital disorder of glycosylation
- c.154+5G>A Single submitter DDOST-congenital disorder of glycosylation
- c.265+6G>C Single submitter DDOST-congenital disorder of glycosylation
- c.352+2T>C Single submitter DDOST-congenital disorder of glycosylation
- c.456+4A>G Single submitter DDOST-congenital disorder of glycosylation
- c.646-11T>A Single submitter DDOST-congenital disorder of glycosylation
- c.795-3C>G Single submitter DDOST-congenital disorder of glycosylation
- c.-5G>A Single submitter DDOST-congenital disorder of glycosylation ⚠
- c.-6A>G Single submitter ⚠
- c.*542TAAA[13] Single submitter
- p.Ala219Glu Single submitter ⚠
- p.Ala260Val Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ala303Val Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg122Ter Single submitter DDOST-congenital disorder of glycosylation
- p.Arg237Cys Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg265Ser Single submitter ⚠
- p.Arg290Cys Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg290Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg342Cys Single submitter ⚠
- p.Arg342His Single submitter ⚠
- p.Arg379Gln Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg379Trp Single submitter ⚠
- p.Arg394Gln Single submitter ⚠
- p.Arg40Gln Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg48Trp Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg5Trp Single submitter ⚠
- p.Asn234Lys Single submitter ⚠
- p.Asn36Ile Single submitter ⚠
- p.Asn38Ser Single submitter ⚠
- p.Asn79Lys Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Asn93Ser Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Asp334Asn Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Asp35Val Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Asp366Asn Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Asp52Asn Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Asp63Ala Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Cys128Gly Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Gln361Arg Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Glu286del Single submitter DDOST-congenital disorder of glycosylation
- p.Glu2Asp Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Glu301Asp Single submitter ⚠
- p.Glu339Gly Single submitter ⚠
- p.Glu56Gly Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly105Ser Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Gly184= Single submitter intellectual disability
- p.Gly184Arg Single submitter ⚠
- p.Gly200Cys Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly2Val Single submitter ⚠
- p.Gly300= Single submitter DDOST-congenital disorder of glycosylation
- p.His143Asp Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.His143Gln Single submitter ⚠
- p.His218Leu Single submitter ⚠
- p.His384Arg Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ile103Thr Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ile140Thr Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ile336Val Single submitter ⚠
- p.Ile343Thr Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ile94Phe Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Leu193Trp Single submitter ⚠
- p.Leu195Val Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Leu230Ile Single submitter DDOST-congenital disorder of glycosylation
- p.Leu31Val Single submitter ⚠
- p.Leu323Phe Single submitter ⚠
- p.Leu33Pro Single submitter ⚠
- p.Leu34Pro Single submitter ⚠
- p.Leu37Phe Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Lys211Met Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Lys354del Single submitter DDOST-congenital disorder of glycosylation
- p.Lys354Ile Single submitter ⚠
- p.Met418Val Single submitter ⚠
- p.Phe207Val Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Phe252del Single submitter DDOST-congenital disorder of glycosylation
- p.Phe283fs Single submitter DDOST-congenital disorder of glycosylation
- p.Phe429del Single submitter DDOST-congenital disorder of glycosylation
- p.Phe429Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Phe429Val Single submitter ⚠
- p.Phe47Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Pro120Ala Single submitter ⚠
- p.Pro209= Single submitter DDOST-congenital disorder of glycosylation
- p.Pro209Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Pro209Ser Single submitter ⚠
- p.Pro212Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Pro261Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Pro3Arg Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Pro406Ser Single submitter ⚠
- p.Pro85Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Pro85Thr Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ser243Phe Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ser295Phe Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ser359Gly Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Ser407Leu Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Thr154Met Single submitter ⚠
- p.Thr168Ala Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Thr199= Single submitter DDOST-congenital disorder of glycosylation
- p.Thr214Ile Single submitter ⚠
- p.Thr214Ser Single submitter ⚠
- p.Thr383Ala Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Thr399Met Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Thr58Ile Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Thr5Ile Single submitter ⚠
- p.Thr5Ser Single submitter ⚠
- p.Thr61Ile Single submitter ⚠
- p.Tyr266Cys Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Tyr409Cys Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Val111Ile Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Val23Leu Single submitter ⚠
- p.Val256Ala Single submitter ⚠
- p.Val276Met Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Val299= Single submitter DDOST-congenital disorder of glycosylation
- p.Val299Met Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Val329Phe Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Val391Ile Single submitter ⚠
- p.Val96Ala Single submitter DDOST-congenital disorder of glycosylation ⚠
- p.Val96Met Single submitter DDOST-congenital disorder of glycosylation ⚠