MPI — 575 ClinVar variants
All ClinVar germline MPI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →
34 Pathogenic · 25 Pathogenic/Likely pathogenic · 77 Likely pathogenic · 23 Conflicting · 9 Benign · 10 Benign/Likely benign · 251 Likely benign · 146 Uncertain significance
Full MPI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 128
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MPI p.Arg219Gln
Pathogenic
Multiple submitters
MPI-related disorder
-
MPI p.Ile398Thr
Pathogenic/Likely pathogenic
Multiple submitters
MPI-congenital disorder of glycosylation
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MPI p.Arg152Gln
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Arg295His
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gly250Ser
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gly375Glu
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Leu201Pro
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Pro4Ser
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MPI p.Ala3Thr
Uncertain significance
Multiple submitters
MPI-related disorder
-
MPI p.Arg392His
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Arg56Gln
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Asp232Gly
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Asp80Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Glu331Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Gly393Ala
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Lys360Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Met21Val
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Ser366Pro
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Thr177Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Val158Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Val210Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Ala176Val
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Ala226Val Uncertain significance Single submitter
-
MPI p.Ala272Val
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ala288Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Ala32Val
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ala47Gly
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Arg152Leu Uncertain significance Single submitter
-
MPI p.Arg152Pro
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Arg152Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Arg29Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Arg392Cys
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Arg5Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Arg65His
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Asn401Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Asn64Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Asn64His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Asp332Val
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Asp88Asn Uncertain significance Single submitter
-
MPI p.Cys11Trp
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Cys149Arg
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Gln14His Uncertain significance Single submitter
-
MPI p.Gln15His
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gln374His
Uncertain significance
Single submitter
Inborn genetic diseases
- MPI p.Glu211Lys Uncertain significance Single submitter
-
MPI p.Glu236Ala
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Glu285Gln Uncertain significance Single submitter
-
MPI p.Glu331Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Glu42Gln
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gly265Arg
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gly354Asp
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Gly375Arg Uncertain significance Single submitter
-
MPI p.Gly57Val
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.His112Leu Uncertain significance Single submitter
-
MPI p.His200Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Leu121Pro
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Lys407Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MPI p.Met287Val Uncertain significance Single submitter
-
MPI p.Phe160Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Phe169Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Phe90Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Pro411Leu
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ser196Asn
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ser221Thr
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ser380Asn
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ser403Cys
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Thr350Ser Uncertain significance Single submitter
-
MPI p.Thr357Ala
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Thr386Ile
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Val274Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Val305Glu
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Val395Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Val86Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Ala400Val
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Ala41Thr
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Asp413Val
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Cys251Gly
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Cys283Trp
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Gly19Arg
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Ile249Val
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Met348Val
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Phe7Tyr
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Pro113Leu
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Thr143Ala
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Thr261Ala
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Thr386Ser
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Val164Met
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Val27Leu
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
Predictors split 40
The independent predictors disagree with each other — read with care.
-
MPI p.Arg328Trp
Benign/Likely benign
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Asn273Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Lys301Arg
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Pro326Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MPI p.Ser221Cys
Uncertain significance
Multiple submitters
MPI-congenital disorder of glycosylation
-
MPI p.Ala367Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Ala47Ser
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Asn133Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Asn229Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Asp344Glu
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Asp344His
Likely pathogenic
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Asp43His Uncertain significance Single submitter
-
MPI p.Gln212Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MPI p.Glu156Lys Uncertain significance Single submitter
-
MPI p.Glu266Lys
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Glu351Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Gly227Arg
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gly394Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.His128Tyr
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.His178Pro
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ile109Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Ile140Thr
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ile249Thr
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Ile303Thr
Conflicting
Single submitter
MPI-congenital disorder of glycosylation
- MPI p.Ile347Thr Likely pathogenic Single submitter
-
MPI p.Leu238Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Leu49Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Pro130Leu
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Pro340Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Pro55Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MPI p.Ser355Phe
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Thr307Ser
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Tyr255Cys
Likely pathogenic
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Tyr334Asp
Uncertain significance
Single submitter
MPI-congenital disorder of glycosylation
-
MPI p.Gly247Ser
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Gly399Arg
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Ile369Val
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Phe252Ile
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Pro165Leu
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
-
MPI p.Pro300Thr
Uncertain significance
No assertion criteria
MPI-congenital disorder of glycosylation
All MPI variants
Pathogenic 34
- p.Arg219Gln Multiple submitters MPI-related disorder ⚠
- p.Arg56fs Multiple submitters MPI-congenital disorder of glycosylation
- c.1053+2T>C Single submitter MPI-congenital disorder of glycosylation
- p.Ala41fs Single submitter MPI-congenital disorder of glycosylation
- p.Asp88fs Single submitter MPI-congenital disorder of glycosylation
- p.Cys251fs Single submitter MPI-congenital disorder of glycosylation
- p.Gln124fs Single submitter MPI-congenital disorder of glycosylation
- p.Gln15fs Single submitter MPI-congenital disorder of glycosylation
- p.Gln15Ter Single submitter MPI-congenital disorder of glycosylation
- p.Glu205Ter Single submitter MPI-congenital disorder of glycosylation
- p.Glu236fs Single submitter MPI-congenital disorder of glycosylation
- p.Glu271fs Single submitter MPI-congenital disorder of glycosylation
- p.Glu402Gly Single submitter MPI-congenital disorder of glycosylation
- p.Gly22fs Single submitter MPI-congenital disorder of glycosylation
- p.Gly265fs Single submitter MPI-congenital disorder of glycosylation
- p.Gly281Ter Single submitter MPI-congenital disorder of glycosylation
- p.His112fs Single submitter MPI-congenital disorder of glycosylation
- p.Ile249fs Single submitter MPI-congenital disorder of glycosylation
- p.Leu215_Leu216insTer Single submitter MPI-congenital disorder of glycosylation
- p.Lys69fs Single submitter MPI-congenital disorder of glycosylation
- p.Phe252fs Single submitter MPI-congenital disorder of glycosylation
- p.Pro353fs Single submitter MPI-congenital disorder of glycosylation
- p.Pro389fs Single submitter MPI-congenital disorder of glycosylation
- p.Pro4fs Single submitter MPI-congenital disorder of glycosylation
- p.Ser199fs Single submitter MPI-congenital disorder of glycosylation
- p.Ser204fs Single submitter MPI-congenital disorder of glycosylation
- p.Ser336fs Single submitter MPI-congenital disorder of glycosylation
- p.Ser380fs Single submitter MPI-congenital disorder of glycosylation
- p.Thr346fs Single submitter MPI-congenital disorder of glycosylation
- p.Trp50Ter Single submitter MPI-congenital disorder of glycosylation
- p.Trp74Ter Single submitter MPI-congenital disorder of glycosylation
- p.Tyr255fs Single submitter MPI-congenital disorder of glycosylation
- p.Val164fs Single submitter MPI-congenital disorder of glycosylation
- p.Val274fs Single submitter MPI-congenital disorder of glycosylation
Pathogenic/Likely pathogenic 25
- c.488-1G>C Multiple submitters MPI-congenital disorder of glycosylation
- p.Ala277fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Ala363fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Arg29fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Arg418His Multiple submitters MPI-congenital disorder of glycosylation
- p.Arg56Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Arg5Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Gln240Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Gln243Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Gln374Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Glu211fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Glu331fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Gly227Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Ile220fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Ile398Thr Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Leu238fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Leu335fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Lys115Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Lys218Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Phe324fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Pro341fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Ser102Leu Multiple submitters MPI-congenital disorder of glycosylation
- p.Ser355fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Ser84Ter Multiple submitters MPI-congenital disorder of glycosylation
- p.Val342fs Multiple submitters MPI-congenital disorder of glycosylation
Likely pathogenic 77
- c.145-1G>C Multiple submitters MPI-congenital disorder of glycosylation
- c.16+2T>C Multiple submitters MPI-congenital disorder of glycosylation
- c.488-2A>G Multiple submitters MPI-congenital disorder of glycosylation
- c.844+1G>A Multiple submitters MPI-congenital disorder of glycosylation
- c.845-2A>G Multiple submitters MPI-congenital disorder of glycosylation
- c.845-2del Multiple submitters MPI-congenital disorder of glycosylation
- p.Asp339fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Glu166fs Multiple submitters MPI-congenital disorder of glycosylation
- p.Ile40fs Multiple submitters MPI-congenital disorder of glycosylation
- c.1054del Single submitter MPI-congenital disorder of glycosylation
- c.144+1G>A Single submitter MPI-congenital disorder of glycosylation
- c.144+2T>C Single submitter MPI-congenital disorder of glycosylation
- c.145-1G>A Single submitter MPI-congenital disorder of glycosylation
- c.145-2A>G Single submitter MPI-congenital disorder of glycosylation
- c.15_16+5del Single submitter MPI-congenital disorder of glycosylation
- c.16+1G>A Single submitter MPI-congenital disorder of glycosylation
- c.16+1G>C Single submitter MPI-congenital disorder of glycosylation
- c.16+1G>T Single submitter MPI-congenital disorder of glycosylation
- c.17-2A>G Single submitter MPI-congenital disorder of glycosylation
- c.487+1G>A Single submitter MPI-congenital disorder of glycosylation
- c.844+2T>C Single submitter MPI-congenital disorder of glycosylation
- c.844+2T>G Single submitter MPI-congenital disorder of glycosylation
- c.845-1G>C Single submitter MPI-congenital disorder of glycosylation
- c.845-1G>T Single submitter MPI-congenital disorder of glycosylation
- c.845-2_846del Single submitter MPI-congenital disorder of glycosylation
- c.991_1053+17del Single submitter MPI-congenital disorder of glycosylation
- p.Arg219Trp Single submitter MPI-congenital disorder of glycosylation
- p.Arg322fs Single submitter MPI-congenital disorder of glycosylation
- p.Arg418Cys Single submitter MPI-congenital disorder of glycosylation
- p.Asn273fs Single submitter MPI-congenital disorder of glycosylation
- p.Asn64fs Single submitter MPI-congenital disorder of glycosylation
- p.Asp131Asn Single submitter MPI-congenital disorder of glycosylation
- p.Asp344His Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gln146Ter Single submitter MPI-congenital disorder of glycosylation
- p.Gln195Ter Single submitter MPI-congenital disorder of glycosylation
- p.Gln212Ter Single submitter MPI-congenital disorder of glycosylation
- p.Gln330fs Single submitter MPI-congenital disorder of glycosylation
- p.Gln385fs Single submitter MPI-congenital disorder of glycosylation
- p.Glu351Ter Single submitter MPI-congenital disorder of glycosylation
- p.Gly19fs Single submitter MPI-congenital disorder of glycosylation
- p.His178fs Single submitter MPI-congenital disorder of glycosylation
- p.His276fs Single submitter MPI-congenital disorder of glycosylation
- p.Ile347Thr Single submitter ⚠
- p.Ile378fs Single submitter MPI-congenital disorder of glycosylation
- p.Leu107fs Single submitter MPI-congenital disorder of glycosylation
- p.Leu194fs Single submitter MPI-congenital disorder of glycosylation
- p.Leu239fs Single submitter MPI-congenital disorder of glycosylation
- p.Leu325fs Single submitter MPI-congenital disorder of glycosylation
- p.Leu414fs Single submitter
- p.Lys85Ter Single submitter MPI-congenital disorder of glycosylation
- p.Met138Thr Single submitter MPI-congenital disorder of glycosylation
- p.Phe145fs Single submitter MPI-congenital disorder of glycosylation
- p.Phe96fs Single submitter MPI-congenital disorder of glycosylation
- p.Pro45_Tyr46insTer Single submitter MPI-congenital disorder of glycosylation
- p.Pro45fs Single submitter MPI-congenital disorder of glycosylation
- p.Ser403fs Single submitter MPI-congenital disorder of glycosylation
- p.Ser67fs Single submitter MPI-congenital disorder of glycosylation
- p.Thr293fs Single submitter MPI-congenital disorder of glycosylation
- p.Thr376fs Single submitter MPI-congenital disorder of glycosylation
- p.Thr384fs Single submitter MPI-congenital disorder of glycosylation
- p.Tyr16fs Single submitter MPI-congenital disorder of glycosylation
- p.Tyr255Cys Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Tyr278_Leu279insTer Single submitter MPI-congenital disorder of glycosylation
- p.Tyr314_Ser317delinsTer Single submitter MPI-congenital disorder of glycosylation
- p.Tyr334fs Single submitter MPI-congenital disorder of glycosylation
- p.Tyr359Ter Single submitter MPI-congenital disorder of glycosylation
- p.Val158fs Single submitter MPI-congenital disorder of glycosylation
- p.Val294fs Single submitter MPI-congenital disorder of glycosylation
- c.345+1G>A No assertion criteria MPI-congenital disorder of glycosylation
- c.488-1G>A No assertion criteria MPI-congenital disorder of glycosylation
- p.Gly247fs No assertion criteria MPI-congenital disorder of glycosylation
- p.Gly57Arg No assertion criteria MPI-congenital disorder of glycosylation
- p.His178_Leu179insTer No assertion criteria MPI-congenital disorder of glycosylation
- p.Leu30fs No assertion criteria MPI-congenital disorder of glycosylation
- p.Met1fs No assertion criteria MPI-congenital disorder of glycosylation
- p.Met268fs No assertion criteria MPI-congenital disorder of glycosylation
- p.Val210fs No assertion criteria MPI-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 23
- c.1053+15A>G Single submitter MPI-congenital disorder of glycosylation
- c.145-11T>C Single submitter MPI-congenital disorder of glycosylation
- c.487+2del Single submitter MPI-congenital disorder of glycosylation
- c.670+11T>C Single submitter MPI-congenital disorder of glycosylation
- c.671-4T>G Single submitter MPI-congenital disorder of glycosylation
- c.843_844+1del Single submitter MPI-congenital disorder of glycosylation
- p.Ala191= Single submitter MPI-congenital disorder of glycosylation
- p.Arg152Gln Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Arg295His Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Cys283= Single submitter MPI-congenital disorder of glycosylation
- p.Glu266Lys Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gly250Ser Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gly375Glu Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ile140Thr Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ile303Thr Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Leu101= Single submitter MPI-congenital disorder of glycosylation
- p.Leu201Pro Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Lys44= Single submitter MPI-congenital disorder of glycosylation
- p.Met138Ile Single submitter MPI-congenital disorder of glycosylation
- p.Met1Val Single submitter MPI-congenital disorder of glycosylation
- p.Pro126= Single submitter MPI-congenital disorder of glycosylation
- p.Pro4Ser Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Val404= Single submitter MPI-congenital disorder of glycosylation
Benign 9
- c.1053+109G>A Multiple submitters
- c.1053+31G>A Multiple submitters MPI-congenital disorder of glycosylation
- c.345+16C>T Multiple submitters MPI-congenital disorder of glycosylation
- c.*358G>A Multiple submitters MPI-congenital disorder of glycosylation
- c.*58C>T Multiple submitters MPI-congenital disorder of glycosylation
- p.Ile254= Multiple submitters MPI-congenital disorder of glycosylation
- c.16+18dup Single submitter MPI-congenital disorder of glycosylation
- c.345+164T>G Single submitter
- c.346-15del Single submitter MPI-congenital disorder of glycosylation
Benign/Likely benign 10
- c.144+16T>A Multiple submitters MPI-congenital disorder of glycosylation
- c.144+18T>A Multiple submitters MPI-congenital disorder of glycosylation
- c.144+20T>A Multiple submitters MPI-congenital disorder of glycosylation
- c.345+15G>A Multiple submitters MPI-congenital disorder of glycosylation
- c.670+9A>G Multiple submitters MPI-congenital disorder of glycosylation
- p.Arg328Trp Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Asn228= Multiple submitters MPI-congenital disorder of glycosylation
- p.Ser72Arg Multiple submitters MPI-congenital disorder of glycosylation
- p.Thr350Met Multiple submitters MPI-congenital disorder of glycosylation
- p.Val377= Multiple submitters MPI-congenital disorder of glycosylation
Likely benign 251
- c.16+16G>T Multiple submitters MPI-congenital disorder of glycosylation
- c.16+94G>A Multiple submitters
- c.17-7C>T Multiple submitters MPI-congenital disorder of glycosylation
- c.345+15_345+16delinsAT Multiple submitters MPI-congenital disorder of glycosylation
- c.345+20G>A Multiple submitters MPI-congenital disorder of glycosylation
- c.487+12A>G Multiple submitters MPI-congenital disorder of glycosylation
- p.Asn273= Multiple submitters MPI-congenital disorder of glycosylation
- p.Leu213= Multiple submitters MPI-congenital disorder of glycosylation
- p.Leu414= Multiple submitters MPI-congenital disorder of glycosylation
- p.Pro95= Multiple submitters MPI-congenital disorder of glycosylation
- p.Ser72= Multiple submitters MPI-congenital disorder of glycosylation
- c.1053+14T>C Single submitter MPI-congenital disorder of glycosylation
- c.1053+16T>C Single submitter MPI-congenital disorder of glycosylation
- c.1053+20G>C Single submitter MPI-congenital disorder of glycosylation
- c.1054-11T>C Single submitter MPI-congenital disorder of glycosylation
- c.1054-135C>A Single submitter
- c.1054-17_1054-15del Single submitter MPI-congenital disorder of glycosylation
- c.1054-6G>A Single submitter MPI-congenital disorder of glycosylation
- c.1054-7T>C Single submitter MPI-congenital disorder of glycosylation
- c.1054-8C>G Single submitter MPI-congenital disorder of glycosylation
- c.1054-9C>T Single submitter MPI-congenital disorder of glycosylation
- c.144+10G>A Single submitter MPI-congenital disorder of glycosylation
- c.144+12G>T Single submitter MPI-congenital disorder of glycosylation
- c.144+13C>T Single submitter MPI-congenital disorder of glycosylation
- c.144+15G>A Single submitter MPI-congenital disorder of glycosylation
- c.144+15G>T Single submitter MPI-congenital disorder of glycosylation
- c.144+16_144+20inv Single submitter
- c.144+19T>G Single submitter MPI-congenital disorder of glycosylation
- c.144+20T>C Single submitter MPI-congenital disorder of glycosylation
- c.144+7C>T Single submitter MPI-congenital disorder of glycosylation
- c.144+9C>G Single submitter MPI-congenital disorder of glycosylation
- c.145-10G>A Single submitter MPI-congenital disorder of glycosylation
- c.145-13C>T Single submitter MPI-congenital disorder of glycosylation
- c.145-5T>C Single submitter MPI-congenital disorder of glycosylation
- c.145-9T>C Single submitter MPI-congenital disorder of glycosylation
- c.16+11G>A Single submitter MPI-congenital disorder of glycosylation
- c.16+13C>T Single submitter MPI-congenital disorder of glycosylation
- c.16+15G>A Single submitter MPI-congenital disorder of glycosylation
- c.16+15G>C Single submitter MPI-congenital disorder of glycosylation
- c.16+15G>T Single submitter MPI-congenital disorder of glycosylation
- c.16+17G>A Single submitter MPI-congenital disorder of glycosylation
- c.16+17G>C Single submitter MPI-congenital disorder of glycosylation
- c.16+18G>T Single submitter MPI-congenital disorder of glycosylation
- c.16+19T>C Single submitter MPI-congenital disorder of glycosylation
- c.16+7C>T Single submitter MPI-congenital disorder of glycosylation
- c.16+8A>G Single submitter MPI-congenital disorder of glycosylation
- c.16+8A>T Single submitter MPI-congenital disorder of glycosylation
- c.16+9T>C Single submitter MPI-congenital disorder of glycosylation
- c.17-12C>G Single submitter MPI-congenital disorder of glycosylation
- c.17-13T>C Single submitter MPI-congenital disorder of glycosylation
- c.17-37G>A Single submitter
- c.17-4C>G Single submitter MPI-congenital disorder of glycosylation
- c.345+17G>A Single submitter MPI-congenital disorder of glycosylation
- c.345+19T>C Single submitter MPI-congenital disorder of glycosylation
- c.345+9C>G Single submitter MPI-congenital disorder of glycosylation
- c.346-10C>G Single submitter MPI-congenital disorder of glycosylation
- c.346-12G>A Single submitter MPI-congenital disorder of glycosylation
- c.346-14T>G Single submitter MPI-congenital disorder of glycosylation
- c.346-15C>T Single submitter MPI-congenital disorder of glycosylation
- c.346-16C>T Single submitter MPI-congenital disorder of glycosylation
- c.346-18C>A Single submitter MPI-congenital disorder of glycosylation
- c.346-5C>T Single submitter MPI-congenital disorder of glycosylation
- c.346-8C>T Single submitter MPI-congenital disorder of glycosylation
- c.487+10G>A Single submitter MPI-congenital disorder of glycosylation
- c.487+131G>C Single submitter
- c.487+14A>C Single submitter MPI-congenital disorder of glycosylation
- c.487+17G>A Single submitter MPI-congenital disorder of glycosylation
- c.487+7T>C Single submitter MPI-congenital disorder of glycosylation
- c.488-12G>A Single submitter MPI-congenital disorder of glycosylation
- c.488-12G>C Single submitter MPI-congenital disorder of glycosylation
- c.488-17G>A Single submitter MPI-congenital disorder of glycosylation
- c.488-4G>A Single submitter MPI-congenital disorder of glycosylation
- c.488-5T>C Single submitter MPI-congenital disorder of glycosylation
- c.488-6C>T Single submitter MPI-congenital disorder of glycosylation
- c.670+10G>A Single submitter MPI-congenital disorder of glycosylation
- c.670+13A>G Single submitter MPI-congenital disorder of glycosylation
- c.670+14T>C Single submitter MPI-congenital disorder of glycosylation
- c.670+15A>C Single submitter MPI-congenital disorder of glycosylation
- c.670+7A>G Single submitter MPI-congenital disorder of glycosylation
- c.670+8_670+9del Single submitter MPI-congenital disorder of glycosylation
- c.670+8_670+9inv Single submitter MPI-congenital disorder of glycosylation
- c.670+9A>C Single submitter MPI-congenital disorder of glycosylation
- c.670+9A>T Single submitter MPI-congenital disorder of glycosylation
- c.670+9del Single submitter MPI-congenital disorder of glycosylation
- c.670+9dup Single submitter MPI-congenital disorder of glycosylation
- c.671-13_671-12del Single submitter MPI-congenital disorder of glycosylation
- c.671-15C>G Single submitter MPI-congenital disorder of glycosylation
- c.671-15C>T Single submitter MPI-congenital disorder of glycosylation
- c.671-16G>A Single submitter MPI-congenital disorder of glycosylation
- c.671-7C>T Single submitter MPI-congenital disorder of glycosylation
- c.671-8A>T Single submitter MPI-congenital disorder of glycosylation
- c.671-9G>C Single submitter MPI-congenital disorder of glycosylation
- c.844+10A>G Single submitter MPI-congenital disorder of glycosylation
- c.844+14C>G Single submitter MPI-congenital disorder of glycosylation
- c.844+95C>T Single submitter
- c.844+9C>G Single submitter MPI-congenital disorder of glycosylation
- c.845-10G>C Single submitter MPI-congenital disorder of glycosylation
- c.845-14_845-12del Single submitter MPI-congenital disorder of glycosylation
- c.845-14G>A Single submitter MPI-congenital disorder of glycosylation
- c.845-15C>T Single submitter MPI-congenital disorder of glycosylation
- c.845-17G>T Single submitter MPI-congenital disorder of glycosylation
- c.845-18dup Single submitter MPI-congenital disorder of glycosylation
- c.845-20C>T Single submitter MPI-congenital disorder of glycosylation
- c.845-4C>A Single submitter MPI-congenital disorder of glycosylation
- p.Ala12= Single submitter MPI-congenital disorder of glycosylation
- p.Ala132= Single submitter MPI-congenital disorder of glycosylation
- p.Ala139= Single submitter MPI-congenital disorder of glycosylation
- p.Ala189= Single submitter MPI-congenital disorder of glycosylation
- p.Ala2= Single submitter MPI-congenital disorder of glycosylation
- p.Ala225= Single submitter MPI-congenital disorder of glycosylation
- p.Ala226= Single submitter MPI-congenital disorder of glycosylation
- p.Ala272= Single submitter MPI-congenital disorder of glycosylation
- p.Ala288= Single submitter MPI-congenital disorder of glycosylation
- p.Ala32= Single submitter MPI-congenital disorder of glycosylation
- p.Ala379= Single submitter MPI-congenital disorder of glycosylation
- p.Ala41= Single submitter MPI-congenital disorder of glycosylation
- p.Ala47= Single submitter MPI-congenital disorder of glycosylation
- p.Ala59= Single submitter MPI-congenital disorder of glycosylation
- p.Arg219= Single submitter MPI-congenital disorder of glycosylation
- p.Arg328= Single submitter MPI-congenital disorder of glycosylation
- p.Asn114= Single submitter MPI-congenital disorder of glycosylation
- p.Asn258= Single submitter MPI-congenital disorder of glycosylation
- p.Asp248= Single submitter MPI-congenital disorder of glycosylation
- p.Asp321= Single submitter MPI-congenital disorder of glycosylation
- p.Asp332= Single submitter MPI-congenital disorder of glycosylation
- p.Asp339= Single submitter MPI-congenital disorder of glycosylation
- p.Asp365= Single submitter MPI-congenital disorder of glycosylation
- p.Asp43= Single submitter MPI-congenital disorder of glycosylation
- p.Asp88= Single submitter MPI-congenital disorder of glycosylation
- p.Cys197= Single submitter MPI-congenital disorder of glycosylation
- p.Cys421= Single submitter MPI-congenital disorder of glycosylation
- p.Gln127= Single submitter MPI-congenital disorder of glycosylation
- p.Gln244= Single submitter MPI-congenital disorder of glycosylation
- p.Gln374= Single submitter MPI-congenital disorder of glycosylation
- p.Gln391= Single submitter MPI-congenital disorder of glycosylation
- p.Gln68= Single submitter MPI-congenital disorder of glycosylation
- p.Glu155= Single submitter MPI-congenital disorder of glycosylation
- p.Glu211= Single submitter MPI-congenital disorder of glycosylation
- p.Glu231= Single submitter MPI-congenital disorder of glycosylation
- p.Glu236= Single submitter MPI-congenital disorder of glycosylation
- p.Glu26= Single submitter MPI-congenital disorder of glycosylation
- p.Glu285= Single submitter MPI-congenital disorder of glycosylation
- p.Glu331= Single submitter MPI-congenital disorder of glycosylation
- p.Glu358= Single submitter MPI-congenital disorder of glycosylation
- p.Glu42= Single submitter MPI-congenital disorder of glycosylation
- p.Glu77= Single submitter MPI-congenital disorder of glycosylation
- p.Gly227= Single submitter MPI-congenital disorder of glycosylation
- p.Gly354= Single submitter MPI-congenital disorder of glycosylation
- p.Gly375= Single submitter MPI-congenital disorder of glycosylation
- p.Gly393= Single submitter MPI-congenital disorder of glycosylation
- p.Gly399= Single submitter MPI-congenital disorder of glycosylation
- p.Gly52= Single submitter MPI-congenital disorder of glycosylation
- p.Gly57= Single submitter MPI-congenital disorder of glycosylation
- p.Gly83= Single submitter MPI-congenital disorder of glycosylation
- p.His122= Single submitter MPI-congenital disorder of glycosylation
- p.His134= Single submitter MPI-congenital disorder of glycosylation
- p.His178= Single submitter MPI-congenital disorder of glycosylation
- p.His185= Single submitter
- p.His54= Single submitter MPI-congenital disorder of glycosylation
- p.Ile157= Single submitter MPI-congenital disorder of glycosylation
- p.Ile233= Single submitter MPI-congenital disorder of glycosylation
- p.Ile249= Single submitter MPI-congenital disorder of glycosylation
- p.Ile75= Single submitter MPI-congenital disorder of glycosylation
- p.Leu107= Single submitter MPI-congenital disorder of glycosylation
- p.Leu117= Single submitter MPI-congenital disorder of glycosylation
- p.Leu121= Single submitter MPI-congenital disorder of glycosylation
- p.Leu123= Single submitter MPI-congenital disorder of glycosylation
- p.Leu142= Single submitter MPI-congenital disorder of glycosylation
- p.Leu148= Single submitter MPI-congenital disorder of glycosylation
- p.Leu201= Single submitter MPI-congenital disorder of glycosylation
- p.Leu215= Single submitter MPI-congenital disorder of glycosylation
- p.Leu238= Single submitter MPI-congenital disorder of glycosylation
- p.Leu241= Single submitter MPI-congenital disorder of glycosylation
- p.Leu257= Single submitter MPI-congenital disorder of glycosylation
- p.Leu259= Single submitter MPI-congenital disorder of glycosylation
- p.Leu260= Single submitter MPI-congenital disorder of glycosylation
- p.Leu262= Single submitter MPI-congenital disorder of glycosylation
- p.Leu270= Single submitter MPI-congenital disorder of glycosylation
- p.Leu298= Single submitter MPI-congenital disorder of glycosylation
- p.Leu30= Single submitter MPI-congenital disorder of glycosylation
- p.Leu31= Single submitter MPI-congenital disorder of glycosylation
- p.Leu312= Single submitter MPI-congenital disorder of glycosylation
- p.Leu323= Single submitter MPI-congenital disorder of glycosylation
- p.Leu362= Single submitter MPI-congenital disorder of glycosylation
- p.Leu371= Single submitter MPI-congenital disorder of glycosylation
- p.Leu390= Single submitter MPI-congenital disorder of glycosylation
- p.Leu396= Single submitter MPI-congenital disorder of glycosylation
- p.Leu406= Single submitter MPI-congenital disorder of glycosylation
- p.Leu408= Single submitter MPI-congenital disorder of glycosylation
- p.Leu422= Single submitter MPI-congenital disorder of glycosylation
- p.Leu423= Single submitter MPI-congenital disorder of glycosylation
- p.Leu82= Single submitter MPI-congenital disorder of glycosylation
- p.Leu9= Single submitter MPI-congenital disorder of glycosylation
- p.Leu94= Single submitter MPI-congenital disorder of glycosylation
- p.Lys120= Single submitter MPI-congenital disorder of glycosylation
- p.Lys20= Single submitter MPI-congenital disorder of glycosylation
- p.Lys206= Single submitter MPI-congenital disorder of glycosylation
- p.Lys412= Single submitter MPI-congenital disorder of glycosylation
- p.Lys60= Single submitter MPI-congenital disorder of glycosylation
- p.Lys69= Single submitter MPI-congenital disorder of glycosylation
- p.Phe169= Single submitter MPI-congenital disorder of glycosylation
- p.Phe198= Single submitter MPI-congenital disorder of glycosylation
- p.Phe256= Single submitter MPI-congenital disorder of glycosylation
- p.Phe96= Single submitter MPI-congenital disorder of glycosylation
- p.Pro130= Single submitter MPI-congenital disorder of glycosylation
- p.Pro144= Single submitter MPI-congenital disorder of glycosylation
- p.Pro144Ser Single submitter Inborn genetic diseases
- p.Pro153= Single submitter MPI-congenital disorder of glycosylation
- p.Pro264= Single submitter MPI-congenital disorder of glycosylation
- p.Pro316= Single submitter MPI-congenital disorder of glycosylation
- p.Pro340= Single submitter MPI-congenital disorder of glycosylation
- p.Pro411= Single submitter MPI-congenital disorder of glycosylation
- p.Ser102= Single submitter MPI-congenital disorder of glycosylation
- p.Ser108= Single submitter MPI-congenital disorder of glycosylation
- p.Ser192= Single submitter MPI-congenital disorder of glycosylation
- p.Ser23= Single submitter MPI-congenital disorder of glycosylation
- p.Ser313= Single submitter MPI-congenital disorder of glycosylation
- p.Ser329= Single submitter MPI-congenital disorder of glycosylation
- p.Ser336= Single submitter MPI-congenital disorder of glycosylation
- p.Ser366= Single submitter MPI-congenital disorder of glycosylation
- p.Ser380= Single submitter MPI-congenital disorder of glycosylation
- p.Ter424= Single submitter MPI-congenital disorder of glycosylation
- p.Thr105= Single submitter MPI-congenital disorder of glycosylation
- p.Thr159= Single submitter MPI-congenital disorder of glycosylation
- p.Thr177= Single submitter MPI-congenital disorder of glycosylation
- p.Thr182= Single submitter MPI-congenital disorder of glycosylation
- p.Thr261= Single submitter MPI-congenital disorder of glycosylation
- p.Thr315= Single submitter MPI-congenital disorder of glycosylation
- p.Thr327= Single submitter MPI-congenital disorder of glycosylation
- p.Thr346= Single submitter MPI-congenital disorder of glycosylation
- p.Thr350= Single submitter MPI-congenital disorder of glycosylation
- p.Thr381= Single submitter MPI-congenital disorder of glycosylation
- p.Thr384= Single submitter MPI-congenital disorder of glycosylation
- p.Thr409= Single submitter MPI-congenital disorder of glycosylation
- p.Thr53= Single submitter MPI-congenital disorder of glycosylation
- p.Tyr255= Single submitter MPI-congenital disorder of glycosylation
- p.Tyr278= Single submitter MPI-congenital disorder of glycosylation
- p.Tyr334= Single submitter MPI-congenital disorder of glycosylation
- p.Tyr46= Single submitter MPI-congenital disorder of glycosylation
- p.Val100= Single submitter MPI-congenital disorder of glycosylation
- p.Val164= Single submitter MPI-congenital disorder of glycosylation
- p.Val209= Single submitter MPI-congenital disorder of glycosylation
- p.Val210= Single submitter MPI-congenital disorder of glycosylation
- p.Val217= Single submitter MPI-congenital disorder of glycosylation
- p.Val294= Single submitter MPI-congenital disorder of glycosylation
- p.Val361= Single submitter MPI-congenital disorder of glycosylation
- p.Val6= Single submitter MPI-congenital disorder of glycosylation
- p.Val86= Single submitter MPI-congenital disorder of glycosylation
- c.345+26G>A No assertion criteria MPI-congenital disorder of glycosylation
- p.Leu49= No assertion criteria MPI-related disorder
- p.Pro326Arg No assertion criteria MPI-congenital disorder of glycosylation
Uncertain significance 146
- c.-5C>T Multiple submitters MPI-congenital disorder of glycosylation
- c.*129G>C Multiple submitters MPI-congenital disorder of glycosylation
- p.Ala3Thr Multiple submitters MPI-related disorder ⚠
- p.Arg392His Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Arg56Gln Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Asn273Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp232Gly Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Asp80Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu331Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly393Ala Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Lys301Arg Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Lys360Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met21Val Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Pro326Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser204Arg Multiple submitters MPI-congenital disorder of glycosylation
- p.Ser221Cys Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Ser366Pro Multiple submitters MPI-congenital disorder of glycosylation ⚠
- p.Thr177Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val158Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val210Met Multiple submitters Inborn genetic diseases ⚠
- c.1053+3G>T Single submitter MPI-congenital disorder of glycosylation
- c.670+3G>A Single submitter MPI-congenital disorder of glycosylation
- c.845-9T>C Single submitter MPI-congenital disorder of glycosylation
- c.*103T>C Single submitter MPI-congenital disorder of glycosylation
- c.*109T>C Single submitter MPI-congenital disorder of glycosylation
- c.*176G>A Single submitter MPI-congenital disorder of glycosylation
- c.*203G>A Single submitter MPI-congenital disorder of glycosylation
- c.*205G>T Single submitter MPI-congenital disorder of glycosylation
- c.*289A>G Single submitter MPI-congenital disorder of glycosylation
- c.*312T>A Single submitter MPI-congenital disorder of glycosylation
- c.*393G>A Single submitter MPI-congenital disorder of glycosylation
- c.*441G>C Single submitter MPI-congenital disorder of glycosylation
- c.*44T>G Single submitter MPI-congenital disorder of glycosylation
- c.*483G>C Single submitter MPI-congenital disorder of glycosylation
- c.*93C>T Single submitter MPI-congenital disorder of glycosylation
- p.Ala176Val Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ala226Val Single submitter ⚠
- p.Ala272Val Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ala288Thr Single submitter Inborn genetic diseases ⚠
- p.Ala32Val Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ala367Gly Single submitter Inborn genetic diseases ⚠
- p.Ala47Gly Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ala47Ser Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Arg152Leu Single submitter ⚠
- p.Arg152Pro Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Arg152Trp Single submitter Inborn genetic diseases ⚠
- p.Arg29Gln Single submitter Inborn genetic diseases ⚠
- p.Arg392Cys Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Arg5Leu Single submitter Inborn genetic diseases ⚠
- p.Arg65His Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Asn133Ser Single submitter Inborn genetic diseases ⚠
- p.Asn229Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn401Ser Single submitter Inborn genetic diseases ⚠
- p.Asn64Asp Single submitter Inborn genetic diseases ⚠
- p.Asn64His Single submitter Inborn genetic diseases ⚠
- p.Asp332Val Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Asp344Glu Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Asp43His Single submitter ⚠
- p.Asp88Asn Single submitter ⚠
- p.Cys11Trp Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Cys149Arg Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gln14His Single submitter ⚠
- p.Gln15His Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gln212Glu Single submitter Inborn genetic diseases ⚠
- p.Gln374His Single submitter Inborn genetic diseases ⚠
- p.Glu156Lys Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu236Ala Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Glu285Gln Single submitter ⚠
- p.Glu331Gly Single submitter Inborn genetic diseases ⚠
- p.Glu351Lys Single submitter Inborn genetic diseases ⚠
- p.Glu42Gln Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gly227Arg Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gly265Arg Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gly354Asp Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Gly375Arg Single submitter ⚠
- p.Gly394Val Single submitter Inborn genetic diseases ⚠
- p.Gly57Val Single submitter MPI-congenital disorder of glycosylation ⚠
- p.His112Leu Single submitter ⚠
- p.His128Tyr Single submitter MPI-congenital disorder of glycosylation ⚠
- p.His178Pro Single submitter MPI-congenital disorder of glycosylation ⚠
- p.His200Gln Single submitter Inborn genetic diseases ⚠
- p.Ile109Val Single submitter Inborn genetic diseases ⚠
- p.Ile249Thr Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Leu121Pro Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Leu238Trp Single submitter Inborn genetic diseases ⚠
- p.Leu49Val Single submitter Inborn genetic diseases ⚠
- p.Leu62Ile Single submitter MPI-congenital disorder of glycosylation
- p.Lys407Arg Single submitter Inborn genetic diseases ⚠
- p.Met287Val Single submitter ⚠
- p.Phe160Cys Single submitter Inborn genetic diseases ⚠
- p.Phe169Ile Single submitter Inborn genetic diseases ⚠
- p.Phe90Cys Single submitter Inborn genetic diseases ⚠
- p.Pro130Leu Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Pro340Ala Single submitter Inborn genetic diseases ⚠
- p.Pro411Leu Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Pro55Ser Single submitter Inborn genetic diseases ⚠
- p.Ser196Asn Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ser221Thr Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ser355Phe Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ser380Asn Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Ser403Cys Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Thr307Ser Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Thr350Ser Single submitter ⚠
- p.Thr357Ala Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Thr386Ile Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Tyr334Asp Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Val274Ile Single submitter Inborn genetic diseases ⚠
- p.Val305Glu Single submitter MPI-congenital disorder of glycosylation ⚠
- p.Val395Met Single submitter Inborn genetic diseases ⚠
- p.Val86Ile Single submitter Inborn genetic diseases ⚠
- c.1053+6_1053+9del No assertion criteria MPI-congenital disorder of glycosylation
- c.1054-34_1054-11del No assertion criteria MPI-congenital disorder of glycosylation
- c.17-8G>A No assertion criteria MPI-congenital disorder of glycosylation
- c.487+2dup No assertion criteria MPI-congenital disorder of glycosylation
- p.Ala224= No assertion criteria MPI-congenital disorder of glycosylation
- p.Ala400Val No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Ala41Thr No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Arg5= No assertion criteria MPI-congenital disorder of glycosylation
- p.Asp413Val No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Cys251Gly No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Cys283Trp No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Cys420Ter No assertion criteria MPI-congenital disorder of glycosylation
- p.Gly19Arg No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Gly247Ser No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Gly281= No assertion criteria MPI-congenital disorder of glycosylation
- p.Gly399Arg No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Ile249Val No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Ile369Val No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Lys218= No assertion criteria MPI-congenital disorder of glycosylation
- p.Met348Val No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Phe252Ile No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Phe7Tyr No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Pro113Leu No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Pro165Leu No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Pro275= No assertion criteria MPI-congenital disorder of glycosylation
- p.Pro300Thr No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Pro4= No assertion criteria MPI-congenital disorder of glycosylation
- p.Ser318_Ser319del No assertion criteria MPI-congenital disorder of glycosylation
- p.Thr143Ala No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Thr261Ala No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Thr386Ser No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Tyr129= No assertion criteria MPI-congenital disorder of glycosylation
- p.Tyr359delinsPheAsn No assertion criteria MPI-congenital disorder of glycosylation
- p.Val164Met No assertion criteria MPI-congenital disorder of glycosylation ⚠
- p.Val27Leu No assertion criteria MPI-congenital disorder of glycosylation ⚠