MOGS — 579 ClinVar variants
All ClinVar germline MOGS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 300 flagged for review →
19 Pathogenic · 5 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 12 Conflicting · 2 Benign · 14 Benign/Likely benign · 193 Likely benign · 323 Uncertain significance
Full MOGS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 300
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MOGS p.Gly409Arg
Likely pathogenic
Single submitter
MOGS-congenital disorder of glycosylation
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MOGS p.Arg506Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MOGS p.Arg563Gln
Conflicting
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg708His
Conflicting
Single submitter
Inborn genetic diseases
-
MOGS p.Arg779Gln
Conflicting
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln377Arg
Conflicting
Single submitter
Inborn genetic diseases
-
MOGS p.Gly824Asp
Conflicting
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.His617Gln
Conflicting
Single submitter
MOGS-congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 230
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 230
-
MOGS p.Ala22Glu
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala292Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ala41Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ala631Val
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala688Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg241His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg288Gln
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg33Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg495Gln
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg497Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg535Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg587Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg609His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg69Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg812Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Asn261Ser
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp530Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Cys137Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Cys602Tyr
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln159Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Gln286His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Gln347Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Glu14Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Glu487Asp
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Glu5Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Gly269Glu
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly35Ser
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly401Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Gly407Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Gly485Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ile402Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ile489Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Leu133Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Leu713Pro
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro145Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Pro294Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Pro748His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ser58Leu
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Ser743Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Thr197Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Thr358Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Thr375Ile
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Thr612Arg
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Thr612Met
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Thr659Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Tyr104Ser
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Tyr146Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ala13Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala199Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
- MOGS p.Ala223Thr Uncertain significance Single submitter
-
MOGS p.Ala254Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala292Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala348Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala393Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala427Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala507Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala510Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala54Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala621Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala624Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala646Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala661Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala778Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg110Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg134Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg21Lys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg24Pro
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg280Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg280His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg296His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Arg309Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg351Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg3Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg3Trp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg441Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Arg446Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg468Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Arg540His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg561His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg565Trp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg587Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg596Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg667Lys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg674Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg674Pro
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg678Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg678Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg6Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg700Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg70Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg70Trp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg729Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg7Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg815Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg820Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg820His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Arg9His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Asn267Thr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asn511Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Asn742His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asn757Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asn790Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Asp152Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp152His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp252Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp414Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Asp599His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp654Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp654Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln139Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln159Pro
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln226Lys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln316Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln342Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln388Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln552Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gln670His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Glu149Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Glu220Asp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Glu295Gly
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Glu370Lys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Glu487Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Glu642Lys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Glu835Asp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly129Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly140Arg
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly144Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gly178Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly196Asp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly238Arg
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly251Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly26Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gly299Val
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly302Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly313Arg
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly315Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly32Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly397Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly416Arg
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
- MOGS p.Gly472Val Uncertain significance Single submitter
-
MOGS p.Gly482Ala
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly4Ala
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly4Asp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
- MOGS p.Gly564Glu Uncertain significance Single submitter
-
MOGS p.Gly677Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gly677Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gly764Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gly824Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.His160Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.His160Tyr
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
Predictors split 62
The independent predictors disagree with each other — read with care.
-
MOGS p.Ala292Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ala510Thr
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Ala780Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg280Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg371His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg461Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg468Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg497Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg561Cys
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg613Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg720Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg788His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg797Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Asp252Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Asp718Asn
Uncertain significance
Multiple submitters
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly317Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Gly354Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Leu643Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Pro219Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Pro350Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Ser231Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MOGS p.Arg134Trp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
- MOGS p.Arg158Gly Uncertain significance Single submitter
-
MOGS p.Arg241Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MOGS p.Arg296Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg371Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg468Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Arg563Trp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
- MOGS p.Arg601Gln Uncertain significance Single submitter
-
MOGS p.Arg609Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg708Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg751Gln
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg788Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Arg797His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Asp718Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln388His
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gln777Pro
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Glu337Lys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly153Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Gly317Arg
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly619Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly650Glu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Gly671Trp
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Leu627Pro
Likely pathogenic
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro101Ser
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro246Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro350Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Pro433Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro555Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Pro668Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro669Leu
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Pro747Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Pro775Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Ser331Phe
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Ser559Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Thr274Ile
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Thr375Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Tyr738Cys
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Val188Met
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Val791Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MOGS p.Val792Ala
Uncertain significance
Single submitter
MOGS-congenital disorder of glycosylation
-
MOGS p.Phe652Leu
Pathogenic
No assertion criteria
MOGS-congenital disorder of glycosylation
All MOGS variants
Pathogenic 19
- p.Gln124Ter Multiple submitters MOGS-congenital disorder of glycosylation
- p.Ala19fs Single submitter MOGS-congenital disorder of glycosylation
- p.Ala360fs Single submitter MOGS-congenital disorder of glycosylation
- p.Arg506Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Arg601Ter Single submitter
- p.Asp141fs Single submitter MOGS-congenital disorder of glycosylation
- p.Asp212fs Single submitter MOGS-congenital disorder of glycosylation
- p.Gln408fs Single submitter MOGS-congenital disorder of glycosylation
- p.His151fs Single submitter MOGS-congenital disorder of glycosylation
- p.Ile402fs Single submitter MOGS-congenital disorder of glycosylation
- p.Leu383fs Single submitter MOGS-congenital disorder of glycosylation
- p.Lys278fs Single submitter MOGS-congenital disorder of glycosylation
- p.Pro294fs Single submitter MOGS-congenital disorder of glycosylation
- p.Trp184Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Trp284Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Trp462Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Trp474Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Arg486Thr No assertion criteria MOGS-congenital disorder of glycosylation
- p.Phe652Leu No assertion criteria MOGS-congenital disorder of glycosylation ⚠
Pathogenic/Likely pathogenic 5
- p.Arg495Ter Multiple submitters MOGS-related disorder
- p.Gln505Ter Multiple submitters MOGS-congenital disorder of glycosylation
- p.Glu295fs Multiple submitters MOGS-congenital disorder of glycosylation
- p.Glu418fs Multiple submitters MOGS-congenital disorder of glycosylation
- p.Val216fs Multiple submitters MOGS-related disorder
Likely pathogenic 11
- c.353-1G>A Single submitter MOGS-congenital disorder of glycosylation
- p.Arg446Ter Single submitter
- p.Arg535Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Arg700Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Asp152fs Single submitter MOGS-congenital disorder of glycosylation
- p.Gly401Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Gly409Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Leu627Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro350fs Single submitter MOGS-congenital disorder of glycosylation
- p.Tyr769His Single submitter MOGS-congenital disorder of glycosylation
- p.Arg110His No assertion criteria MOGS-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 12
- p.Ala19= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala621_Glu622insTer Single submitter MOGS-congenital disorder of glycosylation
- p.Arg167= Single submitter Inborn genetic diseases
- p.Arg241Cys Single submitter Inborn genetic diseases ⚠
- p.Arg506Gln Single submitter Inborn genetic diseases ⚠
- p.Arg563Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg708His Single submitter Inborn genetic diseases ⚠
- p.Arg779Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln377Arg Single submitter Inborn genetic diseases ⚠
- p.Gly824Asp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.His617Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Tyr685= Single submitter MOGS-congenital disorder of glycosylation
Benign 2
- c.580-295dup Single submitter
- p.Gly386= Single submitter MOGS-congenital disorder of glycosylation
Benign/Likely benign 14
- p.Arg29Gly Multiple submitters MOGS-congenital disorder of glycosylation
- p.Arg613Gln Multiple submitters MOGS-congenital disorder of glycosylation
- p.Arg678Trp Multiple submitters MOGS-congenital disorder of glycosylation
- p.Asp239Asn Multiple submitters MOGS-congenital disorder of glycosylation
- p.Asp529= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Glu171= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Glu648= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Gly4= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Gly785Ser Multiple submitters MOGS-congenital disorder of glycosylation
- p.Ile415Met Multiple submitters MOGS-congenital disorder of glycosylation
- p.Pro293Ser Multiple submitters MOGS-congenital disorder of glycosylation
- p.Pro294Leu Multiple submitters MOGS-congenital disorder of glycosylation
- p.Pro704= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Val673Ile Multiple submitters MOGS-congenital disorder of glycosylation
Likely benign 193
- c.579+18C>T Multiple submitters MOGS-congenital disorder of glycosylation
- c.580-16C>A Multiple submitters MOGS-congenital disorder of glycosylation
- p.Arg110= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Asp183= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Asp481= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Asp527Glu Multiple submitters MOGS-congenital disorder of glycosylation
- p.Gly125= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Gly222Arg Multiple submitters MOGS-congenital disorder of glycosylation
- p.Gly671= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Gly770= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Leu503= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Leu722= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Leu761= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Pro114= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Ser465= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Thr594= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Tyr99= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Val48= Multiple submitters MOGS-congenital disorder of glycosylation
- p.Val498= Multiple submitters MOGS-congenital disorder of glycosylation
- c.352+18C>T Single submitter MOGS-congenital disorder of glycosylation
- c.352+19G>A Single submitter MOGS-congenital disorder of glycosylation
- c.352+9G>A Single submitter MOGS-congenital disorder of glycosylation
- c.353-19G>T Single submitter MOGS-congenital disorder of glycosylation
- c.579+18C>G Single submitter MOGS-congenital disorder of glycosylation
- c.579+19C>T Single submitter MOGS-congenital disorder of glycosylation
- c.580-13G>A Single submitter MOGS-congenital disorder of glycosylation
- c.580-14C>T Single submitter MOGS-congenital disorder of glycosylation
- c.580-16C>G Single submitter MOGS-congenital disorder of glycosylation
- c.580-19G>T Single submitter MOGS-congenital disorder of glycosylation
- c.580-21_580-20delinsG Single submitter
- c.580-27_580-18del Single submitter MOGS-congenital disorder of glycosylation
- c.580-275del Single submitter
- c.580-295_580-294dup Single submitter
- c.776+11G>A Single submitter MOGS-congenital disorder of glycosylation
- c.776+20G>A Single submitter MOGS-congenital disorder of glycosylation
- c.776+9G>A Single submitter MOGS-congenital disorder of glycosylation
- c.777-10C>T Single submitter
- c.777-15C>T Single submitter MOGS-congenital disorder of glycosylation
- c.777-16T>C Single submitter MOGS-congenital disorder of glycosylation
- c.777-17A>G Single submitter MOGS-congenital disorder of glycosylation
- c.777-18dup Single submitter MOGS-congenital disorder of glycosylation
- c.777-6T>G Single submitter MOGS-congenital disorder of glycosylation
- c.777-7C>G Single submitter MOGS-congenital disorder of glycosylation
- c.777-8C>A Single submitter MOGS-congenital disorder of glycosylation
- c.777-9C>T Single submitter MOGS-congenital disorder of glycosylation
- c.-44C>T Single submitter
- c.-52G>C Single submitter
- c.-77G>C Single submitter
- p.Ala254= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala292= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala360Thr Single submitter Inborn genetic diseases
- p.Ala394= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala470= Single submitter
- p.Ala507= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala537= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala588= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala646= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala717= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala732= Single submitter MOGS-congenital disorder of glycosylation
- p.Ala733= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg24= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg280= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg461= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg506= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg535= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg563= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg565= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg601= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg667= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg708= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg720= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg779= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg812= Single submitter MOGS-congenital disorder of glycosylation
- p.Arg815= Single submitter MOGS-congenital disorder of glycosylation
- p.Asn790= Single submitter MOGS-congenital disorder of glycosylation
- p.Asp141= Single submitter MOGS-congenital disorder of glycosylation
- p.Asp425= Single submitter MOGS-congenital disorder of glycosylation
- p.Asp527= Single submitter MOGS-congenital disorder of glycosylation
- p.Asp566= Single submitter MOGS-congenital disorder of glycosylation
- p.Asp566Glu Single submitter MOGS-congenital disorder of glycosylation
- p.Asp584= Single submitter MOGS-congenital disorder of glycosylation
- p.Asp718= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln159= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln342= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln388= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln552= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln663= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln670= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln684= Single submitter MOGS-congenital disorder of glycosylation
- p.Glu191= Single submitter MOGS-congenital disorder of glycosylation
- p.Glu366= Single submitter MOGS-congenital disorder of glycosylation
- p.Glu421= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly118= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly140= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly182= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly25= Single submitter
- p.Gly25Glu Single submitter MOGS-congenital disorder of glycosylation
- p.Gly26= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly302= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly313= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly409= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly416= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly472= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly476= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly619= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly628= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly739= Single submitter MOGS-congenital disorder of glycosylation
- p.Gly816= Single submitter MOGS-congenital disorder of glycosylation
- p.His102= Single submitter MOGS-congenital disorder of glycosylation
- p.His455= Single submitter MOGS-congenital disorder of glycosylation
- p.His509= Single submitter MOGS-congenital disorder of glycosylation
- p.His590= Single submitter MOGS-congenital disorder of glycosylation
- p.His745= Single submitter MOGS-congenital disorder of glycosylation
- p.His784= Single submitter MOGS-congenital disorder of glycosylation
- p.His823= Single submitter MOGS-congenital disorder of glycosylation
- p.Ile402= Single submitter MOGS-congenital disorder of glycosylation
- p.Ile415= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu168= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu205= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu270= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu272= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu298= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu349= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu361= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu399= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu412= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu46= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu475= Single submitter
- p.Leu490= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu517= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu534= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu541= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu548= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu578= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu582= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu611= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu640= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu643= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu672= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu683= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu698= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu699= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu701= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu709= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu712= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu766= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu787= Single submitter MOGS-congenital disorder of glycosylation
- p.Leu831= Single submitter MOGS-congenital disorder of glycosylation
- p.Lys381= Single submitter MOGS-congenital disorder of glycosylation
- p.Lys660= Single submitter MOGS-congenital disorder of glycosylation
- p.Lys782= Single submitter MOGS-congenital disorder of glycosylation
- p.Phe172= Single submitter MOGS-congenital disorder of glycosylation
- p.Phe240= Single submitter MOGS-congenital disorder of glycosylation
- p.Phe737= Single submitter MOGS-congenital disorder of glycosylation
- p.Phe822= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro112= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro12= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro289= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro311= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro431= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro439= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro464= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro499= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro557= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro579= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro696= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro725= Single submitter MOGS-congenital disorder of glycosylation
- p.Pro79= Single submitter MOGS-congenital disorder of glycosylation
- p.Ser589= Single submitter MOGS-congenital disorder of glycosylation
- p.Ser730= Single submitter MOGS-congenital disorder of glycosylation
- p.Ser734= Single submitter MOGS-congenital disorder of glycosylation
- p.Ser735= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr126= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr127= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr189= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr234= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr358= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr612= Single submitter MOGS-congenital disorder of glycosylation
- p.Thr705= Single submitter MOGS-congenital disorder of glycosylation
- p.Tyr406= Single submitter MOGS-congenital disorder of glycosylation
- p.Tyr560= Single submitter MOGS-congenital disorder of glycosylation
- p.Val188= Single submitter MOGS-congenital disorder of glycosylation
- p.Val203= Single submitter MOGS-congenital disorder of glycosylation
- p.Val210= Single submitter MOGS-congenital disorder of glycosylation
- p.Val262= Single submitter MOGS-congenital disorder of glycosylation
- p.Val277= Single submitter MOGS-congenital disorder of glycosylation
- p.Val424= Single submitter MOGS-congenital disorder of glycosylation
- p.Val44= Single submitter MOGS-congenital disorder of glycosylation
- p.Val458= Single submitter MOGS-congenital disorder of glycosylation
- p.Val72= Single submitter MOGS-congenital disorder of glycosylation
- p.Val795= Single submitter MOGS-congenital disorder of glycosylation
- p.Gln798= No assertion criteria MOGS-related disorder
- p.His771= No assertion criteria MOGS-related disorder
Uncertain significance 323
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala22Glu Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Ala292Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala292Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala41Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala510Thr Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Ala631Val Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Ala688Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala780Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg241His Multiple submitters Inborn genetic diseases ⚠
- p.Arg280Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg288Gln Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Arg33Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg371His Multiple submitters Inborn genetic diseases ⚠
- p.Arg441Gln Multiple submitters MOGS-congenital disorder of glycosylation
- p.Arg461Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg468Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg495Gln Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Arg497Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg497Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg535Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg561Cys Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Arg587Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg609His Multiple submitters Inborn genetic diseases ⚠
- p.Arg613Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg674Gln Multiple submitters Inborn genetic diseases
- p.Arg674Trp Multiple submitters Inborn genetic diseases
- p.Arg69Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg720Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg788His Multiple submitters Inborn genetic diseases ⚠
- p.Arg797Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg812Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn261Ser Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Asp252Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp530Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp718Asn Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Cys137Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys602Tyr Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Gln159Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gln286His Multiple submitters Inborn genetic diseases ⚠
- p.Gln347Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln808Lys Multiple submitters Inborn genetic diseases
- p.Glu14Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu487Asp Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Glu5Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly269Glu Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Gly317Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly354Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly35Ser Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Gly401Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly407Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly485Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile402Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile489Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu133Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu643Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu664fs Multiple submitters MOGS-congenital disorder of glycosylation
- p.Leu713Pro Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Pro145Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro219Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro294Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro350Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro575Ser Multiple submitters Inborn genetic diseases
- p.Pro748His Multiple submitters Inborn genetic diseases ⚠
- p.Ser231Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser58Leu Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Ser743Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser743Ter Multiple submitters MOGS-related disorder
- p.Thr197Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr358Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr375Ile Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Thr612Arg Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Thr612Met Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Thr659Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr104Ser Multiple submitters MOGS-congenital disorder of glycosylation ⚠
- p.Tyr146Asp Multiple submitters Inborn genetic diseases ⚠
- c.579+4A>G Single submitter
- c.579+6G>A Single submitter MOGS-congenital disorder of glycosylation
- p.Ala13Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala199Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala223Thr Single submitter ⚠
- p.Ala254Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala292Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala348Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala393Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala427Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala494Thr Single submitter MOGS-congenital disorder of glycosylation
- p.Ala507Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala510Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala54Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala621Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala624Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala646Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala661Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala778Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ala834fs Single submitter MOGS-congenital disorder of glycosylation
- p.Arg110Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg134Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg134Trp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg158Gly Single submitter ⚠
- p.Arg21Lys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg24Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg280Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg280His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg296Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg296His Single submitter Inborn genetic diseases ⚠
- p.Arg309Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg33_Gly35del Single submitter MOGS-congenital disorder of glycosylation
- p.Arg351Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg371Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg3Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg3Trp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg441Trp Single submitter Inborn genetic diseases ⚠
- p.Arg446Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg468Gln Single submitter Inborn genetic diseases ⚠
- p.Arg468Gly Single submitter Inborn genetic diseases ⚠
- p.Arg540His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg561His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg563Trp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg565Trp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg587Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg596Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg601Gln Single submitter ⚠
- p.Arg609Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg667Lys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg674Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg674Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg678Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg678Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg6Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg700Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg708Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg70Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg70Trp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg729Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg751Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg788Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg797His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg7Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg815Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg820Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Arg820His Single submitter Inborn genetic diseases ⚠
- p.Arg9His Single submitter Inborn genetic diseases ⚠
- p.Asn267Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asn511Lys Single submitter Inborn genetic diseases ⚠
- p.Asn742His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asn757Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asn790Lys Single submitter Inborn genetic diseases
- p.Asn790Ser Single submitter Inborn genetic diseases ⚠
- p.Asp152Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asp152His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asp252Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asp414Asn Single submitter Inborn genetic diseases ⚠
- p.Asp599His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asp654Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asp654Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Asp718Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln139His Single submitter MOGS-congenital disorder of glycosylation
- p.Gln139Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln159Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln226Lys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln316Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln342Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln388Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln388His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln552Arg Single submitter Inborn genetic diseases ⚠
- p.Gln670His Single submitter Inborn genetic diseases ⚠
- p.Gln684Pro Single submitter MOGS-congenital disorder of glycosylation
- p.Gln740Ter Single submitter
- p.Gln777Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gln800Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Gln808Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Glu149Gln Single submitter Inborn genetic diseases ⚠
- p.Glu220Asp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Glu295Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Glu337Lys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Glu370Lys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Glu487Lys Single submitter Inborn genetic diseases ⚠
- p.Glu616Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Glu642Lys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Glu835Asp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly129Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly140Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly144Val Single submitter Inborn genetic diseases ⚠
- p.Gly153Ser Single submitter Inborn genetic diseases ⚠
- p.Gly178Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly196Asp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly238Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly251Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly26Val Single submitter Inborn genetic diseases ⚠
- p.Gly299Val Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly302Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly313Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly315Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly317Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly32Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly397Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly416Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly472Val Single submitter ⚠
- p.Gly482Ala Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly4Ala Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly4Asp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly564Glu Single submitter ⚠
- p.Gly619Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly650Glu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly671Trp Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Gly677Ala Single submitter Inborn genetic diseases ⚠
- p.Gly677Arg Single submitter Inborn genetic diseases ⚠
- p.Gly764Glu Single submitter Inborn genetic diseases ⚠
- p.Gly774Val Single submitter MOGS-congenital disorder of glycosylation
- p.Gly824Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.His160Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.His160Tyr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.His521Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.His542Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.His549Arg Single submitter Inborn genetic diseases ⚠
- p.Ile161Phe Single submitter Inborn genetic diseases
- p.Ile332Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ile332Thr Single submitter Inborn genetic diseases ⚠
- p.Leu115His Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Leu154Val Single submitter Inborn genetic diseases ⚠
- p.Leu300Phe Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Leu399Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Leu600fs Single submitter MOGS-congenital disorder of glycosylation
- p.Leu600Pro Single submitter Inborn genetic diseases ⚠
- p.Leu614Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Leu697Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Leu728Ser Single submitter ⚠
- p.Leu772Met Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Lys224Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Lys256Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Lys381Asn Single submitter Inborn genetic diseases ⚠
- p.Lys576Gln Single submitter MOGS-congenital disorder of glycosylation
- p.Lys660Gln Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Lys782Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Met276Ile Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Met57Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Phe150Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Phe207del Single submitter MOGS-congenital disorder of glycosylation
- p.Phe376Cys Single submitter MOGS-related disorder ⚠
- p.Pro101Leu Single submitter Inborn genetic diseases ⚠
- p.Pro101Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro12Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro201Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro246Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro294Ser Single submitter Inborn genetic diseases ⚠
- p.Pro301Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro311Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro350Leu Single submitter Inborn genetic diseases ⚠
- p.Pro37Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro426Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro431Ser Single submitter Inborn genetic diseases ⚠
- p.Pro433Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro433Ser Single submitter Inborn genetic diseases ⚠
- p.Pro555Gln Single submitter Inborn genetic diseases ⚠
- p.Pro555Ser Single submitter Inborn genetic diseases ⚠
- p.Pro668Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro669Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro679Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Pro747fs Single submitter MOGS-congenital disorder of glycosylation
- p.Pro747Ser Single submitter Inborn genetic diseases ⚠
- p.Pro775Ala Single submitter Inborn genetic diseases ⚠
- p.Pro88Thr Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser235Asn Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser249Cys Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser266Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser283Gly Single submitter ⚠
- p.Ser331Phe Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser340Asn Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser385Pro Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser559Cys Single submitter Inborn genetic diseases ⚠
- p.Ser559Pro Single submitter ⚠
- p.Ser639Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser639Asn Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser693Arg Single submitter Inborn genetic diseases ⚠
- p.Ser719Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser724Asn Single submitter Inborn genetic diseases ⚠
- p.Ser735Ile Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Ser743Leu Single submitter Inborn genetic diseases ⚠
- p.Ter838Leu Single submitter MOGS-congenital disorder of glycosylation
- p.Thr127Ile Single submitter Inborn genetic diseases ⚠
- p.Thr136Met Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Thr136Ser Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Thr170Ser Single submitter Inborn genetic diseases
- p.Thr234Asn Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Thr248Ala Single submitter Inborn genetic diseases ⚠
- p.Thr248Ile Single submitter Inborn genetic diseases ⚠
- p.Thr253Ile Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Thr274Ile Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Thr358Ile Single submitter
- p.Thr375Asn Single submitter Inborn genetic diseases ⚠
- p.Thr40Met Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Thr436Ile Single submitter Inborn genetic diseases ⚠
- p.Thr826Ala Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Trp306Ter Single submitter MOGS-congenital disorder of glycosylation
- p.Trp450Gly Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Trp547Ter Single submitter
- p.Trp562Arg Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Trp603Arg Single submitter Inborn genetic diseases ⚠
- p.Trp755Leu Single submitter MOGS-congenital disorder of glycosylation ⚠
- p.Trp796Arg Single submitter MOGS-congenital disorder of glycosylation ⚠