MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Intellectual Disability (D008607)
Parent Node:
expand
Muscular Dystrophies, Limb-Girdle (D049288)
..Starting node
..expand
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)

       Child Nodes:



 Sister Nodes: 
..expandBeta-sarcoglycanopathy (C535435)
..expandCARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE (OMIM:616812)
..expandDysferlinopathy (C537995)
..expandEpidermolysa bullosa simplex and limb girdle muscular dystrophy (C535955)
..expandInclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..expandLimb-girdle muscular dystrophy autosomal recessive (C538640)
..expandLimb-girdle muscular dystrophy type 2A (C535895)
..expandLimb-girdle muscular dystrophy type 2H (C535897)
..expandLimb-girdle muscular dystrophy, type 1B (C535898)
..expandLimb-Girdle Muscular Dystrophy, Type 1G (C563794)
..expandLimb-girdle muscular dystrophy, type 2B (C535899)
..expandMUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE (OMIM:616827)
..expandMUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
..expandMUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..expandMuscular Dystrophy, Hemizygous Lethal Type (C564097)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
..expandMuscular dystrophy, limb-girdle, type 1A (C535906)
..expandMuscular Dystrophy, Limb-Girdle, Type 1C (C563362)
..expandMuscular Dystrophy, Limb-Girdle, Type 1D (C566370)
..expandMuscular Dystrophy, Limb-Girdle, Type 1E (C566589)
..expandMuscular Dystrophy, Limb-Girdle, Type 1F (C564242)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H (OMIM:613530)
..expandMuscular Dystrophy, Limb-Girdle, Type 2G (C566599)
..expandMuscular Dystrophy, Limb-Girdle, Type 2I (C564612)
..expandMuscular Dystrophy, Limb-Girdle, Type 2J (C563854)
..expandMuscular Dystrophy, Limb-Girdle, Type 2L (C566968)
..expandMuscular Dystrophy, Limb-Girdle, Type 2M (C566912)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
..expandMYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
..expandMyopathy, limb-girdle, with bone fragility (C536104)
..expandSarcoglycanopathies (D058088) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8329
Name:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
Definition:
Alternative IDs:DO:DOID:0050588
ParentIDs:MESH:D008607|MESH:D049288
TreeNumbers:C05.651.534.500.280/615351 |C10.597.606.360/615351 |C10.668.491.175.500.149/615351 |C16.320.577.280/615351 |C23.888.592.604.646/615351 |F03.625.539/615351
Synonyms:MDDGB14 |MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
Slim Mappings:Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 615351
MeSH: 615351
OMIM: 615351;
MSeqDR LSDB:  
Genes: GMPPB;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001344Absent speech
3 HP:0000518Cataract
NAMDC:  Cataracts
HP:0040283
4 HP:0001321Cerebellar hypoplasiaHP:0040283
5 HP:0003741Congenital muscular dystrophy
6 HP:0001558Decreased fetal movement
7 HP:0003236Elevated serum creatine phosphokinase
8 HP:0011968Feeding difficulties
9 HP:0001371Flexion contractureHP:0040283
10 HP:0001290Generalized hypotonia
11 HP:0009055Generalized limb muscle atrophy
12 HP:0001263Global developmental delay
NAMDC:  Mental retardation
13 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
14 HP:0001276Hypertonia
15 HP:0001249Intellectual disability
16 HP:0000252Microcephaly
17 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
18 HP:0002058Myopathic facies
19 HP:0000639NystagmusHP:0040283
20 HP:0002421Poor head control
21 HP:0001657Prolonged QT intervalHP:0040283
22 HP:0000508Ptosis
NAMDC:  Ptosis
HP:0040283
23 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
24 HP:0000486StrabismusHP:0040283
25 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met)29925GMPPBUncertain significancers1553691662RCV000537490; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975919149759191GC3:g.49759191G>CClinGen:CA352825821
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)29925GMPPBLikely pathogenicrs771861177RCV000705475; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975919849759198CT3:g.49759198C>T-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)29925GMPPBConflicting interpretations of pathogenicityrs184127567RCV000391570|RCV000726214|RCV001081525; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:58834975922049759220CT3:g.49759220C>TClinGen:CA2405359C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg)29925GMPPBUncertain significance-1RCV001051321; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975922849759228TC3:g.49759228T>C-
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)29925GMPPBLikely benignrs147074020RCV000436069|RCV000651281; NMedGen:CN169374|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975925149759251GA3:g.49759251G>AClinGen:CA2405365C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser)29925GMPPBUncertain significance-1RCV001036803; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975925249759252TC3:g.49759252T>C-
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His)29925GMPPBUncertain significancers1553691683RCV000651271; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975925949759259AG3:g.49759259A>GClinGen:CA352826125C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)29925GMPPBPathogenic/Likely pathogenicrs397509422RCV000054432|RCV000054433|RCV000651273|RCV000788090; NMONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:001434975926849759268CT3:g.49759268C>TClinGen:CA144551,ClinVar:424823,UniProtKB:Q9Y5P6#VAR_070148,OMIM:615320.0001C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr)29925GMPPBUncertain significance-1RCV001203688; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975927149759271TA3:g.49759271T>A-
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)29925GMPPBLikely pathogenicrs199922550RCV000054441|RCV000440664|RCV000501778|RCV000623470|RCV000651278; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MedGen:CN517202|MONDO:MONDO:0018276,MedGen:CN229783, Orphanet:370953|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:61534975928049759280CT3:g.49759280C>TClinGen:CA144570,OMIM:615320.0008C0950123 Inborn genetic diseases;
NM_021971.4(GMPPB):c.956G>A (p.Arg319His)29925GMPPBUncertain significancers768327938RCV000651277; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975931249759312CT3:g.49759312C>TClinGen:CA2405376C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)29925GMPPBUncertain significancers780867515RCV000690678; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975931349759313GA3:g.49759313G>A-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)29925GMPPBUncertain significancers559784211RCV000691392; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975931549759315AG3:g.49759315A>G-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.951+9G>A29925GMPPBLikely benignrs55816606RCV000427085|RCV000546590|RCV001200164; NMedGen:CN169374|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MedGen:CN51720234975938949759389CT3:g.49759389C>TClinGen:CA2405399C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.951+9G>T29925GMPPBLikely benignrs55816606RCV000937474; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975938949759389CA3:g.49759389C>A-
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu)29925GMPPBUncertain significance-1RCV001071870; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975940949759409CA3:g.49759409C>A-
NM_021971.4(GMPPB):c.939C>T (p.Arg313=)29925GMPPBLikely benignrs147714661RCV000887747; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975941049759410GA3:g.49759410G>A-
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys)29925GMPPBUncertain significancers144421130RCV000796984; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975941249759412GA3:g.49759412G>A-
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)29925GMPPBUncertain significancers371188899RCV000522572|RCV000529420|RCV000624021; NMedGen:CN517202|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MeSH:D030342,MedGen:C095012334975941849759418GA3:g.49759418G>AClinGen:CA2405407C0950123 Inborn genetic diseases;
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln)29925GMPPBUncertain significance-1RCV001056881; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975946249759462CT3:g.49759462C>T-
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln)29925GMPPBUncertain significancers748809549RCV000651275; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975947149759471CT3:g.49759471C>TClinGen:CA74541431
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp)29925GMPPBUncertain significancers756682220RCV000651272; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975947249759472GA3:g.49759472G>AClinGen:CA2405419
NM_021971.4(GMPPB):c.870G>A (p.Thr290=)29925GMPPBUncertain significance-1RCV001245121; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975947949759479CT3:g.49759479C>T-
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro)29925GMPPBUncertain significancers769346834RCV000817393; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975948649759486CG3:g.49759486C>G-
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)29925GMPPBConflicting interpretations of pathogenicityrs202160208RCV000054439|RCV000209893|RCV000520160|RCV000553832|RCV001266808; NMONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MedGen:CN517202|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:034975948949759489CT3:g.49759489C>TUniProtKB:Q9Y5P6#VAR_070146,OMIM:615320.0006,ClinGen:CA090892C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.831C>T (p.Gly277=)29925GMPPBUncertain significancers763262592RCV000541214; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975951849759518GA3:g.49759518G>AClinGen:CA2405426
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser)29925GMPPBUncertain significancers370840899RCV000799524; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975953749759537TC3:g.49759537T>C-
NM_021971.4(GMPPB):c.792G>C (p.Gln264His)29925GMPPBUncertain significancers1559696652RCV000695460; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975955749759557CG3:g.49759557C>G-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)29925GMPPBPathogenicrs763971677RCV000692931; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975955949759559GA3:g.49759559G>A-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)29925GMPPBUncertain significance-1RCV001054940; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975956849759568GA3:g.49759568G>A-
NM_021971.4(GMPPB):c.769-9C>T29925GMPPBLikely benignrs781777729RCV000899405; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975958949759589GA3:g.49759589G>A-
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser)29925GMPPBUncertain significancers1559696765RCV000705546; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975967449759674TC3:g.49759674T>C-
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp)29925GMPPBUncertain significancers1015055492RCV000801719; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975967549759675TC3:g.49759675T>C-
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs)29925GMPPBPathogenic-1RCV001241608; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975968649759704CCAGGGCCTGAGCACAGCCTCTGT3:g.49759687_49759704del-
NM_021971.4(GMPPB):c.729G>A (p.Arg243=)29925GMPPBLikely benignrs370448223RCV000875489; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975970349759703CT3:g.49759703C>T-
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)29925GMPPBConflicting interpretations of pathogenicityrs749730219RCV000251834|RCV001226319; NMedGen:CN169374|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:36362334975970449759704CT3:g.49759704C>TClinGen:CA2405464
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)29925GMPPBUncertain significance-1RCV001036720; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975970549759705GA3:g.49759705G>A-
NM_021971.4(GMPPB):c.702G>A (p.Gln234=)29925GMPPBLikely benignrs368795315RCV000433903|RCV000875949; NMedGen:CN169374|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975973049759730CT3:g.49759730C>TClinGen:CA2405468CN169374 not specified;
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)29925GMPPBPathogenicrs761714818RCV000698360; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975977649759776AG3:g.49759776A>G-
NM_021971.4(GMPPB):c.641-19_641-9del29925GMPPBUncertain significance-1RCV001061705; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975980049759810GAGGGATGCATCG3:g.49759800_49759810del-
NM_021971.4(GMPPB):c.640+1G>A29925GMPPBLikely pathogenicrs141588721RCV000794094; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975986449759864CT3:g.49759864C>T-
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr)29925GMPPBUncertain significancers759137392RCV000687589; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975987649759876AG3:g.49759876A>G-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.607_609del (p.Lys203del)29925GMPPBUncertain significancers1553691853RCV000552493; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975989649759898CCTTC3:g.49759896_49759898delClinGen:CA658657300
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe)29925GMPPBUncertain significance-1RCV001046286; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975991649759916CA3:g.49759916C>A-
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg)29925GMPPBUncertain significancers1559697016RCV000686689; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134975993649759936GC3:g.49759936G>C-
NM_021971.4(GMPPB):c.562-9C>A29925GMPPBLikely benignrs183240200RCV000540404|RCV000610990; NMONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MedGen:CN16937434975995249759952GT3:g.49759952G>TClinGen:CA2405508
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)29925GMPPBPathogenic/Likely pathogenicrs397509425RCV000054436|RCV000054437|RCV000200261|RCV000503216|RCV000623944; NMONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C334976003749760037GA3:g.49760037G>AClinGen:CA144560,UniProtKB:Q9Y5P6#VAR_070145,OMIM:615320.0004C0950123 Inborn genetic diseases;
NM_021971.4(GMPPB):c.551= (p.Gln184=)29925GMPPBBenignrs1466685RCV000527815; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976003949760039TT3:g.49760039T>.ClinGen:CA658657301
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly)29925GMPPBUncertain significance-1RCV001065000; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976005549760055TC3:g.49760055T>C-
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)29925GMPPBUncertain significancers147966522RCV000693068|RCV000729679; NMONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MedGen:CN51720234976006549760065CA3:g.49760065C>A-
NM_021971.4(GMPPB):c.516C>T (p.Asn172=)29925GMPPBBenign/Likely benignrs147672249RCV000839682|RCV001079770; NMedGen:CN517202|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:58834976007449760074GA3:g.49760074G>A-
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn)29925GMPPBUncertain significance-1RCV001208227; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976008049760080CG3:g.49760080C>G-
NM_021971.4(GMPPB):c.486G>A (p.Lys162=)29925GMPPBLikely benignrs144305518RCV000981339; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976010449760104CT3:g.49760104C>T-
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu)29925GMPPBUncertain significance-1RCV001070364; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976011249760112CG3:g.49760112C>G-
NM_021971.4(GMPPB):c.478G>A (p.Val160Met)29925GMPPBUncertain significance-1RCV001226181; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976011249760112CT3:g.49760112C>T-
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro)29925GMPPBUncertain significancers374497499RCV000814700; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976011749760117CG3:g.49760117C>G-
NM_021971.4(GMPPB):c.456_457CA[1] (p.Thr153fs)29925GMPPBPathogenicrs1553691918RCV000551670; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976013149760132CTGC3:g.49760131_49760132delClinGen:CA658657302
NM_021971.4(GMPPB):c.459A>G (p.Thr153=)29925GMPPBLikely benignrs140968388RCV000651279; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976013149760131TC3:g.49760131T>CClinGen:CA2405547C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)29925GMPPBPathogenic/Likely pathogenicrs202013297RCV000815814|RCV000993849; NMONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:36362334976013249760132GA3:g.49760132G>A-
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala)29925GMPPBUncertain significance-1RCV001216870; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976015649760156CG3:g.49760156C>G-
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser)29925GMPPBUncertain significance-1RCV001060368; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976015749760157CT3:g.49760157C>T-
NM_021971.4(GMPPB):c.402+1G>A29925GMPPBLikely pathogenicrs145564018RCV000690893; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976040449760404CT3:g.49760404C>T-
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)29925GMPPBUncertain significancers145535498RCV000793053; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976041249760412GC3:g.49760412G>C-
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg)29925GMPPBUncertain significance-1RCV001216408; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976041849760419TCCTNC_000003.11:g.49760418_49760419delinsCT-
NM_021971.4(GMPPB):c.376C>G (p.His126Asp)29925GMPPBBenignrs34345884RCV000242290|RCV000539042; NMedGen:CN169374|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:36362334976043149760431GC3:g.49760431G>CClinGen:CA2405592,UniProtKB:Q9Y5P6#VAR_035372
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln)29925GMPPBUncertain significancers758366693RCV000651276; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976043349760433CT3:g.49760433C>TClinGen:CA2405593C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs)29925GMPPBPathogenicrs1553691975RCV000527021; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976044049760441AACT3:g.49760440_49760441insCTClinGen:CA658657303
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp)29925GMPPBUncertain significance-1RCV001213231; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976045149760451GT3:g.49760451G>T-
NM_021971.4(GMPPB):c.331G>A (p.Val111Met)29925GMPPBUncertain significancers141201072RCV000550887; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976047649760476CT3:g.49760476C>TClinGen:CA2405599
NM_021971.4(GMPPB):c.330C>T (p.Asp110=)29925GMPPBBenignrs11547261RCV000252042|RCV000533737; NMedGen:CN169374|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:36362334976047749760477GA3:g.49760477G>AClinGen:CA2405600
NM_021971.4(GMPPB):c.309T>C (p.Pro103=)29925GMPPBLikely benignrs147516683RCV000438003|RCV000557516; NMedGen:CN169374|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:58834976049849760498AG3:g.49760498A>GClinGen:CA2405601C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del)29925GMPPBUncertain significancers1559697587RCV000686546; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976050049760520GGGTCTGCAGTCTCAGAGAGTAG3:g.49760500_49760520del-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.304G>C (p.Asp102His)29925GMPPBUncertain significancers368542417RCV000797803; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976050349760503CG3:g.49760503C>G-
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile)29925GMPPBUncertain significance-1RCV001224623; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976050849760508GA3:g.49760508G>A-
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup)29925GMPPBUncertain significance-1RCV001208354; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976051649760517GGAGT3:g.49760516_49760517insAGT-
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs)29925GMPPBPathogenicrs1191822017RCV000821842; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976052449760536TCACGGGCCAGCGCT3:g.49760524_49760536del-
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr)29925GMPPBUncertain significancers1553692045RCV000651274; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976072849760728AG3:g.49760728A>GClinGen:CA352830297
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu)29925GMPPBUncertain significancers1245162935RCV000685850; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976073149760731CT3:g.49760731C>T-
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala)29925GMPPBUncertain significance-1RCV001232036; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976073149760731CG3:g.49760731C>G-
NM_021971.4(GMPPB):c.211-7C>T29925GMPPBLikely benignrs201109088RCV000953822; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976074249760742GA3:g.49760742G>A-
NM_021971.4(GMPPB):c.210+9_210+10del29925GMPPBLikely benignrs776779111RCV000651280; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976081549760816CTGC3:g.49760815_49760816delClinGen:CA2405655
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg)29925GMPPBUncertain significancers145671483RCV000823166; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976087549760875TG3:g.49760875T>G-
NM_021971.4(GMPPB):c.135C>T (p.Gly45=)29925GMPPBUncertain significance-1RCV001224538; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976090049760900GA3:g.49760900G>A-
NM_021971.4(GMPPB):c.129+7C>A29925GMPPBLikely benignrs748350135RCV000893922; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976102449761024GT3:g.49761024G>T-
NM_021971.4(GMPPB):c.129+5G>A29925GMPPBUncertain significance-1RCV001246944; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976102649761026CT3:g.49761026C>T-
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val)29925GMPPBUncertain significance-1RCV001055548; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976103249761032GA3:g.49761032G>A-
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly)29925GMPPBUncertain significancers1575297274RCV000800593; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976104449761044TC3:g.49761044T>C-
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)29925GMPPBPathogenicrs1348189028RCV000801856; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976105149761051GA3:g.49761051G>A-
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)29925GMPPBConflicting interpretations of pathogenicityrs397509426RCV000054438|RCV000209926|RCV000493576|RCV000684892; NMONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MedGen:CN517202|MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351; MONDO:MONDO:034976106549761065GA3:g.49761065G>AClinGen:CA090934,UniProtKB:Q9Y5P6#VAR_070144,OMIM:615320.0005C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser)29925GMPPBUncertain significancers1575297292RCV000810959; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976106649761066GA3:g.49761066G>A-
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)29925GMPPBPathogenic/Likely pathogenicrs142336618RCV000054440|RCV000444697|RCV000533184|RCV000610921; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623|MedGen:CN517202|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|34976108149761081CG3:g.49761081C>GClinGen:CA144567,UniProtKB:Q9Y5P6#VAR_070143,OMIM:615320.0007C0026850 Muscular dystrophy;
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn)29925GMPPBUncertain significancers1438380704RCV000697038; NMONDO:MONDO:0014142,MedGen:C3714932,OMIM:615352, Orphanet:363623; MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350, Orphanet:588; MONDO:MONDO:0014141,MedGen:C3809221,OMIM:61535134976109849761098GT3:g.49761098G>T-C3809216 615350 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;
MSeqDR Portal