MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Muscular Dystrophies, Limb-Girdle (D049288)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)

       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:8343
Name:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
Definition:
Alternative IDs:DO:DOID:0110293
ParentIDs:MESH:D049288
TreeNumbers:C05.651.534.500.280/613818 |C10.668.491.175.500.149/613818 |C16.320.577.280/613818
Synonyms:LGMD2P |LGMDR16 |MDDGC9 |MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED |MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 16 |MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 613818
MeSH: 613818
OMIM: 613818;
MSeqDR LSDB:  
Genes: DAG1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0006466Ankle contracture
3 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
4 HP:0003236Elevated serum creatine phosphokinase
5 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
6 HP:0001263Global developmental delay
NAMDC:  Mental retardation
7 HP:0003391Gowers sign
8 HP:0001249Intellectual disability
9 HP:0003325Limb-girdle muscle weakness
10 HP:0002938Lumbar hyperlordosis
11 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000003.12:g.(?_49121216)_(49533209_?)del-1covers 13 genes, none of whichPathogenic-1RCV001033498|RCV001384888; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049, Orphanet:2670; MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Or34915864949570642nana-1-
NC_000003.11:g.(?_49547968)_(49548272_?)dup1605DAG1Uncertain significance-1RCV001918764; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954796849548272nana-1-
NC_000003.11:g.(?_49547968)_(49548272_?)del1605DAG1Uncertain significance-1RCV001978809; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954796849548272nana-1-
NM_004393.6(DAG1):c.15G>A (p.Val5=)1605DAG1Conflicting interpretations of pathogenicity-1RCV001531396|RCV002071899; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954798249547982GA49547982-
NM_004393.6(DAG1):c.21C>G (p.Leu7=)1605DAG1Likely benign-1RCV001489142; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954798849547988CG49547988-
NM_004393.6(DAG1):c.23C>T (p.Ser8Leu)1605DAG1Uncertain significancers199501149RCV000706924; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954799049547990CT3:g.49547990C>T-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.24G>A (p.Ser8=)1605DAG1Likely benignrs1229832209RCV000648807; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954799149547991GA3:g.49547991G>AClinGen:CA433838430C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.39C>T (p.Leu13=)1605DAG1Likely benign-1RCV002085613; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954800649548006CT49548006-
NM_004393.6(DAG1):c.41= (p.Ser14=)1605DAG1Benignrs2131107RCV000024443|RCV001083715|RCV001288142; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN16937434954800849548008CC3:g.49548008C>.ClinGen:CA215247,Leiden Muscular Dystrophy (DAG1):DAG1_00001C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp)1605DAG1Benignrs2131107RCV000214409|RCV000987273|RCV001520458|RCV001658008; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0014683,MedGen:C422534954800849548008CG3:g.49548008C>GClinGen:CA2398806CN169374 not specified;
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)1605DAG1Pathogenic-1RCV001386974; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954800849548008CA49548008-
NM_004393.6(DAG1):c.42G>C (p.Ser14=)1605DAG1Uncertain significancers770996993RCV001246461; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954800949548009GC3:g.49548009G>C-
NM_004393.6(DAG1):c.43G>T (p.Gly15Trp)1605DAG1Uncertain significance-1RCV002013374; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954801049548010GT49548010-
NM_004393.6(DAG1):c.45G>A (p.Gly15=)1605DAG1Likely benign-1RCV001443961; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954801249548012GA49548012-
NM_004393.6(DAG1):c.49A>G (p.Thr17Ala)1605DAG1Uncertain significance-1RCV001950332; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954801649548016AG49548016-
NM_004393.6(DAG1):c.55C>T (p.Leu19Phe)1605DAG1Uncertain significance-1RCV001951903; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954802249548022CT49548022-
NM_004393.6(DAG1):c.57C>T (p.Leu19=)1605DAG1Likely benignrs768105958RCV000648810; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954802449548024CT3:g.49548024C>TClinGen:CA2398813C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.63G>T (p.Leu21=)1605DAG1Likely benign-1RCV002090904; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954803049548030GT49548030-
NM_004393.6(DAG1):c.80C>G (p.Ala27Gly)1605DAG1Uncertain significance-1RCV001976102; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954804749548047CG49548047-
NM_004393.6(DAG1):c.93G>T (p.Trp31Cys)1605DAG1Uncertain significancers146339759RCV000282837|RCV001859726; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954806049548060GT3:g.49548060G>TClinGen:CA2398820CN169374 not specified;
NM_004393.6(DAG1):c.108A>C (p.Ser36=)1605DAG1Likely benign-1RCV001410898; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954807549548075AC49548075-
NM_004393.6(DAG1):c.123C>G (p.Asp41Glu)1605DAG1Uncertain significancers2050738548RCV001347276; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954809049548090CG49548090-
NM_004393.6(DAG1):c.126G>C (p.Trp42Cys)1605DAG1Uncertain significancers2050738653RCV001216602; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954809349548093GC3:g.49548093G>C-
NM_004393.6(DAG1):c.148A>G (p.Met50Val)1605DAG1Uncertain significancers758104540RCV000372770|RCV000811530; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954811549548115AG3:g.49548115A>GClinGen:CA2398827CN169374 not specified;
NM_004393.6(DAG1):c.153C>G (p.His51Gln)1605DAG1Uncertain significance-1RCV001992338; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954812049548120CG49548120-
NM_004393.6(DAG1):c.173A>T (p.His58Leu)1605DAG1Uncertain significance-1RCV001888702; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954814049548140AT49548140-
NM_004393.6(DAG1):c.174C>T (p.His58=)1605DAG1Likely benign-1RCV002166231; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954814149548141CT49548141-
NM_004393.6(DAG1):c.175G>T (p.Glu59Ter)1605DAG1Conflicting interpretations of pathogenicityrs767737417RCV000760900|RCV001855933; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954814249548142GTNC_000003.11:g.49548142G>T-
NM_004393.6(DAG1):c.175G>A (p.Glu59Lys)1605DAG1Uncertain significance-1RCV001952644; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954814249548142GA49548142-
NM_004393.6(DAG1):c.181G>A (p.Val61Ile)1605DAG1Uncertain significance-1RCV001892989; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954814849548148GA49548148-
NM_004393.6(DAG1):c.183T>C (p.Val61=)1605DAG1Conflicting interpretations of pathogenicityrs775928044RCV000175780|RCV001081487; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954815049548150TC3:g.49548150T>CClinGen:CA241546CN169374 not specified;
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)1605DAG1Uncertain significancers375938350RCV000331631|RCV000648799; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954815249548152CT3:g.49548152C>TClinGen:CA2398837C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.193G>A (p.Val65Ile)1605DAG1Uncertain significancers757379579RCV000528440; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954816049548160GANC_000003.11:g.49548160G>AClinGen:CA2398840C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.210C>T (p.Gly70=)1605DAG1Uncertain significance-1RCV001369424; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954817749548177CT49548177-
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys)1605DAG1Uncertain significancers142572135RCV000698659|RCV000730056; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN51720234954817949548179CA3:g.49548179C>A-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.213G>A (p.Thr71=)1605DAG1Conflicting interpretations of pathogenicityrs148703095RCV000602047|RCV001229105; NMedGen:CN169374|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954818049548180GA3:g.49548180G>AClinGen:CA2398845CN169374 not specified;
NM_004393.6(DAG1):c.219C>T (p.Val73=)1605DAG1Conflicting interpretations of pathogenicityrs145165301RCV000597188|RCV001662643|RCV001500510; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954818649548186CT3:g.49548186C>TClinGen:CA2398846CN169374 not specified;
NM_004393.6(DAG1):c.220G>A (p.Val74Ile)1605DAG1Uncertain significancers189360006RCV000190545|RCV001857671; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954818749548187GANC_000003.11:g.49548187G>AClinGen:CA204525,UniProtKB:Q14118#VAR_075809,OMIM:128239.0002C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.222C>T (p.Val74=)1605DAG1Conflicting interpretations of pathogenicityrs150727558RCV000730457|RCV002060994; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954818949548189CTNC_000003.11:g.49548189C>T-
NM_004393.6(DAG1):c.227G>A (p.Arg76His)1605DAG1Uncertain significancers950805280RCV001055613; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954819449548194GA3:g.49548194G>A-
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro)1605DAG1Uncertain significancers2050743041RCV001035173; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954819649548196TC3:g.49548196T>C-
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)1605DAG1Pathogenicrs1334656238RCV000810927; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954820249548202CT3:g.49548202C>T-
NM_004393.6(DAG1):c.243C>G (p.Thr81=)1605DAG1Likely benignrs202047972RCV000877912|RCV001567236; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234954821049548210CG3:g.49548210C>G-
NM_004393.6(DAG1):c.244A>G (p.Ile82Val)1605DAG1Uncertain significancers141706514RCV000289440|RCV000824308; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954821149548211AG3:g.49548211A>GClinGen:CA2398852CN169374 not specified;
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)1605DAG1Conflicting interpretations of pathogenicityrs145403829RCV000175779|RCV000543538|RCV001080136|RCV001262919; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954822549548225GC3:g.49548225G>CClinGen:CA201626C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.259A>G (p.Ile87Val)1605DAG1Benign/Likely benignrs116717961RCV000116864|RCV000514706|RCV001081724; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954822649548226AG3:g.49548226A>GClinGen:CA152548C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.264C>T (p.Ala88=)1605DAG1Likely benign-1RCV002196014; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954823149548231CT49548231-
NM_004393.6(DAG1):c.268A>G (p.Ser90Gly)1605DAG1Uncertain significancers140454570RCV000648797; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954823549548235AG3:g.49548235A>GClinGen:CA2398857C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.271G>A (p.Gly91Arg)1605DAG1Uncertain significance-1RCV001939231; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954823849548238GA49548238-
NM_004393.6(DAG1):c.272G>A (p.Gly91Glu)1605DAG1Uncertain significancers766324183RCV001332441|RCV001865754; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954823949548239GA49548239-
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)1605DAG1Conflicting interpretations of pathogenicityrs149218670RCV000724971|RCV001085470; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954824549548245TC3:g.49548245T>CClinGen:CA2398859C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.285+1G>A1605DAG1Pathogenicrs2050744878RCV001045353; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934954825349548253GA3:g.49548253G>A-
NM_004393.6(DAG1):c.285+42T>C1605DAG1Benignrs2329024RCV000024444|RCV000243676|RCV001659728; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334954829449548294TC3:g.49548294T>CClinGen:CA215250,Leiden Muscular Dystrophy (DAG1):DAG1_00002CN517202 not provided;
NM_004393.6(DAG1):c.286-17G>T1605DAG1Likely benign-1RCV002095314; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956821349568213GT49568213-
NM_004393.6(DAG1):c.286-10del1605DAG1Benign/Likely benignrs747305463RCV000322820|RCV000544627; NMedGen:CN169374|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956822049568220GTG3:g.49568220_49568220delClinGen:CA2398878C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NC_000003.12:g.(?_49530787)_(49533209_?)del1605DAG1Pathogenic-1RCV001032569; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956822049570642nana-1-
NC_000003.11:g.(?_49568220)_(49570642_?)dup1605DAG1Uncertain significance-1RCV001351674; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956822049570642nana-1-
NM_004393.6(DAG1):c.286-9C>T1605DAG1Likely benign-1RCV002107451; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956822149568221CT49568221-
NM_004393.6(DAG1):c.286-4C>G1605DAG1Uncertain significancers759502746RCV001038985; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956822649568226CG3:g.49568226C>G-
NM_004393.6(DAG1):c.293C>T (p.Ala98Val)1605DAG1Uncertain significance-1RCV001943116; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956823749568237CT49568237-
NM_004393.6(DAG1):c.294G>A (p.Ala98=)1605DAG1Conflicting interpretations of pathogenicityrs752506833RCV000369485|RCV001078727; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956823849568238GA3:g.49568238G>AClinGen:CA2398883CN169374 not specified;
NM_004393.6(DAG1):c.317C>T (p.Ser106Phe)1605DAG1Uncertain significance-1RCV002029798; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956826149568261CT49568261-
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)1605DAG1Pathogenicrs2051320206RCV001232180; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956827449568274GA3:g.49568274G>A-
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)1605DAG1Benignrs117209107RCV000190546|RCV000335532|RCV000556875|RCV001723761; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956827549568275GA3:g.49568275G>AClinGen:CA204527,UniProtKB:Q14118#VAR_075810,OMIM:128239.0003C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.333C>T (p.Asp111=)1605DAG1Likely benign-1RCV001486752; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956827749568277CT49568277-
NM_004393.6(DAG1):c.349C>T (p.Leu117=)1605DAG1Likely benignrs146011758RCV000878535|RCV002064916; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956829349568293CT3:g.49568293C>T-
NM_004393.6(DAG1):c.372T>G (p.Thr124=)1605DAG1Conflicting interpretations of pathogenicityrs555051245RCV000261770|RCV002059190; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956831649568316TG3:g.49568316T>GClinGen:CA2398891CN169374 not specified;
NM_004393.6(DAG1):c.384G>T (p.Val128=)1605DAG1Benign/Likely benignrs143829263RCV000248631|RCV000648806; NMedGen:CN169374|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956832849568328GTNC_000003.11:g.49568328G>TClinGen:CA2398892C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.384G>A (p.Val128=)1605DAG1Conflicting interpretations of pathogenicityrs143829263RCV000729147|RCV001450162; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956832849568328GANC_000003.11:g.49568328G>AClinGen:CA2398893C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.396A>C (p.Ser132=)1605DAG1Likely benignrs1575410151RCV000944802|RCV001398900; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956834049568340AC3:g.49568340A>C-
NM_004393.6(DAG1):c.402C>T (p.Ser134=)1605DAG1Likely benignrs367603470RCV000545372; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956834649568346CTNC_000003.11:g.49568346C>TClinGen:CA2398895C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.403G>T (p.Ala135Ser)1605DAG1Uncertain significancers774419205RCV000365148|RCV001859618; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956834749568347GT3:g.49568347G>TClinGen:CA10605115CN169374 not specified;
NM_004393.6(DAG1):c.403G>A (p.Ala135Thr)1605DAG1Uncertain significance-1RCV001930851; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956834749568347GA49568347-
NM_004393.6(DAG1):c.409C>T (p.Arg137Trp)1605DAG1Uncertain significance-1RCV002017652; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956835349568353CT49568353-
NM_004393.6(DAG1):c.414G>T (p.Leu138=)1605DAG1Likely benign-1RCV002201609; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956835849568358GT49568358-
NM_004393.6(DAG1):c.423C>T (p.Asn141=)1605DAG1Likely benign-1RCV001475123; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956836749568367CT49568367-
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg)1605DAG1Uncertain significancers749962207RCV000648796; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956836849568368GA3:g.49568368G>AClinGen:CA2398905C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.440del (p.Gln147fs)1605DAG1Pathogenicrs1553652503RCV000648792; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956838449568384CAC3:g.49568384_49568384delClinGen:CA658796320C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.442A>T (p.Thr148Ser)1605DAG1Uncertain significancers1297914937RCV001037701; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956838649568386AT3:g.49568386A>T-
NM_004393.6(DAG1):c.454_467del (p.Phe152fs)1605DAG1Likely pathogenicrs1553652513RCV000533805; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956839849568411GTTCTCCATCGAGGTGNC_000003.11:g.49568398_49568411delClinGen:CA658657296C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.459C>T (p.Ser153=)1605DAG1Likely benign-1RCV001419974; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956840349568403CT49568403-
NM_004393.6(DAG1):c.471C>T (p.Tyr157=)1605DAG1Likely benign-1RCV001485228; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956841549568415CT49568415-
NM_004393.6(DAG1):c.473C>T (p.Pro158Leu)1605DAG1Uncertain significancers368359780RCV000593938|RCV001036812; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956841749568417CT3:g.49568417C>TClinGen:CA2398913CN169374 not specified;
NM_004393.6(DAG1):c.473C>G (p.Pro158Arg)1605DAG1Uncertain significancers368359780RCV001296005; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956841749568417CG49568417-
NM_004393.6(DAG1):c.481C>G (p.His161Asp)1605DAG1Uncertain significancers2051326372RCV001351296; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956842549568425CG49568425-
NM_004393.6(DAG1):c.483C>T (p.His161=)1605DAG1Likely benign-1RCV001461731; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956842749568427CT49568427-
NM_004393.6(DAG1):c.496T>G (p.Ser166Ala)1605DAG1Uncertain significancers1421891404RCV000707433; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956844049568440TGNC_000003.11:g.49568440T>G-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.497C>T (p.Ser166Leu)1605DAG1Uncertain significancers556413209RCV001321551; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956844149568441CT49568441-
NM_004393.6(DAG1):c.510C>T (p.Ala170=)1605DAG1Conflicting interpretations of pathogenicityrs147153370RCV000334505|RCV001455960; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956845449568454CT3:g.49568454C>TClinGen:CA2398919CN169374 not specified;
NM_004393.6(DAG1):c.510C>A (p.Ala170=)1605DAG1Likely benignrs147153370RCV000833235|RCV001087172; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956845449568454CA3:g.49568454C>A-
NM_004393.6(DAG1):c.524G>A (p.Gly175Asp)1605DAG1Uncertain significance-1RCV001948876; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956846849568468GA49568468-
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr)1605DAG1Uncertain significancers201869343RCV000991873|RCV001302557; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956847949568479TA3:g.49568479T>A-
NM_004393.6(DAG1):c.539C>T (p.Ser180Phe)1605DAG1Uncertain significancers756584618RCV000594790|RCV001867924; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956848349568483CT3:g.49568483C>TClinGen:CA2398926CN169374 not specified;
NM_004393.6(DAG1):c.551C>T (p.Ala184Val)1605DAG1Uncertain significancers1431924829RCV001204024; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956849549568495CT3:g.49568495C>T-
NM_004393.6(DAG1):c.552G>C (p.Ala184=)1605DAG1Conflicting interpretations of pathogenicityrs749602970RCV000727945|RCV001502161; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956849649568496GCNC_000003.11:g.49568496G>C-
NM_004393.6(DAG1):c.552G>A (p.Ala184=)1605DAG1Uncertain significancers749602970RCV001053237; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956849649568496GA3:g.49568496G>A-
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)1605DAG1Uncertain significancers193922955RCV000022532|RCV000024453|RCV001044548; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956851949568519CT3:g.49568519C>TClinGen:CA128556,Leiden Muscular Dystrophy (DAG1):DAG1_00011,UniProtKB:Q14118#VAR_065266,OMIM:128239.0001C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.576G>A (p.Thr192=)1605DAG1Uncertain significancers746894568RCV000800878; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956852049568520GA3:g.49568520G>A-
NM_004393.6(DAG1):c.587A>T (p.Asp196Val)1605DAG1Uncertain significance-1RCV001975306; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956853149568531AT49568531-
NM_004393.6(DAG1):c.591C>T (p.Ala197=)1605DAG1Likely benignrs768487898RCV000648809; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956853549568535CT3:g.49568535C>TClinGen:CA2398935C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)1605DAG1Benign/Likely benignrs41290704RCV000245202|RCV000550978|RCV001704844; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956854349568543CG3:g.49568543C>GClinGen:CA243321C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser)1605DAG1Benign-1RCV002186574; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956855149568551AT49568551-
NM_004393.6(DAG1):c.608C>T (p.Thr203Ile)1605DAG1Uncertain significance-1RCV002008968; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956855249568552CT49568552-
NM_004393.6(DAG1):c.613A>G (p.Lys205Glu)1605DAG1Uncertain significancers145871499RCV000648785; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956855749568557AG3:g.49568557A>GClinGen:CA2398937C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.623T>C (p.Ile208Thr)1605DAG1Uncertain significancers772976299RCV000592096|RCV000691718; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956856749568567TC3:g.49568567T>CClinGen:CA2398938C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.624T>C (p.Ile208=)1605DAG1Likely benign-1RCV002154596; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956856849568568TC49568568-
NM_004393.6(DAG1):c.634C>A (p.His212Asn)1605DAG1Uncertain significancers146574353RCV000403851|RCV000817809; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956857849568578CA3:g.49568578C>AClinGen:CA2398939CN169374 not specified;
NM_004393.6(DAG1):c.636C>T (p.His212=)1605DAG1Likely benignrs765923041RCV000983404; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956858049568580CT3:g.49568580C>T-
NM_004393.6(DAG1):c.643C>T (p.Arg215Trp)1605DAG1Uncertain significancers562046526RCV001042731; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956858749568587CT3:g.49568587C>T-
NM_004393.6(DAG1):c.644G>A (p.Arg215Gln)1605DAG1Uncertain significancers144753260RCV001308960; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956858849568588GA49568588-
NM_004393.6(DAG1):c.645G>A (p.Arg215=)1605DAG1Likely benign-1RCV002169982; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956858949568589GA49568589-
NM_004393.6(DAG1):c.658G>C (p.Val220Leu)1605DAG1Uncertain significance-1RCV001971169; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956860249568602GC49568602-
NM_004393.6(DAG1):c.659T>C (p.Val220Ala)1605DAG1Uncertain significance-1RCV001362345; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956860349568603TC49568603-
NM_004393.6(DAG1):c.687G>A (p.Pro229=)1605DAG1Likely benign-1RCV001469377; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956863149568631GA49568631-
NM_004393.6(DAG1):c.691G>T (p.Val231Leu)1605DAG1Uncertain significancers2051333513RCV001239796; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956863549568635GT3:g.49568635G>T-
NM_004393.6(DAG1):c.695A>G (p.Asn232Ser)1605DAG1Uncertain significancers779274447RCV000270406|RCV001855142; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956863949568639AG3:g.49568639A>GClinGen:CA2398946CN169374 not specified;
NM_004393.6(DAG1):c.712A>G (p.Met238Val)1605DAG1Uncertain significancers148238809RCV000688576; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956865649568656AGNC_000003.11:g.49568656A>G-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.717G>A (p.Ser239=)1605DAG1Conflicting interpretations of pathogenicityrs780120566RCV000288424|RCV001439897; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956866149568661GA3:g.49568661G>AClinGen:CA2398949CN169374 not specified;
NM_004393.6(DAG1):c.727G>A (p.Ala243Thr)1605DAG1Uncertain significance-1RCV001950151; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956867149568671GA49568671-
NM_004393.6(DAG1):c.734C>T (p.Pro245Leu)1605DAG1Uncertain significance-1RCV001982789; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956867849568678CT49568678-
NM_004393.6(DAG1):c.735G>A (p.Pro245=)1605DAG1Uncertain significancers748164001RCV000177203|RCV000558693|RCV001818427; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN16937434956867949568679GA3:g.49568679G>AClinGen:CA243318C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.740A>G (p.Asn247Ser)1605DAG1Uncertain significance-1RCV002043503; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956868449568684AG49568684-
NM_004393.6(DAG1):c.751dup (p.Val251fs)1605DAG1Uncertain significancers1575410881RCV001296160; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956869349568694AAG49568693-
NM_004393.6(DAG1):c.751del (p.Val251fs)1605DAG1Uncertain significancers1575410881RCV000824026; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956869449568694AGA3:g.49568694_49568694del-
NM_004393.6(DAG1):c.781A>G (p.Lys261Glu)1605DAG1Uncertain significance-1RCV001358916; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956872549568725AG49568725-
NM_004393.6(DAG1):c.786G>A (p.Leu262=)1605DAG1Uncertain significance-1RCV001989173; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956873049568730GA49568730-
NM_004393.6(DAG1):c.804G>A (p.Gln268=)1605DAG1Conflicting interpretations of pathogenicityrs201713621RCV000336322|RCV001496228; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956874849568748GA3:g.49568748G>AClinGen:CA2398963CN169374 not specified;
NM_004393.6(DAG1):c.815C>T (p.Pro272Leu)1605DAG1Uncertain significancers371509534RCV001202909; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956875949568759CT3:g.49568759C>T-
NM_004393.6(DAG1):c.815C>G (p.Pro272Arg)1605DAG1Uncertain significancers371509534RCV001306649; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956875949568759CG49568759-
NM_004393.6(DAG1):c.820A>G (p.Ile274Val)1605DAG1Uncertain significance-1RCV001950687; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956876449568764AG49568764-
NM_004393.6(DAG1):c.829G>A (p.Val277Ile)1605DAG1Uncertain significancers375892170RCV000534893|RCV000734229; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956877349568773GANC_000003.11:g.49568773G>AClinGen:CA2398966C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.835G>T (p.Ala279Ser)1605DAG1Uncertain significancers202239406RCV001213260; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956877949568779GT3:g.49568779G>T-
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser)1605DAG1Uncertain significance-1RCV001902423; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956878249568782CT49568782-
NM_004393.6(DAG1):c.838C>A (p.Pro280Thr)1605DAG1Uncertain significance-1RCV001884533; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956878249568782CA49568782-
NM_004393.6(DAG1):c.852C>T (p.Gly284=)1605DAG1Likely benign-1RCV001502783; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956879649568796CT49568796-
NM_004393.6(DAG1):c.853G>A (p.Ala285Thr)1605DAG1Uncertain significance-1RCV001915050; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956879749568797GA49568797-
NM_004393.6(DAG1):c.854C>T (p.Ala285Val)1605DAG1Uncertain significancers1235865427RCV000801520; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956879849568798CT3:g.49568798C>T-
NM_004393.6(DAG1):c.855A>G (p.Ala285=)1605DAG1Likely benign-1RCV002202332; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956879949568799AG49568799-
NM_004393.6(DAG1):c.885G>A (p.Val295=)1605DAG1Uncertain significancers1463890255RCV001067796; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956882949568829GA3:g.49568829G>A-
NM_004393.6(DAG1):c.888T>C (p.Gly296=)1605DAG1Likely benignrs777917276RCV000925104|RCV002066015; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956883249568832TC3:g.49568832T>C-
NM_004393.6(DAG1):c.897C>A (p.Ile299=)1605DAG1Uncertain significance-1RCV001996719; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956884149568841CA49568841-
NM_004393.6(DAG1):c.902A>G (p.Asn301Ser)1605DAG1Uncertain significancers745559790RCV000702323; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956884649568846AGNC_000003.11:g.49568846A>G-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.909G>C (p.Lys303Asn)1605DAG1Uncertain significance-1RCV001951657; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956885349568853GC49568853-
NM_004393.6(DAG1):c.910C>T (p.Pro304Ser)1605DAG1Uncertain significancers147149991RCV001053278|RCV001198472; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956885449568854CT3:g.49568854C>T-
NM_004393.6(DAG1):c.920C>G (p.Pro307Arg)1605DAG1Uncertain significancers374092106RCV001063802; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956886449568864CG3:g.49568864C>G-
NM_004393.6(DAG1):c.927C>T (p.Arg309=)1605DAG1Conflicting interpretations of pathogenicityrs551679833RCV000421292|RCV000726795|RCV001089270; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956887149568871CT3:g.49568871C>TClinGen:CA2398984CN169374 not specified;
NM_004393.6(DAG1):c.928G>A (p.Val310Ile)1605DAG1Uncertain significancers755258174RCV000824561; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956887249568872GA3:g.49568872G>A-
NM_004393.6(DAG1):c.939del (p.Ile314fs)1605DAG1Uncertain significance-1RCV001364726; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956888349568883AGA49568882-
NM_004393.6(DAG1):c.954_959del (p.317TP[1])1605DAG1Uncertain significance-1RCV001932357; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956889349568898TACACCCT49568892-
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile)1605DAG1Uncertain significancers376602004RCV000177199|RCV000697501; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956890949568909CT3:g.49568909C>TClinGen:CA243309C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.967G>T (p.Ala323Ser)1605DAG1Uncertain significancers767067590RCV001246091; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956891149568911GT3:g.49568911G>T-
NM_004393.6(DAG1):c.971T>A (p.Ile324Asn)1605DAG1Uncertain significancers745449164RCV001070814; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956891549568915TA3:g.49568915T>A-
NM_004393.6(DAG1):c.999G>A (p.Glu333=)1605DAG1Likely benign-1RCV002093818; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956894349568943GA49568943-
NM_004393.6(DAG1):c.1005del (p.Ser336fs)1605DAG1Uncertain significance-1RCV001359877; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956894949568949CAC49568948-
NM_004393.6(DAG1):c.1014C>T (p.Ile338=)1605DAG1Likely benignrs773685771RCV000648804|RCV001416615; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956895849568958CTNC_000003.11:g.49568958C>TClinGen:CA2398997C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)1605DAG1Uncertain significancers148759919RCV000648789|RCV000711406; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN51720234956896649568966CT3:g.49568966C>TClinGen:CA2398999C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1026C>T (p.Pro342=)1605DAG1Likely benignrs1553652858RCV000648805; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956897049568970CT3:g.49568970C>TClinGen:CA433839125C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu)1605DAG1Uncertain significancers200233956RCV000280190|RCV000648784; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956899049568990CT3:g.49568990C>TClinGen:CA2399002C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala)1605DAG1Uncertain significancers376991799RCV000307856|RCV000533527; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956899549568995AG3:g.49568995A>GClinGen:CA2399003C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1067C>T (p.Pro356Leu)1605DAG1Uncertain significance-1RCV001929818; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956901149569011CT49569011-
NM_004393.6(DAG1):c.1074C>A (p.Val358=)1605DAG1Likely benign-1RCV001461032; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956901849569018CA49569018-
NM_004393.6(DAG1):c.1075A>G (p.Arg359Gly)1605DAG1Uncertain significancers2051347944RCV001228793; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956901949569019AG3:g.49569019A>G-
NM_004393.6(DAG1):c.1081C>T (p.Pro361Ser)1605DAG1Uncertain significance-1RCV002032142; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956902549569025CT49569025-
NM_004393.6(DAG1):c.1088C>T (p.Pro363Leu)1605DAG1Uncertain significancers2051348754RCV001216640; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956903249569032CT3:g.49569032C>T-
NM_004393.6(DAG1):c.1100C>T (p.Thr367Met)1605DAG1Uncertain significancers746712913RCV000815098; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956904449569044CT3:g.49569044C>T-
NM_004393.6(DAG1):c.1101G>A (p.Thr367=)1605DAG1Uncertain significance-1RCV001364627; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956904549569045GA49569045-
NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala)1605DAG1Uncertain significancers1553652891RCV000592785|RCV001867981; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956904949569049AG3:g.49569049A>GClinGen:CA352794737CN169374 not specified;
NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser)1605DAG1Uncertain significancers780709869RCV001297522; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956905049569050CG49569050-
NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp)1605DAG1Uncertain significancers62261248RCV001068375; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956905549569055CT3:g.49569055C>T-
NM_004393.6(DAG1):c.1122C>T (p.Gly374=)1605DAG1Likely benignrs139993618RCV000546004|RCV001442149; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956906649569066CTNC_000003.11:g.49569066C>TClinGen:CA2399017C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1130T>C (p.Ile377Thr)1605DAG1Uncertain significance-1RCV001888695; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956907449569074TC49569074-
NM_004393.6(DAG1):c.1150C>T (p.Pro384Ser)1605DAG1Uncertain significance-1RCV001898102; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956909449569094CT49569094-
NM_004393.6(DAG1):c.1181G>A (p.Gly394Asp)1605DAG1Uncertain significancers1318377074RCV001052592; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956912549569125GA3:g.49569125G>A-
NM_004393.6(DAG1):c.1182C>T (p.Gly394=)1605DAG1Uncertain significancers758186665RCV000814345; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956912649569126CT3:g.49569126C>T-
NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala)1605DAG1Uncertain significancers779846682RCV000648790; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956913049569130AG3:g.49569130A>GClinGen:CA2399028C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1193C>G (p.Pro398Arg)1605DAG1Uncertain significance-1RCV001991203; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956913749569137CG49569137-
NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu)1605DAG1Uncertain significancers537829489RCV000259820|RCV001054150; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956914949569149GT3:g.49569149G>TClinGen:CA2399031CN169374 not specified;
NM_004393.6(DAG1):c.1205G>A (p.Arg402His)1605DAG1Uncertain significancers537829489RCV000731618|RCV001039623; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956914949569149GANC_000003.11:g.49569149G>A-
NM_004393.6(DAG1):c.1206C>T (p.Arg402=)1605DAG1Conflicting interpretations of pathogenicityrs886043253RCV000298440|RCV001486789; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956915049569150CT3:g.49569150C>TClinGen:CA10605296CN169374 not specified;
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala)1605DAG1Uncertain significancers769229834RCV000591477|RCV000695924; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956915449569154AG3:g.49569154A>GClinGen:CA2399033C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1212G>A (p.Thr404=)1605DAG1Conflicting interpretations of pathogenicityrs139781017RCV000725989|RCV001087202; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956915649569156GA3:g.49569156G>AClinGen:CA2399034CN169374 not specified;
NM_004393.6(DAG1):c.1215G>A (p.Met405Ile)1605DAG1Uncertain significancers141238609RCV000593374|RCV000704466; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956915949569159GA3:g.49569159G>AClinGen:CA2399035C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1218C>A (p.Thr406=)1605DAG1Likely benign-1RCV002215823; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956916249569162CA49569162-
NM_004393.6(DAG1):c.1223C>T (p.Pro408Leu)1605DAG1Uncertain significancers2051353290RCV001217415; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956916749569167CT3:g.49569167C>T-
NM_004393.6(DAG1):c.1230T>C (p.Tyr410=)1605DAG1Likely benign-1RCV002114853; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956917449569174TC49569174-
NM_004393.6(DAG1):c.1233G>A (p.Val411=)1605DAG1Benign/Likely benignrs145765079RCV000177200|RCV000558401|RCV001289404; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956917749569177GA3:g.49569177G>AClinGen:CA202349C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1236G>T (p.Glu412Asp)1605DAG1Uncertain significancers760924685RCV001321493; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956918049569180GT49569180-
NM_004393.6(DAG1):c.1236G>A (p.Glu412=)1605DAG1Likely benign-1RCV002216812; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956918049569180GA49569180-
NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser)1605DAG1Uncertain significancers768983113RCV000728184|RCV001036264; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956918449569184ATNC_000003.11:g.49569184A>T-
NM_004393.6(DAG1):c.1251T>C (p.Ala417=)1605DAG1Conflicting interpretations of pathogenicity-1RCV001394790|RCV001820091; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN16937434956919549569195TC49569195-
NM_004393.6(DAG1):c.1255C>T (p.Pro419Ser)1605DAG1Uncertain significance-1RCV001904972; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956919949569199CT49569199-
NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu)1605DAG1Uncertain significancers770985285RCV000332901|RCV000695642; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956922449569224CT3:g.49569224C>TClinGen:CA2399045C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln)1605DAG1Uncertain significancers780793711RCV000493077|RCV001071035; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956922749569227GA3:g.49569227G>AClinGen:CA2399047CN169374 not specified;
NM_004393.6(DAG1):c.1287A>G (p.Val429=)1605DAG1Likely benignrs200282503RCV000876428; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956923149569231AG3:g.49569231A>G-
NM_004393.6(DAG1):c.1300C>T (p.Pro434Ser)1605DAG1Uncertain significancers2051356312RCV001349670; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956924449569244CT49569244-
NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala)1605DAG1Uncertain significancers149838438RCV000534438|RCV000658321; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN51720234956925049569250AG3:g.49569250A>GClinGen:CA2399050C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met)1605DAG1Uncertain significancers143573515RCV000648788|RCV000711407; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN51720234956925149569251CT3:g.49569251C>TClinGen:CA2399051C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)1605DAG1Conflicting interpretations of pathogenicityrs143763229RCV000252680|RCV000725488|RCV001088417; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956925249569252GANC_000003.11:g.49569252G>AClinGen:CA2399052C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1315A>G (p.Thr439Ala)1605DAG1Uncertain significance-1RCV001945203; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956925949569259AG49569259-
NM_004393.6(DAG1):c.1320C>T (p.Asp440=)1605DAG1Likely benign-1RCV002215913; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956926449569264CT49569264-
NM_004393.6(DAG1):c.1321T>C (p.Ser441Pro)1605DAG1Uncertain significancers899605177RCV001349656; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956926549569265TC49569265-
NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del)1605DAG1Uncertain significance-1RCV001878161; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956926649569268TCCAT49569265-
NM_004393.6(DAG1):c.1323C>T (p.Ser441=)1605DAG1Likely benign-1RCV002081755; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956926749569267CT49569267-
NM_004393.6(DAG1):c.1356A>G (p.Lys452=)1605DAG1Likely benign-1RCV001476418; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956930049569300AG49569300-
NM_004393.6(DAG1):c.1358C>T (p.Pro453Leu)1605DAG1Uncertain significance-1RCV001997377; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956930249569302CT49569302-
NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp)1605DAG1Uncertain significancers369872091RCV000177197|RCV000702399; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956930449569304CT3:g.49569304C>TClinGen:CA243303C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1360del (p.Arg454fs)1605DAG1Uncertain significancers2051359062RCV001300185; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956930449569304ACA49569303-
NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp)1605DAG1Uncertain significancers544574838RCV000804136; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956931349569313CT3:g.49569313C>T-
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln)1605DAG1Uncertain significancers756890406RCV000300328|RCV001226324; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956931449569314GA3:g.49569314G>AClinGen:CA2399069CN169374 not specified;
NM_004393.6(DAG1):c.1379C>T (p.Pro460Leu)1605DAG1Uncertain significance-1RCV002014112; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956932349569323CT49569323-
NM_004393.6(DAG1):c.1382G>A (p.Arg461Gln)1605DAG1Uncertain significance-1RCV001917469; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956932649569326GA49569326-
NM_004393.6(DAG1):c.1399T>C (p.Ser467Pro)1605DAG1Uncertain significance-1RCV001977630; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956934349569343TC49569343-
NM_004393.6(DAG1):c.1401C>T (p.Ser467=)1605DAG1Likely benignrs1222765845RCV000546919|RCV001434028; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956934549569345CTNC_000003.11:g.49569345C>TClinGen:CA433839653C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1432A>G (p.Thr478Ala)1605DAG1Uncertain significancers767278957RCV000306930|RCV001343756; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956937649569376AG3:g.49569376A>GClinGen:CA2399081CN169374 not specified;
NM_004393.6(DAG1):c.1436G>A (p.Arg479His)1605DAG1Uncertain significancers369458042RCV000177198|RCV001852185; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956938049569380GA3:g.49569380G>AClinGen:CA243306CN169374 not specified;
NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys)1605DAG1Uncertain significancers763653277RCV001302386; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956938549569385CT49569385-
NM_004393.6(DAG1):c.1445C>T (p.Thr482Ile)1605DAG1Uncertain significance-1RCV001368486; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956938949569389CT49569389-
NM_004393.6(DAG1):c.1452C>A (p.Thr484=)1605DAG1Likely benign-1RCV001474030; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956939649569396CA49569396-
NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs)1605DAG1Uncertain significance-1RCV001364580; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956939749569398AAC49569397-
NM_004393.6(DAG1):c.1454G>A (p.Ser485Asn)1605DAG1Uncertain significancers764859263RCV000595465|RCV001867971; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956939849569398GA3:g.49569398G>AClinGen:CA2399086CN169374 not specified;
NM_004393.6(DAG1):c.1462C>G (p.Pro488Ala)1605DAG1Uncertain significance-1RCV001373027; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956940649569406CG49569406-
NM_004393.6(DAG1):c.1465del (p.Arg489fs)1605DAG1Uncertain significance-1RCV002011323; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956940649569406GCG49569405-
NM_004393.6(DAG1):c.1466G>A (p.Arg489His)1605DAG1Uncertain significance-1RCV002027264; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956941049569410GA49569410-
NM_004393.6(DAG1):c.1470C>T (p.Gly490=)1605DAG1Likely benignrs545248602RCV000936580|RCV001492673; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956941449569414CT3:g.49569414C>T-
NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg)1605DAG1Uncertain significancers199728911RCV001217575; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956941549569415GA3:g.49569415G>A-
NM_004393.6(DAG1):c.1476A>C (p.Glu492Asp)1605DAG1Uncertain significancers1251608960RCV001346283; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956942049569420AC49569420-
NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu)1605DAG1Uncertain significancers199519832RCV000518144|RCV000648795; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956943149569431GTNC_000003.11:g.49569431G>TClinGen:CA2399093C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala)1605DAG1Uncertain significancers376508721RCV000648798; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956943349569433CG3:g.49569433C>GClinGen:CA352795481C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1492_1494del (p.Glu498del)1605DAG1Uncertain significancers1553653093RCV000648802; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956943649569438AGAGA3:g.49569436_49569438delClinGen:CA658796321C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1514G>A (p.Arg505Lys)1605DAG1Uncertain significance-1RCV001950357; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956945849569458GA49569458-
NM_004393.6(DAG1):c.1532G>A (p.Gly511Asp)1605DAG1Uncertain significance-1RCV001928382; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956947649569476GA49569476-
NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile)1605DAG1Uncertain significancers527867946RCV000559357; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956947949569479CTNC_000003.11:g.49569479C>TClinGen:CA2399099C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys)1605DAG1Uncertain significancers142703906RCV000705913; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956948749569487GANC_000003.11:g.49569487G>A-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1556C>T (p.Pro519Leu)1605DAG1Uncertain significancers761585454RCV001220098; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956950049569500CT3:g.49569500C>T-
NM_004393.6(DAG1):c.1557G>A (p.Pro519=)1605DAG1Likely benign-1RCV001483800; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956950149569501GA49569501-
NM_004393.6(DAG1):c.1569C>G (p.Phe523Leu)1605DAG1Uncertain significance-1RCV002014047; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956951349569513CG49569513-
NM_004393.6(DAG1):c.1621C>T (p.Arg541Trp)1605DAG1Uncertain significance-1RCV002027790; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956956549569565CT49569565-
NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln)1605DAG1Uncertain significancers1425201998RCV000732188|RCV001327018; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956956649569566GANC_000003.11:g.49569566G>A-
NM_004393.6(DAG1):c.1641C>T (p.Gly547=)1605DAG1Conflicting interpretations of pathogenicityrs374490206RCV000273500|RCV001087927; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956958549569585CT3:g.49569585C>TClinGen:CA2399111CN169374 not specified;
NM_004393.6(DAG1):c.1656A>G (p.Val552=)1605DAG1Likely benign-1RCV001494770; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956960049569600AG49569600-
NM_004393.6(DAG1):c.1662C>T (p.Phe554=)1605DAG1Likely benign-1RCV001495025; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956960649569606CT49569606-
NM_004393.6(DAG1):c.1688G>A (p.Gly563Asp)1605DAG1Uncertain significance-1RCV002025876; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956963249569632GA49569632-
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)1605DAG1Conflicting interpretations of pathogenicityrs199894361RCV000390758|RCV000725241|RCV000704955; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956963449569634CA3:g.49569634C>AClinGen:CA2399120C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1695C>T (p.Pro565=)1605DAG1Conflicting interpretations of pathogenicityrs773066265RCV000332348|RCV001446984; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956963949569639CT3:g.49569639C>TClinGen:CA2399121CN169374 not specified;
NM_004393.6(DAG1):c.1701C>T (p.Ser567=)1605DAG1Benignrs142579425RCV000244261|RCV000535392; NMedGen:CN169374|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956964549569645CTNC_000003.11:g.49569645C>TClinGen:CA2399124C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1705C>T (p.His569Tyr)1605DAG1Uncertain significancers1559579950RCV000693133; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956964949569649CT3:g.49569649C>T-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1708G>A (p.Val570Met)1605DAG1Uncertain significancers370669533RCV000498181|RCV001043597; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956965249569652GA3:g.49569652G>AClinGen:CA2399126CN169374 not specified;
NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr)1605DAG1Uncertain significance-1RCV001878172; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956965949569659AC49569659-
NM_004393.6(DAG1):c.1719C>T (p.His573=)1605DAG1Conflicting interpretations of pathogenicityrs146157416RCV000276518|RCV000726227|RCV001478563; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956966349569663CT3:g.49569663C>TClinGen:CA2399130CN169374 not specified;
NM_004393.6(DAG1):c.1747G>A (p.Gly583Arg)1605DAG1Uncertain significance-1RCV001945714; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956969149569691GA49569691-
NM_004393.6(DAG1):c.1750_1751delinsT (p.Gly584fs)1605DAG1Uncertain significancers2051374109RCV001246589; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956969449569695GGT3:g.49569695_49569695del-
NM_004393.6(DAG1):c.1751G>T (p.Gly584Val)1605DAG1Uncertain significancers547711379RCV001312682; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956969549569695GT49569695-
NM_004393.6(DAG1):c.1752C>A (p.Gly584=)1605DAG1Likely benignrs769750924RCV000941902; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956969649569696CA3:g.49569696C>A-
NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro)1605DAG1Uncertain significance-1RCV001940543; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956970049569700TC49569700-
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu)1605DAG1Uncertain significancers371990100RCV000648800|RCV000711408; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956970149569701CT3:g.49569701C>TClinGen:CA2399139C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1773C>T (p.Phe591=)1605DAG1Conflicting interpretations of pathogenicityrs2229010RCV000024447|RCV001088550; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956971749569717CT3:g.49569717C>TClinGen:CA215252,Leiden Muscular Dystrophy (DAG1):DAG1_00005C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys)1605DAG1Uncertain significancers759029561RCV000380012|RCV001859712; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956971849569718GA3:g.49569718G>AClinGen:CA2399141CN169374 not specified;
NM_004393.6(DAG1):c.1785C>T (p.Val595=)1605DAG1Likely benignrs762148188RCV000877208|RCV001289405; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956972949569729CT3:g.49569729C>T-
NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys)1605DAG1Uncertain significancers750567574RCV000733598|RCV001855785; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956973649569736CTNC_000003.11:g.49569736C>T-
NM_004393.6(DAG1):c.1793G>A (p.Arg598His)1605DAG1Uncertain significance-1RCV001863333; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956973749569737GA49569737-
NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg)1605DAG1Uncertain significancers369180031RCV000594837|RCV001040592; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956974349569743AG3:g.49569743A>GClinGen:CA2399149CN169374 not specified;
NM_004393.6(DAG1):c.1800A>T (p.Gln600His)1605DAG1Uncertain significance-1RCV001973579; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956974449569744AT49569744-
NM_004393.6(DAG1):c.1804G>A (p.Asp602Asn)1605DAG1Uncertain significance-1RCV001911166; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956974849569748GA49569748-
NM_004393.6(DAG1):c.1812T>A (p.Ala604=)1605DAG1Likely benign-1RCV002118586; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956975649569756TA49569756-
NM_004393.6(DAG1):c.1813C>G (p.Pro605Ala)1605DAG1Uncertain significance-1RCV002009315; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956975749569757CG49569757-
NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg)1605DAG1Uncertain significancers200798800RCV000648801; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956977049569770AGNC_000003.11:g.49569770A>GClinGen:CA74522428C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1829C>T (p.Ala610Val)1605DAG1Uncertain significancers537920451RCV000805469; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956977349569773CT3:g.49569773C>T-
NM_004393.6(DAG1):c.1838_1839del (p.Val613fs)1605DAG1Uncertain significance-1RCV001761726; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956978049569781TTGT49569779-
NM_004393.6(DAG1):c.1839G>T (p.Val613=)1605DAG1Likely benignrs1247864796RCV000936373|RCV001474209; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956978349569783GT3:g.49569783G>T-
NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser)1605DAG1Uncertain significance-1RCV001966015; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956979049569790CT49569790-
NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu)1605DAG1Uncertain significancers200334256RCV000800631; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956979149569791CT3:g.49569791C>T-
NM_004393.6(DAG1):c.1848G>A (p.Pro616=)1605DAG1Conflicting interpretations of pathogenicityrs762334457RCV000326601|RCV002059311; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956979249569792GA3:g.49569792G>AClinGen:CA2399161CN169374 not specified;
NM_004393.6(DAG1):c.1874AGA[1] (p.Lys626del)1605DAG1Uncertain significancers745350022RCV000592314|RCV001867916; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956981749569819CAAGC3:g.49569817_49569819delClinGen:CA2399164CN169374 not specified;
NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe)1605DAG1Uncertain significancers1559580384RCV000704656; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956982749569831CCTTGACTTTNC_000003.11:g.49569827_49569831delinsACTTT-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1892A>G (p.Lys631Arg)1605DAG1Uncertain significancers767737971RCV001325109; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956983649569836AG49569836-
NM_004393.6(DAG1):c.1905C>T (p.Phe635=)1605DAG1Conflicting interpretations of pathogenicityrs577609846RCV000402242|RCV001081466; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956984949569849CT3:g.49569849C>TClinGen:CA2399171CN169374 not specified;
NM_004393.6(DAG1):c.1911del (p.Phe637fs)1605DAG1Uncertain significance-1RCV001978385; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956985349569853CTC49569852-
NM_004393.6(DAG1):c.1915G>C (p.Asp639His)1605DAG1Uncertain significance-1RCV002044019; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956985949569859GC49569859-
NM_004393.6(DAG1):c.1918C>G (p.Arg640Gly)1605DAG1Uncertain significance-1RCV001907204; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956986249569862CG49569862-
NM_004393.6(DAG1):c.1919G>A (p.Arg640Gln)1605DAG1Uncertain significance-1RCV001970959; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956986349569863GA49569863-
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr)1605DAG1Uncertain significancers1559580460RCV001067500|RCV001289406; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956986949569869GA3:g.49569869G>A-
NM_004393.6(DAG1):c.1937C>T (p.Thr646Ile)1605DAG1Uncertain significance-1RCV001992095; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956988149569881CT49569881-
NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp)1605DAG1Uncertain significancers151272832RCV000292624|RCV001859613; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956989849569898CT3:g.49569898C>TClinGen:CA2399178CN169374 not specified;
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu)1605DAG1Uncertain significancers368810294RCV001289407|RCV001358888; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956989949569899GT49569899-
NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln)1605DAG1Uncertain significance-1RCV001915075; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956989949569899GA49569899-
NM_004393.6(DAG1):c.1956G>C (p.Arg652=)1605DAG1Likely benignrs1413224403RCV000906781|RCV002065748; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956990049569900GC3:g.49569900G>C-
NM_004393.6(DAG1):c.1962C>T (p.Ser654=)1605DAG1Likely benign-1RCV001419519; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956990649569906CT49569906-
NM_004393.6(DAG1):c.1965C>T (p.Ile655=)1605DAG1Conflicting interpretations of pathogenicityrs763343344RCV000732556|RCV001470084; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956990949569909CTNC_000003.11:g.49569909C>T-
NM_004393.6(DAG1):c.1966G>A (p.Val656Met)1605DAG1Uncertain significancers1313375346RCV000648793; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956991049569910GANC_000003.11:g.49569910G>AClinGen:CA352796525C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1969G>C (p.Val657Leu)1605DAG1Uncertain significance-1RCV002033153; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956991349569913GC49569913-
NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter)1605DAG1Uncertain significancers1553653437RCV000536199; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956992149569921GANC_000003.11:g.49569921G>AClinGen:CA352796551C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.1982_1983delinsTT (p.Asn661Ile)1605DAG1Uncertain significancers2051384851RCV001210568; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956992649569927ACTTNC_000003.11:g.49569926_49569927delinsTT-
NM_004393.6(DAG1):c.1992G>A (p.Leu664=)1605DAG1Likely benign-1RCV002179083; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956993649569936GA49569936-
NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp)1605DAG1Uncertain significancers767648246RCV000818362; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956994549569945GT3:g.49569945G>T-
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)1605DAG1Uncertain significancers797045023RCV000190547|RCV001224389|RCV001781562; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MedGen:CN51720234956995049569950GT3:g.49569950G>TClinGen:CA204529,UniProtKB:Q14118#VAR_075811,OMIM:128239.0004C4225291 616538 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;
NM_004393.6(DAG1):c.2011A>T (p.Lys671Ter)1605DAG1Uncertain significance-1RCV001907692; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956995549569955AT49569955-
NM_004393.6(DAG1):c.2018A>C (p.Gln673Pro)1605DAG1Uncertain significance-1RCV001993020; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956996249569962AC49569962-
NM_004393.6(DAG1):c.2022C>T (p.Ile674=)1605DAG1Likely benign-1RCV002195971; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956996649569966CT49569966-
NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr)1605DAG1Uncertain significancers764063699RCV000818668; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956996749569967GA3:g.49569967G>A-
NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg)1605DAG1Uncertain significance-1RCV002003118; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956997049569970GC49569970-
NM_004393.6(DAG1):c.2035C>T (p.Arg679Cys)1605DAG1Uncertain significancers778608269RCV000371914|RCV001344862; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956997949569979CT3:g.49569979C>TClinGen:CA2399192CN169374 not specified;
NM_004393.6(DAG1):c.2036G>A (p.Arg679His)1605DAG1Likely benignrs113904914RCV000247613|RCV000548834|RCV001088750; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956998049569980GA3:g.49569980G>AClinGen:CA2399193C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2038C>T (p.Arg680Trp)1605DAG1Uncertain significance-1RCV001941476; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956998249569982CT49569982-
NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln)1605DAG1Uncertain significancers376931365RCV000353577|RCV001332440|RCV001217055; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956998349569983GA3:g.49569983G>AClinGen:CA2399196CN169374 not specified;
NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr)1605DAG1Uncertain significancers561289962RCV000807801; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334956998849569988GA3:g.49569988G>A-
NM_004393.6(DAG1):c.2051A>G (p.Asp684Gly)1605DAG1Uncertain significance-1RCV002001484; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934956999549569995AG49569995-
NM_004393.6(DAG1):c.2068C>T (p.Pro690Ser)1605DAG1Uncertain significance-1RCV001931569; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957001249570012CT49570012-
NM_004393.6(DAG1):c.2082C>T (p.Asn694=)1605DAG1Conflicting interpretations of pathogenicityrs146453412RCV000329373|RCV001084566; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957002649570026CT3:g.49570026C>TClinGen:CA2399204C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2083G>A (p.Ala695Thr)1605DAG1Uncertain significancers764107385RCV000595420|RCV001352292; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957002749570027GA3:g.49570027G>AClinGen:CA2399205CN169374 not specified;
NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu)1605DAG1Uncertain significancers141697036RCV000648791; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957004449570044TG3:g.49570044T>GClinGen:CA352796809C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala)1605DAG1Uncertain significancers138386617RCV001043663; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957006049570060AG3:g.49570060A>G-
NM_004393.6(DAG1):c.2116A>C (p.Thr706Pro)1605DAG1Uncertain significance-1RCV001911174; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957006049570060AC49570060-
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met)1605DAG1Uncertain significancers758254304RCV000733878|RCV000818915; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957006749570067CTNC_000003.11:g.49570067C>T-
NM_004393.6(DAG1):c.2124G>C (p.Thr708=)1605DAG1Conflicting interpretations of pathogenicityrs140204495RCV000598362|RCV001394001; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957006849570068GC3:g.49570068G>CClinGen:CA74522566CN169374 not specified;
NM_004393.6(DAG1):c.2124G>A (p.Thr708=)1605DAG1Uncertain significancers140204495RCV000698656; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957006849570068GANC_000003.11:g.49570068G>A-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2140C>T (p.Arg714Trp)1605DAG1Uncertain significancers751260925RCV001068632; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957008449570084CT3:g.49570084C>T-
NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln)1605DAG1Uncertain significancers201488118RCV000541817; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957008549570085GA3:g.49570085G>AClinGen:CA2399214C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2174G>T (p.Arg725Met)1605DAG1Uncertain significancers775808647RCV001208111; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957011849570118GT3:g.49570118G>T-
NM_004393.6(DAG1):c.2184C>T (p.Pro728=)1605DAG1Conflicting interpretations of pathogenicityrs1553653579RCV000598322|RCV002062108; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957012849570128CT3:g.49570128C>TClinGen:CA433840154CN169374 not specified;
NM_004393.6(DAG1):c.2192C>T (p.Ala731Val)1605DAG1Conflicting interpretations of pathogenicityrs375071274RCV000325409|RCV001500518; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957013649570136CT3:g.49570136C>TClinGen:CA2399224CN169374 not specified;
NM_004393.6(DAG1):c.2193G>A (p.Ala731=)1605DAG1Likely benign-1RCV002193976; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957013749570137GA49570137-
NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu)1605DAG1Uncertain significance-1RCV001917062; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957013949570139CT49570139-
NM_004393.6(DAG1):c.2196G>A (p.Pro732=)1605DAG1Conflicting interpretations of pathogenicityrs773172058RCV000177202|RCV001397474; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957014049570140GA3:g.49570140G>AClinGen:CA243315CN169374 not specified;
NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro)1605DAG1Uncertain significance-1RCV001968644; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957014449570144AC49570144-
NM_004393.6(DAG1):c.2201C>G (p.Thr734Arg)1605DAG1Uncertain significance-1RCV001866669; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957014549570145CG49570145-
NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs)1605DAG1Conflicting interpretations of pathogenicity-1RCV001362845|RCV001762625; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957015949570160CAGC49570158-
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr)1605DAG1Benignrs114357468RCV000217845|RCV000554129; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957017549570175GC3:g.49570175G>CClinGen:CA2399231C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2240A>T (p.Asp747Val)1605DAG1Uncertain significance-1RCV002027331; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957018449570184AT49570184-
NM_004393.6(DAG1):c.2245G>A (p.Val749Ile)1605DAG1Uncertain significancers1559581311RCV000686727|RCV000730208; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN51720234957018949570189GA3:g.49570189G>A-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2251C>T (p.Leu751=)1605DAG1Conflicting interpretations of pathogenicityrs1553653673RCV000597405|RCV002062080; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957019549570195CT3:g.49570195C>TClinGen:CA433840206CN169374 not specified;
NM_004393.6(DAG1):c.2256C>T (p.His752=)1605DAG1Benignrs1801143RCV000024446|RCV000116863|RCV000609944|RCV001514706; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957020049570200CT3:g.49570200C>TClinGen:CA152545,Leiden Muscular Dystrophy (DAG1):DAG1_00004C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2267C>T (p.Pro756Leu)1605DAG1Uncertain significance-1RCV001947883; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957021149570211CT49570211-
NM_004393.6(DAG1):c.2271C>T (p.Ala757=)1605DAG1Benignrs78281659RCV000440281|RCV000525746; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957021549570215CT3:g.49570215C>TClinGen:CA2399236C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2293C>A (p.Leu765Ile)1605DAG1Uncertain significancers905804433RCV001346881; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957023749570237CA49570237-
NM_004393.6(DAG1):c.2294T>C (p.Leu765Pro)1605DAG1Uncertain significance-1RCV002031065; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957023849570238TC49570238-
NM_004393.6(DAG1):c.2303G>T (p.Gly768Val)1605DAG1Uncertain significancers1553653701RCV000648794; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957024749570247GTNC_000003.11:g.49570247G>TClinGen:CA352797399C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2307C>G (p.Ile769Met)1605DAG1Uncertain significance-1RCV001999560; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957025149570251CG49570251-
NM_004393.6(DAG1):c.2313C>T (p.Ala771=)1605DAG1Conflicting interpretations of pathogenicityrs764289801RCV000284282|RCV001088156; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957025749570257CT3:g.49570257C>TClinGen:CA2399243C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2314A>G (p.Met772Val)1605DAG1Uncertain significancers1054272302RCV001236328; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957025849570258AG3:g.49570258A>G-
NM_004393.6(DAG1):c.2315dup (p.Met772fs)1605DAG1Uncertain significance-1RCV001886642; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957025849570259AAT49570258-
NM_004393.6(DAG1):c.2322C>T (p.Cys774=)1605DAG1Likely benignrs759442412RCV000968858; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957026649570266CT3:g.49570266C>T-
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys)1605DAG1Uncertain significancers752441031RCV000393636|RCV000807544; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957027049570270CT3:g.49570270C>TClinGen:CA2399247CN169374 not specified;
NM_004393.6(DAG1):c.2327G>A (p.Arg776His)1605DAG1Uncertain significance-1RCV002012261; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957027149570271GA49570271-
NM_004393.6(DAG1):c.2330A>G (p.Lys777Arg)1605DAG1Uncertain significance-1RCV001889425; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957027449570274AG49570274-
NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln)1605DAG1Uncertain significancers1283360967RCV000817169; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957028049570280GA3:g.49570280G>A-
NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp)1605DAG1Uncertain significancers1223724355RCV000807097; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957028649570286GA3:g.49570286G>A-
NM_004393.6(DAG1):c.2349T>C (p.Leu783=)1605DAG1Conflicting interpretations of pathogenicityrs201280782RCV000594656|RCV002062017; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957029349570293TC3:g.49570293T>CClinGen:CA2399250CN169374 not specified;
NM_004393.6(DAG1):c.2366C>T (p.Ala789Val)1605DAG1Uncertain significancers1426926145RCV000695054; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957031049570310CTNC_000003.11:g.49570310C>T-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2370C>G (p.Thr790=)1605DAG1Likely benignrs200927931RCV000953906|RCV001406875; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957031449570314CG3:g.49570314C>G-
NM_004393.6(DAG1):c.2382G>A (p.Lys794=)1605DAG1Likely benign-1RCV002085135; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957032649570326GA49570326-
NM_004393.6(DAG1):c.2388G>A (p.Val796=)1605DAG1Likely benignrs542910395RCV000911012|RCV002065802; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957033249570332GA3:g.49570332G>A-
NM_004393.6(DAG1):c.2392A>G (p.Ile798Val)1605DAG1Uncertain significancers1290898131RCV001347088; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957033649570336AG49570336-
NM_004393.6(DAG1):c.2406C>T (p.Asp802=)1605DAG1Likely benignrs146134719RCV000439218|RCV002063470; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957035049570350CT3:g.49570350C>TClinGen:CA2399257CN169374 not specified;
NM_004393.6(DAG1):c.2415C>T (p.Asp805=)1605DAG1Conflicting interpretations of pathogenicityrs749427996RCV000734118|RCV001088441; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957035949570359CTNC_000003.11:g.49570359C>T-
NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser)1605DAG1Uncertain significancers368597067RCV000503519|RCV000648787; NMedGen:CN169374|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957037549570375CTNC_000003.11:g.49570375C>TClinGen:CA2399264C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2451C>T (p.Leu817=)1605DAG1Conflicting interpretations of pathogenicityrs886042761RCV000365250|RCV002059142; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957039549570395CT3:g.49570395C>TClinGen:CA10604652CN169374 not specified;
NM_004393.6(DAG1):c.2451C>G (p.Leu817=)1605DAG1Likely benignrs886042761RCV000939227; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957039549570395CG3:g.49570395C>G-
NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser)1605DAG1Uncertain significancers141562264RCV000692605; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957042349570423CTNC_000003.11:g.49570423C>T-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2481C>G (p.Pro827=)1605DAG1Likely benign-1RCV001480702; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957042549570425CG49570425-
NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr)1605DAG1Uncertain significance-1RCV001893578; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957042649570426CA49570426-
NM_004393.6(DAG1):c.2493C>T (p.Tyr831=)1605DAG1Likely benign-1RCV002201450; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957043749570437CT49570437-
NM_004393.6(DAG1):c.2510C>G (p.Pro837Arg)1605DAG1Uncertain significancers886043326RCV000292664|RCV001859641; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957045449570454CG3:g.49570454C>GClinGen:CA10605382CN169374 not specified;
NM_004393.6(DAG1):c.2511C>T (p.Pro837=)1605DAG1Likely benignrs778665335RCV000542744; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957045549570455CT3:g.49570455C>TClinGen:CA2399278C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys)1605DAG1Uncertain significancers745846165RCV000813450; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957045649570456GA3:g.49570456G>A-
NM_004393.6(DAG1):c.2520T>C (p.Thr840=)1605DAG1Benign/Likely benignrs149564053RCV000288741|RCV000555044|RCV001705418; NMedGen:CN169374|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333|MedGen:CN51720234957046449570464TC3:g.49570464T>CClinGen:CA2399280C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro)1605DAG1Uncertain significancers775365808RCV000798327; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957048049570480AC3:g.49570480A>C-
NM_004393.6(DAG1):c.2546A>T (p.Glu849Val)1605DAG1Uncertain significance-1RCV001370895; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957049049570490AT49570490-
NM_004393.6(DAG1):c.2552C>T (p.Thr851Met)1605DAG1Uncertain significancers977000024RCV000824629; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957049649570496CT3:g.49570496C>T-
NM_004393.6(DAG1):c.2555C>T (p.Pro852Leu)1605DAG1Uncertain significance-1RCV001929867; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957049949570499CT49570499-
NM_004393.6(DAG1):c.2556C>A (p.Pro852=)1605DAG1Likely benign-1RCV001446551; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957050049570500CA49570500-
NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln)1605DAG1Uncertain significancers199933395RCV000294616|RCV000531222; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957050549570505GA3:g.49570505G>AClinGen:CA2399291C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser)1605DAG1Uncertain significancers754079735RCV000648786; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957052049570520AGNC_000003.11:g.49570520A>GClinGen:CA2399293C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2579C>T (p.Ala860Val)1605DAG1Uncertain significance-1RCV002021333; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957052349570523CT49570523-
NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys)1605DAG1Uncertain significancers1436774690RCV000694145; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957053249570532AGNC_000003.11:g.49570532A>G-C3151184 613818 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;
NM_004393.6(DAG1):c.2600C>T (p.Pro867Leu)1605DAG1Uncertain significancers199506692RCV001036004; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957054449570544CT3:g.49570544C>T-
NM_004393.6(DAG1):c.2632T>C (p.Ser878Pro)1605DAG1Uncertain significance-1RCV001986693; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957057649570576TC49570576-
NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys)1605DAG1Uncertain significancers147831615RCV000809891; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957057949570579CT3:g.49570579C>T-
NM_004393.6(DAG1):c.2645A>G (p.Asn882Ser)1605DAG1Uncertain significance-1RCV001893640; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957058949570589AG49570589-
NM_004393.6(DAG1):c.2647A>G (p.Met883Val)1605DAG1Uncertain significancers754908618RCV000732019|RCV001372717; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957059149570591AGNC_000003.11:g.49570591A>G-
NM_004393.6(DAG1):c.2648T>C (p.Met883Thr)1605DAG1Uncertain significance-1RCV001933098; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957059249570592TC49570592-
NM_004393.6(DAG1):c.2652C>A (p.Thr884=)1605DAG1Conflicting interpretations of pathogenicityrs762428862RCV000595656|RCV002065160; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957059649570596CA3:g.49570596C>AClinGen:CA2399305CN169374 not specified;
NM_004393.6(DAG1):c.2659C>T (p.Arg887Trp)1605DAG1Uncertain significancers148461041RCV000733730|RCV001868987; NMedGen:CN517202|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957060349570603CTNC_000003.11:g.49570603C>T-
NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln)1605DAG1Uncertain significance-1RCV001910790; NMONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957060449570604GA49570604-
NM_004393.6(DAG1):c.2661G>T (p.Arg887=)1605DAG1Likely benign-1RCV001469510; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957060549570605GT49570605-
NM_004393.6(DAG1):c.2667T>A (p.Pro889=)1605DAG1Likely benignrs760977919RCV000872114|RCV001500496; NMedGen:CN517202|MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:280333; MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:89934957061149570611TA3:g.49570611T>A-
NM_004393.6(DAG1):c.2675A>G (p.Tyr892Cys)1605DAG1Uncertain significance-1RCV002023208; NMONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538, Orphanet:370997, Orphanet:899; MONDO:MONDO:0013440,MedGen:C3151184,OMIM:613818, Orphanet:28033334957061949570619AG49570619-
MSeqDR Portal