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Parent Node:
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Muscular Dystrophies, Limb-Girdle (D049288)
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Limb-girdle muscular dystrophy, type 2B (C535899)

       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:7061
Name:Limb-girdle muscular dystrophy, type 2B
Definition:
Alternative IDs:OMIM:253601
ParentIDs:MESH:D049288
TreeNumbers:C05.651.534.500.280/C535899 |C10.668.491.175.500.149/C535899 |C16.320.577.280/C535899
Synonyms:LGMD2B |LGMD3 |LGMDR2 |MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 |Muscular Dystrophy, Limb-Girdle, Type 2B |Muscular dystrophy, limb-girdle, type 3
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C535899
MeSH: C535899
OMIM: 253601;
MSeqDR LSDB:  
Genes: DYSF;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003551Difficulty climbing stairs
3 HP:0009046Difficulty running
4 HP:0003236Elevated serum creatine phosphokinase
5 HP:0003458EMG: myopathic abnormalities
6 HP:0009025Increased connective tissue
7 HP:0003557Increased variability in muscle fiber diameter
8 HP:0003555Muscle fiber splitting
9 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
10 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
11 HP:0003677Slow progression
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)825CAPN3Conflicting interpretations of pathogenicity200759807RCV001200923|RCV002261300; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720215427004214270042115:g.42700421G>C-
NM_003494.4(DYSF):c.1A>G (p.Met1Val)8291DYSFLikely pathogenic1259378167RCV000671280; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271681129716811292:g.71681129A>G-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)8291DYSFLikely pathogenic1459713589RCV000668555|RCV001377517; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271681130716811302:g.71681130T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)8291DYSFUncertain significance1354334539RCV000598153|RCV001041107|RCV001273958; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271681145716811452:g.71681145T>AClinGen:CA347205929CN169374 not specified;
NM_003494.4(DYSF):c.27C>G (p.Ala9=)8291DYSFLikely benign771520271RCV000939808|RCV001832143; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827168115571681155-
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)8291DYSFLikely pathogenic1553495983RCV000675027; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271681192716811932:g.71681192_71681193insCCTA-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_003494.4(DYSF):c.75C>T (p.Ser25=)8291DYSFLikely benign375772222RCV000669660|RCV001466774; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327168120371681203-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del)8291DYSFLikely benign1553501109RCV000674971; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271694017716940192:g.71694017_71694019del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)8291DYSFConflicting interpretations of pathogenicity539484245RCV001244563|RCV001829933|RCV003145481; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271708019717080192:g.71708019A>C-
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)8291DYSFPathogenic398123764RCV000175751|RCV001050376|RCV001273959|RCV003415847|RCV003466977; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268||MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827170803071708031NC_000002.11:g.71708031_71708032delClinGen:CA222121C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)8291DYSFLikely pathogenic2082829594RCV001264239; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271708039717080392:g.71708039A>T-
NM_001130987.2(DYSF):c.126C>T (p.Ser42=)8291DYSFLikely benign369755508RCV000905829|RCV001832038; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271708047717080472:g.71708047C>T-
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)8291DYSFConflicting interpretations of pathogenicity374203339RCV000536797|RCV000711545|RCV001835762; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271708048717080482:g.71708048G>AClinGen:CA1705230C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)8291DYSFConflicting interpretations of pathogenicity772240035RCV000596018|RCV000814681|RCV001829688|RCV002532670; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327170805371708053NC_000002.11:g.71708053C>AClinGen:CA1705231CN169374 not specified;
NM_001130987.2(DYSF):c.147+1G>A8291DYSFPathogenic2082833010RCV001249863; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271708069717080692:g.71708069G>A-
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)8291DYSFPathogenic886042641RCV000323798|RCV000695592|RCV000984260; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271709020717090202:g.71709020G>AClinGen:CA10604511C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu)8291DYSFConflicting interpretations of pathogenicity566595009RCV001303550|RCV001830198|RCV002070129; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C36619002717090377170903771709037-
NM_001130987.2(DYSF):c.181del (p.Asp61fs)8291DYSFLikely pathogenic-1RCV002306608; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717090417170904171709040-
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)8291DYSFLikely pathogenic2082945195RCV001264240; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271709054717090542:g.71709054G>T-
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)8291DYSFPathogenic121908957RCV000007058|RCV000681612; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827170906471709065NC_000002.11:g.71709064_71709065delinsATClinGen:CA253907,OMIM:603009.0009C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)8291DYSFConflicting interpretations of pathogenicity886042878RCV000596973|RCV000725459; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271709070717090702:g.71709070T>GClinGen:CA10604804C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)8291DYSFConflicting interpretations of pathogenicity200957354RCV000305839|RCV000406068|RCV000591502|RCV000711551|RCV001080690|RCV001276713; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827170908671709086NC_000002.11:g.71709086G>AClinGen:CA1705260CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.240-7C>T8291DYSFLikely benign746083673RCV000907855|RCV001276714; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271730337717303372:g.71730337C>T-
NM_001130987.2(DYSF):c.240-1G>A8291DYSFLikely pathogenic1553518087RCV000671668; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271730343717303432:g.71730343G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.246G>A (p.Leu82=)8291DYSFConflicting interpretations of pathogenicity756463088RCV000178192|RCV000810796|RCV001832021; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827173035071730350NC_000002.11:g.71730350G>AClinGen:CA245222CN169374 not specified;
NM_001130987.2(DYSF):c.249G>C (p.Gly83=)8291DYSFLikely benign550993602RCV000925381|RCV001273960; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271730353717303532:g.71730353G>C-
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)8291DYSFPathogenic794727636RCV000178195|RCV000724670|RCV001040341|RCV003462284; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827173037271730372NC_000002.11:g.71730372C>TClinGen:CA275254C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)8291DYSFUncertain significance370745710RCV000728766|RCV001563732|RCV001563731|RCV001563733|RCV001862157; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207027173037371730373NC_000002.11:g.71730373G>A-
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup)8291DYSFUncertain significance1172863089RCV001054733|RCV001827344|RCV003145302; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271730382717303832:g.71730382_71730383insCGCCACCCCTAGTCTGTCCGC-
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr)8291DYSFUncertain significance759171890RCV000516754|RCV001137474|RCV001273961; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827173038471730384NC_000002.11:g.71730384G>AClinGen:CA1705301CN169374 not specified;
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)8291DYSFLikely benign759171890RCV000647989|RCV001835044; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827173038471730384NC_000002.11:g.71730384G>CClinGen:CA1705302C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg)8291DYSFUncertain significance762400168RCV000648006|RCV001276715|RCV001766397|RCV003352968; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MeSH:D030342,MedGen:C095012327173039371730393NC_000002.11:g.71730393A>CClinGen:CA1705304C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.298_300del (p.Ala100del)8291DYSFUncertain significance1316197789RCV000667363; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271730400717304022:g.71730400_71730402del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.297C>T (p.Ser99=)8291DYSFLikely benign763710844RCV000973078|RCV001276716; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271730401717304012:g.71730401C>T-
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser)8291DYSFConflicting interpretations of pathogenicity201834175RCV000647984|RCV001253301; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271730412717304122:g.71730412A>GClinGen:CA1705307C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.316del (p.Leu106fs)8291DYSFLikely pathogenic-1RCV002309628; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717304157173041571730414-
NM_001130987.2(DYSF):c.312C>G (p.Ala104=)8291DYSFLikely benign750834799RCV000978325|RCV001836049|RCV003424513; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271730416717304162:g.71730416C>G-
NM_001130987.2(DYSF):c.315C>T (p.Pro105=)8291DYSFLikely benign1203731908RCV001418904|RCV001836398; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717304197173041971730419-
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)8291DYSFLikely pathogenic-1RCV002306545; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717304247173043371730424-
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)8291DYSFLikely pathogenic-1RCV002308052; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717304257173042671730424-
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)8291DYSFPathogenic746315830RCV000254734|RCV001004980|RCV001089583|RCV001814129|RCV001855002; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGe27173043871730438NC_000002.11:g.71730438C>TClinGen:CA10588346C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.342del (p.Ala116fs)8291DYSFPathogenic/Likely pathogenic886042379RCV000377821|RCV000593550|RCV000532444|RCV002502101|RCV003469224; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 271730446717304462:g.71730446_71730446delClinGen:CA10604146C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)8291DYSFUncertain significance748951363RCV000702215|RCV000733854|RCV001825384|RCV003338741; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327173893771738937NC_000002.11:g.71738937G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)8291DYSFConflicting interpretations of pathogenicity199677396RCV000733873|RCV001038268|RCV001273962|RCV002536504; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327173894171738941NC_000002.11:g.71738941C>T-
NM_001130987.2(DYSF):c.356del (p.Val119fs)8291DYSFPathogenic398123782RCV000178878|RCV000598847|RCV001336577|RCV001382515|RCV002498412; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 27173894771738947NC_000002.11:g.71738947delClinGen:CA222158C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro)8291DYSFUncertain significance-1RCV003340924; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827173895371738953-
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)8291DYSFConflicting interpretations of pathogenicity372573603RCV001567007|RCV001832773|RCV002568441; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070732717389687173896871738968-
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)8291DYSFConflicting interpretations of pathogenicity377056951RCV000242037|RCV000725503|RCV001087267|RCV001276717; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271738969717389692:g.71738969G>AClinGen:CA1705341CN169374 not specified;
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)8291DYSFBenign/Likely benign34603128RCV000080278|RCV000309578|RCV000366553|RCV000711557|RCV001273963|RCV001139688|RCV001527156|RCV001664344; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:271738987717389872:g.71738987C>TClinGen:CA147749CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)8291DYSFConflicting interpretations of pathogenicity773837400RCV000415918|RCV000675087|RCV001844111|RCV002521923; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271738995717389952:g.71738995C>TClinGen:CA1705344C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.408C>T (p.Pro136=)8291DYSFLikely benign1182440042RCV001832203|RCV002546045; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271738999717389992:g.71738999C>T-
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)8291DYSFLikely pathogenic-1RCV002307163; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717389997173900071738999-
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile)8291DYSFUncertain significance766841136RCV000543422|RCV001834793; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827173900471739004NC_000002.11:g.71739004C>TClinGen:CA1705346C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.431del (p.Pro144fs)8291DYSFLikely pathogenic-1RCV002307858|RCV003471326; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717390197173901971739018-
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)8291DYSFConflicting interpretations of pathogenicity139654844RCV000080288|RCV000274365|RCV000331836|RCV000647983|RCV001276718; NMedGen:C3661900|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271739022717390222:g.71739022C>AClinGen:CA222166C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)8291DYSFUncertain significance139654844RCV001140451|RCV001563956|RCV001563958|RCV001563957; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271739022717390222:g.71739022C>T-
NM_001130987.2(DYSF):c.432G>A (p.Pro144=)8291DYSFConflicting interpretations of pathogenicity542176164RCV000387377|RCV001510878|RCV001828264; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271739023717390232:g.71739023G>AClinGen:CA1705349CN169374 not specified;
NM_001130987.2(DYSF):c.460+1G>A8291DYSFLikely pathogenic1278864604RCV000665139|RCV000694014; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271739052717390522:g.71739052G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.460+2T>G8291DYSFBenign750356247RCV000264961|RCV000986769; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271739053717390532:g.71739053T>GClinGen:CA1705352CN169374 not specified;
NM_001130987.2(DYSF):c.461-1G>A8291DYSFUncertain significance1553520795RCV000670889; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740369717403692:g.71740369G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)8291DYSFConflicting interpretations of pathogenicity200970855RCV000301411|RCV001082288|RCV001833344; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740851717408512:g.71740851G>AClinGen:CA1705380C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.561del (p.Gly188fs)8291DYSFLikely pathogenic-1RCV002309171; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717408537174085371740852-
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)8291DYSFConflicting interpretations of pathogenicity151054827RCV000593695|RCV000818446|RCV001276719; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174085771740857NC_000002.11:g.71740857G>AClinGen:CA1705382CN169374 not specified;
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys)8291DYSFUncertain significance763104746RCV001311192|RCV001349515|RCV001830259; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717408697174086971740869-
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)8291DYSFConflicting interpretations of pathogenicity142265349RCV001243658|RCV001835179|RCV003145476; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271740884717408842:g.71740884A>C-
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)8291DYSFConflicting interpretations of pathogenicity34999029RCV000080300|RCV000531528|RCV001273964|RCV001449921|RCV001699034; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:C3661900271740897717408972:g.71740897C>AClinGen:CA147766,UniProtKB:O75923#VAR_024853C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)8291DYSFConflicting interpretations of pathogenicity398123791RCV000080301|RCV001086592|RCV001826719; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740898717408982:g.71740898G>AClinGen:CA222182CN169374 not specified;
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)8291DYSFPathogenic1553521017RCV000672170|RCV001855574|RCV003459635; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271740914717409142:g.71740914C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)8291DYSFConflicting interpretations of pathogenicity143562525RCV000342489|RCV000793369|RCV001273965; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174092071740920NC_000002.11:g.71740920G>AClinGen:CA1705397CN169374 not specified;
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp)8291DYSFUncertain significance768820090RCV000670207; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740924717409242:g.71740924G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.636G>A (p.Pro212=)8291DYSFLikely benign185711021RCV000951647|RCV001276720; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740928717409282:g.71740928G>A-
NM_001130987.2(DYSF):c.640del (p.Ala214fs)8291DYSFLikely pathogenic-1RCV002307343; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717409287174092871740927-
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser)8291DYSFUncertain significance759455142RCV000692486|RCV001830510; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174093271740932NC_000002.11:g.71740932G>T-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)8291DYSFLikely pathogenic-1RCV002309220; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717409377174093871740937-
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu)8291DYSFLikely benign752497222RCV000544711|RCV001829591; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174094571740945NC_000002.11:g.71740945C>TClinGen:CA1705405C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)8291DYSFBenign/Likely benign13407355RCV000080309|RCV000316737|RCV000373692|RCV000546064|RCV001273966|RCV001795107; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271740953717409532:g.71740953C>GClinGen:CA147767,UniProtKB:O75923#VAR_024854C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu)8291DYSFUncertain significance756925596RCV001056590|RCV001273967; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740957717409572:g.71740957C>T-
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)8291DYSFBenign/Likely benign35392229RCV000080311|RCV000281402|RCV000320140|RCV000533998|RCV001273968|RCV001795108; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271740958717409582:g.71740958T>CClinGen:CA147769C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)8291DYSFLikely benign201980470RCV000548747|RCV001829592; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174096971740969NC_000002.11:g.71740969C>TClinGen:CA1705412C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)8291DYSFConflicting interpretations of pathogenicity376293526RCV000247945|RCV000725510|RCV001082722|RCV001273969; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174098271740982NC_000002.11:g.71740982C>TClinGen:CA1705418C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.693G>A (p.Gly231=)8291DYSFLikely benign775544808RCV001502585|RCV001832661; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717409857174098571740985-
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)8291DYSFLikely pathogenic-1RCV002307876; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717409897174098971740989-
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)8291DYSFPathogenic373585652RCV000179424|RCV000711569|RCV000693273|RCV003114244|RCV003474680; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427174099871740998NC_000002.11:g.71740998C>TClinGen:CA222201C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly)8291DYSFUncertain significance373585652RCV001244959|RCV001835219; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271740998717409982:g.71740998C>G-
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln)8291DYSFUncertain significance528386282RCV002225155|RCV003093885; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070732717409997174099971740999-
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)8291DYSFConflicting interpretations of pathogenicity150029218RCV000284809|RCV000376994|RCV000553818|RCV000732976|RCV001276721; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174101071741010NC_000002.11:g.71741010A>GClinGen:CA1705427C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.730del (p.Leu244fs)8291DYSFPathogenic1553521119RCV000627074; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174102271741022NC_000002.11:g.71741022delClinGen:CA658795806C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)8291DYSFLikely pathogenic-1RCV002308195; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717410347174103471741034-
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)8291DYSFConflicting interpretations of pathogenicity147876220RCV000593233|RCV001240944|RCV001834886; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271741038717410382:g.71741038C>TClinGen:CA1705435CN169374 not specified;
NM_001130987.2(DYSF):c.759+1G>C8291DYSFPathogenic398123800RCV000179423|RCV000790678|RCV001386483|RCV002498413|RCV003474681; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427174105271741052NC_000002.11:g.71741052G>CClinGen:CA222207C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.760-17C>T8291DYSFBenign61104194RCV000080324|RCV001527159|RCV001664352|RCV001664351|RCV002055168; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271742736717427362:g.71742736C>TClinGen:CA147775CN169374 not specified;
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC8291DYSFUncertain significance1553521641RCV000666976; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271742746717427472:g.71742746_71742747insTCC-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)8291DYSFPathogenic-1RCV002287923; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717427627174276271742762-
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)8291DYSFConflicting interpretations of pathogenicity150345121RCV000249294|RCV000532146|RCV000733997|RCV001833275; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271742765717427652:g.71742765G>AClinGen:CA1705456C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)8291DYSFLikely pathogenic759065714RCV001264241; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271742771717427712:g.71742771G>T-
NM_001130987.2(DYSF):c.785G>A (p.Arg262His)8291DYSFUncertain significance764849844RCV001247794|RCV001664781|RCV001835309|RCV002491844; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271742778717427782:g.71742778G>A-
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu)8291DYSFConflicting interpretations of pathogenicity143053635RCV000598072|RCV000792953|RCV001535517|RCV003403397; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MO27174278771742787NC_000002.11:g.71742787C>TClinGen:CA1705463CN169374 not specified;
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)8291DYSFPathogenic/Likely pathogenic141497053RCV000179859|RCV000984257|RCV001852238|RCV002265663|RCV003468872; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427174279071742790NC_000002.11:g.71742790G>AClinGen:CA275400,UniProtKB:O75923#VAR_057838C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)8291DYSFConflicting interpretations of pathogenicity750724439RCV000288184|RCV000345514|RCV000363052|RCV000557862|RCV001273970; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271742792717427922:g.71742792G>AClinGen:CA1705466C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)8291DYSFConflicting interpretations of pathogenicity150917600RCV000656845|RCV000706741|RCV001276722|RCV001336579; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271742796717427962:g.71742796A>CClinGen:CA247174C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala)8291DYSFUncertain significance1573658295RCV001004963; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271742843717428432:g.71742843A>G-
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)8291DYSFPathogenic/Likely pathogenic398123802RCV000595897|RCV000790709|RCV001237531|RCV001814050|RCV003317083|RCV003466990; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|27174284471742844NC_000002.11:g.71742844C>TClinGen:CA222210C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.852G>A (p.Thr284=)8291DYSFLikely benign1454893867RCV000975703|RCV001827069; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271742845717428452:g.71742845G>A-
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)8291DYSFPathogenic/Likely pathogenic149827237RCV000595594|RCV001254624|RCV001379021|RCV002502122|RCV003469232; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 271742846717428462:g.71742846C>TClinGen:CA1705479C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)8291DYSFConflicting interpretations of pathogenicity140002194RCV000488274|RCV001142308|RCV002494838|RCV002518899|RCV001828197; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178427174284771742847NC_000002.11:g.71742847G>AClinGen:CA1705480
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg)8291DYSFLikely pathogenic1559053603RCV000757939; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174286871742868NC_000002.11:g.71742868C>G-
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)8291DYSFUncertain significance777785781RCV000648001|RCV001004972|RCV001563954|RCV001563955|RCV001756080; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MedGen:CN5172271742877717428772:g.71742877A>GClinGen:CA1705487C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)8291DYSFPathogenic794727851RCV000179815|RCV000724796; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227174287971742879NC_000002.11:g.71742879G>TClinGen:CA275391C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.888+1G>A8291DYSFPathogenic/Likely pathogenic886044377RCV000597496|RCV000726446|RCV002518120|RCV003469247; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271742882717428822:g.71742882G>AClinGen:CA10606682C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)8291DYSFPathogenic1553522104RCV000670937|RCV001784267|RCV002531269|RCV003465503; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271743311717433122:g.71743311_71743312del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)8291DYSFPathogenic1337417322RCV000792716|RCV001830689; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271743314717433152:g.71743314_71743315del-
NM_001130987.2(DYSF):c.922del (p.Glu308fs)8291DYSFPathogenic1553522133RCV000591372|RCV000726952|RCV001867948|RCV002506415; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 271743340717433402:g.71743340_71743340delClinGen:CA658795807C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)8291DYSFUncertain significance1553522164RCV000673958|RCV000730157|RCV000779333; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271743368717433682:g.71743368T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)8291DYSFUncertain significance372952394RCV000592364|RCV000800886|RCV001273971|RCV002476321; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 27174337171743371NC_000002.11:g.71743371C>TClinGen:CA1705516CN169374 not specified;
NM_001130987.2(DYSF):c.951+1del8291DYSFPathogenic786200898RCV000007071|RCV001236174|RCV003466825; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271743372717433722:g.71743372_71743372delClinGen:CA253921,OMIM:603009.0020C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.951+3_951+4del8291DYSFConflicting interpretations of pathogenicity1573663867RCV001005020|RCV001726413; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271743374717433752:g.71743374_71743375del-
NM_001130987.2(DYSF):c.951+4T>C8291DYSFBenign/Likely benign11903960RCV000080332|RCV000367595|RCV000405200|RCV001137565|RCV001273972|RCV001527164; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271743376717433762:g.71743376T>CClinGen:CA147777CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.952-3C>G8291DYSFUncertain significance-1RCV003337876|RCV003388638; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174411671744116-
NM_001130987.2(DYSF):c.952-2A>G8291DYSFLikely pathogenic1553522730RCV000672471|RCV002531316; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271744117717441172:g.71744117A>G-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)8291DYSFConflicting interpretations of pathogenicity398123807RCV000080333|RCV000696449|RCV001831823|RCV003330426; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015271744120717441202:g.71744120T>AClinGen:CA222220C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)8291DYSFPathogenic/Likely pathogenic1553522751RCV000671651|RCV001244231|RCV003459630; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271744126717441262:g.71744126A>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.960C>T (p.Asp320=)8291DYSFLikely benign771325384RCV001415740|RCV001826221; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717441277174412771744127-
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys)8291DYSFUncertain significance776921154RCV000596505|RCV001245725|RCV001829684; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271744129717441292:g.71744129C>GClinGen:CA1705536CN169374 not specified;
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys)8291DYSFUncertain significance1375948337RCV001304324|RCV001830206; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717441317174413171744131-
NM_001130987.2(DYSF):c.965G>A (p.Arg322His)8291DYSFUncertain significance1386290894RCV001045918|RCV001276723; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271744132717441322:g.71744132G>A-
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)8291DYSFConflicting interpretations of pathogenicity112007817RCV000328096|RCV001273973|RCV001085447; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271744145717441452:g.71744145A>TClinGen:CA1705538CN169374 not specified;
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr)8291DYSFUncertain significance1314586455RCV001057774|RCV001827360; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271744149717441492:g.71744149G>A-
NM_001130987.2(DYSF):c.982del (p.Ala328fs)8291DYSFLikely pathogenic-1RCV003338041; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174414971744149-
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)8291DYSFConflicting interpretations of pathogenicity140809078RCV000726069|RCV001086161|RCV001833377; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271744157717441572:g.71744157C>TClinGen:CA1705539C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)8291DYSFPathogenic121908963RCV000007068|RCV000726614|RCV001388966|RCV003460431; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174415871744158NC_000002.11:g.71744158G>AClinGen:CA253916,UniProtKB:O75923#VAR_057840,OMIM:603009.0017C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)8291DYSFPathogenic/Likely pathogenic121908963RCV000007069|RCV000594920|RCV003159090; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271744158717441582:g.71744158G>TClinGen:CA253918,UniProtKB:O75923#VAR_057841,OMIM:603009.0018C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.994del (p.Glu332fs)8291DYSFLikely pathogenic-1RCV002309698; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717441587174415871744157-
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)8291DYSFConflicting interpretations of pathogenicity1258728780RCV000667928|RCV001067569|RCV002469246; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374271744159717441592:g.71744159G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)8291DYSFPathogenic1573671276RCV000855415|RCV003467534; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271744166717441662:g.71744166_71744166del-
NM_001130987.2(DYSF):c.1002+4A>G8291DYSFPathogenic/Likely pathogenic905322985RCV001072066|RCV001828532|RCV002480447|RCV003462626; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:002271744173717441732:g.71744173A>G-
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly)8291DYSFUncertain significance763604611RCV002018410|RCV002290838; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717473127174731271747312-
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp)8291DYSFUncertain significance755046419RCV001279893|RCV001360490; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271747338717473382:g.71747338C>T-
NM_001130987.2(DYSF):c.1033+1G>A8291DYSFPathogenic201869739RCV000173782|RCV000262780|RCV000801493|RCV001810422|RCV003466991; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427174733971747339NC_000002.11:g.71747339G>AClinGen:CA222224C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1033+2T>C8291DYSFPathogenic/Likely pathogenic886042617RCV000264216|RCV003338500; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174734071747340NC_000002.11:g.71747340T>CClinGen:CA10604480C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1034-20G>A8291DYSFBenign12713756RCV000080336|RCV001527169|RCV001664355|RCV001664356|RCV002055169; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271747899717478992:g.71747899G>AClinGen:CA147778CN169374 not specified;
NM_001130987.2(DYSF):c.1038C>T (p.His346=)8291DYSFBenign/Likely benign36122356RCV000080337|RCV000260697|RCV000318233|RCV000711570|RCV001137567|RCV001274439|RCV001527170; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:271747923717479232:g.71747923C>TClinGen:CA147779CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)8291DYSFConflicting interpretations of pathogenicity745746091RCV000329171|RCV001247468|RCV001833378; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271747924717479242:g.71747924G>AClinGen:CA1705596CN169374 not specified;
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)8291DYSFPathogenic/Likely pathogenic768546511RCV000666238|RCV001235470|RCV003465449; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271747946717479462:g.71747946T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)8291DYSFConflicting interpretations of pathogenicity766891289RCV000336319|RCV001067684|RCV001823131; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271748001717480012:g.71748001C>GClinGen:CA10605994,UniProtKB:O75923#VAR_057843CN169374 not specified;
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)8291DYSFPathogenic/Likely pathogenic766891289RCV000667055|RCV001058931|RCV001784244|RCV003465460; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271748001717480012:g.71748001C>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)8291DYSFLikely pathogenic2152742282RCV002272728; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717480127174801271748012-
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)8291DYSFConflicting interpretations of pathogenicity571559303RCV000153174|RCV000878829|RCV001826823|RCV003422044; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271748019717480192:g.71748019T>CClinGen:CA233928CN169374 not specified;
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu)8291DYSFUncertain significance562361258RCV000648016|RCV001835048; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827174802171748021NC_000002.11:g.71748021G>AClinGen:CA1705611C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)8291DYSFBenign/Likely benign115279465RCV000338286|RCV000544052|RCV001080885|RCV001833316; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271748030717480302:g.71748030C>TClinGen:CA1705614C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)8291DYSFConflicting interpretations of pathogenicity199955501RCV000264345|RCV000356789|RCV000402278|RCV000665200|RCV000726161|RCV001080526|RCV001449952; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:271748034717480342:g.71748034T>GClinGen:CA1705617CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1149+1G>A8291DYSFPathogenic/Likely pathogenic398123763RCV000174082|RCV000711544|RCV000763501|RCV000700616|RCV003466976; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,O27174803571748035NC_000002.11:g.71748035G>AClinGen:CA222120C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1149+3G>C8291DYSFPathogenic1573704236RCV000993851; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271748037717480372:g.71748037G>C-
NM_001130987.2(DYSF):c.1149+7A>T8291DYSFLikely benign771741504RCV000243063|RCV000665839|RCV000934203; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327174804171748041NC_000002.11:g.71748041A>TClinGen:CA10586830C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)8291DYSFLikely pathogenic-1RCV003337855; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827175335671753356-
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)8291DYSFLikely pathogenic-1RCV002310010; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717533717175337171753371-
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys)8291DYSFUncertain significance781380886RCV001232729|RCV001828855; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271753397717533972:g.71753397C>A-
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)8291DYSFConflicting interpretations of pathogenicity375071568RCV001948729|RCV002492023; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784002717534057175340571753405-
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)8291DYSFConflicting interpretations of pathogenicity150724610RCV000080227|RCV000513692|RCV000670929|RCV001083703; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271753416717534162:g.71753416G>CClinGen:CA147717,UniProtKB:O75923#VAR_057844C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)8291DYSFPathogenic/Likely pathogenic758180890RCV000255632|RCV000509478|RCV000763502|RCV000817143|RCV003463719; NMedGen:C3661900||MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20727175342571753425NC_000002.11:g.71753425C>TClinGen:CA1705654C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)8291DYSFConflicting interpretations of pathogenicity746610724RCV000264809|RCV001241483|RCV001828209|RCV002521928; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271753429717534292:g.71753429G>AClinGen:CA1705655CN169374 not specified;
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)8291DYSFLikely pathogenic-1RCV002308470; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717534347175343471753434-
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)8291DYSFConflicting interpretations of pathogenicity527435707RCV000726094|RCV001139795|RCV001833380|RCV003155152; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374271753455717534552:g.71753455C>TClinGen:CA1705660CN169374 not specified;
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)8291DYSFLikely pathogenic779969348RCV000671395; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271753455717534562:g.71753455_71753456insG-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)8291DYSFConflicting interpretations of pathogenicity776036392RCV000647995|RCV001835045|RCV003162956; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271753456717534562:g.71753456G>AClinGen:CA1705662C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1263_1276+1dup8291DYSFPathogenic863225019RCV000201130; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271753462717534632:g.71753462_71753463insGGACTTGCCGCAGAGClinGen:CA279095C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)8291DYSFPathogenic/Likely pathogenic886042389RCV000292426|RCV000725084|RCV001070518|RCV003469225|RCV003317179; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:1027175346471753464NC_000002.11:g.71753464G>AClinGen:CA10604166C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1267_1276+4dup8291DYSFConflicting interpretations of pathogenicity1573744795RCV000594474|RCV003338675; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271753465717534662:g.71753465_71753466insCTTGCCGCAGAGTG-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu)8291DYSFLikely benign1268717670RCV001279894|RCV002541723; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271753466717534662:g.71753466C>G-
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)8291DYSFLikely pathogenic2087900330RCV001264242; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271753468717534682:g.71753468T>A-
NM_001130987.2(DYSF):c.1274_1276+4dup8291DYSFConflicting interpretations of pathogenicity768425085RCV000592945|RCV000726448|RCV003465331; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271753471717534722:g.71753471_71753472insGCAGAGT-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg)8291DYSFUncertain significance767800266RCV001279895; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271753471717534712:g.71753471C>G-
NM_001130987.2(DYSF):c.1276+5G>A8291DYSFPathogenic/Likely pathogenic766433603RCV000675165|RCV000726343|RCV001048102|RCV003463775; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271753481717534812:g.71753481G>AClinGen:CA1705673C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1276+11C>T8291DYSFBenign/Likely benign35982795RCV000080228|RCV000286315|RCV000324901|RCV001139796|RCV001664334|RCV001664333|RCV001664332; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:60271753487717534872:g.71753487C>TClinGen:CA147719CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1277-48A>G8291DYSFBenign4852800RCV000251347|RCV000839069|RCV001527207|RCV001660232|RCV001660233; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827175538071755380NC_000002.11:g.71755380A>GClinGen:CA1705689CN169374 not specified;
NM_001130987.2(DYSF):c.1277-2A>C8291DYSFLikely pathogenic1553531682RCV000670531; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271755426717554262:g.71755426A>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val)8291DYSFUncertain significance925623903RCV001051032|RCV001836089|RCV003145297; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271755437717554372:g.71755437C>T-
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)8291DYSFConflicting interpretations of pathogenicity148697028RCV000293655|RCV000350865|RCV000406958|RCV000543795|RCV001731560|RCV001828203; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271755462717554622:g.71755462C>TClinGen:CA1705699C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del)8291DYSFUncertain significance1553531818RCV000667544|RCV003144470; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271755481717554832:g.71755481_71755483del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)8291DYSFPathogenic766936914RCV000666793|RCV001855467|RCV003465454; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271755498717554982:g.71755498_71755498del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr)8291DYSFConflicting interpretations of pathogenicity371593605RCV000592160|RCV000807941|RCV001276724; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827175551571755515NC_000002.11:g.71755515G>CClinGen:CA1705707CN169374 not specified;
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)8291DYSFConflicting interpretations of pathogenicity146588926RCV000297254|RCV000392981|RCV000705827|RCV001828331; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827175552171755521NC_000002.11:g.71755521C>TClinGen:CA1705708C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1380+2T>C8291DYSFPathogenic398123765RCV000080229|RCV000174526|RCV003466978; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827175553371755533NC_000002.11:g.71755533T>CClinGen:CA222122C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1380+6G>C8291DYSFConflicting interpretations of pathogenicity75796187RCV000116925|RCV000336160|RCV000403483|RCV000546998|RCV001084736|RCV001274440; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271755537717555372:g.71755537G>CClinGen:CA152660C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1381-2A>G8291DYSFPathogenic786200897RCV000007070; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762149717621492:g.71762149A>GClinGen:CA253920,OMIM:603009.0019C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)8291DYSFConflicting interpretations of pathogenicity376358025RCV000731709|RCV000802202|RCV001830617|RCV002535234; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327176217671762176NC_000002.11:g.71762176C>T-
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)8291DYSFConflicting interpretations of pathogenicity150093305RCV000259934|RCV000725584|RCV001274441|RCV001089239; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271762177717621772:g.71762177G>AClinGen:CA1705732C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)8291DYSFUncertain significance1131691788RCV000726808|RCV001834602; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762181717621812:g.71762181A>GClinGen:CA347215641CN169374 not specified;
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)8291DYSFUncertain significance398123766RCV001563947|RCV001563945|RCV001563946; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717621837176218371762183-
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)8291DYSFLikely pathogenic2089169741RCV001264243; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762196717621962:g.71762196C>T-
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)8291DYSFConflicting interpretations of pathogenicity794727119RCV000174707|RCV000674572|RCV003468855; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271762209717622092:g.71762209T>CClinGen:CA240279C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1449+1G>A8291DYSFPathogenic1553535902RCV000670711; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762220717622202:g.71762220G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1449+3G>A8291DYSFConflicting interpretations of pathogenicity764771218RCV000874517|RCV001276727|RCV003145218; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271762222717622222:g.71762222G>A-
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)8291DYSFPathogenic202044973RCV000080232|RCV000174882|RCV000698361|RCV003466979; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271762412717624122:g.71762412C>AClinGen:CA222125C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)8291DYSFConflicting interpretations of pathogenicity61740288RCV000080233|RCV000550203|RCV000710125|RCV001835673; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762413717624132:g.71762413G>AClinGen:CA147721C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)8291DYSFPathogenic1236367931RCV000665852|RCV001053757|RCV003465444; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271762413717624142:g.71762413_71762414insA-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)8291DYSFConflicting interpretations of pathogenicity199879861RCV000269469|RCV000330051|RCV000361672|RCV000525084|RCV001274442; NMedGen:CN239352|MedGen:CN517202|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762429717624292:g.71762429G>AClinGen:CA1705768C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)8291DYSFPathogenic398123767RCV000174883|RCV000599321|RCV002515771|RCV003466980; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827176243571762436NC_000002.11:g.71762436dupClinGen:CA222127C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val)8291DYSFUncertain significance1573811118RCV001004978; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271762438717624382:g.71762438A>T-
NM_001130987.2(DYSF):c.1493+2dup8291DYSFUncertain significance753885022RCV000656701|RCV003144459; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271762442717624432:g.71762442_71762443insT-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1493+1G>A8291DYSFLikely pathogenic1553536007RCV000670424|RCV001061856; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271762442717624422:g.71762442G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1494-1G>A8291DYSFPathogenic/Likely pathogenic398123768RCV000175043|RCV000790756; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227176628671766286NC_000002.11:g.71766286G>AClinGen:CA222128C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)8291DYSFConflicting interpretations of pathogenicity185119682RCV000335981|RCV000535143|RCV001274443|RCV002480026; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 271766291717662912:g.71766291C>TClinGen:CA1705795C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His)8291DYSFUncertain significance775370021RCV001322090|RCV001830971|RCV003399102; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN1693742717662927176629271766292-
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=)8291DYSFBenign34387018RCV000116926|RCV000711547|RCV001083489|RCV001274444; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271766311717663112:g.71766311C>TClinGen:CA152661C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)8291DYSFConflicting interpretations of pathogenicity34387018RCV000335708|RCV001084714|RCV001828273; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271766311717663112:g.71766311C>AClinGen:CA1705798C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met)8291DYSFLikely benign761279290RCV001315541|RCV001830294; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717663127176631271766312-
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)8291DYSFLikely pathogenic-1RCV002309407; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717663237176632471766322-
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)8291DYSFPathogenic/Likely pathogenic139258703RCV000669615|RCV002531232; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271766337717663372:g.71766337C>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu)8291DYSFLikely benign139258703RCV001235263|RCV001828870; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271766337717663372:g.71766337C>T-
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)8291DYSFUncertain significance765472161RCV000816717|RCV001835976|RCV003145192; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271766342717663422:g.71766342A>T-
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)8291DYSFPathogenic1456182703RCV000761538|RCV001381503; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327176635371766353NC_000002.11:g.71766353del-
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)8291DYSFPathogenic1559109621RCV000761509; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827176635471766354NC_000002.11:g.71766355del-
NM_001130987.2(DYSF):c.1576+1del8291DYSFPathogenic/Likely pathogenic1553537332RCV000668301|RCV002532070|RCV003459595; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271766369717663692:g.71766369_71766369del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1576+18T>C8291DYSFConflicting interpretations of pathogenicity768373625RCV000668257|RCV002060818; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271766387717663872:g.71766387T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1577-1699C>T8291DYSFConflicting interpretations of pathogenicity183489578RCV000349882|RCV001087804|RCV001276728; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271776472717764722:g.71776472C>TClinGen:CA1705835CN169374 not specified;
NM_003494.4(DYSF):c.1481-1G>A8291DYSFPathogenic398123770RCV000175175|RCV000711548|RCV002477229|RCV002514411|RCV003460748; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,O27177647971776479NC_000002.11:g.71776479G>AClinGen:CA222130C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser)8291DYSFUncertain significance368577086RCV000648009|RCV001835047; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827177648571776485NC_000002.11:g.71776485C>TClinGen:CA1705840C2931687 Dysferlinopathy;
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala)8291DYSFUncertain significance368577086RCV000810738|RCV001830768; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271776485717764852:g.71776485C>G-
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val)8291DYSFUncertain significance1057524492RCV000435855|RCV001833569; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271776492717764922:g.71776492G>TClinGen:CA16604360CN169374 not specified;
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)8291DYSFConflicting interpretations of pathogenicity144931729RCV000706854|RCV000711549|RCV001271777|RCV002534470; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271776507717765072:g.71776507C>T-C2931687 Dysferlinopathy;
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)8291DYSFLikely pathogenic1553541329RCV000668154; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271776520717765202:g.71776520_71776521insA-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1577-1646C>T8291DYSFUncertain significance763227235RCV001340968|RCV001831067; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717765257177652571776525-
NM_001130987.2(DYSF):c.1577-25T>C8291DYSFUncertain significance769185336RCV001279896; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778146717781462:g.71778146T>C-
NM_001130987.2(DYSF):c.1577-2A>G8291DYSFPathogenic1553542142RCV000667216; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778169717781692:g.71778169A>G-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)8291DYSFPathogenic/Likely pathogenic-1RCV002307989|RCV003102298; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070732717781907177819071778189-
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg)8291DYSFUncertain significance1573929182RCV001004943; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778209717782092:g.71778209T>C-
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)8291DYSFLikely pathogenic2090909751RCV001264244; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778211717782112:g.71778211C>A-
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)8291DYSFConflicting interpretations of pathogenicity777489323RCV000647986|RCV000765696|RCV001662702|RCV001835043; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MedGen:CN517227177821271778212NC_000002.11:g.71778212T>CClinGen:CA1705873C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)8291DYSFBenign/Likely benign139495331RCV000175305|RCV000548539|RCV001704255|RCV001826883; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778220717782202:g.71778220C>TClinGen:CA201384C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)8291DYSFUncertain significance559177313RCV001213616|RCV001279897|RCV001563905|RCV001563906; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400271778233717782332:g.71778233C>T-
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr)8291DYSFLikely benign749866053RCV001245099|RCV001835223; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778260717782602:g.71778260C>A-
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)8291DYSFLikely pathogenic-1RCV002308066; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717782637177826371778262-
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)8291DYSFConflicting interpretations of pathogenicity541663451RCV000648014|RCV001829805|RCV003243237; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271778270717782702:g.71778270A>GClinGen:CA1705883C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=)8291DYSFLikely benign374809515RCV000945624|RCV001832188; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778277717782772:g.71778277C>T-
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr)8291DYSFUncertain significance561875696RCV000519891|RCV001829497|RCV002525186; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271778285717782852:g.71778285A>CClinGen:CA49793005CN169374 not specified;
NM_001130987.2(DYSF):c.1693-6T>A8291DYSFPathogenic886039573RCV000254712|RCV000597734|RCV001381504|RCV003463720; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271778731717787312:g.71778731T>AClinGen:CA10588347C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)8291DYSFConflicting interpretations of pathogenicity771062534RCV001364685|RCV001826032|RCV003145621; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C36619002717787467177874671778746-
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)8291DYSFConflicting interpretations of pathogenicity767415886RCV000389310|RCV000726337|RCV001271778|RCV001850449; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271778755717787552:g.71778755C>TClinGen:CA1705911CN169374 not specified;
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His)8291DYSFUncertain significance1368149283RCV000727492|RCV001232730|RCV001829509; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778756717787562:g.71778756G>AClinGen:CA347217588CN169374 not specified;
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)8291DYSFPathogenic377735262RCV000080241|RCV000391157|RCV000984167|RCV001384924|RCV003460749; NMedGen:C3661900|MedGen:CN239317|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827177876171778761NC_000002.11:g.71778761C>TClinGen:CA222133,UniProtKB:O75923#VAR_024859CN239317 DYSF-Related Disorders;
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)8291DYSFUncertain significance755829878RCV000844895|RCV001326184|RCV001825702; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0271778762717787622:g.71778762G>A-
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)8291DYSFPathogenic200916654RCV000656079|RCV001089586|RCV001220606; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271778765717787652:g.71778765T>CClinGen:CA1705913C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)8291DYSFPathogenic/Likely pathogenic886042633RCV000259897|RCV001727667|RCV001859579; NMedGen:CN517202|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207027177880671778806NC_000002.11:g.71778806C>TClinGen:CA10604502C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)8291DYSFConflicting interpretations of pathogenicity376932915RCV000815952|RCV001664434|RCV001830788; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778818717788182:g.71778818G>T-
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)8291DYSFBenign/Likely benign35984374RCV000080242|RCV000542679|RCV001274445; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778829717788292:g.71778829G>AClinGen:CA147724C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu)8291DYSFUncertain significance773168782RCV000802253|RCV001830730; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778835717788352:g.71778835C>G-
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=)8291DYSFUncertain significance2090960824RCV001279898; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778841717788412:g.71778841C>T-
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)8291DYSFConflicting interpretations of pathogenicity149386446RCV000598052|RCV000648023|RCV001274446|RCV001526744; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271778842717788422:g.71778842C>TClinGen:CA1705929C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)8291DYSFConflicting interpretations of pathogenicity546679270RCV000306031|RCV000403176|RCV000665544|RCV000727415|RCV001080579; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271778843717788432:g.71778843G>TClinGen:CA1705931CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln)8291DYSFLikely benign546679270RCV001068741|RCV001271779; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271778843717788432:g.71778843G>A-
NM_001130987.2(DYSF):c.1807-24C>G8291DYSFBenign2303595RCV000248998|RCV000836878|RCV001527211|RCV001660235|RCV001660234; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:17840027178011771780117NC_000002.11:g.71780117C>GClinGen:CA1705954CN169374 not specified;
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)8291DYSFPathogenic1553543506RCV000517890|RCV001382905|RCV001834663; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780146717801462:g.71780146C>GClinGen:CA347218306CN517202 not provided;
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys)8291DYSFUncertain significance745472489RCV000176066|RCV001248203|RCV001832007|RCV002516700; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271780156717801562:g.71780156C>TClinGen:CA241936CN169374 not specified;
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val)8291DYSFUncertain significance146261069RCV000080243|RCV000552883|RCV000725539|RCV001274447; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780175717801752:g.71780175C>TClinGen:CA222134C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)8291DYSFLikely pathogenic-1RCV002306573; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717801857178018671780184-
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile)8291DYSFUncertain significance767805308RCV000801289|RCV001825582; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780193717801932:g.71780193C>T-
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)8291DYSFBenign2303596RCV000080244|RCV000302229|RCV000357010|RCV000711550|RCV001274448|RCV001137671|RCV001527212|RCV001664337; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:271780215717802152:g.71780215T>CClinGen:CA147726CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)8291DYSFPathogenic746873768RCV000201076|RCV000255415|RCV000531181|RCV000763503|RCV003468914; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780222717802222:g.71780222C>TClinGen:CA277606C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)8291DYSFBenign/Likely benign567956595RCV001563801|RCV001271780|RCV000946075|RCV001563743; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271780239717802392:g.71780239C>T-
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)8291DYSFConflicting interpretations of pathogenicity201049092RCV000176067|RCV000675177|RCV001852168|RCV003235095|RCV003468857; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4271780240717802402:g.71780240G>AClinGen:CA241938,UniProtKB:O75923#VAR_057851C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)8291DYSFPathogenic/Likely pathogenic201049092RCV000201138|RCV000726170; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271780240717802402:g.71780240G>CClinGen:CA277611,UniProtKB:O75923#VAR_057851C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)8291DYSFBenign/Likely benign35721373RCV000080245|RCV000262188|RCV000317599|RCV000541345|RCV001274449|RCV001527213|RCV001664338|RCV001795099; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271780248717802482:g.71780248C>TClinGen:CA147728C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)8291DYSFPathogenic/Likely pathogenic886043900RCV000597376|RCV000726165|RCV001214514|RCV003469244; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271780249717802492:g.71780249G>AClinGen:CA10606091,UniProtKB:O75923#VAR_057852C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)8291DYSFConflicting interpretations of pathogenicity769518034RCV000277756|RCV000372276|RCV000871697|RCV001271781; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780251717802512:g.71780251G>AClinGen:CA1705978CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)8291DYSFConflicting interpretations of pathogenicity550180529RCV000930776|RCV001271782; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780260717802602:g.71780260C>T-
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)8291DYSFPathogenic121908960RCV000007064; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780261717802612:g.71780261G>TClinGen:CA253909,UniProtKB:O75923#VAR_057853,OMIM:603009.0013C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile)8291DYSFUncertain significance1299723799RCV001232486|RCV001834016|RCV003442795; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271780266717802662:g.71780266G>A-
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)8291DYSFConflicting interpretations of pathogenicity115849497RCV000080246|RCV000332709|RCV000386778|RCV000544595|RCV001274450; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780278717802782:g.71780278G>AClinGen:CA147730C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)8291DYSFConflicting interpretations of pathogenicity115849497RCV000382853|RCV000725847|RCV001078656|RCV001271783; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780278717802782:g.71780278G>TClinGen:CA1705986CN169374 not specified;
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=)8291DYSFUncertain significance574076669RCV001241069|RCV001834138; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780317717803172:g.71780317C>T-
NM_001130987.2(DYSF):c.1985-4C>G8291DYSFConflicting interpretations of pathogenicity374489513RCV000176196|RCV001080312|RCV001271784; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780933717809332:g.71780933C>GClinGen:CA242073CN169374 not specified;
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)8291DYSFLikely pathogenic-1RCV002308262; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717809477178094771780947-
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)8291DYSFLikely pathogenic2091142154RCV001264245; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780961717809612:g.71780961G>A-
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)8291DYSFConflicting interpretations of pathogenicity538170367RCV000348203|RCV001466761|RCV001823130; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780963717809632:g.71780963G>AClinGen:CA1706026CN169374 not specified;
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)8291DYSFConflicting interpretations of pathogenicity199565036RCV000246296|RCV000665737|RCV000966654; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271780968717809682:g.71780968C>TClinGen:CA1706027C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)8291DYSFConflicting interpretations of pathogenicity139754493RCV000292466|RCV000328757|RCV000487642|RCV001085988|RCV001563949|RCV001563948|RCV001563950|RCV003416078; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271780972717809722:g.71780972A>GClinGen:CA242074C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)8291DYSFConflicting interpretations of pathogenicity138111360RCV000726558|RCV001086499|RCV001835773; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780986717809862:g.71780986G>AClinGen:CA1706029CN169374 not specified;
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr)8291DYSFUncertain significance765027098RCV000277587|RCV000648018|RCV001274451|RCV002519198; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271780990717809902:g.71780990T>AClinGen:CA1706030C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)8291DYSFLikely pathogenic2091144091RCV001264246; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271780991717809912:g.71780991C>G-
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)8291DYSFConflicting interpretations of pathogenicity367901920RCV001244179|RCV001760277|RCV001829922; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271781020717810202:g.71781020A>T-
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)8291DYSFConflicting interpretations of pathogenicity749488054RCV000807551|RCV001825603|RCV003145159; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271781057717810572:g.71781057G>A-
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)8291DYSFConflicting interpretations of pathogenicity74423119RCV000251223|RCV000513999|RCV001081560|RCV001828138|RCV002519917; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271781059717810592:g.71781059C>GClinGen:CA1706042C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)8291DYSFConflicting interpretations of pathogenicity145007061RCV000725234|RCV001087666|RCV001271785; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271783132717831322:g.71783132C>TClinGen:CA1706065CN169374 not specified;
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)8291DYSFConflicting interpretations of pathogenicity201239189RCV000392895|RCV001088299|RCV001271786|RCV001563802|RCV001563803; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784271783133717831332:g.71783133G>AClinGen:CA1706066CN169374 not specified;
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)8291DYSFConflicting interpretations of pathogenicity775539496RCV000304844|RCV000726444|RCV000804560|RCV001279899; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827178314471783144NC_000002.11:g.71783144C>TClinGen:CA1706069CN169374 not specified;
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=)8291DYSFLikely benign762651388RCV000874598|RCV001271787; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271783145717831452:g.71783145G>A-
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)8291DYSFConflicting interpretations of pathogenicity182450244RCV000547561|RCV000734858|RCV001834789|RCV002506358; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; 271783152717831522:g.71783152G>AClinGen:CA1706074C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)8291DYSFConflicting interpretations of pathogenicity570860273RCV001563902|RCV001563903|RCV001563944|RCV002488382|RCV002573185|RCV003146217; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MO2717831777178317771783177-
NM_001130987.2(DYSF):c.2216+6G>C8291DYSFUncertain significance747059895RCV000176294|RCV001245187|RCV001835704; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271783207717832072:g.71783207G>CClinGen:CA242200CN169374 not specified;
Single allele8291DYSFLikely pathogenic-1RCV000786062; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827178862271897384NC_000007.13:g.30999250_31006943delinsAGAGATCCA-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_001130987.2(DYSF):c.2217-2A>G8291DYSFPathogenic/Likely pathogenic747289205RCV000326270|RCV000726460|RCV001859714; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271788880717888802:g.71788880A>GClinGen:CA1706103C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2217-1G>T8291DYSFPathogenic886044379RCV000382100|RCV001172377; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788881717888812:g.71788881G>TClinGen:CA10606685C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)8291DYSFLikely pathogenic-1RCV002306701; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717888967178889771788895-
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys)8291DYSFLikely benign369209261RCV000694346|RCV001835920; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788904717889042:g.71788904G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)8291DYSFLikely pathogenic-1RCV002309053; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717889047178890471788904-
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)8291DYSFLikely pathogenic-1RCV002310516; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717889177178891771788916-
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)8291DYSFConflicting interpretations of pathogenicity202123283RCV000300931|RCV000405461|RCV000726455|RCV001082501|RCV001271788; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788922717889222:g.71788922C>AClinGen:CA1706110C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr)8291DYSFUncertain significance376652699RCV001235528|RCV001834046; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788928717889282:g.71788928G>T-
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)8291DYSFLikely pathogenic-1RCV002309584; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717889387178893971788937-
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys)8291DYSFUncertain significance181551438RCV000725712|RCV001221509|RCV001274452; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788949717889492:g.71788949C>TClinGen:CA1706115CN169374 not specified;
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His)8291DYSFUncertain significance759015457RCV001065935|RCV001274453; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788950717889502:g.71788950G>A-
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg)8291DYSFUncertain significance372475742RCV000647997|RCV001271789|RCV003144429; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227178899571788995NC_000002.11:g.71788995A>GClinGen:CA1706123C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)8291DYSFConflicting interpretations of pathogenicity116204385RCV000153175|RCV000355712|RCV000405119|RCV000876464|RCV001704108|RCV001831950; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271788999717889992:g.71788999C>TClinGen:CA179985CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)8291DYSFConflicting interpretations of pathogenicity138654170RCV000176395|RCV000765697|RCV001085145|RCV001271790; NMedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271789000717890002:g.71789000G>AClinGen:CA242326C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)8291DYSFLikely pathogenic-1RCV002307145; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717890067178900971789005-
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)8291DYSFConflicting interpretations of pathogenicity553605812RCV000384090|RCV000726140|RCV001271791|RCV001396652; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271789035717890352:g.71789035G>AClinGen:CA10606035CN169374 not specified;
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)8291DYSFUncertain significance143568054RCV000176394|RCV000297176|RCV000370605|RCV001140667|RCV001835705; NMedGen:CN517202|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271789051717890512:g.71789051C>TClinGen:CA242324CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)8291DYSFConflicting interpretations of pathogenicity185891286RCV000876867|RCV001271792|RCV001772165; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271789052717890522:g.71789052G>A-
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys)8291DYSFUncertain significance377196032RCV001246286|RCV001829984; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271789057717890572:g.71789057C>T-
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)8291DYSFConflicting interpretations of pathogenicity763456750RCV000550765|RCV001274454|RCV001558981; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227178905871789058NC_000002.11:g.71789058G>AClinGen:CA1706135C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2409+1G>A8291DYSFPathogenic/Likely pathogenic151317754RCV000261362|RCV000349131|RCV001379694|RCV003463745; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271789075717890752:g.71789075G>AClinGen:CA10604289C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)8291DYSFPathogenic121908956RCV000007055|RCV000007056|RCV000790785|RCV000807968; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327179120471791204NC_000002.11:g.71791204C>GClinGen:CA222139,UniProtKB:O75923#VAR_012308,OMIM:603009.0007C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=)8291DYSFLikely benign773468156RCV000914116|RCV001825834; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791211717912112:g.71791211C>T-
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)8291DYSFConflicting interpretations of pathogenicity371609233RCV001140670|RCV001541058|RCV001828567; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791212717912122:g.71791212G>A-
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup)8291DYSFUncertain significance1326126736RCV000671036; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791236717912372:g.71791236_71791237insAGCGTGTGGCATACC-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys)8291DYSFUncertain significance754179180RCV001338756|RCV001830405; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717912397179123971791239-
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)8291DYSFUncertain significance759675023RCV000269566|RCV000666599|RCV000706501|RCV001804996; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374271791240717912402:g.71791240G>AClinGen:CA1706181C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)8291DYSFPathogenic-1RCV002287921; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717912507179125071791250-
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter)8291DYSFPathogenic1574016452RCV000853624; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791251717912512:g.71791251C>T-
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)8291DYSFConflicting interpretations of pathogenicity35297901RCV000271598|RCV000356959|RCV000366269|RCV000695150|RCV001271793|RCV002487214; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271791255717912552:g.71791255G>AClinGen:CA1706183C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser)8291DYSFUncertain significance146819460RCV000592048|RCV001244433|RCV001834903|RCV003258884; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271791260717912602:g.71791260C>TClinGen:CA1706184CN169374 not specified;
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr)8291DYSFUncertain significance146819460RCV001035392|RCV001832372|RCV003145257; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271791260717912602:g.71791260C>A-
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)8291DYSFConflicting interpretations of pathogenicity562925562RCV000822206|RCV001274455|RCV003353063; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271791263717912632:g.71791263G>A-
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)8291DYSFConflicting interpretations of pathogenicity749002214RCV000690013|RCV000997160|RCV001825341; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791284717912842:g.71791284C>T-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)8291DYSFConflicting interpretations of pathogenicity371841411RCV000523223|RCV001829489|RCV002527605; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271791287717912872:g.71791287C>TClinGen:CA1706191CN169374 not specified;
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)8291DYSFConflicting interpretations of pathogenicity748636047RCV000596941|RCV000817716|RCV001829634; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179128871791288NC_000002.11:g.71791288G>AClinGen:CA1706192CN169374 not specified;
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)8291DYSFLikely pathogenic-1RCV002309060; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717913087179130871791308-
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys)8291DYSFUncertain significance199543257RCV000550468|RCV001834790; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791326717913262:g.71791326C>AClinGen:CA347211807C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)8291DYSFPathogenic199543257RCV000667000; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791326717913262:g.71791326C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)8291DYSFBenign/Likely benign34671418RCV000080253|RCV000326704|RCV000381491|RCV000528879|RCV001274456|RCV001795100; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271791332717913322:g.71791332A>GClinGen:CA147734,UniProtKB:O75923#VAR_049055C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)8291DYSFLikely pathogenic2091951931RCV001263671; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271791341717913412:g.71791341A>T-
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)8291DYSFPathogenic/Likely pathogenic2092204417RCV001207233|RCV001776143|RCV001263672; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2271795083717950832:g.71795083T>A-
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu)8291DYSFUncertain significance759412160RCV000350288|RCV001241954|RCV001828261; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795085717950852:g.71795085C>TClinGen:CA1706225CN169374 not specified;
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)8291DYSFLikely pathogenic2092205152RCV001263673; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795093717950932:g.71795093A>T-
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=)8291DYSFBenign551942312RCV000795621|RCV001830707; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795104717951042:g.71795104C>T-
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)8291DYSFUncertain significance143632564RCV000286988|RCV000323409|RCV001240549|RCV001828332|RCV003144230|RCV003258773; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MeSH:D030342,MedGen:C0950123271795105717951052:g.71795105G>AClinGen:CA1706230CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln)8291DYSFUncertain significance781777155RCV000648003|RCV001531321|RCV001835046; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795109717951092:g.71795109G>AClinGen:CA1706232C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp)8291DYSFUncertain significance749542779RCV000307107|RCV001204777|RCV001828244|RCV002518991; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271795126717951262:g.71795126C>TClinGen:CA1706236CN169374 not specified;
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)8291DYSFConflicting interpretations of pathogenicity191337920RCV000251826|RCV000726086|RCV001086817|RCV001271794; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179513771795137NC_000002.11:g.71795137G>AClinGen:CA1706238C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=)8291DYSFLikely benign1465061221RCV001277412|RCV002541660; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271795146717951462:g.71795146G>T-
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)8291DYSFLikely pathogenic2092208616RCV001263674; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795151717951512:g.71795151C>A-
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)8291DYSFBenign2288355RCV000080254|RCV000283608|RCV000378035|RCV000711552|RCV001142549|RCV001274457|RCV001527216|RCV001664339; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:271795152717951522:g.71795152A>TClinGen:CA147736CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)8291DYSFBenign/Likely benign35884879RCV000153176|RCV000710127|RCV001084336|RCV001826824; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795157717951572:g.71795157A>CClinGen:CA179987C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu)8291DYSFUncertain significance146153109RCV001231055|RCV001834003; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795158717951582:g.71795158T>G-
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)8291DYSFLikely pathogenic2092209337RCV001263675; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795159717951592:g.71795159G>T-
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)8291DYSFLikely pathogenic-1RCV002310376; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717951597179516071795158-
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)8291DYSFLikely pathogenic2092210085RCV001263676; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795165717951652:g.71795165G>T-
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)8291DYSFConflicting interpretations of pathogenicity200049922RCV000338669|RCV000393077|RCV000531939|RCV000416052|RCV001271795; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795183717951832:g.71795183G>AClinGen:CA1706245C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)8291DYSFLikely pathogenic2092211777RCV001263677; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795189717951892:g.71795189A>T-
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=)8291DYSFLikely benign750999022RCV001065777|RCV001833638; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795212717952122:g.71795212C>T-
NM_001130987.2(DYSF):c.2697+1G>A8291DYSFPathogenic/Likely pathogenic140108514RCV000080255|RCV000176550|RCV000233433|RCV000697172|RCV000763504|RCV003415848; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784271795213717952132:g.71795213G>AClinGen:CA222141,ClinVar:424775,ClinVar:424829C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2697+5G>A8291DYSFConflicting interpretations of pathogenicity2092213253RCV002042107|RCV003339763; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717952177179521771795217-
NM_001130987.2(DYSF):c.2698-2A>G8291DYSFPathogenic1420930684RCV000672212; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795300717953002:g.71795300A>G-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)8291DYSFConflicting interpretations of pathogenicity149979662RCV000593326|RCV001085310|RCV001834883; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795304717953042:g.71795304T>CClinGen:CA1706267CN169374 not specified;
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=)8291DYSFConflicting interpretations of pathogenicity398123775RCV000080256|RCV000668890|RCV002055161; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271795310717953102:g.71795310C>TClinGen:CA222142C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys)8291DYSFUncertain significance770997582RCV000725888|RCV000821051|RCV001828232; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179531171795311NC_000002.11:g.71795311G>AClinGen:CA1706268CN169374 not specified;
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)8291DYSFConflicting interpretations of pathogenicity769739410RCV000711553|RCV001048828|RCV001830577|RCV002532913|RCV003330916; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123|MedGen:CN16937427179534871795348NC_000002.11:g.71795348C>T-
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=)8291DYSFLikely benign775337850RCV001271796|RCV001398887; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271795349717953492:g.71795349G>A-
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile)8291DYSFUncertain significance2092226553RCV001052338|RCV001832482|RCV003145298; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271795377717953772:g.71795377G>A-
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del)8291DYSFUncertain significance1553553762RCV000672402; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795378717953892:g.71795378_71795389del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)8291DYSFLikely pathogenic-1RCV002308036; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717953867179538671795386-
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn)8291DYSFUncertain significance766900434RCV001371504|RCV001831302; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717953907179539071795390-
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His)8291DYSFUncertain significance765601966RCV000277280|RCV001038058|RCV001833400; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795414717954142:g.71795414G>AClinGen:CA1706287CN169374 not specified;
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)8291DYSFUncertain significance535323489RCV000670234; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795420717954202:g.71795420C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)8291DYSFConflicting interpretations of pathogenicity373328706RCV000726568|RCV001084706|RCV001271797; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795424717954242:g.71795424C>TClinGen:CA1706289CN169374 not specified;
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)8291DYSFUncertain significance747089235RCV000711555|RCV001825419; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179542571795425NC_000002.11:g.71795425G>A-
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser)8291DYSFUncertain significance-1RCV002290071|RCV003097783|RCV003146534; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN5172022717954317179543171795431-
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)8291DYSFPathogenic727503909RCV000007072|RCV000311139|RCV000546602|RCV000599552; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900271795435717954352:g.71795435_71795435delClinGen:CA233930,OMIM:603009.0021C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)8291DYSFLikely pathogenic-1RCV002310059; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717954367179543671795436-
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)8291DYSFConflicting interpretations of pathogenicity727503910RCV000153178|RCV000668306|RCV003462058|RCV003329115; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271795448717954482:g.71795448G>CClinGen:CA233931,UniProtKB:O75923#VAR_057856C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)8291DYSFUncertain significance774307376RCV000815321|RCV001830786; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795452717954522:g.71795452G>C-
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)8291DYSFLikely pathogenic2092231526RCV001263678; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795457717954572:g.71795457T>A-
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)8291DYSFConflicting interpretations of pathogenicity150717638RCV000380360|RCV001246606|RCV001833413|RCV002480056; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271795459717954592:g.71795459C>TClinGen:CA1706296CN169374 not specified;
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)8291DYSFBenign/Likely benign34836829RCV000080258|RCV000556584|RCV001274458|RCV001795101; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271795460717954602:g.71795460G>AClinGen:CA147740C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)8291DYSFUncertain significance201209494RCV000313252|RCV000393103|RCV000731372|RCV000702161|RCV002252100|RCV001828333; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073||MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795468717954682:g.71795468C>TClinGen:CA1706297C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2864+1G>A8291DYSFPathogenic/Likely pathogenic199954546RCV000512137|RCV001263253|RCV001217776|RCV002286745; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C366190027179546971795469NC_000002.11:g.71795469G>AClinGen:CA1706298C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2864+5G>A8291DYSFConflicting interpretations of pathogenicity886044131RCV000342909|RCV000647998|RCV000668205; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795473717954732:g.71795473G>AClinGen:CA10606385C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2864+8G>A8291DYSFConflicting interpretations of pathogenicity371686795RCV000308748|RCV001086799|RCV001271798; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271795476717954762:g.71795476G>AClinGen:CA1706300C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2865-2A>C8291DYSFPathogenic886043964RCV000368085|RCV000594701; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271796948717969482:g.71796948A>CClinGen:CA10606168C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=)8291DYSFLikely benign143775913RCV000559921|RCV001274459; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179696871796968NC_000002.11:g.71796968C>TClinGen:CA1706321C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)8291DYSFConflicting interpretations of pathogenicity535367520RCV000793819|RCV001271799|RCV003144591; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271796969717969692:g.71796969G>A-
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)8291DYSFPathogenic202218890RCV000262612|RCV000725415|RCV000763505|RCV000791498|RCV003401245|RCV003469231; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orph27179701471797014NC_000002.11:g.71797014C>TClinGen:CA1706331C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)8291DYSFLikely pathogenic752689148RCV002014091|RCV003314031; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717970157179701571797015-
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)8291DYSFConflicting interpretations of pathogenicity192717273RCV000953941|RCV001271800; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797022717970222:g.71797022C>T-
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg)8291DYSFUncertain significance151064013RCV000534690|RCV000732763|RCV001276434; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797023717970232:g.71797023G>AClinGen:CA49745900C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=)8291DYSFConflicting interpretations of pathogenicity886042637RCV000261131|RCV003153550; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797028717970282:g.71797028C>TClinGen:CA10604507CN169374 not specified;
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)8291DYSFConflicting interpretations of pathogenicity144636654RCV000367959|RCV000403556|RCV000725533|RCV001079396|RCV001272822|RCV001449649|RCV001535633|RCV001810433; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271797041717970412:g.71797041A>TClinGen:CA242772C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys)8291DYSFUncertain significance775907195RCV001371611|RCV001831305; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717970427179704271797042-
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn)8291DYSFUncertain significance2152814096RCV001563814|RCV001563813|RCV001563904; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784002717970537179705371797053-
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn)8291DYSFUncertain significance200422222RCV001309352|RCV001507561|RCV001836285; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717970597179705971797059-
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)8291DYSFConflicting interpretations of pathogenicity142404822RCV000726965|RCV001081802|RCV001449654|RCV001834885; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797361717973612:g.71797361C>TClinGen:CA1706362CN169374 not specified;
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)8291DYSFConflicting interpretations of pathogenicity34061568RCV000270967|RCV000325795|RCV000725139|RCV001084284|RCV001272823; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797381717973812:g.71797381A>CClinGen:CA1706371C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly)8291DYSFUncertain significance1574058921RCV001295500|RCV001835390; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717973877179738771797387-
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)8291DYSFUncertain significance763925689RCV001215611|RCV001833880; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797392717973922:g.71797392G>C-
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)8291DYSFLikely pathogenic763925689RCV001263962; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797392717973922:g.71797392G>T-
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)8291DYSFPathogenic/Likely pathogenic750028300RCV000666237|RCV000763506|RCV003465448; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MOND271797407717974072:g.71797407T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)8291DYSFLikely pathogenic-1RCV002307952; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717974107179741071797410-
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)8291DYSFLikely pathogenic2092343409RCV001263963; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797414717974142:g.71797414G>A-
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys)8291DYSFUncertain significance755791637RCV000808497|RCV001825608; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797422717974222:g.71797422G>A-
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)8291DYSFPathogenic28937581RCV000007059|RCV000176869|RCV000790765|RCV001232546; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327179743071797430NC_000002.11:g.71797430G>TClinGen:CA222147,UniProtKB:O75923#VAR_057857,OMIM:603009.0010C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser)8291DYSFUncertain significance772518246RCV000176870|RCV000704398|RCV001276435|RCV002500492; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271797444717974442:g.71797444A>GClinGen:CA242960C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp)8291DYSFUncertain significance778316824RCV000669701|RCV002531236; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271797446717974462:g.71797446C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly)8291DYSFUncertain significance-1RCV002287916; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682717974597179745971797459-
NM_001130987.2(DYSF):c.3085+1G>T8291DYSFLikely pathogenic1553555585RCV000590966; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179746571797465NC_000002.11:g.71797465G>TClinGen:CA347216871C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3085+2T>C8291DYSFPathogenic886042951RCV000280615|RCV001037309|RCV001828208|RCV003469233; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271797466717974662:g.71797466T>CClinGen:CA10604913C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3086-17G>A8291DYSFBenign3764971RCV000080262|RCV001527219|RCV001664340|RCV001664341|RCV002055162; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271797712717977122:g.71797712G>AClinGen:CA147742CN169374 not specified;
NM_001130987.2(DYSF):c.3086-17G>T8291DYSFConflicting interpretations of pathogenicity3764971RCV000080263|RCV000667521|RCV002515772; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271797712717977122:g.71797712G>TClinGen:CA222149C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly)8291DYSFUncertain significance2152815107RCV002023588|RCV002507813; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784002717977357179773571797735-
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)8291DYSFPathogenic/Likely pathogenic756328339RCV000176934|RCV000724183|RCV001050002|RCV001804906|RCV003468860; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427179773871797738NC_000002.11:g.71797738A>GClinGen:CA275155C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup)8291DYSFUncertain significance1553555901RCV000670014|RCV001868238; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271797739717977402:g.71797739_71797740insAGCATC-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met)8291DYSFLikely benign768787171RCV000548061|RCV001829588; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797745717977452:g.71797745C>GClinGen:CA1706423C2931687 Dysferlinopathy;
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)8291DYSFPathogenic/Likely pathogenic756118312RCV000593315|RCV000726866|RCV001238017|RCV003465338; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271797746717977472:g.71797746_71797747insCClinGen:CA1706424C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)8291DYSFLikely pathogenic753711667RCV001004952; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797751717977512:g.71797751_71797751del-
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu)8291DYSFUncertain significance770593405RCV000807552|RCV001825604; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797753717977532:g.71797753C>T-
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)8291DYSFConflicting interpretations of pathogenicity143475751RCV000280424|RCV000322455|RCV000376750|RCV000648035|RCV001091458|RCV001276436; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797754717977542:g.71797754C>TClinGen:CA1706430C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)8291DYSFConflicting interpretations of pathogenicity764931697RCV000313635|RCV000666376|RCV000701610|RCV002494839; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271797756717977562:g.71797756C>TClinGen:CA1706432C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)8291DYSFConflicting interpretations of pathogenicity398123778RCV000080264|RCV000263463|RCV000318489|RCV000666317|RCV001084847; NMedGen:C3661900|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271797757717977572:g.71797757G>AClinGen:CA222150CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val)8291DYSFUncertain significance1237272381RCV000685404|RCV001276437; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179775971797759NC_000002.11:g.71797759A>T-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)8291DYSFConflicting interpretations of pathogenicity762486621RCV000799347|RCV001830718|RCV002487681; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0271797761717977612:g.71797761C>T-
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)8291DYSFBenign/Likely benign34211915RCV000080265|RCV000526480|RCV001276438|RCV001699117; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271797762717977622:g.71797762G>AClinGen:CA147743,UniProtKB:O75923#VAR_024861C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)8291DYSFConflicting interpretations of pathogenicity372880553RCV000310622|RCV000803161|RCV001833347|RCV003463758; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179776871797768NC_000002.11:g.71797768C>TClinGen:CA1706435CN169374 not specified;
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro)8291DYSFUncertain significance2092365476RCV001227601|RCV001833966; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797774717977742:g.71797774A>C-
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)8291DYSFLikely pathogenic-1RCV002306506; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717977787179777871797778-
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)8291DYSFConflicting interpretations of pathogenicity1358370392RCV000551403|RCV001272824|RCV003144341; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271797782717977822:g.71797782C>GClinGen:CA347216998C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile)8291DYSFUncertain significance2092366716RCV001277413; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797796717977962:g.71797796G>A-
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala)8291DYSFUncertain significance550721009RCV000288322|RCV001823129; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797803717978032:g.71797803A>GClinGen:CA1706443CN169374 not specified;
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg)8291DYSFUncertain significance770883682RCV000707195|RCV001830567; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827179780471797804NC_000002.11:g.71797804C>G-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)8291DYSFPathogenic369607332RCV000201098|RCV000255805|RCV000526163|RCV001814110|RCV003462352; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|27179780971797809NC_000002.11:g.71797809C>TClinGen:CA277609C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)8291DYSFPathogenic/Likely pathogenic150877497RCV000493116|RCV000555598|RCV000596380|RCV001196058|RCV003469174; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271797810717978102:g.71797810G>AClinGen:CA1706448,UniProtKB:O75923#VAR_024862,ClinVar:424829C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)8291DYSFConflicting interpretations of pathogenicity760443264RCV000351237|RCV000665378|RCV001297834|RCV003469226; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271797812717978122:g.71797812C>TClinGen:CA1706450C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)8291DYSFPathogenic/Likely pathogenic1553556116RCV000591140|RCV001376861|RCV002271535|RCV003465340|RCV003338676; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet27179781571797815NC_000002.11:g.71797815C>TClinGen:CA347217064C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)8291DYSFConflicting interpretations of pathogenicity144598063RCV000361984|RCV000665677|RCV000693473|RCV003401254; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|271797818717978182:g.71797818C>TClinGen:CA1706454C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)8291DYSFConflicting interpretations of pathogenicity754763074RCV000592866|RCV001563741|RCV001563740|RCV001563742|RCV001854033; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271797819717978192:g.71797819G>AClinGen:CA1706455CN169374 not specified;
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)8291DYSFLikely pathogenic2092369130RCV001263964; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797822717978222:g.71797822G>A-
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys)8291DYSFUncertain significance539727858RCV000296726|RCV002480029|RCV002519242; NMedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271797827717978272:g.71797827C>TClinGen:CA1706457CN169374 not specified;
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)8291DYSFUncertain significance779159879RCV000733158|RCV000807145|RCV001267332|RCV001825478|RCV002477723; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C185027179782871797828NC_000002.11:g.71797828G>A-
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)8291DYSFConflicting interpretations of pathogenicity752810646RCV000518215|RCV001239622|RCV001834664|RCV003144306; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227179783371797833NC_000002.11:g.71797833C>TClinGen:CA1706459CN169374 not specified;
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)8291DYSFPathogenic/Likely pathogenic121908958RCV000007060|RCV000176936|RCV000763088|RCV000790688|RCV001229764; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MOND27179783471797834NC_000002.11:g.71797834G>AClinGen:CA222152,UniProtKB:O75923#VAR_024863,OMIM:603009.0011C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)8291DYSFLikely pathogenic-1RCV002306514; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482717978587179785871797857-
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val)8291DYSFUncertain significance766204227RCV001225094|RCV001828794; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797861717978612:g.71797861C>T-
NM_001130987.2(DYSF):c.3228+8_3228+33del8291DYSFLikely benign1553556251RCV000672722|RCV001449061; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271797876717979012:g.71797876_71797901del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3228+7C>T8291DYSFConflicting interpretations of pathogenicity534331009RCV000386995|RCV001088534|RCV001272825; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271797878717978782:g.71797878C>TClinGen:CA1706463CN169374 not specified;
NM_001130987.2(DYSF):c.3228+8A>C8291DYSFLikely benign749135257RCV001272826|RCV001487949; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271797879717978792:g.71797879A>C-
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])8291DYSFBenign/Likely benign398123779RCV000244470|RCV000352457|RCV000388477|RCV000541014|RCV001276439|RCV001664343|RCV001664342|RCV001703994; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:60271801334718013352:g.71801334_71801335insAGGCGGClinGen:CA1706490C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4])8291DYSFUncertain significance398123779RCV000668872; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801334718013352:g.71801334_71801335insAGGCGGAGGCGG-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)8291DYSFConflicting interpretations of pathogenicity562368641RCV001244059|RCV001836227|RCV003166527; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271801338718013382:g.71801338C>T-
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)8291DYSFLikely pathogenic1666836481RCV001263965; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801340718013402:g.71801340G>T-
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)8291DYSFLikely pathogenic-1RCV002308074; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718013487180134871801347-
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)8291DYSFPathogenic/Likely pathogenic1252415299RCV001263966|RCV001880071|RCV003462841; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0271801352718013522:g.71801352G>T-
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)8291DYSFConflicting interpretations of pathogenicity150355624RCV000249417|RCV000723785|RCV001086229|RCV001272827; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801366718013662:g.71801366C>TClinGen:CA233933C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)8291DYSFConflicting interpretations of pathogenicity144936357RCV000323183|RCV001089268|RCV001272828; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801396718013962:g.71801396C>TClinGen:CA1706509CN169374 not specified;
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)8291DYSFConflicting interpretations of pathogenicity764208388RCV000593694|RCV001034781|RCV001276440; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801403718014032:g.71801403C>TClinGen:CA1706513CN169374 not specified;
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup)8291DYSFUncertain significance1553361783RCV000673006; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801411718014122:g.71801411_71801412insGAT-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly)8291DYSFUncertain significance1486623448RCV001216120|RCV001828719; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801416718014162:g.71801416C>G-
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup)8291DYSFUncertain significance779680055RCV000673125|RCV002532143; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271801419718014202:g.71801419_71801420insCCG-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del)8291DYSFUncertain significance-1RCV003389382; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827180142071801428-
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys)8291DYSFUncertain significance377079619RCV000296321|RCV000689297|RCV001276441; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801421718014212:g.71801421C>TClinGen:CA1706520C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)8291DYSFUncertain significance758284713RCV000733159|RCV000793069|RCV001272829; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827180142771801427NC_000002.11:g.71801427C>T-
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys)8291DYSFUncertain significance372817333RCV000346849|RCV000694223|RCV001833384|RCV002519312; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271801430718014302:g.71801430C>TClinGen:CA1706525C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del)8291DYSFUncertain significance1553361884RCV000671002; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801431718014332:g.71801431_71801433del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)8291DYSFBenign/Likely benign141536854RCV000153180|RCV000710128|RCV001084337|RCV001831951; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801436718014362:g.71801436C>TClinGen:CA179989C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys)8291DYSFUncertain significance148171293RCV001299104|RCV001836264; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718014397180143971801439-
NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser)8291DYSFUncertain significance-1RCV002287919; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718014397180143971801439-
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)8291DYSFConflicting interpretations of pathogenicity59915619RCV000116927|RCV000532523|RCV001086595|RCV001826784; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801440718014402:g.71801440G>AClinGen:CA152663,UniProtKB:O75923#VAR_061170C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)8291DYSFConflicting interpretations of pathogenicity147483765RCV000383544|RCV001085324|RCV001276442; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271801442718014422:g.71801442C>TClinGen:CA1706529C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His)8291DYSFUncertain significance749610930RCV000542825|RCV001834791; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827180144371801443NC_000002.11:g.71801443G>AClinGen:CA1706530C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)8291DYSFLikely pathogenic-1RCV002306529; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718014657180146571801464-
NM_001130987.2(DYSF):c.3403-10G>A8291DYSFConflicting interpretations of pathogenicity116733194RCV000249764|RCV000725483|RCV001082993|RCV001272830; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827181671371816713NC_000002.11:g.71816713G>AClinGen:CA1706549C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3403-2A>G8291DYSFPathogenic370874727RCV000277199|RCV000701150|RCV000984258|RCV003468863; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827181672171816721NC_000002.11:g.71816721A>GClinGen:CA275204C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser)8291DYSFUncertain significance202000264RCV001977674|RCV003146436|RCV002287902; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718167267181672671816726-
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=)8291DYSFLikely benign146498307RCV000874854|RCV001830920; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271816728718167282:g.71816728C>T-
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)8291DYSFLikely pathogenic-1RCV003226008; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827181675271816753-
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)8291DYSFConflicting interpretations of pathogenicity148925399RCV000294142|RCV000347373|RCV000727170|RCV001140788|RCV001276443; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271816762718167622:g.71816762G>AClinGen:CA1706568CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)8291DYSFConflicting interpretations of pathogenicity959125009RCV001344867|RCV001831109|RCV003145594; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN5172022718167667181676671816766-
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=)8291DYSFLikely benign778088008RCV001277414|RCV001439009; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271816779718167792:g.71816779C>T-
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)8291DYSFConflicting interpretations of pathogenicity576460368RCV000194280|RCV000664777|RCV001462615; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271816797718167972:g.71816797G>AClinGen:CA208352C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn)8291DYSFUncertain significance761528558RCV000557323|RCV001834792; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827181681371816813NC_000002.11:g.71816813G>AClinGen:CA1706579C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3497-33A>G8291DYSFPathogenic786205083RCV000007067; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827181730871817308NC_000002.11:g.71817308A>GClinGen:CA253915,OMIM:603009.0016C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)8291DYSFPathogenic398123781RCV000382340|RCV000535509|RCV000763089|RCV000984168|RCV003460750; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:227181734271817343NC_000002.11:g.71817342_71817343delinsAAClinGen:CA222156C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)8291DYSFConflicting interpretations of pathogenicity138317526RCV000348989|RCV001459031|RCV001835771; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271817345718173452:g.71817345G>AClinGen:CA1706609CN169374 not specified;
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)8291DYSFConflicting interpretations of pathogenicity200719174RCV000523566|RCV001142639|RCV001829492; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271817349718173492:g.71817349C>TClinGen:CA1706610CN169374 not specified;
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His)8291DYSFUncertain significance780134612RCV000598301|RCV000822828|RCV001829677|RCV002532577; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327181735071817350NC_000002.11:g.71817350G>AClinGen:CA1706612CN169374 not specified;
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)8291DYSFConflicting interpretations of pathogenicity770648429RCV000734455|RCV000795781|RCV001830640; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827181737271817372NC_000002.11:g.71817372G>A-
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)8291DYSFPathogenic886042091RCV000518638|RCV001247365|RCV001828174|RCV003469217; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827181737671817376NC_000002.11:g.71817376C>TClinGen:CA10603799C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp)8291DYSFUncertain significance759297236RCV000648005|RCV000728182|RCV001276444; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271817382718173822:g.71817382C>TClinGen:CA1706619C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)8291DYSFConflicting interpretations of pathogenicity139194093RCV000382528|RCV000648004|RCV001272831|RCV003243035; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271817385718173852:g.71817385G>AClinGen:CA1706621C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)8291DYSFConflicting interpretations of pathogenicity201319864RCV000262877|RCV001088632|RCV001272832; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271817396718173962:g.71817396G>AClinGen:CA1706624CN169374 not specified;
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)8291DYSFPathogenic886042504RCV000348399|RCV001381377|RCV001833324|RCV003105845; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271817401718174022:g.71817401_71817402insCClinGen:CA10604325C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)8291DYSFLikely pathogenic2093222376RCV001263967; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271817403718174032:g.71817403A>T-
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val)8291DYSFUncertain significance1442583354RCV000647990|RCV001829802; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271817407718174072:g.71817407A>TClinGen:CA347220862C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)8291DYSFPathogenic886042827RCV000359987|RCV000725414|RCV002518918|RCV003463753; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271817408718174092:g.71817408_71817409delClinGen:CA10604734C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)8291DYSFPathogenic766341386RCV000410481|RCV000517136|RCV000689015|RCV003470334; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827181741071817411NC_000002.11:g.71817415dupClinGen:CA1706625C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)8291DYSFPathogenic766341386RCV000201179|RCV000648007|RCV000723518|RCV003155121|RCV003462353; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427181741171817412NC_000002.11:g.71817414_71817415delClinVar:424774,ClinGen:CA279106C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3577C>T (p.Pro1193Ser)8291DYSFUncertain significance916964397RCV001277415; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825696718256962:g.71825696C>T-
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)8291DYSFConflicting interpretations of pathogenicity79899601RCV000116928|RCV000307614|RCV000343725|RCV000711556|RCV001082923|RCV001276445|RCV001449951; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:271825707718257072:g.71825707C>TClinGen:CA152665C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala)8291DYSFUncertain significance-1RCV003340789; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182576571825765-
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)8291DYSFLikely pathogenic2093464314RCV001263968; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825770718257702:g.71825770G>A-
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)8291DYSFPathogenic1380642629RCV000673436|RCV003465528; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271825774718257742:g.71825774C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met)8291DYSFUncertain significance1294912316RCV000616371|RCV001242961|RCV001829727; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182577871825778NC_000002.11:g.71825778C>TClinGen:CA347223930CN169374 not specified;
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del)8291DYSFUncertain significance1173583014RCV000669993; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825784718257862:g.71825784_71825786del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)8291DYSFLikely pathogenic-1RCV002306623; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718257867182579271825785-
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=)8291DYSFConflicting interpretations of pathogenicity143393575RCV000665577|RCV000964699|RCV002460905; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202271825791718257912:g.71825791C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)8291DYSFPathogenic/Likely pathogenic143393575RCV001263969|RCV001780216|RCV003469492; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,O271825791718257912:g.71825791C>A-
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)8291DYSFConflicting interpretations of pathogenicity148858485RCV000274574|RCV000725546|RCV001083505|RCV001276446|RCV001509578; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271825797718257972:g.71825797C>TClinGen:CA1706662C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)8291DYSFConflicting interpretations of pathogenicity148858485RCV000725593|RCV001081328|RCV001272833; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825797718257972:g.71825797C>GClinGen:CA1706663C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)8291DYSFLikely pathogenic773773555RCV001264128; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825798718257982:g.71825798G>T-
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)8291DYSFConflicting interpretations of pathogenicity150942486RCV000727399|RCV000765698|RCV001272834|RCV001485096|RCV001563734|RCV001563735; NMedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,O271825814718258142:g.71825814C>TClinGen:CA1706667CN169374 not specified;
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)8291DYSFPathogenic-1RCV002287917; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718258217182582171825820-
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe)8291DYSFUncertain significance1392863221RCV001071507|RCV001276447|RCV003145341; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271825822718258222:g.71825822G>T-
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del)8291DYSFUncertain significance748683903RCV000669697; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825830718258352:g.71825830_71825835del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu)8291DYSFUncertain significance368556029RCV000595501|RCV001064242|RCV001272835; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825835718258352:g.71825835C>TClinGen:CA1706672CN169374 not specified;
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)8291DYSFUncertain significance1385670493RCV000820141|RCV001830800; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825838718258382:g.71825838C>T-
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)8291DYSFConflicting interpretations of pathogenicity2152855991RCV001814396|RCV001873812|RCV002290717; NHuman Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718258567182585671825856-
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)8291DYSFUncertain significance747606668RCV000819621|RCV001272836|RCV003145201; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271825866718258662:g.71825866T>G-
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)8291DYSFConflicting interpretations of pathogenicity141720146RCV000723882|RCV001084642|RCV001276448; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825875718258752:g.71825875T>CClinGen:CA233935C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)8291DYSFLikely pathogenic1574264671RCV001004973; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271825875718258752:g.71825875_71825875del-
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr)8291DYSFLikely benign556134001RCV001344533|RCV001825905; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718278357182783571827835-
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)8291DYSFPathogenic/Likely pathogenic758107024RCV001004979|RCV001091460|RCV001814254|RCV002551718; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271827837718278372:g.71827837_71827837del-
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=)8291DYSFLikely benign781758050RCV001277416|RCV001474614; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271827840718278402:g.71827840C>T-
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)8291DYSFUncertain significance369170272RCV000304009|RCV000401895|RCV000684979|RCV001276449|RCV001764307; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271827853718278532:g.71827853C>TClinGen:CA1706704C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)8291DYSFConflicting interpretations of pathogenicity2303603RCV000326858|RCV000517716|RCV000710129|RCV001085630; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271827854718278542:g.71827854G>AClinGen:CA1706705C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=)8291DYSFUncertain significance762041312RCV000393155|RCV001039223|RCV001276450; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182786771827867NC_000002.11:g.71827867A>GClinGen:CA1706709CN169374 not specified;
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu)8291DYSFUncertain significance539141161RCV000548649|RCV001829589; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182786971827869NC_000002.11:g.71827869C>TClinGen:CA1706710C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)8291DYSFConflicting interpretations of pathogenicity753817458RCV000796223|RCV001272837|RCV001507562; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271827880718278802:g.71827880C>T-
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)8291DYSFLikely pathogenic1553376558RCV000669537; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271827901718279012:g.71827901_71827901del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)8291DYSFConflicting interpretations of pathogenicity202013788RCV000707469|RCV001830568|RCV003144573; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227182791171827911NC_000002.11:g.71827911C>T-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs)8291DYSFLikely pathogenic1574277160RCV000855441; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271827914718279292:g.71827914_71827929del-
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His)8291DYSFUncertain significance774779883RCV000734980|RCV001229003|RCV001830643; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182792471827924NC_000002.11:g.71827924G>C-
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)8291DYSFUncertain significance761916273RCV000264009|RCV000358671|RCV000696075|RCV001507563|RCV001833464; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271827926718279262:g.71827926C>TClinGen:CA1706725C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)8291DYSFConflicting interpretations of pathogenicity139983909RCV000247034|RCV000300857|RCV000355657|RCV000725763|RCV001087720|RCV001272838; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182792771827927NC_000002.11:g.71827927G>AClinGen:CA1706726CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)8291DYSFPathogenic763674597RCV000674515|RCV001784295|RCV001855610|RCV003459646; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271827934718279342:g.71827934G>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)8291DYSFPathogenic727503911RCV000323235|RCV000809801|RCV000984259|RCV002492572|RCV003467211; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 27182796171827961NC_000002.11:g.71827961C>TClinGen:CA233937C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)8291DYSFLikely pathogenic1462064763RCV001264129; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271827970718279702:g.71827970A>T-
NM_001130987.2(DYSF):c.3897+1G>A8291DYSFPathogenic/Likely pathogenic1553376691RCV000674149|RCV001386682; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271827973718279732:g.71827973G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3898-4C>G8291DYSFConflicting interpretations of pathogenicity555206040RCV000260889|RCV000275365|RCV000316173|RCV001081454|RCV001272839; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271828625718286252:g.71828625C>GClinGen:CA1706771C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu)8291DYSFUncertain significance767190885RCV001240014|RCV001834112; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271828630718286302:g.71828630C>T-
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=)8291DYSFUncertain significance772742658RCV000648012|RCV001829804; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182863171828631NC_000002.11:g.71828631G>AClinGen:CA1706774C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)8291DYSFUncertain significance202061751RCV000726938|RCV001242148|RCV001276451; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271828638718286382:g.71828638C>TClinGen:CA1706778CN169374 not specified;
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala)8291DYSFUncertain significance370620594RCV001045729|RCV001272840|RCV003145281; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271828647718286472:g.71828647C>G-
NM_001130987.2(DYSF):c.3928-10T>C8291DYSFUncertain significance1558589946RCV000686084|RCV001830484; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827182989671829896NC_000002.11:g.71829896T>C-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)8291DYSFConflicting interpretations of pathogenicity535831045RCV001056589|RCV001272841|RCV003145310; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271829921718299212:g.71829921A>G-
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)8291DYSFConflicting interpretations of pathogenicity121908954RCV000007049|RCV000153183|RCV000509353|RCV000658868|RCV000681611|RCV001137897|RCV001563901; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN239317|MONDO:MONDO:0011721,MedGen:C1271829924718299242:g.71829924A>GClinGen:CA179991,UniProtKB:O75923#VAR_012309,OMIM:603009.0003C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=)8291DYSFUncertain significance781449138RCV001230870|RCV001828843; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271829935718299352:g.71829935G>A-
NM_001130987.2(DYSF):c.3957+2T>A8291DYSFLikely pathogenic1553377764RCV000667027; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271829937718299372:g.71829937T>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)8291DYSFLikely pathogenic1553381945RCV000664892; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838386718383862:g.71838386_71838386del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu)8291DYSFUncertain significance1185353979RCV001222335|RCV001833927; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838400718384002:g.71838400C>T-
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)8291DYSFLikely pathogenic1558613592RCV000785919; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838408718384082:g.71838408C>T-
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=)8291DYSFLikely benign201966225RCV001423810|RCV001826234; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718384227183842271838422-
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe)8291DYSFUncertain significance767889531RCV000378455|RCV001038056|RCV001833387; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838432718384322:g.71838432G>TClinGen:CA1706840CN169374 not specified;
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)8291DYSFBenign11558179RCV000080280|RCV000331227|RCV000385728|RCV001140150|RCV001276452|RCV001527261; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271838443718384432:g.71838443C>TClinGen:CA147751CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)8291DYSFConflicting interpretations of pathogenicity145401010RCV000291639|RCV000346595|RCV000419423|RCV001080538|RCV001272842|RCV001753802; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271838444718384442:g.71838444A>GClinGen:CA1706842,UniProtKB:O75923#VAR_057861C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)8291DYSFConflicting interpretations of pathogenicity201476613RCV000340111|RCV001086001|RCV001820813|RCV001835749; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827183845471838454NC_000002.11:g.71838454C>TClinGen:CA1706844CN169374 not specified;
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)8291DYSFPathogenic778092738RCV000669562|RCV001089589|RCV001868234; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271838459718384592:g.71838459C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys)8291DYSFUncertain significance760074198RCV000686706|RCV001271530; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838462718384622:g.71838462C>T-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)8291DYSFBenign/Likely benign61742872RCV000080281|RCV000530026|RCV001271531|RCV001795103; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271838463718384632:g.71838463G>TClinGen:CA147753,UniProtKB:O75923#VAR_024867C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)8291DYSFConflicting interpretations of pathogenicity61742872RCV000733708|RCV001247790|RCV001830635; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827183846371838463NC_000002.11:g.71838463G>A-
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)8291DYSFLikely pathogenic-1RCV002308383; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718384697183846971838468-
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)8291DYSFPathogenic/Likely pathogenic758993965RCV000812166|RCV001089590|RCV001830775|RCV003461204; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271838474718384742:g.71838474G>A-
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=)8291DYSFUncertain significance773542731RCV000648002|RCV001829803; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827183847671838476NC_000002.11:g.71838476G>AClinGen:CA1706855C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4060-7T>A8291DYSFUncertain significance753614306RCV000711559|RCV000815486|RCV001271532; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827183858871838588NC_000002.11:g.71838588T>A-
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)8291DYSFBenign2303606RCV000080282|RCV000288114|RCV000382443|RCV000711560|RCV001140151|RCV001271533|RCV001527262|RCV001664345; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:271838597718385972:g.71838597C>AClinGen:CA147755CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)8291DYSFPathogenic/Likely pathogenic757917335RCV000671892|RCV001247195|RCV001531487; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900271838611718386112:g.71838611T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)8291DYSFConflicting interpretations of pathogenicity139529811RCV000726406|RCV001086957|RCV001271534; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838641718386412:g.71838641A>GClinGen:CA1706892C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)8291DYSFBenign/Likely benign2303607RCV000080284|RCV000303528|RCV000339768|RCV000533086|RCV001271535|RCV001527263|RCV001795104; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271838657718386572:g.71838657C>TClinGen:CA147757C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)8291DYSFPathogenic/Likely pathogenic776472879RCV000591033|RCV002491213; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:17840027183867071838670NC_000002.11:g.71838670T>CClinGen:CA1706900C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)8291DYSFConflicting interpretations of pathogenicity149182447RCV000331066|RCV000820404|RCV001828229; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827183868371838683NC_000002.11:g.71838683C>TClinGen:CA1706904CN169374 not specified;
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met)8291DYSFUncertain significance1404000468RCV000671205; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838685718386852:g.71838685G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)8291DYSFPathogenic/Likely pathogenic1574340607RCV000993848; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838713718387132:g.71838713_71838713del-
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=)8291DYSFLikely benign555086420RCV000944948|RCV001274830; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838747718387472:g.71838747C>T-
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)8291DYSFPathogenic866823474RCV000855418; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838751718387512:g.71838751G>T-
NM_001130987.2(DYSF):c.4221+1G>C8291DYSFPathogenic1474151297RCV000671253|RCV002531273; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271838757718387572:g.71838757G>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4221+5del8291DYSFLikely pathogenic1574341049RCV001004971; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271838761718387612:g.71838761_71838761del-
NM_001130987.2(DYSF):c.4221+10A>G8291DYSFLikely benign1448201474RCV001274831|RCV001493173; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271838766718387662:g.71838766A>G-
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys)8291DYSFUncertain significance775254512RCV000559081|RCV001829590; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839793718397932:g.71839793A>GClinGen:CA347229226C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe)8291DYSFUncertain significance775254512RCV001036701|RCV001271536; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839793718397932:g.71839793A>T-
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)8291DYSFPathogenic398123786RCV000537543|RCV000790760|RCV000984262|RCV002283453|RCV002490697|RCV003466984; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:17827183979671839797NC_000002.11:g.71839803dupClinGen:CA222163C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)8291DYSFPathogenic971134497RCV001043809|RCV001827266; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839797718397972:g.71839797C>A-
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)8291DYSFConflicting interpretations of pathogenicity151268930RCV000313317|RCV000370350|RCV000517870|RCV000727268|RCV001083961|RCV001274832; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839801718398012:g.71839801C>GClinGen:CA1706942CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)8291DYSFConflicting interpretations of pathogenicity138268837RCV000494287|RCV000672486|RCV001085319|RCV001449591; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271839802718398022:g.71839802C>GClinGen:CA1706944C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His)8291DYSFUncertain significance138268837RCV001203031|RCV001828630|RCV003145373; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271839802718398022:g.71839802C>A-
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)8291DYSFConflicting interpretations of pathogenicity142769942RCV000177975|RCV001084664|RCV001274833|RCV001640271; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374271839803718398032:g.71839803C>TClinGen:CA244985C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys)8291DYSFUncertain significance138097846RCV000543049|RCV001274834|RCV003144342; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271839828718398282:g.71839828C>TClinGen:CA1706950C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His)8291DYSFUncertain significance758688467RCV000819348|RCV001271537; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839829718398292:g.71839829G>A-
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)8291DYSFPathogenic769721856RCV000272470|RCV000984261|RCV001382219; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271839831718398312:g.71839831C>TClinGen:CA1706954C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del)8291DYSFUncertain significance765090357RCV000672706; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839838718398402:g.71839838_71839840del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)8291DYSFUncertain significance768354800RCV000690511|RCV000734645|RCV001274835|RCV002547153; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271839841718398412:g.71839841G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)8291DYSFConflicting interpretations of pathogenicity774011358RCV000596365|RCV001370590|RCV001829658; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839843718398432:g.71839843C>TClinGen:CA1706959CN169374 not specified;
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln)8291DYSFUncertain significance761337469RCV000557876|RCV001834794; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827183984471839844NC_000002.11:g.71839844G>AClinGen:CA1706960C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)8291DYSFUncertain significance766924837RCV000647985|RCV001835042|RCV002507111|RCV003144427; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:001127183985271839852NC_000002.11:g.71839852G>AClinGen:CA1706964C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)8291DYSFPathogenic/Likely pathogenic398123787RCV000080287|RCV000177998|RCV000536105|RCV003460751; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827183985671839856NC_000002.11:g.71839856G>AClinGen:CA222164C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)8291DYSFConflicting interpretations of pathogenicity377706756RCV000358891|RCV001140902|RCV001833383; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839870718398702:g.71839870C>TClinGen:CA1706966CN169374 not specified;
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=)8291DYSFLikely benign758538165RCV000876568|RCV001274836; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839872718398722:g.71839872C>T-
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)8291DYSFConflicting interpretations of pathogenicity144072850RCV000960106|RCV001274837; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839890718398902:g.71839890G>A-
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)8291DYSFLikely pathogenic-1RCV002310131; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718398967183989771839896-
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)8291DYSFLikely pathogenic-1RCV002310417; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718398967183989671839895-
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser)8291DYSFLikely benign757346544RCV001304762|RCV001835471; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718399017183990171839901-
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)8291DYSFPathogenic886043145RCV000556431|RCV000597200|RCV002494847|RCV003463761; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178427183990271839902NC_000002.11:g.71839902C>GClinGen:CA10605167C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)8291DYSFConflicting interpretations of pathogenicity139411595RCV000278721|RCV000792442|RCV001274838|RCV002518888; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327183990471839904NC_000002.11:g.71839904C>TClinGen:CA1706972CN169374 not specified;
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)8291DYSFConflicting interpretations of pathogenicity368451006RCV000690467|RCV001274839; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839905718399052:g.71839905G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val)8291DYSFUncertain significance754979997RCV000595686|RCV001373255|RCV001834877; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839907718399072:g.71839907C>TClinGen:CA1706974CN169374 not specified;
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=)8291DYSFConflicting interpretations of pathogenicity371816429RCV001239752|RCV001664773|RCV001828935; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839908718399082:g.71839908G>A-
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu)8291DYSFUncertain significance1471848144RCV001317165|RCV001830304; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718399167183991671839916-
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser)8291DYSFUncertain significance151109021RCV001060798|RCV001827383; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839921718399212:g.71839921C>T-
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)8291DYSFConflicting interpretations of pathogenicity76576806RCV000116929|RCV000711561|RCV001080539|RCV001271538; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839926718399262:g.71839926G>AClinGen:CA152667C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4387+3_4387+28del8291DYSFUncertain significance1553383255RCV000665077; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271839934718399592:g.71839934_71839959del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)8291DYSFConflicting interpretations of pathogenicity61746816RCV000594283|RCV001082513|RCV001829647; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271840465718404652:g.71840465C>TClinGen:CA1706997C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)8291DYSFPathogenic/Likely pathogenic576130413RCV001264130|RCV001389481|RCV003226456; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0271840490718404902:g.71840490G>T-
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)8291DYSFConflicting interpretations of pathogenicity367709130RCV000824074|RCV001271539|RCV001766755|RCV002538195; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MeSH:D030342,MedGen:C0950123271840499718404992:g.71840499C>T-
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=)8291DYSFLikely benign371231895RCV001825817|RCV000903846; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271840501718405012:g.71840501C>T-
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)8291DYSFConflicting interpretations of pathogenicity145690047RCV000080289|RCV000273478|RCV000330853|RCV000539088|RCV001719834|RCV001826718; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271840504718405042:g.71840504C>TClinGen:CA222168C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn)8291DYSFConflicting interpretations of pathogenicity767788624RCV001004986|RCV002551719; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271840505718405052:g.71840505G>A-
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)8291DYSFBenign61738567RCV000116930|RCV000549464|RCV001271540; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271840506718405062:g.71840506A>GClinGen:CA152669C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn)8291DYSFConflicting interpretations of pathogenicity765027886RCV001211296|RCV001833852|RCV003145388; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271840514718405142:g.71840514G>A-
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)8291DYSFPathogenic1574354515RCV000824113|RCV001830826; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271840520718405202:g.71840520G>T-
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=)8291DYSFLikely benign1476328093RCV001271541|RCV001478265; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271840528718405282:g.71840528C>T-
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)8291DYSFConflicting interpretations of pathogenicity758226677RCV001043044|RCV001277417|RCV002551526; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271840531718405312:g.71840531C>G-
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)8291DYSFConflicting interpretations of pathogenicity751456837RCV000895370|RCV001274840; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271840537718405372:g.71840537C>T-
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)8291DYSFPathogenic/Likely pathogenic886044411RCV000306643|RCV000726457|RCV003463778; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271840538718405382:g.71840538C>TClinGen:CA10606721C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4464+7T>C8291DYSFConflicting interpretations of pathogenicity369949055RCV000269730|RCV000366694|RCV000876154|RCV001274841|RCV003144232; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271840547718405472:g.71840547T>CClinGen:CA1707013CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.4465-1G>A8291DYSFUncertain significance1553389041RCV000673572; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271847676718476762:g.71847676G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs)8291DYSFLikely benign1553389065RCV000672970; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271847686718476872:g.71847686_71847687insGTCT-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs)8291DYSFLikely benign1553389118RCV000666932; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271847701718477022:g.71847701_71847702insC-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4528-2A>G8291DYSFLikely pathogenic1213965862RCV000665741|RCV001256195|RCV001784234; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202271871093718710932:g.71871093A>G-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys)8291DYSFUncertain significance562261472RCV000689481|RCV001829907; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827187109571871095NC_000002.11:g.71871095G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)8291DYSFLikely pathogenic-1RCV002308439; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718711057187110671871104-
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val)8291DYSFUncertain significance767309227RCV001219236|RCV001833901; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271871107718711072:g.71871107A>G-
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)8291DYSFConflicting interpretations of pathogenicity148055736RCV000244684|RCV000725538|RCV001080585|RCV001271542; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827187110971871109NC_000002.11:g.71871109C>TClinGen:CA1707050C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)8291DYSFPathogenic/Likely pathogenic-1RCV003340929|RCV003466067; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827187111771871117-
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)8291DYSFPathogenic766016391RCV000178461|RCV000527540|RCV000724391|RCV002485170|RCV003468866; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427187111871871118NC_000002.11:g.71871118G>AClinGen:CA275268C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)8291DYSFConflicting interpretations of pathogenicity544993852RCV000327172|RCV000356459|RCV000379509|RCV000542418|RCV001833323; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271871127718711272:g.71871127C>TClinGen:CA1707053C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr)8291DYSFUncertain significance1572921644RCV001004951|RCV001198481; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400271871135718711352:g.71871135C>A-
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val)8291DYSFUncertain significance779344280RCV001228757|RCV001828828; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271871137718711372:g.71871137A>G-
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser)8291DYSFUncertain significance747398354RCV000487916|RCV000822931|RCV001835824; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827187115871871158NC_000002.11:g.71871158G>AClinGen:CA1707058CN517202 not provided;
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)8291DYSFConflicting interpretations of pathogenicity150139276RCV000530924|RCV000664797|RCV000725642|RCV003235177; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MedGen:CN169374271871164718711642:g.71871164T>CClinGen:CA1707060C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)8291DYSFLikely pathogenic-1RCV002310270; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718711667187116671871166-
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)8291DYSFConflicting interpretations of pathogenicity182185801RCV000287411|RCV000321328|RCV001138012|RCV003144233|RCV001828334; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271871175718711752:g.71871175G>TClinGen:CA1707061CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)8291DYSFConflicting interpretations of pathogenicity7573406RCV000080291|RCV000281446|RCV000378288|RCV000542076|RCV001271543|RCV001449941; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271871188718711882:g.71871188C>TClinGen:CA147760C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4626+1G>A8291DYSFLikely pathogenic1558708492RCV000786063; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271871194718711942:g.71871194G>A-
NM_001130987.2(DYSF):c.4626+10C>T8291DYSFLikely benign1420815050RCV001274842|RCV001441737; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271871203718712032:g.71871203C>T-
NM_001130987.2(DYSF):c.4626+43A>G8291DYSFBenign84182RCV000254207|RCV000839719|RCV001527268|RCV001660237|RCV001660236; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:17840027187123671871236NC_000002.11:g.71871236A>GClinGen:CA1707077CN169374 not specified;
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)8291DYSFConflicting interpretations of pathogenicity143895253RCV000552425|RCV000595695|RCV001274843|RCV001507565; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271883292718832922:g.71883292G>AClinGen:CA1707094C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)8291DYSFConflicting interpretations of pathogenicity142483266RCV000245997|RCV000724977|RCV001083095|RCV001274844; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883294718832942:g.71883294C>GClinGen:CA245628C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)8291DYSFConflicting interpretations of pathogenicity757820496RCV000696171|RCV001784229|RCV001810464|RCV003235334|RCV003459566; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784271883296718832962:g.71883296A>G-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro)8291DYSFUncertain significance2094765878RCV001367502|RCV001831276; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718833017188330171883301-
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)8291DYSFLikely pathogenic-1RCV002310318; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718833087188331071883308-
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp)8291DYSFUncertain significance2094766394RCV001277418; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883323718833232:g.71883323C>A-
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)8291DYSFPathogenic/Likely pathogenic1553408378RCV000665389|RCV001861743|RCV003465440; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271883335718833352:g.71883335_71883335del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)8291DYSFLikely pathogenic1572994572RCV001004981; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883355718833552:g.71883355_71883355del-
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)8291DYSFConflicting interpretations of pathogenicity76086153RCV000193503|RCV000560015|RCV001271544|RCV001719835|RCV003398673; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|271883359718833592:g.71883359A>CClinVar:424775,ClinGen:CA207041,UniProtKB:O75923#VAR_057865C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)8291DYSFLikely pathogenic770905160RCV000656078; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827188336671883366NC_000002.11:g.71883366C>GClinGen:CA347219460C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)8291DYSFUncertain significance375698433RCV000647982|RCV000669328|RCV001785690|RCV002252192; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|271883367718833672:g.71883367C>TClinGen:CA1707106C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)8291DYSFUncertain significance1463145288RCV000799796|RCV001830719|RCV003144613; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271883370718833702:g.71883370G>A-
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=)8291DYSFLikely benign775026383RCV000876298|RCV001274845; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883375718833752:g.71883375G>A-
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)8291DYSFConflicting interpretations of pathogenicity144422408RCV000729424|RCV001243182|RCV001825453; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827188337771883377NC_000002.11:g.71883377C>T-
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro)8291DYSFUncertain significance751126464RCV000799385|RCV001825576; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883380718833802:g.71883380A>C-
NM_001130987.2(DYSF):c.4755+5A>C8291DYSFUncertain significance2094768502RCV001277419; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883425718834252:g.71883425A>C-
NM_001130987.2(DYSF):c.4755+10C>T8291DYSFLikely benign139099979RCV000892729|RCV001274846; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271883430718834302:g.71883430C>T-
NM_001130987.2(DYSF):c.4756-3C>T8291DYSFLikely benign371227553RCV000334866|RCV000529091|RCV001083939|RCV001833355; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271886005718860052:g.71886005C>TClinGen:CA1707142C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)8291DYSFConflicting interpretations of pathogenicity149768871RCV000306735|RCV000338437|RCV000406757|RCV001055238|RCV002519192|RCV001833354; NMedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271886032718860322:g.71886032C>TClinGen:CA1707143CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)8291DYSFPathogenic778065845RCV000326568|RCV001070067|RCV001828234|RCV003469240; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827188605371886054NC_000002.11:g.71886054dupClinGen:CA1707147C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val)8291DYSFUncertain significance768130248RCV000796924|RCV001825557; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271886053718860532:g.71886053A>G-
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly)8291DYSFUncertain significance1558750109RCV000711562|RCV001830578; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827188606271886062NC_000002.11:g.71886062A>G-
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr)8291DYSFUncertain significance1298041271RCV000696035|RCV001274847; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827188607171886071NC_000002.11:g.71886071C>T-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)8291DYSFLikely benign771742780RCV000841819|RCV001274848|RCV001494748; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271886073718860732:g.71886073C>T-
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)8291DYSFPathogenic/Likely pathogenic1573009747RCV001004961|RCV001862745; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271886074718860742:g.71886074C>T-
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly)8291DYSFUncertain significance933715192RCV000513482|RCV000822123|RCV001834648; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827188609971886099NC_000002.11:g.71886099A>GClinGen:CA49765139CN517202 not provided;
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)8291DYSFConflicting interpretations of pathogenicity62145939RCV000080294|RCV000279905|RCV000351217|RCV000538106|RCV001271545|RCV001795106; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271886100718861002:g.71886100G>AClinGen:CA147764C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)8291DYSFConflicting interpretations of pathogenicity752946123RCV000778625|RCV002477780|RCV003230588; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MedGen:CN169327188611071886110NC_000002.11:g.71886110C>T-
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)8291DYSFConflicting interpretations of pathogenicity571364996RCV000648011|RCV001563808|RCV001563809|RCV001563807; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827188611971886119NC_000002.11:g.71886119A>GClinGen:CA1707160C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)8291DYSFPathogenic398123789RCV000178524|RCV000790739|RCV000794872|RCV003466985; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827188612571886125NC_000002.11:g.71886125C>TClinGen:CA222174C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)8291DYSFConflicting interpretations of pathogenicity538781815RCV000287690|RCV000791060|RCV001062505|RCV001271546|RCV002518115; NMedGen:C3661900|MedGen:CN239317|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327188612671886126NC_000002.11:g.71886126G>AClinGen:CA1707161CN169374 not specified;
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)8291DYSFLikely pathogenic2094828804RCV001264131; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271886140718861402:g.71886140C>T-
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)8291DYSFConflicting interpretations of pathogenicity772664716RCV000647992|RCV000726189|RCV001271547; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271886156718861562:g.71886156A>GClinGen:CA1707164C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)8291DYSFConflicting interpretations of pathogenicity141704244RCV000080297|RCV000548178|RCV001271548|RCV001824600|RCV002222381|RCV003466986; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN239317|MedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271886163718861632:g.71886163G>TClinGen:CA222176C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)8291DYSFUncertain significance141704244RCV000387010|RCV001241552|RCV001828247; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271886163718861632:g.71886163G>AClinGen:CA1707168CN169374 not specified;
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)8291DYSFLikely pathogenic-1RCV002309767; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718877017188770171887701-
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)8291DYSFConflicting interpretations of pathogenicity138357301RCV000558437|RCV000592365|RCV001271549; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271887714718877142:g.71887714A>GClinGen:CA1707194C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)8291DYSFConflicting interpretations of pathogenicity146384562RCV000245703|RCV000711564|RCV001085998|RCV001274849|RCV001449590|RCV002466461; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS25271887715718877152:g.71887715T>CClinGen:CA275275C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys)8291DYSFLikely benign759505768RCV000551520|RCV001834795; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271887748718877482:g.71887748A>GClinGen:CA1707199C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)8291DYSFPathogenic/Likely pathogenic2094861411RCV001264132|RCV002541614; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271887758718877582:g.71887758C>A-
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)8291DYSFConflicting interpretations of pathogenicity144383140RCV000348647|RCV001240482|RCV001833403|RCV002494891; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271887760718877602:g.71887760C>TClinGen:CA1707202CN169374 not specified;
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)8291DYSFConflicting interpretations of pathogenicity142301132RCV000260045|RCV001274850|RCV001088177; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327188776171887761NC_000002.11:g.71887761G>TClinGen:CA1707204C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=)8291DYSFLikely benign142301132RCV001277420|RCV001499751; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271887761718877612:g.71887761G>A-
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=)8291DYSFLikely benign963646326RCV001472481|RCV001832270; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271887762718877622:g.71887762C>T-
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)8291DYSFPathogenic786200896RCV000007053|RCV000338549|RCV000806281|RCV003466823; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827188776771887771NC_000002.11:g.71887767_71887771delinsCCCCClinGen:CA253904,OMIM:603009.0005C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)8291DYSFPathogenic1156805286RCV001731181|RCV001780437|RCV002496058; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:2536012718877677188776771887766-
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)8291DYSFConflicting interpretations of pathogenicity147056383RCV000080298|RCV000669830|RCV000864868|RCV001086563; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271887771718877712:g.71887771G>AClinGen:CA222178C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)8291DYSFLikely pathogenic868779799RCV001264133; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271887777718877772:g.71887777G>T-
NM_001130987.2(DYSF):c.5003+1249G>T8291DYSFPathogenic886042110RCV000353624|RCV000591407|RCV001855080|RCV003469219; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271889030718890302:g.71889030G>TClinGen:CA10603819C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5004-37C>T8291DYSFBenign2303599RCV000250447|RCV000839722|RCV001527269|RCV001660238|RCV001660239; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189136171891361NC_000002.11:g.71891361C>TClinGen:CA1707217CN169374 not specified;
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)8291DYSFConflicting interpretations of pathogenicity151276652RCV000178575|RCV001079331|RCV001835707; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891404718914042:g.71891404C>TClinGen:CA245726C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)8291DYSFUncertain significance748528655RCV001563810|RCV001563811|RCV001563812; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784002718914277189142771891427-
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)8291DYSFLikely pathogenic-1RCV002309037; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718914407189144171891439-
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)8291DYSFLikely benign2094956948RCV001499806|RCV001832654; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718914467189144671891446-
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val)8291DYSFUncertain significance886042492RCV000338363|RCV001352545|RCV001828189; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891450718914502:g.71891450C>GClinGen:CA10604309CN169374 not specified;
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del)8291DYSFUncertain significance1163037004RCV000673615; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891464718914662:g.71891464_71891466del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)8291DYSFConflicting interpretations of pathogenicity149087116RCV000356086|RCV001081951|RCV001274103; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891488718914882:g.71891488C>TClinGen:CA1707241C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser)8291DYSFUncertain significance375068646RCV000354786|RCV000792613|RCV001828216; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189148971891489NC_000002.11:g.71891489G>AClinGen:CA1707243CN169374 not specified;
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)8291DYSFPathogenic-1RCV002287918; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718914907189150971891490-
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)8291DYSFConflicting interpretations of pathogenicity143059463RCV000670528|RCV001247777|RCV001507566|RCV002477502|RCV002271559; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 271891496718914962:g.71891496C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn)8291DYSFUncertain significance781415745RCV001215615|RCV001833881; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891504718915042:g.71891504G>A-
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)8291DYSFPathogenic/Likely pathogenic1057519132RCV000416117|RCV000984169|RCV001384057|RCV003470372; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271891531718915312:g.71891531_71891531delClinGen:CA16043769C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)8291DYSFConflicting interpretations of pathogenicity141137410RCV000310014|RCV000362344|RCV000388999|RCV000493108|RCV000986770|RCV001079670|RCV001526431; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:271891537718915372:g.71891537G>TClinGen:CA1707253C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)8291DYSFConflicting interpretations of pathogenicity771735871RCV000554512|RCV001834796|RCV001508442; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN51720227189154071891540NC_000002.11:g.71891540C>TClinGen:CA1707255C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)8291DYSFLikely benign138472236RCV000532679|RCV001834797; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189154171891541NC_000002.11:g.71891541G>AClinGen:CA1707257C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)8291DYSFConflicting interpretations of pathogenicity753279446RCV000668653|RCV002507163|RCV002532078|RCV003459599; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MOND271891544718915442:g.71891544G>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5156_5174+4dup8291DYSFPathogenic786205082RCV000007054; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189154771891548NC_000002.11:g.71891550_71891572dupClinGen:CA253905,OMIM:603009.0006C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)8291DYSFConflicting interpretations of pathogenicity753176482RCV001563908|RCV001563907|RCV001563909|RCV002569021; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070732718915527189155271891552-
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)8291DYSFPathogenic/Likely pathogenic758992291RCV001264134|RCV003145501|RCV003399036|RCV003469493; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MedGen:C3661900|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600271891555718915552:g.71891555C>T-
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)8291DYSFLikely pathogenic-1RCV002307085; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718915617189156271891560-
NM_001130987.2(DYSF):c.5174+2T>C8291DYSFLikely pathogenic1553412826RCV000673134|RCV003459640; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271891570718915702:g.71891570T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5174+6_5174+7dup8291DYSFUncertain significance1553412837RCV000669967; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891572718915732:g.71891572_71891573insGT-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5174+5G>A8291DYSFPathogenic/Likely pathogenic745891180RCV000007057|RCV001781198|RCV001851715|RCV002298436|RCV003466824; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427189157371891573NC_000002.11:g.71891573G>AClinGen:CA253906,OMIM:603009.0008C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5174+8G>A8291DYSFLikely benign1573054048RCV001457432|RCV001827112; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271891576718915762:g.71891576G>A-
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala)8291DYSFUncertain significance146153532RCV000538423|RCV001834798; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892297718922972:g.71892297G>CClinGen:CA1707283C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu)8291DYSFConflicting interpretations of pathogenicity-1RCV003074963|RCV003340619; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189230071892300NC_000002.11:g.71892300C>T-
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)8291DYSFLikely pathogenic-1RCV002307253; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718923107189231071892310-
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)8291DYSFPathogenic/Likely pathogenic863225021RCV000201092|RCV000553055|RCV000723532|RCV002509296|RCV003468915; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427189231171892311NC_000002.11:g.71892311C>TClinGen:CA279083,UniProtKB:O75923#VAR_057871C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)8291DYSFPathogenic/Likely pathogenic779987458RCV000648020|RCV000672247|RCV003469178; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271892312718923122:g.71892312G>AClinVar:424774,ClinGen:CA351294,UniProtKB:O75923#VAR_024870C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)8291DYSFLikely pathogenic-1RCV003307365; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189231271892312-
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)8291DYSFPathogenic/Likely pathogenic1558771348RCV000758200|RCV000808887|RCV003461013; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827189231671892316NC_000002.11:g.71892317del-
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)8291DYSFPathogenic/Likely pathogenic886044422RCV000291296|RCV000726461|RCV001859715; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271892317718923172:g.71892317C>TClinGen:CA10606735C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)8291DYSFLikely benign758206608RCV001035975|RCV001827215; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892323718923232:g.71892323C>T-
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)8291DYSFConflicting interpretations of pathogenicity149408006RCV000595675|RCV001243854|RCV001829645; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892333718923332:g.71892333A>TClinGen:CA1707293CN169374 not specified;
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe)8291DYSFLikely benign575920691RCV001274851|RCV001068212; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271892344718923442:g.71892344C>T-
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=)8291DYSFLikely benign1573061003RCV000980130|RCV001832276; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892352718923522:g.71892352C>T-
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu)8291DYSFUncertain significance199827126RCV001277421|RCV002542870|RCV002480888; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0271892353718923532:g.71892353C>G-
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=)8291DYSFLikely benign762447573RCV001439533|RCV001826997; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892355718923552:g.71892355G>A-
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)8291DYSFLikely pathogenic1342179740RCV001264135; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892356718923562:g.71892356C>T-
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)8291DYSFLikely pathogenic-1RCV002307158; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718923667189236771892365-
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)8291DYSFLikely pathogenic2094975129RCV001264255; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892368718923682:g.71892368A>T-
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)8291DYSFLikely pathogenic-1RCV002310120; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718923727189237271892371-
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)8291DYSFLikely pathogenic-1RCV003338182|RCV003466068; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827189237771892392-
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe)8291DYSFUncertain significance755108809RCV000329796|RCV000688227|RCV001274104; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892381718923812:g.71892381A>TClinGen:CA1707305C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)8291DYSFLikely pathogenic-1RCV002310053; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718923827189238271892382-
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)8291DYSFConflicting interpretations of pathogenicity148541407RCV000302512|RCV000547122|RCV001274105|RCV001531488; NMedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271892383718923832:g.71892383C>TClinGen:CA1707306C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)8291DYSFConflicting interpretations of pathogenicity957111625RCV000695255|RCV001274106|RCV002493198|RCV003163191; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:027189238471892384NC_000002.11:g.71892384G>A-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro)8291DYSFUncertain significance746919714RCV000328882|RCV000557258|RCV001833407; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892386718923862:g.71892386A>CClinGen:CA1707307C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)8291DYSFLikely benign757240900RCV000796972|RCV001830714; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892392718923922:g.71892392C>T-
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)8291DYSFConflicting interpretations of pathogenicity147678255RCV000689268|RCV000711566|RCV001274852|RCV003278732; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271892393718923932:g.71892393G>AClinGen:CA1707309C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)8291DYSFLikely pathogenic-1RCV002306561; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718924107189241071892410-
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)8291DYSFLikely pathogenic2094975881RCV001264256; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892413718924132:g.71892413G>T-
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)8291DYSFLikely pathogenic2094976185RCV001264257; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892425718924252:g.71892425G>T-
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)8291DYSFPathogenic/Likely pathogenic762398889RCV001058448|RCV003152748|RCV003467792; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271892428718924282:g.71892428G>T-
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)8291DYSFLikely pathogenic2094976441RCV001264258; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271892434718924342:g.71892434G>T-
NM_001130987.2(DYSF):c.5317+1G>A8291DYSFPathogenic/Likely pathogenic773386253RCV000647996|RCV000733066|RCV000669143|RCV002499105; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 27189243571892435NC_000002.11:g.71892435G>AClinGen:CA1707318C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5317+6C>G8291DYSFUncertain significance1289453214RCV001349669|RCV001825953; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718924407189244071892440-
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)8291DYSFPathogenic121908961RCV000007065; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271894506718945062:g.71894506A>GClinGen:CA253911,OMIM:603009.0014C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)8291DYSFConflicting interpretations of pathogenicity145272777RCV000374736|RCV000778917|RCV000664874|RCV001329706|RCV001563739; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784271894521718945212:g.71894521C>AClinGen:CA1707338C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser)8291DYSFUncertain significance1573078295RCV000811137|RCV001830772; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271894524718945242:g.71894524A>G-
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)8291DYSFConflicting interpretations of pathogenicity545645581RCV000665182|RCV000711567|RCV002531059; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271894550718945502:g.71894550C>TClinGen:CA1707345C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)8291DYSFConflicting interpretations of pathogenicity531935195RCV000647987|RCV001276860|RCV003144428; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271894551718945512:g.71894551G>AClinGen:CA1707346C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg)8291DYSFUncertain significance-1RCV002287922; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718945637189456371894563-
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala)8291DYSFUncertain significance753644501RCV001325837|RCV001831009; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718945667189456671894566-
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)8291DYSFConflicting interpretations of pathogenicity370866476RCV000178627|RCV000813699|RCV001826908|RCV003165373; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C095012327189457771894577NC_000002.11:g.71894577C>GClinGen:CA245812CN169374 not specified;
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)8291DYSFPathogenic2095035479RCV001034708; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271894593718945932:g.71894593_71894593del-
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met)8291DYSFUncertain significance773089790RCV001325082|RCV001830998|RCV002546124; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C09501232718945987189459871894598-
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)8291DYSFPathogenic/Likely pathogenic746243052RCV000294536|RCV000725796|RCV000817667|RCV003114448|RCV003469237; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427189460771894607NC_000002.11:g.71894607C>TClinGen:CA1707356C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)8291DYSFConflicting interpretations of pathogenicity148860301RCV000266653|RCV000725114|RCV000757894|RCV001141002|RCV001810440|RCV003463743; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:2536271894608718946082:g.71894608G>AClinGen:CA1707357CN169374 not specified;
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)8291DYSFConflicting interpretations of pathogenicity137855767RCV000289625|RCV001088815|RCV001274107; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271894612718946122:g.71894612C>TClinGen:CA1707358CN169374 not specified;
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)8291DYSFLikely pathogenic-1RCV002309064; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718946217189462171894620-
NM_001130987.2(DYSF):c.5457+1G>A8291DYSFLikely pathogenic1553414413RCV000672671; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271894646718946462:g.71894646G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5458-5C>T8291DYSFConflicting interpretations of pathogenicity780391061RCV000872858|RCV001276861|RCV002064714; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271895879718958792:g.71895879C>T-
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro)8291DYSFUncertain significance727503914RCV000153187|RCV001065646|RCV001826825; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271895909718959092:g.71895909T>CClinGen:CA233944CN169374 not specified;
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)8291DYSFUncertain significance145832952RCV000560446|RCV000666060|RCV000726065; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900271895914718959142:g.71895914C>TClinGen:CA1707399C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=)8291DYSFLikely benign759536240RCV001403285|RCV001825808; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271895916718959162:g.71895916G>A-
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)8291DYSFConflicting interpretations of pathogenicity139879284RCV000725163|RCV001085921|RCV001276862; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271895929718959292:g.71895929C>TClinGen:CA1707403C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln)8291DYSFUncertain significance762675721RCV000522727|RCV001046572|RCV001829500; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271895930718959302:g.71895930G>AClinGen:CA1707404CN169374 not specified;
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)8291DYSFPathogenic1558783870RCV000779597; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189594071895941NC_000002.11:g.71895942_71895943dup-
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)8291DYSFPathogenic/Likely pathogenic1553415211RCV000667881|RCV003459589; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271895953718959542:g.71895953_71895954insC-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)8291DYSFUncertain significance886056283RCV000269990|RCV000322753|RCV001141003|RCV001828335|RCV003144234; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271895954718959542:g.71895954C>TClinGen:CA10616119CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)8291DYSFUncertain significance369627849RCV000594588|RCV001563805|RCV001563806|RCV001563804|RCV002532622; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271895959718959592:g.71895959C>TClinGen:CA1707413CN169374 not specified;
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln)8291DYSFUncertain significance533781748RCV001344107|RCV001825900|RCV003145592; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C36619002718959607189596071895960-
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)8291DYSFPathogenic/Likely pathogenic786205084RCV000007073|RCV000723469|RCV001215439|RCV002476993; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427189597271895972NC_000002.11:g.71895972G>AClinGen:CA253922,OMIM:603009.0022C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5546+7T>C8291DYSFLikely benign1573092033RCV001276863|RCV001447514; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271895979718959792:g.71895979T>C-
NM_001130987.2(DYSF):c.5547-2A>G8291DYSFPathogenic/Likely pathogenic1238293747RCV001256196|RCV002272435; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896240718962402:g.71896240A>G-
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)8291DYSFConflicting interpretations of pathogenicity1280185461RCV000673454|RCV001141004; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271896252718962522:g.71896252C>T-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)8291DYSFPathogenic/Likely pathogenic886042584RCV000595427|RCV000725239|RCV003463747; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271896256718962562:g.71896256G>TClinGen:CA10604436C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys)8291DYSFLikely pathogenic1573094789RCV000855417; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896266718962662:g.71896266G>C-
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala)8291DYSFUncertain significance886043339RCV001325234|RCV001830370; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718962807189628071896280-
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro)8291DYSFUncertain significance768704227RCV001060004|RCV001832537; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896286718962862:g.71896286T>C-
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)8291DYSFUncertain significance768704227RCV001563952|RCV001563953|RCV001563951; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718962867189628671896286-
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe)8291DYSFUncertain significance1486691301RCV001563736|RCV001563737|RCV001563738; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784002718963007189630071896300-
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)8291DYSFConflicting interpretations of pathogenicity199649417RCV000648015|RCV001276864|RCV002222581|RCV003144430; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374|MedGen:CN51720227189630471896304NC_000002.11:g.71896304C>TClinGen:CA1707445C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)8291DYSFLikely pathogenic2095073059RCV001264259; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896312718963122:g.71896312A>T-
NM_001130987.2(DYSF):c.5621del (p.Met1874fs)8291DYSFPathogenic2152956005RCV002267704; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718963167189631671896315-
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)8291DYSFConflicting interpretations of pathogenicity577921112RCV000283009|RCV000726377|RCV001084464|RCV001276865; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896320718963202:g.71896320C>TClinGen:CA1707450CN169374 not specified;
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)8291DYSFPathogenic/Likely pathogenic398123794RCV000178688|RCV000790680|RCV001384247|RCV001814049|RCV003466987; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|27189632171896321NC_000002.11:g.71896321G>AClinGen:CA222190,UniProtKB:O75923#VAR_057874C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr)8291DYSFUncertain significance191052325RCV001238123|RCV001828896; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896325718963252:g.71896325T>C-
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)8291DYSFLikely pathogenic1320752132RCV001264260; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896333718963332:g.71896333A>T-
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)8291DYSFPathogenic1131692158RCV000494731; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896337718963372:g.71896337G>AClinGen:CA347223179C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5642+3dup8291DYSFUncertain significance1341734203RCV000671083|RCV001059454; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271896339718963402:g.71896339_71896340insA-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5643-15A>G8291DYSFUncertain significance-1RCV002289295; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718967207189672071896720-
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)8291DYSFLikely pathogenic1553416039RCV000677684|RCV000826104; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327189674271896742NC_000002.11:g.71896742del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)8291DYSFPathogenic-1RCV002465063; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:17840027189677271896773NC_000002.11:g.71896772_71896773insC-
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His)8291DYSFUncertain significance777543798RCV001047682|RCV001274108; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896781718967812:g.71896781T>C-
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=)8291DYSFLikely benign780923865RCV000906844|RCV001276866; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896790718967902:g.71896790C>T-
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser)8291DYSFUncertain significance886044266RCV000269161|RCV001246861|RCV001835767; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896796718967962:g.71896796G>AClinGen:CA10606551CN169374 not specified;
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala)8291DYSFUncertain significance1024524968RCV000498473|RCV001301589|RCV001276867; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896803718968032:g.71896803G>CClinGen:CA347223777CN169374 not specified;
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)8291DYSFPathogenic1233961202RCV001542524|RCV002568950; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070732718968107189681071896810-
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp)8291DYSFUncertain significance-1RCV003340859; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189681171896811-
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)8291DYSFUncertain significance543664648RCV000711568|RCV001830579; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827189681271896812NC_000002.11:g.71896812A>G-
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)8291DYSFLikely pathogenic-1RCV002289459; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682718968147189681571896814-
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys)8291DYSFUncertain significance886043028RCV000273558|RCV000692816|RCV001833345; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896818718968182:g.71896818G>AClinGen:CA10605015C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser)8291DYSFUncertain significance1336670524RCV001004987|RCV001860571; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271896819718968192:g.71896819G>T-
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)8291DYSFConflicting interpretations of pathogenicity762258343RCV000317613|RCV000754725|RCV002521880; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271896838718968382:g.71896838T>CClinGen:CA1707485CN169374 not specified;
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)8291DYSFPathogenic1573100371RCV000850237|RCV003338828; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271896849718968492:g.71896849_71896849del-
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)8291DYSFLikely pathogenic-1RCV002306860; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482718968507189685071896850-
NM_001130987.2(DYSF):c.5784+1G>A8291DYSFLikely pathogenic909564120RCV000669228|RCV003459608; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271896877718968772:g.71896877G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5785-41C>T8291DYSFBenign2559081RCV000250122|RCV000839730|RCV001527270|RCV001660240|RCV001660241; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190128671901286NC_000002.11:g.71901286C>TClinGen:CA1707499CN169374 not specified;
NM_001130987.2(DYSF):c.5785-8C>T8291DYSFConflicting interpretations of pathogenicity201191038RCV000321544|RCV000348163|RCV000373833|RCV001081056|RCV001276868; NMedGen:CN239352|MedGen:CN517202|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271901319719013192:g.71901319C>TClinGen:CA1707507CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.5785-7G>A8291DYSFPathogenic753861836RCV000331428|RCV000485381|RCV001058932|RCV001788187|RCV003469228; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:102015|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:427190132071901320NC_000002.11:g.71901320G>AClinGen:CA1707510C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5785-1G>C8291DYSFLikely pathogenic751473506RCV000665467|RCV000823836|RCV003465443; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827190132671901326NC_000002.11:g.71901326G>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)8291DYSFPathogenic398123796RCV000305675|RCV000703813|RCV001274109|RCV003460753; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827190135471901355NC_000002.11:g.71901355AG[1]ClinGen:CA222195C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)8291DYSFPathogenic121908959RCV000007062|RCV000007063|RCV000007061|RCV000080312|RCV000808564|RCV003114177; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207027190137271901372NC_000002.11:g.71901372C>TClinGen:CA118412,OMIM:603009.0012C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=)8291DYSFLikely benign772521748RCV000246672|RCV000667569|RCV001442771; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327190138371901383NC_000002.11:g.71901383C>TClinGen:CA1707521C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)8291DYSFPathogenic1573138336RCV000855442; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271901392719013922:g.71901392G>A-
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)8291DYSFConflicting interpretations of pathogenicity750860886RCV000262181|RCV000648008|RCV001276869; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271901416719014162:g.71901416T>GClinGen:CA1707524C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5884+1G>A8291DYSFPathogenic/Likely pathogenic756689063RCV000733869|RCV000809651|RCV002290000|RCV003465667; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827190142771901427NC_000002.11:g.71901427G>A-
NM_001130987.2(DYSF):c.5884+6C>T8291DYSFConflicting interpretations of pathogenicity144355449RCV000874414|RCV001564800|RCV001830918; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271901432719014322:g.71901432C>T-
NM_001130987.2(DYSF):c.5885-16T>C8291DYSFBenign1863812RCV000080313|RCV001527271|RCV001664347|RCV001664346|RCV002055167; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070271906171719061712:g.71906171T>CClinGen:CA147771CN169374 not specified;
NM_001130987.2(DYSF):c.5885-1G>C8291DYSFLikely pathogenic771257070RCV000670990|RCV002532106|RCV003465504; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271906186719061862:g.71906186G>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser)8291DYSFUncertain significance775578484RCV001277422; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271906208719062082:g.71906208A>G-
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)8291DYSFConflicting interpretations of pathogenicity144116735RCV000648022|RCV001276870|RCV001311193; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C366190027190621071906210NC_000002.11:g.71906210C>TClinGen:CA1707548C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys)8291DYSFUncertain significance-1RCV002287924; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682719062147190621471906214-
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=)8291DYSFLikely benign375483537RCV000951034|RCV001827040; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271906218719062182:g.71906218C>G-
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)8291DYSFUncertain significance1573176526RCV001004960; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271906223719062232:g.71906223C>T-
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)8291DYSFLikely benign759198745RCV000802505|RCV001274110; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271906234719062342:g.71906234G>A-
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)8291DYSFPathogenic-1RCV002287920; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682719062457190624571906245-
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)8291DYSFPathogenic398123797RCV000179104|RCV000260297|RCV001217217|RCV003466988; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271906254719062572:g.71906254_71906257delClinGen:CA222196C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)8291DYSFBenign/Likely benign17718530RCV000080315|RCV000282030|RCV000316074|RCV000576374|RCV001274111|RCV001142849|RCV001527272|RCV001664348; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C455271906278719062782:g.71906278A>CClinGen:CA147772CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val)8291DYSFUncertain significance1189744662RCV001309603|RCV001830253; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682719062857190628571906285-
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)8291DYSFLikely pathogenic-1RCV003234975; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190629571906295-
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)8291DYSFPathogenic1064794020RCV000484686|RCV000537475|RCV000668514; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271906303719063032:g.71906303C>TClinGen:CA16617750C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)8291DYSFPathogenic/Likely pathogenic1057521141RCV000424011|RCV000671182|RCV001861509|RCV003470383; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271906327719063272:g.71906327C>TClinGen:CA16604254C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val)8291DYSFUncertain significance201784424RCV000520965|RCV001829524|RCV002528266; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271906337719063372:g.71906337C>TClinGen:CA1707565CN169374 not specified;
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)8291DYSFLikely pathogenic-1RCV002306626; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482719063627190636271906361-
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)8291DYSFUncertain significance138936064RCV000080317|RCV000665259|RCV001244440|RCV002222382; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374271906365719063652:g.71906365G>AClinGen:CA222198C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)8291DYSFLikely pathogenic-1RCV002308216; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482719081397190813971908138-
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly)8291DYSFUncertain significance773799968RCV000516630|RCV001276871; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190815371908153NC_000002.11:g.71908153A>GClinGen:CA1707593CN169374 not specified;
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)8291DYSFPathogenic398123799RCV000080318|RCV000179122|RCV000547387|RCV002243709|RCV003466989; NMedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427190816271908163NC_000002.11:g.71908163dupClinGen:CA222200C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)8291DYSFLikely pathogenic2095289978RCV001264261; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271908176719081762:g.71908176G>T-
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp)8291DYSFUncertain significance149357145RCV000487679|RCV000793266|RCV001835751; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190818271908182NC_000002.11:g.71908182C>TClinGen:CA1707598CN517202 not provided;
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)8291DYSFConflicting interpretations of pathogenicity115407852RCV000356385|RCV000487973|RCV000675073|RCV001085395|RCV001449928|RCV001138099|RCV003448906; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN239317|EFO:EFO_0000407,Human Phenoty271908183719081832:g.71908183G>AClinGen:CA1707599C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp)8291DYSFLikely pathogenic1395588065RCV001064810|RCV001836103; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271908192719081922:g.71908192G>A-
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp)8291DYSFUncertain significance200921075RCV000373696|RCV001229509|RCV001833390; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271908200719082002:g.71908200C>TClinGen:CA1707601CN169374 not specified;
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)8291DYSFUncertain significance886043489RCV000381542|RCV000648021|RCV001828235|RCV002494860; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454271908206719082062:g.71908206G>AClinGen:CA10605579C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)8291DYSFLikely pathogenic-1RCV002310294; NMONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:454482719082067190820771908205-
NM_001130987.2(DYSF):c.6173+4A>C8291DYSFUncertain significance749127704RCV000540666|RCV001834799; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271908244719082442:g.71908244A>CClinGen:CA1707609C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6174-9C>T8291DYSFConflicting interpretations of pathogenicity201070766RCV000265268|RCV000726633|RCV001084824|RCV001276872; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909651719096512:g.71909651C>TClinGen:CA1707635C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6174-2A>G8291DYSFLikely pathogenic1451269647RCV000666947; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909658719096582:g.71909658A>G-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)8291DYSFConflicting interpretations of pathogenicity143762717RCV000352290|RCV000401726|RCV000724811|RCV001080306|RCV001276873|RCV003243003; NMedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271909660719096602:g.71909660G>AClinGen:CA246386C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)8291DYSFUncertain significance370286628RCV000293751|RCV000346364|RCV001138100|RCV001833465; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190966171909661NC_000002.11:g.71909661C>TClinGen:CA1707637CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)8291DYSFConflicting interpretations of pathogenicity147263499RCV000315999|RCV000540445|RCV001081387|RCV001449592|RCV001833308; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909666719096662:g.71909666C>TClinGen:CA1707641C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala)8291DYSFUncertain significance778611782RCV001827566|RCV001663455; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C36619002719096947190969471909694-
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile)8291DYSFUncertain significance557683788RCV000555176|RCV001834800|RCV001755865; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202271909708719097082:g.71909708G>AClinGen:CA1707651C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp)8291DYSFUncertain significance200990851RCV000724069|RCV001833085|RCV001852228; NMedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271909724719097242:g.71909724C>TClinGen:CA246384CN169374 not specified;
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)8291DYSFPathogenic/Likely pathogenic121908955RCV000007051|RCV000007052|RCV000080320|RCV000815134|RCV001813961; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:27190972771909727NC_000002.11:g.71909727C>TClinGen:CA222203,UniProtKB:O75923#VAR_012311,OMIM:603009.0004C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)8291DYSFConflicting interpretations of pathogenicity185617318RCV000533199|RCV001755866|RCV001834801; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909733719097332:g.71909733C>TClinGen:CA1707654C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)8291DYSFLikely pathogenic1553422709RCV000666916|RCV003465457; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271909737719097372:g.71909737G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)8291DYSFPathogenic1553422723RCV000670348; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909738719097382:g.71909738G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3])8291DYSFUncertain significance749619435RCV000295646|RCV000805748|RCV001828249; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190974071909741NC_000002.11:g.71909745ATCCTCTTCATC[3]ClinGen:CA1707656CN169374 not specified;
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])8291DYSFUncertain significance749619435RCV000664872|RCV001058537|RCV001559835|RCV002493079; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; 271909741719097522:g.71909741_71909752del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=)8291DYSFLikely benign1308247360RCV001499370|RCV001832652; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682719097417190974171909741-
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)8291DYSFConflicting interpretations of pathogenicity150834671RCV000308010|RCV000407709|RCV000543402|RCV000725370|RCV001276874|RCV001449586; NMONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271909742719097422:g.71909742A>GClinGen:CA222205C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)8291DYSFUncertain significance-1RCV002472092|RCV002571478; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327190974871909748NC_000002.11:g.71909748C>T-
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=)8291DYSFLikely benign539234900RCV000873230|RCV001274112; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909750719097502:g.71909750C>T-
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del)8291DYSFUncertain significance1553422765RCV000671956; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909752719097542:g.71909752_71909754del-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=)8291DYSFLikely benign561011151RCV001276875|RCV001399767; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073271909768719097682:g.71909768C>T-
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=)8291DYSFLikely benign754852745RCV001418821|RCV001831465; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2682719097807190978071909780-
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)8291DYSFConflicting interpretations of pathogenicity549673939RCV000729231|RCV001087446|RCV001276876; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:26827190979871909798NC_000002.11:g.71909798C>T-
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)8291DYSFConflicting interpretations of pathogenicity746663568RCV000673203|RCV001035887|RCV003144473|RCV003465524; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448271909799719097992:g.71909799G>A-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)8291DYSFUncertain significance149732545RCV000329318|RCV000695824|RCV000672952; NMedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909806719098062:g.71909806C>TClinGen:CA1707669C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)8291DYSFLikely benign139267208RCV000912278|RCV001276877; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271909807719098072:g.71909807G>A-
NM_001130987.2(DYSF):c.6321+15C>T8291DYSFBenign/Likely benign2559082RCV000080322|RCV000360522|RCV000407720|RCV001138102|RCV001664350|RCV001527273|RCV001664349; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25271909822719098222:g.71909822C>TClinGen:CA147774CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.6322-10C>G8291DYSFLikely benign755660226RCV000920176|RCV001825852; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271913574719135742:g.71913574C>G-
NM_001130987.2(DYSF):c.6322-7C>T8291DYSFLikely benign749806665RCV000930220|RCV001276878; NMONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268271913577719135772:g.71913577C>T-
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser)8291DYSFUncertain significance1442725303RCV001277423|RCV002542871; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123271913585719135852:g.71913585A>G-
NM_001130987.2(DYSF):c.*107T>A8291DYSFConflicting interpretations of pathogenicity11903223RCV000351649|RCV000986771|RCV001138535|RCV001723875; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900271913729719137292:g.71913729T>AClinGen:CA10606673CN169374 not specified;
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)4000LMNAPathogenic1651341099RCV001200924|RCV003117843; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:6474611561042301561042301:g.156104230C>T-
MSeqDR Portal