MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:8133
Name:Miyoshi myopathy
Definition:
Alternative IDs:DO:DOID:0070198|OMIM:254130
ParentIDs:MESH:D009133|MESH:D049310
TreeNumbers:C05.651.534.500.074/C537480 |C10.597.613.612/C537480 |C10.668.491.175.500.074/C537480 |C16.320.577.074/C537480 |C23.300.070.500/C537480 |C23.888.592.608.612/C537480
Synonyms:Miyoshi distal myopathy |Miyoshi Muscular Dystrophy 1 |MIYOSHI MYOPATHY |Mmd1 |Muscular dystrophy, distal, late onset, autosomal recessive |Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C537480
MeSH: C537480
OMIM: 254130;
MSeqDR LSDB:  
Genes: DYSF;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003581Adult onsetHP:0040282
3 HP:0009072Decreased Achilles reflex
4 HP:0200101Decreased/absent ankle reflexes
5 HP:0003791Deposits immunoreactive to beta-amyloid proteinHP:0040283
6 HP:0003551Difficulty climbing stairs
7 HP:0003693Distal amyotrophy
8 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
9 HP:0003236Elevated serum creatine phosphokinase
10 HP:0001425Heterogeneous
11 HP:0007340Lower limb muscle weakness
12 HP:0010546Muscle fibrillation
13 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001130987.2(DYSF):c.-30G>A8291DYSFBenignrs61333801RCV000841191|RCV001527298; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827169394371693943GA2:g.71693943G>A-
NM_001130987.2(DYSF):c.55C>T (p.Arg19Trp)8291DYSFUncertain significancers931174858RCV001336581; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827169402771694027CT71694027-
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)8291DYSFLikely pathogenicrs2082829594RCV001264239; 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:17840027170803971708039AT2:g.71708039A>T-
NM_001130987.2(DYSF):c.147+1G>A8291DYSFPathogenicrs2082833010RCV001249863; 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:17840027170806971708069GA2:g.71708069G>A-
NM_001130987.2(DYSF):c.148-91C>T8291DYSFBenign-1RCV001527299|RCV001712950; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN51720227170891871708918CT71708918-
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)8291DYSFLikely pathogenicrs2082945195RCV001264240; 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:17840027170905471709054GT2:g.71709054G>T-
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)8291DYSFPathogenicrs121908957RCV000007058|RCV000681612; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827170906471709065TGATNC_000002.11:g.71709064_71709065delinsATClinGen:CA253907,OMIM:603009.0009C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.239+20G>A8291DYSFBenignrs12470028RCV000080251|RCV001527300|RCV002055160; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327170912071709120GA2:g.71709120G>AClinGen:CA147733CN169374 not specified;
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln)8291DYSFUncertain significancers370745710RCV000728766|RCV001563731|RCV001563733|RCV001862157|RCV001563732; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:227173037371730373GANC_000002.11:g.71730373G>A-
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)8291DYSFPathogenicrs746315830RCV000254734|RCV001004980|RCV001089583|RCV001814129|RCV001855002; NMedGen:CN517202|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,MedGe27173043871730438CTNC_000002.11:g.71730438C>TClinGen:CA10588346C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.356del (p.Val119fs)8291DYSFPathogenicrs398123782RCV000178878|RCV000598847|RCV001336577|RCV001382515; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327173894771738947GTGNC_000002.11:g.71738947delClinGen:CA222158C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu)8291DYSFUncertain significancers139654844RCV001140451|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:26827173902271739022CT2:g.71739022C>T-
NM_001130987.2(DYSF):c.460+82C>T8291DYSFBenign/Likely benignrs79084610RCV000837038|RCV001527157; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827173913371739133CT2:g.71739133C>T-
NM_001130987.2(DYSF):c.460+150A>G8291DYSFBenignrs57229705RCV000839010|RCV001527158; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827173920171739201AG2:g.71739201A>G-
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)8291DYSFConflicting interpretations of pathogenicityrs34999029RCV000080300|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:CN51720227174089771740897CA2:g.71740897C>AClinGen:CA147766,UniProtKB:O75923#VAR_024853C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.760-17C>T8291DYSFBenignrs61104194RCV000080324|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:207027174273671742736CT2:g.71742736C>TClinGen:CA147775CN169374 not specified;
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)8291DYSFLikely pathogenicrs759065714RCV001264241; 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:17840027174277171742771GT2:g.71742771G>T-
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)8291DYSFConflicting interpretations of pathogenicityrs150917600RCV000656845|RCV000706741|RCV001276722|RCV001336579; 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:4544827174279671742796AC2:g.71742796A>CClinGen:CA247174C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)8291DYSFUncertain significancers777785781RCV000648001|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:CN517227174287771742877AG2:g.71742877A>GClinGen:CA1705487C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.888+11T>C8291DYSFBenign/Likely benignrs13428076RCV000080329|RCV000310323|RCV000404162|RCV001142309|RCV001527160|RCV001664353|RCV001664354; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:27174289271742892TC2:g.71742892T>CClinGen:CA147776CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.889-104G>A8291DYSFBenignrs13417592RCV000841681|RCV001527161; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174320671743206GA2:g.71743206G>A-
NM_001130987.2(DYSF):c.889-68G>A8291DYSFBenignrs28500662RCV000831709|RCV001527162; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174324271743242GA2:g.71743242G>A-
NM_001130987.2(DYSF):c.889-34C>T8291DYSFLikely benignrs115184725RCV000244215|RCV001548570|RCV001527163; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174327671743276CT2:g.71743276C>TClinGen:CA1705506CN169374 not specified;
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)8291DYSFPathogenicrs121908963RCV000007069|RCV000594920; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN51720227174415871744158GT2:g.71744158G>TOMIM:603009.0018,ClinGen:CA253918,UniProtKB:O75923#VAR_057841C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1003-73A>G8291DYSFBenignrs11675897RCV000839014|RCV001527165; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174723571747235AG2:g.71747235A>G-
NM_001130987.2(DYSF):c.1033+1G>A8291DYSFPathogenicrs201869739RCV000173782|RCV000262780|RCV000801493|RCV001810422; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427174733971747339GANC_000002.11:g.71747339G>AClinGen:CA222224C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1033+94G>T8291DYSFBenignrs11687223RCV000839065|RCV001527166; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174743271747432GT2:g.71747432G>T-
NM_001130987.2(DYSF):c.1034-68T>C8291DYSFBenignrs12713755RCV000839068|RCV001527167; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174785171747851TC2:g.71747851T>C-
NM_001130987.2(DYSF):c.1034-64C>T8291DYSFBenignrs55695728RCV000841701|RCV001527168; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174785571747855CT2:g.71747855C>T-
NM_001130987.2(DYSF):c.1034-20G>A8291DYSFBenignrs12713756RCV000080336|RCV001527169|RCV001664356|RCV001664355|RCV002055169; 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:207027174789971747899GA2:g.71747899G>AClinGen:CA147778CN169374 not specified;
NM_001130987.2(DYSF):c.1149+1G>A8291DYSFPathogenic/Likely pathogenicrs398123763RCV000174082|RCV000711544|RCV000700616|RCV000763501; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45427174803571748035GANC_000002.11:g.71748035G>AClinGen:CA222120C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1149+54C>T8291DYSFBenignrs56343439RCV000831710|RCV001527171; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827174808871748088CT2:g.71748088C>T-
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)8291DYSFPathogenic/Likely pathogenicrs758180890RCV000255632|RCV000509478|RCV000763502|RCV000817143; 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:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20727175342571753425CTNC_000002.11:g.71753425C>TClinGen:CA1705654C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)8291DYSFLikely pathogenicrs2087900330RCV001264242; 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:17840027175346871753468TA2:g.71753468T>A-
NM_001130987.2(DYSF):c.1277-48A>G8291DYSFBenignrs4852800RCV000251347|RCV000839069|RCV001660232|RCV001527207|RCV001660233; NMedGen:CN169374|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:26827175538071755380AGNC_000002.11:g.71755380A>GClinGen:CA1705689CN169374 not specified;
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)8291DYSFConflicting interpretations of pathogenicityrs147244033RCV000593985|RCV001087072|RCV001449931; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827175543271755432CT2:g.71755432C>TClinGen:CA1705694CN169374 not specified;
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)8291DYSFConflicting interpretations of pathogenicityrs769254776RCV000347517|RCV000385756|RCV001139798|RCV001526418; NMONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827175543871755438CTNC_000002.11:g.71755438C>TClinGen:CA1705696CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys)8291DYSFUncertain significance-1RCV001563947|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:26827176218371762183CG71762183-
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)8291DYSFLikely pathogenicrs2089169741RCV001264243; 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:17840027176219671762196CT2:g.71762196C>T-
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)8291DYSFConflicting interpretations of pathogenicityrs141818764RCV000300999|RCV000358093|RCV000711546|RCV001084088|RCV001449924|RCV001276725|RCV001820812; NMONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:27176221771762217AG2:g.71762217A>GClinGen:CA1705737C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1449+13C>T8291DYSFBenignrs4852801RCV000080231|RCV000265947|RCV000304770|RCV001140565|RCV001527208|RCV001664336|RCV001664335; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:27176223271762232CT2:g.71762232C>TClinGen:CA147720CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.1450-88A>G8291DYSFBenignrs4852802RCV000839070|RCV001527209; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827176231071762310AG2:g.71762310A>G-
NM_001130987.2(DYSF):c.1494-163G>T8291DYSFBenignrs79617374RCV000839071|RCV001527210; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827176612471766124GT2:g.71766124G>T-
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)8291DYSFConflicting interpretations of pathogenicityrs121908962RCV000007066|RCV000342783|RCV001048974; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327177820371778203GA2:g.71778203G>AClinGen:CA253913,UniProtKB:O75923#VAR_057850,OMIM:603009.0015C1850808 254130 Miyoshi muscular dystrophy 1;
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)8291DYSFLikely pathogenicrs2090909751RCV001264244; 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:17840027177821171778211CA2:g.71778211C>A-
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)8291DYSFUncertain significancers777489323RCV000647986|RCV000765696|RCV001662702|RCV001835043; NMONDO: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:268|MedGen:CN517227177821271778212TCNC_000002.11:g.71778212T>CClinGen:CA1705873C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1625del (p.Asn542fs)8291DYSFLikely pathogenic-1RCV001808839; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827177821871778218CAC71778217-
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)8291DYSFUncertain significancers559177313RCV001213616|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:17840027177823371778233CT2:g.71778233C>T-
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)8291DYSFUncertain significancers755829878RCV000844895|RCV001825702|RCV001326184; 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:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MOND27177876271778762GA2:g.71778762G>A-
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)8291DYSFPathogenic/Likely pathogenicrs886042633RCV000259897|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:207027177880671778806CTNC_000002.11:g.71778806C>TClinGen:CA10604502C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)8291DYSFUncertain significancers149386446RCV000648023|RCV000598052|RCV001526744|RCV001274446; NMONDO: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:26827177884271778842CT2:g.71778842C>TClinGen:CA1705929C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1807-24C>G8291DYSFBenignrs2303595RCV000248998|RCV000836878|RCV001527211|RCV001660234|RCV001660235; NMedGen:CN169374|MedGen:CN517202|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:26827178011771780117CGNC_000002.11:g.71780117C>GClinGen:CA1705954CN169374 not specified;
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)8291DYSFPathogenicrs121908953RCV000007047|RCV000301362; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN51720227178020171780201CTNC_000002.11:g.71780201C>TClinGen:CA253901,OMIM:603009.0001C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)8291DYSFPathogenicrs746873768RCV000201076|RCV000255415|RCV000531181|RCV000763503; 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; 27178022271780222CT2:g.71780222C>TClinGen:CA277606C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)8291DYSFBenign/Likely benignrs567956595RCV000946075|RCV001271780|RCV001563801|RCV001563743; 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:4544827178023971780239CT2:g.71780239C>T-
NM_001130987.2(DYSF):c.1919A>C (p.Asn640Thr)8291DYSFUncertain significancers886043196RCV001526763|RCV000259299; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN51720227178025371780253AC2:g.71780253A>CClinGen:CA10605228CN169374 not specified;
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)8291DYSFConflicting interpretations of pathogenicityrs141867897RCV000274204|RCV000710126|RCV001084090|RCV001329088; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827178026571780265TC2:g.71780265T>CClinGen:CA1705983C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.1985-116T>C8291DYSFBenignrs2303597RCV000839076|RCV001527214; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827178082171780821TC2:g.71780821T>C-
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)8291DYSFLikely pathogenicrs2091142154RCV001264245; 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:17840027178096171780961GA2:g.71780961G>A-
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)8291DYSFConflicting interpretations of pathogenicityrs139754493RCV000176201|RCV000292466|RCV000328757|RCV000487642|RCV001085988|RCV001563948|RCV001563950|RCV001563949; NMedGen:CN169374|MONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MedGen:CN239352|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0011721,MedGe27178097271780972AG2:g.71780972A>GClinGen:CA242074C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)8291DYSFLikely pathogenicrs2091144091RCV001264246; 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:17840027178099171780991CG2:g.71780991C>G-
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)8291DYSFConflicting interpretations of pathogenicityrs201239189RCV000392895|RCV001088299|RCV001271786|RCV001563802|RCV001563803; 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:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178427178313371783133GA2:g.71783133G>AClinGen:CA1706066CN169374 not specified;
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)8291DYSFUncertain significance-1RCV001563902|RCV001563903|RCV001563944; 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:17840027178317771783177CT71783177-
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)8291DYSFConflicting interpretations of pathogenicityrs138654170RCV000176395|RCV000765697|RCV001085145|RCV001271790; 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:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207027178900071789000GA2:g.71789000G>AClinGen:CA242326C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2410-117A>G8291DYSFBenign/Likely benignrs72827550RCV000836880|RCV001527215; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179107171791071AG2:g.71791071A>G-
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)8291DYSFPathogenicrs121908956RCV000007055|RCV000007056|RCV000790785|RCV000807968; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327179120471791204CGNC_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.2563A>T (p.Lys855Ter)8291DYSFLikely pathogenicrs2091951931RCV001263671; 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:17840027179134171791341AT2:g.71791341A>T-
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)8291DYSFPathogenicrs2092204417RCV001207233|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:227179508371795083TA2:g.71795083T>A-
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)8291DYSFLikely pathogenicrs2092205152RCV001263673; 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:17840027179509371795093AT2:g.71795093A>T-
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)8291DYSFLikely pathogenicrs2092208616RCV001263674; 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:17840027179515171795151CA2:g.71795151C>A-
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)8291DYSFLikely pathogenicrs2092209337RCV001263675; 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:17840027179515971795159GT2:g.71795159G>T-
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)8291DYSFLikely pathogenicrs2092210085RCV001263676; 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:17840027179516571795165GT2:g.71795165G>T-
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)8291DYSFLikely pathogenicrs2092211777RCV001263677; 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:17840027179518971795189AT2:g.71795189A>T-
NM_001130987.2(DYSF):c.2697+1G>A8291DYSFPathogenic/Likely pathogenicrs140108514RCV000080255|RCV000176550|RCV000233433|RCV000697172|RCV000763504; NMedGen:CN517202|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:178427179521371795213GA2:g.71795213G>AClinGen:CA222141,ClinVar:424775,ClinVar:424829C2931687 Dysferlinopathy;
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)8291DYSFPathogenicrs727503909RCV000007072|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:CN51720227179543571795435TGT2:g.71795435_71795435delClinGen:CA233930,OMIM:603009.0021C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)8291DYSFLikely pathogenicrs2092231526RCV001263678; 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:17840027179545771795457TA2:g.71795457T>A-
NM_001130987.2(DYSF):c.2864+1G>A8291DYSFPathogenic/Likely pathogenicrs199954546RCV000512137|RCV001263253|RCV001217776; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327179546971795469GANC_000002.11:g.71795469G>AClinGen:CA1706298C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2864+84G>C8291DYSFBenignrs62143855RCV000839080|RCV001527217; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179555271795552GC2:g.71795552G>C-
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)8291DYSFPathogenicrs202218890RCV000262612|RCV000725415|RCV000763505|RCV000791498; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|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,O27179701471797014CTNC_000002.11:g.71797014C>TClinGen:CA1706331C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn)8291DYSFUncertain significance-1RCV001563814|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:17840027179705371797053TA71797053-
NM_001130987.2(DYSF):c.2979+112A>C8291DYSFBenignrs10183967RCV000839079|RCV001527218; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179717671797176AC2:g.71797176A>C-
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)8291DYSFConflicting interpretations of pathogenicityrs142404822RCV000726965|RCV001081802|RCV001449654|RCV001834885; NMedGen: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:26827179736171797361CT2:g.71797361C>TClinGen:CA1706362CN169374 not specified;
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)8291DYSFLikely pathogenicrs763925689RCV001263962; 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:17840027179739271797392GT2:g.71797392G>T-
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)8291DYSFPathogenic/Likely pathogenicrs750028300RCV000666237|RCV000763506; NMONDO: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:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179740771797407TC2:g.71797407T>C-C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)8291DYSFLikely pathogenicrs2092343409RCV001263963; 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:17840027179741471797414GA2:g.71797414G>A-
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)8291DYSFPathogenicrs28937581RCV000007059|RCV000176869|RCV000790765|RCV001232546; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327179743071797430GTNC_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.3086-17G>A8291DYSFBenignrs3764971RCV000080262|RCV001527219|RCV001664341|RCV001664340|RCV002055162; 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:207027179771271797712GA2:g.71797712G>AClinGen:CA147742CN169374 not specified;
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)8291DYSFUncertain significancers144598063RCV000361984|RCV000693473|RCV000665677|RCV001329090; 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:4544827179781871797818CT2:g.71797818C>TClinGen:CA1706454C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)8291DYSFConflicting interpretations of pathogenicityrs754763074RCV000592866|RCV001563740|RCV001563742|RCV001563741|RCV001854033; NMedGen:CN517202|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:207027179781971797819GA2:g.71797819G>AClinGen:CA1706455CN169374 not specified;
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)8291DYSFLikely pathogenicrs2092369130RCV001263964; 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:17840027179782271797822GA2:g.71797822G>A-
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)8291DYSFPathogenic/Likely pathogenicrs121908958RCV000007060|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:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MO27179783471797834GANC_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.3228+205C>A8291DYSFLikely benign-1RCV001527220; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179807671798076CA71798076-
NM_001130987.2(DYSF):c.3228+208A>C8291DYSFLikely benign-1RCV001527221; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827179807971798079AC71798079-
NM_001130987.2(DYSF):c.3229-61G>C8291DYSFBenignrs57041989RCV000841228|RCV001527222; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827180126771801267GC2:g.71801267G>C-
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)8291DYSFLikely pathogenicrs1666836481RCV001263965; 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:17840027180134071801340GT2:g.71801340G>T-
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)8291DYSFPathogenicrs1252415299RCV001263966|RCV001880071; 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:20707327180135271801352GT2:g.71801352G>T-
NM_001130987.2(DYSF):c.3403-121G>C8291DYSFBenignrs3811611RCV000839708|RCV001527258; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827181660271816602GC2:g.71816602G>C-
NM_001130987.2(DYSF):c.3427del (p.Glu1143fs)8291DYSFPathogenic-1RCV001731180; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827181674771816747TGT71816746-
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)8291DYSFPathogenicrs398123781RCV000382340|RCV000535509|RCV000763089|RCV000984168; NMedGen:CN517202|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:227181734271817343TGAANC_000002.11:g.71817342_71817343delinsAAClinGen:CA222156C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)8291DYSFLikely pathogenicrs2093222376RCV001263967; 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:17840027181740371817403AT2:g.71817403A>T-
NM_001130987.2(DYSF):c.3575-17C>T8291DYSFBenignrs13421969RCV000080272|RCV001527259|RCV001795102|RCV002055164; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327182567771825677CT2:g.71825677C>TClinGen:CA147745CN169374 not specified;
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)8291DYSFLikely pathogenicrs2093464314RCV001263968; 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:17840027182577071825770GA2:g.71825770G>A-
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)8291DYSFPathogenic/Likely pathogenicrs143393575RCV001263969|RCV001780216; 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:CN51720227182579171825791CA2:g.71825791C>A-
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)8291DYSFConflicting interpretations of pathogenicityrs148858485RCV000274574|RCV000725546|RCV001083505|RCV001276446|RCV001509578; NMedGen:CN169374|MedGen: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:4544827182579771825797CT2:g.71825797C>TClinGen:CA1706662C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)8291DYSFLikely pathogenicrs773773555RCV001264128; 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:17840027182579871825798GT2:g.71825798G>T-
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)8291DYSFConflicting interpretations of pathogenicityrs150942486RCV000727399|RCV000765698|RCV001563734|RCV001563735|RCV001272834|RCV001485096; NMedGen:CN517202|MONDO: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:0024545,MedGen:C4551973,OMIM:254130,O27182581471825814CT2:g.71825814C>TClinGen:CA1706667CN169374 not specified;
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)8291DYSFConflicting interpretations of pathogenicityrs146970014RCV000177777|RCV000656846|RCV001084687|RCV001336578; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827182788971827889CT2:g.71827889C>TClinGen:CA244680CN517202 not provided;
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)8291DYSFLikely pathogenicrs1462064763RCV001264129; 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:17840027182797071827970AT2:g.71827970A>T-
NM_001130987.2(DYSF):c.3928-85G>T8291DYSFBenignrs1529408RCV000839716|RCV001527260; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827182982171829821GT2:g.71829821G>T-
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)8291DYSFConflicting interpretations of pathogenicityrs121908954RCV000007049|RCV000153183|RCV000658868|RCV000681611|RCV000509353|RCV001137897|RCV001563901; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN239317|MONDO:MONDO:0011721,MedGen:C127182992471829924AG2:g.71829924A>GClinGen:CA179991,UniProtKB:O75923#VAR_012309,OMIM:603009.0003C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)8291DYSFConflicting interpretations of pathogenicityrs147950418RCV000658869|RCV000691904|RCV001329091; NMedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827183843871838438CG2:g.71838438C>GClinGen:CA244881C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4221+96C>T8291DYSFBenignrs2016605RCV000829642|RCV001527264; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827183885271838852CT2:g.71838852C>T-
NM_001130987.2(DYSF):c.4221+119A>G8291DYSFBenignrs1814333RCV000829643|RCV001527265; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827183887571838875AG2:g.71838875A>G-
NM_001130987.2(DYSF):c.4222-20G>A8291DYSFBenignrs111935215RCV000080285|RCV001527266|RCV001795105|RCV002055165; NMedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327183975171839751GA2:g.71839751G>AClinGen:CA147759CN169374 not specified;
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)8291DYSFConflicting interpretations of pathogenicityrs138268837RCV000494287|RCV000516505|RCV000672486|RCV001085319|RCV001449591; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827183980271839802CG2:g.71839802C>GClinGen:CA1706944C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)8291DYSFPathogenicrs576130413RCV001264130|RCV001389481; 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:20707327184049071840490GT2:g.71840490G>T-
NM_001130987.2(DYSF):c.4528-56A>G8291DYSFBenignrs84181RCV000839718|RCV001527267; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827187103971871039AG2:g.71871039A>G-
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)8291DYSFPathogenicrs886042635RCV000299421|RCV001815304; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827187114371871143GTNC_000002.11:g.71871143G>TClinGen:CA10604504C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.4626+43A>G8291DYSFBenignrs84182RCV000254207|RCV000839719|RCV001660237|RCV001527268|RCV001660236; NMedGen:CN169374|MedGen: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:17840027187123671871236AGNC_000002.11:g.71871236A>GClinGen:CA1707077CN169374 not specified;
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)8291DYSFUncertain significancers757820496RCV000664633|RCV000696171|RCV001810464|RCV001784229; NMONDO: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; MONDO:MONDO:001127188329671883296AG2:g.71883296A>G-C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)8291DYSFUncertain significancers571364996RCV000648011|RCV001563808|RCV001563807|RCV001563809; 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:17840027188611971886119AGNC_000002.11:g.71886119A>GClinGen:CA1707160C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)8291DYSFLikely pathogenicrs2094828804RCV001264131; 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:17840027188614071886140CT2:g.71886140C>T-
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)8291DYSFConflicting interpretations of pathogenicityrs146384562RCV000245703|RCV000711564|RCV001085998|RCV001274849|RCV001449590; NMedGen:CN169374|MedGen: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:4544827188771571887715TC2:g.71887715T>CClinGen:CA275275C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)8291DYSFLikely pathogenicrs2094861411RCV001264132; 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:17840027188775871887758CA2:g.71887758C>A-
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)8291DYSFPathogenic-1RCV001731181|RCV001780437; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN51720227188776771887767AGA71887766-
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)8291DYSFLikely pathogenicrs868779799RCV001264133; 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:17840027188777771887777GT2:g.71887777G>T-
NM_001130987.2(DYSF):c.5004-37C>T8291DYSFBenignrs2303599RCV000250447|RCV000839722|RCV001527269|RCV001660239|RCV001660238; NMedGen:CN169374|MedGen: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:17840027189136171891361CTNC_000002.11:g.71891361C>TClinGen:CA1707217CN169374 not specified;
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)8291DYSFUncertain significance-1RCV001563810|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:17840027189142771891427TA71891427-
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)8291DYSFUncertain significance-1RCV001563907|RCV001563909|RCV001563908; NMONDO: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:26827189155271891552CG71891552-
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)8291DYSFLikely pathogenicrs758992291RCV001264134; 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:17840027189155571891555CT2:g.71891555C>T-
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter)8291DYSFLikely pathogenicrs1342179740RCV001264135; 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:17840027189235671892356CT2:g.71892356C>T-
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)8291DYSFLikely pathogenicrs2094975129RCV001264255; 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:17840027189236871892368AT2:g.71892368A>T-
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)8291DYSFUncertain significancers147678255RCV000660419|RCV000689268|RCV000711566|RCV001274852; 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|MedGen:CN517227189239371892393GA2:g.71892393G>AClinGen:CA1707309C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)8291DYSFLikely pathogenicrs2094975881RCV001264256; 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:17840027189241371892413GT2:g.71892413G>T-
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)8291DYSFLikely pathogenicrs2094976185RCV001264257; 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:17840027189242571892425GT2:g.71892425G>T-
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)8291DYSFLikely pathogenicrs2094976441RCV001264258; 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:17840027189243471892434GT2:g.71892434G>T-
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)8291DYSFConflicting interpretations of pathogenicityrs145272777RCV000374736|RCV000664874|RCV000778917|RCV001563739|RCV001329706; 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:45427189452171894521CA2:g.71894521C>AClinGen:CA1707338C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)8291DYSFPathogenicrs2095035479RCV001034708; 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:26827189459371894593GAG2:g.71894593_71894593del-
NM_001130987.2(DYSF):c.5458-2A>C8291DYSFPathogenic/Likely pathogenicrs398123792RCV000395191|RCV001201873|RCV001535733; NMedGen:CN517202|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:227189588271895882ACNC_000002.11:g.71895882A>CClinGen:CA222184C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)8291DYSFUncertain significancers369627849RCV000594588|RCV001563804|RCV001563805|RCV001563806; 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:17840027189595971895959CT2:g.71895959C>TClinGen:CA1707413CN169374 not specified;
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)8291DYSFUncertain significance-1RCV001563951|RCV001563952|RCV001563953; 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:17840027189628671896286TA71896286-
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe)8291DYSFUncertain significance-1RCV001563738|RCV001563736|RCV001563737; 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:26827189630071896300CT71896300-
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)8291DYSFLikely pathogenicrs2095073059RCV001264259; 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:17840027189631271896312AT2:g.71896312A>T-
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)8291DYSFLikely pathogenicrs1320752132RCV001264260; 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:17840027189633371896333AT2:g.71896333A>T-
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)8291DYSFLikely pathogenicrs1024524968RCV000786071; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827189680371896803GA2:g.71896803G>A-
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)8291DYSFPathogenicrs1573100371RCV000850237; NMONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827189684971896849CTC2:g.71896849_71896849del-
NM_001130987.2(DYSF):c.5785-824C>T8291DYSFPathogenicrs1285082850RCV000594297|RCV001731152|RCV001853996; NMedGen:CN517202|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:20707327190050371900503CT2:g.71900503C>TClinGen:CA658795804C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5785-41C>T8291DYSFBenignrs2559081RCV000250122|RCV000839730|RCV001527270|RCV001660240|RCV001660241; NMedGen:CN169374|MedGen:CN517202|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:26827190128671901286CTNC_000002.11:g.71901286C>TClinGen:CA1707499CN169374 not specified;
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)8291DYSFPathogenicrs121908959RCV000007062|RCV000007063|RCV000007061|RCV000080312|RCV000808564; 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:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207027190137271901372CTNC_000002.11:g.71901372C>TClinGen:CA118412,OMIM:603009.0012C1850889 253601 Limb-girdle muscular dystrophy, type 2B;
NM_001130987.2(DYSF):c.5885-16T>C8291DYSFBenignrs1863812RCV000080313|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:207027190617171906171TC2:g.71906171T>CClinGen:CA147771CN169374 not specified;
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)8291DYSFBenign/Likely benignrs17718530RCV000080315|RCV000282030|RCV000316074|RCV000576374|RCV001142849|RCV001274111|RCV001527272|RCV001664348; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400; MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MONDO:MONDO:0009676,MedGen:C127190627871906278AC2:g.71906278A>CClinGen:CA147772CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)8291DYSFLikely pathogenicrs2095289978RCV001264261; 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:17840027190817671908176GT2:g.71908176G>T-
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)8291DYSFConflicting interpretations of pathogenicityrs115407852RCV000356385|RCV000675073|RCV000487973|RCV001085395|RCV001138099|RCV001449928; NMedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN239317|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:4544827190818371908183GA2:g.71908183G>AClinGen:CA1707599C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)8291DYSFConflicting interpretations of pathogenicityrs147263499RCV000315999|RCV000540445|RCV001081387|RCV001449592|RCV001833308; NMedGen:CN169374|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:26827190966671909666CT2:g.71909666C>TClinGen:CA1707641C2931687 Dysferlinopathy;
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)8291DYSFPathogenic/Likely pathogenicrs121908955RCV000007052|RCV000007051|RCV000080320|RCV000815134|RCV001813961; NMONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:27190972771909727CTNC_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.6321+15C>T8291DYSFBenign/Likely benignrs2559082RCV000080322|RCV000360522|RCV000407720|RCV001138102|RCV001527273|RCV001664350|RCV001664349; NMedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:CN230453,OMIM:PS254130, Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:27190982271909822CT2:g.71909822C>TClinGen:CA147774CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
MSeqDR Portal