Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu) | 825 | CAPN3 | Conflicting interpretations of pathogenicity | 200759807 | RCV001200923|RCV002261300; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 15 | 42700421 | 42700421 | | | 15:g.42700421G>C | - | | |
NM_003494.4(DYSF):c.1A>G (p.Met1Val) | 8291 | DYSF | Likely pathogenic | 1259378167 | RCV000671280; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71681129 | 71681129 | | | 2:g.71681129A>G | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_003494.4(DYSF):c.2T>C (p.Met1Thr) | 8291 | DYSF | Likely pathogenic | 1459713589 | RCV000668555|RCV001377517; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71681130 | 71681130 | | | 2:g.71681130T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn) | 8291 | DYSF | Uncertain significance | 1354334539 | RCV000598153|RCV001041107|RCV001273958; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71681145 | 71681145 | | | 2:g.71681145T>A | ClinGen:CA347205929 | CN169374 not specified; | |
NM_003494.4(DYSF):c.27C>G (p.Ala9=) | 8291 | DYSF | Likely benign | 771520271 | RCV000939808|RCV001832143; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71681155 | 71681155 | | | | - | | |
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs) | 8291 | DYSF | Likely pathogenic | 1553495983 | RCV000675027; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71681192 | 71681193 | | | 2:g.71681192_71681193insCCTA | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_003494.4(DYSF):c.75C>T (p.Ser25=) | 8291 | DYSF | Likely benign | 375772222 | RCV000669660|RCV001466774; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71681203 | 71681203 | | | | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.46AAG[1] (p.Lys17del) | 8291 | DYSF | Likely benign | 1553501109 | RCV000674971; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71694017 | 71694019 | | | 2:g.71694017_71694019del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 539484245 | RCV001244563|RCV001829933|RCV003145481; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71708019 | 71708019 | | | 2:g.71708019A>C | - | | |
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) | 8291 | DYSF | Pathogenic | 398123764 | RCV000175751|RCV001050376|RCV001273959|RCV003415847|RCV003466977; | N | 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 | 2 | 71708030 | 71708031 | | | NC_000002.11:g.71708031_71708032del | ClinGen:CA222121 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter) | 8291 | DYSF | Likely pathogenic | 2082829594 | RCV001264239; | N | 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 | 2 | 71708039 | 71708039 | | | 2:g.71708039A>T | - | | |
NM_001130987.2(DYSF):c.126C>T (p.Ser42=) | 8291 | DYSF | Likely benign | 369755508 | RCV000905829|RCV001832038; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71708047 | 71708047 | | | 2:g.71708047C>T | - | | |
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 374203339 | RCV000536797|RCV000711545|RCV001835762; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71708048 | 71708048 | | | 2:g.71708048G>A | ClinGen:CA1705230 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 772240035 | RCV000596018|RCV000814681|RCV001829688|RCV002532670; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71708053 | 71708053 | | | NC_000002.11:g.71708053C>A | ClinGen:CA1705231 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.147+1G>A | 8291 | DYSF | Pathogenic | 2082833010 | RCV001249863; | N | 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 | 2 | 71708069 | 71708069 | | | 2:g.71708069G>A | - | | |
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) | 8291 | DYSF | Pathogenic | 886042641 | RCV000323798|RCV000695592|RCV000984260; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71709020 | 71709020 | | | 2:g.71709020G>A | ClinGen:CA10604511 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 566595009 | RCV001303550|RCV001830198|RCV002070129; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71709037 | 71709037 | | | 71709037 | - | | |
NM_001130987.2(DYSF):c.181del (p.Asp61fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306608; | N | 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 | 2 | 71709041 | 71709041 | | | 71709040 | - | | |
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter) | 8291 | DYSF | Likely pathogenic | 2082945195 | RCV001264240; | N | 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 | 2 | 71709054 | 71709054 | | | 2:g.71709054G>T | - | | |
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) | 8291 | DYSF | Pathogenic | 121908957 | RCV000007058|RCV000681612; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71709064 | 71709065 | | | NC_000002.11:g.71709064_71709065delinsAT | ClinGen:CA253907,OMIM:603009.0009 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 886042878 | RCV000596973|RCV000725459; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71709070 | 71709070 | | | 2:g.71709070T>G | ClinGen:CA10604804 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 200957354 | RCV000305839|RCV000406068|RCV000591502|RCV000711551|RCV001080690|RCV001276713; | N | MONDO: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:268 | 2 | 71709086 | 71709086 | | | NC_000002.11:g.71709086G>A | ClinGen:CA1705260 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.240-7C>T | 8291 | DYSF | Likely benign | 746083673 | RCV000907855|RCV001276714; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730337 | 71730337 | | | 2:g.71730337C>T | - | | |
NM_001130987.2(DYSF):c.240-1G>A | 8291 | DYSF | Likely pathogenic | 1553518087 | RCV000671668; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730343 | 71730343 | | | 2:g.71730343G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.246G>A (p.Leu82=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 756463088 | RCV000178192|RCV000810796|RCV001832021; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730350 | 71730350 | | | NC_000002.11:g.71730350G>A | ClinGen:CA245222 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) | 8291 | DYSF | Likely benign | 550993602 | RCV000925381|RCV001273960; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730353 | 71730353 | | | 2:g.71730353G>C | - | | |
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) | 8291 | DYSF | Pathogenic | 794727636 | RCV000178195|RCV000724670|RCV001040341|RCV003462284; | N | MONDO: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 | 2 | 71730372 | 71730372 | | | NC_000002.11:g.71730372C>T | ClinGen:CA275254 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.269G>A (p.Arg90Gln) | 8291 | DYSF | Uncertain significance | 370745710 | RCV000728766|RCV001563732|RCV001563731|RCV001563733|RCV001862157; | N | MedGen: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:2070 | 2 | 71730373 | 71730373 | | | NC_000002.11:g.71730373G>A | - | | |
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup) | 8291 | DYSF | Uncertain significance | 1172863089 | RCV001054733|RCV001827344|RCV003145302; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71730382 | 71730383 | | | 2:g.71730382_71730383insCGCCACCCCTAGTCTGTCCGC | - | | |
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) | 8291 | DYSF | Uncertain significance | 759171890 | RCV000516754|RCV001137474|RCV001273961; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730384 | 71730384 | | | NC_000002.11:g.71730384G>A | ClinGen:CA1705301 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro) | 8291 | DYSF | Likely benign | 759171890 | RCV000647989|RCV001835044; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730384 | 71730384 | | | NC_000002.11:g.71730384G>C | ClinGen:CA1705302 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg) | 8291 | DYSF | Uncertain significance | 762400168 | RCV000648006|RCV001276715|RCV001766397|RCV003352968; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 2 | 71730393 | 71730393 | | | NC_000002.11:g.71730393A>C | ClinGen:CA1705304 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.298_300del (p.Ala100del) | 8291 | DYSF | Uncertain significance | 1316197789 | RCV000667363; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730400 | 71730402 | | | 2:g.71730400_71730402del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) | 8291 | DYSF | Likely benign | 763710844 | RCV000973078|RCV001276716; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730401 | 71730401 | | | 2:g.71730401C>T | - | | |
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201834175 | RCV000647984|RCV001253301; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730412 | 71730412 | | | 2:g.71730412A>G | ClinGen:CA1705307 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.316del (p.Leu106fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309628; | N | 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 | 2 | 71730415 | 71730415 | | | 71730414 | - | | |
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) | 8291 | DYSF | Likely benign | 750834799 | RCV000978325|RCV001836049|RCV003424513; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71730416 | 71730416 | | | 2:g.71730416C>G | - | | |
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) | 8291 | DYSF | Likely benign | 1203731908 | RCV001418904|RCV001836398; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71730419 | 71730419 | | | 71730419 | - | | |
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306545; | N | 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 | 2 | 71730424 | 71730433 | | | 71730424 | - | | |
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308052; | N | 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 | 2 | 71730425 | 71730426 | | | 71730424 | - | | |
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) | 8291 | DYSF | Pathogenic | 746315830 | RCV000254734|RCV001004980|RCV001089583|RCV001814129|RCV001855002; | N | MedGen: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,MedGe | 2 | 71730438 | 71730438 | | | NC_000002.11:g.71730438C>T | ClinGen:CA10588346 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.342del (p.Ala116fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886042379 | RCV000377821|RCV000593550|RCV000532444|RCV002502101|RCV003469224; | N | 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:253601, Orphanet:268; | 2 | 71730446 | 71730446 | | | 2:g.71730446_71730446del | ClinGen:CA10604146 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr) | 8291 | DYSF | Uncertain significance | 748951363 | RCV000702215|RCV000733854|RCV001825384|RCV003338741; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71738937 | 71738937 | | | NC_000002.11:g.71738937G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 199677396 | RCV000733873|RCV001038268|RCV001273962|RCV002536504; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71738941 | 71738941 | | | NC_000002.11:g.71738941C>T | - | | |
NM_001130987.2(DYSF):c.356del (p.Val119fs) | 8291 | DYSF | Pathogenic | 398123782 | RCV000178878|RCV000598847|RCV001336577|RCV001382515|RCV002498412; | N | MONDO: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; | 2 | 71738947 | 71738947 | | | NC_000002.11:g.71738947del | ClinGen:CA222158 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.362A>C (p.Gln121Pro) | 8291 | DYSF | Uncertain significance | -1 | RCV003340924; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71738953 | 71738953 | | | | - | | |
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 372573603 | RCV001567007|RCV001832773|RCV002568441; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71738968 | 71738968 | | | 71738968 | - | | |
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 377056951 | RCV000242037|RCV000725503|RCV001087267|RCV001276717; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71738969 | 71738969 | | | 2:g.71738969G>A | ClinGen:CA1705341 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) | 8291 | DYSF | Benign/Likely benign | 34603128 | RCV000080278|RCV000309578|RCV000366553|RCV000711557|RCV001273963|RCV001139688|RCV001527156|RCV001664344; | N | MedGen: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: | 2 | 71738987 | 71738987 | | | 2:g.71738987C>T | ClinGen:CA147749 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 773837400 | RCV000415918|RCV000675087|RCV001844111|RCV002521923; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71738995 | 71738995 | | | 2:g.71738995C>T | ClinGen:CA1705344 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) | 8291 | DYSF | Likely benign | 1182440042 | RCV001832203|RCV002546045; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71738999 | 71738999 | | | 2:g.71738999C>T | - | | |
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307163; | N | 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 | 2 | 71738999 | 71739000 | | | 71738999 | - | | |
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile) | 8291 | DYSF | Uncertain significance | 766841136 | RCV000543422|RCV001834793; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71739004 | 71739004 | | | NC_000002.11:g.71739004C>T | ClinGen:CA1705346 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.431del (p.Pro144fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307858|RCV003471326; | N | 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:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71739019 | 71739019 | | | 71739018 | - | | |
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139654844 | RCV000080288|RCV000274365|RCV000331836|RCV000647983|RCV001276718; | N | MedGen: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:268 | 2 | 71739022 | 71739022 | | | 2:g.71739022C>A | ClinGen:CA222166 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.431C>T (p.Pro144Leu) | 8291 | DYSF | Uncertain significance | 139654844 | RCV001140451|RCV001563956|RCV001563958|RCV001563957; | N | MONDO: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:268 | 2 | 71739022 | 71739022 | | | 2:g.71739022C>T | - | | |
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 542176164 | RCV000387377|RCV001510878|RCV001828264; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71739023 | 71739023 | | | 2:g.71739023G>A | ClinGen:CA1705349 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.460+1G>A | 8291 | DYSF | Likely pathogenic | 1278864604 | RCV000665139|RCV000694014; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71739052 | 71739052 | | | 2:g.71739052G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.460+2T>G | 8291 | DYSF | Benign | 750356247 | RCV000264961|RCV000986769; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71739053 | 71739053 | | | 2:g.71739053T>G | ClinGen:CA1705352 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.461-1G>A | 8291 | DYSF | Uncertain significance | 1553520795 | RCV000670889; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740369 | 71740369 | | | 2:g.71740369G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 200970855 | RCV000301411|RCV001082288|RCV001833344; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740851 | 71740851 | | | 2:g.71740851G>A | ClinGen:CA1705380 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.561del (p.Gly188fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309171; | N | 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 | 2 | 71740853 | 71740853 | | | 71740852 | - | | |
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 151054827 | RCV000593695|RCV000818446|RCV001276719; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740857 | 71740857 | | | NC_000002.11:g.71740857G>A | ClinGen:CA1705382 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) | 8291 | DYSF | Uncertain significance | 763104746 | RCV001311192|RCV001349515|RCV001830259; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740869 | 71740869 | | | 71740869 | - | | |
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 142265349 | RCV001243658|RCV001835179|RCV003145476; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71740884 | 71740884 | | | 2:g.71740884A>C | - | | |
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 34999029 | RCV000080300|RCV000531528|RCV001273964|RCV001449921|RCV001699034; | N | MedGen: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:C3661900 | 2 | 71740897 | 71740897 | | | 2:g.71740897C>A | ClinGen:CA147766,UniProtKB:O75923#VAR_024853 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 398123791 | RCV000080301|RCV001086592|RCV001826719; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740898 | 71740898 | | | 2:g.71740898G>A | ClinGen:CA222182 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) | 8291 | DYSF | Pathogenic | 1553521017 | RCV000672170|RCV001855574|RCV003459635; | N | 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 | 2 | 71740914 | 71740914 | | | 2:g.71740914C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143562525 | RCV000342489|RCV000793369|RCV001273965; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740920 | 71740920 | | | NC_000002.11:g.71740920G>A | ClinGen:CA1705397 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp) | 8291 | DYSF | Uncertain significance | 768820090 | RCV000670207; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740924 | 71740924 | | | 2:g.71740924G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.636G>A (p.Pro212=) | 8291 | DYSF | Likely benign | 185711021 | RCV000951647|RCV001276720; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740928 | 71740928 | | | 2:g.71740928G>A | - | | |
NM_001130987.2(DYSF):c.640del (p.Ala214fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307343; | N | 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 | 2 | 71740928 | 71740928 | | | 71740927 | - | | |
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser) | 8291 | DYSF | Uncertain significance | 759455142 | RCV000692486|RCV001830510; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740932 | 71740932 | | | NC_000002.11:g.71740932G>T | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309220; | N | 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 | 2 | 71740937 | 71740938 | | | 71740937 | - | | |
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu) | 8291 | DYSF | Likely benign | 752497222 | RCV000544711|RCV001829591; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740945 | 71740945 | | | NC_000002.11:g.71740945C>T | ClinGen:CA1705405 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) | 8291 | DYSF | Benign/Likely benign | 13407355 | RCV000080309|RCV000316737|RCV000373692|RCV000546064|RCV001273966|RCV001795107; | N | MedGen: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:C3661900 | 2 | 71740953 | 71740953 | | | 2:g.71740953C>G | ClinGen:CA147767,UniProtKB:O75923#VAR_024854 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu) | 8291 | DYSF | Uncertain significance | 756925596 | RCV001056590|RCV001273967; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740957 | 71740957 | | | 2:g.71740957C>T | - | | |
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) | 8291 | DYSF | Benign/Likely benign | 35392229 | RCV000080311|RCV000281402|RCV000320140|RCV000533998|RCV001273968|RCV001795108; | N | MedGen: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:C3661900 | 2 | 71740958 | 71740958 | | | 2:g.71740958T>C | ClinGen:CA147769 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu) | 8291 | DYSF | Likely benign | 201980470 | RCV000548747|RCV001829592; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740969 | 71740969 | | | NC_000002.11:g.71740969C>T | ClinGen:CA1705412 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 376293526 | RCV000247945|RCV000725510|RCV001082722|RCV001273969; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740982 | 71740982 | | | NC_000002.11:g.71740982C>T | ClinGen:CA1705418 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) | 8291 | DYSF | Likely benign | 775544808 | RCV001502585|RCV001832661; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740985 | 71740985 | | | 71740985 | - | | |
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307876; | N | 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 | 2 | 71740989 | 71740989 | | | 71740989 | - | | |
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) | 8291 | DYSF | Pathogenic | 373585652 | RCV000179424|RCV000711569|RCV000693273|RCV003114244|RCV003474680; | N | MONDO: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:4 | 2 | 71740998 | 71740998 | | | NC_000002.11:g.71740998C>T | ClinGen:CA222201 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly) | 8291 | DYSF | Uncertain significance | 373585652 | RCV001244959|RCV001835219; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71740998 | 71740998 | | | 2:g.71740998C>G | - | | |
NM_001130987.2(DYSF):c.707G>A (p.Arg236Gln) | 8291 | DYSF | Uncertain significance | 528386282 | RCV002225155|RCV003093885; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71740999 | 71740999 | | | 71740999 | - | | |
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150029218 | RCV000284809|RCV000376994|RCV000553818|RCV000732976|RCV001276721; | N | 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:268 | 2 | 71741010 | 71741010 | | | NC_000002.11:g.71741010A>G | ClinGen:CA1705427 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.730del (p.Leu244fs) | 8291 | DYSF | Pathogenic | 1553521119 | RCV000627074; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71741022 | 71741022 | | | NC_000002.11:g.71741022del | ClinGen:CA658795806 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308195; | N | 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 | 2 | 71741034 | 71741034 | | | 71741034 | - | | |
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 147876220 | RCV000593233|RCV001240944|RCV001834886; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71741038 | 71741038 | | | 2:g.71741038C>T | ClinGen:CA1705435 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.759+1G>C | 8291 | DYSF | Pathogenic | 398123800 | RCV000179423|RCV000790678|RCV001386483|RCV002498413|RCV003474681; | N | MONDO: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:454 | 2 | 71741052 | 71741052 | | | NC_000002.11:g.71741052G>C | ClinGen:CA222207 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.760-17C>T | 8291 | DYSF | Benign | 61104194 | RCV000080324|RCV001527159|RCV001664352|RCV001664351|RCV002055168; | N | MedGen: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:2070 | 2 | 71742736 | 71742736 | | | 2:g.71742736C>T | ClinGen:CA147775 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.760-7_760-6delinsATCC | 8291 | DYSF | Uncertain significance | 1553521641 | RCV000666976; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71742746 | 71742747 | | | 2:g.71742746_71742747insTCC | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter) | 8291 | DYSF | Pathogenic | -1 | RCV002287923; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71742762 | 71742762 | | | 71742762 | - | | |
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150345121 | RCV000249294|RCV000532146|RCV000733997|RCV001833275; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71742765 | 71742765 | | | 2:g.71742765G>A | ClinGen:CA1705456 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter) | 8291 | DYSF | Likely pathogenic | 759065714 | RCV001264241; | N | 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 | 2 | 71742771 | 71742771 | | | 2:g.71742771G>T | - | | |
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) | 8291 | DYSF | Uncertain significance | 764849844 | RCV001247794|RCV001664781|RCV001835309|RCV002491844; | N | MONDO: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:454 | 2 | 71742778 | 71742778 | | | 2:g.71742778G>A | - | | |
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143053635 | RCV000598072|RCV000792953|RCV001535517|RCV003403397; | N | MedGen: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:MO | 2 | 71742787 | 71742787 | | | NC_000002.11:g.71742787C>T | ClinGen:CA1705463 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) | 8291 | DYSF | Pathogenic/Likely pathogenic | 141497053 | RCV000179859|RCV000984257|RCV001852238|RCV002265663|RCV003468872; | N | MedGen: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:4 | 2 | 71742790 | 71742790 | | | NC_000002.11:g.71742790G>A | ClinGen:CA275400,UniProtKB:O75923#VAR_057838 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 750724439 | RCV000288184|RCV000345514|RCV000363052|RCV000557862|RCV001273970; | N | MedGen: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:268 | 2 | 71742792 | 71742792 | | | 2:g.71742792G>A | ClinGen:CA1705466 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150917600 | RCV000656845|RCV000706741|RCV001276722|RCV001336579; | N | 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 | 2 | 71742796 | 71742796 | | | 2:g.71742796A>C | ClinGen:CA247174 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) | 8291 | DYSF | Uncertain significance | 1573658295 | RCV001004963; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71742843 | 71742843 | | | 2:g.71742843A>G | - | | |
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) | 8291 | DYSF | Pathogenic/Likely pathogenic | 398123802 | RCV000595897|RCV000790709|RCV001237531|RCV001814050|RCV003317083|RCV003466990; | N | 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:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745| | 2 | 71742844 | 71742844 | | | NC_000002.11:g.71742844C>T | ClinGen:CA222210 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) | 8291 | DYSF | Likely benign | 1454893867 | RCV000975703|RCV001827069; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71742845 | 71742845 | | | 2:g.71742845G>A | - | | |
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) | 8291 | DYSF | Pathogenic/Likely pathogenic | 149827237 | RCV000595594|RCV001254624|RCV001379021|RCV002502122|RCV003469232; | N | 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:253601, Orphanet:268; | 2 | 71742846 | 71742846 | | | 2:g.71742846C>T | ClinGen:CA1705479 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 140002194 | RCV000488274|RCV001142308|RCV002494838|RCV002518899|RCV001828197; | N | 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:268; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784 | 2 | 71742847 | 71742847 | | | NC_000002.11:g.71742847G>A | ClinGen:CA1705480 | | |
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) | 8291 | DYSF | Likely pathogenic | 1559053603 | RCV000757939; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71742868 | 71742868 | | | NC_000002.11:g.71742868C>G | - | | |
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) | 8291 | DYSF | Uncertain significance | 777785781 | RCV000648001|RCV001004972|RCV001563954|RCV001563955|RCV001756080; | N | 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:178400|MedGen:CN5172 | 2 | 71742877 | 71742877 | | | 2:g.71742877A>G | ClinGen:CA1705487 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) | 8291 | DYSF | Pathogenic | 794727851 | RCV000179815|RCV000724796; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71742879 | 71742879 | | | NC_000002.11:g.71742879G>T | ClinGen:CA275391 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.888+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 886044377 | RCV000597496|RCV000726446|RCV002518120|RCV003469247; | N | MONDO: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 | 2 | 71742882 | 71742882 | | | 2:g.71742882G>A | ClinGen:CA10606682 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs) | 8291 | DYSF | Pathogenic | 1553522104 | RCV000670937|RCV001784267|RCV002531269|RCV003465503; | N | MONDO: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 | 2 | 71743311 | 71743312 | | | 2:g.71743311_71743312del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) | 8291 | DYSF | Pathogenic | 1337417322 | RCV000792716|RCV001830689; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71743314 | 71743315 | | | 2:g.71743314_71743315del | - | | |
NM_001130987.2(DYSF):c.922del (p.Glu308fs) | 8291 | DYSF | Pathogenic | 1553522133 | RCV000591372|RCV000726952|RCV001867948|RCV002506415; | N | MONDO: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; | 2 | 71743340 | 71743340 | | | 2:g.71743340_71743340del | ClinGen:CA658795807 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr) | 8291 | DYSF | Uncertain significance | 1553522164 | RCV000673958|RCV000730157|RCV000779333; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71743368 | 71743368 | | | 2:g.71743368T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) | 8291 | DYSF | Uncertain significance | 372952394 | RCV000592364|RCV000800886|RCV001273971|RCV002476321; | N | 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:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; | 2 | 71743371 | 71743371 | | | NC_000002.11:g.71743371C>T | ClinGen:CA1705516 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.951+1del | 8291 | DYSF | Pathogenic | 786200898 | RCV000007071|RCV001236174|RCV003466825; | N | 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 | 2 | 71743372 | 71743372 | | | 2:g.71743372_71743372del | ClinGen:CA253921,OMIM:603009.0020 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.951+3_951+4del | 8291 | DYSF | Conflicting interpretations of pathogenicity | 1573663867 | RCV001005020|RCV001726413; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71743374 | 71743375 | | | 2:g.71743374_71743375del | - | | |
NM_001130987.2(DYSF):c.951+4T>C | 8291 | DYSF | Benign/Likely benign | 11903960 | RCV000080332|RCV000367595|RCV000405200|RCV001137565|RCV001273972|RCV001527164; | N | MedGen: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:25 | 2 | 71743376 | 71743376 | | | 2:g.71743376T>C | ClinGen:CA147777 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.952-3C>G | 8291 | DYSF | Uncertain significance | -1 | RCV003337876|RCV003388638; | N | MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744116 | 71744116 | | | | - | | |
NM_001130987.2(DYSF):c.952-2A>G | 8291 | DYSF | Likely pathogenic | 1553522730 | RCV000672471|RCV002531316; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71744117 | 71744117 | | | 2:g.71744117A>G | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 398123807 | RCV000080333|RCV000696449|RCV001831823|RCV003330426; | N | MedGen: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:102015 | 2 | 71744120 | 71744120 | | | 2:g.71744120T>A | ClinGen:CA222220 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1553522751 | RCV000671651|RCV001244231|RCV003459630; | N | 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 | 2 | 71744126 | 71744126 | | | 2:g.71744126A>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) | 8291 | DYSF | Likely benign | 771325384 | RCV001415740|RCV001826221; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744127 | 71744127 | | | 71744127 | - | | |
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys) | 8291 | DYSF | Uncertain significance | 776921154 | RCV000596505|RCV001245725|RCV001829684; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744129 | 71744129 | | | 2:g.71744129C>G | ClinGen:CA1705536 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys) | 8291 | DYSF | Uncertain significance | 1375948337 | RCV001304324|RCV001830206; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744131 | 71744131 | | | 71744131 | - | | |
NM_001130987.2(DYSF):c.965G>A (p.Arg322His) | 8291 | DYSF | Uncertain significance | 1386290894 | RCV001045918|RCV001276723; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744132 | 71744132 | | | 2:g.71744132G>A | - | | |
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 112007817 | RCV000328096|RCV001273973|RCV001085447; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71744145 | 71744145 | | | 2:g.71744145A>T | ClinGen:CA1705538 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr) | 8291 | DYSF | Uncertain significance | 1314586455 | RCV001057774|RCV001827360; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744149 | 71744149 | | | 2:g.71744149G>A | - | | |
NM_001130987.2(DYSF):c.982del (p.Ala328fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV003338041; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744149 | 71744149 | | | | - | | |
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 140809078 | RCV000726069|RCV001086161|RCV001833377; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744157 | 71744157 | | | 2:g.71744157C>T | ClinGen:CA1705539 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) | 8291 | DYSF | Pathogenic | 121908963 | RCV000007068|RCV000726614|RCV001388966|RCV003460431; | N | MONDO: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 | 2 | 71744158 | 71744158 | | | NC_000002.11:g.71744158G>A | ClinGen:CA253916,UniProtKB:O75923#VAR_057840,OMIM:603009.0017 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) | 8291 | DYSF | Pathogenic/Likely pathogenic | 121908963 | RCV000007069|RCV000594920|RCV003159090; | N | MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71744158 | 71744158 | | | 2:g.71744158G>T | ClinGen:CA253918,UniProtKB:O75923#VAR_057841,OMIM:603009.0018 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.994del (p.Glu332fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309698; | N | 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 | 2 | 71744158 | 71744158 | | | 71744157 | - | | |
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 1258728780 | RCV000667928|RCV001067569|RCV002469246; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374 | 2 | 71744159 | 71744159 | | | 2:g.71744159G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1000del (p.Arg334fs) | 8291 | DYSF | Pathogenic | 1573671276 | RCV000855415|RCV003467534; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71744166 | 71744166 | | | 2:g.71744166_71744166del | - | | |
NM_001130987.2(DYSF):c.1002+4A>G | 8291 | DYSF | Pathogenic/Likely pathogenic | 905322985 | RCV001072066|RCV001828532|RCV002480447|RCV003462626; | N | 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:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; MONDO:MONDO:002 | 2 | 71744173 | 71744173 | | | 2:g.71744173A>G | - | | |
NM_001130987.2(DYSF):c.1007A>G (p.Asp336Gly) | 8291 | DYSF | Uncertain significance | 763604611 | RCV002018410|RCV002290838; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71747312 | 71747312 | | | 71747312 | - | | |
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp) | 8291 | DYSF | Uncertain significance | 755046419 | RCV001279893|RCV001360490; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71747338 | 71747338 | | | 2:g.71747338C>T | - | | |
NM_001130987.2(DYSF):c.1033+1G>A | 8291 | DYSF | Pathogenic | 201869739 | RCV000173782|RCV000262780|RCV000801493|RCV001810422|RCV003466991; | N | MONDO: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:454 | 2 | 71747339 | 71747339 | | | NC_000002.11:g.71747339G>A | ClinGen:CA222224 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1033+2T>C | 8291 | DYSF | Pathogenic/Likely pathogenic | 886042617 | RCV000264216|RCV003338500; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71747340 | 71747340 | | | NC_000002.11:g.71747340T>C | ClinGen:CA10604480 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1034-20G>A | 8291 | DYSF | Benign | 12713756 | RCV000080336|RCV001527169|RCV001664355|RCV001664356|RCV002055169; | N | MedGen: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:2070 | 2 | 71747899 | 71747899 | | | 2:g.71747899G>A | ClinGen:CA147778 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1038C>T (p.His346=) | 8291 | DYSF | Benign/Likely benign | 36122356 | RCV000080337|RCV000260697|RCV000318233|RCV000711570|RCV001137567|RCV001274439|RCV001527170; | N | MedGen: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: | 2 | 71747923 | 71747923 | | | 2:g.71747923C>T | ClinGen:CA147779 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 745746091 | RCV000329171|RCV001247468|RCV001833378; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71747924 | 71747924 | | | 2:g.71747924G>A | ClinGen:CA1705596 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro) | 8291 | DYSF | Pathogenic/Likely pathogenic | 768546511 | RCV000666238|RCV001235470|RCV003465449; | N | 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 | 2 | 71747946 | 71747946 | | | 2:g.71747946T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 766891289 | RCV000336319|RCV001067684|RCV001823131; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71748001 | 71748001 | | | 2:g.71748001C>G | ClinGen:CA10605994,UniProtKB:O75923#VAR_057843 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg) | 8291 | DYSF | Pathogenic/Likely pathogenic | 766891289 | RCV000667055|RCV001058931|RCV001784244|RCV003465460; | N | MONDO: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 | 2 | 71748001 | 71748001 | | | 2:g.71748001C>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) | 8291 | DYSF | Likely pathogenic | 2152742282 | RCV002272728; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71748012 | 71748012 | | | 71748012 | - | | |
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 571559303 | RCV000153174|RCV000878829|RCV001826823|RCV003422044; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71748019 | 71748019 | | | 2:g.71748019T>C | ClinGen:CA233928 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu) | 8291 | DYSF | Uncertain significance | 562361258 | RCV000648016|RCV001835048; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71748021 | 71748021 | | | NC_000002.11:g.71748021G>A | ClinGen:CA1705611 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) | 8291 | DYSF | Benign/Likely benign | 115279465 | RCV000338286|RCV000544052|RCV001080885|RCV001833316; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71748030 | 71748030 | | | 2:g.71748030C>T | ClinGen:CA1705614 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 199955501 | RCV000264345|RCV000356789|RCV000402278|RCV000665200|RCV000726161|RCV001080526|RCV001449952; | N | MedGen: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: | 2 | 71748034 | 71748034 | | | 2:g.71748034T>G | ClinGen:CA1705617 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.1149+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 398123763 | RCV000174082|RCV000711544|RCV000763501|RCV000700616|RCV003466976; | N | MONDO: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,O | 2 | 71748035 | 71748035 | | | NC_000002.11:g.71748035G>A | ClinGen:CA222120 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1149+3G>C | 8291 | DYSF | Pathogenic | 1573704236 | RCV000993851; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71748037 | 71748037 | | | 2:g.71748037G>C | - | | |
NM_001130987.2(DYSF):c.1149+7A>T | 8291 | DYSF | Likely benign | 771741504 | RCV000243063|RCV000665839|RCV000934203; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71748041 | 71748041 | | | NC_000002.11:g.71748041A>T | ClinGen:CA10586830 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV003337855; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71753356 | 71753356 | | | | - | | |
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310010; | N | 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 | 2 | 71753371 | 71753371 | | | 71753371 | - | | |
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys) | 8291 | DYSF | Uncertain significance | 781380886 | RCV001232729|RCV001828855; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71753397 | 71753397 | | | 2:g.71753397C>A | - | | |
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 375071568 | RCV001948729|RCV002492023; | N | 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:178400 | 2 | 71753405 | 71753405 | | | 71753405 | - | | |
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150724610 | RCV000080227|RCV000513692|RCV000670929|RCV001083703; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71753416 | 71753416 | | | 2:g.71753416G>C | ClinGen:CA147717,UniProtKB:O75923#VAR_057844 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 758180890 | RCV000255632|RCV000509478|RCV000763502|RCV000817143|RCV003463719; | N | 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:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207 | 2 | 71753425 | 71753425 | | | NC_000002.11:g.71753425C>T | ClinGen:CA1705654 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 746610724 | RCV000264809|RCV001241483|RCV001828209|RCV002521928; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71753429 | 71753429 | | | 2:g.71753429G>A | ClinGen:CA1705655 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308470; | N | 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 | 2 | 71753434 | 71753434 | | | 71753434 | - | | |
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 527435707 | RCV000726094|RCV001139795|RCV001833380|RCV003155152; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374 | 2 | 71753455 | 71753455 | | | 2:g.71753455C>T | ClinGen:CA1705660 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs) | 8291 | DYSF | Likely pathogenic | 779969348 | RCV000671395; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71753455 | 71753456 | | | 2:g.71753455_71753456insG | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 776036392 | RCV000647995|RCV001835045|RCV003162956; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71753456 | 71753456 | | | 2:g.71753456G>A | ClinGen:CA1705662 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1263_1276+1dup | 8291 | DYSF | Pathogenic | 863225019 | RCV000201130; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71753462 | 71753463 | | | 2:g.71753462_71753463insGGACTTGCCGCAGAG | ClinGen:CA279095 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886042389 | RCV000292426|RCV000725084|RCV001070518|RCV003469225|RCV003317179; | N | MONDO: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:10 | 2 | 71753464 | 71753464 | | | NC_000002.11:g.71753464G>A | ClinGen:CA10604166 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1267_1276+4dup | 8291 | DYSF | Conflicting interpretations of pathogenicity | 1573744795 | RCV000594474|RCV003338675; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71753465 | 71753466 | | | 2:g.71753465_71753466insCTTGCCGCAGAGTG | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu) | 8291 | DYSF | Likely benign | 1268717670 | RCV001279894|RCV002541723; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71753466 | 71753466 | | | 2:g.71753466C>G | - | | |
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter) | 8291 | DYSF | Likely pathogenic | 2087900330 | RCV001264242; | N | 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 | 2 | 71753468 | 71753468 | | | 2:g.71753468T>A | - | | |
NM_001130987.2(DYSF):c.1274_1276+4dup | 8291 | DYSF | Conflicting interpretations of pathogenicity | 768425085 | RCV000592945|RCV000726448|RCV003465331; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71753471 | 71753472 | | | 2:g.71753471_71753472insGCAGAGT | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg) | 8291 | DYSF | Uncertain significance | 767800266 | RCV001279895; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71753471 | 71753471 | | | 2:g.71753471C>G | - | | |
NM_001130987.2(DYSF):c.1276+5G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 766433603 | RCV000675165|RCV000726343|RCV001048102|RCV003463775; | N | MONDO: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 | 2 | 71753481 | 71753481 | | | 2:g.71753481G>A | ClinGen:CA1705673 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1276+11C>T | 8291 | DYSF | Benign/Likely benign | 35982795 | RCV000080228|RCV000286315|RCV000324901|RCV001139796|RCV001664334|RCV001664333|RCV001664332; | N | MedGen: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:60 | 2 | 71753487 | 71753487 | | | 2:g.71753487C>T | ClinGen:CA147719 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.1277-48A>G | 8291 | DYSF | Benign | 4852800 | RCV000251347|RCV000839069|RCV001527207|RCV001660232|RCV001660233; | N | MedGen: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:268 | 2 | 71755380 | 71755380 | | | NC_000002.11:g.71755380A>G | ClinGen:CA1705689 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1277-2A>C | 8291 | DYSF | Likely pathogenic | 1553531682 | RCV000670531; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71755426 | 71755426 | | | 2:g.71755426A>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val) | 8291 | DYSF | Uncertain significance | 925623903 | RCV001051032|RCV001836089|RCV003145297; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71755437 | 71755437 | | | 2:g.71755437C>T | - | | |
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148697028 | RCV000293655|RCV000350865|RCV000406958|RCV000543795|RCV001731560|RCV001828203; | N | MONDO: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:268 | 2 | 71755462 | 71755462 | | | 2:g.71755462C>T | ClinGen:CA1705699 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1332GAA[1] (p.Lys445del) | 8291 | DYSF | Uncertain significance | 1553531818 | RCV000667544|RCV003144470; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71755481 | 71755483 | | | 2:g.71755481_71755483del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1350del (p.Phe451fs) | 8291 | DYSF | Pathogenic | 766936914 | RCV000666793|RCV001855467|RCV003465454; | N | 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 | 2 | 71755498 | 71755498 | | | 2:g.71755498_71755498del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 371593605 | RCV000592160|RCV000807941|RCV001276724; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71755515 | 71755515 | | | NC_000002.11:g.71755515G>C | ClinGen:CA1705707 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 146588926 | RCV000297254|RCV000392981|RCV000705827|RCV001828331; | N | 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 | 2 | 71755521 | 71755521 | | | NC_000002.11:g.71755521C>T | ClinGen:CA1705708 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1380+2T>C | 8291 | DYSF | Pathogenic | 398123765 | RCV000080229|RCV000174526|RCV003466978; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71755533 | 71755533 | | | NC_000002.11:g.71755533T>C | ClinGen:CA222122 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1380+6G>C | 8291 | DYSF | Conflicting interpretations of pathogenicity | 75796187 | RCV000116925|RCV000336160|RCV000403483|RCV000546998|RCV001084736|RCV001274440; | N | MedGen: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 | 2 | 71755537 | 71755537 | | | 2:g.71755537G>C | ClinGen:CA152660 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1381-2A>G | 8291 | DYSF | Pathogenic | 786200897 | RCV000007070; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71762149 | 71762149 | | | 2:g.71762149A>G | ClinGen:CA253920,OMIM:603009.0019 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 376358025 | RCV000731709|RCV000802202|RCV001830617|RCV002535234; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71762176 | 71762176 | | | NC_000002.11:g.71762176C>T | - | | |
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150093305 | RCV000259934|RCV000725584|RCV001274441|RCV001089239; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71762177 | 71762177 | | | 2:g.71762177G>A | ClinGen:CA1705732 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp) | 8291 | DYSF | Uncertain significance | 1131691788 | RCV000726808|RCV001834602; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71762181 | 71762181 | | | 2:g.71762181A>G | ClinGen:CA347215641 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1413C>G (p.Asn471Lys) | 8291 | DYSF | Uncertain significance | 398123766 | RCV001563947|RCV001563945|RCV001563946; | N | 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 | 2 | 71762183 | 71762183 | | | 71762183 | - | | |
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter) | 8291 | DYSF | Likely pathogenic | 2089169741 | RCV001264243; | N | 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 | 2 | 71762196 | 71762196 | | | 2:g.71762196C>T | - | | |
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 794727119 | RCV000174707|RCV000674572|RCV003468855; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71762209 | 71762209 | | | 2:g.71762209T>C | ClinGen:CA240279 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1449+1G>A | 8291 | DYSF | Pathogenic | 1553535902 | RCV000670711; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71762220 | 71762220 | | | 2:g.71762220G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1449+3G>A | 8291 | DYSF | Conflicting interpretations of pathogenicity | 764771218 | RCV000874517|RCV001276727|RCV003145218; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71762222 | 71762222 | | | 2:g.71762222G>A | - | | |
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) | 8291 | DYSF | Pathogenic | 202044973 | RCV000080232|RCV000174882|RCV000698361|RCV003466979; | N | 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 | 2 | 71762412 | 71762412 | | | 2:g.71762412C>A | ClinGen:CA222125 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 61740288 | RCV000080233|RCV000550203|RCV000710125|RCV001835673; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71762413 | 71762413 | | | 2:g.71762413G>A | ClinGen:CA147721 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1471dup (p.Met491fs) | 8291 | DYSF | Pathogenic | 1236367931 | RCV000665852|RCV001053757|RCV003465444; | N | 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 | 2 | 71762413 | 71762414 | | | 2:g.71762413_71762414insA | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 199879861 | RCV000269469|RCV000330051|RCV000361672|RCV000525084|RCV001274442; | N | MedGen: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:268 | 2 | 71762429 | 71762429 | | | 2:g.71762429G>A | ClinGen:CA1705768 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) | 8291 | DYSF | Pathogenic | 398123767 | RCV000174883|RCV000599321|RCV002515771|RCV003466980; | N | MONDO: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 | 2 | 71762435 | 71762436 | | | NC_000002.11:g.71762436dup | ClinGen:CA222127 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) | 8291 | DYSF | Uncertain significance | 1573811118 | RCV001004978; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71762438 | 71762438 | | | 2:g.71762438A>T | - | | |
NM_001130987.2(DYSF):c.1493+2dup | 8291 | DYSF | Uncertain significance | 753885022 | RCV000656701|RCV003144459; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71762442 | 71762443 | | | 2:g.71762442_71762443insT | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1493+1G>A | 8291 | DYSF | Likely pathogenic | 1553536007 | RCV000670424|RCV001061856; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71762442 | 71762442 | | | 2:g.71762442G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1494-1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 398123768 | RCV000175043|RCV000790756; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71766286 | 71766286 | | | NC_000002.11:g.71766286G>A | ClinGen:CA222128 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 185119682 | RCV000335981|RCV000535143|RCV001274443|RCV002480026; | N | 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:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; | 2 | 71766291 | 71766291 | | | 2:g.71766291C>T | ClinGen:CA1705795 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) | 8291 | DYSF | Uncertain significance | 775370021 | RCV001322090|RCV001830971|RCV003399102; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374 | 2 | 71766292 | 71766292 | | | 71766292 | - | | |
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) | 8291 | DYSF | Benign | 34387018 | RCV000116926|RCV000711547|RCV001083489|RCV001274444; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71766311 | 71766311 | | | 2:g.71766311C>T | ClinGen:CA152661 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 34387018 | RCV000335708|RCV001084714|RCV001828273; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71766311 | 71766311 | | | 2:g.71766311C>A | ClinGen:CA1705798 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met) | 8291 | DYSF | Likely benign | 761279290 | RCV001315541|RCV001830294; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71766312 | 71766312 | | | 71766312 | - | | |
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309407; | N | 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 | 2 | 71766323 | 71766324 | | | 71766322 | - | | |
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 139258703 | RCV000669615|RCV002531232; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71766337 | 71766337 | | | 2:g.71766337C>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu) | 8291 | DYSF | Likely benign | 139258703 | RCV001235263|RCV001828870; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71766337 | 71766337 | | | 2:g.71766337C>T | - | | |
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe) | 8291 | DYSF | Uncertain significance | 765472161 | RCV000816717|RCV001835976|RCV003145192; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71766342 | 71766342 | | | 2:g.71766342A>T | - | | |
NM_001130987.2(DYSF):c.1560del (p.Gly521fs) | 8291 | DYSF | Pathogenic | 1456182703 | RCV000761538|RCV001381503; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71766353 | 71766353 | | | NC_000002.11:g.71766353del | - | | |
NM_001130987.2(DYSF):c.1562del (p.Gly521fs) | 8291 | DYSF | Pathogenic | 1559109621 | RCV000761509; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71766354 | 71766354 | | | NC_000002.11:g.71766355del | - | | |
NM_001130987.2(DYSF):c.1576+1del | 8291 | DYSF | Pathogenic/Likely pathogenic | 1553537332 | RCV000668301|RCV002532070|RCV003459595; | N | 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 | 2 | 71766369 | 71766369 | | | 2:g.71766369_71766369del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1576+18T>C | 8291 | DYSF | Conflicting interpretations of pathogenicity | 768373625 | RCV000668257|RCV002060818; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71766387 | 71766387 | | | 2:g.71766387T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1577-1699C>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 183489578 | RCV000349882|RCV001087804|RCV001276728; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71776472 | 71776472 | | | 2:g.71776472C>T | ClinGen:CA1705835 | CN169374 not specified; | |
NM_003494.4(DYSF):c.1481-1G>A | 8291 | DYSF | Pathogenic | 398123770 | RCV000175175|RCV000711548|RCV002477229|RCV002514411|RCV003460748; | N | MONDO: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,O | 2 | 71776479 | 71776479 | | | NC_000002.11:g.71776479G>A | ClinGen:CA222130 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser) | 8291 | DYSF | Uncertain significance | 368577086 | RCV000648009|RCV001835047; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71776485 | 71776485 | | | NC_000002.11:g.71776485C>T | ClinGen:CA1705840 | C2931687 Dysferlinopathy; | |
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala) | 8291 | DYSF | Uncertain significance | 368577086 | RCV000810738|RCV001830768; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71776485 | 71776485 | | | 2:g.71776485C>G | - | | |
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val) | 8291 | DYSF | Uncertain significance | 1057524492 | RCV000435855|RCV001833569; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71776492 | 71776492 | | | 2:g.71776492G>T | ClinGen:CA16604360 | CN169374 not specified; | |
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144931729 | RCV000706854|RCV000711549|RCV001271777|RCV002534470; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71776507 | 71776507 | | | 2:g.71776507C>T | - | C2931687 Dysferlinopathy; | |
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) | 8291 | DYSF | Likely pathogenic | 1553541329 | RCV000668154; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71776520 | 71776520 | | | 2:g.71776520_71776521insA | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1577-1646C>T | 8291 | DYSF | Uncertain significance | 763227235 | RCV001340968|RCV001831067; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71776525 | 71776525 | | | 71776525 | - | | |
NM_001130987.2(DYSF):c.1577-25T>C | 8291 | DYSF | Uncertain significance | 769185336 | RCV001279896; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778146 | 71778146 | | | 2:g.71778146T>C | - | | |
NM_001130987.2(DYSF):c.1577-2A>G | 8291 | DYSF | Pathogenic | 1553542142 | RCV000667216; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778169 | 71778169 | | | 2:g.71778169A>G | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1597del (p.Leu533fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | -1 | RCV002307989|RCV003102298; | N | 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:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71778190 | 71778190 | | | 71778189 | - | | |
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) | 8291 | DYSF | Uncertain significance | 1573929182 | RCV001004943; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778209 | 71778209 | | | 2:g.71778209T>C | - | | |
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter) | 8291 | DYSF | Likely pathogenic | 2090909751 | RCV001264244; | N | 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 | 2 | 71778211 | 71778211 | | | 2:g.71778211C>A | - | | |
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 777489323 | RCV000647986|RCV000765696|RCV001662702|RCV001835043; | N | 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:178400|MedGen:CN5172 | 2 | 71778212 | 71778212 | | | NC_000002.11:g.71778212T>C | ClinGen:CA1705873 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) | 8291 | DYSF | Benign/Likely benign | 139495331 | RCV000175305|RCV000548539|RCV001704255|RCV001826883; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778220 | 71778220 | | | 2:g.71778220C>T | ClinGen:CA201384 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser) | 8291 | DYSF | Uncertain significance | 559177313 | RCV001213616|RCV001279897|RCV001563905|RCV001563906; | N | 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:178400 | 2 | 71778233 | 71778233 | | | 2:g.71778233C>T | - | | |
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr) | 8291 | DYSF | Likely benign | 749866053 | RCV001245099|RCV001835223; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778260 | 71778260 | | | 2:g.71778260C>A | - | | |
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308066; | N | 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 | 2 | 71778263 | 71778263 | | | 71778262 | - | | |
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 541663451 | RCV000648014|RCV001829805|RCV003243237; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71778270 | 71778270 | | | 2:g.71778270A>G | ClinGen:CA1705883 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=) | 8291 | DYSF | Likely benign | 374809515 | RCV000945624|RCV001832188; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778277 | 71778277 | | | 2:g.71778277C>T | - | | |
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr) | 8291 | DYSF | Uncertain significance | 561875696 | RCV000519891|RCV001829497|RCV002525186; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71778285 | 71778285 | | | 2:g.71778285A>C | ClinGen:CA49793005 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1693-6T>A | 8291 | DYSF | Pathogenic | 886039573 | RCV000254712|RCV000597734|RCV001381504|RCV003463720; | N | 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 | 2 | 71778731 | 71778731 | | | 2:g.71778731T>A | ClinGen:CA10588347 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 771062534 | RCV001364685|RCV001826032|RCV003145621; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71778746 | 71778746 | | | 71778746 | - | | |
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 767415886 | RCV000389310|RCV000726337|RCV001271778|RCV001850449; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71778755 | 71778755 | | | 2:g.71778755C>T | ClinGen:CA1705911 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His) | 8291 | DYSF | Uncertain significance | 1368149283 | RCV000727492|RCV001232730|RCV001829509; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778756 | 71778756 | | | 2:g.71778756G>A | ClinGen:CA347217588 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) | 8291 | DYSF | Pathogenic | 377735262 | RCV000080241|RCV000391157|RCV000984167|RCV001384924|RCV003460749; | N | MedGen: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:45448 | 2 | 71778761 | 71778761 | | | NC_000002.11:g.71778761C>T | ClinGen:CA222133,UniProtKB:O75923#VAR_024859 | CN239317 DYSF-Related Disorders; | |
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln) | 8291 | DYSF | Uncertain significance | 755829878 | RCV000844895|RCV001326184|RCV001825702; | N | 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:207073|MONDO:MONDO:0 | 2 | 71778762 | 71778762 | | | 2:g.71778762G>A | - | | |
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) | 8291 | DYSF | Pathogenic | 200916654 | RCV000656079|RCV001089586|RCV001220606; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71778765 | 71778765 | | | 2:g.71778765T>C | ClinGen:CA1705913 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886042633 | RCV000259897|RCV001727667|RCV001859579; | N | 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:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070 | 2 | 71778806 | 71778806 | | | NC_000002.11:g.71778806C>T | ClinGen:CA10604502 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 376932915 | RCV000815952|RCV001664434|RCV001830788; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778818 | 71778818 | | | 2:g.71778818G>T | - | | |
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) | 8291 | DYSF | Benign/Likely benign | 35984374 | RCV000080242|RCV000542679|RCV001274445; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778829 | 71778829 | | | 2:g.71778829G>A | ClinGen:CA147724 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu) | 8291 | DYSF | Uncertain significance | 773168782 | RCV000802253|RCV001830730; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778835 | 71778835 | | | 2:g.71778835C>G | - | | |
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=) | 8291 | DYSF | Uncertain significance | 2090960824 | RCV001279898; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778841 | 71778841 | | | 2:g.71778841C>T | - | | |
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 149386446 | RCV000598052|RCV000648023|RCV001274446|RCV001526744; | N | 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 | 2 | 71778842 | 71778842 | | | 2:g.71778842C>T | ClinGen:CA1705929 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 546679270 | RCV000306031|RCV000403176|RCV000665544|RCV000727415|RCV001080579; | N | MONDO: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:207073 | 2 | 71778843 | 71778843 | | | 2:g.71778843G>T | ClinGen:CA1705931 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln) | 8291 | DYSF | Likely benign | 546679270 | RCV001068741|RCV001271779; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71778843 | 71778843 | | | 2:g.71778843G>A | - | | |
NM_001130987.2(DYSF):c.1807-24C>G | 8291 | DYSF | Benign | 2303595 | RCV000248998|RCV000836878|RCV001527211|RCV001660235|RCV001660234; | N | MedGen: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:178400 | 2 | 71780117 | 71780117 | | | NC_000002.11:g.71780117C>G | ClinGen:CA1705954 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) | 8291 | DYSF | Pathogenic | 1553543506 | RCV000517890|RCV001382905|RCV001834663; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780146 | 71780146 | | | 2:g.71780146C>G | ClinGen:CA347218306 | CN517202 not provided; | |
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) | 8291 | DYSF | Uncertain significance | 745472489 | RCV000176066|RCV001248203|RCV001832007|RCV002516700; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71780156 | 71780156 | | | 2:g.71780156C>T | ClinGen:CA241936 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) | 8291 | DYSF | Uncertain significance | 146261069 | RCV000080243|RCV000552883|RCV000725539|RCV001274447; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780175 | 71780175 | | | 2:g.71780175C>T | ClinGen:CA222134 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306573; | N | 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 | 2 | 71780185 | 71780186 | | | 71780184 | - | | |
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile) | 8291 | DYSF | Uncertain significance | 767805308 | RCV000801289|RCV001825582; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780193 | 71780193 | | | 2:g.71780193C>T | - | | |
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) | 8291 | DYSF | Benign | 2303596 | RCV000080244|RCV000302229|RCV000357010|RCV000711550|RCV001274448|RCV001137671|RCV001527212|RCV001664337; | N | MedGen: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: | 2 | 71780215 | 71780215 | | | 2:g.71780215T>C | ClinGen:CA147726 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) | 8291 | DYSF | Pathogenic | 746873768 | RCV000201076|RCV000255415|RCV000531181|RCV000763503|RCV003468914; | N | MONDO: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:268 | 2 | 71780222 | 71780222 | | | 2:g.71780222C>T | ClinGen:CA277606 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) | 8291 | DYSF | Benign/Likely benign | 567956595 | RCV001563801|RCV001271780|RCV000946075|RCV001563743; | N | MONDO: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:45448 | 2 | 71780239 | 71780239 | | | 2:g.71780239C>T | - | | |
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201049092 | RCV000176067|RCV000675177|RCV001852168|RCV003235095|RCV003468857; | N | MedGen: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:4 | 2 | 71780240 | 71780240 | | | 2:g.71780240G>A | ClinGen:CA241938,UniProtKB:O75923#VAR_057851 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) | 8291 | DYSF | Pathogenic/Likely pathogenic | 201049092 | RCV000201138|RCV000726170; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71780240 | 71780240 | | | 2:g.71780240G>C | ClinGen:CA277611,UniProtKB:O75923#VAR_057851 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) | 8291 | DYSF | Benign/Likely benign | 35721373 | RCV000080245|RCV000262188|RCV000317599|RCV000541345|RCV001274449|RCV001527213|RCV001664338|RCV001795099; | N | MedGen: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:25 | 2 | 71780248 | 71780248 | | | 2:g.71780248C>T | ClinGen:CA147728 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886043900 | RCV000597376|RCV000726165|RCV001214514|RCV003469244; | N | MONDO: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 | 2 | 71780249 | 71780249 | | | 2:g.71780249G>A | ClinGen:CA10606091,UniProtKB:O75923#VAR_057852 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 769518034 | RCV000277756|RCV000372276|RCV000871697|RCV001271781; | N | 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 | 2 | 71780251 | 71780251 | | | 2:g.71780251G>A | ClinGen:CA1705978 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 550180529 | RCV000930776|RCV001271782; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780260 | 71780260 | | | 2:g.71780260C>T | - | | |
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) | 8291 | DYSF | Pathogenic | 121908960 | RCV000007064; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780261 | 71780261 | | | 2:g.71780261G>T | ClinGen:CA253909,UniProtKB:O75923#VAR_057853,OMIM:603009.0013 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile) | 8291 | DYSF | Uncertain significance | 1299723799 | RCV001232486|RCV001834016|RCV003442795; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71780266 | 71780266 | | | 2:g.71780266G>A | - | | |
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 115849497 | RCV000080246|RCV000332709|RCV000386778|RCV000544595|RCV001274450; | N | MedGen: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 | 2 | 71780278 | 71780278 | | | 2:g.71780278G>A | ClinGen:CA147730 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 115849497 | RCV000382853|RCV000725847|RCV001078656|RCV001271783; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780278 | 71780278 | | | 2:g.71780278G>T | ClinGen:CA1705986 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=) | 8291 | DYSF | Uncertain significance | 574076669 | RCV001241069|RCV001834138; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780317 | 71780317 | | | 2:g.71780317C>T | - | | |
NM_001130987.2(DYSF):c.1985-4C>G | 8291 | DYSF | Conflicting interpretations of pathogenicity | 374489513 | RCV000176196|RCV001080312|RCV001271784; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780933 | 71780933 | | | 2:g.71780933C>G | ClinGen:CA242073 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308262; | N | 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 | 2 | 71780947 | 71780947 | | | 71780947 | - | | |
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter) | 8291 | DYSF | Likely pathogenic | 2091142154 | RCV001264245; | N | 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 | 2 | 71780961 | 71780961 | | | 2:g.71780961G>A | - | | |
NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 538170367 | RCV000348203|RCV001466761|RCV001823130; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780963 | 71780963 | | | 2:g.71780963G>A | ClinGen:CA1706026 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 199565036 | RCV000246296|RCV000665737|RCV000966654; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71780968 | 71780968 | | | 2:g.71780968C>T | ClinGen:CA1706027 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139754493 | RCV000292466|RCV000328757|RCV000487642|RCV001085988|RCV001563949|RCV001563948|RCV001563950|RCV003416078; | N | 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:C4551973,OMIM:25 | 2 | 71780972 | 71780972 | | | 2:g.71780972A>G | ClinGen:CA242074 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 138111360 | RCV000726558|RCV001086499|RCV001835773; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71780986 | 71780986 | | | 2:g.71780986G>A | ClinGen:CA1706029 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr) | 8291 | DYSF | Uncertain significance | 765027098 | RCV000277587|RCV000648018|RCV001274451|RCV002519198; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71780990 | 71780990 | | | 2:g.71780990T>A | ClinGen:CA1706030 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter) | 8291 | DYSF | Likely pathogenic | 2091144091 | RCV001264246; | N | 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 | 2 | 71780991 | 71780991 | | | 2:g.71780991C>G | - | | |
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 367901920 | RCV001244179|RCV001760277|RCV001829922; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71781020 | 71781020 | | | 2:g.71781020A>T | - | | |
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 749488054 | RCV000807551|RCV001825603|RCV003145159; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71781057 | 71781057 | | | 2:g.71781057G>A | - | | |
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 74423119 | RCV000251223|RCV000513999|RCV001081560|RCV001828138|RCV002519917; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71781059 | 71781059 | | | 2:g.71781059C>G | ClinGen:CA1706042 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 145007061 | RCV000725234|RCV001087666|RCV001271785; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71783132 | 71783132 | | | 2:g.71783132C>T | ClinGen:CA1706065 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201239189 | RCV000392895|RCV001088299|RCV001271786|RCV001563802|RCV001563803; | N | 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:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784 | 2 | 71783133 | 71783133 | | | 2:g.71783133G>A | ClinGen:CA1706066 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 775539496 | RCV000304844|RCV000726444|RCV000804560|RCV001279899; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71783144 | 71783144 | | | NC_000002.11:g.71783144C>T | ClinGen:CA1706069 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=) | 8291 | DYSF | Likely benign | 762651388 | RCV000874598|RCV001271787; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71783145 | 71783145 | | | 2:g.71783145G>A | - | | |
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 182450244 | RCV000547561|RCV000734858|RCV001834789|RCV002506358; | N | MONDO: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; | 2 | 71783152 | 71783152 | | | 2:g.71783152G>A | ClinGen:CA1706074 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 570860273 | RCV001563902|RCV001563903|RCV001563944|RCV002488382|RCV002573185|RCV003146217; | N | 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:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448; MO | 2 | 71783177 | 71783177 | | | 71783177 | - | | |
NM_001130987.2(DYSF):c.2216+6G>C | 8291 | DYSF | Uncertain significance | 747059895 | RCV000176294|RCV001245187|RCV001835704; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71783207 | 71783207 | | | 2:g.71783207G>C | ClinGen:CA242200 | CN169374 not specified; | |
Single allele | 8291 | DYSF | Likely pathogenic | -1 | RCV000786062; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71788622 | 71897384 | | | NC_000007.13:g.30999250_31006943delinsAGAGATCCA | - | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | |
NM_001130987.2(DYSF):c.2217-2A>G | 8291 | DYSF | Pathogenic/Likely pathogenic | 747289205 | RCV000326270|RCV000726460|RCV001859714; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71788880 | 71788880 | | | 2:g.71788880A>G | ClinGen:CA1706103 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2217-1G>T | 8291 | DYSF | Pathogenic | 886044379 | RCV000382100|RCV001172377; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71788881 | 71788881 | | | 2:g.71788881G>T | ClinGen:CA10606685 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306701; | N | 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 | 2 | 71788896 | 71788897 | | | 71788895 | - | | |
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys) | 8291 | DYSF | Likely benign | 369209261 | RCV000694346|RCV001835920; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71788904 | 71788904 | | | 2:g.71788904G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309053; | N | 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 | 2 | 71788904 | 71788904 | | | 71788904 | - | | |
NM_001130987.2(DYSF):c.2253del (p.Thr752fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310516; | N | 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 | 2 | 71788917 | 71788917 | | | 71788916 | - | | |
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 202123283 | RCV000300931|RCV000405461|RCV000726455|RCV001082501|RCV001271788; | N | 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 | 2 | 71788922 | 71788922 | | | 2:g.71788922C>A | ClinGen:CA1706110 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr) | 8291 | DYSF | Uncertain significance | 376652699 | RCV001235528|RCV001834046; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71788928 | 71788928 | | | 2:g.71788928G>T | - | | |
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309584; | N | 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 | 2 | 71788938 | 71788939 | | | 71788937 | - | | |
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) | 8291 | DYSF | Uncertain significance | 181551438 | RCV000725712|RCV001221509|RCV001274452; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71788949 | 71788949 | | | 2:g.71788949C>T | ClinGen:CA1706115 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His) | 8291 | DYSF | Uncertain significance | 759015457 | RCV001065935|RCV001274453; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71788950 | 71788950 | | | 2:g.71788950G>A | - | | |
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg) | 8291 | DYSF | Uncertain significance | 372475742 | RCV000647997|RCV001271789|RCV003144429; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71788995 | 71788995 | | | NC_000002.11:g.71788995A>G | ClinGen:CA1706123 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 116204385 | RCV000153175|RCV000355712|RCV000405119|RCV000876464|RCV001704108|RCV001831950; | N | MedGen: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:268 | 2 | 71788999 | 71788999 | | | 2:g.71788999C>T | ClinGen:CA179985 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 138654170 | RCV000176395|RCV000765697|RCV001085145|RCV001271790; | N | 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:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070 | 2 | 71789000 | 71789000 | | | 2:g.71789000G>A | ClinGen:CA242326 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307145; | N | 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 | 2 | 71789006 | 71789009 | | | 71789005 | - | | |
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 553605812 | RCV000384090|RCV000726140|RCV001271791|RCV001396652; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71789035 | 71789035 | | | 2:g.71789035G>A | ClinGen:CA10606035 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) | 8291 | DYSF | Uncertain significance | 143568054 | RCV000176394|RCV000297176|RCV000370605|RCV001140667|RCV001835705; | N | MedGen: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:268 | 2 | 71789051 | 71789051 | | | 2:g.71789051C>T | ClinGen:CA242324 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 185891286 | RCV000876867|RCV001271792|RCV001772165; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71789052 | 71789052 | | | 2:g.71789052G>A | - | | |
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys) | 8291 | DYSF | Uncertain significance | 377196032 | RCV001246286|RCV001829984; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71789057 | 71789057 | | | 2:g.71789057C>T | - | | |
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 763456750 | RCV000550765|RCV001274454|RCV001558981; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71789058 | 71789058 | | | NC_000002.11:g.71789058G>A | ClinGen:CA1706135 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2409+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 151317754 | RCV000261362|RCV000349131|RCV001379694|RCV003463745; | N | 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 | 2 | 71789075 | 71789075 | | | 2:g.71789075G>A | ClinGen:CA10604289 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) | 8291 | DYSF | Pathogenic | 121908956 | RCV000007055|RCV000007056|RCV000790785|RCV000807968; | N | 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:207073 | 2 | 71791204 | 71791204 | | | NC_000002.11:g.71791204C>G | ClinGen:CA222139,UniProtKB:O75923#VAR_012308,OMIM:603009.0007 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) | 8291 | DYSF | Likely benign | 773468156 | RCV000914116|RCV001825834; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791211 | 71791211 | | | 2:g.71791211C>T | - | | |
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 371609233 | RCV001140670|RCV001541058|RCV001828567; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791212 | 71791212 | | | 2:g.71791212G>A | - | | |
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup) | 8291 | DYSF | Uncertain significance | 1326126736 | RCV000671036; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791236 | 71791237 | | | 2:g.71791236_71791237insAGCGTGTGGCATACC | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys) | 8291 | DYSF | Uncertain significance | 754179180 | RCV001338756|RCV001830405; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791239 | 71791239 | | | 71791239 | - | | |
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) | 8291 | DYSF | Uncertain significance | 759675023 | RCV000269566|RCV000666599|RCV000706501|RCV001804996; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374 | 2 | 71791240 | 71791240 | | | 2:g.71791240G>A | ClinGen:CA1706181 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter) | 8291 | DYSF | Pathogenic | -1 | RCV002287921; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791250 | 71791250 | | | 71791250 | - | | |
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) | 8291 | DYSF | Pathogenic | 1574016452 | RCV000853624; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791251 | 71791251 | | | 2:g.71791251C>T | - | | |
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 35297901 | RCV000271598|RCV000356959|RCV000366269|RCV000695150|RCV001271793|RCV002487214; | N | MONDO: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:25 | 2 | 71791255 | 71791255 | | | 2:g.71791255G>A | ClinGen:CA1706183 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser) | 8291 | DYSF | Uncertain significance | 146819460 | RCV000592048|RCV001244433|RCV001834903|RCV003258884; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71791260 | 71791260 | | | 2:g.71791260C>T | ClinGen:CA1706184 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr) | 8291 | DYSF | Uncertain significance | 146819460 | RCV001035392|RCV001832372|RCV003145257; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71791260 | 71791260 | | | 2:g.71791260C>A | - | | |
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 562925562 | RCV000822206|RCV001274455|RCV003353063; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71791263 | 71791263 | | | 2:g.71791263G>A | - | | |
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 749002214 | RCV000690013|RCV000997160|RCV001825341; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791284 | 71791284 | | | 2:g.71791284C>T | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 371841411 | RCV000523223|RCV001829489|RCV002527605; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71791287 | 71791287 | | | 2:g.71791287C>T | ClinGen:CA1706191 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 748636047 | RCV000596941|RCV000817716|RCV001829634; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791288 | 71791288 | | | NC_000002.11:g.71791288G>A | ClinGen:CA1706192 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309060; | N | 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 | 2 | 71791308 | 71791308 | | | 71791308 | - | | |
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys) | 8291 | DYSF | Uncertain significance | 199543257 | RCV000550468|RCV001834790; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791326 | 71791326 | | | 2:g.71791326C>A | ClinGen:CA347211807 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) | 8291 | DYSF | Pathogenic | 199543257 | RCV000667000; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71791326 | 71791326 | | | 2:g.71791326C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) | 8291 | DYSF | Benign/Likely benign | 34671418 | RCV000080253|RCV000326704|RCV000381491|RCV000528879|RCV001274456|RCV001795100; | N | MedGen: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:C3661900 | 2 | 71791332 | 71791332 | | | 2:g.71791332A>G | ClinGen:CA147734,UniProtKB:O75923#VAR_049055 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) | 8291 | DYSF | Likely pathogenic | 2091951931 | RCV001263671; | N | 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 | 2 | 71791341 | 71791341 | | | 2:g.71791341A>T | - | | |
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 2092204417 | RCV001207233|RCV001776143|RCV001263672; | N | MONDO: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:2 | 2 | 71795083 | 71795083 | | | 2:g.71795083T>A | - | | |
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu) | 8291 | DYSF | Uncertain significance | 759412160 | RCV000350288|RCV001241954|RCV001828261; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795085 | 71795085 | | | 2:g.71795085C>T | ClinGen:CA1706225 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) | 8291 | DYSF | Likely pathogenic | 2092205152 | RCV001263673; | N | 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 | 2 | 71795093 | 71795093 | | | 2:g.71795093A>T | - | | |
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=) | 8291 | DYSF | Benign | 551942312 | RCV000795621|RCV001830707; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795104 | 71795104 | | | 2:g.71795104C>T | - | | |
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr) | 8291 | DYSF | Uncertain significance | 143632564 | RCV000286988|RCV000323409|RCV001240549|RCV001828332|RCV003144230|RCV003258773; | N | 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:CN517202|MeSH:D030342,MedGen:C0950123 | 2 | 71795105 | 71795105 | | | 2:g.71795105G>A | ClinGen:CA1706230 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) | 8291 | DYSF | Uncertain significance | 781777155 | RCV000648003|RCV001531321|RCV001835046; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795109 | 71795109 | | | 2:g.71795109G>A | ClinGen:CA1706232 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp) | 8291 | DYSF | Uncertain significance | 749542779 | RCV000307107|RCV001204777|RCV001828244|RCV002518991; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71795126 | 71795126 | | | 2:g.71795126C>T | ClinGen:CA1706236 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 191337920 | RCV000251826|RCV000726086|RCV001086817|RCV001271794; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795137 | 71795137 | | | NC_000002.11:g.71795137G>A | ClinGen:CA1706238 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=) | 8291 | DYSF | Likely benign | 1465061221 | RCV001277412|RCV002541660; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71795146 | 71795146 | | | 2:g.71795146G>T | - | | |
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) | 8291 | DYSF | Likely pathogenic | 2092208616 | RCV001263674; | N | 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 | 2 | 71795151 | 71795151 | | | 2:g.71795151C>A | - | | |
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) | 8291 | DYSF | Benign | 2288355 | RCV000080254|RCV000283608|RCV000378035|RCV000711552|RCV001142549|RCV001274457|RCV001527216|RCV001664339; | N | MedGen: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: | 2 | 71795152 | 71795152 | | | 2:g.71795152A>T | ClinGen:CA147736 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) | 8291 | DYSF | Benign/Likely benign | 35884879 | RCV000153176|RCV000710127|RCV001084336|RCV001826824; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795157 | 71795157 | | | 2:g.71795157A>C | ClinGen:CA179987 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu) | 8291 | DYSF | Uncertain significance | 146153109 | RCV001231055|RCV001834003; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795158 | 71795158 | | | 2:g.71795158T>G | - | | |
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) | 8291 | DYSF | Likely pathogenic | 2092209337 | RCV001263675; | N | 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 | 2 | 71795159 | 71795159 | | | 2:g.71795159G>T | - | | |
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310376; | N | 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 | 2 | 71795159 | 71795160 | | | 71795158 | - | | |
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) | 8291 | DYSF | Likely pathogenic | 2092210085 | RCV001263676; | N | 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 | 2 | 71795165 | 71795165 | | | 2:g.71795165G>T | - | | |
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 200049922 | RCV000338669|RCV000393077|RCV000531939|RCV000416052|RCV001271795; | N | 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:268 | 2 | 71795183 | 71795183 | | | 2:g.71795183G>A | ClinGen:CA1706245 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) | 8291 | DYSF | Likely pathogenic | 2092211777 | RCV001263677; | N | 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 | 2 | 71795189 | 71795189 | | | 2:g.71795189A>T | - | | |
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=) | 8291 | DYSF | Likely benign | 750999022 | RCV001065777|RCV001833638; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795212 | 71795212 | | | 2:g.71795212C>T | - | | |
NM_001130987.2(DYSF):c.2697+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 140108514 | RCV000080255|RCV000176550|RCV000233433|RCV000697172|RCV000763504|RCV003415848; | N | MedGen: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:1784 | 2 | 71795213 | 71795213 | | | 2:g.71795213G>A | ClinGen:CA222141,ClinVar:424775,ClinVar:424829 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2697+5G>A | 8291 | DYSF | Conflicting interpretations of pathogenicity | 2092213253 | RCV002042107|RCV003339763; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795217 | 71795217 | | | 71795217 | - | | |
NM_001130987.2(DYSF):c.2698-2A>G | 8291 | DYSF | Pathogenic | 1420930684 | RCV000672212; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795300 | 71795300 | | | 2:g.71795300A>G | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 149979662 | RCV000593326|RCV001085310|RCV001834883; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795304 | 71795304 | | | 2:g.71795304T>C | ClinGen:CA1706267 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2706C>T (p.Asn902=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 398123775 | RCV000080256|RCV000668890|RCV002055161; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71795310 | 71795310 | | | 2:g.71795310C>T | ClinGen:CA222142 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys) | 8291 | DYSF | Uncertain significance | 770997582 | RCV000725888|RCV000821051|RCV001828232; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795311 | 71795311 | | | NC_000002.11:g.71795311G>A | ClinGen:CA1706268 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 769739410 | RCV000711553|RCV001048828|RCV001830577|RCV002532913|RCV003330916; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 2 | 71795348 | 71795348 | | | NC_000002.11:g.71795348C>T | - | | |
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=) | 8291 | DYSF | Likely benign | 775337850 | RCV001271796|RCV001398887; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71795349 | 71795349 | | | 2:g.71795349G>A | - | | |
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile) | 8291 | DYSF | Uncertain significance | 2092226553 | RCV001052338|RCV001832482|RCV003145298; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71795377 | 71795377 | | | 2:g.71795377G>A | - | | |
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del) | 8291 | DYSF | Uncertain significance | 1553553762 | RCV000672402; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795378 | 71795389 | | | 2:g.71795378_71795389del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308036; | N | 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 | 2 | 71795386 | 71795386 | | | 71795386 | - | | |
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn) | 8291 | DYSF | Uncertain significance | 766900434 | RCV001371504|RCV001831302; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795390 | 71795390 | | | 71795390 | - | | |
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His) | 8291 | DYSF | Uncertain significance | 765601966 | RCV000277280|RCV001038058|RCV001833400; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795414 | 71795414 | | | 2:g.71795414G>A | ClinGen:CA1706287 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) | 8291 | DYSF | Uncertain significance | 535323489 | RCV000670234; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795420 | 71795420 | | | 2:g.71795420C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 373328706 | RCV000726568|RCV001084706|RCV001271797; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795424 | 71795424 | | | 2:g.71795424C>T | ClinGen:CA1706289 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser) | 8291 | DYSF | Uncertain significance | 747089235 | RCV000711555|RCV001825419; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795425 | 71795425 | | | NC_000002.11:g.71795425G>A | - | | |
NM_001130987.2(DYSF):c.2827A>T (p.Thr943Ser) | 8291 | DYSF | Uncertain significance | -1 | RCV002290071|RCV003097783|RCV003146534; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202 | 2 | 71795431 | 71795431 | | | 71795431 | - | | |
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) | 8291 | DYSF | Pathogenic | 727503909 | RCV000007072|RCV000311139|RCV000546602|RCV000599552; | N | 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|MedGen:C3661900 | 2 | 71795435 | 71795435 | | | 2:g.71795435_71795435del | ClinGen:CA233930,OMIM:603009.0021 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310059; | N | 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 | 2 | 71795436 | 71795436 | | | 71795436 | - | | |
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 727503910 | RCV000153178|RCV000668306|RCV003462058|RCV003329115; | N | MedGen: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 | 2 | 71795448 | 71795448 | | | 2:g.71795448G>C | ClinGen:CA233931,UniProtKB:O75923#VAR_057856 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu) | 8291 | DYSF | Uncertain significance | 774307376 | RCV000815321|RCV001830786; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795452 | 71795452 | | | 2:g.71795452G>C | - | | |
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) | 8291 | DYSF | Likely pathogenic | 2092231526 | RCV001263678; | N | 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 | 2 | 71795457 | 71795457 | | | 2:g.71795457T>A | - | | |
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150717638 | RCV000380360|RCV001246606|RCV001833413|RCV002480056; | N | MedGen: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:454 | 2 | 71795459 | 71795459 | | | 2:g.71795459C>T | ClinGen:CA1706296 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) | 8291 | DYSF | Benign/Likely benign | 34836829 | RCV000080258|RCV000556584|RCV001274458|RCV001795101; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71795460 | 71795460 | | | 2:g.71795460G>A | ClinGen:CA147740 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile) | 8291 | DYSF | Uncertain significance | 201209494 | RCV000313252|RCV000393103|RCV000731372|RCV000702161|RCV002252100|RCV001828333; | N | 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 | 2 | 71795468 | 71795468 | | | 2:g.71795468C>T | ClinGen:CA1706297 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2864+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 199954546 | RCV000512137|RCV001263253|RCV001217776|RCV002286745; | N | 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|MedGen:C3661900 | 2 | 71795469 | 71795469 | | | NC_000002.11:g.71795469G>A | ClinGen:CA1706298 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2864+5G>A | 8291 | DYSF | Conflicting interpretations of pathogenicity | 886044131 | RCV000342909|RCV000647998|RCV000668205; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795473 | 71795473 | | | 2:g.71795473G>A | ClinGen:CA10606385 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2864+8G>A | 8291 | DYSF | Conflicting interpretations of pathogenicity | 371686795 | RCV000308748|RCV001086799|RCV001271798; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71795476 | 71795476 | | | 2:g.71795476G>A | ClinGen:CA1706300 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2865-2A>C | 8291 | DYSF | Pathogenic | 886043964 | RCV000368085|RCV000594701; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71796948 | 71796948 | | | 2:g.71796948A>C | ClinGen:CA10606168 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) | 8291 | DYSF | Likely benign | 143775913 | RCV000559921|RCV001274459; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71796968 | 71796968 | | | NC_000002.11:g.71796968C>T | ClinGen:CA1706321 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 535367520 | RCV000793819|RCV001271799|RCV003144591; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71796969 | 71796969 | | | 2:g.71796969G>A | - | | |
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) | 8291 | DYSF | Pathogenic | 202218890 | RCV000262612|RCV000725415|RCV000763505|RCV000791498|RCV003401245|RCV003469231; | N | MONDO: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,Orph | 2 | 71797014 | 71797014 | | | NC_000002.11:g.71797014C>T | ClinGen:CA1706331 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln) | 8291 | DYSF | Likely pathogenic | 752689148 | RCV002014091|RCV003314031; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797015 | 71797015 | | | 71797015 | - | | |
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 192717273 | RCV000953941|RCV001271800; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797022 | 71797022 | | | 2:g.71797022C>T | - | | |
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) | 8291 | DYSF | Uncertain significance | 151064013 | RCV000534690|RCV000732763|RCV001276434; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797023 | 71797023 | | | 2:g.71797023G>A | ClinGen:CA49745900 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 886042637 | RCV000261131|RCV003153550; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797028 | 71797028 | | | 2:g.71797028C>T | ClinGen:CA10604507 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144636654 | RCV000367959|RCV000403556|RCV000725533|RCV001079396|RCV001272822|RCV001449649|RCV001535633|RCV001810433; | N | 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:C4551973,OMIM:25 | 2 | 71797041 | 71797041 | | | 2:g.71797041A>T | ClinGen:CA242772 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys) | 8291 | DYSF | Uncertain significance | 775907195 | RCV001371611|RCV001831305; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797042 | 71797042 | | | 71797042 | - | | |
NM_001130987.2(DYSF):c.2968T>A (p.Tyr990Asn) | 8291 | DYSF | Uncertain significance | 2152814096 | RCV001563814|RCV001563813|RCV001563904; | N | 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 | 2 | 71797053 | 71797053 | | | 71797053 | - | | |
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn) | 8291 | DYSF | Uncertain significance | 200422222 | RCV001309352|RCV001507561|RCV001836285; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797059 | 71797059 | | | 71797059 | - | | |
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 142404822 | RCV000726965|RCV001081802|RCV001449654|RCV001834885; | N | 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:268 | 2 | 71797361 | 71797361 | | | 2:g.71797361C>T | ClinGen:CA1706362 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 34061568 | RCV000270967|RCV000325795|RCV000725139|RCV001084284|RCV001272823; | N | MedGen: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:268 | 2 | 71797381 | 71797381 | | | 2:g.71797381A>C | ClinGen:CA1706371 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly) | 8291 | DYSF | Uncertain significance | 1574058921 | RCV001295500|RCV001835390; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797387 | 71797387 | | | 71797387 | - | | |
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln) | 8291 | DYSF | Uncertain significance | 763925689 | RCV001215611|RCV001833880; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797392 | 71797392 | | | 2:g.71797392G>C | - | | |
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) | 8291 | DYSF | Likely pathogenic | 763925689 | RCV001263962; | N | 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 | 2 | 71797392 | 71797392 | | | 2:g.71797392G>T | - | | |
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) | 8291 | DYSF | Pathogenic/Likely pathogenic | 750028300 | RCV000666237|RCV000763506|RCV003465448; | N | 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:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MOND | 2 | 71797407 | 71797407 | | | 2:g.71797407T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307952; | N | 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 | 2 | 71797410 | 71797410 | | | 71797410 | - | | |
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) | 8291 | DYSF | Likely pathogenic | 2092343409 | RCV001263963; | N | 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 | 2 | 71797414 | 71797414 | | | 2:g.71797414G>A | - | | |
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys) | 8291 | DYSF | Uncertain significance | 755791637 | RCV000808497|RCV001825608; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797422 | 71797422 | | | 2:g.71797422G>A | - | | |
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) | 8291 | DYSF | Pathogenic | 28937581 | RCV000007059|RCV000176869|RCV000790765|RCV001232546; | N | MONDO: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 | 2 | 71797430 | 71797430 | | | NC_000002.11:g.71797430G>T | ClinGen:CA222147,UniProtKB:O75923#VAR_057857,OMIM:603009.0010 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) | 8291 | DYSF | Uncertain significance | 772518246 | RCV000176870|RCV000704398|RCV001276435|RCV002500492; | N | MedGen: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:454 | 2 | 71797444 | 71797444 | | | 2:g.71797444A>G | ClinGen:CA242960 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3067C>T (p.Arg1023Trp) | 8291 | DYSF | Uncertain significance | 778316824 | RCV000669701|RCV002531236; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71797446 | 71797446 | | | 2:g.71797446C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3080A>G (p.Glu1027Gly) | 8291 | DYSF | Uncertain significance | -1 | RCV002287916; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797459 | 71797459 | | | 71797459 | - | | |
NM_001130987.2(DYSF):c.3085+1G>T | 8291 | DYSF | Likely pathogenic | 1553555585 | RCV000590966; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797465 | 71797465 | | | NC_000002.11:g.71797465G>T | ClinGen:CA347216871 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3085+2T>C | 8291 | DYSF | Pathogenic | 886042951 | RCV000280615|RCV001037309|RCV001828208|RCV003469233; | N | 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 | 2 | 71797466 | 71797466 | | | 2:g.71797466T>C | ClinGen:CA10604913 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3086-17G>A | 8291 | DYSF | Benign | 3764971 | RCV000080262|RCV001527219|RCV001664340|RCV001664341|RCV002055162; | N | MedGen: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:2070 | 2 | 71797712 | 71797712 | | | 2:g.71797712G>A | ClinGen:CA147742 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3086-17G>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 3764971 | RCV000080263|RCV000667521|RCV002515772; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71797712 | 71797712 | | | 2:g.71797712G>T | ClinGen:CA222149 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) | 8291 | DYSF | Uncertain significance | 2152815107 | RCV002023588|RCV002507813; | N | 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:178400 | 2 | 71797735 | 71797735 | | | 71797735 | - | | |
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) | 8291 | DYSF | Pathogenic/Likely pathogenic | 756328339 | RCV000176934|RCV000724183|RCV001050002|RCV001804906|RCV003468860; | N | MONDO: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:4 | 2 | 71797738 | 71797738 | | | NC_000002.11:g.71797738A>G | ClinGen:CA275155 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup) | 8291 | DYSF | Uncertain significance | 1553555901 | RCV000670014|RCV001868238; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71797739 | 71797740 | | | 2:g.71797739_71797740insAGCATC | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met) | 8291 | DYSF | Likely benign | 768787171 | RCV000548061|RCV001829588; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797745 | 71797745 | | | 2:g.71797745C>G | ClinGen:CA1706423 | C2931687 Dysferlinopathy; | |
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 756118312 | RCV000593315|RCV000726866|RCV001238017|RCV003465338; | N | MONDO: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 | 2 | 71797746 | 71797747 | | | 2:g.71797746_71797747insC | ClinGen:CA1706424 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) | 8291 | DYSF | Likely pathogenic | 753711667 | RCV001004952; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797751 | 71797751 | | | 2:g.71797751_71797751del | - | | |
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu) | 8291 | DYSF | Uncertain significance | 770593405 | RCV000807552|RCV001825604; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797753 | 71797753 | | | 2:g.71797753C>T | - | | |
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143475751 | RCV000280424|RCV000322455|RCV000376750|RCV000648035|RCV001091458|RCV001276436; | N | MedGen: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:268 | 2 | 71797754 | 71797754 | | | 2:g.71797754C>T | ClinGen:CA1706430 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 764931697 | RCV000313635|RCV000666376|RCV000701610|RCV002494839; | N | MedGen: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:454 | 2 | 71797756 | 71797756 | | | 2:g.71797756C>T | ClinGen:CA1706432 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 398123778 | RCV000080264|RCV000263463|RCV000318489|RCV000666317|RCV001084847; | N | MedGen: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:207073 | 2 | 71797757 | 71797757 | | | 2:g.71797757G>A | ClinGen:CA222150 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val) | 8291 | DYSF | Uncertain significance | 1237272381 | RCV000685404|RCV001276437; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797759 | 71797759 | | | NC_000002.11:g.71797759A>T | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 762486621 | RCV000799347|RCV001830718|RCV002487681; | N | 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:45448; MONDO:MONDO:0 | 2 | 71797761 | 71797761 | | | 2:g.71797761C>T | - | | |
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) | 8291 | DYSF | Benign/Likely benign | 34211915 | RCV000080265|RCV000526480|RCV001276438|RCV001699117; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71797762 | 71797762 | | | 2:g.71797762G>A | ClinGen:CA147743,UniProtKB:O75923#VAR_024861 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 372880553 | RCV000310622|RCV000803161|RCV001833347|RCV003463758; | N | 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 | 2 | 71797768 | 71797768 | | | NC_000002.11:g.71797768C>T | ClinGen:CA1706435 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) | 8291 | DYSF | Uncertain significance | 2092365476 | RCV001227601|RCV001833966; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797774 | 71797774 | | | 2:g.71797774A>C | - | | |
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306506; | N | 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 | 2 | 71797778 | 71797778 | | | 71797778 | - | | |
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 1358370392 | RCV000551403|RCV001272824|RCV003144341; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71797782 | 71797782 | | | 2:g.71797782C>G | ClinGen:CA347216998 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile) | 8291 | DYSF | Uncertain significance | 2092366716 | RCV001277413; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797796 | 71797796 | | | 2:g.71797796G>A | - | | |
NM_001130987.2(DYSF):c.3160A>G (p.Thr1054Ala) | 8291 | DYSF | Uncertain significance | 550721009 | RCV000288322|RCV001823129; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797803 | 71797803 | | | 2:g.71797803A>G | ClinGen:CA1706443 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg) | 8291 | DYSF | Uncertain significance | 770883682 | RCV000707195|RCV001830567; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797804 | 71797804 | | | NC_000002.11:g.71797804C>G | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) | 8291 | DYSF | Pathogenic | 369607332 | RCV000201098|RCV000255805|RCV000526163|RCV001814110|RCV003462352; | N | 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:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745| | 2 | 71797809 | 71797809 | | | NC_000002.11:g.71797809C>T | ClinGen:CA277609 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) | 8291 | DYSF | Pathogenic/Likely pathogenic | 150877497 | RCV000493116|RCV000555598|RCV000596380|RCV001196058|RCV003469174; | N | MedGen: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:454 | 2 | 71797810 | 71797810 | | | 2:g.71797810G>A | ClinGen:CA1706448,UniProtKB:O75923#VAR_024862,ClinVar:424829 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 760443264 | RCV000351237|RCV000665378|RCV001297834|RCV003469226; | N | 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 | 2 | 71797812 | 71797812 | | | 2:g.71797812C>T | ClinGen:CA1706450 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1553556116 | RCV000591140|RCV001376861|RCV002271535|RCV003465340|RCV003338676; | N | 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:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet | 2 | 71797815 | 71797815 | | | NC_000002.11:g.71797815C>T | ClinGen:CA347217064 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144598063 | RCV000361984|RCV000665677|RCV000693473|RCV003401254; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073| | 2 | 71797818 | 71797818 | | | 2:g.71797818C>T | ClinGen:CA1706454 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 754763074 | RCV000592866|RCV001563741|RCV001563740|RCV001563742|RCV001854033; | N | 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:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070 | 2 | 71797819 | 71797819 | | | 2:g.71797819G>A | ClinGen:CA1706455 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) | 8291 | DYSF | Likely pathogenic | 2092369130 | RCV001263964; | N | 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 | 2 | 71797822 | 71797822 | | | 2:g.71797822G>A | - | | |
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) | 8291 | DYSF | Uncertain significance | 539727858 | RCV000296726|RCV002480029|RCV002519242; | N | 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:178400|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070 | 2 | 71797827 | 71797827 | | | 2:g.71797827C>T | ClinGen:CA1706457 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) | 8291 | DYSF | Uncertain significance | 779159879 | RCV000733158|RCV000807145|RCV001267332|RCV001825478|RCV002477723; | N | MedGen: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:C1850 | 2 | 71797828 | 71797828 | | | NC_000002.11:g.71797828G>A | - | | |
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 752810646 | RCV000518215|RCV001239622|RCV001834664|RCV003144306; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71797833 | 71797833 | | | NC_000002.11:g.71797833C>T | ClinGen:CA1706459 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) | 8291 | DYSF | Pathogenic/Likely pathogenic | 121908958 | RCV000007060|RCV000176936|RCV000763088|RCV000790688|RCV001229764; | N | 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, Orphanet:268; MOND | 2 | 71797834 | 71797834 | | | NC_000002.11:g.71797834G>A | ClinGen:CA222152,UniProtKB:O75923#VAR_024863,OMIM:603009.0011 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306514; | N | 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 | 2 | 71797858 | 71797858 | | | 71797857 | - | | |
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val) | 8291 | DYSF | Uncertain significance | 766204227 | RCV001225094|RCV001828794; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797861 | 71797861 | | | 2:g.71797861C>T | - | | |
NM_001130987.2(DYSF):c.3228+8_3228+33del | 8291 | DYSF | Likely benign | 1553556251 | RCV000672722|RCV001449061; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71797876 | 71797901 | | | 2:g.71797876_71797901del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3228+7C>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 534331009 | RCV000386995|RCV001088534|RCV001272825; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71797878 | 71797878 | | | 2:g.71797878C>T | ClinGen:CA1706463 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3228+8A>C | 8291 | DYSF | Likely benign | 749135257 | RCV001272826|RCV001487949; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71797879 | 71797879 | | | 2:g.71797879A>C | - | | |
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) | 8291 | DYSF | Benign/Likely benign | 398123779 | RCV000244470|RCV000352457|RCV000388477|RCV000541014|RCV001276439|RCV001664343|RCV001664342|RCV001703994; | N | MedGen: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:60 | 2 | 71801334 | 71801335 | | | 2:g.71801334_71801335insAGGCGG | ClinGen:CA1706490 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3239CGGAGG[4] (p.1080AE[4]) | 8291 | DYSF | Uncertain significance | 398123779 | RCV000668872; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801334 | 71801335 | | | 2:g.71801334_71801335insAGGCGGAGGCGG | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 562368641 | RCV001244059|RCV001836227|RCV003166527; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71801338 | 71801338 | | | 2:g.71801338C>T | - | | |
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) | 8291 | DYSF | Likely pathogenic | 1666836481 | RCV001263965; | N | 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 | 2 | 71801340 | 71801340 | | | 2:g.71801340G>T | - | | |
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308074; | N | 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 | 2 | 71801348 | 71801348 | | | 71801347 | - | | |
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1252415299 | RCV001263966|RCV001880071|RCV003462841; | N | 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:207073|MONDO:MONDO:0 | 2 | 71801352 | 71801352 | | | 2:g.71801352G>T | - | | |
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150355624 | RCV000249417|RCV000723785|RCV001086229|RCV001272827; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801366 | 71801366 | | | 2:g.71801366C>T | ClinGen:CA233933 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144936357 | RCV000323183|RCV001089268|RCV001272828; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801396 | 71801396 | | | 2:g.71801396C>T | ClinGen:CA1706509 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 764208388 | RCV000593694|RCV001034781|RCV001276440; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801403 | 71801403 | | | 2:g.71801403C>T | ClinGen:CA1706513 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3314_3316dup (p.Asp1105dup) | 8291 | DYSF | Uncertain significance | 1553361783 | RCV000673006; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801411 | 71801412 | | | 2:g.71801411_71801412insGAT | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly) | 8291 | DYSF | Uncertain significance | 1486623448 | RCV001216120|RCV001828719; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801416 | 71801416 | | | 2:g.71801416C>G | - | | |
NM_001130987.2(DYSF):c.3322CGC[5] (p.Arg1111dup) | 8291 | DYSF | Uncertain significance | 779680055 | RCV000673125|RCV002532143; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71801419 | 71801420 | | | 2:g.71801419_71801420insCCG | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3322CGC[1] (p.Arg1109_Arg1111del) | 8291 | DYSF | Uncertain significance | -1 | RCV003389382; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801420 | 71801428 | | | | - | | |
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys) | 8291 | DYSF | Uncertain significance | 377079619 | RCV000296321|RCV000689297|RCV001276441; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801421 | 71801421 | | | 2:g.71801421C>T | ClinGen:CA1706520 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys) | 8291 | DYSF | Uncertain significance | 758284713 | RCV000733159|RCV000793069|RCV001272829; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801427 | 71801427 | | | NC_000002.11:g.71801427C>T | - | | |
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys) | 8291 | DYSF | Uncertain significance | 372817333 | RCV000346849|RCV000694223|RCV001833384|RCV002519312; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71801430 | 71801430 | | | 2:g.71801430C>T | ClinGen:CA1706525 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del) | 8291 | DYSF | Uncertain significance | 1553361884 | RCV000671002; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801431 | 71801433 | | | 2:g.71801431_71801433del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) | 8291 | DYSF | Benign/Likely benign | 141536854 | RCV000153180|RCV000710128|RCV001084337|RCV001831951; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801436 | 71801436 | | | 2:g.71801436C>T | ClinGen:CA179989 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys) | 8291 | DYSF | Uncertain significance | 148171293 | RCV001299104|RCV001836264; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801439 | 71801439 | | | 71801439 | - | | |
NM_001130987.2(DYSF):c.3340C>A (p.Arg1114Ser) | 8291 | DYSF | Uncertain significance | -1 | RCV002287919; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801439 | 71801439 | | | 71801439 | - | | |
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 59915619 | RCV000116927|RCV000532523|RCV001086595|RCV001826784; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801440 | 71801440 | | | 2:g.71801440G>A | ClinGen:CA152663,UniProtKB:O75923#VAR_061170 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 147483765 | RCV000383544|RCV001085324|RCV001276442; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801442 | 71801442 | | | 2:g.71801442C>T | ClinGen:CA1706529 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His) | 8291 | DYSF | Uncertain significance | 749610930 | RCV000542825|RCV001834791; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71801443 | 71801443 | | | NC_000002.11:g.71801443G>A | ClinGen:CA1706530 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306529; | N | 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 | 2 | 71801465 | 71801465 | | | 71801464 | - | | |
NM_001130987.2(DYSF):c.3403-10G>A | 8291 | DYSF | Conflicting interpretations of pathogenicity | 116733194 | RCV000249764|RCV000725483|RCV001082993|RCV001272830; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71816713 | 71816713 | | | NC_000002.11:g.71816713G>A | ClinGen:CA1706549 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3403-2A>G | 8291 | DYSF | Pathogenic | 370874727 | RCV000277199|RCV000701150|RCV000984258|RCV003468863; | N | 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 | 2 | 71816721 | 71816721 | | | NC_000002.11:g.71816721A>G | ClinGen:CA275204 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser) | 8291 | DYSF | Uncertain significance | 202000264 | RCV001977674|RCV003146436|RCV002287902; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71816726 | 71816726 | | | 71816726 | - | | |
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=) | 8291 | DYSF | Likely benign | 146498307 | RCV000874854|RCV001830920; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71816728 | 71816728 | | | 2:g.71816728C>T | - | | |
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV003226008; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71816752 | 71816753 | | | | - | | |
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148925399 | RCV000294142|RCV000347373|RCV000727170|RCV001140788|RCV001276443; | N | 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 | 2 | 71816762 | 71816762 | | | 2:g.71816762G>A | ClinGen:CA1706568 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 959125009 | RCV001344867|RCV001831109|RCV003145594; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71816766 | 71816766 | | | 71816766 | - | | |
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=) | 8291 | DYSF | Likely benign | 778088008 | RCV001277414|RCV001439009; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71816779 | 71816779 | | | 2:g.71816779C>T | - | | |
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 576460368 | RCV000194280|RCV000664777|RCV001462615; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71816797 | 71816797 | | | 2:g.71816797G>A | ClinGen:CA208352 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn) | 8291 | DYSF | Uncertain significance | 761528558 | RCV000557323|RCV001834792; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71816813 | 71816813 | | | NC_000002.11:g.71816813G>A | ClinGen:CA1706579 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3497-33A>G | 8291 | DYSF | Pathogenic | 786205083 | RCV000007067; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817308 | 71817308 | | | NC_000002.11:g.71817308A>G | ClinGen:CA253915,OMIM:603009.0016 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) | 8291 | DYSF | Pathogenic | 398123781 | RCV000382340|RCV000535509|RCV000763089|RCV000984168|RCV003460750; | N | 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:45448; MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:2 | 2 | 71817342 | 71817343 | | | NC_000002.11:g.71817342_71817343delinsAA | ClinGen:CA222156 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 138317526 | RCV000348989|RCV001459031|RCV001835771; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817345 | 71817345 | | | 2:g.71817345G>A | ClinGen:CA1706609 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 200719174 | RCV000523566|RCV001142639|RCV001829492; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817349 | 71817349 | | | 2:g.71817349C>T | ClinGen:CA1706610 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) | 8291 | DYSF | Uncertain significance | 780134612 | RCV000598301|RCV000822828|RCV001829677|RCV002532577; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71817350 | 71817350 | | | NC_000002.11:g.71817350G>A | ClinGen:CA1706612 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 770648429 | RCV000734455|RCV000795781|RCV001830640; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817372 | 71817372 | | | NC_000002.11:g.71817372G>A | - | | |
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) | 8291 | DYSF | Pathogenic | 886042091 | RCV000518638|RCV001247365|RCV001828174|RCV003469217; | N | 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 | 2 | 71817376 | 71817376 | | | NC_000002.11:g.71817376C>T | ClinGen:CA10603799 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp) | 8291 | DYSF | Uncertain significance | 759297236 | RCV000648005|RCV000728182|RCV001276444; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817382 | 71817382 | | | 2:g.71817382C>T | ClinGen:CA1706619 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139194093 | RCV000382528|RCV000648004|RCV001272831|RCV003243035; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71817385 | 71817385 | | | 2:g.71817385G>A | ClinGen:CA1706621 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201319864 | RCV000262877|RCV001088632|RCV001272832; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817396 | 71817396 | | | 2:g.71817396G>A | ClinGen:CA1706624 | CN169374 not specified; | |
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) | 8291 | DYSF | Pathogenic | 886042504 | RCV000348399|RCV001381377|RCV001833324|RCV003105845; | N | 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 | 2 | 71817401 | 71817402 | | | 2:g.71817401_71817402insC | ClinGen:CA10604325 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) | 8291 | DYSF | Likely pathogenic | 2093222376 | RCV001263967; | N | 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 | 2 | 71817403 | 71817403 | | | 2:g.71817403A>T | - | | |
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val) | 8291 | DYSF | Uncertain significance | 1442583354 | RCV000647990|RCV001829802; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71817407 | 71817407 | | | 2:g.71817407A>T | ClinGen:CA347220862 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) | 8291 | DYSF | Pathogenic | 886042827 | RCV000359987|RCV000725414|RCV002518918|RCV003463753; | N | MONDO: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 | 2 | 71817408 | 71817409 | | | 2:g.71817408_71817409del | ClinGen:CA10604734 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) | 8291 | DYSF | Pathogenic | 766341386 | RCV000410481|RCV000517136|RCV000689015|RCV003470334; | N | MONDO: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 | 2 | 71817410 | 71817411 | | | NC_000002.11:g.71817415dup | ClinGen:CA1706625 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) | 8291 | DYSF | Pathogenic | 766341386 | RCV000201179|RCV000648007|RCV000723518|RCV003155121|RCV003462353; | N | MONDO: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:4 | 2 | 71817411 | 71817412 | | | NC_000002.11:g.71817414_71817415del | ClinVar:424774,ClinGen:CA279106 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3577C>T (p.Pro1193Ser) | 8291 | DYSF | Uncertain significance | 916964397 | RCV001277415; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825696 | 71825696 | | | 2:g.71825696C>T | - | | |
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 79899601 | RCV000116928|RCV000307614|RCV000343725|RCV000711556|RCV001082923|RCV001276445|RCV001449951; | N | MedGen: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: | 2 | 71825707 | 71825707 | | | 2:g.71825707C>T | ClinGen:CA152665 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3646A>G (p.Thr1216Ala) | 8291 | DYSF | Uncertain significance | -1 | RCV003340789; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825765 | 71825765 | | | | - | | |
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) | 8291 | DYSF | Likely pathogenic | 2093464314 | RCV001263968; | N | 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 | 2 | 71825770 | 71825770 | | | 2:g.71825770G>A | - | | |
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) | 8291 | DYSF | Pathogenic | 1380642629 | RCV000673436|RCV003465528; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71825774 | 71825774 | | | 2:g.71825774C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met) | 8291 | DYSF | Uncertain significance | 1294912316 | RCV000616371|RCV001242961|RCV001829727; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825778 | 71825778 | | | NC_000002.11:g.71825778C>T | ClinGen:CA347223930 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3665TCT[1] (p.Phe1223del) | 8291 | DYSF | Uncertain significance | 1173583014 | RCV000669993; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825784 | 71825786 | | | 2:g.71825784_71825786del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306623; | N | 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 | 2 | 71825786 | 71825792 | | | 71825785 | - | | |
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143393575 | RCV000665577|RCV000964699|RCV002460905; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202 | 2 | 71825791 | 71825791 | | | 2:g.71825791C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 143393575 | RCV001263969|RCV001780216|RCV003469492; | N | 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:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,O | 2 | 71825791 | 71825791 | | | 2:g.71825791C>A | - | | |
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148858485 | RCV000274574|RCV000725546|RCV001083505|RCV001276446|RCV001509578; | N | MedGen: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 | 2 | 71825797 | 71825797 | | | 2:g.71825797C>T | ClinGen:CA1706662 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148858485 | RCV000725593|RCV001081328|RCV001272833; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825797 | 71825797 | | | 2:g.71825797C>G | ClinGen:CA1706663 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) | 8291 | DYSF | Likely pathogenic | 773773555 | RCV001264128; | N | 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 | 2 | 71825798 | 71825798 | | | 2:g.71825798G>T | - | | |
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150942486 | RCV000727399|RCV000765698|RCV001272834|RCV001485096|RCV001563734|RCV001563735; | N | 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:178400|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,O | 2 | 71825814 | 71825814 | | | 2:g.71825814C>T | ClinGen:CA1706667 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3702del (p.Val1235fs) | 8291 | DYSF | Pathogenic | -1 | RCV002287917; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825821 | 71825821 | | | 71825820 | - | | |
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe) | 8291 | DYSF | Uncertain significance | 1392863221 | RCV001071507|RCV001276447|RCV003145341; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71825822 | 71825822 | | | 2:g.71825822G>T | - | | |
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del) | 8291 | DYSF | Uncertain significance | 748683903 | RCV000669697; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825830 | 71825835 | | | 2:g.71825830_71825835del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) | 8291 | DYSF | Uncertain significance | 368556029 | RCV000595501|RCV001064242|RCV001272835; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825835 | 71825835 | | | 2:g.71825835C>T | ClinGen:CA1706672 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu) | 8291 | DYSF | Uncertain significance | 1385670493 | RCV000820141|RCV001830800; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825838 | 71825838 | | | 2:g.71825838C>T | - | | |
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 2152855991 | RCV001814396|RCV001873812|RCV002290717; | N | Human 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:268 | 2 | 71825856 | 71825856 | | | 71825856 | - | | |
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln) | 8291 | DYSF | Uncertain significance | 747606668 | RCV000819621|RCV001272836|RCV003145201; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71825866 | 71825866 | | | 2:g.71825866T>G | - | | |
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 141720146 | RCV000723882|RCV001084642|RCV001276448; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825875 | 71825875 | | | 2:g.71825875T>C | ClinGen:CA233935 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer) | 8291 | DYSF | Likely pathogenic | 1574264671 | RCV001004973; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71825875 | 71825875 | | | 2:g.71825875_71825875del | - | | |
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr) | 8291 | DYSF | Likely benign | 556134001 | RCV001344533|RCV001825905; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71827835 | 71827835 | | | 71827835 | - | | |
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 758107024 | RCV001004979|RCV001091460|RCV001814254|RCV002551718; | N | MONDO: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:207073 | 2 | 71827837 | 71827837 | | | 2:g.71827837_71827837del | - | | |
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=) | 8291 | DYSF | Likely benign | 781758050 | RCV001277416|RCV001474614; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71827840 | 71827840 | | | 2:g.71827840C>T | - | | |
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys) | 8291 | DYSF | Uncertain significance | 369170272 | RCV000304009|RCV000401895|RCV000684979|RCV001276449|RCV001764307; | N | 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:CN517202 | 2 | 71827853 | 71827853 | | | 2:g.71827853C>T | ClinGen:CA1706704 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 2303603 | RCV000326858|RCV000517716|RCV000710129|RCV001085630; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71827854 | 71827854 | | | 2:g.71827854G>A | ClinGen:CA1706705 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) | 8291 | DYSF | Uncertain significance | 762041312 | RCV000393155|RCV001039223|RCV001276450; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71827867 | 71827867 | | | NC_000002.11:g.71827867A>G | ClinGen:CA1706709 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu) | 8291 | DYSF | Uncertain significance | 539141161 | RCV000548649|RCV001829589; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71827869 | 71827869 | | | NC_000002.11:g.71827869C>T | ClinGen:CA1706710 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 753817458 | RCV000796223|RCV001272837|RCV001507562; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71827880 | 71827880 | | | 2:g.71827880C>T | - | | |
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs) | 8291 | DYSF | Likely pathogenic | 1553376558 | RCV000669537; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71827901 | 71827901 | | | 2:g.71827901_71827901del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 202013788 | RCV000707469|RCV001830568|RCV003144573; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71827911 | 71827911 | | | NC_000002.11:g.71827911C>T | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs) | 8291 | DYSF | Likely pathogenic | 1574277160 | RCV000855441; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71827914 | 71827929 | | | 2:g.71827914_71827929del | - | | |
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His) | 8291 | DYSF | Uncertain significance | 774779883 | RCV000734980|RCV001229003|RCV001830643; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71827924 | 71827924 | | | NC_000002.11:g.71827924G>C | - | | |
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) | 8291 | DYSF | Uncertain significance | 761916273 | RCV000264009|RCV000358671|RCV000696075|RCV001507563|RCV001833464; | N | MONDO: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:268 | 2 | 71827926 | 71827926 | | | 2:g.71827926C>T | ClinGen:CA1706725 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139983909 | RCV000247034|RCV000300857|RCV000355657|RCV000725763|RCV001087720|RCV001272838; | N | MedGen: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 | 2 | 71827927 | 71827927 | | | NC_000002.11:g.71827927G>A | ClinGen:CA1706726 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) | 8291 | DYSF | Pathogenic | 763674597 | RCV000674515|RCV001784295|RCV001855610|RCV003459646; | N | MONDO: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 | 2 | 71827934 | 71827934 | | | 2:g.71827934G>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) | 8291 | DYSF | Pathogenic | 727503911 | RCV000323235|RCV000809801|RCV000984259|RCV002492572|RCV003467211; | N | 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:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268; | 2 | 71827961 | 71827961 | | | NC_000002.11:g.71827961C>T | ClinGen:CA233937 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) | 8291 | DYSF | Likely pathogenic | 1462064763 | RCV001264129; | N | 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 | 2 | 71827970 | 71827970 | | | 2:g.71827970A>T | - | | |
NM_001130987.2(DYSF):c.3897+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 1553376691 | RCV000674149|RCV001386682; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71827973 | 71827973 | | | 2:g.71827973G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3898-4C>G | 8291 | DYSF | Conflicting interpretations of pathogenicity | 555206040 | RCV000260889|RCV000275365|RCV000316173|RCV001081454|RCV001272839; | N | MONDO: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 | 2 | 71828625 | 71828625 | | | 2:g.71828625C>G | ClinGen:CA1706771 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu) | 8291 | DYSF | Uncertain significance | 767190885 | RCV001240014|RCV001834112; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71828630 | 71828630 | | | 2:g.71828630C>T | - | | |
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=) | 8291 | DYSF | Uncertain significance | 772742658 | RCV000648012|RCV001829804; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71828631 | 71828631 | | | NC_000002.11:g.71828631G>A | ClinGen:CA1706774 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr) | 8291 | DYSF | Uncertain significance | 202061751 | RCV000726938|RCV001242148|RCV001276451; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71828638 | 71828638 | | | 2:g.71828638C>T | ClinGen:CA1706778 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala) | 8291 | DYSF | Uncertain significance | 370620594 | RCV001045729|RCV001272840|RCV003145281; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71828647 | 71828647 | | | 2:g.71828647C>G | - | | |
NM_001130987.2(DYSF):c.3928-10T>C | 8291 | DYSF | Uncertain significance | 1558589946 | RCV000686084|RCV001830484; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71829896 | 71829896 | | | NC_000002.11:g.71829896T>C | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 535831045 | RCV001056589|RCV001272841|RCV003145310; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71829921 | 71829921 | | | 2:g.71829921A>G | - | | |
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 121908954 | RCV000007049|RCV000153183|RCV000509353|RCV000658868|RCV000681611|RCV001137897|RCV001563901; | N | MONDO: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:C1 | 2 | 71829924 | 71829924 | | | 2:g.71829924A>G | ClinGen:CA179991,UniProtKB:O75923#VAR_012309,OMIM:603009.0003 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=) | 8291 | DYSF | Uncertain significance | 781449138 | RCV001230870|RCV001828843; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71829935 | 71829935 | | | 2:g.71829935G>A | - | | |
NM_001130987.2(DYSF):c.3957+2T>A | 8291 | DYSF | Likely pathogenic | 1553377764 | RCV000667027; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71829937 | 71829937 | | | 2:g.71829937T>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs) | 8291 | DYSF | Likely pathogenic | 1553381945 | RCV000664892; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838386 | 71838386 | | | 2:g.71838386_71838386del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu) | 8291 | DYSF | Uncertain significance | 1185353979 | RCV001222335|RCV001833927; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838400 | 71838400 | | | 2:g.71838400C>T | - | | |
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) | 8291 | DYSF | Likely pathogenic | 1558613592 | RCV000785919; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838408 | 71838408 | | | 2:g.71838408C>T | - | | |
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) | 8291 | DYSF | Likely benign | 201966225 | RCV001423810|RCV001826234; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838422 | 71838422 | | | 71838422 | - | | |
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe) | 8291 | DYSF | Uncertain significance | 767889531 | RCV000378455|RCV001038056|RCV001833387; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838432 | 71838432 | | | 2:g.71838432G>T | ClinGen:CA1706840 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) | 8291 | DYSF | Benign | 11558179 | RCV000080280|RCV000331227|RCV000385728|RCV001140150|RCV001276452|RCV001527261; | N | MedGen: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:25 | 2 | 71838443 | 71838443 | | | 2:g.71838443C>T | ClinGen:CA147751 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 145401010 | RCV000291639|RCV000346595|RCV000419423|RCV001080538|RCV001272842|RCV001753802; | N | MedGen: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:C3661900 | 2 | 71838444 | 71838444 | | | 2:g.71838444A>G | ClinGen:CA1706842,UniProtKB:O75923#VAR_057861 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201476613 | RCV000340111|RCV001086001|RCV001820813|RCV001835749; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838454 | 71838454 | | | NC_000002.11:g.71838454C>T | ClinGen:CA1706844 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) | 8291 | DYSF | Pathogenic | 778092738 | RCV000669562|RCV001089589|RCV001868234; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71838459 | 71838459 | | | 2:g.71838459C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys) | 8291 | DYSF | Uncertain significance | 760074198 | RCV000686706|RCV001271530; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838462 | 71838462 | | | 2:g.71838462C>T | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) | 8291 | DYSF | Benign/Likely benign | 61742872 | RCV000080281|RCV000530026|RCV001271531|RCV001795103; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71838463 | 71838463 | | | 2:g.71838463G>T | ClinGen:CA147753,UniProtKB:O75923#VAR_024867 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 61742872 | RCV000733708|RCV001247790|RCV001830635; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838463 | 71838463 | | | NC_000002.11:g.71838463G>A | - | | |
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308383; | N | 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 | 2 | 71838469 | 71838469 | | | 71838468 | - | | |
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) | 8291 | DYSF | Pathogenic/Likely pathogenic | 758993965 | RCV000812166|RCV001089590|RCV001830775|RCV003461204; | N | MONDO: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:45448 | 2 | 71838474 | 71838474 | | | 2:g.71838474G>A | - | | |
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=) | 8291 | DYSF | Uncertain significance | 773542731 | RCV000648002|RCV001829803; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838476 | 71838476 | | | NC_000002.11:g.71838476G>A | ClinGen:CA1706855 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4060-7T>A | 8291 | DYSF | Uncertain significance | 753614306 | RCV000711559|RCV000815486|RCV001271532; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838588 | 71838588 | | | NC_000002.11:g.71838588T>A | - | | |
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) | 8291 | DYSF | Benign | 2303606 | RCV000080282|RCV000288114|RCV000382443|RCV000711560|RCV001140151|RCV001271533|RCV001527262|RCV001664345; | N | MedGen: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: | 2 | 71838597 | 71838597 | | | 2:g.71838597C>A | ClinGen:CA147755 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) | 8291 | DYSF | Pathogenic/Likely pathogenic | 757917335 | RCV000671892|RCV001247195|RCV001531487; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900 | 2 | 71838611 | 71838611 | | | 2:g.71838611T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139529811 | RCV000726406|RCV001086957|RCV001271534; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838641 | 71838641 | | | 2:g.71838641A>G | ClinGen:CA1706892 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) | 8291 | DYSF | Benign/Likely benign | 2303607 | RCV000080284|RCV000303528|RCV000339768|RCV000533086|RCV001271535|RCV001527263|RCV001795104; | N | MedGen: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:25 | 2 | 71838657 | 71838657 | | | 2:g.71838657C>T | ClinGen:CA147757 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) | 8291 | DYSF | Pathogenic/Likely pathogenic | 776472879 | RCV000591033|RCV002491213; | N | 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:178400 | 2 | 71838670 | 71838670 | | | NC_000002.11:g.71838670T>C | ClinGen:CA1706900 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 149182447 | RCV000331066|RCV000820404|RCV001828229; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838683 | 71838683 | | | NC_000002.11:g.71838683C>T | ClinGen:CA1706904 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met) | 8291 | DYSF | Uncertain significance | 1404000468 | RCV000671205; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838685 | 71838685 | | | 2:g.71838685G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1574340607 | RCV000993848; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838713 | 71838713 | | | 2:g.71838713_71838713del | - | | |
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=) | 8291 | DYSF | Likely benign | 555086420 | RCV000944948|RCV001274830; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838747 | 71838747 | | | 2:g.71838747C>T | - | | |
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) | 8291 | DYSF | Pathogenic | 866823474 | RCV000855418; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838751 | 71838751 | | | 2:g.71838751G>T | - | | |
NM_001130987.2(DYSF):c.4221+1G>C | 8291 | DYSF | Pathogenic | 1474151297 | RCV000671253|RCV002531273; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71838757 | 71838757 | | | 2:g.71838757G>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4221+5del | 8291 | DYSF | Likely pathogenic | 1574341049 | RCV001004971; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71838761 | 71838761 | | | 2:g.71838761_71838761del | - | | |
NM_001130987.2(DYSF):c.4221+10A>G | 8291 | DYSF | Likely benign | 1448201474 | RCV001274831|RCV001493173; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71838766 | 71838766 | | | 2:g.71838766A>G | - | | |
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys) | 8291 | DYSF | Uncertain significance | 775254512 | RCV000559081|RCV001829590; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839793 | 71839793 | | | 2:g.71839793A>G | ClinGen:CA347229226 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe) | 8291 | DYSF | Uncertain significance | 775254512 | RCV001036701|RCV001271536; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839793 | 71839793 | | | 2:g.71839793A>T | - | | |
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) | 8291 | DYSF | Pathogenic | 398123786 | RCV000537543|RCV000790760|RCV000984262|RCV002283453|RCV002490697|RCV003466984; | N | MONDO: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:178 | 2 | 71839796 | 71839797 | | | NC_000002.11:g.71839803dup | ClinGen:CA222163 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter) | 8291 | DYSF | Pathogenic | 971134497 | RCV001043809|RCV001827266; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839797 | 71839797 | | | 2:g.71839797C>A | - | | |
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 151268930 | RCV000313317|RCV000370350|RCV000517870|RCV000727268|RCV001083961|RCV001274832; | N | MedGen: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:268 | 2 | 71839801 | 71839801 | | | 2:g.71839801C>G | ClinGen:CA1706942 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 138268837 | RCV000494287|RCV000672486|RCV001085319|RCV001449591; | N | 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 | 2 | 71839802 | 71839802 | | | 2:g.71839802C>G | ClinGen:CA1706944 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His) | 8291 | DYSF | Uncertain significance | 138268837 | RCV001203031|RCV001828630|RCV003145373; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71839802 | 71839802 | | | 2:g.71839802C>A | - | | |
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 142769942 | RCV000177975|RCV001084664|RCV001274833|RCV001640271; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374 | 2 | 71839803 | 71839803 | | | 2:g.71839803C>T | ClinGen:CA244985 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys) | 8291 | DYSF | Uncertain significance | 138097846 | RCV000543049|RCV001274834|RCV003144342; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71839828 | 71839828 | | | 2:g.71839828C>T | ClinGen:CA1706950 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His) | 8291 | DYSF | Uncertain significance | 758688467 | RCV000819348|RCV001271537; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839829 | 71839829 | | | 2:g.71839829G>A | - | | |
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) | 8291 | DYSF | Pathogenic | 769721856 | RCV000272470|RCV000984261|RCV001382219; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71839831 | 71839831 | | | 2:g.71839831C>T | ClinGen:CA1706954 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4290CCG[1] (p.Arg1432del) | 8291 | DYSF | Uncertain significance | 765090357 | RCV000672706; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839838 | 71839840 | | | 2:g.71839838_71839840del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His) | 8291 | DYSF | Uncertain significance | 768354800 | RCV000690511|RCV000734645|RCV001274835|RCV002547153; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71839841 | 71839841 | | | 2:g.71839841G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 774011358 | RCV000596365|RCV001370590|RCV001829658; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839843 | 71839843 | | | 2:g.71839843C>T | ClinGen:CA1706959 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln) | 8291 | DYSF | Uncertain significance | 761337469 | RCV000557876|RCV001834794; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839844 | 71839844 | | | NC_000002.11:g.71839844G>A | ClinGen:CA1706960 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) | 8291 | DYSF | Uncertain significance | 766924837 | RCV000647985|RCV001835042|RCV002507111|RCV003144427; | N | 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; MONDO:MONDO:0011 | 2 | 71839852 | 71839852 | | | NC_000002.11:g.71839852G>A | ClinGen:CA1706964 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) | 8291 | DYSF | Pathogenic/Likely pathogenic | 398123787 | RCV000080287|RCV000177998|RCV000536105|RCV003460751; | N | 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 | 2 | 71839856 | 71839856 | | | NC_000002.11:g.71839856G>A | ClinGen:CA222164 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 377706756 | RCV000358891|RCV001140902|RCV001833383; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839870 | 71839870 | | | 2:g.71839870C>T | ClinGen:CA1706966 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=) | 8291 | DYSF | Likely benign | 758538165 | RCV000876568|RCV001274836; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839872 | 71839872 | | | 2:g.71839872C>T | - | | |
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144072850 | RCV000960106|RCV001274837; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839890 | 71839890 | | | 2:g.71839890G>A | - | | |
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310131; | N | 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 | 2 | 71839896 | 71839897 | | | 71839896 | - | | |
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310417; | N | 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 | 2 | 71839896 | 71839896 | | | 71839895 | - | | |
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser) | 8291 | DYSF | Likely benign | 757346544 | RCV001304762|RCV001835471; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839901 | 71839901 | | | 71839901 | - | | |
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) | 8291 | DYSF | Pathogenic | 886043145 | RCV000556431|RCV000597200|RCV002494847|RCV003463761; | N | 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; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784 | 2 | 71839902 | 71839902 | | | NC_000002.11:g.71839902C>G | ClinGen:CA10605167 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139411595 | RCV000278721|RCV000792442|RCV001274838|RCV002518888; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71839904 | 71839904 | | | NC_000002.11:g.71839904C>T | ClinGen:CA1706972 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 368451006 | RCV000690467|RCV001274839; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839905 | 71839905 | | | 2:g.71839905G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val) | 8291 | DYSF | Uncertain significance | 754979997 | RCV000595686|RCV001373255|RCV001834877; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839907 | 71839907 | | | 2:g.71839907C>T | ClinGen:CA1706974 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 371816429 | RCV001239752|RCV001664773|RCV001828935; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839908 | 71839908 | | | 2:g.71839908G>A | - | | |
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu) | 8291 | DYSF | Uncertain significance | 1471848144 | RCV001317165|RCV001830304; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839916 | 71839916 | | | 71839916 | - | | |
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser) | 8291 | DYSF | Uncertain significance | 151109021 | RCV001060798|RCV001827383; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839921 | 71839921 | | | 2:g.71839921C>T | - | | |
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 76576806 | RCV000116929|RCV000711561|RCV001080539|RCV001271538; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839926 | 71839926 | | | 2:g.71839926G>A | ClinGen:CA152667 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4387+3_4387+28del | 8291 | DYSF | Uncertain significance | 1553383255 | RCV000665077; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71839934 | 71839959 | | | 2:g.71839934_71839959del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 61746816 | RCV000594283|RCV001082513|RCV001829647; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71840465 | 71840465 | | | 2:g.71840465C>T | ClinGen:CA1706997 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 576130413 | RCV001264130|RCV001389481|RCV003226456; | N | 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:207073|MONDO:MONDO:0 | 2 | 71840490 | 71840490 | | | 2:g.71840490G>T | - | | |
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 367709130 | RCV000824074|RCV001271539|RCV001766755|RCV002538195; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 2 | 71840499 | 71840499 | | | 2:g.71840499C>T | - | | |
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=) | 8291 | DYSF | Likely benign | 371231895 | RCV001825817|RCV000903846; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71840501 | 71840501 | | | 2:g.71840501C>T | - | | |
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 145690047 | RCV000080289|RCV000273478|RCV000330853|RCV000539088|RCV001719834|RCV001826718; | N | MedGen: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:268 | 2 | 71840504 | 71840504 | | | 2:g.71840504C>T | ClinGen:CA222168 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 767788624 | RCV001004986|RCV002551719; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71840505 | 71840505 | | | 2:g.71840505G>A | - | | |
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) | 8291 | DYSF | Benign | 61738567 | RCV000116930|RCV000549464|RCV001271540; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71840506 | 71840506 | | | 2:g.71840506A>G | ClinGen:CA152669 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 765027886 | RCV001211296|RCV001833852|RCV003145388; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71840514 | 71840514 | | | 2:g.71840514G>A | - | | |
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) | 8291 | DYSF | Pathogenic | 1574354515 | RCV000824113|RCV001830826; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71840520 | 71840520 | | | 2:g.71840520G>T | - | | |
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) | 8291 | DYSF | Likely benign | 1476328093 | RCV001271541|RCV001478265; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71840528 | 71840528 | | | 2:g.71840528C>T | - | | |
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 758226677 | RCV001043044|RCV001277417|RCV002551526; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71840531 | 71840531 | | | 2:g.71840531C>G | - | | |
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 751456837 | RCV000895370|RCV001274840; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71840537 | 71840537 | | | 2:g.71840537C>T | - | | |
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886044411 | RCV000306643|RCV000726457|RCV003463778; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71840538 | 71840538 | | | 2:g.71840538C>T | ClinGen:CA10606721 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4464+7T>C | 8291 | DYSF | Conflicting interpretations of pathogenicity | 369949055 | RCV000269730|RCV000366694|RCV000876154|RCV001274841|RCV003144232; | N | 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:CN517202 | 2 | 71840547 | 71840547 | | | 2:g.71840547T>C | ClinGen:CA1707013 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.4465-1G>A | 8291 | DYSF | Uncertain significance | 1553389041 | RCV000673572; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71847676 | 71847676 | | | 2:g.71847676G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4478_4481dup (p.Ser1495fs) | 8291 | DYSF | Likely benign | 1553389065 | RCV000672970; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71847686 | 71847687 | | | 2:g.71847686_71847687insGTCT | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4494dup (p.Thr1499fs) | 8291 | DYSF | Likely benign | 1553389118 | RCV000666932; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71847701 | 71847702 | | | 2:g.71847701_71847702insC | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4528-2A>G | 8291 | DYSF | Likely pathogenic | 1213965862 | RCV000665741|RCV001256195|RCV001784234; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202 | 2 | 71871093 | 71871093 | | | 2:g.71871093A>G | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys) | 8291 | DYSF | Uncertain significance | 562261472 | RCV000689481|RCV001829907; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71871095 | 71871095 | | | NC_000002.11:g.71871095G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308439; | N | 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 | 2 | 71871105 | 71871106 | | | 71871104 | - | | |
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val) | 8291 | DYSF | Uncertain significance | 767309227 | RCV001219236|RCV001833901; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71871107 | 71871107 | | | 2:g.71871107A>G | - | | |
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148055736 | RCV000244684|RCV000725538|RCV001080585|RCV001271542; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71871109 | 71871109 | | | NC_000002.11:g.71871109C>T | ClinGen:CA1707050 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | -1 | RCV003340929|RCV003466067; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71871117 | 71871117 | | | | - | | |
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) | 8291 | DYSF | Pathogenic | 766016391 | RCV000178461|RCV000527540|RCV000724391|RCV002485170|RCV003468866; | N | MONDO: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:454 | 2 | 71871118 | 71871118 | | | NC_000002.11:g.71871118G>A | ClinGen:CA275268 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 544993852 | RCV000327172|RCV000356459|RCV000379509|RCV000542418|RCV001833323; | N | MONDO: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:268 | 2 | 71871127 | 71871127 | | | 2:g.71871127C>T | ClinGen:CA1707053 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) | 8291 | DYSF | Uncertain significance | 1572921644 | RCV001004951|RCV001198481; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400 | 2 | 71871135 | 71871135 | | | 2:g.71871135C>A | - | | |
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val) | 8291 | DYSF | Uncertain significance | 779344280 | RCV001228757|RCV001828828; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71871137 | 71871137 | | | 2:g.71871137A>G | - | | |
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) | 8291 | DYSF | Uncertain significance | 747398354 | RCV000487916|RCV000822931|RCV001835824; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71871158 | 71871158 | | | NC_000002.11:g.71871158G>A | ClinGen:CA1707058 | CN517202 not provided; | |
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150139276 | RCV000530924|RCV000664797|RCV000725642|RCV003235177; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MedGen:CN169374 | 2 | 71871164 | 71871164 | | | 2:g.71871164T>C | ClinGen:CA1707060 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310270; | N | 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 | 2 | 71871166 | 71871166 | | | 71871166 | - | | |
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 182185801 | RCV000287411|RCV000321328|RCV001138012|RCV003144233|RCV001828334; | N | 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:268 | 2 | 71871175 | 71871175 | | | 2:g.71871175G>T | ClinGen:CA1707061 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 7573406 | RCV000080291|RCV000281446|RCV000378288|RCV000542076|RCV001271543|RCV001449941; | N | MedGen: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:25 | 2 | 71871188 | 71871188 | | | 2:g.71871188C>T | ClinGen:CA147760 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4626+1G>A | 8291 | DYSF | Likely pathogenic | 1558708492 | RCV000786063; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71871194 | 71871194 | | | 2:g.71871194G>A | - | | |
NM_001130987.2(DYSF):c.4626+10C>T | 8291 | DYSF | Likely benign | 1420815050 | RCV001274842|RCV001441737; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71871203 | 71871203 | | | 2:g.71871203C>T | - | | |
NM_001130987.2(DYSF):c.4626+43A>G | 8291 | DYSF | Benign | 84182 | RCV000254207|RCV000839719|RCV001527268|RCV001660237|RCV001660236; | N | MedGen: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:178400 | 2 | 71871236 | 71871236 | | | NC_000002.11:g.71871236A>G | ClinGen:CA1707077 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143895253 | RCV000552425|RCV000595695|RCV001274843|RCV001507565; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71883292 | 71883292 | | | 2:g.71883292G>A | ClinGen:CA1707094 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 142483266 | RCV000245997|RCV000724977|RCV001083095|RCV001274844; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883294 | 71883294 | | | 2:g.71883294C>G | ClinGen:CA245628 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 757820496 | RCV000696171|RCV001784229|RCV001810464|RCV003235334|RCV003459566; | N | 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; MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784 | 2 | 71883296 | 71883296 | | | 2:g.71883296A>G | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro) | 8291 | DYSF | Uncertain significance | 2094765878 | RCV001367502|RCV001831276; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883301 | 71883301 | | | 71883301 | - | | |
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310318; | N | 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 | 2 | 71883308 | 71883310 | | | 71883308 | - | | |
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp) | 8291 | DYSF | Uncertain significance | 2094766394 | RCV001277418; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883323 | 71883323 | | | 2:g.71883323C>A | - | | |
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1553408378 | RCV000665389|RCV001861743|RCV003465440; | N | 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 | 2 | 71883335 | 71883335 | | | 2:g.71883335_71883335del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs) | 8291 | DYSF | Likely pathogenic | 1572994572 | RCV001004981; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883355 | 71883355 | | | 2:g.71883355_71883355del | - | | |
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 76086153 | RCV000193503|RCV000560015|RCV001271544|RCV001719835|RCV003398673; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900| | 2 | 71883359 | 71883359 | | | 2:g.71883359A>C | ClinVar:424775,ClinGen:CA207041,UniProtKB:O75923#VAR_057865 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) | 8291 | DYSF | Likely pathogenic | 770905160 | RCV000656078; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883366 | 71883366 | | | NC_000002.11:g.71883366C>G | ClinGen:CA347219460 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) | 8291 | DYSF | Uncertain significance | 375698433 | RCV000647982|RCV000669328|RCV001785690|RCV002252192; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900| | 2 | 71883367 | 71883367 | | | 2:g.71883367C>T | ClinGen:CA1707106 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser) | 8291 | DYSF | Uncertain significance | 1463145288 | RCV000799796|RCV001830719|RCV003144613; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71883370 | 71883370 | | | 2:g.71883370G>A | - | | |
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=) | 8291 | DYSF | Likely benign | 775026383 | RCV000876298|RCV001274845; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883375 | 71883375 | | | 2:g.71883375G>A | - | | |
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144422408 | RCV000729424|RCV001243182|RCV001825453; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883377 | 71883377 | | | NC_000002.11:g.71883377C>T | - | | |
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro) | 8291 | DYSF | Uncertain significance | 751126464 | RCV000799385|RCV001825576; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883380 | 71883380 | | | 2:g.71883380A>C | - | | |
NM_001130987.2(DYSF):c.4755+5A>C | 8291 | DYSF | Uncertain significance | 2094768502 | RCV001277419; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883425 | 71883425 | | | 2:g.71883425A>C | - | | |
NM_001130987.2(DYSF):c.4755+10C>T | 8291 | DYSF | Likely benign | 139099979 | RCV000892729|RCV001274846; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71883430 | 71883430 | | | 2:g.71883430C>T | - | | |
NM_001130987.2(DYSF):c.4756-3C>T | 8291 | DYSF | Likely benign | 371227553 | RCV000334866|RCV000529091|RCV001083939|RCV001833355; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886005 | 71886005 | | | 2:g.71886005C>T | ClinGen:CA1707142 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 149768871 | RCV000306735|RCV000338437|RCV000406757|RCV001055238|RCV002519192|RCV001833354; | N | MedGen: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:268 | 2 | 71886032 | 71886032 | | | 2:g.71886032C>T | ClinGen:CA1707143 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) | 8291 | DYSF | Pathogenic | 778065845 | RCV000326568|RCV001070067|RCV001828234|RCV003469240; | N | 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 | 2 | 71886053 | 71886054 | | | NC_000002.11:g.71886054dup | ClinGen:CA1707147 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val) | 8291 | DYSF | Uncertain significance | 768130248 | RCV000796924|RCV001825557; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886053 | 71886053 | | | 2:g.71886053A>G | - | | |
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) | 8291 | DYSF | Uncertain significance | 1558750109 | RCV000711562|RCV001830578; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886062 | 71886062 | | | NC_000002.11:g.71886062A>G | - | | |
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr) | 8291 | DYSF | Uncertain significance | 1298041271 | RCV000696035|RCV001274847; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886071 | 71886071 | | | NC_000002.11:g.71886071C>T | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) | 8291 | DYSF | Likely benign | 771742780 | RCV000841819|RCV001274848|RCV001494748; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71886073 | 71886073 | | | 2:g.71886073C>T | - | | |
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1573009747 | RCV001004961|RCV001862745; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71886074 | 71886074 | | | 2:g.71886074C>T | - | | |
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) | 8291 | DYSF | Uncertain significance | 933715192 | RCV000513482|RCV000822123|RCV001834648; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886099 | 71886099 | | | NC_000002.11:g.71886099A>G | ClinGen:CA49765139 | CN517202 not provided; | |
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 62145939 | RCV000080294|RCV000279905|RCV000351217|RCV000538106|RCV001271545|RCV001795106; | N | MedGen: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:C3661900 | 2 | 71886100 | 71886100 | | | 2:g.71886100G>A | ClinGen:CA147764 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 752946123 | RCV000778625|RCV002477780|RCV003230588; | N | 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:178400|MedGen:CN1693 | 2 | 71886110 | 71886110 | | | NC_000002.11:g.71886110C>T | - | | |
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 571364996 | RCV000648011|RCV001563808|RCV001563809|RCV001563807; | N | 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:45448 | 2 | 71886119 | 71886119 | | | NC_000002.11:g.71886119A>G | ClinGen:CA1707160 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) | 8291 | DYSF | Pathogenic | 398123789 | RCV000178524|RCV000790739|RCV000794872|RCV003466985; | N | MONDO: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 | 2 | 71886125 | 71886125 | | | NC_000002.11:g.71886125C>T | ClinGen:CA222174 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 538781815 | RCV000287690|RCV000791060|RCV001062505|RCV001271546|RCV002518115; | N | MedGen:C3661900|MedGen:CN239317|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71886126 | 71886126 | | | NC_000002.11:g.71886126G>A | ClinGen:CA1707161 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter) | 8291 | DYSF | Likely pathogenic | 2094828804 | RCV001264131; | N | 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 | 2 | 71886140 | 71886140 | | | 2:g.71886140C>T | - | | |
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 772664716 | RCV000647992|RCV000726189|RCV001271547; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886156 | 71886156 | | | 2:g.71886156A>G | ClinGen:CA1707164 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 141704244 | RCV000080297|RCV000548178|RCV001271548|RCV001824600|RCV002222381|RCV003466986; | N | MedGen: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:45448 | 2 | 71886163 | 71886163 | | | 2:g.71886163G>T | ClinGen:CA222176 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=) | 8291 | DYSF | Uncertain significance | 141704244 | RCV000387010|RCV001241552|RCV001828247; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71886163 | 71886163 | | | 2:g.71886163G>A | ClinGen:CA1707168 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309767; | N | 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 | 2 | 71887701 | 71887701 | | | 71887701 | - | | |
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 138357301 | RCV000558437|RCV000592365|RCV001271549; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71887714 | 71887714 | | | 2:g.71887714A>G | ClinGen:CA1707194 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 146384562 | RCV000245703|RCV000711564|RCV001085998|RCV001274849|RCV001449590|RCV002466461; | N | MedGen: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:PS25 | 2 | 71887715 | 71887715 | | | 2:g.71887715T>C | ClinGen:CA275275 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys) | 8291 | DYSF | Likely benign | 759505768 | RCV000551520|RCV001834795; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71887748 | 71887748 | | | 2:g.71887748A>G | ClinGen:CA1707199 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 2094861411 | RCV001264132|RCV002541614; | N | 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:207073 | 2 | 71887758 | 71887758 | | | 2:g.71887758C>A | - | | |
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144383140 | RCV000348647|RCV001240482|RCV001833403|RCV002494891; | N | MedGen: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:454 | 2 | 71887760 | 71887760 | | | 2:g.71887760C>T | ClinGen:CA1707202 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 142301132 | RCV000260045|RCV001274850|RCV001088177; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71887761 | 71887761 | | | NC_000002.11:g.71887761G>T | ClinGen:CA1707204 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=) | 8291 | DYSF | Likely benign | 142301132 | RCV001277420|RCV001499751; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71887761 | 71887761 | | | 2:g.71887761G>A | - | | |
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) | 8291 | DYSF | Likely benign | 963646326 | RCV001472481|RCV001832270; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71887762 | 71887762 | | | 2:g.71887762C>T | - | | |
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) | 8291 | DYSF | Pathogenic | 786200896 | RCV000007053|RCV000338549|RCV000806281|RCV003466823; | N | MONDO: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 | 2 | 71887767 | 71887771 | | | NC_000002.11:g.71887767_71887771delinsCCCC | ClinGen:CA253904,OMIM:603009.0005 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) | 8291 | DYSF | Pathogenic | 1156805286 | RCV001731181|RCV001780437|RCV002496058; | N | MONDO: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:253601 | 2 | 71887767 | 71887767 | | | 71887766 | - | | |
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 147056383 | RCV000080298|RCV000669830|RCV000864868|RCV001086563; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71887771 | 71887771 | | | 2:g.71887771G>A | ClinGen:CA222178 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter) | 8291 | DYSF | Likely pathogenic | 868779799 | RCV001264133; | N | 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 | 2 | 71887777 | 71887777 | | | 2:g.71887777G>T | - | | |
NM_001130987.2(DYSF):c.5003+1249G>T | 8291 | DYSF | Pathogenic | 886042110 | RCV000353624|RCV000591407|RCV001855080|RCV003469219; | N | 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 | 2 | 71889030 | 71889030 | | | 2:g.71889030G>T | ClinGen:CA10603819 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5004-37C>T | 8291 | DYSF | Benign | 2303599 | RCV000250447|RCV000839722|RCV001527269|RCV001660238|RCV001660239; | N | MedGen: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:268 | 2 | 71891361 | 71891361 | | | NC_000002.11:g.71891361C>T | ClinGen:CA1707217 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 151276652 | RCV000178575|RCV001079331|RCV001835707; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891404 | 71891404 | | | 2:g.71891404C>T | ClinGen:CA245726 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln) | 8291 | DYSF | Uncertain significance | 748528655 | RCV001563810|RCV001563811|RCV001563812; | N | 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 | 2 | 71891427 | 71891427 | | | 71891427 | - | | |
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309037; | N | 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 | 2 | 71891440 | 71891441 | | | 71891439 | - | | |
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) | 8291 | DYSF | Likely benign | 2094956948 | RCV001499806|RCV001832654; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891446 | 71891446 | | | 71891446 | - | | |
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val) | 8291 | DYSF | Uncertain significance | 886042492 | RCV000338363|RCV001352545|RCV001828189; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891450 | 71891450 | | | 2:g.71891450C>G | ClinGen:CA10604309 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5071CTC[1] (p.Leu1692del) | 8291 | DYSF | Uncertain significance | 1163037004 | RCV000673615; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891464 | 71891466 | | | 2:g.71891464_71891466del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 149087116 | RCV000356086|RCV001081951|RCV001274103; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891488 | 71891488 | | | 2:g.71891488C>T | ClinGen:CA1707241 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser) | 8291 | DYSF | Uncertain significance | 375068646 | RCV000354786|RCV000792613|RCV001828216; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891489 | 71891489 | | | NC_000002.11:g.71891489G>A | ClinGen:CA1707243 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs) | 8291 | DYSF | Pathogenic | -1 | RCV002287918; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891490 | 71891509 | | | 71891490 | - | | |
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143059463 | RCV000670528|RCV001247777|RCV001507566|RCV002477502|RCV002271559; | N | MONDO: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; | 2 | 71891496 | 71891496 | | | 2:g.71891496C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn) | 8291 | DYSF | Uncertain significance | 781415745 | RCV001215615|RCV001833881; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891504 | 71891504 | | | 2:g.71891504G>A | - | | |
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1057519132 | RCV000416117|RCV000984169|RCV001384057|RCV003470372; | N | 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 | 2 | 71891531 | 71891531 | | | 2:g.71891531_71891531del | ClinGen:CA16043769 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 141137410 | RCV000310014|RCV000362344|RCV000388999|RCV000493108|RCV000986770|RCV001079670|RCV001526431; | N | MONDO: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: | 2 | 71891537 | 71891537 | | | 2:g.71891537G>T | ClinGen:CA1707253 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 771735871 | RCV000554512|RCV001834796|RCV001508442; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71891540 | 71891540 | | | NC_000002.11:g.71891540C>T | ClinGen:CA1707255 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His) | 8291 | DYSF | Likely benign | 138472236 | RCV000532679|RCV001834797; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891541 | 71891541 | | | NC_000002.11:g.71891541G>A | ClinGen:CA1707257 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 753279446 | RCV000668653|RCV002507163|RCV002532078|RCV003459599; | N | 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:0011721,MedGen:C1847532,OMIM:606768, Orphanet:178400|MOND | 2 | 71891544 | 71891544 | | | 2:g.71891544G>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5156_5174+4dup | 8291 | DYSF | Pathogenic | 786205082 | RCV000007054; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891547 | 71891548 | | | NC_000002.11:g.71891550_71891572dup | ClinGen:CA253905,OMIM:603009.0006 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 753176482 | RCV001563908|RCV001563907|RCV001563909|RCV002569021; | N | 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:207073 | 2 | 71891552 | 71891552 | | | 71891552 | - | | |
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 758992291 | RCV001264134|RCV003145501|RCV003399036|RCV003469493; | N | 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:C3661900|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600 | 2 | 71891555 | 71891555 | | | 2:g.71891555C>T | - | | |
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307085; | N | 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 | 2 | 71891561 | 71891562 | | | 71891560 | - | | |
NM_001130987.2(DYSF):c.5174+2T>C | 8291 | DYSF | Likely pathogenic | 1553412826 | RCV000673134|RCV003459640; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71891570 | 71891570 | | | 2:g.71891570T>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5174+6_5174+7dup | 8291 | DYSF | Uncertain significance | 1553412837 | RCV000669967; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891572 | 71891573 | | | 2:g.71891572_71891573insGT | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5174+5G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 745891180 | RCV000007057|RCV001781198|RCV001851715|RCV002298436|RCV003466824; | N | MONDO: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:4 | 2 | 71891573 | 71891573 | | | NC_000002.11:g.71891573G>A | ClinGen:CA253906,OMIM:603009.0008 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5174+8G>A | 8291 | DYSF | Likely benign | 1573054048 | RCV001457432|RCV001827112; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71891576 | 71891576 | | | 2:g.71891576G>A | - | | |
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala) | 8291 | DYSF | Uncertain significance | 146153532 | RCV000538423|RCV001834798; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892297 | 71892297 | | | 2:g.71892297G>C | ClinGen:CA1707283 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5183C>T (p.Pro1728Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | -1 | RCV003074963|RCV003340619; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892300 | 71892300 | | | NC_000002.11:g.71892300C>T | - | | |
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307253; | N | 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 | 2 | 71892310 | 71892310 | | | 71892310 | - | | |
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) | 8291 | DYSF | Pathogenic/Likely pathogenic | 863225021 | RCV000201092|RCV000553055|RCV000723532|RCV002509296|RCV003468915; | N | MONDO: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:4 | 2 | 71892311 | 71892311 | | | NC_000002.11:g.71892311C>T | ClinGen:CA279083,UniProtKB:O75923#VAR_057871 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln) | 8291 | DYSF | Pathogenic/Likely pathogenic | 779987458 | RCV000648020|RCV000672247|RCV003469178; | N | 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 | 2 | 71892312 | 71892312 | | | 2:g.71892312G>A | ClinVar:424774,ClinGen:CA351294,UniProtKB:O75923#VAR_024870 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro) | 8291 | DYSF | Likely pathogenic | -1 | RCV003307365; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892312 | 71892312 | | | | - | | |
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1558771348 | RCV000758200|RCV000808887|RCV003461013; | N | 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 | 2 | 71892316 | 71892316 | | | NC_000002.11:g.71892317del | - | | |
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886044422 | RCV000291296|RCV000726461|RCV001859715; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71892317 | 71892317 | | | 2:g.71892317C>T | ClinGen:CA10606735 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys) | 8291 | DYSF | Likely benign | 758206608 | RCV001035975|RCV001827215; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892323 | 71892323 | | | 2:g.71892323C>T | - | | |
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 149408006 | RCV000595675|RCV001243854|RCV001829645; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892333 | 71892333 | | | 2:g.71892333A>T | ClinGen:CA1707293 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe) | 8291 | DYSF | Likely benign | 575920691 | RCV001274851|RCV001068212; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71892344 | 71892344 | | | 2:g.71892344C>T | - | | |
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=) | 8291 | DYSF | Likely benign | 1573061003 | RCV000980130|RCV001832276; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892352 | 71892352 | | | 2:g.71892352C>T | - | | |
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) | 8291 | DYSF | Uncertain significance | 199827126 | RCV001277421|RCV002542870|RCV002480888; | N | 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:45448; MONDO:MONDO:0 | 2 | 71892353 | 71892353 | | | 2:g.71892353C>G | - | | |
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=) | 8291 | DYSF | Likely benign | 762447573 | RCV001439533|RCV001826997; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892355 | 71892355 | | | 2:g.71892355G>A | - | | |
NM_001130987.2(DYSF):c.5239C>T (p.Gln1747Ter) | 8291 | DYSF | Likely pathogenic | 1342179740 | RCV001264135; | N | 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 | 2 | 71892356 | 71892356 | | | 2:g.71892356C>T | - | | |
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002307158; | N | 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 | 2 | 71892366 | 71892367 | | | 71892365 | - | | |
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter) | 8291 | DYSF | Likely pathogenic | 2094975129 | RCV001264255; | N | 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 | 2 | 71892368 | 71892368 | | | 2:g.71892368A>T | - | | |
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310120; | N | 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 | 2 | 71892372 | 71892372 | | | 71892371 | - | | |
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer) | 8291 | DYSF | Likely pathogenic | -1 | RCV003338182|RCV003466068; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71892377 | 71892392 | | | | - | | |
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe) | 8291 | DYSF | Uncertain significance | 755108809 | RCV000329796|RCV000688227|RCV001274104; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892381 | 71892381 | | | 2:g.71892381A>T | ClinGen:CA1707305 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310053; | N | 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 | 2 | 71892382 | 71892382 | | | 71892382 | - | | |
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148541407 | RCV000302512|RCV000547122|RCV001274105|RCV001531488; | N | MedGen:CN169374|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71892383 | 71892383 | | | 2:g.71892383C>T | ClinGen:CA1707306 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 957111625 | RCV000695255|RCV001274106|RCV002493198|RCV003163191; | N | 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:45448; MONDO:MONDO:0 | 2 | 71892384 | 71892384 | | | NC_000002.11:g.71892384G>A | - | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro) | 8291 | DYSF | Uncertain significance | 746919714 | RCV000328882|RCV000557258|RCV001833407; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892386 | 71892386 | | | 2:g.71892386A>C | ClinGen:CA1707307 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys) | 8291 | DYSF | Likely benign | 757240900 | RCV000796972|RCV001830714; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892392 | 71892392 | | | 2:g.71892392C>T | - | | |
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 147678255 | RCV000689268|RCV000711566|RCV001274852|RCV003278732; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71892393 | 71892393 | | | 2:g.71892393G>A | ClinGen:CA1707309 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306561; | N | 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 | 2 | 71892410 | 71892410 | | | 71892410 | - | | |
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter) | 8291 | DYSF | Likely pathogenic | 2094975881 | RCV001264256; | N | 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 | 2 | 71892413 | 71892413 | | | 2:g.71892413G>T | - | | |
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter) | 8291 | DYSF | Likely pathogenic | 2094976185 | RCV001264257; | N | 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 | 2 | 71892425 | 71892425 | | | 2:g.71892425G>T | - | | |
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter) | 8291 | DYSF | Pathogenic/Likely pathogenic | 762398889 | RCV001058448|RCV003152748|RCV003467792; | N | 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 | 2 | 71892428 | 71892428 | | | 2:g.71892428G>T | - | | |
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter) | 8291 | DYSF | Likely pathogenic | 2094976441 | RCV001264258; | N | 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 | 2 | 71892434 | 71892434 | | | 2:g.71892434G>T | - | | |
NM_001130987.2(DYSF):c.5317+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 773386253 | RCV000647996|RCV000733066|RCV000669143|RCV002499105; | N | MONDO: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; | 2 | 71892435 | 71892435 | | | NC_000002.11:g.71892435G>A | ClinGen:CA1707318 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5317+6C>G | 8291 | DYSF | Uncertain significance | 1289453214 | RCV001349669|RCV001825953; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71892440 | 71892440 | | | 71892440 | - | | |
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) | 8291 | DYSF | Pathogenic | 121908961 | RCV000007065; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71894506 | 71894506 | | | 2:g.71894506A>G | ClinGen:CA253911,OMIM:603009.0014 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 145272777 | RCV000374736|RCV000778917|RCV000664874|RCV001329706|RCV001563739; | N | 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:0011721,MedGen:C1847532,OMIM:606768, Orphanet:1784 | 2 | 71894521 | 71894521 | | | 2:g.71894521C>A | ClinGen:CA1707338 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser) | 8291 | DYSF | Uncertain significance | 1573078295 | RCV000811137|RCV001830772; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71894524 | 71894524 | | | 2:g.71894524A>G | - | | |
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 545645581 | RCV000665182|RCV000711567|RCV002531059; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71894550 | 71894550 | | | 2:g.71894550C>T | ClinGen:CA1707345 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 531935195 | RCV000647987|RCV001276860|RCV003144428; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71894551 | 71894551 | | | 2:g.71894551G>A | ClinGen:CA1707346 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5375A>G (p.His1792Arg) | 8291 | DYSF | Uncertain significance | -1 | RCV002287922; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71894563 | 71894563 | | | 71894563 | - | | |
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala) | 8291 | DYSF | Uncertain significance | 753644501 | RCV001325837|RCV001831009; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71894566 | 71894566 | | | 71894566 | - | | |
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 370866476 | RCV000178627|RCV000813699|RCV001826908|RCV003165373; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71894577 | 71894577 | | | NC_000002.11:g.71894577C>G | ClinGen:CA245812 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) | 8291 | DYSF | Pathogenic | 2095035479 | RCV001034708; | N | 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 | 2 | 71894593 | 71894593 | | | 2:g.71894593_71894593del | - | | |
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met) | 8291 | DYSF | Uncertain significance | 773089790 | RCV001325082|RCV001830998|RCV002546124; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71894598 | 71894598 | | | 71894598 | - | | |
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) | 8291 | DYSF | Pathogenic/Likely pathogenic | 746243052 | RCV000294536|RCV000725796|RCV000817667|RCV003114448|RCV003469237; | N | MONDO: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:4 | 2 | 71894607 | 71894607 | | | NC_000002.11:g.71894607C>T | ClinGen:CA1707356 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 148860301 | RCV000266653|RCV000725114|RCV000757894|RCV001141002|RCV001810440|RCV003463743; | N | MedGen: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:2536 | 2 | 71894608 | 71894608 | | | 2:g.71894608G>A | ClinGen:CA1707357 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 137855767 | RCV000289625|RCV001088815|RCV001274107; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71894612 | 71894612 | | | 2:g.71894612C>T | ClinGen:CA1707358 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002309064; | N | 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 | 2 | 71894621 | 71894621 | | | 71894620 | - | | |
NM_001130987.2(DYSF):c.5457+1G>A | 8291 | DYSF | Likely pathogenic | 1553414413 | RCV000672671; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71894646 | 71894646 | | | 2:g.71894646G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5458-5C>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 780391061 | RCV000872858|RCV001276861|RCV002064714; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71895879 | 71895879 | | | 2:g.71895879C>T | - | | |
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro) | 8291 | DYSF | Uncertain significance | 727503914 | RCV000153187|RCV001065646|RCV001826825; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71895909 | 71895909 | | | 2:g.71895909T>C | ClinGen:CA233944 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser) | 8291 | DYSF | Uncertain significance | 145832952 | RCV000560446|RCV000666060|RCV000726065; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71895914 | 71895914 | | | 2:g.71895914C>T | ClinGen:CA1707399 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=) | 8291 | DYSF | Likely benign | 759536240 | RCV001403285|RCV001825808; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71895916 | 71895916 | | | 2:g.71895916G>A | - | | |
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 139879284 | RCV000725163|RCV001085921|RCV001276862; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71895929 | 71895929 | | | 2:g.71895929C>T | ClinGen:CA1707403 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln) | 8291 | DYSF | Uncertain significance | 762675721 | RCV000522727|RCV001046572|RCV001829500; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71895930 | 71895930 | | | 2:g.71895930G>A | ClinGen:CA1707404 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) | 8291 | DYSF | Pathogenic | 1558783870 | RCV000779597; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71895940 | 71895941 | | | NC_000002.11:g.71895942_71895943dup | - | | |
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1553415211 | RCV000667881|RCV003459589; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71895953 | 71895954 | | | 2:g.71895953_71895954insC | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) | 8291 | DYSF | Uncertain significance | 886056283 | RCV000269990|RCV000322753|RCV001141003|RCV001828335|RCV003144234; | N | 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:CN517202 | 2 | 71895954 | 71895954 | | | 2:g.71895954C>T | ClinGen:CA10616119 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp) | 8291 | DYSF | Uncertain significance | 369627849 | RCV000594588|RCV001563805|RCV001563806|RCV001563804|RCV002532622; | N | 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:45448|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070 | 2 | 71895959 | 71895959 | | | 2:g.71895959C>T | ClinGen:CA1707413 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln) | 8291 | DYSF | Uncertain significance | 533781748 | RCV001344107|RCV001825900|RCV003145592; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71895960 | 71895960 | | | 71895960 | - | | |
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) | 8291 | DYSF | Pathogenic/Likely pathogenic | 786205084 | RCV000007073|RCV000723469|RCV001215439|RCV002476993; | N | MONDO: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:454 | 2 | 71895972 | 71895972 | | | NC_000002.11:g.71895972G>A | ClinGen:CA253922,OMIM:603009.0022 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5546+7T>C | 8291 | DYSF | Likely benign | 1573092033 | RCV001276863|RCV001447514; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71895979 | 71895979 | | | 2:g.71895979T>C | - | | |
NM_001130987.2(DYSF):c.5547-2A>G | 8291 | DYSF | Pathogenic/Likely pathogenic | 1238293747 | RCV001256196|RCV002272435; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896240 | 71896240 | | | 2:g.71896240A>G | - | | |
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 1280185461 | RCV000673454|RCV001141004; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71896252 | 71896252 | | | 2:g.71896252C>T | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe) | 8291 | DYSF | Pathogenic/Likely pathogenic | 886042584 | RCV000595427|RCV000725239|RCV003463747; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71896256 | 71896256 | | | 2:g.71896256G>T | ClinGen:CA10604436 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys) | 8291 | DYSF | Likely pathogenic | 1573094789 | RCV000855417; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896266 | 71896266 | | | 2:g.71896266G>C | - | | |
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala) | 8291 | DYSF | Uncertain significance | 886043339 | RCV001325234|RCV001830370; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896280 | 71896280 | | | 71896280 | - | | |
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro) | 8291 | DYSF | Uncertain significance | 768704227 | RCV001060004|RCV001832537; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896286 | 71896286 | | | 2:g.71896286T>C | - | | |
NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln) | 8291 | DYSF | Uncertain significance | 768704227 | RCV001563952|RCV001563953|RCV001563951; | N | 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 | 2 | 71896286 | 71896286 | | | 71896286 | - | | |
NM_001130987.2(DYSF):c.5605C>T (p.Leu1869Phe) | 8291 | DYSF | Uncertain significance | 1486691301 | RCV001563736|RCV001563737|RCV001563738; | N | 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 | 2 | 71896300 | 71896300 | | | 71896300 | - | | |
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 199649417 | RCV000648015|RCV001276864|RCV002222581|RCV003144430; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN169374|MedGen:CN517202 | 2 | 71896304 | 71896304 | | | NC_000002.11:g.71896304C>T | ClinGen:CA1707445 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter) | 8291 | DYSF | Likely pathogenic | 2095073059 | RCV001264259; | N | 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 | 2 | 71896312 | 71896312 | | | 2:g.71896312A>T | - | | |
NM_001130987.2(DYSF):c.5621del (p.Met1874fs) | 8291 | DYSF | Pathogenic | 2152956005 | RCV002267704; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896316 | 71896316 | | | 71896315 | - | | |
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 577921112 | RCV000283009|RCV000726377|RCV001084464|RCV001276865; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896320 | 71896320 | | | 2:g.71896320C>T | ClinGen:CA1707450 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) | 8291 | DYSF | Pathogenic/Likely pathogenic | 398123794 | RCV000178688|RCV000790680|RCV001384247|RCV001814049|RCV003466987; | N | 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:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745| | 2 | 71896321 | 71896321 | | | NC_000002.11:g.71896321G>A | ClinGen:CA222190,UniProtKB:O75923#VAR_057874 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr) | 8291 | DYSF | Uncertain significance | 191052325 | RCV001238123|RCV001828896; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896325 | 71896325 | | | 2:g.71896325T>C | - | | |
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter) | 8291 | DYSF | Likely pathogenic | 1320752132 | RCV001264260; | N | 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 | 2 | 71896333 | 71896333 | | | 2:g.71896333A>T | - | | |
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) | 8291 | DYSF | Pathogenic | 1131692158 | RCV000494731; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896337 | 71896337 | | | 2:g.71896337G>A | ClinGen:CA347223179 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5642+3dup | 8291 | DYSF | Uncertain significance | 1341734203 | RCV000671083|RCV001059454; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71896339 | 71896340 | | | 2:g.71896339_71896340insA | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5643-15A>G | 8291 | DYSF | Uncertain significance | -1 | RCV002289295; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896720 | 71896720 | | | 71896720 | - | | |
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) | 8291 | DYSF | Likely pathogenic | 1553416039 | RCV000677684|RCV000826104; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71896742 | 71896742 | | | NC_000002.11:g.71896742del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs) | 8291 | DYSF | Pathogenic | -1 | RCV002465063; | N | 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 | 2 | 71896772 | 71896773 | | | NC_000002.11:g.71896772_71896773insC | - | | |
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His) | 8291 | DYSF | Uncertain significance | 777543798 | RCV001047682|RCV001274108; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896781 | 71896781 | | | 2:g.71896781T>C | - | | |
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) | 8291 | DYSF | Likely benign | 780923865 | RCV000906844|RCV001276866; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896790 | 71896790 | | | 2:g.71896790C>T | - | | |
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser) | 8291 | DYSF | Uncertain significance | 886044266 | RCV000269161|RCV001246861|RCV001835767; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896796 | 71896796 | | | 2:g.71896796G>A | ClinGen:CA10606551 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala) | 8291 | DYSF | Uncertain significance | 1024524968 | RCV000498473|RCV001301589|RCV001276867; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896803 | 71896803 | | | 2:g.71896803G>C | ClinGen:CA347223777 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu) | 8291 | DYSF | Pathogenic | 1233961202 | RCV001542524|RCV002568950; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71896810 | 71896810 | | | 71896810 | - | | |
NM_001130987.2(DYSF):c.5719A>G (p.Asn1907Asp) | 8291 | DYSF | Uncertain significance | -1 | RCV003340859; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896811 | 71896811 | | | | - | | |
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser) | 8291 | DYSF | Uncertain significance | 543664648 | RCV000711568|RCV001830579; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896812 | 71896812 | | | NC_000002.11:g.71896812A>G | - | | |
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002289459; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896814 | 71896815 | | | 71896814 | - | | |
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys) | 8291 | DYSF | Uncertain significance | 886043028 | RCV000273558|RCV000692816|RCV001833345; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896818 | 71896818 | | | 2:g.71896818G>A | ClinGen:CA10605015 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) | 8291 | DYSF | Uncertain significance | 1336670524 | RCV001004987|RCV001860571; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71896819 | 71896819 | | | 2:g.71896819G>T | - | | |
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 762258343 | RCV000317613|RCV000754725|RCV002521880; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71896838 | 71896838 | | | 2:g.71896838T>C | ClinGen:CA1707485 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) | 8291 | DYSF | Pathogenic | 1573100371 | RCV000850237|RCV003338828; | N | MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71896849 | 71896849 | | | 2:g.71896849_71896849del | - | | |
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306860; | N | 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 | 2 | 71896850 | 71896850 | | | 71896850 | - | | |
NM_001130987.2(DYSF):c.5784+1G>A | 8291 | DYSF | Likely pathogenic | 909564120 | RCV000669228|RCV003459608; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71896877 | 71896877 | | | 2:g.71896877G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5785-41C>T | 8291 | DYSF | Benign | 2559081 | RCV000250122|RCV000839730|RCV001527270|RCV001660240|RCV001660241; | N | MedGen: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:268 | 2 | 71901286 | 71901286 | | | NC_000002.11:g.71901286C>T | ClinGen:CA1707499 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5785-8C>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201191038 | RCV000321544|RCV000348163|RCV000373833|RCV001081056|RCV001276868; | N | MedGen: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:268 | 2 | 71901319 | 71901319 | | | 2:g.71901319C>T | ClinGen:CA1707507 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.5785-7G>A | 8291 | DYSF | Pathogenic | 753861836 | RCV000331428|RCV000485381|RCV001058932|RCV001788187|RCV003469228; | N | MONDO: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:4 | 2 | 71901320 | 71901320 | | | NC_000002.11:g.71901320G>A | ClinGen:CA1707510 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5785-1G>C | 8291 | DYSF | Likely pathogenic | 751473506 | RCV000665467|RCV000823836|RCV003465443; | N | 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 | 2 | 71901326 | 71901326 | | | NC_000002.11:g.71901326G>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) | 8291 | DYSF | Pathogenic | 398123796 | RCV000305675|RCV000703813|RCV001274109|RCV003460753; | N | 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 | 2 | 71901354 | 71901355 | | | NC_000002.11:g.71901355AG[1] | ClinGen:CA222195 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) | 8291 | DYSF | Pathogenic | 121908959 | RCV000007062|RCV000007063|RCV000007061|RCV000080312|RCV000808564|RCV003114177; | N | 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|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:2070 | 2 | 71901372 | 71901372 | | | NC_000002.11:g.71901372C>T | ClinGen:CA118412,OMIM:603009.0012 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=) | 8291 | DYSF | Likely benign | 772521748 | RCV000246672|RCV000667569|RCV001442771; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71901383 | 71901383 | | | NC_000002.11:g.71901383C>T | ClinGen:CA1707521 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) | 8291 | DYSF | Pathogenic | 1573138336 | RCV000855442; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71901392 | 71901392 | | | 2:g.71901392G>A | - | | |
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 750860886 | RCV000262181|RCV000648008|RCV001276869; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71901416 | 71901416 | | | 2:g.71901416T>G | ClinGen:CA1707524 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5884+1G>A | 8291 | DYSF | Pathogenic/Likely pathogenic | 756689063 | RCV000733869|RCV000809651|RCV002290000|RCV003465667; | N | 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 | 2 | 71901427 | 71901427 | | | NC_000002.11:g.71901427G>A | - | | |
NM_001130987.2(DYSF):c.5884+6C>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144355449 | RCV000874414|RCV001564800|RCV001830918; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71901432 | 71901432 | | | 2:g.71901432C>T | - | | |
NM_001130987.2(DYSF):c.5885-16T>C | 8291 | DYSF | Benign | 1863812 | RCV000080313|RCV001527271|RCV001664347|RCV001664346|RCV002055167; | N | MedGen: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:2070 | 2 | 71906171 | 71906171 | | | 2:g.71906171T>C | ClinGen:CA147771 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.5885-1G>C | 8291 | DYSF | Likely pathogenic | 771257070 | RCV000670990|RCV002532106|RCV003465504; | N | 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 | 2 | 71906186 | 71906186 | | | 2:g.71906186G>C | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser) | 8291 | DYSF | Uncertain significance | 775578484 | RCV001277422; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906208 | 71906208 | | | 2:g.71906208A>G | - | | |
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 144116735 | RCV000648022|RCV001276870|RCV001311193; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71906210 | 71906210 | | | NC_000002.11:g.71906210C>T | ClinGen:CA1707548 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.5912T>A (p.Met1971Lys) | 8291 | DYSF | Uncertain significance | -1 | RCV002287924; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906214 | 71906214 | | | 71906214 | - | | |
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) | 8291 | DYSF | Likely benign | 375483537 | RCV000951034|RCV001827040; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906218 | 71906218 | | | 2:g.71906218C>G | - | | |
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) | 8291 | DYSF | Uncertain significance | 1573176526 | RCV001004960; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906223 | 71906223 | | | 2:g.71906223C>T | - | | |
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr) | 8291 | DYSF | Likely benign | 759198745 | RCV000802505|RCV001274110; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906234 | 71906234 | | | 2:g.71906234G>A | - | | |
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter) | 8291 | DYSF | Pathogenic | -1 | RCV002287920; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906245 | 71906245 | | | 71906245 | - | | |
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) | 8291 | DYSF | Pathogenic | 398123797 | RCV000179104|RCV000260297|RCV001217217|RCV003466988; | N | MONDO: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 | 2 | 71906254 | 71906257 | | | 2:g.71906254_71906257del | ClinGen:CA222196 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) | 8291 | DYSF | Benign/Likely benign | 17718530 | RCV000080315|RCV000282030|RCV000316074|RCV000576374|RCV001274111|RCV001142849|RCV001527272|RCV001664348; | N | MedGen: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:C455 | 2 | 71906278 | 71906278 | | | 2:g.71906278A>C | ClinGen:CA147772 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val) | 8291 | DYSF | Uncertain significance | 1189744662 | RCV001309603|RCV001830253; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906285 | 71906285 | | | 71906285 | - | | |
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro) | 8291 | DYSF | Likely pathogenic | -1 | RCV003234975; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906295 | 71906295 | | | | - | | |
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) | 8291 | DYSF | Pathogenic | 1064794020 | RCV000484686|RCV000537475|RCV000668514; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71906303 | 71906303 | | | 2:g.71906303C>T | ClinGen:CA16617750 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) | 8291 | DYSF | Pathogenic/Likely pathogenic | 1057521141 | RCV000424011|RCV000671182|RCV001861509|RCV003470383; | N | 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 | 2 | 71906327 | 71906327 | | | 2:g.71906327C>T | ClinGen:CA16604254 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val) | 8291 | DYSF | Uncertain significance | 201784424 | RCV000520965|RCV001829524|RCV002528266; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71906337 | 71906337 | | | 2:g.71906337C>T | ClinGen:CA1707565 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002306626; | N | 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 | 2 | 71906362 | 71906362 | | | 71906361 | - | | |
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) | 8291 | DYSF | Uncertain significance | 138936064 | RCV000080317|RCV000665259|RCV001244440|RCV002222382; | N | MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:CN169374 | 2 | 71906365 | 71906365 | | | 2:g.71906365G>A | ClinGen:CA222198 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002308216; | N | 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 | 2 | 71908139 | 71908139 | | | 71908138 | - | | |
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) | 8291 | DYSF | Uncertain significance | 773799968 | RCV000516630|RCV001276871; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71908153 | 71908153 | | | NC_000002.11:g.71908153A>G | ClinGen:CA1707593 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) | 8291 | DYSF | Pathogenic | 398123799 | RCV000080318|RCV000179122|RCV000547387|RCV002243709|RCV003466989; | N | MedGen: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:454 | 2 | 71908162 | 71908163 | | | NC_000002.11:g.71908163dup | ClinGen:CA222200 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter) | 8291 | DYSF | Likely pathogenic | 2095289978 | RCV001264261; | N | 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 | 2 | 71908176 | 71908176 | | | 2:g.71908176G>T | - | | |
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) | 8291 | DYSF | Uncertain significance | 149357145 | RCV000487679|RCV000793266|RCV001835751; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71908182 | 71908182 | | | NC_000002.11:g.71908182C>T | ClinGen:CA1707598 | CN517202 not provided; | |
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 115407852 | RCV000356385|RCV000487973|RCV000675073|RCV001085395|RCV001449928|RCV001138099|RCV003448906; | N | MedGen: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 Phenoty | 2 | 71908183 | 71908183 | | | 2:g.71908183G>A | ClinGen:CA1707599 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp) | 8291 | DYSF | Likely pathogenic | 1395588065 | RCV001064810|RCV001836103; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71908192 | 71908192 | | | 2:g.71908192G>A | - | | |
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp) | 8291 | DYSF | Uncertain significance | 200921075 | RCV000373696|RCV001229509|RCV001833390; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71908200 | 71908200 | | | 2:g.71908200C>T | ClinGen:CA1707601 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) | 8291 | DYSF | Uncertain significance | 886043489 | RCV000381542|RCV000648021|RCV001828235|RCV002494860; | N | MedGen: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:454 | 2 | 71908206 | 71908206 | | | 2:g.71908206G>A | ClinGen:CA10605579 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs) | 8291 | DYSF | Likely pathogenic | -1 | RCV002310294; | N | 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 | 2 | 71908206 | 71908207 | | | 71908205 | - | | |
NM_001130987.2(DYSF):c.6173+4A>C | 8291 | DYSF | Uncertain significance | 749127704 | RCV000540666|RCV001834799; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71908244 | 71908244 | | | 2:g.71908244A>C | ClinGen:CA1707609 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6174-9C>T | 8291 | DYSF | Conflicting interpretations of pathogenicity | 201070766 | RCV000265268|RCV000726633|RCV001084824|RCV001276872; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909651 | 71909651 | | | 2:g.71909651C>T | ClinGen:CA1707635 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6174-2A>G | 8291 | DYSF | Likely pathogenic | 1451269647 | RCV000666947; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909658 | 71909658 | | | 2:g.71909658A>G | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 143762717 | RCV000352290|RCV000401726|RCV000724811|RCV001080306|RCV001276873|RCV003243003; | N | 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|MeSH:D030342,MedGen:C0950123 | 2 | 71909660 | 71909660 | | | 2:g.71909660G>A | ClinGen:CA246386 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys) | 8291 | DYSF | Uncertain significance | 370286628 | RCV000293751|RCV000346364|RCV001138100|RCV001833465; | N | 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 | 2 | 71909661 | 71909661 | | | NC_000002.11:g.71909661C>T | ClinGen:CA1707637 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 147263499 | RCV000315999|RCV000540445|RCV001081387|RCV001449592|RCV001833308; | N | MedGen: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:268 | 2 | 71909666 | 71909666 | | | 2:g.71909666C>T | ClinGen:CA1707641 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala) | 8291 | DYSF | Uncertain significance | 778611782 | RCV001827566|RCV001663455; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:C3661900 | 2 | 71909694 | 71909694 | | | 71909694 | - | | |
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile) | 8291 | DYSF | Uncertain significance | 557683788 | RCV000555176|RCV001834800|RCV001755865; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MedGen:CN517202 | 2 | 71909708 | 71909708 | | | 2:g.71909708G>A | ClinGen:CA1707651 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) | 8291 | DYSF | Uncertain significance | 200990851 | RCV000724069|RCV001833085|RCV001852228; | N | MedGen:CN517202|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71909724 | 71909724 | | | 2:g.71909724C>T | ClinGen:CA246384 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) | 8291 | DYSF | Pathogenic/Likely pathogenic | 121908955 | RCV000007051|RCV000007052|RCV000080320|RCV000815134|RCV001813961; | N | MONDO: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: | 2 | 71909727 | 71909727 | | | NC_000002.11:g.71909727C>T | ClinGen:CA222203,UniProtKB:O75923#VAR_012311,OMIM:603009.0004 | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 185617318 | RCV000533199|RCV001755866|RCV001834801; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909733 | 71909733 | | | 2:g.71909733C>T | ClinGen:CA1707654 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter) | 8291 | DYSF | Likely pathogenic | 1553422709 | RCV000666916|RCV003465457; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130, Orphanet:45448 | 2 | 71909737 | 71909737 | | | 2:g.71909737G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) | 8291 | DYSF | Pathogenic | 1553422723 | RCV000670348; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909738 | 71909738 | | | 2:g.71909738G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) | 8291 | DYSF | Uncertain significance | 749619435 | RCV000295646|RCV000805748|RCV001828249; | N | MedGen:CN517202|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909740 | 71909741 | | | NC_000002.11:g.71909745ATCCTCTTCATC[3] | ClinGen:CA1707656 | CN169374 not specified; | |
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) | 8291 | DYSF | Uncertain significance | 749619435 | RCV000664872|RCV001058537|RCV001559835|RCV002493079; | N | MONDO: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; | 2 | 71909741 | 71909752 | | | 2:g.71909741_71909752del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=) | 8291 | DYSF | Likely benign | 1308247360 | RCV001499370|RCV001832652; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909741 | 71909741 | | | 71909741 | - | | |
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 150834671 | RCV000308010|RCV000407709|RCV000543402|RCV000725370|RCV001276874|RCV001449586; | N | 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:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:25 | 2 | 71909742 | 71909742 | | | 2:g.71909742A>G | ClinGen:CA222205 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe) | 8291 | DYSF | Uncertain significance | -1 | RCV002472092|RCV002571478; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71909748 | 71909748 | | | NC_000002.11:g.71909748C>T | - | | |
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) | 8291 | DYSF | Likely benign | 539234900 | RCV000873230|RCV001274112; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909750 | 71909750 | | | 2:g.71909750C>T | - | | |
NM_001130987.2(DYSF):c.6268ATC[1] (p.Ile2091del) | 8291 | DYSF | Uncertain significance | 1553422765 | RCV000671956; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909752 | 71909754 | | | 2:g.71909752_71909754del | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=) | 8291 | DYSF | Likely benign | 561011151 | RCV001276875|RCV001399767; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073 | 2 | 71909768 | 71909768 | | | 2:g.71909768C>T | - | | |
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) | 8291 | DYSF | Likely benign | 754852745 | RCV001418821|RCV001831465; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909780 | 71909780 | | | 71909780 | - | | |
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 549673939 | RCV000729231|RCV001087446|RCV001276876; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909798 | 71909798 | | | NC_000002.11:g.71909798C>T | - | | |
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) | 8291 | DYSF | Conflicting interpretations of pathogenicity | 746663568 | RCV000673203|RCV001035887|RCV003144473|RCV003465524; | N | MONDO: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 | 2 | 71909799 | 71909799 | | | 2:g.71909799G>A | - | C1850889 253601 Limb-girdle muscular dystrophy, type 2B; | |
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu) | 8291 | DYSF | Uncertain significance | 149732545 | RCV000329318|RCV000695824|RCV000672952; | N | MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909806 | 71909806 | | | 2:g.71909806C>T | ClinGen:CA1707669 | C2931687 Dysferlinopathy; | |
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=) | 8291 | DYSF | Likely benign | 139267208 | RCV000912278|RCV001276877; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71909807 | 71909807 | | | 2:g.71909807G>A | - | | |
NM_001130987.2(DYSF):c.6321+15C>T | 8291 | DYSF | Benign/Likely benign | 2559082 | RCV000080322|RCV000360522|RCV000407720|RCV001138102|RCV001664350|RCV001527273|RCV001664349; | N | MedGen: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:25 | 2 | 71909822 | 71909822 | | | 2:g.71909822C>T | ClinGen:CA147774 | CN239352 Limb-Girdle Muscular Dystrophy, Recessive; | |
NM_001130987.2(DYSF):c.6322-10C>G | 8291 | DYSF | Likely benign | 755660226 | RCV000920176|RCV001825852; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71913574 | 71913574 | | | 2:g.71913574C>G | - | | |
NM_001130987.2(DYSF):c.6322-7C>T | 8291 | DYSF | Likely benign | 749806665 | RCV000930220|RCV001276878; | N | MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268 | 2 | 71913577 | 71913577 | | | 2:g.71913577C>T | - | | |
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser) | 8291 | DYSF | Uncertain significance | 1442725303 | RCV001277423|RCV002542871; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MeSH:D030342,MedGen:C0950123 | 2 | 71913585 | 71913585 | | | 2:g.71913585A>G | - | | |
NM_001130987.2(DYSF):c.*107T>A | 8291 | DYSF | Conflicting interpretations of pathogenicity | 11903223 | RCV000351649|RCV000986771|RCV001138535|RCV001723875; | N | MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687, Orphanet:207073|MedGen:C3661900 | 2 | 71913729 | 71913729 | | | 2:g.71913729T>A | ClinGen:CA10606673 | CN169374 not specified; | |
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter) | 4000 | LMNA | Pathogenic | 1651341099 | RCV001200924|RCV003117843; | N | MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601, Orphanet:268|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746 | 1 | 156104230 | 156104230 | | | 1:g.156104230C>T | - | | |