Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_024301.5(FKRP):c.-272G>A | 79147 | FKRP | Pathogenic | rs1555735545 | RCV000626047; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47249328 | 47249328 | G | A | 19:g.47249328G>A | ClinGen:CA658799254 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.-34C>T | 79147 | FKRP | Benign | rs3201779 | RCV000082170|RCV001527241|RCV001527240|RCV001527274; | N | MedGen:CN169374|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258674 | 47258674 | C | T | 19:g.47258674C>T | ClinGen:CA285757 | CN169374 not specified; | |
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) | 79147 | FKRP | Uncertain significance | rs748272589 | RCV000822659|RCV001825665; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258711 | 47258711 | C | T | 19:g.47258711C>T | - | | |
NM_024301.5(FKRP):c.9C>T (p.Leu3=) | 79147 | FKRP | Likely benign | rs756295058 | RCV000886744|RCV001563826|RCV001563827|RCV001563825; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp | 19 | 47258716 | 47258716 | C | T | 19:g.47258716C>T | - | | |
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) | 79147 | FKRP | Uncertain significance | rs771333733 | RCV000382342|RCV000466132|RCV000726517|RCV001273315; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258718 | 47258718 | C | G | 19:g.47258718C>G | ClinGen:CA9532092 | CN169374 not specified; | |
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) | 79147 | FKRP | Uncertain significance | rs1060502108 | RCV000465267|RCV001828467; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258720 | 47258720 | C | T | NC_000019.9:g.47258720C>T | ClinGen:CA16616284 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) | 79147 | FKRP | Uncertain significance | rs760295001 | RCV001214515|RCV001836157; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258739 | 47258739 | C | T | 19:g.47258739C>T | - | | |
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) | 79147 | FKRP | Uncertain significance | rs768376273 | RCV000543616|RCV000786132|RCV001272533; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258744 | 47258744 | G | A | NC_000019.9:g.47258744G>A | ClinGen:CA9532098 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.54T>A (p.Leu18=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs565563742 | RCV000319756|RCV001085217|RCV001828260; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258761 | 47258761 | T | A | 19:g.47258761T>A | ClinGen:CA9532101 | CN169374 not specified; | |
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) | 79147 | FKRP | Uncertain significance | rs201951207 | RCV000821581|RCV001825661; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258775 | 47258775 | A | G | 19:g.47258775A>G | - | | |
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs752731569 | RCV000671994|RCV000732483; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47258784 | 47258784 | G | A | 19:g.47258784G>A | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) | 79147 | FKRP | Uncertain significance | rs1060502110 | RCV000467867|RCV000594457|RCV001833578; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258789 | 47258789 | C | G | NC_000019.9:g.47258789C>G | ClinGen:CA16616295 | CN169374 not specified; | |
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) | 79147 | FKRP | Uncertain significance | rs756205019 | RCV001241408|RCV001828976; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258790 | 47258790 | A | G | 19:g.47258790A>G | - | | |
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) | 79147 | FKRP | Uncertain significance | rs886043192 | RCV000282353|RCV001347668|RCV001828221; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258792 | 47258792 | C | T | 19:g.47258792C>T | ClinGen:CA10605222 | CN169374 not specified; | |
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) | 79147 | FKRP | Uncertain significance | rs1412050261 | RCV001241301|RCV001828973; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258813 | 47258813 | G | T | 19:g.47258813G>T | - | | |
NM_024301.5(FKRP):c.119G>A (p.Arg40His) | 79147 | FKRP | Uncertain significance | -1 | RCV001563922|RCV001563920|RCV001563921; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428 | 19 | 47258826 | 47258826 | G | A | 47258826 | - | | |
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) | 79147 | FKRP | Uncertain significance | rs201497063 | RCV000552107|RCV001829569; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258829 | 47258829 | G | T | NC_000019.9:g.47258829G>T | ClinGen:CA9532114 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) | 79147 | FKRP | Uncertain significance | rs1555738085 | RCV000577932|RCV000578007|RCV000578092|RCV000578009; | N | MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,H | 19 | 47258835 | 47258835 | C | G | 19:g.47258835C>G | ClinGen:CA406494717 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.135C>T (p.Ala45=) | 79147 | FKRP | Benign | rs2287717 | RCV000082171|RCV000576338|RCV000578086|RCV001272534|RCV001527275|RCV001521584|RCV001527276; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515||MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688, | 19 | 47258842 | 47258842 | C | T | 19:g.47258842C>T | ClinGen:CA285758 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) | 79147 | FKRP | Uncertain significance | rs769377092 | RCV000359216|RCV000475956|RCV001275308; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258858 | 47258858 | G | A | 19:g.47258858G>A | ClinGen:CA9532117 | CN169374 not specified; | |
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) | 79147 | FKRP | Pathogenic | rs1290836394 | RCV000559625|RCV001834762; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258862 | 47258863 | T | TGGTGC | NC_000019.9:g.47258865_47258869dup | ClinGen:CA658658823 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) | 79147 | FKRP | Likely pathogenic | rs28937905 | RCV000004449; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258867 | 47258867 | C | T | 19:g.47258867C>T | ClinGen:CA116714,UniProtKB:Q9H9S5#VAR_019272,OMIM:606596.0011 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) | 79147 | FKRP | Pathogenic | rs886042506 | RCV000364855|RCV000665348|RCV000812275; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47258867 | 47258868 | C | CGGGA | NC_000019.9:g.47258869_47258872dup | ClinGen:CA10604327 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) | 79147 | FKRP | Likely pathogenic | rs1555738149 | RCV000669278; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258874 | 47258875 | T | TCGAGGCATTTGACAACG | 19:g.47258874_47258875insCGAGGCATTTGACAACG | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) | 79147 | FKRP | Uncertain significance | rs773024545 | RCV000308811|RCV000634051|RCV001272535; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258876 | 47258876 | G | A | 19:g.47258876G>A | ClinGen:CA9532119 | CN169374 not specified; | |
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) | 79147 | FKRP | Uncertain significance | rs751506122 | RCV001056388|RCV001279352; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258879 | 47258879 | G | A | 19:g.47258879G>A | - | | |
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) | 79147 | FKRP | Uncertain significance | rs1311501368 | RCV001035053|RCV001827210; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258885 | 47258885 | G | T | 19:g.47258885G>T | - | | |
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) | 79147 | FKRP | Uncertain significance | rs1448177835 | RCV000697777|RCV001830533; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258892 | 47258892 | C | T | NC_000019.9:g.47258892C>T | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.192C>T (p.Pro64=) | 79147 | FKRP | Benign | rs111754012 | RCV000117037|RCV000227021|RCV000576519|RCV001272536|RCV001811960; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, | 19 | 47258899 | 47258899 | C | T | 19:g.47258899C>T | ClinGen:CA288847 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.206_208del (p.Ser69del) | 79147 | FKRP | Likely pathogenic | rs2054893955 | RCV001209480|RCV001836149; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258911 | 47258913 | ACTC | A | 19:g.47258911_47258913del | - | | |
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) | 79147 | FKRP | Uncertain significance | rs990847012 | RCV001295759|RCV001830129; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258912 | 47258912 | T | C | 47258912 | - | | |
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) | 79147 | FKRP | Likely pathogenic | rs1555738201 | RCV000671226; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258921 | 47258921 | C | T | 19:g.47258921C>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) | 79147 | FKRP | Likely pathogenic | rs1555738204 | RCV000666517; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258928 | 47258929 | A | ACCCAG | 19:g.47258928_47258929insCCCAG | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) | 79147 | FKRP | Likely pathogenic | -1 | RCV001379447|RCV001826153; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258936 | 47258936 | C | T | 47258936 | - | | |
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) | 79147 | FKRP | Uncertain significance | rs747511445 | RCV000468926|RCV001770340|RCV001828468; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258939 | 47258939 | C | T | NC_000019.9:g.47258939C>T | ClinGen:CA9532130 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.235G>A (p.Val79Met) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs104894683 | RCV000004450|RCV000236146|RCV000513718|RCV001083979; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47258942 | 47258942 | G | A | NC_000019.9:g.47258942G>A | OMIM:606596.0012,ClinGen:CA116716,UniProtKB:Q9H9S5#VAR_065055 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) | 79147 | FKRP | Uncertain significance | rs2054894857 | RCV001352553|RCV001831183; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258942 | 47258944 | CGTG | C | 47258941 | - | | |
NM_024301.5(FKRP):c.249C>T (p.Ala83=) | 79147 | FKRP | Benign | rs149030303 | RCV000082174|RCV000233707|RCV001272537|RCV001725965; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47258956 | 47258956 | C | T | 19:g.47258956C>T | ClinGen:CA149246 | CN169374 not specified; | |
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs770711331 | RCV000665956|RCV000700227|RCV001784236; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202 | 19 | 47258973 | 47258973 | C | T | 19:g.47258973C>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) | 79147 | FKRP | Likely pathogenic | rs1555738245 | RCV000667008; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258974 | 47258974 | G | AT | 19:g.47258974_47258975insT | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) | 79147 | FKRP | Uncertain significance | rs1220815256 | RCV000669620; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47258981 | 47258982 | G | GCCCTGC | 19:g.47258981_47258982insCCCTGC | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.282C>T (p.Pro94=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | -1 | RCV001563828|RCV001563918|RCV001563919|RCV002072148; | N | MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp | 19 | 47258989 | 47258989 | C | T | 47258989 | - | | |
NM_024301.5(FKRP):c.295G>A (p.Val99Met) | 79147 | FKRP | Uncertain significance | rs776733780 | RCV000531133|RCV001834763; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259002 | 47259002 | G | A | NC_000019.9:g.47259002G>A | ClinGen:CA9532139 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) | 79147 | FKRP | Uncertain significance | rs1244445645 | RCV000687283|RCV001272538; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259005 | 47259005 | C | T | 19:g.47259005C>T | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.299G>A (p.Arg100His) | 79147 | FKRP | Uncertain significance | rs1174581828 | RCV001241329|RCV001836210; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259006 | 47259006 | G | A | 19:g.47259006G>A | - | | |
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) | 79147 | FKRP | Uncertain significance | rs1473327480 | RCV001347810|RCV001831135; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259012 | 47259012 | C | A | 47259012 | - | | |
NM_024301.5(FKRP):c.315G>T (p.Gln105His) | 79147 | FKRP | Uncertain significance | rs765444642 | RCV001231603|RCV001828848; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259022 | 47259022 | G | T | 19:g.47259022G>T | - | | |
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) | 79147 | FKRP | Uncertain significance | rs1164727838 | RCV000809005|RCV001772089|RCV001825610; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259023 | 47259023 | C | T | 19:g.47259023C>T | - | | |
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) | 79147 | FKRP | Uncertain significance | rs750679682 | RCV000369694|RCV001835769|RCV001327233; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259026 | 47259026 | G | T | 19:g.47259026G>T | ClinGen:CA9532142 | CN169374 not specified; | |
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) | 79147 | FKRP | Uncertain significance | rs936866997 | RCV001063677|RCV001336095|RCV001275309; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259030 | 47259030 | T | C | 19:g.47259030T>C | - | | |
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) | 79147 | FKRP | Uncertain significance | rs758759348 | RCV000459145|RCV000765451|RCV000991999|RCV001272539; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp | 19 | 47259035 | 47259035 | C | T | 19:g.47259035C>T | ClinGen:CA9532143 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs143793528 | RCV000082175|RCV000227473|RCV000577971|RCV000711662|RCV001563823|RCV001563824; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,M | 19 | 47259048 | 47259048 | C | G | 19:g.47259048C>G | ClinGen:CA149248,UniProtKB:Q9H9S5#VAR_018280 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) | 79147 | FKRP | Likely pathogenic | rs1555738311 | RCV000673440; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259051 | 47259055 | TCGCGC | T | 19:g.47259051_47259055del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) | 79147 | FKRP | Uncertain significance | rs1060502106 | RCV000456630|RCV001275310; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259086 | 47259086 | G | A | NC_000019.9:g.47259086G>A | ClinGen:CA16616078 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer) | 79147 | FKRP | Pathogenic | rs587777823 | RCV000004443; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259092 | 47259093 | G | GTACC | NC_000019.9:g.47259094_47259097dup | ClinGen:CA116703,OMIM:606596.0005 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) | 79147 | FKRP | Uncertain significance | rs900304726 | RCV001243589|RCV001835175; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259101 | 47259101 | G | C | 19:g.47259101G>C | - | | |
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) | 79147 | FKRP | Uncertain significance | rs755588907 | RCV001279353; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259102 | 47259102 | G | C | 19:g.47259102G>C | - | | |
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) | 79147 | FKRP | Uncertain significance | rs104894690 | RCV000004452; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259107 | 47259107 | C | T | 19:g.47259107C>T | ClinGen:CA116720,UniProtKB:Q9H9S5#VAR_065056,OMIM:606596.0014 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) | 79147 | FKRP | Uncertain significance | rs398124392 | RCV000082176|RCV000673389; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259111 | 47259111 | C | A | 19:g.47259111C>A | ClinGen:CA223739 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) | 79147 | FKRP | Benign/Likely benign | rs148206382 | RCV000153241|RCV000512944|RCV000672414|RCV000852754|RCV001081194; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569; EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human | 19 | 47259134 | 47259134 | C | A | 19:g.47259134C>A | ClinGen:CA180039,UniProtKB:Q9H9S5#VAR_018282 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) | 79147 | FKRP | Uncertain significance | rs1599935206 | RCV000805524|RCV001830747; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259149 | 47259149 | C | A | 19:g.47259149C>A | - | | |
NM_024301.5(FKRP):c.446G>A (p.Arg149His) | 79147 | FKRP | Uncertain significance | rs1449983261 | RCV000536541|RCV001834764; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259153 | 47259153 | G | A | 19:g.47259153G>A | ClinGen:CA406495346 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.464del (p.Leu155fs) | 79147 | FKRP | Likely pathogenic | rs1555738456 | RCV000671874; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259171 | 47259171 | CT | C | 19:g.47259171_47259171del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.483C>T (p.Ala161=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs797045576 | RCV000193165|RCV000674471|RCV001496128; | N | MedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259190 | 47259190 | C | T | NC_000019.9:g.47259190C>T | ClinGen:CA206471 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) | 79147 | FKRP | Uncertain significance | rs1008630400 | RCV001064007|RCV001827410; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259198 | 47259198 | A | G | 19:g.47259198A>G | - | | |
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) | 79147 | FKRP | Uncertain significance | rs1555738483 | RCV000673672; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259209 | 47259209 | T | C | 19:g.47259209T>C | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) | 79147 | FKRP | Likely pathogenic | -1 | RCV001815627; | N | MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899 | 19 | 47259210 | 47259210 | G | A | 47259210 | - | | |
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) | 79147 | FKRP | Uncertain significance | rs1322879846 | RCV000711663|RCV001272540|RCV000809832; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259224 | 47259224 | G | A | NC_000019.9:g.47259224G>A | - | | |
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) | 79147 | FKRP | Uncertain significance | rs1318966349 | RCV000734707|RCV001239053|RCV001825484; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259231 | 47259231 | T | C | NC_000019.9:g.47259231T>C | - | | |
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs1555738502 | RCV000672053|RCV001868261; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259233 | 47259233 | C | T | 19:g.47259233C>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) | 79147 | FKRP | Uncertain significance | rs755316345 | RCV001297833|RCV001830145; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259234 | 47259234 | G | A | 47259234 | - | | |
NM_024301.5(FKRP):c.531G>A (p.Glu177=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs768007208 | RCV000725725|RCV001081894|RCV001828220; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259238 | 47259238 | G | A | 19:g.47259238G>A | ClinGen:CA9532159 | CN169374 not specified; | |
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) | 79147 | FKRP | Uncertain significance | rs777245868 | RCV000634057|RCV001275313|RCV001591411; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259248 | 47259248 | C | A | NC_000019.9:g.47259248C>A | ClinGen:CA9532162 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs753390261 | RCV000324567|RCV000673996|RCV001859617; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259251 | 47259251 | T | C | 19:g.47259251T>C | ClinGen:CA9532163 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs543163491 | RCV000336106|RCV000763055|RCV000810074|RCV000984175; | N | MedGen:CN517202|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,O | 19 | 47259252 | 47259252 | A | G | NC_000019.9:g.47259252A>G | ClinGen:CA9532164,UniProtKB:Q9H9S5#VAR_065058 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) | 79147 | FKRP | Uncertain significance | rs543163491 | RCV001279354; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259252 | 47259252 | A | C | 19:g.47259252A>C | - | | |
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) | 79147 | FKRP | Uncertain significance | rs1489408026 | RCV000796018|RCV001272541; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259258 | 47259258 | C | T | 19:g.47259258C>T | - | | |
NM_024301.5(FKRP):c.558dup (p.Ala187fs) | 79147 | FKRP | Likely pathogenic | rs1191737604 | RCV000668168; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259260 | 47259261 | G | GC | 19:g.47259260_47259261insC | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) | 79147 | FKRP | Uncertain significance | rs1032563159 | RCV000634050|RCV001829782; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259261 | 47259261 | C | T | 19:g.47259261C>T | ClinGen:CA309099350 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup) | 79147 | FKRP | Uncertain significance | rs1555738552 | RCV000674605; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259263 | 47259264 | C | CCCG | 19:g.47259263_47259264insCCG | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) | 79147 | FKRP | Uncertain significance | rs745619101 | RCV000266806|RCV001065813|RCV001272542; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259264 | 47259264 | C | T | 19:g.47259264C>T | ClinGen:CA10605068 | CN169374 not specified; | |
NM_024301.5(FKRP):c.561C>G (p.Ala187=) | 79147 | FKRP | Likely benign | rs771770302 | RCV000940625|RCV001395840|RCV001832147; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259268 | 47259268 | C | G | 19:g.47259268C>G | - | | |
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) | 79147 | FKRP | Uncertain significance | rs746905689 | RCV000634060|RCV000711664|RCV001272543; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259269 | 47259269 | G | A | 19:g.47259269G>A | ClinGen:CA9532169 | CN169374 not specified; | |
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs) | 79147 | FKRP | Likely pathogenic | rs1555738568 | RCV000668109; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259269 | 47259270 | G | GCGCCC | 19:g.47259269_47259270insCGCCC | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) | 79147 | FKRP | Uncertain significance | rs768762059 | RCV000489382|RCV001242700|RCV001834588; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259270 | 47259270 | C | T | NC_000019.9:g.47259270C>T | ClinGen:CA9532170 | CN169374 not specified; | |
NM_024301.5(FKRP):c.567C>T (p.Pro189=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs201454433 | RCV000254084|RCV000725158|RCV001085023|RCV001828147; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259274 | 47259274 | C | T | 19:g.47259274C>T | ClinGen:CA9532171 | CN169374 not specified; | |
NM_024301.5(FKRP):c.569G>A (p.Arg190His) | 79147 | FKRP | Uncertain significance | rs917645867 | RCV001202297|RCV001751372|RCV001828625; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259276 | 47259276 | G | A | 19:g.47259276G>A | - | | |
NM_024301.5(FKRP):c.582G>A (p.Leu194=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs771223960 | RCV000228492|RCV000669233; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259289 | 47259289 | G | A | 19:g.47259289G>A | ClinGen:CA9532173 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.585C>T (p.Asp195=) | 79147 | FKRP | Benign | rs75079578 | RCV000082179|RCV000576800|RCV001081711|RCV001727566; | N | MedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0000171,MedGen:C0265221,O | 19 | 47259292 | 47259292 | C | T | 19:g.47259292C>T | ClinGen:CA149250 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) | 79147 | FKRP | Uncertain significance | rs759875552 | RCV000178354|RCV000548844|RCV000674993; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259293 | 47259293 | G | A | 19:g.47259293G>A | ClinGen:CA245426 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs759875552 | RCV000314155|RCV000673934; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259293 | 47259293 | G | C | 19:g.47259293G>C | ClinGen:CA9532174 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.606G>A (p.Leu202=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs140084192 | RCV000082180|RCV000723553|RCV001088477|RCV001831885; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259313 | 47259313 | G | A | 19:g.47259313G>A | ClinGen:CA223743 | CN169374 not specified; | |
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) | 79147 | FKRP | Uncertain significance | rs753297636 | RCV000283493|RCV000820298|RCV001275314; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259320 | 47259320 | C | G | NC_000019.9:g.47259320C>G | ClinGen:CA9532178 | CN169374 not specified; | |
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) | 79147 | FKRP | Uncertain significance | rs778472624 | RCV000519238|RCV000697869|RCV001273517; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259335 | 47259335 | C | G | 19:g.47259335C>G | ClinGen:CA9532180 | CN169374 not specified; | |
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) | 79147 | FKRP | Uncertain significance | rs750041378 | RCV000383820|RCV000460118|RCV001833398; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259339 | 47259339 | C | T | 19:g.47259339C>T | ClinGen:CA9532181 | CN169374 not specified; | |
NM_024301.5(FKRP):c.633G>A (p.Ser211=) | 79147 | FKRP | Uncertain significance | rs921883036 | RCV001226232|RCV001828806; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259340 | 47259340 | G | A | 19:g.47259340G>A | - | | |
NM_024301.5(FKRP):c.656del (p.Gly219fs) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs1555738651 | RCV000665862|RCV001855447; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259361 | 47259361 | TG | T | 19:g.47259361_47259361del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) | 79147 | FKRP | Uncertain significance | rs878855080 | RCV000234060|RCV000670321; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259362 | 47259362 | G | A | NC_000019.9:g.47259362G>A | ClinGen:CA10583809 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.675del (p.Thr226fs) | 79147 | FKRP | Pathogenic | rs886043706 | RCV000346543|RCV000673066|RCV001218316; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259382 | 47259382 | AG | A | 19:g.47259382_47259382del | ClinGen:CA10605846 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) | 79147 | FKRP | Uncertain significance | rs772380755 | RCV001242001|RCV001828989; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259384 | 47259384 | C | A | 19:g.47259384C>A | - | | |
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) | 79147 | FKRP | Likely pathogenic | rs1555738675 | RCV000674998; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259388 | 47259422 | CCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGA | C | 19:g.47259388_47259422del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.686del (p.Arg229fs) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs1555738686 | RCV000669713|RCV001009211|RCV001855525; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259393 | 47259393 | CG | C | 19:g.47259393_47259393del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.696G>T (p.Ala232=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs398124394 | RCV000082181|RCV000665517|RCV001494780; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259403 | 47259403 | G | T | 19:g.47259403G>T | ClinGen:CA223745 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) | 79147 | FKRP | Uncertain significance | rs754347622 | RCV000692322|RCV001830508; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259413 | 47259413 | C | G | NC_000019.9:g.47259413C>G | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.708G>A (p.Leu236=) | 79147 | FKRP | Likely benign | rs886038683 | RCV000250209|RCV000668416|RCV001477386; | N | MedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259415 | 47259415 | G | A | 19:g.47259415G>A | ClinGen:CA10587341 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.725C>T (p.Ala242Val) | 79147 | FKRP | Uncertain significance | rs1298321836 | RCV001247009|RCV001773562|RCV001835287; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259432 | 47259432 | C | T | 19:g.47259432C>T | - | | |
NM_024301.5(FKRP):c.731G>A (p.Arg244His) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs764641619 | RCV000331999|RCV000457561|RCV000664793|RCV000725201; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259438 | 47259438 | G | A | 19:g.47259438G>A | ClinGen:CA9532194 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs528000488 | RCV000711665|RCV001079526|RCV001275315; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259447 | 47259447 | C | A | 19:g.47259447C>A | ClinGen:CA234005 | CN169374 not specified; | |
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) | 79147 | FKRP | Uncertain significance | rs757955092 | RCV001208376|RCV001833831; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259452 | 47259452 | G | A | 19:g.47259452G>A | - | | |
NM_024301.5(FKRP):c.750G>A (p.Thr250=) | 79147 | FKRP | Likely benign | rs1390038437 | RCV000698746|RCV001275316; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259457 | 47259457 | G | A | 19:g.47259457G>A | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) | 79147 | FKRP | Uncertain significance | rs959679901 | RCV000549762|RCV001834765; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259464 | 47259464 | G | T | NC_000019.9:g.47259464G>T | ClinGen:CA309099464 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter) | 79147 | FKRP | Pathogenic | rs104894689 | RCV000004451; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259471 | 47259471 | G | A | 19:g.47259471G>A | ClinGen:CA116718,OMIM:606596.0013 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.777C>T (p.Arg259=) | 79147 | FKRP | Uncertain significance | rs766086486 | RCV001240877|RCV001828961; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259484 | 47259484 | C | T | 19:g.47259484C>T | - | | |
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs1555738753 | RCV000669672|RCV001855524; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259485 | 47259485 | G | T | 19:g.47259485G>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp) | 79147 | FKRP | Uncertain significance | rs1414659732 | RCV001203338|RCV001828632; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259487 | 47259487 | G | C | 19:g.47259487G>C | - | | |
NM_024301.5(FKRP):c.796del (p.Ala266fs) | 79147 | FKRP | Likely pathogenic | rs1555738764 | RCV000672793; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259501 | 47259501 | CG | C | 19:g.47259501_47259501del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) | 79147 | FKRP | Uncertain significance | rs1320991574 | RCV001053933|RCV001827338; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259501 | 47259501 | G | T | 19:g.47259501G>T | - | | |
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) | 79147 | FKRP | Uncertain significance | rs1276654268 | RCV001345994|RCV001825920; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259504 | 47259504 | C | T | 47259504 | - | | |
NM_024301.5(FKRP):c.809G>A (p.Arg270His) | 79147 | FKRP | Uncertain significance | rs1025118379 | RCV001308238|RCV001830242; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259516 | 47259516 | G | A | 47259516 | - | | |
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs77138370 | RCV000117039|RCV000711666|RCV001086481|RCV001836732; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150 | 19 | 47259529 | 47259529 | C | G | 19:g.47259529C>G | ClinGen:CA152821 | CN169374 not specified; | |
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs1247934219 | RCV000596371|RCV000674695|RCV000810990; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259530 | 47259530 | C | T | NC_000019.9:g.47259530C>T | ClinGen:CA406496081 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs28937900 | RCV000004442|RCV000082182|RCV000231711|RCV000612115|RCV000660622|RCV000503787|RCV000515332|RCV000626960|RCV001197775|RCV001329320|RCV001526640; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|Human Phenotype Ontology:HP:0006785,Human Phenotype Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orp | 19 | 47259533 | 47259533 | C | A | NC_000019.9:g.47259533C>A | ClinGen:CA116701,UniProtKB:Q9H9S5#VAR_018285,OMIM:606596.0004,ClinVar:224674 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.849G>A (p.Arg283=) | 79147 | FKRP | Likely benign | rs2054920441 | RCV001279355|RCV002069458; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259556 | 47259556 | G | A | 19:g.47259556G>A | - | | |
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) | 79147 | FKRP | Uncertain significance | rs1435780847 | RCV000702546|RCV001825385; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259558 | 47259558 | T | C | NC_000019.9:g.47259558T>C | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) | 79147 | FKRP | Uncertain significance | -1 | RCV001563923|RCV001563925|RCV001563924|RCV001882663; | N | MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp | 19 | 47259561 | 47259561 | A | C | 47259561 | - | | |
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) | 79147 | FKRP | Likely pathogenic | rs1555738823 | RCV000669569; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259566 | 47259576 | GTTCGGCTGCAA | G | 19:g.47259566_47259576del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.885C>T (p.Arg295=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs769005880 | RCV000394110|RCV001083609|RCV001275317|RCV001729511; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN169374 | 19 | 47259592 | 47259592 | C | T | 19:g.47259592C>T | ClinGen:CA9532206 | CN169374 not specified; | |
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) | 79147 | FKRP | Uncertain significance | rs921829148 | RCV001325181|RCV001830367; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259600 | 47259600 | G | C | 47259600 | - | | |
NM_024301.5(FKRP):c.898G>A (p.Val300Met) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs563033008 | RCV000226616|RCV000398763|RCV000672226|RCV000765453|RCV000726141|RCV001731540; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,O | 19 | 47259605 | 47259605 | G | A | NC_000019.9:g.47259605G>A | UniProtKB:Q9H9S5#VAR_065061,ClinGen:CA9532207 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs104894691 | RCV000004453|RCV000732974|RCV000814162|RCV001813735; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899 | 19 | 47259606 | 47259606 | T | C | NC_000019.9:g.47259606T>C | ClinGen:CA116722,UniProtKB:Q9H9S5#VAR_065060,OMIM:606596.0015 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs104894692 | RCV000004455|RCV000004454|RCV000494504|RCV000805125|RCV000844942; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899| | 19 | 47259626 | 47259626 | T | A | NC_000019.9:g.47259626T>A | ClinGen:CA116724,UniProtKB:Q9H9S5#VAR_022850,OMIM:606596.0016 | C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; | |
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs765885747 | RCV000665088|RCV000760366|RCV001055645; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259635 | 47259635 | G | T | 19:g.47259635G>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter) | 79147 | FKRP | Likely pathogenic | rs1483781400 | RCV000665682; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259638 | 47259638 | G | T | 19:g.47259638G>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) | 79147 | FKRP | Pathogenic | rs398124395 | RCV000082183|RCV000178344|RCV001050280; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259648 | 47259648 | C | T | NC_000019.9:g.47259648C>T | ClinGen:CA202828 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.948del (p.Cys317fs) | 79147 | FKRP | Pathogenic | rs748798133 | RCV000822337|RCV001580551|RCV001830816|RCV001784454; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259650 | 47259650 | GC | G | 19:g.47259650_47259650del | - | | |
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) | 79147 | FKRP | Uncertain significance | rs28937901 | RCV000004445|RCV000675047; | N | MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259653 | 47259653 | C | A | 19:g.47259653C>A | ClinGen:CA116706,OMIM:606596.0007 | CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5; | |
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) | 79147 | FKRP | Uncertain significance | rs28937901 | RCV000178358|RCV000670956; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259653 | 47259653 | C | T | 19:g.47259653C>T | ClinGen:CA245434,UniProtKB:Q9H9S5#VAR_022851 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) | 79147 | FKRP | Uncertain significance | rs28937901 | RCV001327126|RCV001831029; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259653 | 47259653 | C | G | 47259653 | - | | |
NM_024301.5(FKRP):c.963_964del (p.Leu322fs) | 79147 | FKRP | Likely pathogenic | rs1555738883 | RCV000674174; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259664 | 47259665 | TGC | T | 19:g.47259664_47259665del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.960_970del (p.Ala321fs) | 79147 | FKRP | Pathogenic | rs1599937963 | RCV000855420; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259664 | 47259674 | TGCGCGCGCTGC | T | 19:g.47259664_47259674del | - | | |
NM_024301.5(FKRP):c.968G>A (p.Arg323His) | 79147 | FKRP | Uncertain significance | rs1349031936 | RCV000634072|RCV001171504|RCV000662004|RCV000662005; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha | 19 | 47259675 | 47259675 | G | A | 19:g.47259675G>A | ClinGen:CA406496378 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs886044183 | RCV000282481|RCV000726333|RCV000461986; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259677 | 47259677 | G | T | 19:g.47259677G>T | ClinGen:CA10606452 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) | 79147 | FKRP | Uncertain significance | rs886044183 | RCV001342674|RCV001825888; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259677 | 47259677 | G | C | 47259677 | - | | |
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) | 79147 | FKRP | Uncertain significance | rs1365712686 | RCV000823403|RCV001830821; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259679 | 47259679 | G | C | 19:g.47259679G>C | - | | |
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) | 79147 | FKRP | Uncertain significance | rs1201873802 | RCV000799009|RCV001273519|RCV001772057; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259683 | 47259683 | G | A | 19:g.47259683G>A | - | | |
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) | 79147 | FKRP | Uncertain significance | rs867877678 | RCV000489405|RCV001835825; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259686 | 47259686 | C | G | 19:g.47259686C>G | ClinGen:CA406496400 | CN169374 not specified; | |
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) | 79147 | FKRP | Uncertain significance | rs886043458 | RCV000398483|RCV000634066|RCV001828233; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259689 | 47259691 | CTAT | C | 19:g.47259689_47259691del | ClinGen:CA10605545 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) | 79147 | FKRP | Uncertain significance | rs1599938256 | RCV000991997|RCV001858744|RCV001836057; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259706 | 47259707 | G | GGAGGCTGCGGGCGTGCGC | 19:g.47259706_47259707insGAGGCTGCGGGCGTGCGC | - | | |
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) | 79147 | FKRP | Uncertain significance | rs776947530 | RCV000306773|RCV000797226|RCV001833326; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259710 | 47259710 | G | A | NC_000019.9:g.47259710G>A | ClinGen:CA9532222 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs1173430388 | RCV000669472|RCV001868232; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259719 | 47259719 | G | T | 19:g.47259719G>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) | 79147 | FKRP | Uncertain significance | rs1450841129 | RCV000674783|RCV000735132; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259723 | 47259723 | G | A | 19:g.47259723G>A | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) | 79147 | FKRP | Uncertain significance | rs1322997651 | RCV000538732|RCV000765455|RCV001273520; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp | 19 | 47259726 | 47259726 | A | T | 19:g.47259726A>T | ClinGen:CA406496482 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) | 79147 | FKRP | Likely pathogenic | rs587780334 | RCV000668106|RCV001554930; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259734 | 47259734 | G | T | 19:g.47259734G>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) | 79147 | FKRP | Likely pathogenic | rs753811189 | RCV000576484; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259743 | 47259743 | T | C | 19:g.47259743T>C | ClinGen:CA406496519 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) | 79147 | FKRP | Uncertain significance | rs982005875 | RCV001339166|RCV001830410; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259758 | 47259758 | G | A | 47259758 | - | | |
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) | 79147 | FKRP | Likely benign | rs886038682 | RCV000248317|RCV000668941; | N | MedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259763 | 47259763 | C | T | 19:g.47259763C>T | ClinGen:CA10587342 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) | 79147 | FKRP | Uncertain significance | rs770195088 | RCV000668104; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259785 | 47259785 | G | C | 19:g.47259785G>C | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) | 79147 | FKRP | Uncertain significance | rs1184684815 | RCV001340070|RCV001830417; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259824 | 47259824 | G | A | 47259824 | - | | |
NM_024301.5(FKRP):c.1119del (p.Asn374fs) | 79147 | FKRP | Likely pathogenic | rs1555739041 | RCV000674304; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259826 | 47259826 | GC | G | 19:g.47259826_47259826del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) | 79147 | FKRP | Likely benign | rs370575962 | RCV000863518|RCV001275318|RCV001585810; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47259826 | 47259826 | C | A | 19:g.47259826C>A | - | | |
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) | 79147 | FKRP | Uncertain significance | -1 | RCV001527407; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259837 | 47259837 | A | G | 47259837 | - | | |
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs754403441 | RCV000672422|RCV000688076; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259842 | 47259843 | C | CG | 19:g.47259842_47259843insG | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) | 79147 | FKRP | Uncertain significance | rs140217866 | RCV000734659|RCV001240350|RCV001830641; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259843 | 47259843 | G | A | NC_000019.9:g.47259843G>A | - | | |
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) | 79147 | FKRP | Uncertain significance | rs140217866 | RCV001056582|RCV001832510; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259843 | 47259843 | G | C | 19:g.47259843G>C | - | | |
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) | 79147 | FKRP | Uncertain significance | rs751586523 | RCV000824079|RCV001830825; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259846 | 47259846 | G | A | 19:g.47259846G>A | - | | |
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) | 79147 | FKRP | Pathogenic | rs748087383 | RCV000674951|RCV001861850; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259874 | 47259875 | AGC | A | 19:g.47259874_47259875del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) | 79147 | FKRP | Likely benign | rs771708277 | RCV000869518|RCV001275319|RCV001489188; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259874 | 47259874 | G | A | 19:g.47259874G>A | - | | |
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs140679502 | RCV000192864|RCV000456138|RCV001093246|RCV001275320; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259884 | 47259884 | G | A | NC_000019.9:g.47259884G>A | ClinGen:CA205982 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) | 79147 | FKRP | Uncertain significance | rs767570224 | RCV000501908|RCV001048190|RCV001755740|RCV001829425; | N | MedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259897 | 47259897 | C | T | NC_000019.9:g.47259897C>T | ClinGen:CA9532272 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) | 79147 | FKRP | Uncertain significance | rs1471167981 | RCV001348079|RCV001831138; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259899 | 47259899 | G | A | 47259899 | - | | |
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) | 79147 | FKRP | Uncertain significance | rs1230638385 | RCV001241623|RCV001288179|RCV001828983; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259902 | 47259902 | G | A | 19:g.47259902G>A | - | | |
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) | 79147 | FKRP | Uncertain significance | rs1555739117 | RCV000665981|RCV001855450; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47259908 | 47259908 | G | A | 19:g.47259908G>A | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1208del (p.Phe403fs) | 79147 | FKRP | Uncertain significance | rs1555739119 | RCV000667203; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259911 | 47259911 | CT | C | 19:g.47259911_47259911del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1236C>T (p.His412=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs201076863 | RCV000732907|RCV001086434|RCV001830628; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259943 | 47259943 | C | T | NC_000019.9:g.47259943C>T | - | | |
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) | 79147 | FKRP | Uncertain significance | rs769568971 | RCV000634052|RCV000726824|RCV001275321|RCV001197776; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428 | 19 | 47259977 | 47259977 | A | C | 19:g.47259977A>C | ClinGen:CA9532287 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) | 79147 | FKRP | Uncertain significance | rs376989573 | RCV001233600|RCV001828860; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259978 | 47259978 | A | G | 19:g.47259978A>G | - | | |
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) | 79147 | FKRP | Uncertain significance | rs1060502112 | RCV000457702|RCV001833579; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47259998 | 47259998 | A | G | NC_000019.9:g.47259998A>G | ClinGen:CA16616308 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) | 79147 | FKRP | Uncertain significance | rs144236975 | RCV000332543|RCV000634055|RCV001833320; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260013 | 47260013 | C | T | 19:g.47260013C>T | ClinGen:CA9532291 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) | 79147 | FKRP | Uncertain significance | rs764311774 | RCV001318663|RCV001830319; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260014 | 47260014 | G | A | 47260014 | - | | |
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs104894681 | RCV000004441|RCV000360542|RCV000763056; | N | |MedGen:CN517202|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0009364,MedGen:C4284790, | 19 | 47260050 | 47260050 | C | T | 19:g.47260050C>T | ClinGen:CA116699,UniProtKB:Q9H9S5#VAR_018294,OMIM:606596.0003 | C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; | |
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) | 79147 | FKRP | Uncertain significance | rs747785577 | RCV000700840|RCV001825376; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260070 | 47260070 | G | T | 19:g.47260070G>T | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) | 79147 | FKRP | Pathogenic | rs28937903 | RCV000004447|RCV000201040|RCV000532707|RCV000597675; | N | MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202 | 19 | 47260071 | 47260071 | C | A | 19:g.47260071C>A | ClinGen:CA116710,UniProtKB:Q9H9S5#VAR_022855,OMIM:606596.0009 | C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; | |
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) | 79147 | FKRP | Likely pathogenic | rs28937903 | RCV000985158; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260071 | 47260071 | C | T | 19:g.47260071C>T | - | | |
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) | 79147 | FKRP | Likely benign | rs1599940206 | RCV000905675|RCV001275322|RCV001479556; | N | MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47260075 | 47260075 | C | T | 19:g.47260075C>T | - | | |
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) | 79147 | FKRP | Uncertain significance | rs749109905 | RCV000178356|RCV001215498|RCV001832022; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260083 | 47260083 | C | T | 19:g.47260083C>T | ClinGen:CA245430 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) | 79147 | FKRP | Likely pathogenic | rs768606230 | RCV000671396|RCV001573804; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47260091 | 47260091 | C | T | 19:g.47260091C>T | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) | 79147 | FKRP | Uncertain significance | rs763422045 | RCV000692318|RCV000728230|RCV001830507; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260104 | 47260104 | G | A | 19:g.47260104G>A | - | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) | 79147 | FKRP | Conflicting interpretations of pathogenicity | rs143129484 | RCV000727355|RCV001083062|RCV001273522; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260112 | 47260112 | C | T | 19:g.47260112C>T | ClinGen:CA9532315 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1407G>A (p.Leu469=) | 79147 | FKRP | Uncertain significance | rs1351635868 | RCV001323945|RCV001830983; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260114 | 47260114 | G | A | 47260114 | - | | |
NM_024301.5(FKRP):c.1415del (p.Lys472fs) | 79147 | FKRP | Uncertain significance | rs1555739280 | RCV000671966; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260121 | 47260121 | CA | C | 19:g.47260121_47260121del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) | 79147 | FKRP | Uncertain significance | rs752243337 | RCV000664689; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260125 | 47260125 | T | G | 19:g.47260125T>G | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) | 79147 | FKRP | Uncertain significance | rs375326964 | RCV001205826|RCV001574262|RCV001833808; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260134 | 47260134 | G | A | 19:g.47260134G>A | - | | |
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) | 79147 | FKRP | Uncertain significance | rs1424035060 | RCV001248210|RCV001830033; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260136 | 47260136 | G | A | 19:g.47260136G>A | - | | |
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs1301397800 | RCV000634073|RCV000671168|RCV000731349; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202 | 19 | 47260140 | 47260140 | T | C | 19:g.47260140T>C | ClinGen:CA406497356 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) | 79147 | FKRP | Uncertain significance | rs1555739297 | RCV000530214|RCV001834760; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260143 | 47260143 | A | G | 19:g.47260143A>G | ClinGen:CA406497363 | C0265221 Walker-Warburg congenital muscular dystrophy; | |
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) | 79147 | FKRP | Uncertain significance | rs369666163 | RCV000596182|RCV000547216|RCV001834761; | N | MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260146 | 47260146 | A | T | 19:g.47260146A>T | ClinGen:CA9532321 | CN169374 not specified; | |
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) | 79147 | FKRP | Uncertain significance | rs1555739321 | RCV000671771|RCV000996950|RCV001222193; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899 | 19 | 47260173 | 47260173 | T | G | 19:g.47260173T>G | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1475del (p.Thr492fs) | 79147 | FKRP | Likely pathogenic | rs1555739333 | RCV000672588; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260182 | 47260182 | AC | A | 19:g.47260182_47260182del | - | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) | 79147 | FKRP | Uncertain significance | rs763299165 | RCV001325619|RCV001831007; | N | MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515 | 19 | 47260184 | 47260184 | G | A | 47260184 | - | | |
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) | 79147 | FKRP | Pathogenic/Likely pathogenic | rs104894682 | RCV000004444|RCV000471321|RCV000501528|RCV000725596; | N | MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0018276,MedGen:CN229783, Orphanet:370953|MedGen:CN517202 | 19 | 47260193 | 47260193 | T | A | 19:g.47260193T>A | ClinGen:CA116704,OMIM:606596.0006 | C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; | |