MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Muscular Dystrophies, Limb-Girdle (D049288)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)

       Child Nodes:



 Sister Nodes: 
..expandBeta-sarcoglycanopathy (C535435)
..expandCARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE (OMIM:616812)
..expandDysferlinopathy (C537995)
..expandEpidermolysa bullosa simplex and limb girdle muscular dystrophy (C535955)
..expandInclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..expandLimb-girdle muscular dystrophy autosomal recessive (C538640)
..expandLimb-girdle muscular dystrophy type 2A (C535895)
..expandLimb-girdle muscular dystrophy type 2H (C535897)
..expandLimb-girdle muscular dystrophy, type 1B (C535898)
..expandLimb-Girdle Muscular Dystrophy, Type 1G (C563794)
..expandLimb-girdle muscular dystrophy, type 2B (C535899)
..expandMUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE (OMIM:616827)
..expandMUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
..expandMUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..expandMuscular Dystrophy, Hemizygous Lethal Type (C564097)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
..expandMuscular dystrophy, limb-girdle, type 1A (C535906)
..expandMuscular Dystrophy, Limb-Girdle, Type 1C (C563362)
..expandMuscular Dystrophy, Limb-Girdle, Type 1D (C566370)
..expandMuscular Dystrophy, Limb-Girdle, Type 1E (C566589)
..expandMuscular Dystrophy, Limb-Girdle, Type 1F (C564242)
..expandMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H (OMIM:613530)
..expandMuscular Dystrophy, Limb-Girdle, Type 2G (C566599)
..expandMuscular Dystrophy, Limb-Girdle, Type 2I (C564612)
..expandMuscular Dystrophy, Limb-Girdle, Type 2J (C563854)
..expandMuscular Dystrophy, Limb-Girdle, Type 2L (C566968)
..expandMuscular Dystrophy, Limb-Girdle, Type 2M (C566912)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
..expandMYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
..expandMyopathy, limb-girdle, with bone fragility (C536104)
..expandSarcoglycanopathies (D058088) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8341
Name:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
Definition:
Alternative IDs:DO:DOID:0110299
ParentIDs:MESH:D049288
TreeNumbers:C05.651.534.500.280/607155 |C10.668.491.175.500.149/607155 |C16.320.577.280/607155
Synonyms:LGMD2I |LGMDR9 |MDDGC5 |MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED |MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9 |MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 607155
MeSH: 607155
OMIM: 607155;
MSeqDR LSDB:  
Genes: FKRP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001771Achilles tendon contracture
3 HP:0008981Calf muscle hypertrophy
4 HP:0003741Congenital muscular dystrophy
5 HP:0003551Difficulty climbing stairs
6 HP:0002355Difficulty walking
7 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
8 HP:0003236Elevated serum creatine phosphokinase
9 HP:0008305Exercise-induced myoglobinuriaHP:0040284
10 HP:0002359Frequent falls
11 HP:0003307Hyperlordosis
12 HP:0002808Kyphosis
13 HP:0005162Left ventricular failure
14 HP:0000158Macroglossia
15 HP:0003394Muscle cramps
16 HP:0003326Myalgia
17 HP:0002877Nocturnal hypoventilation
18 HP:0003749Pelvic girdle muscle weakness
19 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
20 HP:0002111Restrictive deficit on pulmonary function testing
21 HP:0002650Scoliosis
22 HP:0003547Shoulder girdle muscle weakness
23 HP:0003733Thigh hypertrophy
24 HP:0040083Toe walking
25 HP:0003828Variable expressivity
26 HP:0002948Vertebral fusion
27 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_024301.5(FKRP):c.-272G>A79147FKRPPathogenicrs1555735545RCV000626047; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472493284724932819:g.47249328G>AClinGen:CA658799254C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.-34C>T79147FKRPBenignrs3201779RCV000082170|RCV001527274|RCV001527240|RCV001527241; NMedGen: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:5242819472586744725867419:g.47258674C>TClinGen:CA285757CN169374 not specified;
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)79147FKRPUncertain significancers748272589RCV000822659|RCV001825665; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472587114725871119:g.47258711C>T-
NM_024301.5(FKRP):c.9C>T (p.Leu3=)79147FKRPLikely benignrs756295058RCV000886744|RCV001563825|RCV001563826|RCV001563827|RCV002382036; NMONDO: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,Orpha19472587164725871619:g.47258716C>T-
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)79147FKRPUncertain significancers771333733RCV000382342|RCV000466132|RCV000726517|RCV001273315|RCV002348025|RCV002504022; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:001119472587184725871819:g.47258718C>GClinGen:CA9532092CN169374 not specified;
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys)79147FKRPUncertain significancers1060502108RCV000465267|RCV001828467; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725872047258720NC_000019.9:g.47258720C>TClinGen:CA16616284C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.32C>T (p.Ala11Val)79147FKRPUncertain significancers760295001RCV001214515|RCV001836157|RCV002322038; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472587394725873919:g.47258739C>T-
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)79147FKRPUncertain significancers768376273RCV000543616|RCV000786132|RCV001272533|RCV002367797; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725874447258744NC_000019.9:g.47258744G>AClinGen:CA9532098C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.54T>A (p.Leu18=)79147FKRPConflicting interpretations of pathogenicityrs565563742RCV000319756|RCV001085217|RCV001828260|RCV002348018; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472587614725876119:g.47258761T>AClinGen:CA9532101CN169374 not specified;
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)79147FKRPUncertain significancers201951207RCV000821581|RCV001825661|RCV002363165|RCV002495174; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0009364,MedGen:C4284790,O19472587754725877519:g.47258775A>G-
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)79147FKRPPathogenic/Likely pathogenicrs752731569RCV000671994|RCV000732483; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN51720219472587844725878419:g.47258784G>A-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)79147FKRPUncertain significancers1060502110RCV000467867|RCV000594457|RCV001833578; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725878947258789NC_000019.9:g.47258789C>GClinGen:CA16616295CN169374 not specified;
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)79147FKRPUncertain significancers756205019RCV001241408|RCV001828976|RCV003145464; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN51720219472587904725879019:g.47258790A>G-
NM_024301.5(FKRP):c.85C>T (p.His29Tyr)79147FKRPUncertain significancers886043192RCV000282353|RCV001347668|RCV001828221; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472587924725879219:g.47258792C>TClinGen:CA10605222CN169374 not specified;
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)79147FKRPUncertain significancers1412050261RCV001241301|RCV001828973; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588134725881319:g.47258813G>T-
NM_024301.5(FKRP):c.119G>A (p.Arg40His)79147FKRPUncertain significance-1RCV001563922|RCV001563920|RCV001563921; NMONDO: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:5242819472588264725882647258826-
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)79147FKRPUncertain significancers201497063RCV000552107|RCV001829569|RCV002506304; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp194725882947258829NC_000019.9:g.47258829G>TClinGen:CA9532114C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.135C>T (p.Ala45=)79147FKRPBenignrs2287717RCV000082171|RCV000576338|RCV000578086|RCV001272534|RCV001521584|RCV001527275|RCV001527276|RCV002381405; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515||MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,19472588424725884219:g.47258842C>TClinGen:CA285758C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.151G>A (p.Val51Ile)79147FKRPUncertain significancers769377092RCV000359216|RCV000475956|RCV001275308; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588584725885819:g.47258858G>AClinGen:CA9532117CN169374 not specified;
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)79147FKRPPathogenicrs1290836394RCV000559625|RCV001834762|RCV002404397; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725886247258863NC_000019.9:g.47258865_47258869dupClinGen:CA658658823C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)79147FKRPLikely pathogenicrs28937905RCV000004449; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588674725886719:g.47258867C>TClinGen:CA116714,UniProtKB:Q9H9S5#VAR_019272,OMIM:606596.0011C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)79147FKRPPathogenicrs886042506RCV000364855|RCV000665348|RCV000812275; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725886747258868NC_000019.9:g.47258869_47258872dupClinGen:CA10604327C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.170_186dup (p.Val63fs)79147FKRPLikely pathogenicrs1555738149RCV000669278; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588744725887519:g.47258874_47258875insCGAGGCATTTGACAACG-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.168C>T (p.Phe56=)79147FKRPLikely benignrs1443120812RCV000970577|RCV002479134|RCV002409284; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orpha19472588754725887519:g.47258875C>T-
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)79147FKRPUncertain significancers773024545RCV000308811|RCV000634051|RCV001272535; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588764725887619:g.47258876G>AClinGen:CA9532119CN169374 not specified;
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr)79147FKRPUncertain significancers751506122RCV001056388|RCV001279352; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588794725887919:g.47258879G>A-
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)79147FKRPUncertain significancers1311501368RCV001035053|RCV001827210; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472588854725888519:g.47258885G>T-
NM_024301.5(FKRP):c.185C>T (p.Ala62Val)79147FKRPUncertain significancers1448177835RCV000697777|RCV001830533; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725889247258892NC_000019.9:g.47258892C>T-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.206_208del (p.Ser69del)79147FKRPLikely pathogenicrs2054893955RCV001209480|RCV001836149; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472589114725891319:g.47258911_47258913del-
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)79147FKRPUncertain significancers990847012RCV001295759|RCV001830129|RCV002418887|RCV002493553; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,O19472589124725891247258912-
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)79147FKRPLikely pathogenicrs1555738201RCV000671226; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472589214725892119:g.47258921C>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)79147FKRPLikely pathogenicrs1555738204RCV000666517; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472589284725892919:g.47258928_47258929insCCCAG-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)79147FKRPPathogenic/Likely pathogenic-1RCV001379447|RCV001826153|RCV002447504; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472589364725893647258936-
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser)79147FKRPUncertain significancers747511445RCV000468926|RCV001770340|RCV001828468; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725893947258939NC_000019.9:g.47258939C>TClinGen:CA9532130C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.235G>A (p.Val79Met)79147FKRPConflicting interpretations of pathogenicityrs104894683RCV000004450|RCV000236146|RCV000513718|RCV001083979|RCV002444421; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN230736194725894247258942NC_000019.9:g.47258942G>AClinGen:CA116716,UniProtKB:Q9H9S5#VAR_065055,OMIM:606596.0012C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del)79147FKRPUncertain significancers2054894857RCV001352553|RCV001831183; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472589424725894447258941-
NM_024301.5(FKRP):c.249C>T (p.Ala83=)79147FKRPBenign/Likely benignrs149030303RCV000082174|RCV000233707|RCV001272537|RCV001725965|RCV002426645|RCV002483151; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO19472589564725895619:g.47258956C>TClinGen:CA149246CN169374 not specified;
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)79147FKRPPathogenic/Likely pathogenicrs770711331RCV000665956|RCV000700227|RCV001784236|RCV002499150; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,O19472589734725897319:g.47258973C>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)79147FKRPLikely pathogenicrs1555738245RCV000667008; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472589744725897419:g.47258974_47258975insT-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)79147FKRPUncertain significancers1220815256RCV000669620|RCV002499165; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:619472589814725898219:g.47258981_47258982insCCCTGC-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.282C>T (p.Pro94=)79147FKRPConflicting interpretations of pathogenicity-1RCV001563918|RCV001563828|RCV001563919|RCV002072148; NMONDO: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|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp19472589894725898947258989-
NM_024301.5(FKRP):c.295G>A (p.Val99Met)79147FKRPUncertain significancers776733780RCV000531133|RCV001834763|RCV002438329|RCV003144323; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MedGen:CN517202194725900247259002NC_000019.9:g.47259002G>AClinGen:CA9532139C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys)79147FKRPUncertain significancers1244445645RCV000687283|RCV001272538; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472590054725900519:g.47259005C>T-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.299G>A (p.Arg100His)79147FKRPUncertain significancers1174581828RCV001241329|RCV001836210; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472590064725900619:g.47259006G>A-
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)79147FKRPUncertain significancers1473327480RCV001347810|RCV001831135|RCV002447423; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472590124725901247259012-
NM_024301.5(FKRP):c.315G>T (p.Gln105His)79147FKRPUncertain significancers765444642RCV001231603|RCV001828848|RCV002322116|RCV003145442; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MedGen:CN51720219472590224725902219:g.47259022G>T-
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)79147FKRPUncertain significancers1164727838RCV000809005|RCV001772089|RCV001825610|RCV002325575|RCV002487746; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,M19472590234725902319:g.47259023C>T-
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)79147FKRPUncertain significancers750679682RCV000369694|RCV001327233|RCV001835769; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472590264725902619:g.47259026G>TClinGen:CA9532142CN169374 not specified;
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)79147FKRPConflicting interpretations of pathogenicityrs936866997RCV001063677|RCV001275309|RCV001336095|RCV002320323|RCV002462309; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MedGen:CN230736|MedGen:CN51720219472590304725903019:g.47259030T>C-
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)79147FKRPUncertain significancers758759348RCV000459145|RCV000765451|RCV000991999|RCV001272539|RCV002446816; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,OMIM:236670,Orpha19472590354725903519:g.47259035C>TClinGen:CA9532143C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)79147FKRPConflicting interpretations of pathogenicityrs143793528RCV000082175|RCV000227473|RCV000577971|RCV000711662|RCV001563824|RCV001563823|RCV002453409; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0013157,MedGen:C315019472590484725904819:g.47259048C>GClinGen:CA149248,UniProtKB:Q9H9S5#VAR_018280C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.345_349del (p.Arg116fs)79147FKRPLikely pathogenicrs1555738311RCV000673440; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472590514725905519:g.47259051_47259055del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)79147FKRPUncertain significancers1060502106RCV000456630|RCV001275310|RCV002461191; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725908647259086NC_000019.9:g.47259086G>AClinGen:CA16616078C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer)79147FKRPPathogenicrs587777823RCV000004443; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725909247259093NC_000019.9:g.47259094_47259097dupClinGen:CA116703,OMIM:606596.0005C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)79147FKRPUncertain significancers900304726RCV001243589|RCV001835175|RCV002375289; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472591014725910119:g.47259101G>C-
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)79147FKRPUncertain significancers755588907RCV001279353; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472591024725910219:g.47259102G>C-
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)79147FKRPUncertain significancers104894690RCV000004452|RCV002512756; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472591074725910719:g.47259107C>TClinGen:CA116720,UniProtKB:Q9H9S5#VAR_065056,OMIM:606596.0014C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)79147FKRPUncertain significancers398124392RCV000082176|RCV000673389|RCV002505002|RCV002513846; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,O19472591114725911119:g.47259111C>AClinGen:CA223739C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)79147FKRPBenign/Likely benignrs148206382RCV000153241|RCV000512944|RCV000672414|RCV000852754|RCV001081194|RCV002326812|RCV002498510; NMedGen: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,Human19472591344725913419:g.47259134C>AClinGen:CA180039,UniProtKB:Q9H9S5#VAR_018282C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.434T>G (p.Val145Gly)79147FKRPUncertain significance-1RCV001870152|RCV002478125|RCV002547933; NMONDO: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,Orp19472591414725914147259141-
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)79147FKRPUncertain significancers1599935206RCV000805524|RCV001830747; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472591494725914919:g.47259149C>A-
NM_024301.5(FKRP):c.446G>A (p.Arg149His)79147FKRPUncertain significancers1449983261RCV000536541|RCV001834764; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472591534725915319:g.47259153G>AClinGen:CA406495346C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)79147FKRPConflicting interpretations of pathogenicityrs199714523RCV000464325|RCV000408156|RCV000710136|RCV000765452|RCV001275311|RCV002338856; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C428419472591634725916319:g.47259163C>GClinGen:CA9532153CN169374 not specified;
NM_024301.5(FKRP):c.464del (p.Leu155fs)79147FKRPLikely pathogenicrs1555738456RCV000671874; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472591714725917119:g.47259171_47259171del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.483C>T (p.Ala161=)79147FKRPConflicting interpretations of pathogenicityrs797045576RCV000193165|RCV000674471|RCV001496128|RCV002327026; NMedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN230736194725919047259190NC_000019.9:g.47259190C>TClinGen:CA206471C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)79147FKRPUncertain significancers1008630400RCV001064007|RCV001827410; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472591984725919819:g.47259198A>G-
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)79147FKRPUncertain significancers1555738483RCV000673672; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592094725920919:g.47259209T>C-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)79147FKRPLikely pathogenic-1RCV001815627; NMONDO: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:89919472592104725921047259210-
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)79147FKRPUncertain significancers1322879846RCV000711663|RCV000809832|RCV001272540; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725922447259224NC_000019.9:g.47259224G>A-
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)79147FKRPUncertain significancers1318966349RCV000734707|RCV001239053|RCV001825484|RCV002343606; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725923147259231NC_000019.9:g.47259231T>C-
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)79147FKRPPathogenic/Likely pathogenicrs1555738502RCV000672053|RCV001868261; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472592334725923319:g.47259233C>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)79147FKRPLikely pathogenic-1RCV002470470; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725923347259233NC_000019.9:g.47259233C>G-
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)79147FKRPUncertain significancers755316345RCV001297833|RCV001830145|RCV002350531; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472592344725923447259234-
NM_024301.5(FKRP):c.531G>A (p.Glu177=)79147FKRPConflicting interpretations of pathogenicityrs768007208RCV000725725|RCV001081894|RCV001828220|RCV002348001; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472592384725923819:g.47259238G>AClinGen:CA9532159CN169374 not specified;
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)79147FKRPUncertain significancers777245868RCV000634057|RCV001275313|RCV001591411|RCV002343234|RCV002492962; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846194725924847259248NC_000019.9:g.47259248C>AClinGen:CA9532162C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)79147FKRPUncertain significance-1RCV001903206|RCV002478295; NMONDO: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,Orp19472592484725924847259248-
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)79147FKRPConflicting interpretations of pathogenicityrs753390261RCV000324567|RCV000673996|RCV001859617|RCV002348000; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN23073619472592514725925119:g.47259251T>CClinGen:CA9532163C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)79147FKRPPathogenicrs543163491RCV000336106|RCV000810074|RCV000763055|RCV000984175; NMedGen: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:C3150413,OMIM:613153,194725925247259252NC_000019.9:g.47259252A>GClinGen:CA9532164,UniProtKB:Q9H9S5#VAR_065058C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser)79147FKRPUncertain significancers543163491RCV001279354; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592524725925219:g.47259252A>C-
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)79147FKRPUncertain significancers1489408026RCV000796018|RCV002345755|RCV001272541|RCV002495044; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN230736|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,O19472592584725925819:g.47259258C>T-
NM_024301.5(FKRP):c.558dup (p.Ala187fs)79147FKRPLikely pathogenicrs1191737604RCV000668168; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592604725926119:g.47259260_47259261insC-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.554C>T (p.Ala185Val)79147FKRPUncertain significancers1032563159RCV000634050|RCV001829782|RCV002343233; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472592614725926119:g.47259261C>TClinGen:CA309099350C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup)79147FKRPUncertain significancers1555738552RCV000674605; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592634725926419:g.47259263_47259264insCCG-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu)79147FKRPUncertain significancers745619101RCV000266806|RCV001065813|RCV001272542; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592644725926419:g.47259264C>TClinGen:CA10605068CN169374 not specified;
NM_024301.5(FKRP):c.558C>A (p.Pro186=)79147FKRPLikely benign-1RCV002102478|RCV002498301; NMONDO: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,Orp19472592654725926547259265-
NM_024301.5(FKRP):c.561C>G (p.Ala187=)79147FKRPLikely benignrs771770302RCV000940625|RCV001395840|RCV001832147; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592684725926819:g.47259268C>G-
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)79147FKRPUncertain significancers746905689RCV000634060|RCV000711664|RCV001272543|RCV002506439; NMONDO: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; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,19472592694725926919:g.47259269G>AClinGen:CA9532169CN169374 not specified;
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)79147FKRPLikely pathogenicrs1555738568RCV000668109; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592694725927019:g.47259269_47259270insCGCCC-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)79147FKRPUncertain significancers768762059RCV000489382|RCV001242700|RCV001834588|RCV002350087|RCV002475962|RCV003144287; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,M194725927047259270NC_000019.9:g.47259270C>TClinGen:CA9532170CN169374 not specified;
NM_024301.5(FKRP):c.567C>T (p.Pro189=)79147FKRPConflicting interpretations of pathogenicityrs201454433RCV000254084|RCV000725158|RCV001085023|RCV001828147|RCV002347967; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472592744725927419:g.47259274C>TClinGen:CA9532171CN169374 not specified;
NM_024301.5(FKRP):c.569G>A (p.Arg190His)79147FKRPUncertain significancers917645867RCV001202297|RCV001751372|RCV001828625|RCV002348654; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472592764725927619:g.47259276G>A-
NM_024301.5(FKRP):c.582G>A (p.Leu194=)79147FKRPLikely benignrs771223960RCV000228492|RCV000669233; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472592894725928919:g.47259289G>AClinGen:CA9532173C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.585C>T (p.Asp195=)79147FKRPBenignrs75079578RCV000082179|RCV000576800|RCV001081711|RCV001727566|RCV002354283|RCV002505004; NMedGen:CN169374|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,O19472592924725929219:g.47259292C>TClinGen:CA149250C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)79147FKRPConflicting interpretations of pathogenicityrs759875552RCV000178354|RCV000548844|RCV000674993|RCV002492782; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,O19472592934725929319:g.47259293G>AClinGen:CA245426C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)79147FKRPConflicting interpretations of pathogenicityrs759875552RCV000314155|RCV000673934|RCV002519121; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472592934725929319:g.47259293G>CClinGen:CA9532174C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)79147FKRPUncertain significance-1RCV002465014; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725929447259294NC_000019.9:g.47259294G>A-
NM_024301.5(FKRP):c.606G>A (p.Leu202=)79147FKRPConflicting interpretations of pathogenicityrs140084192RCV000082180|RCV000723553|RCV001088477|RCV001831885|RCV002354284; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472593134725931319:g.47259313G>AClinGen:CA223743CN169374 not specified;
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)79147FKRPUncertain significancers753297636RCV000283493|RCV000820298|RCV001275314|RCV002356388|RCV002504004; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846194725932047259320NC_000019.9:g.47259320C>GClinGen:CA9532178CN169374 not specified;
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)79147FKRPUncertain significancers1037585549RCV001321618|RCV002476507; NMONDO: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,Orpha19472593234725932347259323-
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)79147FKRPUncertain significancers778472624RCV000519238|RCV000697869|RCV001273517|RCV002367746; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472593354725933519:g.47259335C>GClinGen:CA9532180CN169374 not specified;
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)79147FKRPUncertain significancers750041378RCV000383820|RCV000460118|RCV001833398; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472593394725933919:g.47259339C>TClinGen:CA9532181CN169374 not specified;
NM_024301.5(FKRP):c.633G>A (p.Ser211=)79147FKRPConflicting interpretations of pathogenicityrs921883036RCV001226232|RCV001828806|RCV002484228; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp19472593404725934019:g.47259340G>A-
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)79147FKRPConflicting interpretations of pathogenicity-1RCV001977891|RCV002361338|RCV002464501; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN230736|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472593534725935347259353-
NM_024301.5(FKRP):c.656del (p.Gly219fs)79147FKRPPathogenic/Likely pathogenicrs1555738651RCV000665862|RCV001855447; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472593614725936119:g.47259361_47259361del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)79147FKRPUncertain significancers878855080RCV000234060|RCV000670321|RCV002365214; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725936247259362NC_000019.9:g.47259362G>AClinGen:CA10583809C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.675del (p.Thr226fs)79147FKRPPathogenicrs886043706RCV000346543|RCV000673066|RCV001218316; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472593824725938219:g.47259382_47259382delClinGen:CA10605846C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn)79147FKRPUncertain significancers772380755RCV001242001|RCV001828989; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472593844725938419:g.47259384C>A-
NM_024301.5(FKRP):c.688_722del (p.Gly230fs)79147FKRPLikely pathogenicrs1555738675RCV000674998; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472593884725942219:g.47259388_47259422del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.686del (p.Arg229fs)79147FKRPPathogenic/Likely pathogenicrs1555738686RCV000669713|RCV001009211|RCV001855525; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472593934725939319:g.47259393_47259393del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.696G>T (p.Ala232=)79147FKRPConflicting interpretations of pathogenicityrs398124394RCV000082181|RCV000665517|RCV001494780; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472594034725940319:g.47259403G>TClinGen:CA223745C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)79147FKRPUncertain significancers754347622RCV000692322|RCV001830508|RCV002485652; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,Orpha194725941347259413NC_000019.9:g.47259413C>G-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.708G>A (p.Leu236=)79147FKRPLikely benignrs886038683RCV000250209|RCV000668416|RCV001477386; NMedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472594154725941519:g.47259415G>AClinGen:CA10587341C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.725C>T (p.Ala242Val)79147FKRPUncertain significancers1298321836RCV001247009|RCV001773562|RCV001835287; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472594324725943219:g.47259432C>T-
NM_024301.5(FKRP):c.731G>A (p.Arg244His)79147FKRPConflicting interpretations of pathogenicityrs764641619RCV000331999|RCV000457561|RCV000664793|RCV000725201|RCV002379117; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MedGen:CN23073619472594384725943819:g.47259438G>AClinGen:CA9532194C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)79147FKRPConflicting interpretations of pathogenicityrs528000488RCV000711665|RCV001079526|RCV001275315|RCV002381484; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472594474725944719:g.47259447C>AClinGen:CA234005CN169374 not specified;
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)79147FKRPUncertain significancers757955092RCV001208376|RCV001833831|RCV003145380; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN51720219472594524725945219:g.47259452G>A-
NM_024301.5(FKRP):c.750G>A (p.Thr250=)79147FKRPLikely benignrs1390038437RCV000698746|RCV001275316|RCV002388289; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472594574725945719:g.47259457G>A-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)79147FKRPUncertain significancers959679901RCV000549762|RCV001834765|RCV002395328; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725946447259464NC_000019.9:g.47259464G>TClinGen:CA309099464C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)79147FKRPUncertain significancers2054916842RCV001065504|RCV002479385|RCV002393317; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,Orpha19472594704725947019:g.47259470T>A-
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)79147FKRPPathogenicrs104894689RCV000004451; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472594714725947119:g.47259471G>AClinGen:CA116718,OMIM:606596.0013C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.777C>T (p.Arg259=)79147FKRPLikely benignrs766086486RCV001240877|RCV001828961; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472594844725948419:g.47259484C>T-
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)79147FKRPPathogenic/Likely pathogenicrs1555738753RCV000669672|RCV001855524|RCV002499167; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp19472594854725948519:g.47259485G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp)79147FKRPUncertain significancers1414659732RCV001203338|RCV001828632; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472594874725948719:g.47259487G>C-
NM_024301.5(FKRP):c.796del (p.Ala266fs)79147FKRPPathogenic/Likely pathogenicrs1555738764RCV000672793|RCV002531323; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472595014725950119:g.47259501_47259501del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)79147FKRPUncertain significancers1320991574RCV001053933|RCV001827338|RCV002416396; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472595014725950119:g.47259501G>T-
NM_024301.5(FKRP):c.797C>T (p.Ala266Val)79147FKRPUncertain significancers1276654268RCV001345994|RCV001825920; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472595044725950447259504-
NM_024301.5(FKRP):c.809G>A (p.Arg270His)79147FKRPUncertain significancers1025118379RCV001308238|RCV001830242; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472595164725951647259516-
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)79147FKRPConflicting interpretations of pathogenicityrs1247934219RCV000596371|RCV000674695|RCV000810990; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725953047259530NC_000019.9:g.47259530C>TClinGen:CA406496081C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)79147FKRPPathogenic/Likely pathogenicrs28937900RCV000004442|RCV000082182|RCV000231711|RCV000503787|RCV000515332|RCV000612115|RCV000626960|RCV000660622|RCV001197775|RCV001329320|RCV001526640|RCV002222338|RCV002408451; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0018276,MedGen:CN229783, Orphanet:370953|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34194725953347259533NC_000019.9:g.47259533C>AClinGen:CA116701,UniProtKB:Q9H9S5#VAR_018285,OMIM:606596.0004,ClinVar:224674C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)79147FKRPUncertain significance-1RCV002029966|RCV002478088; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,Orpha19472595424725954247259542-
NM_024301.5(FKRP):c.849G>A (p.Arg283=)79147FKRPLikely benignrs2054920441RCV001279355|RCV002069458|RCV002447247; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN23073619472595564725955619:g.47259556G>A-
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)79147FKRPUncertain significancers1435780847RCV000702546|RCV001825385|RCV002507227; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp194725955847259558NC_000019.9:g.47259558T>C-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)79147FKRPUncertain significance-1RCV001563924|RCV001563923|RCV001563925|RCV001882663; NMONDO: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|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp19472595614725956147259561-
NM_024301.5(FKRP):c.859_869del (p.Phe287fs)79147FKRPLikely pathogenicrs1555738823RCV000669569; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472595664725957619:g.47259566_47259576del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.885C>T (p.Arg295=)79147FKRPConflicting interpretations of pathogenicityrs769005880RCV000394110|RCV001083609|RCV001275317|RCV001729511|RCV002446530; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN169374|MedGen:CN23073619472595924725959219:g.47259592C>TClinGen:CA9532206CN169374 not specified;
NM_024301.5(FKRP):c.898G>A (p.Val300Met)79147FKRPConflicting interpretations of pathogenicityrs563033008RCV000226616|RCV000398763|RCV000726141|RCV000672226|RCV000765453|RCV001731540|RCV002374378; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,M194725960547259605NC_000019.9:g.47259605G>AClinGen:CA9532207,UniProtKB:Q9H9S5#VAR_065061C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)79147FKRPPathogenic/Likely pathogenicrs104894691RCV000004453|RCV000732974|RCV000814162|RCV001813735|RCV002371759|RCV002482826; NMONDO: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|MedGen:CN230736|MONDO:MONDO:0011787,M194725960647259606NC_000019.9:g.47259606T>CClinGen:CA116722,UniProtKB:Q9H9S5#VAR_065060,OMIM:606596.0015C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)79147FKRPConflicting interpretations of pathogenicityrs762283381RCV000356554|RCV000469653|RCV000765454|RCV001273518|RCV002374484; NMedGen: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:0009364,MedGen:C4284790,OMIM:236670,19472596114725961119:g.47259611G>AClinGen:CA9532208CN169374 not specified;
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)79147FKRPPathogenic/Likely pathogenicrs104894692RCV000004454|RCV000004455|RCV000494504|RCV000805125|RCV000844942; NMONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|194725962647259626NC_000019.9:g.47259626T>AClinGen:CA116724,UniProtKB:Q9H9S5#VAR_022850,OMIM:606596.0016C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)79147FKRPPathogenic/Likely pathogenicrs765885747RCV000665088|RCV000760366|RCV001055645|RCV002369793|RCV002499146; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,M19472596354725963519:g.47259635G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)79147FKRPUncertain significance-1RCV001896841|RCV002490201; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp19472596354725963547259635-
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)79147FKRPLikely pathogenicrs1483781400RCV000665682; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472596384725963819:g.47259638G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)79147FKRPPathogenicrs398124395RCV000082183|RCV000178344|RCV001050280; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725964847259648NC_000019.9:g.47259648C>TClinGen:CA202828C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.948del (p.Cys317fs)79147FKRPPathogenicrs748798133RCV000822337|RCV001580551|RCV001784454|RCV001830816|RCV002507441; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,O19472596504725965019:g.47259650_47259650del-
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)79147FKRPConflicting interpretations of pathogenicityrs28937901RCV000004445|RCV000675047|RCV003144104; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN51720219472596534725965319:g.47259653C>AClinGen:CA116706,OMIM:606596.0007CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)79147FKRPConflicting interpretations of pathogenicityrs28937901RCV000178358|RCV000670956|RCV002517730; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472596534725965319:g.47259653C>TClinGen:CA245434,UniProtKB:Q9H9S5#VAR_022851C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)79147FKRPLikely pathogenicrs28937901RCV001327126|RCV001831029; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472596534725965347259653-
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)79147FKRPPathogenic/Likely pathogenicrs752582904RCV001065681|RCV002500502|RCV000263428; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,Orpha19472596544725965419:g.47259654C>GClinGen:CA245436,UniProtKB:Q9H9S5#VAR_018289C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)79147FKRPPathogenic/Likely pathogenicrs1555738883RCV000674174|RCV002532159; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472596644725966519:g.47259664_47259665del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.960_970del (p.Ala321fs)79147FKRPPathogenicrs1599937963RCV000855420; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472596644725967419:g.47259664_47259674del-
NM_024301.5(FKRP):c.959G>A (p.Arg320His)79147FKRPUncertain significance-1RCV002005736|RCV002486520; NMONDO: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,Orp19472596664725966647259666-
NM_024301.5(FKRP):c.968G>A (p.Arg323His)79147FKRPConflicting interpretations of pathogenicityrs1349031936RCV000634072|RCV000662004|RCV000662005|RCV001171504; NMONDO: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:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; M19472596754725967519:g.47259675G>AClinGen:CA406496378C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)79147FKRPPathogenic/Likely pathogenicrs886044183RCV000282481|RCV000461986|RCV000726333; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN51720219472596774725967719:g.47259677G>TClinGen:CA10606452C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)79147FKRPUncertain significancers886044183RCV001342674|RCV001825888; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472596774725967747259677-
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)79147FKRPUncertain significancers1365712686RCV000823403|RCV001830821|RCV002381877; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472596794725967919:g.47259679G>C-
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)79147FKRPUncertain significancers1201873802RCV000799009|RCV001273519|RCV001772057|RCV002386412; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MedGen:CN23073619472596834725968319:g.47259683G>A-
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)79147FKRPUncertain significancers867877678RCV000489405|RCV001835825|RCV002527020; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472596864725968619:g.47259686C>GClinGen:CA406496400CN169374 not specified;
NM_024301.5(FKRP):c.982_984del (p.Tyr328del)79147FKRPUncertain significancers886043458RCV000398483|RCV000634066|RCV001828233; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472596894725969119:g.47259689_47259691delClinGen:CA10605545CN169374 not specified;
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)79147FKRPUncertain significancers1599938256RCV000991997|RCV001858744|RCV001836057|RCV002497286; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011787,MedGen:C1846672,O19472597064725970719:g.47259706_47259707insGAGGCTGCGGGCGTGCGC-
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)79147FKRPUncertain significancers776947530RCV000306773|RCV000797226|RCV001833326|RCV002401982|RCV002480010; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846194725971047259710NC_000019.9:g.47259710G>AClinGen:CA9532222CN169374 not specified;
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)79147FKRPConflicting interpretations of pathogenicityrs1173430388RCV000669472|RCV001868232; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472597194725971919:g.47259719G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)79147FKRPConflicting interpretations of pathogenicityrs1450841129RCV000674783|RCV000735132|RCV002343423|RCV002531360; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472597234725972319:g.47259723G>A-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)79147FKRPUncertain significancers1322997651RCV000538732|RCV000765455|RCV001273520; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha19472597264725972619:g.47259726A>TClinGen:CA406496482C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)79147FKRPPathogenic/Likely pathogenicrs587780334RCV000668106|RCV001554930|RCV002530737; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472597344725973419:g.47259734G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)79147FKRPLikely pathogenicrs753811189RCV000576484; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472597434725974319:g.47259743T>CClinGen:CA406496519C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr)79147FKRPUncertain significancers982005875RCV001339166|RCV001830410; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472597584725975847259758-
NM_024301.5(FKRP):c.1056C>T (p.Arg352=)79147FKRPLikely benignrs886038682RCV000248317|RCV000668941|RCV002518654; NMedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472597634725976319:g.47259763C>TClinGen:CA10587342C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1078G>C (p.Asp360His)79147FKRPUncertain significancers770195088RCV000668104; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472597854725978519:g.47259785G>C-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)79147FKRPUncertain significancers1184684815RCV001340070|RCV001830417|RCV002438774|RCV002486367; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,O19472598244725982447259824-
NM_024301.5(FKRP):c.1119del (p.Asn374fs)79147FKRPLikely pathogenicrs1555739041RCV000674304; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472598264725982619:g.47259826_47259826del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1119C>A (p.Gly373=)79147FKRPLikely benignrs370575962RCV000863518|RCV001275318|RCV001585810|RCV002434076; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MedGen:CN23073619472598264725982619:g.47259826C>A-
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser)79147FKRPUncertain significance-1RCV002024306|RCV002479803; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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,Orpha19472598304725983047259830-
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)79147FKRPUncertain significance-1RCV001527407; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472598374725983747259837-
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)79147FKRPPathogenic/Likely pathogenicrs754403441RCV000672422|RCV000688076|RCV002282320; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN51720219472598424725984319:g.47259842_47259843insG-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)79147FKRPUncertain significancers140217866RCV000734659|RCV001240350|RCV001830641|RCV002325452|RCV002499380; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,M194725984347259843NC_000019.9:g.47259843G>A-
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)79147FKRPUncertain significancers140217866RCV001056582|RCV001832510; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472598434725984319:g.47259843G>C-
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)79147FKRPUncertain significancers751586523RCV000824079|RCV001830825; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472598464725984619:g.47259846G>A-
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)79147FKRPPathogenicrs748087383RCV000674951|RCV001861850; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472598744725987519:g.47259874_47259875del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1167G>A (p.Glu389=)79147FKRPLikely benignrs771708277RCV000869518|RCV001275319|RCV001489188; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472598744725987419:g.47259874G>A-
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)79147FKRPConflicting interpretations of pathogenicityrs140679502RCV000192864|RCV000456138|RCV001093246|RCV001275320|RCV002336274; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725988447259884NC_000019.9:g.47259884G>AClinGen:CA205982CN169374 not specified;
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)79147FKRPUncertain significancers767570224RCV000501908|RCV001048190|RCV001755740|RCV001829425; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725989747259897NC_000019.9:g.47259897C>TClinGen:CA9532272CN169374 not specified;
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)79147FKRPUncertain significancers1471167981RCV001348079|RCV001831138|RCV002341726|RCV002486424; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,19472598994725989947259899-
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)79147FKRPUncertain significancers1230638385RCV001241623|RCV001288179|RCV001828983|RCV002480806; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,O19472599024725990219:g.47259902G>A-
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn)79147FKRPUncertain significancers1555739117RCV000665981|RCV001855450|RCV002485527; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orpha19472599084725990819:g.47259908G>A-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1208del (p.Phe403fs)79147FKRPUncertain significancers1555739119RCV000667203; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472599114725991119:g.47259911_47259911del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1236C>T (p.His412=)79147FKRPConflicting interpretations of pathogenicityrs201076863RCV000732907|RCV001086434|RCV001830628|RCV002360859; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736194725994347259943NC_000019.9:g.47259943C>T-
NM_024301.5(FKRP):c.1267del (p.Arg423fs)79147FKRPPathogenicrs886044083RCV000376382|RCV002272206; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472599704725997019:g.47259970_47259970delClinGen:CA10606326C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)79147FKRPUncertain significancers769568971RCV000634052|RCV000726824|RCV001197776|RCV001275321|RCV002376962|RCV002490905; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0011787,MedGen:C184619472599774725997719:g.47259977A>CClinGen:CA9532287CN169374 not specified;
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)79147FKRPUncertain significancers376989573RCV001233600|RCV001828860|RCV002375244|RCV002491752; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,O19472599784725997819:g.47259978A>G-
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala)79147FKRPUncertain significancers1060502112RCV000457702|RCV001833579; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725999847259998NC_000019.9:g.47259998A>GClinGen:CA16616308C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)79147FKRPLikely pathogenicrs1599939853RCV000810942|RCV002507413; NMONDO: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,Orp19472600034726000319:g.47260003G>A-
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)79147FKRPUncertain significancers144236975RCV000332543|RCV000634055|RCV001833320|RCV002379114; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472600134726001319:g.47260013C>TClinGen:CA9532291CN169374 not specified;
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln)79147FKRPUncertain significancers764311774RCV001318663|RCV001830319; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472600144726001447260014-
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)79147FKRPLikely pathogenic-1RCV003107986; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726003447260034NC_000019.9:g.47260034G>A-
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)79147FKRPPathogenic/Likely pathogenicrs104894681RCV000360542|RCV000763056|RCV002226440|RCV002381242; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen19472600504726005019:g.47260050C>TClinGen:CA116699,UniProtKB:Q9H9S5#VAR_018294,OMIM:606596.0003C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu)79147FKRPUncertain significancers886044542RCV000343070|RCV002379155|RCV002487285|RCV002518144; NMedGen:CN517202|MedGen:CN230736|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, Orphanet:899; MONDO:MONDO:0013157,M19472600594726005919:g.47260059C>TClinGen:CA10606888CN169374 not specified;
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)79147FKRPUncertain significancers747785577RCV000700840|RCV001825376|RCV002485723|RCV002386242; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; M19472600704726007019:g.47260070G>T-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)79147FKRPPathogenicrs28937903RCV000004447|RCV000201040|RCV000532707|RCV000597675; NMONDO: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:CN51720219472600714726007119:g.47260071C>AClinGen:CA116710,UniProtKB:Q9H9S5#VAR_022855,OMIM:606596.0009C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)79147FKRPLikely pathogenicrs28937903RCV000985158; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472600714726007119:g.47260071C>T-
NM_024301.5(FKRP):c.1368C>T (p.Gly456=)79147FKRPLikely benignrs1599940206RCV000905675|RCV001275322|RCV001479556|RCV002382057; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN23073619472600754726007519:g.47260075C>T-
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)79147FKRPUncertain significancers749109905RCV000178356|RCV001215498|RCV001832022|RCV002381576|RCV002485167; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,M19472600834726008319:g.47260083C>TClinGen:CA245430CN169374 not specified;
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)79147FKRPPathogenic/Likely pathogenicrs768606230RCV000671396|RCV001573804|RCV002531280; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472600914726009119:g.47260091C>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)79147FKRPUncertain significancers763422045RCV000692318|RCV000728230|RCV001830507|RCV002388238; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472601044726010419:g.47260104G>A-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)79147FKRPConflicting interpretations of pathogenicityrs143129484RCV000727355|RCV001083062|RCV001273522|RCV002393016; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472601124726011219:g.47260112C>TClinGen:CA9532315CN169374 not specified;
NM_024301.5(FKRP):c.1407G>A (p.Leu469=)79147FKRPLikely benignrs1351635868RCV001323945|RCV001830983|RCV002395710; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN23073619472601144726011447260114-
NM_024301.5(FKRP):c.1415del (p.Lys472fs)79147FKRPConflicting interpretations of pathogenicityrs1555739280RCV000671966|RCV002233101; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:10201519472601214726012119:g.47260121_47260121del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)79147FKRPUncertain significancers752243337RCV000664689|RCV002530634; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472601254726012519:g.47260125T>G-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)79147FKRPUncertain significancers375326964RCV001205826|RCV001574262|RCV002497700|RCV001833808|RCV002393463; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|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:613153,19472601344726013419:g.47260134G>A-
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile)79147FKRPUncertain significancers1424035060RCV001248210|RCV001830033; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472601364726013619:g.47260136G>A-
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)79147FKRPPathogenic/Likely pathogenicrs1301397800RCV000634073|RCV000671168|RCV000731349; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN51720219472601404726014019:g.47260140T>CClinGen:CA406497356C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly)79147FKRPUncertain significancers1555739297RCV000530214|RCV001834760; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472601434726014319:g.47260143A>GClinGen:CA406497363C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)79147FKRPUncertain significancers369666163RCV000547216|RCV000596182|RCV001834761|RCV002395327|RCV002497081; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN230736|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C315019472601464726014619:g.47260146A>TClinGen:CA9532321CN169374 not specified;
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg)79147FKRPUncertain significancers1555739321RCV000671771|RCV000996950|RCV001222193; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:89919472601734726017319:g.47260173T>G-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1475del (p.Thr492fs)79147FKRPLikely pathogenicrs1555739333RCV000672588; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472601824726018219:g.47260182_47260182del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg)79147FKRPUncertain significancers763299165RCV001325619|RCV001831007; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:3451519472601844726018447260184-
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)79147FKRPUncertain significancers373244438RCV001313163|RCV002493635|RCV002395667|RCV003145551; NMONDO: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,Orp19472601894726018947260189-
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)79147FKRPPathogenic/Likely pathogenicrs104894682RCV000004444|RCV000471321|RCV000501528|RCV000725596|RCV002222339; NMONDO: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|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600, Orphanet:19472601934726019319:g.47260193T>AClinGen:CA116704,OMIM:606596.0006C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
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