MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Muscular Dystrophies, Limb-Girdle (D049288)
..Starting node
..expand
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:34515194724932847249328GA19:g.47249328G>AClinGen:CA658799254C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.-34C>T79147FKRPBenignrs3201779RCV000082170|RCV001527241|RCV001527240|RCV001527274; NMedGen: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:34515194725867447258674CT19: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:34515194725871147258711CT19:g.47258711C>T-
NM_024301.5(FKRP):c.9C>T (p.Leu3=)79147FKRPLikely benignrs756295058RCV000886744|RCV001563826|RCV001563827|RCV001563825; 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,Orp194725871647258716CT19:g.47258716C>T-
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)79147FKRPUncertain significancers771333733RCV000382342|RCV000466132|RCV000726517|RCV001273315; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725871847258718CG19: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:34515194725872047258720CTNC_000019.9:g.47258720C>TClinGen:CA16616284C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.32C>T (p.Ala11Val)79147FKRPUncertain significancers760295001RCV001214515|RCV001836157; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725873947258739CT19:g.47258739C>T-
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)79147FKRPUncertain significancers768376273RCV000543616|RCV000786132|RCV001272533; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725874447258744GANC_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; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725876147258761TA19:g.47258761T>AClinGen:CA9532101CN169374 not specified;
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)79147FKRPUncertain significancers201951207RCV000821581|RCV001825661; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725877547258775AG19: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:CN517202194725878447258784GA19: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:34515194725878947258789CGNC_000019.9:g.47258789C>GClinGen:CA16616295CN169374 not specified;
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)79147FKRPUncertain significancers756205019RCV001241408|RCV001828976; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725879047258790AG19: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:34515194725879247258792CT19: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:34515194725881347258813GT19: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:52428194725882647258826GA47258826-
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)79147FKRPUncertain significancers201497063RCV000552107|RCV001829569; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725882947258829GTNC_000019.9:g.47258829G>TClinGen:CA9532114C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)79147FKRPUncertain significancers1555738085RCV000577932|RCV000578007|RCV000578092|RCV000578009; NMONDO: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,H194725883547258835CG19:g.47258835C>GClinGen:CA406494717C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.135C>T (p.Ala45=)79147FKRPBenignrs2287717RCV000082171|RCV000576338|RCV000578086|RCV001272534|RCV001527275|RCV001521584|RCV001527276; NMedGen: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:0011688,194725884247258842CT19: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:34515194725885847258858GA19:g.47258858G>AClinGen:CA9532117CN169374 not specified;
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)79147FKRPPathogenicrs1290836394RCV000559625|RCV001834762; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725886247258863TTGGTGCNC_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:34515194725886747258867CT19: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:899194725886747258868CCGGGANC_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:34515194725887447258875TTCGAGGCATTTGACAACG19:g.47258874_47258875insCGAGGCATTTGACAACG-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
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:34515194725887647258876GA19: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:34515194725887947258879GA19: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:34515194725888547258885GT19: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:34515194725889247258892CTNC_000019.9:g.47258892C>T-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.192C>T (p.Pro64=)79147FKRPBenignrs111754012RCV000117037|RCV000227021|RCV000576519|RCV001272536|RCV001811960; NMedGen: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:613153,194725889947258899CT19:g.47258899C>TClinGen:CA288847C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
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:34515194725891147258913ACTCA19:g.47258911_47258913del-
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)79147FKRPUncertain significancers990847012RCV001295759|RCV001830129; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725891247258912TC47258912-
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)79147FKRPLikely pathogenicrs1555738201RCV000671226; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725892147258921CT19: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:34515194725892847258929AACCCAG19:g.47258928_47258929insCCCAG-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)79147FKRPLikely pathogenic-1RCV001379447|RCV001826153; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725893647258936CT47258936-
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:34515194725893947258939CTNC_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; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725894247258942GANC_000019.9:g.47258942G>AOMIM:606596.0012,ClinGen:CA116716,UniProtKB:Q9H9S5#VAR_065055C1847759 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:34515194725894247258944CGTGC47258941-
NM_024301.5(FKRP):c.249C>T (p.Ala83=)79147FKRPBenignrs149030303RCV000082174|RCV000233707|RCV001272537|RCV001725965; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725895647258956CT19:g.47258956C>TClinGen:CA149246CN169374 not specified;
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)79147FKRPPathogenic/Likely pathogenicrs770711331RCV000665956|RCV000700227|RCV001784236; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202194725897347258973CT19: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:34515194725897447258974GAT19:g.47258974_47258975insT-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)79147FKRPUncertain significancers1220815256RCV000669620; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725898147258982GGCCCTGC19: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-1RCV001563828|RCV001563918|RCV001563919|RCV002072148; NMONDO: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,Orp194725898947258989CT47258989-
NM_024301.5(FKRP):c.295G>A (p.Val99Met)79147FKRPUncertain significancers776733780RCV000531133|RCV001834763; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725900247259002GANC_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:34515194725900547259005CT19: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:34515194725900647259006GA19:g.47259006G>A-
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)79147FKRPUncertain significancers1473327480RCV001347810|RCV001831135; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725901247259012CA47259012-
NM_024301.5(FKRP):c.315G>T (p.Gln105His)79147FKRPUncertain significancers765444642RCV001231603|RCV001828848; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725902247259022GT19:g.47259022G>T-
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)79147FKRPUncertain significancers1164727838RCV000809005|RCV001772089|RCV001825610; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725902347259023CT19:g.47259023C>T-
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)79147FKRPUncertain significancers750679682RCV000369694|RCV001835769|RCV001327233; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725902647259026GT19:g.47259026G>TClinGen:CA9532142CN169374 not specified;
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)79147FKRPUncertain significancers936866997RCV001063677|RCV001336095|RCV001275309; NMONDO: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:34515194725903047259030TC19:g.47259030T>C-
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)79147FKRPUncertain significancers758759348RCV000459145|RCV000765451|RCV000991999|RCV001272539; 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,Orp194725903547259035CT19: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|RCV001563823|RCV001563824; NMedGen: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,M194725904847259048CG19: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:34515194725905147259055TCGCGCT19:g.47259051_47259055del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)79147FKRPUncertain significancers1060502106RCV000456630|RCV001275310; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725908647259086GANC_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:34515194725909247259093GGTACCNC_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; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725910147259101GC19:g.47259101G>C-
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)79147FKRPUncertain significancers755588907RCV001279353; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725910247259102GC19:g.47259102G>C-
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)79147FKRPUncertain significancers104894690RCV000004452; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725910747259107CT19: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; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725911147259111CA19: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; 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,Human194725913447259134CA19:g.47259134C>AClinGen:CA180039,UniProtKB:Q9H9S5#VAR_018282C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
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:34515194725914947259149CA19: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:34515194725915347259153GA19:g.47259153G>AClinGen:CA406495346C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.464del (p.Leu155fs)79147FKRPLikely pathogenicrs1555738456RCV000671874; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725917147259171CTC19: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; NMedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725919047259190CTNC_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:34515194725919847259198AG19:g.47259198A>G-
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)79147FKRPUncertain significancers1555738483RCV000673672; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725920947259209TC19: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:899194725921047259210GA47259210-
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)79147FKRPUncertain significancers1322879846RCV000711663|RCV001272540|RCV000809832; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725922447259224GANC_000019.9:g.47259224G>A-
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)79147FKRPUncertain significancers1318966349RCV000734707|RCV001239053|RCV001825484; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725923147259231TCNC_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:899194725923347259233CT19:g.47259233C>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)79147FKRPUncertain significancers755316345RCV001297833|RCV001830145; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725923447259234GA47259234-
NM_024301.5(FKRP):c.531G>A (p.Glu177=)79147FKRPConflicting interpretations of pathogenicityrs768007208RCV000725725|RCV001081894|RCV001828220; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725923847259238GA19:g.47259238G>AClinGen:CA9532159CN169374 not specified;
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)79147FKRPUncertain significancers777245868RCV000634057|RCV001275313|RCV001591411; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725924847259248CANC_000019.9:g.47259248C>AClinGen:CA9532162C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.544T>C (p.Tyr182His)79147FKRPConflicting interpretations of pathogenicityrs753390261RCV000324567|RCV000673996|RCV001859617; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725925147259251TC19:g.47259251T>CClinGen:CA9532163C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)79147FKRPPathogenic/Likely pathogenicrs543163491RCV000336106|RCV000763055|RCV000810074|RCV000984175; NMedGen: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,O194725925247259252AGNC_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:34515194725925247259252AC19:g.47259252A>C-
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)79147FKRPUncertain significancers1489408026RCV000796018|RCV001272541; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725925847259258CT19:g.47259258C>T-
NM_024301.5(FKRP):c.558dup (p.Ala187fs)79147FKRPLikely pathogenicrs1191737604RCV000668168; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725926047259261GGC19:g.47259260_47259261insC-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.554C>T (p.Ala185Val)79147FKRPUncertain significancers1032563159RCV000634050|RCV001829782; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725926147259261CT19: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:34515194725926347259264CCCCG19: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:34515194725926447259264CT19:g.47259264C>TClinGen:CA10605068CN169374 not specified;
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:34515194725926847259268CG19:g.47259268C>G-
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)79147FKRPUncertain significancers746905689RCV000634060|RCV000711664|RCV001272543; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725926947259269GA19: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:34515194725926947259270GGCGCCC19: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; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725927047259270CTNC_000019.9:g.47259270C>TClinGen:CA9532170CN169374 not specified;
NM_024301.5(FKRP):c.567C>T (p.Pro189=)79147FKRPConflicting interpretations of pathogenicityrs201454433RCV000254084|RCV000725158|RCV001085023|RCV001828147; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725927447259274CT19:g.47259274C>TClinGen:CA9532171CN169374 not specified;
NM_024301.5(FKRP):c.569G>A (p.Arg190His)79147FKRPUncertain significancers917645867RCV001202297|RCV001751372|RCV001828625; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725927647259276GA19:g.47259276G>A-
NM_024301.5(FKRP):c.582G>A (p.Leu194=)79147FKRPConflicting interpretations of pathogenicityrs771223960RCV000228492|RCV000669233; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725928947259289GA19: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; 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:52428|MONDO:MONDO:0000171,MedGen:C0265221,O194725929247259292CT19: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)79147FKRPUncertain significancers759875552RCV000178354|RCV000548844|RCV000674993; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725929347259293GA19: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; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725929347259293GC19:g.47259293G>CClinGen:CA9532174C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.606G>A (p.Leu202=)79147FKRPConflicting interpretations of pathogenicityrs140084192RCV000082180|RCV000723553|RCV001088477|RCV001831885; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725931347259313GA19:g.47259313G>AClinGen:CA223743CN169374 not specified;
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)79147FKRPUncertain significancers753297636RCV000283493|RCV000820298|RCV001275314; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725932047259320CGNC_000019.9:g.47259320C>GClinGen:CA9532178CN169374 not specified;
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)79147FKRPUncertain significancers778472624RCV000519238|RCV000697869|RCV001273517; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725933547259335CG19: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:34515194725933947259339CT19:g.47259339C>TClinGen:CA9532181CN169374 not specified;
NM_024301.5(FKRP):c.633G>A (p.Ser211=)79147FKRPUncertain significancers921883036RCV001226232|RCV001828806; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725934047259340GA19:g.47259340G>A-
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:899194725936147259361TGT19:g.47259361_47259361del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)79147FKRPUncertain significancers878855080RCV000234060|RCV000670321; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725936247259362GANC_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:899194725938247259382AGA19: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:34515194725938447259384CA19:g.47259384C>A-
NM_024301.5(FKRP):c.688_722del (p.Gly230fs)79147FKRPLikely pathogenicrs1555738675RCV000674998; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725938847259422CCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGAC19: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:899194725939347259393CGC19: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:899194725940347259403GT19:g.47259403G>TClinGen:CA223745C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)79147FKRPUncertain significancers754347622RCV000692322|RCV001830508; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725941347259413CGNC_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:899194725941547259415GA19: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:34515194725943247259432CT19:g.47259432C>T-
NM_024301.5(FKRP):c.731G>A (p.Arg244His)79147FKRPConflicting interpretations of pathogenicityrs764641619RCV000331999|RCV000457561|RCV000664793|RCV000725201; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725943847259438GA19: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; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725944747259447CA19:g.47259447C>AClinGen:CA234005CN169374 not specified;
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)79147FKRPUncertain significancers757955092RCV001208376|RCV001833831; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725945247259452GA19:g.47259452G>A-
NM_024301.5(FKRP):c.750G>A (p.Thr250=)79147FKRPLikely benignrs1390038437RCV000698746|RCV001275316; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725945747259457GA19:g.47259457G>A-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)79147FKRPUncertain significancers959679901RCV000549762|RCV001834765; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725946447259464GTNC_000019.9:g.47259464G>TClinGen:CA309099464C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)79147FKRPPathogenicrs104894689RCV000004451; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725947147259471GA19:g.47259471G>AClinGen:CA116718,OMIM:606596.0013C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.777C>T (p.Arg259=)79147FKRPUncertain significancers766086486RCV001240877|RCV001828961; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725948447259484CT19:g.47259484C>T-
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)79147FKRPPathogenic/Likely pathogenicrs1555738753RCV000669672|RCV001855524; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725948547259485GT19: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:34515194725948747259487GC19:g.47259487G>C-
NM_024301.5(FKRP):c.796del (p.Ala266fs)79147FKRPLikely pathogenicrs1555738764RCV000672793; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725950147259501CGC19:g.47259501_47259501del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)79147FKRPUncertain significancers1320991574RCV001053933|RCV001827338; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725950147259501GT19: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:34515194725950447259504CT47259504-
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:34515194725951647259516GA47259516-
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)79147FKRPConflicting interpretations of pathogenicityrs77138370RCV000117039|RCV000711666|RCV001086481|RCV001836732; NMedGen: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:C3150194725952947259529CG19:g.47259529C>GClinGen:CA152821CN169374 not specified;
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:899194725953047259530CTNC_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|RCV000612115|RCV000660622|RCV000503787|RCV000515332|RCV000626960|RCV001197775|RCV001329320|RCV001526640; NMONDO: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,Orp194725953347259533CANC_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.849G>A (p.Arg283=)79147FKRPLikely benignrs2054920441RCV001279355|RCV002069458; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725955647259556GA19:g.47259556G>A-
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)79147FKRPUncertain significancers1435780847RCV000702546|RCV001825385; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725955847259558TCNC_000019.9:g.47259558T>C-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)79147FKRPUncertain significance-1RCV001563923|RCV001563925|RCV001563924|RCV001882663; NMONDO: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,Orp194725956147259561AC47259561-
NM_024301.5(FKRP):c.859_869del (p.Phe287fs)79147FKRPLikely pathogenicrs1555738823RCV000669569; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725956647259576GTTCGGCTGCAAG19: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; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN169374194725959247259592CT19:g.47259592C>TClinGen:CA9532206CN169374 not specified;
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)79147FKRPUncertain significancers921829148RCV001325181|RCV001830367; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725960047259600GC47259600-
NM_024301.5(FKRP):c.898G>A (p.Val300Met)79147FKRPConflicting interpretations of pathogenicityrs563033008RCV000226616|RCV000398763|RCV000672226|RCV000765453|RCV000726141|RCV001731540; NMONDO: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,O194725960547259605GANC_000019.9:g.47259605G>AUniProtKB:Q9H9S5#VAR_065061,ClinGen:CA9532207C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)79147FKRPPathogenic/Likely pathogenicrs104894691RCV000004453|RCV000732974|RCV000814162|RCV001813735; 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:899194725960647259606TCNC_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.919T>A (p.Tyr307Asn)79147FKRPPathogenic/Likely pathogenicrs104894692RCV000004455|RCV000004454|RCV000494504|RCV000805125|RCV000844942; NMONDO: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|194725962647259626TANC_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; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725963547259635GT19:g.47259635G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)79147FKRPLikely pathogenicrs1483781400RCV000665682; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725963847259638GT19: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:899194725964847259648CTNC_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|RCV001830816|RCV001784454; NMONDO: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:CN517202194725965047259650GCG19:g.47259650_47259650del-
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)79147FKRPUncertain significancers28937901RCV000004445|RCV000675047; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725965347259653CA19: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)79147FKRPUncertain significancers28937901RCV000178358|RCV000670956; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725965347259653CT19: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)79147FKRPUncertain significancers28937901RCV001327126|RCV001831029; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725965347259653CG47259653-
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)79147FKRPLikely pathogenicrs1555738883RCV000674174; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725966447259665TGCT19: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:34515194725966447259674TGCGCGCGCTGCT19:g.47259664_47259674del-
NM_024301.5(FKRP):c.968G>A (p.Arg323His)79147FKRPUncertain significancers1349031936RCV000634072|RCV001171504|RCV000662004|RCV000662005; 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,Orpha194725967547259675GA19: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|RCV000726333|RCV000461986; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725967747259677GT19: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:34515194725967747259677GC47259677-
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)79147FKRPUncertain significancers1365712686RCV000823403|RCV001830821; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725967947259679GC19:g.47259679G>C-
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)79147FKRPUncertain significancers1201873802RCV000799009|RCV001273519|RCV001772057; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725968347259683GA19:g.47259683G>A-
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)79147FKRPUncertain significancers867877678RCV000489405|RCV001835825; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725968647259686CG19: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:34515194725968947259691CTATC19:g.47259689_47259691delClinGen:CA10605545CN169374 not specified;
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)79147FKRPUncertain significancers1599938256RCV000991997|RCV001858744|RCV001836057; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725970647259707GGGAGGCTGCGGGCGTGCGC19:g.47259706_47259707insGAGGCTGCGGGCGTGCGC-
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)79147FKRPUncertain significancers776947530RCV000306773|RCV000797226|RCV001833326; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725971047259710GANC_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:899194725971947259719GT19:g.47259719G>T-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1016G>A (p.Arg339His)79147FKRPUncertain significancers1450841129RCV000674783|RCV000735132; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725972347259723GA19: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:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp194725972647259726AT19:g.47259726A>TClinGen:CA406496482C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)79147FKRPLikely pathogenicrs587780334RCV000668106|RCV001554930; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725973447259734GT19: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:34515194725974347259743TC19: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:34515194725975847259758GA47259758-
NM_024301.5(FKRP):c.1056C>T (p.Arg352=)79147FKRPLikely benignrs886038682RCV000248317|RCV000668941; NMedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725976347259763CT19: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:34515194725978547259785GC19:g.47259785G>C-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)79147FKRPUncertain significancers1184684815RCV001340070|RCV001830417; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725982447259824GA47259824-
NM_024301.5(FKRP):c.1119del (p.Asn374fs)79147FKRPLikely pathogenicrs1555739041RCV000674304; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725982647259826GCG19: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; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194725982647259826CA19:g.47259826C>A-
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)79147FKRPUncertain significance-1RCV001527407; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725983747259837AG47259837-
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)79147FKRPPathogenic/Likely pathogenicrs754403441RCV000672422|RCV000688076; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725984247259843CCG19: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; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725984347259843GANC_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:34515194725984347259843GC19: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:34515194725984647259846GA19: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:899194725987447259875AGCA19: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:899194725987447259874GA19:g.47259874G>A-
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)79147FKRPConflicting interpretations of pathogenicityrs140679502RCV000192864|RCV000456138|RCV001093246|RCV001275320; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725988447259884GANC_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:34515194725989747259897CTNC_000019.9:g.47259897C>TClinGen:CA9532272CN169374 not specified;
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)79147FKRPUncertain significancers1471167981RCV001348079|RCV001831138; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725989947259899GA47259899-
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)79147FKRPUncertain significancers1230638385RCV001241623|RCV001288179|RCV001828983; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725990247259902GA19:g.47259902G>A-
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn)79147FKRPUncertain significancers1555739117RCV000665981|RCV001855450; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725990847259908GA19: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:34515194725991147259911CTC19: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; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725994347259943CTNC_000019.9:g.47259943C>T-
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)79147FKRPUncertain significancers769568971RCV000634052|RCV000726824|RCV001275321|RCV001197776; 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:52428194725997747259977AC19:g.47259977A>CClinGen:CA9532287CN169374 not specified;
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)79147FKRPUncertain significancers376989573RCV001233600|RCV001828860; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725997847259978AG19: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:34515194725999847259998AGNC_000019.9:g.47259998A>GClinGen:CA16616308C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)79147FKRPUncertain significancers144236975RCV000332543|RCV000634055|RCV001833320; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726001347260013CT19: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:34515194726001447260014GA47260014-
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)79147FKRPPathogenic/Likely pathogenicrs104894681RCV000004441|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:C4284790,194726005047260050CT19: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.1363G>T (p.Ala455Ser)79147FKRPUncertain significancers747785577RCV000700840|RCV001825376; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726007047260070GT19: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:CN517202194726007147260071CA19: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:34515194726007147260071CT19:g.47260071C>T-
NM_024301.5(FKRP):c.1368C>T (p.Gly456=)79147FKRPLikely benignrs1599940206RCV000905675|RCV001275322|RCV001479556; NMedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194726007547260075CT19:g.47260075C>T-
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)79147FKRPUncertain significancers749109905RCV000178356|RCV001215498|RCV001832022; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726008347260083CT19:g.47260083C>TClinGen:CA245430CN169374 not specified;
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)79147FKRPLikely pathogenicrs768606230RCV000671396|RCV001573804; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MedGen:CN517202194726009147260091CT19: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; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726010447260104GA19:g.47260104G>A-C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)79147FKRPConflicting interpretations of pathogenicityrs143129484RCV000727355|RCV001083062|RCV001273522; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726011247260112CT19:g.47260112C>TClinGen:CA9532315CN169374 not specified;
NM_024301.5(FKRP):c.1407G>A (p.Leu469=)79147FKRPUncertain significancers1351635868RCV001323945|RCV001830983; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726011447260114GA47260114-
NM_024301.5(FKRP):c.1415del (p.Lys472fs)79147FKRPUncertain significancers1555739280RCV000671966; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726012147260121CAC19:g.47260121_47260121del-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys)79147FKRPUncertain significancers752243337RCV000664689; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726012547260125TG19:g.47260125T>G-C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)79147FKRPUncertain significancers375326964RCV001205826|RCV001574262|RCV001833808; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726013447260134GA19: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:34515194726013647260136GA19: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:CN517202194726014047260140TC19: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:34515194726014347260143AG19:g.47260143A>GClinGen:CA406497363C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)79147FKRPUncertain significancers369666163RCV000596182|RCV000547216|RCV001834761; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194726014647260146AT19: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:899194726017347260173TG19: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:34515194726018247260182ACA19: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:34515194726018447260184GA47260184-
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)79147FKRPPathogenic/Likely pathogenicrs104894682RCV000004444|RCV000471321|RCV000501528|RCV000725596; 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:CN517202194726019347260193TA19:g.47260193T>AClinGen:CA116704,OMIM:606596.0006C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
MSeqDR Portal