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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Muscular Dystrophies, Limb-Girdle (D049288)
..Starting node ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Child Nodes:
Sister Nodes:
..Beta-sarcoglycanopathy (C535435)
..CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE (OMIM:616812)
..Dysferlinopathy (C537995)
..Epidermolysa bullosa simplex and limb girdle muscular dystrophy (C535955)
..Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..Limb-girdle muscular dystrophy autosomal recessive (C538640)
..Limb-girdle muscular dystrophy type 2A (C535895)
..Limb-girdle muscular dystrophy type 2H (C535897)
..Limb-girdle muscular dystrophy, type 1B (C535898)
..Limb-Girdle Muscular Dystrophy, Type 1G (C563794)
..Limb-girdle muscular dystrophy, type 2B (C535899)
..MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE (OMIM:616827)
..MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
..MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..Muscular Dystrophy, Hemizygous Lethal Type (C564097)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 (OMIM:615356)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
..Muscular dystrophy, limb-girdle, type 1A (C535906)
..Muscular Dystrophy, Limb-Girdle, Type 1C (C563362)
..Muscular Dystrophy, Limb-Girdle, Type 1D (C566370)
..Muscular Dystrophy, Limb-Girdle, Type 1E (C566589)
..Muscular Dystrophy, Limb-Girdle, Type 1F (C564242)
..MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H (OMIM:613530)
..Muscular Dystrophy, Limb-Girdle, Type 2G (C566599)
..Muscular Dystrophy, Limb-Girdle, Type 2I (C564612)
..Muscular Dystrophy, Limb-Girdle, Type 2J (C563854)
..Muscular Dystrophy, Limb-Girdle, Type 2L (C566968)
..Muscular Dystrophy, Limb-Girdle, Type 2M (C566912)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 (OMIM:609308)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 (OMIM:615352)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 (OMIM:613157)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
..MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
..Myopathy, limb-girdle, with bone fragility (C536104)
..Sarcoglycanopathies (D058088) 3
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:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 607155
MeSH: 607155
OMIM: 607155;
MSeqDR :
Genes: FKRP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001771	Achilles tendon contracture
3	HP:0008981	Calf muscle hypertrophy
4	HP:0003741	Congenital muscular dystrophy
5	HP:0003551	Difficulty climbing stairs
6	HP:0002355	Difficulty walking
7	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
8	HP:0003236	Elevated serum creatine phosphokinase
9	HP:0008305	Exercise-induced myoglobinuria	HP:0040284
10	HP:0002359	Frequent falls
11	HP:0003307	Hyperlordosis
12	HP:0002808	Kyphosis
13	HP:0005162	Left ventricular failure
14	HP:0000158	Macroglossia
15	HP:0003394	Muscle cramps
16	HP:0003326	Myalgia
17	HP:0002877	Nocturnal hypoventilation
18	HP:0003749	Pelvic girdle muscle weakness
19	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
20	HP:0002111	Restrictive deficit on pulmonary function testing
21	HP:0002650	Scoliosis
22	HP:0003547	Shoulder girdle muscle weakness
23	HP:0003733	Thigh hypertrophy
24	HP:0040083	Toe walking
25	HP:0003828	Variable expressivity
26	HP:0002948	Vertebral fusion
27	HP:0002515	Waddling gait

Disease Causing ClinVar Variants

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

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