Fkrp Variant Search Result - Rat Genome Database

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1001 records found for search term Fkrp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155740577	CV1809477	single nucleotide variant	NM_024301.5(FKRP):c.-4C>T	Cardiovascular phenotype [RCV002343047]	uncertain significance	19	46755447	46755447	Human		name
13540311	CV506894	single nucleotide variant	NM_024301.5(FKRP):c.-2C>A	Cardiovascular phenotype [RCV002438557]\|not provided [RCV004817818]	likely benign\|uncertain significance	19	46755449	46755449	Human		name
8643016	CV101998	single nucleotide variant	NM_024301.5(FKRP):c.-34C>T	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001527274]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001527240]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001527241]\|not provided [RCV004716936]\|not specified [RCV000082170]	likely pathogenic\|benign	19	46755417	46755417	Human	3	name
13536281	CV507867	single nucleotide variant	NM_024301.5(FKRP):c.-30G>A	not specified [RCV000608775]	likely benign	19	46755421	46755421	Human		name
13834761	CV586010	single nucleotide variant	NM_024301.5(FKRP):c.*10A>G	not provided [RCV000730356]	uncertain significance	19	46756948	46756948	Human		name
405268230	CV3200953	single nucleotide variant	NM_024301.5(FKRP):c.-270C>T	FKRP-related disorder [RCV004531816]	likely benign	19	46746073	46746073	Human		name , trait , alternate_id
12837183	CV377576	single nucleotide variant	NM_024301.5(FKRP):c.-195A>G	not specified [RCV000424725]	likely benign	19	46748084	46748084	Human		name
13540939	CV506892	single nucleotide variant	NM_024301.5(FKRP):c.-246A>G	not provided [RCV001712637]	likely benign	19	46748033	46748033	Human		name
13532130	CV507866	single nucleotide variant	NM_024301.5(FKRP):c.-197C>T	not specified [RCV000606703]	likely benign	19	46748082	46748082	Human		name
13528586	CV513477	single nucleotide variant	NM_024301.5(FKRP):c.-272G>A	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000626047]\|not provided [RCV004791634]	pathogenic\|uncertain significance	19	46746071	46746071	Human	1	name
14739941	CV656581	single nucleotide variant	NM_024301.5(FKRP):c.-206G>T	not provided [RCV000840120]	likely benign	19	46748073	46748073	Human		name
8691125	CV141084	single nucleotide variant	NM_024301.5(FKRP):c.-40+8C>G	not provided [RCV004717011]\|not specified [RCV000125116]	benign	19	46748673	46748673	Human	1	name
8691125	CV141084	single nucleotide variant	NM_024301.5(FKRP):c.-40+8C>G	not provided [RCV004717011]\|not specified [RCV000125116]	benign	19	46748673	46748674	Human	1	name
126743292	CV1018610	single nucleotide variant	NM_024301.5(FKRP):c.-253+4A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001330167]\|not provided [RCV004692528]	uncertain significance	19	46746094	46746094	Human	1	name
150424865	CV1185502	single nucleotide variant	NM_024301.5(FKRP):c.-40+86G>C	not provided [RCV001557230]	likely benign	19	46748751	46748751	Human		name
408386573	CV3522590	single nucleotide variant	NM_024301.5(FKRP):c.-253+5G>A	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV005409987]\|not provided [RCV004767950]	uncertain significance	19	46746095	46746095	Human	4	name
12835467	CV376608	single nucleotide variant	NM_024301.5(FKRP):c.-39-16C>T	not specified [RCV000421718]	likely benign	19	46755396	46755396	Human		name
12845179	CV376615	single nucleotide variant	NM_024301.5(FKRP):c.-39-15G>A	not specified [RCV000439337]	likely benign	19	46755397	46755397	Human		name
13527433	CV506885	single nucleotide variant	NM_024301.5(FKRP):c.-253+9G>A	FKRP-related disorder [RCV004735663]\|not provided [RCV001722654]	likely benign	19	46746099	46746099	Human		name , alternate_id
150423347	CV1185503	duplication	NM_024301.5(FKRP):c.-39-205dup	not provided [RCV001555193]	likely benign	19	46755190	46755191	Human		name
150451326	CV1261531	single nucleotide variant	NM_024301.5(FKRP):c.-190-93C>T	not provided [RCV001680733]	benign	19	46748422	46748422	Human		name
150515794	CV1285660	deletion	NM_024301.5(FKRP):c.-39-205del	not provided [RCV001723113]	benign	19	46755191	46755191	Human		name
12842987	CV377563	single nucleotide variant	NM_024301.5(FKRP):c.-253+14G>A	not specified [RCV000435408]	likely benign	19	46746104	46746104	Human		name
12899755	CV410637	microsatellite	NM_024301.5(FKRP):c.-272GGC[8]	not specified [RCV000480889]	likely benign	19	46746070	46746071	Human		name
12898922	CV410638	deletion	NM_024301.5(FKRP):c.-52_-50del	not specified [RCV000479005]	likely benign	19	46748651	46748653	Human		name
13536053	CV507070	microsatellite	NM_024301.5(FKRP):c.-272GGC[3]	not specified [RCV000608448]	likely benign	19	46746071	46746076	Human		name
14735312	CV669936	single nucleotide variant	NM_024301.5(FKRP):c.-39-243A>G	not provided [RCV000837949]	likely benign	19	46755169	46755169	Human		name
153000109	CV1683612	single nucleotide variant	NM_024301.5(FKRP):c.-252-125G>A	not provided [RCV002254067]	likely benign	19	46747902	46747902	Human		name
329953967	CV2669309	single nucleotide variant	NM_024301.5(FKRP):c.-253+331C>A	not provided [RCV003231816]	uncertain significance	19	46746421	46746421	Human		name
127293653	CV1127971	single nucleotide variant	NM_024301.5(FKRP):c.9C>G (p.Leu3=)	Walker-Warburg congenital muscular dystrophy [RCV001476638]	likely benign	19	46755459	46755459	Human	1	name
156123682	CV2175112	single nucleotide variant	NM_024301.5(FKRP):c.4C>A (p.Arg2=)	Walker-Warburg congenital muscular dystrophy [RCV003055566]	likely benign	19	46755454	46755454	Human	1	name
13526651	CV507077	microsatellite	NM_024301.5(FKRP):c.-253+5GGCCG[5]	not provided [RCV001704824]	benign	19	46746094	46746095	Human		name
15185615	CV728286	single nucleotide variant	NM_024301.5(FKRP):c.9C>T (p.Leu3=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001563827]\|Cardiovascular phenotype [RCV002382036]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001563825]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001563826]\|Walker-Warburg congen ... (more) ital muscular dystrophy [RCV000886744]	likely benign	19	46755459	46755459	Human	4	name
127325130	CV1148942	single nucleotide variant	NM_024301.5(FKRP):c.15C>A (p.Arg5=)	Cardiovascular phenotype [RCV004995890]\|Walker-Warburg congenital muscular dystrophy [RCV001485703]	likely benign	19	46755465	46755465	Human	1	name
405142976	CV2988351	single nucleotide variant	NM_024301.5(FKRP):c.27C>T (p.Ala9=)	Walker-Warburg congenital muscular dystrophy [RCV003755519]	likely benign	19	46755477	46755477	Human	1	name
12885055	CV403756	deletion	NM_024301.5(FKRP):c.-39-2934_564del	Walker-Warburg congenital muscular dystrophy [RCV000464629]	pathogenic	19	46752478	46756014	Human	1	name
15146767	CV689105	single nucleotide variant	NM_024301.5(FKRP):c.18C>T (p.Cys6=)	Cardiovascular phenotype [RCV003169128]\|Walker-Warburg congenital muscular dystrophy [RCV001478071]	likely benign	19	46755468	46755468	Human	1	name
127247915	CV1064730	single nucleotide variant	NM_024301.5(FKRP):c.1A>C (p.Met1Leu)	Walker-Warburg congenital muscular dystrophy [RCV001384814]	pathogenic	19	46755451	46755451	Human	1	name
127273972	CV1106600	single nucleotide variant	NM_024301.5(FKRP):c.69T>C (p.Tyr23=)	Cardiovascular phenotype [RCV004995818]\|Walker-Warburg congenital muscular dystrophy [RCV001442765]	likely benign	19	46755519	46755519	Human	1	name
8591066	CV125788	single nucleotide variant	NM_024301.5(FKRP):c.1A>G (p.Met1Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV000106303]\|not provided [RCV000323348]	pathogenic	19	46755451	46755451	Human	1	name
151860169	CV1337574	single nucleotide variant	NM_024301.5(FKRP):c.57G>A (p.Leu19=)	Walker-Warburg congenital muscular dystrophy [RCV001923897]	likely benign\|uncertain significance	19	46755507	46755507	Human	1	name
152110500	CV1519531	single nucleotide variant	NM_024301.5(FKRP):c.75G>T (p.Ser25=)	Walker-Warburg congenital muscular dystrophy [RCV002152989]	likely benign	19	46755525	46755525	Human	1	name
152059591	CV1559063	single nucleotide variant	NM_024301.5(FKRP):c.79C>T (p.Leu27=)	Walker-Warburg congenital muscular dystrophy [RCV002167838]	likely benign	19	46755529	46755529	Human	1	name
152155035	CV1579577	single nucleotide variant	NM_024301.5(FKRP):c.48C>T (p.Leu16=)	Walker-Warburg congenital muscular dystrophy [RCV002158737]	likely benign	19	46755498	46755498	Human	1	name
152073416	CV1633292	single nucleotide variant	NM_024301.5(FKRP):c.60C>G (p.Val20=)	Walker-Warburg congenital muscular dystrophy [RCV002129895]	likely benign	19	46755510	46755510	Human	1	name
152110629	CV1650993	single nucleotide variant	NM_024301.5(FKRP):c.60C>T (p.Val20=)	Walker-Warburg congenital muscular dystrophy [RCV002134436]	likely benign	19	46755510	46755510	Human	1	name
156398770	CV1881160	single nucleotide variant	NM_024301.5(FKRP):c.5G>A (p.Arg2Gln)	Walker-Warburg congenital muscular dystrophy [RCV003068924]	uncertain significance	19	46755455	46755455	Human	1	name
10045144	CV188909	single nucleotide variant	NM_024301.5(FKRP):c.33G>C (p.Ala11=)	not specified [RCV000171285]	likely pathogenic\|likely benign	19	46755483	46755483	Human		name
155984617	CV2136795	single nucleotide variant	NM_024301.5(FKRP):c.45C>T (p.Thr15=)	Walker-Warburg congenital muscular dystrophy [RCV002996270]	likely benign	19	46755495	46755495	Human	1	name
329372027	CV2423648	single nucleotide variant	NM_024301.5(FKRP):c.45C>G (p.Thr15=)	Cardiovascular phenotype [RCV003172572]\|Walker-Warburg congenital muscular dystrophy [RCV005101128]	likely benign	19	46755495	46755495	Human	1	name
11639438	CV273207	single nucleotide variant	NM_024301.5(FKRP):c.54T>A (p.Leu18=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828260]\|Cardiovascular phenotype [RCV002348018]\|FKRP-related disorder [RCV004535418]\|Walker-Warburg congenital muscular dystrophy [RCV001085217]\|not provided [RCV000319756]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46755504	46755504	Human	2	name , alternate_id
405143793	CV2994414	single nucleotide variant	NM_024301.5(FKRP):c.60C>A (p.Val20=)	Walker-Warburg congenital muscular dystrophy [RCV003755600]	likely benign	19	46755510	46755510	Human	1	name
405145780	CV3003813	single nucleotide variant	NM_024301.5(FKRP):c.75G>C (p.Ser25=)	Walker-Warburg congenital muscular dystrophy [RCV003755718]	likely benign	19	46755525	46755525	Human	1	name
597732748	CV3666301	single nucleotide variant	NM_024301.5(FKRP):c.63C>G (p.Leu21=)	Cardiovascular phenotype [RCV004996878]	likely benign	19	46755513	46755513	Human		name
597732758	CV3666303	single nucleotide variant	NM_024301.5(FKRP):c.93T>C (p.Pro31=)	Cardiovascular phenotype [RCV004996880]	likely benign	19	46755543	46755543	Human		name
597751312	CV3705753	single nucleotide variant	NM_024301.5(FKRP):c.2T>C (p.Met1Thr)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005015848]	likely pathogenic	19	46755452	46755452	Human	1	name
597867115	CV3802316	single nucleotide variant	NM_024301.5(FKRP):c.90G>A (p.Gln30=)	Walker-Warburg congenital muscular dystrophy [RCV005141913]	likely benign	19	46755540	46755540	Human	1	name
597918673	CV3841495	single nucleotide variant	NM_024301.5(FKRP):c.63C>T (p.Leu21=)	Walker-Warburg congenital muscular dystrophy [RCV005193599]	likely benign	19	46755513	46755513	Human	1	name
598200977	CV3976811	single nucleotide variant	NM_024301.5(FKRP):c.7C>G (p.Leu3Val)	Cardiovascular phenotype [RCV005336750]	uncertain significance	19	46755457	46755457	Human		name
13497488	CV468898	single nucleotide variant	NM_024301.5(FKRP):c.5G>T (p.Arg2Leu)	Walker-Warburg congenital muscular dystrophy [RCV000524840]	uncertain significance	19	46755455	46755455	Human	1	name
13538436	CV507452	single nucleotide variant	NM_024301.5(FKRP):c.66C>T (p.Phe22=)	Walker-Warburg congenital muscular dystrophy [RCV001428250]\|not specified [RCV000611830]	likely benign	19	46755516	46755516	Human	1	name
14742233	CV648182	single nucleotide variant	NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825665]\|Cardiovascular phenotype [RCV004619436]\|Walker-Warburg congenital muscular dystrophy [RCV000822659]	uncertain significance	19	46755454	46755454	Human	2	name
15153919	CV757138	single nucleotide variant	NM_024301.5(FKRP):c.75G>A (p.Ser25=)	Cardiovascular phenotype [RCV004994118]\|Walker-Warburg congenital muscular dystrophy [RCV000924152]	likely benign	19	46755525	46755525	Human	1	name
8643017	CV101999	single nucleotide variant	NM_024301.5(FKRP):c.135C>T (p.Ala45=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000578086]\|Cardiovascular phenotype [RCV002381405]\|Dystrophin deficiency [RCV001272534]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001527275]\|Muscular dystrophy-dystroglycanopathy type B5 ... (more) [RCV001527276]\|Walker-Warburg congenital muscular dystrophy [RCV001521584]\|not provided [RCV000576338]\|not specified [RCV000082171]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	19	46755585	46755585	Human	4	name
8643019	CV102001	single nucleotide variant	NM_024301.5(FKRP):c.249C>T (p.Ala83=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272537]\|Cardiovascular phenotype [RCV002426645]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002483151]\|Walker-Warburg congenital muscular dystrophy [RCV000233707]\|not provided [RCV00172 ... (more) 5965]\|not specified [RCV000082174]	likely pathogenic\|benign\|likely benign	19	46755699	46755699	Human	5	name
126774950	CV1034356	single nucleotide variant	NM_024301.5(FKRP):c.273G>A (p.Leu91=)	Walker-Warburg congenital muscular dystrophy [RCV001347817]	likely benign\|uncertain significance	19	46755723	46755723	Human	1	name
127281797	CV1084850	single nucleotide variant	NM_024301.5(FKRP):c.240G>C (p.Val80=)	Cardiovascular phenotype [RCV003284308]\|Walker-Warburg congenital muscular dystrophy [RCV001410696]	likely benign	19	46755690	46755690	Human	1	name
127259812	CV1084851	single nucleotide variant	NM_024301.5(FKRP):c.264C>T (p.Tyr88=)	Walker-Warburg congenital muscular dystrophy [RCV001419916]	likely benign	19	46755714	46755714	Human	1	name
127253552	CV1106601	single nucleotide variant	NM_024301.5(FKRP):c.192C>G (p.Pro64=)	Walker-Warburg congenital muscular dystrophy [RCV001437029]	likely benign	19	46755642	46755642	Human	1	name
127248651	CV1106602	single nucleotide variant	NM_024301.5(FKRP):c.201A>G (p.Val67=)	Walker-Warburg congenital muscular dystrophy [RCV001424967]	likely benign	19	46755651	46755651	Human	1	name
127312279	CV1127972	single nucleotide variant	NM_024301.5(FKRP):c.135C>G (p.Ala45=)	Walker-Warburg congenital muscular dystrophy [RCV001457110]	likely benign	19	46755585	46755585	Human	1	name
127328427	CV1127973	single nucleotide variant	NM_024301.5(FKRP):c.211C>T (p.Leu71=)	Cardiovascular phenotype [RCV002421069]\|Walker-Warburg congenital muscular dystrophy [RCV001469536]	likely benign	19	46755661	46755661	Human	1	name
127323273	CV1127974	single nucleotide variant	NM_024301.5(FKRP):c.270C>A (p.Pro90=)	Walker-Warburg congenital muscular dystrophy [RCV001467842]	likely benign	19	46755720	46755720	Human	1	name
127331686	CV1148943	single nucleotide variant	NM_024301.5(FKRP):c.108C>T (p.Ala36=)	Cardiovascular phenotype [RCV005340993]\|Walker-Warburg congenital muscular dystrophy [RCV001489008]	likely benign	19	46755558	46755558	Human	1	name
127329507	CV1148944	single nucleotide variant	NM_024301.5(FKRP):c.177T>C (p.Phe59=)	Walker-Warburg congenital muscular dystrophy [RCV001487447]	likely benign	19	46755627	46755627	Human	1	name
127309384	CV1148945	single nucleotide variant	NM_024301.5(FKRP):c.186G>T (p.Ala62=)	FKRP-related disorder [RCV004533844]\|Walker-Warburg congenital muscular dystrophy [RCV001480836]	likely benign	19	46755636	46755636	Human	1	name , alternate_id
127327166	CV1148946	single nucleotide variant	NM_024301.5(FKRP):c.228C>T (p.Ala76=)	Walker-Warburg congenital muscular dystrophy [RCV001506484]	likely benign	19	46755678	46755678	Human	1	name
150404289	CV1189373	single nucleotide variant	NM_024301.5(FKRP):c.282C>T (p.Pro94=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001563919]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001563828]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001563918]\|Walker-Warburg congenital muscular dystrophy [RCV002072148]	likely benign\|uncertain significance	19	46755732	46755732	Human	4	name
151817494	CV1337447	single nucleotide variant	NM_024301.5(FKRP):c.22G>A (p.Ala8Thr)	Cardiovascular phenotype [RCV002425258]\|Walker-Warburg congenital muscular dystrophy [RCV001919234]	uncertain significance	19	46755472	46755472	Human	1	name
151885878	CV1341041	single nucleotide variant	NM_024301.5(FKRP):c.16T>C (p.Cys6Arg)	Walker-Warburg congenital muscular dystrophy [RCV001962642]	uncertain significance	19	46755466	46755466	Human	1	name
8659562	CV134502	single nucleotide variant	NM_024301.5(FKRP):c.192C>T (p.Pro64=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272536]\|Cardiovascular phenotype [RCV002408618]\|Walker-Warburg congenital muscular dystrophy [RCV000227021]\|not provided [RCV001811960]\|not specified [RCV000117037]	benign	19	46755642	46755642	Human	2	name
152057650	CV1523220	single nucleotide variant	NM_024301.5(FKRP):c.267G>A (p.Pro89=)	Walker-Warburg congenital muscular dystrophy [RCV002167638]	likely benign	19	46755717	46755717	Human	1	name
152083415	CV1526356	single nucleotide variant	NM_024301.5(FKRP):c.198G>A (p.Leu66=)	Walker-Warburg congenital muscular dystrophy [RCV002170843]	likely benign	19	46755648	46755648	Human	1	name
152041275	CV1537696	single nucleotide variant	NM_024301.5(FKRP):c.186G>C (p.Ala62=)	Walker-Warburg congenital muscular dystrophy [RCV002165721]	likely benign	19	46755636	46755636	Human	1	name
152074243	CV1557468	single nucleotide variant	NM_024301.5(FKRP):c.114G>A (p.Gly38=)	Walker-Warburg congenital muscular dystrophy [RCV002130002]	likely benign	19	46755564	46755564	Human	1	name
152137808	CV1563444	single nucleotide variant	NM_024301.5(FKRP):c.126C>G (p.Ala42=)	Cardiovascular phenotype [RCV004616980]\|Walker-Warburg congenital muscular dystrophy [RCV002200182]	likely benign	19	46755576	46755576	Human	1	name
152134115	CV1598727	single nucleotide variant	NM_024301.5(FKRP):c.186G>A (p.Ala62=)	Walker-Warburg congenital muscular dystrophy [RCV002177196]	likely benign	19	46755636	46755636	Human	1	name
152047138	CV1600507	single nucleotide variant	NM_024301.5(FKRP):c.255G>C (p.Thr85=)	Walker-Warburg congenital muscular dystrophy [RCV002088679]	likely benign	19	46755705	46755705	Human	1	name
152135291	CV1634417	single nucleotide variant	NM_024301.5(FKRP):c.252C>T (p.Asp84=)	Walker-Warburg congenital muscular dystrophy [RCV002218632]	likely benign	19	46755702	46755702	Human	1	name
155730989	CV1780935	single nucleotide variant	NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)	Autosomal recessive limb-girdle muscular dystrophy [RCV002308725]	likely pathogenic	19	46755469	46755469	Human	1	name
156408822	CV1870334	single nucleotide variant	NM_024301.5(FKRP):c.26C>T (p.Ala9Val)	Walker-Warburg congenital muscular dystrophy [RCV003071420]	uncertain significance	19	46755476	46755476	Human	1	name
156143377	CV1918301	single nucleotide variant	NM_024301.5(FKRP):c.246A>T (p.Ala82=)	Walker-Warburg congenital muscular dystrophy [RCV002623743]	likely benign	19	46755696	46755696	Human	1	name
156265073	CV1993873	single nucleotide variant	NM_024301.5(FKRP):c.117C>G (p.Pro39=)	Walker-Warburg congenital muscular dystrophy [RCV002646346]	likely benign	19	46755567	46755567	Human	1	name
156224233	CV2081018	single nucleotide variant	NM_024301.5(FKRP):c.270C>T (p.Pro90=)	Walker-Warburg congenital muscular dystrophy [RCV002853327]	likely benign	19	46755720	46755720	Human	1	name
156058489	CV2089969	single nucleotide variant	NM_024301.5(FKRP):c.237G>A (p.Val79=)	Walker-Warburg congenital muscular dystrophy [RCV002868026]	likely benign	19	46755687	46755687	Human	1	name
156304424	CV2105159	single nucleotide variant	NM_024301.5(FKRP):c.162G>A (p.Arg54=)	Walker-Warburg congenital muscular dystrophy [RCV002922745]	likely benign	19	46755612	46755612	Human	1	name
11347773	CV243353	single nucleotide variant	NM_024301.5(FKRP):c.114G>T (p.Gly38=)	Walker-Warburg congenital muscular dystrophy [RCV000233248]	likely benign	19	46755564	46755564	Human	1	name
329351356	CV2478013	single nucleotide variant	NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)	Cardiovascular phenotype [RCV003341554]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV003224679]	uncertain significance	19	46755460	46755460	Human	3	name
401784233	CV2721179	single nucleotide variant	NM_024301.5(FKRP):c.141C>G (p.Pro47=)	Cardiovascular phenotype [RCV003310386]	likely benign	19	46755591	46755591	Human		name
401778352	CV2734625	single nucleotide variant	NM_024301.5(FKRP):c.231G>A (p.Gln77=)	Cardiovascular phenotype [RCV003306735]	likely benign	19	46755681	46755681	Human		name
11642934	CV274840	single nucleotide variant	NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273315]\|Cardiovascular phenotype [RCV002348025]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002504022]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005251001]\|Walker-Warburg congen ... (more) ital muscular dystrophy [RCV000466132]\|not provided [RCV000726517]\|not specified [RCV000382342]	uncertain significance	19	46755461	46755461	Human	5	name
405048023	CV2856846	single nucleotide variant	NM_024301.5(FKRP):c.225A>T (p.Pro75=)	Walker-Warburg congenital muscular dystrophy [RCV003592589]	likely benign	19	46755675	46755675	Human	1	name
405048035	CV2856857	single nucleotide variant	NM_024301.5(FKRP):c.105G>C (p.Arg35=)	Walker-Warburg congenital muscular dystrophy [RCV003592590]	likely benign	19	46755555	46755555	Human	1	name
405057642	CV2901828	single nucleotide variant	NM_024301.5(FKRP):c.150C>T (p.Thr50=)	Walker-Warburg congenital muscular dystrophy [RCV003593345]	likely benign	19	46755600	46755600	Human	1	name
405039444	CV2917447	single nucleotide variant	NM_024301.5(FKRP):c.117C>T (p.Pro39=)	Walker-Warburg congenital muscular dystrophy [RCV003591514]	likely benign	19	46755567	46755567	Human	1	name
405143927	CV2994798	single nucleotide variant	NM_024301.5(FKRP):c.240G>A (p.Val80=)	Walker-Warburg congenital muscular dystrophy [RCV003755613]	likely benign	19	46755690	46755690	Human	1	name
405144750	CV3000189	single nucleotide variant	NM_024301.5(FKRP):c.216G>A (p.Gln72=)	Walker-Warburg congenital muscular dystrophy [RCV003755698]	likely benign	19	46755666	46755666	Human	1	name
405145249	CV3005094	single nucleotide variant	NM_024301.5(FKRP):c.228C>A (p.Ala76=)	Walker-Warburg congenital muscular dystrophy [RCV003755763]	likely benign	19	46755678	46755678	Human	1	name
405145221	CV3008467	single nucleotide variant	NM_024301.5(FKRP):c.267G>T (p.Pro89=)	Walker-Warburg congenital muscular dystrophy [RCV003755759]	likely benign	19	46755717	46755717	Human	1	name
405148806	CV3037207	single nucleotide variant	NM_024301.5(FKRP):c.294C>T (p.Asn98=)	Walker-Warburg congenital muscular dystrophy [RCV003756119]	likely benign	19	46755744	46755744	Human	1	name
405150804	CV3057013	single nucleotide variant	NM_024301.5(FKRP):c.282C>G (p.Pro94=)	Walker-Warburg congenital muscular dystrophy [RCV003756314]	likely benign	19	46755732	46755732	Human	1	name
405153534	CV3078675	single nucleotide variant	NM_024301.5(FKRP):c.138C>T (p.Gly46=)	Walker-Warburg congenital muscular dystrophy [RCV003756485]	likely benign	19	46755588	46755588	Human	1	name
405180793	CV3119888	single nucleotide variant	NM_024301.5(FKRP):c.141C>A (p.Pro47=)	Walker-Warburg congenital muscular dystrophy [RCV003819981]	likely benign	19	46755591	46755591	Human	1	name
12885396	CV403763	single nucleotide variant	NM_024301.5(FKRP):c.13C>T (p.Arg5Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828467]\|Walker-Warburg congenital muscular dystrophy [RCV000465267]	uncertain significance	19	46755463	46755463	Human	2	name
13617305	CV533191	single nucleotide variant	NM_024301.5(FKRP):c.210C>T (p.Phe70=)	Cardiovascular phenotype [RCV004025442]\|FKRP-related disorder [RCV004533313]\|Walker-Warburg congenital muscular dystrophy [RCV000634082]	likely benign	19	46755660	46755660	Human	1	name , alternate_id
13809571	CV577810	single nucleotide variant	NM_024301.5(FKRP):c.291C>T (p.Pro97=)	Cardiovascular phenotype [RCV003380703]\|Walker-Warburg congenital muscular dystrophy [RCV001484192]\|not provided [RCV000711660]	likely benign\|uncertain significance	19	46755741	46755741	Human	1	name
15163845	CV716550	single nucleotide variant	NM_024301.5(FKRP):c.168C>T (p.Phe56=)	Cardiovascular phenotype [RCV002409284]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002479134]\|Walker-Warburg congenital muscular dystrophy [RCV000970577]	likely benign	19	46755618	46755618	Human	5	name
15104792	CV772756	single nucleotide variant	NM_024301.5(FKRP):c.111G>A (p.Arg37=)	Cardiovascular phenotype [RCV003380786]\|Walker-Warburg congenital muscular dystrophy [RCV000937457]	likely benign	19	46755561	46755561	Human	1	name
126757333	CV998658	single nucleotide variant	NM_024301.5(FKRP):c.135C>A (p.Ala45=)	Walker-Warburg congenital muscular dystrophy [RCV001308388]	likely benign\|uncertain significance	19	46755585	46755585	Human	1	name
126735531	CV1001128	single nucleotide variant	NM_024301.5(FKRP):c.975C>T (p.Thr325=)	not provided [RCV001311540]	likely benign	19	46756425	46756425	Human		name
126735996	CV1013784	single nucleotide variant	NM_024301.5(FKRP):c.77G>T (p.Trp26Leu)	Walker-Warburg congenital muscular dystrophy [RCV001313796]	uncertain significance	19	46755527	46755527	Human	1	name
8643024	CV102006	single nucleotide variant	NM_024301.5(FKRP):c.585C>T (p.Asp195=)	Cardiovascular phenotype [RCV002354283]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002505004]\|Walker-Warburg congenital muscular dystrophy [RCV001081711]\|not provided [RCV001727566]\|not specified [RCV000082179]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	19	46756035	46756035	Human	5	name
8643025	CV102007	single nucleotide variant	NM_024301.5(FKRP):c.606G>A (p.Leu202=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001831885]\|Cardiovascular phenotype [RCV002354284]\|FKRP-related disorder [RCV004542795]\|Walker-Warburg congenital muscular dystrophy [RCV001088477]\|not provided [RCV000723553]\|not specified [RCV00008 ... (more) 2180]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756056	46756056	Human	2	name , alternate_id
8643026	CV102008	single nucleotide variant	NM_024301.5(FKRP):c.696G>T (p.Ala232=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000665517]\|Walker-Warburg congenital muscular dystrophy [RCV001494780]\|not provided [RCV000082181]	likely benign\|uncertain significance	19	46756146	46756146	Human	2	name
126755422	CV1034359	single nucleotide variant	NM_024301.5(FKRP):c.324G>A (p.Leu108=)	Walker-Warburg congenital muscular dystrophy [RCV001339041]	likely benign\|uncertain significance	19	46755774	46755774	Human	1	name
127231114	CV1084852	single nucleotide variant	NM_024301.5(FKRP):c.423G>C (p.Leu141=)	Walker-Warburg congenital muscular dystrophy [RCV001395131]	likely benign	19	46755873	46755873	Human	1	name
127231522	CV1084853	single nucleotide variant	NM_024301.5(FKRP):c.525G>T (p.Leu175=)	Walker-Warburg congenital muscular dystrophy [RCV001413133]	likely benign	19	46755975	46755975	Human	1	name
127248008	CV1084854	single nucleotide variant	NM_024301.5(FKRP):c.594T>G (p.Ala198=)	Cardiovascular phenotype [RCV002357319]\|Walker-Warburg congenital muscular dystrophy [RCV001399254]	likely benign	19	46756044	46756044	Human	1	name
127244638	CV1084855	single nucleotide variant	NM_024301.5(FKRP):c.666C>T (p.Leu222=)	Walker-Warburg congenital muscular dystrophy [RCV001398590]	likely benign	19	46756116	46756116	Human	1	name
127241517	CV1084856	single nucleotide variant	NM_024301.5(FKRP):c.813G>A (p.Ala271=)	Cardiovascular phenotype [RCV002420884]\|Walker-Warburg congenital muscular dystrophy [RCV001398001]	likely benign	19	46756263	46756263	Human	1	name
127249964	CV1084857	single nucleotide variant	NM_024301.5(FKRP):c.825C>T (p.Arg275=)	Cardiovascular phenotype [RCV004616719]\|Walker-Warburg congenital muscular dystrophy [RCV001399747]	likely benign	19	46756275	46756275	Human	1	name
127260685	CV1084858	single nucleotide variant	NM_024301.5(FKRP):c.945C>G (p.Pro315=)	Walker-Warburg congenital muscular dystrophy [RCV001402230]	likely benign	19	46756395	46756395	Human	1	name
127280440	CV1084859	single nucleotide variant	NM_024301.5(FKRP):c.981C>T (p.Arg327=)	Walker-Warburg congenital muscular dystrophy [RCV001409776]	likely benign	19	46756431	46756431	Human	1	name
127236665	CV1106603	single nucleotide variant	NM_024301.5(FKRP):c.813G>T (p.Ala271=)	Cardiovascular phenotype [RCV002420947]\|Walker-Warburg congenital muscular dystrophy [RCV001422570]	likely benign	19	46756263	46756263	Human	1	name
127280616	CV1106604	single nucleotide variant	NM_024301.5(FKRP):c.933G>A (p.Glu311=)	Cardiovascular phenotype [RCV005340941]\|Walker-Warburg congenital muscular dystrophy [RCV001446587]	likely benign	19	46756383	46756383	Human	1	name
127261557	CV1106605	single nucleotide variant	NM_024301.5(FKRP):c.969C>A (p.Arg323=)	Walker-Warburg congenital muscular dystrophy [RCV001438789]	likely benign	19	46756419	46756419	Human	1	name
127300507	CV1127975	single nucleotide variant	NM_024301.5(FKRP):c.435G>A (p.Val145=)	Cardiovascular phenotype [RCV004995839]\|Walker-Warburg congenital muscular dystrophy [RCV001453913]	likely benign	19	46755885	46755885	Human	1	name
127317637	CV1127976	single nucleotide variant	NM_024301.5(FKRP):c.471C>A (p.Ala157=)	Cardiovascular phenotype [RCV002342046]\|Walker-Warburg congenital muscular dystrophy [RCV001465951]	likely benign	19	46755921	46755921	Human	1	name
127310758	CV1127977	single nucleotide variant	NM_024301.5(FKRP):c.498C>T (p.Ala166=)	Walker-Warburg congenital muscular dystrophy [RCV001456691]	likely benign	19	46755948	46755948	Human	1	name
127291020	CV1127978	single nucleotide variant	NM_024301.5(FKRP):c.588A>G (p.Gly196=)	Walker-Warburg congenital muscular dystrophy [RCV001451392]	likely benign	19	46756038	46756038	Human	1	name
127328456	CV1127979	single nucleotide variant	NM_024301.5(FKRP):c.642G>C (p.Leu214=)	Walker-Warburg congenital muscular dystrophy [RCV001469548]	likely benign	19	46756092	46756092	Human	1	name
127328891	CV1127980	single nucleotide variant	NM_024301.5(FKRP):c.651G>T (p.Pro217=)	Cardiovascular phenotype [RCV002368441]\|Walker-Warburg congenital muscular dystrophy [RCV001469864]	likely benign	19	46756101	46756101	Human	1	name
127302883	CV1127981	single nucleotide variant	NM_024301.5(FKRP):c.780G>A (p.Glu260=)	Walker-Warburg congenital muscular dystrophy [RCV001454551]\|not provided [RCV001581140]	likely benign	19	46756230	46756230	Human	1	name
127307929	CV1127982	single nucleotide variant	NM_024301.5(FKRP):c.795G>C (p.Arg265=)	Cardiovascular phenotype [RCV002421031]\|FKRP-related disorder [RCV004533773]\|Walker-Warburg congenital muscular dystrophy [RCV001455925]	likely benign	19	46756245	46756245	Human	1	name , alternate_id
127332482	CV1127983	single nucleotide variant	NM_024301.5(FKRP):c.882G>C (p.Thr294=)	Walker-Warburg congenital muscular dystrophy [RCV001472239]	likely benign	19	46756332	46756332	Human	1	name
127289933	CV1127984	single nucleotide variant	NM_024301.5(FKRP):c.915C>G (p.Pro305=)	Walker-Warburg congenital muscular dystrophy [RCV001458265]	likely benign	19	46756365	46756365	Human	1	name
127292953	CV1127985	single nucleotide variant	NM_024301.5(FKRP):c.918C>T (p.Ala306=)	Walker-Warburg congenital muscular dystrophy [RCV001451863]	likely benign	19	46756368	46756368	Human	1	name
127326624	CV1127986	single nucleotide variant	NM_024301.5(FKRP):c.948C>A (p.Pro316=)	Cardiovascular phenotype [RCV004038675]\|Walker-Warburg congenital muscular dystrophy [RCV001468814]	likely benign	19	46756398	46756398	Human	1	name
127303582	CV1127987	single nucleotide variant	NM_024301.5(FKRP):c.984T>C (p.Tyr328=)	Walker-Warburg congenital muscular dystrophy [RCV001454789]	likely benign	19	46756434	46756434	Human	1	name
127309849	CV1148947	single nucleotide variant	NM_024301.5(FKRP):c.348C>G (p.Arg116=)	Cardiovascular phenotype [RCV003161008]\|Walker-Warburg congenital muscular dystrophy [RCV001501170]	likely benign	19	46755798	46755798	Human	1	name
127307728	CV1148948	single nucleotide variant	NM_024301.5(FKRP):c.471C>T (p.Ala157=)	Cardiovascular phenotype [RCV002334549]\|FKRP-related disorder [RCV004533899]\|Walker-Warburg congenital muscular dystrophy [RCV001500574]	likely benign	19	46755921	46755921	Human	1	name , alternate_id
127315366	CV1148949	single nucleotide variant	NM_024301.5(FKRP):c.600G>T (p.Val200=)	Walker-Warburg congenital muscular dystrophy [RCV001502688]	likely benign	19	46756050	46756050	Human	1	name
127309358	CV1148950	single nucleotide variant	NM_024301.5(FKRP):c.897C>T (p.Thr299=)	Cardiovascular phenotype [RCV004616739]\|Walker-Warburg congenital muscular dystrophy [RCV001480825]\|not specified [RCV005405621]	likely benign	19	46756347	46756347	Human	1	name
127304254	CV1148951	single nucleotide variant	NM_024301.5(FKRP):c.900G>T (p.Val300=)	Walker-Warburg congenital muscular dystrophy [RCV001499577]	likely benign	19	46756350	46756350	Human	1	name
127302579	CV1148952	single nucleotide variant	NM_024301.5(FKRP):c.915C>T (p.Pro305=)	Walker-Warburg congenital muscular dystrophy [RCV001478974]	likely benign	19	46756365	46756365	Human	1	name
127336324	CV1148953	single nucleotide variant	NM_024301.5(FKRP):c.927C>T (p.Tyr309=)	Cardiovascular phenotype [RCV002377844]\|Walker-Warburg congenital muscular dystrophy [RCV001492080]	likely benign	19	46756377	46756377	Human	1	name
150421422	CV1181777	deletion	NM_024301.5(FKRP):c.-39-206_-39-205del	not provided [RCV001552012]	likely benign	19	46755191	46755192	Human		name
151737027	CV1361896	single nucleotide variant	NM_024301.5(FKRP):c.798G>A (p.Ala266=)	Walker-Warburg congenital muscular dystrophy [RCV001967742]	likely benign\|uncertain significance	19	46756248	46756248	Human	1	name
151803776	CV1364771	single nucleotide variant	NM_024301.5(FKRP):c.819C>T (p.Gly273=)	Walker-Warburg congenital muscular dystrophy [RCV001991190]	likely benign\|uncertain significance	19	46756269	46756269	Human	1	name
151826334	CV1425903	single nucleotide variant	NM_024301.5(FKRP):c.960C>T (p.Arg320=)	Walker-Warburg congenital muscular dystrophy [RCV001993268]	likely benign	19	46756410	46756410	Human	1	name
151755919	CV1426032	deletion	NM_024301.5(FKRP):c.224del (p.Pro75fs)	Walker-Warburg congenital muscular dystrophy [RCV002007324]	pathogenic	19	46755672	46755672	Human	1	name
151736523	CV1464636	single nucleotide variant	NM_024301.5(FKRP):c.909C>T (p.Asp303=)	Walker-Warburg congenital muscular dystrophy [RCV001946639]	likely benign	19	46756359	46756359	Human	1	name
152056794	CV1523093	single nucleotide variant	NM_024301.5(FKRP):c.720C>T (p.Phe240=)	Walker-Warburg congenital muscular dystrophy [RCV002167540]	likely benign	19	46756170	46756170	Human	1	name
152108161	CV1529944	single nucleotide variant	NM_024301.5(FKRP):c.420G>A (p.Leu140=)	Walker-Warburg congenital muscular dystrophy [RCV002196425]	likely benign	19	46755870	46755870	Human	1	name
152086647	CV1531785	single nucleotide variant	NM_024301.5(FKRP):c.549C>T (p.Gly183=)	Walker-Warburg congenital muscular dystrophy [RCV002077072]	likely benign	19	46755999	46755999	Human	1	name
152152725	CV1533367	single nucleotide variant	NM_024301.5(FKRP):c.558C>A (p.Pro186=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002498301]\|Walker-Warburg congenital muscular dystrophy [RCV002102478]	likely benign	19	46756008	46756008	Human	2	name
152158307	CV1541970	single nucleotide variant	NM_024301.5(FKRP):c.537C>T (p.Thr179=)	Walker-Warburg congenital muscular dystrophy [RCV002103299]	likely benign	19	46755987	46755987	Human	1	name
152167796	CV1547791	single nucleotide variant	NM_024301.5(FKRP):c.987G>T (p.Val329=)	Walker-Warburg congenital muscular dystrophy [RCV002160955]	likely benign	19	46756437	46756437	Human	1	name
152151304	CV1550158	single nucleotide variant	NM_024301.5(FKRP):c.336C>G (p.Ala112=)	Walker-Warburg congenital muscular dystrophy [RCV002202010]	likely benign	19	46755786	46755786	Human	1	name
152108515	CV1550808	single nucleotide variant	NM_024301.5(FKRP):c.511C>T (p.Leu171=)	Walker-Warburg congenital muscular dystrophy [RCV002152731]	likely benign	19	46755961	46755961	Human	1	name
152082375	CV1551906	single nucleotide variant	NM_024301.5(FKRP):c.753C>A (p.Ala251=)	Walker-Warburg congenital muscular dystrophy [RCV002093022]	likely benign	19	46756203	46756203	Human	1	name
152084701	CV1554938	single nucleotide variant	NM_024301.5(FKRP):c.540C>T (p.Ala180=)	Cardiovascular phenotype [RCV002346386]\|Walker-Warburg congenital muscular dystrophy [RCV002211884]	likely benign	19	46755990	46755990	Human	1	name
152046592	CV1556279	single nucleotide variant	NM_024301.5(FKRP):c.759G>T (p.Ala253=)	Walker-Warburg congenital muscular dystrophy [RCV002206992]	likely benign	19	46756209	46756209	Human	1	name
152062105	CV1558471	single nucleotide variant	NM_024301.5(FKRP):c.963G>C (p.Ala321=)	Walker-Warburg congenital muscular dystrophy [RCV002128457]	likely benign	19	46756413	46756413	Human	1	name
152105273	CV1559889	single nucleotide variant	NM_024301.5(FKRP):c.847C>A (p.Arg283=)	Walker-Warburg congenital muscular dystrophy [RCV002133767]	likely benign	19	46756297	46756297	Human	1	name
152068456	CV1571195	single nucleotide variant	NM_024301.5(FKRP):c.501G>A (p.Arg167=)	Cardiovascular phenotype [RCV004990707]\|Walker-Warburg congenital muscular dystrophy [RCV002129285]	likely benign	19	46755951	46755951	Human	1	name
152139014	CV1572370	single nucleotide variant	NM_024301.5(FKRP):c.525G>A (p.Leu175=)	Walker-Warburg congenital muscular dystrophy [RCV002219123]	likely benign	19	46755975	46755975	Human	1	name
152105756	CV1572603	single nucleotide variant	NM_024301.5(FKRP):c.555C>G (p.Ala185=)	Walker-Warburg congenital muscular dystrophy [RCV002152375]	likely benign	19	46756005	46756005	Human	1	name
152152419	CV1572605	single nucleotide variant	NM_024301.5(FKRP):c.861C>T (p.Phe287=)	Walker-Warburg congenital muscular dystrophy [RCV002139722]	likely benign	19	46756311	46756311	Human	1	name
152171603	CV1575550	single nucleotide variant	NM_024301.5(FKRP):c.558C>G (p.Pro186=)	Walker-Warburg congenital muscular dystrophy [RCV002183554]	likely benign	19	46756008	46756008	Human	1	name
152038185	CV1576663	single nucleotide variant	NM_024301.5(FKRP):c.441G>T (p.Ala147=)	Walker-Warburg congenital muscular dystrophy [RCV002107337]	likely benign	19	46755891	46755891	Human	1	name
152026680	CV1583027	single nucleotide variant	NM_024301.5(FKRP):c.810C>A (p.Arg270=)	Walker-Warburg congenital muscular dystrophy [RCV002084879]	likely benign	19	46756260	46756260	Human	1	name
152096027	CV1586784	single nucleotide variant	NM_024301.5(FKRP):c.603C>T (p.Leu201=)	Walker-Warburg congenital muscular dystrophy [RCV002078358]	likely benign	19	46756053	46756053	Human	1	name
152142112	CV1588759	single nucleotide variant	NM_024301.5(FKRP):c.906C>T (p.Gly302=)	Walker-Warburg congenital muscular dystrophy [RCV002200710]	likely benign	19	46756356	46756356	Human	1	name
152038861	CV1592635	single nucleotide variant	NM_024301.5(FKRP):c.414T>C (p.Pro138=)	Walker-Warburg congenital muscular dystrophy [RCV002187947]	likely benign	19	46755864	46755864	Human	1	name
152090114	CV1593995	single nucleotide variant	NM_024301.5(FKRP):c.555C>A (p.Ala185=)	Walker-Warburg congenital muscular dystrophy [RCV002171712]	likely benign	19	46756005	46756005	Human	1	name
152115069	CV1600430	single nucleotide variant	NM_024301.5(FKRP):c.390T>C (p.Pro130=)	Walker-Warburg congenital muscular dystrophy [RCV002097365]	likely benign	19	46755840	46755840	Human	1	name
152134360	CV1601328	single nucleotide variant	NM_024301.5(FKRP):c.600G>A (p.Val200=)	Walker-Warburg congenital muscular dystrophy [RCV002099913]	likely benign	19	46756050	46756050	Human	1	name
152086585	CV1602321	single nucleotide variant	NM_024301.5(FKRP):c.870C>T (p.Asn290=)	Walker-Warburg congenital muscular dystrophy [RCV002113472]	likely benign	19	46756320	46756320	Human	1	name
152049877	CV1602619	single nucleotide variant	NM_024301.5(FKRP):c.411A>C (p.Ala137=)	Walker-Warburg congenital muscular dystrophy [RCV002127109]	likely benign	19	46755861	46755861	Human	1	name
152147152	CV1608118	single nucleotide variant	NM_024301.5(FKRP):c.639C>G (p.Pro213=)	Walker-Warburg congenital muscular dystrophy [RCV002178895]	likely benign	19	46756089	46756089	Human	1	name
152163849	CV1619110	single nucleotide variant	NM_024301.5(FKRP):c.801G>A (p.Ala267=)	Walker-Warburg congenital muscular dystrophy [RCV002123684]	likely benign	19	46756251	46756251	Human	1	name
152161747	CV1619519	single nucleotide variant	NM_024301.5(FKRP):c.561C>T (p.Ala187=)	Walker-Warburg congenital muscular dystrophy [RCV002159761]	likely benign	19	46756011	46756011	Human	1	name
152117053	CV1622992	single nucleotide variant	NM_024301.5(FKRP):c.648G>A (p.Arg216=)	Walker-Warburg congenital muscular dystrophy [RCV002117335]	likely benign	19	46756098	46756098	Human	1	name
152093499	CV1625897	single nucleotide variant	NM_024301.5(FKRP):c.441G>A (p.Ala147=)	Walker-Warburg congenital muscular dystrophy [RCV002150893]	likely benign	19	46755891	46755891	Human	1	name
152098218	CV1627029	single nucleotide variant	NM_024301.5(FKRP):c.915C>A (p.Pro305=)	Cardiovascular phenotype [RCV002372907]\|Walker-Warburg congenital muscular dystrophy [RCV002095151]	likely benign	19	46756365	46756365	Human	1	name
152073227	CV1637968	single nucleotide variant	NM_024301.5(FKRP):c.826C>T (p.Leu276=)	Walker-Warburg congenital muscular dystrophy [RCV002192070]	likely benign	19	46756276	46756276	Human	1	name
152038553	CV1642236	single nucleotide variant	NM_024301.5(FKRP):c.438G>A (p.Glu146=)	Walker-Warburg congenital muscular dystrophy [RCV002107391]	likely benign	19	46755888	46755888	Human	1	name
152098347	CV1650332	single nucleotide variant	NM_024301.5(FKRP):c.955C>T (p.Leu319=)	Walker-Warburg congenital muscular dystrophy [RCV002114997]	likely benign	19	46756405	46756405	Human	1	name
152072717	CV1657253	single nucleotide variant	NM_024301.5(FKRP):c.744G>A (p.Leu248=)	Walker-Warburg congenital muscular dystrophy [RCV002210193]	likely benign	19	46756194	46756194	Human	1	name
152141063	CV1660979	single nucleotide variant	NM_024301.5(FKRP):c.333A>C (p.Pro111=)	Walker-Warburg congenital muscular dystrophy [RCV002120378]	likely benign	19	46755783	46755783	Human	1	name
152174308	CV1662717	single nucleotide variant	NM_024301.5(FKRP):c.738C>T (p.Pro246=)	Walker-Warburg congenital muscular dystrophy [RCV002163111]	likely benign	19	46756188	46756188	Human	1	name
155675759	CV1795945	single nucleotide variant	NM_024301.5(FKRP):c.357C>G (p.Thr119=)	Cardiovascular phenotype [RCV002455070]\|Walker-Warburg congenital muscular dystrophy [RCV003099594]	likely benign	19	46755807	46755807	Human	1	name
155665204	CV1804023	single nucleotide variant	NM_024301.5(FKRP):c.61C>T (p.Leu21Phe)	Cardiovascular phenotype [RCV002366446]	uncertain significance	19	46755511	46755511	Human		name
155730202	CV1814127	single nucleotide variant	NM_024301.5(FKRP):c.834C>T (p.Ser278=)	Cardiovascular phenotype [RCV002434702]	likely benign	19	46756284	46756284	Human		name
155742153	CV1816568	single nucleotide variant	NM_024301.5(FKRP):c.786C>T (p.Arg262=)	Cardiovascular phenotype [RCV002412266]\|Walker-Warburg congenital muscular dystrophy [RCV003776450]	likely benign	19	46756236	46756236	Human	1	name
155701999	CV1818487	single nucleotide variant	NM_024301.5(FKRP):c.969C>G (p.Arg323=)	Cardiovascular phenotype [RCV002376606]\|Walker-Warburg congenital muscular dystrophy [RCV003094855]	likely benign	19	46756419	46756419	Human	1	name
155714763	CV1820862	single nucleotide variant	NM_024301.5(FKRP):c.85C>A (p.His29Asn)	Cardiovascular phenotype [RCV002447977]	uncertain significance	19	46755535	46755535	Human		name
155692392	CV1821587	single nucleotide variant	NM_024301.5(FKRP):c.951C>T (p.Cys317=)	Cardiovascular phenotype [RCV002374207]	likely benign	19	46756401	46756401	Human		name
155725238	CV1824941	single nucleotide variant	NM_024301.5(FKRP):c.936C>G (p.Arg312=)	Cardiovascular phenotype [RCV002450102]\|Walker-Warburg congenital muscular dystrophy [RCV003100153]	likely benign	19	46756386	46756386	Human	1	name
155691298	CV1825178	single nucleotide variant	NM_024301.5(FKRP):c.942G>A (p.Thr314=)	Cardiovascular phenotype [RCV002373999]	likely benign	19	46756392	46756392	Human		name
155673780	CV1825631	single nucleotide variant	NM_024301.5(FKRP):c.978C>T (p.Ala326=)	Cardiovascular phenotype [RCV002387192]\|Walker-Warburg congenital muscular dystrophy [RCV003094873]	likely benign	19	46756428	46756428	Human	1	name
156396872	CV1870931	single nucleotide variant	NM_024301.5(FKRP):c.387A>G (p.Val129=)	Walker-Warburg congenital muscular dystrophy [RCV003068702]	likely benign	19	46755837	46755837	Human	1	name
156151917	CV1879041	single nucleotide variant	NM_024301.5(FKRP):c.723C>G (p.Ala241=)	Walker-Warburg congenital muscular dystrophy [RCV003056565]	likely benign	19	46756173	46756173	Human	1	name
156050924	CV1884417	single nucleotide variant	NM_024301.5(FKRP):c.888C>T (p.Cys296=)	Walker-Warburg congenital muscular dystrophy [RCV003078870]	likely benign	19	46756338	46756338	Human	1	name
156003486	CV1895801	single nucleotide variant	NM_024301.5(FKRP):c.86A>G (p.His29Arg)	Walker-Warburg congenital muscular dystrophy [RCV003098911]	uncertain significance	19	46755536	46755536	Human	1	name
156024639	CV1896040	single nucleotide variant	NM_024301.5(FKRP):c.474C>A (p.Ala158=)	Walker-Warburg congenital muscular dystrophy [RCV003100368]	likely benign	19	46755924	46755924	Human	1	name
155955670	CV1915393	single nucleotide variant	NM_024301.5(FKRP):c.639C>T (p.Pro213=)	Walker-Warburg congenital muscular dystrophy [RCV002616462]	likely benign	19	46756089	46756089	Human	1	name
156086655	CV1919541	single nucleotide variant	NM_024301.5(FKRP):c.879C>T (p.Thr293=)	Walker-Warburg congenital muscular dystrophy [RCV002591759]	likely benign	19	46756329	46756329	Human	1	name
156181745	CV1924498	single nucleotide variant	NM_024301.5(FKRP):c.882G>A (p.Thr294=)	Walker-Warburg congenital muscular dystrophy [RCV002625063]	likely benign	19	46756332	46756332	Human	1	name
156447672	CV1942400	single nucleotide variant	NM_024301.5(FKRP):c.771T>C (p.Ala257=)	Walker-Warburg congenital muscular dystrophy [RCV003119212]	likely benign	19	46756221	46756221	Human	1	name
10048746	CV194501	single nucleotide variant	NM_024301.5(FKRP):c.636G>A (p.Ala212=)	Cardiovascular phenotype [RCV002362913]\|FKRP-related disorder [RCV004537461]\|Walker-Warburg congenital muscular dystrophy [RCV000471527]\|not provided [RCV003422072]\|not specified [RCV000178352]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	46756086	46756086	Human	1	name , alternate_id
10052225	CV194504	single nucleotide variant	NM_024301.5(FKRP):c.729G>A (p.Ala243=)	Walker-Warburg congenital muscular dystrophy [RCV001462245]\|not provided [RCV000178355]	likely benign\|uncertain significance	19	46756179	46756179	Human	1	name
10052231	CV194510	single nucleotide variant	NM_024301.5(FKRP):c.954C>T (p.Cys318=)	Cardiovascular phenotype [RCV002372094]\|Walker-Warburg congenital muscular dystrophy [RCV001085557]\|not provided [RCV000178361]\|not specified [RCV001818438]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756404	46756404	Human	1	name
156157077	CV1987883	single nucleotide variant	NM_024301.5(FKRP):c.807C>G (p.Leu269=)	Walker-Warburg congenital muscular dystrophy [RCV002642269]	likely benign	19	46756257	46756257	Human	1	name
156033416	CV2002512	single nucleotide variant	NM_024301.5(FKRP):c.330G>T (p.Arg110=)	Walker-Warburg congenital muscular dystrophy [RCV002658756]	likely benign	19	46755780	46755780	Human	1	name
156083645	CV2023710	single nucleotide variant	NM_024301.5(FKRP):c.609C>T (p.Arg203=)	Walker-Warburg congenital muscular dystrophy [RCV002760708]	likely benign	19	46756059	46756059	Human	1	name
156024199	CV2025600	single nucleotide variant	NM_024301.5(FKRP):c.318C>A (p.Pro106=)	Walker-Warburg congenital muscular dystrophy [RCV002735517]	likely benign	19	46755768	46755768	Human	1	name
156328697	CV2050488	single nucleotide variant	NM_024301.5(FKRP):c.774G>A (p.Glu258=)	Walker-Warburg congenital muscular dystrophy [RCV002810549]	likely benign	19	46756224	46756224	Human	1	name
156122152	CV2052366	single nucleotide variant	NM_024301.5(FKRP):c.97A>G (p.Asn33Asp)	Cardiovascular phenotype [RCV004990879]\|Walker-Warburg congenital muscular dystrophy [RCV002825341]	uncertain significance	19	46755547	46755547	Human	1	name
156062410	CV2065433	single nucleotide variant	NM_024301.5(FKRP):c.621C>G (p.Leu207=)	Walker-Warburg congenital muscular dystrophy [RCV002846819]	likely benign	19	46756071	46756071	Human	1	name
156067124	CV2065619	single nucleotide variant	NM_024301.5(FKRP):c.963G>A (p.Ala321=)	Walker-Warburg congenital muscular dystrophy [RCV002846959]	likely benign	19	46756413	46756413	Human	1	name
156322524	CV2067703	duplication	NM_024301.5(FKRP):c.142dup (p.Arg48fs)	Walker-Warburg congenital muscular dystrophy [RCV002834801]	pathogenic	19	46755587	46755588	Human	1	name
155914393	CV2077972	single nucleotide variant	NM_024301.5(FKRP):c.618C>T (p.Asp206=)	Walker-Warburg congenital muscular dystrophy [RCV002858727]	likely benign	19	46756068	46756068	Human	1	name
10406563	CV208610	single nucleotide variant	NM_024301.5(FKRP):c.483C>T (p.Ala161=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000674471]\|Cardiovascular phenotype [RCV002327026]\|Walker-Warburg congenital muscular dystrophy [RCV001496128]\|not specified [RCV000193165]	likely benign\|uncertain significance	19	46755933	46755933	Human	2	name
10404089	CV208611	single nucleotide variant	NM_024301.5(FKRP):c.699G>A (p.Val233=)	Cardiovascular phenotype [RCV002372163]\|Walker-Warburg congenital muscular dystrophy [RCV000950919]\|not provided [RCV001582685]\|not specified [RCV000194156]	likely benign\|uncertain significance	19	46756149	46756149	Human	1	name
156312789	CV2087511	single nucleotide variant	NM_024301.5(FKRP):c.918C>G (p.Ala306=)	Walker-Warburg congenital muscular dystrophy [RCV002857764]	likely benign	19	46756368	46756368	Human	1	name
156123149	CV2088595	single nucleotide variant	NM_024301.5(FKRP):c.687C>T (p.Arg229=)	Walker-Warburg congenital muscular dystrophy [RCV002889644]	likely benign	19	46756137	46756137	Human	1	name
156084050	CV2094977	single nucleotide variant	NM_024301.5(FKRP):c.582G>T (p.Leu194=)	Walker-Warburg congenital muscular dystrophy [RCV002912799]	likely benign	19	46756032	46756032	Human	1	name
156106505	CV2096443	single nucleotide variant	NM_024301.5(FKRP):c.891C>T (p.Phe297=)	Cardiovascular phenotype [RCV004990909]\|Walker-Warburg congenital muscular dystrophy [RCV002913602]	likely benign	19	46756341	46756341	Human	1	name
156098357	CV2107001	single nucleotide variant	NM_024301.5(FKRP):c.91C>T (p.Pro31Ser)	Walker-Warburg congenital muscular dystrophy [RCV002926950]	uncertain significance	19	46755541	46755541	Human	1	name
156020023	CV2141192	single nucleotide variant	NM_024301.5(FKRP):c.885C>G (p.Arg295=)	Walker-Warburg congenital muscular dystrophy [RCV002976107]	likely benign	19	46756335	46756335	Human	1	name
156020409	CV2141229	single nucleotide variant	NM_024301.5(FKRP):c.795G>A (p.Arg265=)	Walker-Warburg congenital muscular dystrophy [RCV002976126]	likely benign	19	46756245	46756245	Human	1	name
156033827	CV2152759	single nucleotide variant	NM_024301.5(FKRP):c.807C>T (p.Leu269=)	Walker-Warburg congenital muscular dystrophy [RCV003018789]	likely benign	19	46756257	46756257	Human	1	name
156294681	CV2152940	single nucleotide variant	NM_024301.5(FKRP):c.714G>A (p.Leu238=)	Walker-Warburg congenital muscular dystrophy [RCV003010110]	likely benign	19	46756164	46756164	Human	1	name
156072643	CV2163686	single nucleotide variant	NM_024301.5(FKRP):c.846G>C (p.Gly282=)	Walker-Warburg congenital muscular dystrophy [RCV003020084]	likely benign	19	46756296	46756296	Human	1	name
156047973	CV2186560	single nucleotide variant	NM_024301.5(FKRP):c.396G>A (p.Gly132=)	Walker-Warburg congenital muscular dystrophy [RCV003036809]	likely benign	19	46755846	46755846	Human	1	name
11346436	CV243355	single nucleotide variant	NM_024301.5(FKRP):c.582G>A (p.Leu194=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000669233]\|Cardiovascular phenotype [RCV004619230]\|Walker-Warburg congenital muscular dystrophy [RCV000228492]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756032	46756032	Human	2	name
11545927	CV257155	single nucleotide variant	NM_024301.5(FKRP):c.486G>A (p.Thr162=)	Cardiovascular phenotype [RCV004619235]\|Walker-Warburg congenital muscular dystrophy [RCV002058325]\|not specified [RCV000245800]	likely benign	19	46755936	46755936	Human	1	name
11552225	CV257156	single nucleotide variant	NM_024301.5(FKRP):c.567C>T (p.Pro189=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828147]\|Cardiovascular phenotype [RCV002347967]\|Walker-Warburg congenital muscular dystrophy [RCV001085023]\|not provided [RCV000725158]\|not specified [RCV000254084]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756017	46756017	Human	2	name
11549283	CV257157	single nucleotide variant	NM_024301.5(FKRP):c.708G>A (p.Leu236=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000668416]\|Walker-Warburg congenital muscular dystrophy [RCV001477386]\|not specified [RCV000250209]	likely benign	19	46756158	46756158	Human	2	name
11642773	CV269212	single nucleotide variant	NM_024301.5(FKRP):c.43A>C (p.Thr15Pro)	Cardiovascular phenotype [RCV002328772]\|Walker-Warburg congenital muscular dystrophy [RCV001366726]\|not provided [RCV000380326]	uncertain significance	19	46755493	46755493	Human	1	name
11637046	CV269957	single nucleotide variant	NM_024301.5(FKRP):c.969C>T (p.Arg323=)	Cardiovascular phenotype [RCV002379132]\|Walker-Warburg congenital muscular dystrophy [RCV001081031]\|not provided [RCV000725724]\|not specified [RCV003330622]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756419	46756419	Human	1	name
11642089	CV269961	single nucleotide variant	NM_024301.5(FKRP):c.531G>A (p.Glu177=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828220]\|Cardiovascular phenotype [RCV002348001]\|Walker-Warburg congenital muscular dystrophy [RCV001081894]\|not provided [RCV000725725]\|not specified [RCV003330623]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46755981	46755981	Human	2	name
11637282	CV269972	single nucleotide variant	NM_024301.5(FKRP):c.85C>T (p.His29Tyr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828221]\|Cardiovascular phenotype [RCV005338126]\|Walker-Warburg congenital muscular dystrophy [RCV001347668]\|not provided [RCV000282353]	uncertain significance	19	46755535	46755535	Human	2	name
401754915	CV2734622	single nucleotide variant	NM_024301.5(FKRP):c.369C>G (p.Thr123=)	Cardiovascular phenotype [RCV003278183]	likely benign	19	46755819	46755819	Human		name
401754916	CV2734623	single nucleotide variant	NM_024301.5(FKRP):c.384A>G (p.Leu128=)	Cardiovascular phenotype [RCV003278184]	likely benign	19	46755834	46755834	Human		name
11643445	CV273488	single nucleotide variant	NM_024301.5(FKRP):c.885C>T (p.Arg295=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275317]\|Cardiovascular phenotype [RCV002446530]\|Walker-Warburg congenital muscular dystrophy [RCV001083609]\|not provided [RCV000394110]\|not specified [RCV001729511]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756335	46756335	Human	2	name
401941257	CV2835814	single nucleotide variant	NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461573]	likely pathogenic	19	46755538	46755538	Human	1	name
401962582	CV2845228	single nucleotide variant	NM_024301.5(FKRP):c.930G>A (p.Glu310=)	Walker-Warburg congenital muscular dystrophy [RCV003779228]\|not provided [RCV003482689]	likely benign\|uncertain significance	19	46756380	46756380	Human	1	name
405046172	CV2860823	single nucleotide variant	NM_024301.5(FKRP):c.957G>T (p.Leu319=)	Walker-Warburg congenital muscular dystrophy [RCV003592406]	likely benign	19	46756407	46756407	Human	1	name
405046696	CV2864507	single nucleotide variant	NM_024301.5(FKRP):c.882G>T (p.Thr294=)	Walker-Warburg congenital muscular dystrophy [RCV003592424]	likely benign	19	46756332	46756332	Human	1	name
405048687	CV2871079	single nucleotide variant	NM_024301.5(FKRP):c.996G>A (p.Val332=)	Walker-Warburg congenital muscular dystrophy [RCV003592645]	likely benign	19	46756446	46756446	Human	1	name
405050546	CV2876563	single nucleotide variant	NM_024301.5(FKRP):c.789T>C (p.Ala263=)	Walker-Warburg congenital muscular dystrophy [RCV003592807]	likely benign	19	46756239	46756239	Human	1	name
405052313	CV2887763	single nucleotide variant	NM_024301.5(FKRP):c.771T>G (p.Ala257=)	Walker-Warburg congenital muscular dystrophy [RCV003592910]	likely benign	19	46756221	46756221	Human	1	name
405200632	CV2895698	single nucleotide variant	NM_024301.5(FKRP):c.363G>A (p.Val121=)	Walker-Warburg congenital muscular dystrophy [RCV003591177]	likely benign	19	46755813	46755813	Human	1	name
405056330	CV2905314	single nucleotide variant	NM_024301.5(FKRP):c.690C>T (p.Gly230=)	Walker-Warburg congenital muscular dystrophy [RCV003593328]	likely benign	19	46756140	46756140	Human	1	name
405040378	CV2914258	single nucleotide variant	NM_024301.5(FKRP):c.771T>A (p.Ala257=)	Walker-Warburg congenital muscular dystrophy [RCV003591486]	likely benign	19	46756221	46756221	Human	1	name
405038215	CV2915631	single nucleotide variant	NM_024301.5(FKRP):c.843C>T (p.Gly281=)	Walker-Warburg congenital muscular dystrophy [RCV003591391]	likely benign	19	46756293	46756293	Human	1	name
405044168	CV2923974	single nucleotide variant	NM_024301.5(FKRP):c.813G>C (p.Ala271=)	Walker-Warburg congenital muscular dystrophy [RCV003592208]	likely benign	19	46756263	46756263	Human	1	name
405043775	CV2932841	single nucleotide variant	NM_024301.5(FKRP):c.867C>T (p.Cys289=)	Walker-Warburg congenital muscular dystrophy [RCV003592176]	likely benign	19	46756317	46756317	Human	1	name
405143626	CV2980179	single nucleotide variant	NM_024301.5(FKRP):c.717C>G (p.Thr239=)	Walker-Warburg congenital muscular dystrophy [RCV003755585]	likely benign	19	46756167	46756167	Human	1	name
405144810	CV2996699	single nucleotide variant	NM_024301.5(FKRP):c.699G>T (p.Val233=)	Walker-Warburg congenital muscular dystrophy [RCV003755704]	likely benign	19	46756149	46756149	Human	1	name
405145648	CV3009551	single nucleotide variant	NM_024301.5(FKRP):c.624C>T (p.Phe208=)	Walker-Warburg congenital muscular dystrophy [RCV003755808]	likely benign	19	46756074	46756074	Human	1	name
405145669	CV3009685	single nucleotide variant	NM_024301.5(FKRP):c.615C>G (p.Arg205=)	Walker-Warburg congenital muscular dystrophy [RCV003755810]	likely benign	19	46756065	46756065	Human	1	name
405145984	CV3013435	deletion	NM_024301.5(FKRP):c.261del (p.Tyr88fs)	Walker-Warburg congenital muscular dystrophy [RCV003755843]	pathogenic	19	46755708	46755708	Human	1	name
405145276	CV3015132	single nucleotide variant	NM_024301.5(FKRP):c.666C>G (p.Leu222=)	Walker-Warburg congenital muscular dystrophy [RCV003755766]	likely benign	19	46756116	46756116	Human	1	name
405146772	CV3022560	single nucleotide variant	NM_024301.5(FKRP):c.777C>G (p.Arg259=)	Walker-Warburg congenital muscular dystrophy [RCV003755921]	likely benign	19	46756227	46756227	Human	1	name
405147049	CV3024864	deletion	NM_024301.5(FKRP):c.295del (p.Val99fs)	Walker-Warburg congenital muscular dystrophy [RCV003755876]	pathogenic	19	46755745	46755745	Human	1	name
405146759	CV3025937	single nucleotide variant	NM_024301.5(FKRP):c.390T>G (p.Pro130=)	Walker-Warburg congenital muscular dystrophy [RCV003755920]	likely benign	19	46755840	46755840	Human	1	name
405147310	CV3026795	single nucleotide variant	NM_024301.5(FKRP):c.696G>A (p.Ala232=)	Walker-Warburg congenital muscular dystrophy [RCV003755945]	likely benign	19	46756146	46756146	Human	1	name
405148078	CV3037632	single nucleotide variant	NM_024301.5(FKRP):c.741G>T (p.Pro247=)	Walker-Warburg congenital muscular dystrophy [RCV003756024]	likely benign	19	46756191	46756191	Human	1	name
405148666	CV3039627	single nucleotide variant	NM_024301.5(FKRP):c.633G>C (p.Ser211=)	Walker-Warburg congenital muscular dystrophy [RCV003756081]	likely benign	19	46756083	46756083	Human	1	name
405148730	CV3040015	single nucleotide variant	NM_024301.5(FKRP):c.957G>C (p.Leu319=)	Walker-Warburg congenital muscular dystrophy [RCV003756112]	likely benign	19	46756407	46756407	Human	1	name
405149128	CV3043273	single nucleotide variant	NM_024301.5(FKRP):c.942G>C (p.Thr314=)	Walker-Warburg congenital muscular dystrophy [RCV003756150]	likely benign	19	46756392	46756392	Human	1	name
405149058	CV3049958	single nucleotide variant	NM_024301.5(FKRP):c.879C>A (p.Thr293=)	Walker-Warburg congenital muscular dystrophy [RCV003756143]	likely benign	19	46756329	46756329	Human	1	name
405150202	CV3053359	single nucleotide variant	NM_024301.5(FKRP):c.978C>A (p.Ala326=)	Walker-Warburg congenital muscular dystrophy [RCV003756158]	likely benign	19	46756428	46756428	Human	1	name
405149257	CV3053601	single nucleotide variant	NM_024301.5(FKRP):c.477G>C (p.Pro159=)	Walker-Warburg congenital muscular dystrophy [RCV003756161]	likely benign	19	46755927	46755927	Human	1	name
405149267	CV3053603	single nucleotide variant	NM_024301.5(FKRP):c.591T>C (p.Asp197=)	Walker-Warburg congenital muscular dystrophy [RCV003756162]	likely benign	19	46756041	46756041	Human	1	name
405152427	CV3062918	single nucleotide variant	NM_024301.5(FKRP):c.960C>G (p.Arg320=)	Walker-Warburg congenital muscular dystrophy [RCV003756456]	likely benign	19	46756410	46756410	Human	1	name
405152480	CV3063104	single nucleotide variant	NM_024301.5(FKRP):c.597G>A (p.Val199=)	Walker-Warburg congenital muscular dystrophy [RCV003756460]	likely benign	19	46756047	46756047	Human	1	name
405150869	CV3067253	single nucleotide variant	NM_024301.5(FKRP):c.987G>A (p.Val329=)	Walker-Warburg congenital muscular dystrophy [RCV003756319]	likely benign	19	46756437	46756437	Human	1	name
405151615	CV3068677	single nucleotide variant	NM_024301.5(FKRP):c.975C>G (p.Thr325=)	Walker-Warburg congenital muscular dystrophy [RCV003756384]	likely benign	19	46756425	46756425	Human	1	name
405154024	CV3074611	single nucleotide variant	NM_024301.5(FKRP):c.706C>T (p.Leu236=)	Walker-Warburg congenital muscular dystrophy [RCV003756587]	likely benign	19	46756156	46756156	Human	1	name
405152546	CV3078302	single nucleotide variant	NM_024301.5(FKRP):c.705G>C (p.Leu235=)	Walker-Warburg congenital muscular dystrophy [RCV003756465]	likely benign	19	46756155	46756155	Human	1	name
405134878	CV3115333	single nucleotide variant	NM_024301.5(FKRP):c.567C>G (p.Pro189=)	Walker-Warburg congenital muscular dystrophy [RCV003816178]	likely benign	19	46756017	46756017	Human	1	name
405019201	CV3129113	single nucleotide variant	NM_024301.5(FKRP):c.615C>A (p.Arg205=)	Walker-Warburg congenital muscular dystrophy [RCV003829676]	likely benign	19	46756065	46756065	Human	1	name
405013940	CV3138842	single nucleotide variant	NM_024301.5(FKRP):c.756C>T (p.His252=)	Cardiovascular phenotype [RCV004992892]\|Walker-Warburg congenital muscular dystrophy [RCV003829179]	likely benign	19	46756206	46756206	Human	1	name
405175295	CV3150621	single nucleotide variant	NM_024301.5(FKRP):c.702G>A (p.Gln234=)	Walker-Warburg congenital muscular dystrophy [RCV003841895]	likely benign	19	46756152	46756152	Human	1	name
402464293	CV3177006	single nucleotide variant	NM_024301.5(FKRP):c.810C>T (p.Arg270=)	Walker-Warburg congenital muscular dystrophy [RCV003872637]	likely benign	19	46756260	46756260	Human	1	name
405868783	CV3400602	single nucleotide variant	NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004576605]	likely pathogenic	19	46755528	46755528	Human	1	name
407502891	CV3435973	duplication	NM_024301.5(FKRP):c.109dup (p.Arg37fs)	Cardiovascular phenotype [RCV004623617]	likely pathogenic	19	46755556	46755557	Human		name
407502906	CV3435979	single nucleotide variant	NM_024301.5(FKRP):c.327C>T (p.Asp109=)	Cardiovascular phenotype [RCV004623623]	likely benign	19	46755777	46755777	Human		name
597732683	CV3666284	single nucleotide variant	NM_024301.5(FKRP):c.339A>G (p.Ala113=)	Cardiovascular phenotype [RCV004996863]	likely benign	19	46755789	46755789	Human		name
597732753	CV3666302	single nucleotide variant	NM_024301.5(FKRP):c.84G>T (p.Gln28His)	Cardiovascular phenotype [RCV004996879]	uncertain significance	19	46755534	46755534	Human		name
12839314	CV376622	single nucleotide variant	NM_024301.5(FKRP):c.399G>T (p.Ala133=)	not specified [RCV000428588]	likely benign	19	46755849	46755849	Human		name
597840431	CV3767678	single nucleotide variant	NM_024301.5(FKRP):c.855G>A (p.Glu285=)	Walker-Warburg congenital muscular dystrophy [RCV005114479]	likely benign	19	46756305	46756305	Human	1	name
12843943	CV377578	single nucleotide variant	NM_024301.5(FKRP):c.555C>T (p.Ala185=)	Walker-Warburg congenital muscular dystrophy [RCV000929262]\|not specified [RCV000437127]	likely benign	19	46756005	46756005	Human	1	name
12840481	CV377582	single nucleotide variant	NM_024301.5(FKRP):c.621C>T (p.Leu207=)	Cardiovascular phenotype [RCV002365518]\|Walker-Warburg congenital muscular dystrophy [RCV001491371]\|not specified [RCV000430795]	likely benign	19	46756071	46756071	Human	1	name
12840615	CV377586	single nucleotide variant	NM_024301.5(FKRP):c.651G>A (p.Pro217=)	Walker-Warburg congenital muscular dystrophy [RCV003591733]\|not specified [RCV000431051]	likely benign	19	46756101	46756101	Human	1	name
12837230	CV377783	single nucleotide variant	NM_024301.5(FKRP):c.573C>T (p.Cys191=)	Cardiovascular phenotype [RCV002348214]\|Walker-Warburg congenital muscular dystrophy [RCV001472799]\|not specified [RCV000424811]	likely benign	19	46756023	46756023	Human	1	name
12839000	CV377793	single nucleotide variant	NM_024301.5(FKRP):c.828A>G (p.Leu276=)	Cardiovascular phenotype [RCV002429369]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002488897]\|Walker-Warburg congenital muscular dystrophy [RCV000476018]\|not specified [RCV000428011]	likely benign\|uncertain significance	19	46756278	46756278	Human	5	name
597854852	CV3778999	single nucleotide variant	NM_024301.5(FKRP):c.678C>T (p.Thr226=)	Walker-Warburg congenital muscular dystrophy [RCV005129344]	likely benign	19	46756128	46756128	Human	1	name
597849215	CV3784301	single nucleotide variant	NM_024301.5(FKRP):c.990G>A (p.Val330=)	Walker-Warburg congenital muscular dystrophy [RCV005124589]	likely benign	19	46756440	46756440	Human	1	name
597870213	CV3792814	single nucleotide variant	NM_024301.5(FKRP):c.561C>A (p.Ala187=)	Walker-Warburg congenital muscular dystrophy [RCV005144950]	likely benign	19	46756011	46756011	Human	1	name
597878318	CV3804036	single nucleotide variant	NM_024301.5(FKRP):c.852G>T (p.Leu284=)	Walker-Warburg congenital muscular dystrophy [RCV005153582]	likely benign	19	46756302	46756302	Human	1	name
597901091	CV3834359	single nucleotide variant	NM_024301.5(FKRP):c.312C>G (p.Leu104=)	Walker-Warburg congenital muscular dystrophy [RCV005175726]	likely benign	19	46755762	46755762	Human	1	name
597932835	CV3858930	deletion	NM_024301.5(FKRP):c.245del (p.Ala82fs)	Walker-Warburg congenital muscular dystrophy [RCV005207651]	pathogenic	19	46755695	46755695	Human	1	name
12887396	CV403277	single nucleotide variant	NM_024301.5(FKRP):c.678C>G (p.Thr226=)	Walker-Warburg congenital muscular dystrophy [RCV002526480]	likely benign	19	46756128	46756128	Human	1	name
12887903	CV403320	single nucleotide variant	NM_024301.5(FKRP):c.351G>A (p.Pro117=)	Walker-Warburg congenital muscular dystrophy [RCV001439398]	likely benign	19	46755801	46755801	Human	1	name
12886781	CV403783	single nucleotide variant	NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001833578]\|Cardiovascular phenotype [RCV004992234]\|Walker-Warburg congenital muscular dystrophy [RCV000467867]\|not provided [RCV000594457]	uncertain significance	19	46755532	46755532	Human	2	name
13464716	CV468907	single nucleotide variant	NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272533]\|Cardiovascular phenotype [RCV002367797]\|Walker-Warburg congenital muscular dystrophy [RCV000543616]\|not provided [RCV000786132]	uncertain significance	19	46755487	46755487	Human	2	name
13466940	CV470334	deletion	NM_024301.5(FKRP):c.142del (p.Arg48fs)	Walker-Warburg congenital muscular dystrophy [RCV000553071]	pathogenic	19	46755588	46755588	Human	1	name
13465931	CV470342	single nucleotide variant	NM_024301.5(FKRP):c.456C>T (p.Ser152=)	Cardiovascular phenotype [RCV004023806]\|Walker-Warburg congenital muscular dystrophy [RCV000549041]\|not provided [RCV003409779]	likely benign	19	46755906	46755906	Human	1	name
13500288	CV470343	single nucleotide variant	NM_024301.5(FKRP):c.516C>T (p.Asn172=)	Cardiovascular phenotype [RCV002341284]\|Walker-Warburg congenital muscular dystrophy [RCV000536330]	likely benign	19	46755966	46755966	Human	1	name
13500750	CV470349	single nucleotide variant	NM_024301.5(FKRP):c.912G>A (p.Thr304=)	Walker-Warburg congenital muscular dystrophy [RCV000538200]	likely benign	19	46756362	46756362	Human	1	name
13468883	CV471033	single nucleotide variant	NM_024301.5(FKRP):c.474C>G (p.Ala158=)	Walker-Warburg congenital muscular dystrophy [RCV001489626]	likely benign	19	46755924	46755924	Human	1	name
13523791	CV490424	single nucleotide variant	NM_024301.5(FKRP):c.703C>T (p.Leu235=)	Cardiovascular phenotype [RCV002377231]\|Walker-Warburg congenital muscular dystrophy [RCV001405000]\|not provided [RCV000593445]\|not specified [RCV003994038]	likely benign\|uncertain significance	19	46756153	46756153	Human	1	name
13517228	CV491960	single nucleotide variant	NM_024301.5(FKRP):c.336C>T (p.Ala112=)	Cardiovascular phenotype [RCV002456306]\|Walker-Warburg congenital muscular dystrophy [RCV001464387]\|not provided [RCV000711661]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46755786	46755786	Human	1	name
13532984	CV506898	single nucleotide variant	NM_024301.5(FKRP):c.948C>T (p.Pro316=)	Cardiovascular phenotype [RCV003160080]\|Walker-Warburg congenital muscular dystrophy [RCV001395261]\|not provided [RCV001811096]\|not specified [RCV000601536]	likely benign	19	46756398	46756398	Human	1	name
13540770	CV507457	single nucleotide variant	NM_024301.5(FKRP):c.717C>T (p.Thr239=)	Cardiovascular phenotype [RCV002377265]\|FKRP-related disorder [RCV004530779]\|Walker-Warburg congenital muscular dystrophy [RCV000870090]\|not provided [RCV001697478]	likely benign	19	46756167	46756167	Human	1	name , alternate_id
13535303	CV507872	single nucleotide variant	NM_024301.5(FKRP):c.741G>A (p.Pro247=)	Walker-Warburg congenital muscular dystrophy [RCV001428180]\|not specified [RCV000602246]	likely benign	19	46756191	46756191	Human	1	name
13617313	CV533161	single nucleotide variant	NM_024301.5(FKRP):c.360C>T (p.Tyr120=)	Cardiovascular phenotype [RCV002458018]\|Walker-Warburg congenital muscular dystrophy [RCV001078953]\|not provided [RCV000840164]	likely benign\|drug response	19	46755810	46755810	Human	1	name
13617311	CV533166	single nucleotide variant	NM_024301.5(FKRP):c.597G>T (p.Val199=)	Walker-Warburg congenital muscular dystrophy [RCV000634087]	likely benign	19	46756047	46756047	Human	1	name
13617317	CV533609	single nucleotide variant	NM_024301.5(FKRP):c.582G>C (p.Leu194=)	Walker-Warburg congenital muscular dystrophy [RCV000634092]	likely benign	19	46756032	46756032	Human	1	name
13705594	CV536991	single nucleotide variant	NM_024301.5(FKRP):c.52C>T (p.Leu18Phe)	Walker-Warburg congenital muscular dystrophy [RCV001050758]\|not provided [RCV000658156]	uncertain significance	19	46755502	46755502	Human	1	name
13785424	CV548876	single nucleotide variant	NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000671994]\|not provided [RCV000732483]	pathogenic\|likely pathogenic	19	46755527	46755527	Human	1	name
13802905	CV570868	single nucleotide variant	NM_024301.5(FKRP):c.750G>A (p.Thr250=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275316]\|Cardiovascular phenotype [RCV002388289]\|Walker-Warburg congenital muscular dystrophy [RCV000698746]	likely benign\|uncertain significance	19	46756200	46756200	Human	2	name
14739948	CV648183	single nucleotide variant	NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825661]\|Cardiovascular phenotype [RCV002363165]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002495174]\|Walker-Warburg congenital muscular dystrophy [RCV000821581]	uncertain significance	19	46755518	46755518	Human	5	name
14711789	CV648188	single nucleotide variant	NM_024301.5(FKRP):c.477G>A (p.Pro159=)	Walker-Warburg congenital muscular dystrophy [RCV000793590]	likely benign\|uncertain significance	19	46755927	46755927	Human	1	name
14720865	CV656582	single nucleotide variant	NM_024301.5(FKRP):c.345G>A (p.Ser115=)	Walker-Warburg congenital muscular dystrophy [RCV003754887]\|not provided [RCV000831419]	likely benign	19	46755795	46755795	Human	1	name
14743306	CV656583	single nucleotide variant	NM_024301.5(FKRP):c.375T>C (p.Phe125=)	not provided [RCV000841962]	likely benign	19	46755825	46755825	Human		name
15145367	CV689106	single nucleotide variant	NM_024301.5(FKRP):c.750G>T (p.Thr250=)	Walker-Warburg congenital muscular dystrophy [RCV000866075]	likely benign	19	46756200	46756200	Human	1	name
15107870	CV694467	single nucleotide variant	NM_024301.5(FKRP):c.654G>A (p.Val218=)	Walker-Warburg congenital muscular dystrophy [RCV000871589]	likely benign	19	46756104	46756104	Human	1	name
15176821	CV705103	single nucleotide variant	NM_024301.5(FKRP):c.444C>T (p.Leu148=)	Walker-Warburg congenital muscular dystrophy [RCV000950911]	likely benign	19	46755894	46755894	Human	1	name
15150809	CV705104	single nucleotide variant	NM_024301.5(FKRP):c.537C>G (p.Thr179=)	Cardiovascular phenotype [RCV003307752]\|Walker-Warburg congenital muscular dystrophy [RCV000945567]\|not specified [RCV003994176]	likely benign	19	46755987	46755987	Human	1	name
15131461	CV742001	single nucleotide variant	NM_024301.5(FKRP):c.321C>T (p.Ala107=)	not provided [RCV000897779]	likely benign	19	46755771	46755771	Human		name
15181976	CV772757	single nucleotide variant	NM_024301.5(FKRP):c.312C>T (p.Leu104=)	Walker-Warburg congenital muscular dystrophy [RCV000930255]	likely benign	19	46755762	46755762	Human	1	name
15126721	CV772758	single nucleotide variant	NM_024301.5(FKRP):c.522C>T (p.Ser174=)	Walker-Warburg congenital muscular dystrophy [RCV001499771]	likely benign	19	46755972	46755972	Human	1	name
15097693	CV772759	single nucleotide variant	NM_024301.5(FKRP):c.526C>A (p.Arg176=)	Walker-Warburg congenital muscular dystrophy [RCV001401968]	likely benign	19	46755976	46755976	Human	1	name
15122043	CV772760	single nucleotide variant	NM_024301.5(FKRP):c.561C>G (p.Ala187=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001832147]\|Walker-Warburg congenital muscular dystrophy [RCV001395840]	likely benign	19	46756011	46756011	Human	2	name
15195931	CV772761	single nucleotide variant	NM_024301.5(FKRP):c.576C>T (p.Asp192=)	Walker-Warburg congenital muscular dystrophy [RCV002066133]	likely benign	19	46756026	46756026	Human	1	name
38473866	CV928995	single nucleotide variant	NM_024301.5(FKRP):c.32C>T (p.Ala11Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001836157]\|Cardiovascular phenotype [RCV002322038]\|Walker-Warburg congenital muscular dystrophy [RCV001214515]	uncertain significance	19	46755482	46755482	Human	2	name
38496210	CV950825	single nucleotide variant	NM_024301.5(FKRP):c.633G>A (p.Ser211=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828806]\|Cardiovascular phenotype [RCV004032565]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002484228]\|Walker-Warburg congenital muscular dystrophy [RCV001226232]	likely benign\|uncertain significance	19	46756083	46756083	Human	5	name
38460792	CV958659	single nucleotide variant	NM_024301.5(FKRP):c.59T>C (p.Val20Ala)	Walker-Warburg congenital muscular dystrophy [RCV001246809]\|not provided [RCV003145488]	uncertain significance	19	46755509	46755509	Human	1	name
38494598	CV958660	single nucleotide variant	NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828976]\|Walker-Warburg congenital muscular dystrophy [RCV001241408]\|not provided [RCV003145464]	uncertain significance	19	46755533	46755533	Human	2	name
38493763	CV958667	single nucleotide variant	NM_024301.5(FKRP):c.777C>T (p.Arg259=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828961]\|Cardiovascular phenotype [RCV003294133]\|Walker-Warburg congenital muscular dystrophy [RCV001240877]	likely benign\|uncertain significance	19	46756227	46756227	Human	2	name
40906040	CV979991	single nucleotide variant	NM_024301.5(FKRP):c.849G>A (p.Arg283=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001279355]\|Cardiovascular phenotype [RCV002447247]\|Walker-Warburg congenital muscular dystrophy [RCV002069458]	likely benign\|uncertain significance	19	46756299	46756299	Human	2	name
126759475	CV998657	single nucleotide variant	NM_024301.5(FKRP):c.44C>T (p.Thr15Ile)	Walker-Warburg congenital muscular dystrophy [RCV001309029]	uncertain significance	19	46755494	46755494	Human	1	name
126767408	CV1013785	single nucleotide variant	NM_024301.5(FKRP):c.142C>A (p.Arg48Ser)	Walker-Warburg congenital muscular dystrophy [RCV001320835]	uncertain significance	19	46755592	46755592	Human	1	name
126772770	CV1013796	single nucleotide variant	NM_024301.5(FKRP):c.1407G>A (p.Leu469=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830983]\|Cardiovascular phenotype [RCV002395710]\|Walker-Warburg congenital muscular dystrophy [RCV001323945]	likely benign\|uncertain significance	19	46756857	46756857	Human	2	name
8643018	CV102000	single nucleotide variant	NM_024301.5(FKRP):c.1440C>T (p.Asn480=)	Cardiovascular phenotype [RCV002390243]\|Walker-Warburg congenital muscular dystrophy [RCV000465660]\|not provided [RCV001704005]\|not specified [RCV000082173]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	46756890	46756890	Human	1	name
126774949	CV1034354	single nucleotide variant	NM_024301.5(FKRP):c.104G>A (p.Arg35Gln)	Cardiovascular phenotype [RCV005340825]\|Walker-Warburg congenital muscular dystrophy [RCV001347816]	uncertain significance	19	46755554	46755554	Human	1	name
126738912	CV1034357	single nucleotide variant	NM_024301.5(FKRP):c.274G>T (p.Ala92Ser)	Cardiovascular phenotype [RCV005340826]\|Walker-Warburg congenital muscular dystrophy [RCV001350541]	uncertain significance	19	46755724	46755724	Human	1	name
127255827	CV1056587	single nucleotide variant	NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001826153]\|Cardiovascular phenotype [RCV002447504]\|Walker-Warburg congenital muscular dystrophy [RCV001379447]	pathogenic\|likely pathogenic	19	46755679	46755679	Human	2	name
127261476	CV1064732	duplication	NM_024301.5(FKRP):c.515dup (p.Asn172fs)	Walker-Warburg congenital muscular dystrophy [RCV001380523]	pathogenic	19	46755963	46755964	Human	1	name
127269297	CV1064734	duplication	NM_024301.5(FKRP):c.661dup (p.Ser221fs)	Walker-Warburg congenital muscular dystrophy [RCV001389478]	pathogenic	19	46756110	46756111	Human	1	name
127247026	CV1064735	deletion	NM_024301.5(FKRP):c.919del (p.Tyr307fs)	Walker-Warburg congenital muscular dystrophy [RCV001384655]	pathogenic	19	46756369	46756369	Human	1	name
127272626	CV1064737	duplication	NM_024301.5(FKRP):c.979dup (p.Arg327fs)	Walker-Warburg congenital muscular dystrophy [RCV001390523]	pathogenic	19	46756426	46756427	Human	1	name
127235201	CV1084860	single nucleotide variant	NM_024301.5(FKRP):c.1008G>T (p.Ala336=)	Walker-Warburg congenital muscular dystrophy [RCV001414386]	likely benign	19	46756458	46756458	Human	1	name
127274013	CV1084861	single nucleotide variant	NM_024301.5(FKRP):c.1039C>T (p.Leu347=)	Walker-Warburg congenital muscular dystrophy [RCV001406217]	likely benign	19	46756489	46756489	Human	1	name
127240060	CV1084862	single nucleotide variant	NM_024301.5(FKRP):c.1050C>T (p.Ala350=)	Walker-Warburg congenital muscular dystrophy [RCV001415484]	likely benign	19	46756500	46756500	Human	1	name
127264722	CV1084863	single nucleotide variant	NM_024301.5(FKRP):c.1287G>A (p.Lys429=)	Walker-Warburg congenital muscular dystrophy [RCV001403396]	likely benign	19	46756737	46756737	Human	1	name
127274970	CV1084864	single nucleotide variant	NM_024301.5(FKRP):c.1449C>T (p.Tyr483=)	Walker-Warburg congenital muscular dystrophy [RCV001406561]	likely benign	19	46756899	46756899	Human	1	name
127258343	CV1106606	single nucleotide variant	NM_024301.5(FKRP):c.1132C>T (p.Leu378=)	Cardiovascular phenotype [RCV004616730]\|Walker-Warburg congenital muscular dystrophy [RCV001438100]	likely benign	19	46756582	46756582	Human	1	name
127236704	CV1106607	single nucleotide variant	NM_024301.5(FKRP):c.1149C>T (p.Ala383=)	Walker-Warburg congenital muscular dystrophy [RCV001422578]	likely benign	19	46756599	46756599	Human	1	name
127241032	CV1106608	single nucleotide variant	NM_024301.5(FKRP):c.1191G>C (p.Ala397=)	Walker-Warburg congenital muscular dystrophy [RCV001423487]	likely benign	19	46756641	46756641	Human	1	name
127254220	CV1106609	single nucleotide variant	NM_024301.5(FKRP):c.1218G>A (p.Gln406=)	Walker-Warburg congenital muscular dystrophy [RCV001426260]	likely benign	19	46756668	46756668	Human	1	name
127238227	CV1106610	single nucleotide variant	NM_024301.5(FKRP):c.1263C>T (p.Tyr421=)	Cardiovascular phenotype [RCV002449173]\|Walker-Warburg congenital muscular dystrophy [RCV001433719]	likely benign	19	46756713	46756713	Human	1	name
127233757	CV1106611	single nucleotide variant	NM_024301.5(FKRP):c.1305C>T (p.His435=)	Walker-Warburg congenital muscular dystrophy [RCV001421863]	likely benign	19	46756755	46756755	Human	1	name
127237289	CV1106612	single nucleotide variant	NM_024301.5(FKRP):c.1332C>T (p.His444=)	Walker-Warburg congenital muscular dystrophy [RCV001433509]	likely benign	19	46756782	46756782	Human	1	name
127258810	CV1106613	single nucleotide variant	NM_024301.5(FKRP):c.1377G>C (p.Ala459=)	Walker-Warburg congenital muscular dystrophy [RCV001427454]	likely benign	19	46756827	46756827	Human	1	name
127276953	CV1106614	single nucleotide variant	NM_024301.5(FKRP):c.1482C>T (p.Ser494=)	Cardiovascular phenotype [RCV004616732]\|Walker-Warburg congenital muscular dystrophy [RCV001444121]	likely benign	19	46756932	46756932	Human	1	name
127335356	CV1127988	single nucleotide variant	NM_024301.5(FKRP):c.1032C>T (p.Gly344=)	Cardiovascular phenotype [RCV005340972]\|Walker-Warburg congenital muscular dystrophy [RCV001474229]	likely benign	19	46756482	46756482	Human	1	name
127330225	CV1127989	single nucleotide variant	NM_024301.5(FKRP):c.1059C>T (p.His353=)	Cardiovascular phenotype [RCV002405103]\|Walker-Warburg congenital muscular dystrophy [RCV001470750]	likely benign	19	46756509	46756509	Human	1	name
127299899	CV1127990	single nucleotide variant	NM_024301.5(FKRP):c.1101C>T (p.Ile367=)	Walker-Warburg congenital muscular dystrophy [RCV001478309]	likely benign	19	46756551	46756551	Human	1	name
127324204	CV1127991	single nucleotide variant	NM_024301.5(FKRP):c.1140G>T (p.Gly380=)	Walker-Warburg congenital muscular dystrophy [RCV001468147]	likely benign	19	46756590	46756590	Human	1	name
127309811	CV1127992	single nucleotide variant	NM_024301.5(FKRP):c.1164T>C (p.Asp388=)	Cardiovascular phenotype [RCV004995857]\|Walker-Warburg congenital muscular dystrophy [RCV001463719]	likely benign	19	46756614	46756614	Human	1	name
127331972	CV1127993	single nucleotide variant	NM_024301.5(FKRP):c.1191G>A (p.Ala397=)	Walker-Warburg congenital muscular dystrophy [RCV001471891]	likely benign	19	46756641	46756641	Human	1	name
127299044	CV1127994	single nucleotide variant	NM_024301.5(FKRP):c.1299G>C (p.Leu433=)	Walker-Warburg congenital muscular dystrophy [RCV001460696]	likely benign	19	46756749	46756749	Human	1	name
127312803	CV1127995	single nucleotide variant	NM_024301.5(FKRP):c.1336C>T (p.Leu446=)	Walker-Warburg congenital muscular dystrophy [RCV001464537]	likely benign	19	46756786	46756786	Human	1	name
127301198	CV1127996	single nucleotide variant	NM_024301.5(FKRP):c.1338G>A (p.Leu446=)	Walker-Warburg congenital muscular dystrophy [RCV001461321]	likely benign	19	46756788	46756788	Human	1	name
127324233	CV1127997	single nucleotide variant	NM_024301.5(FKRP):c.1383G>C (p.Ala461=)	Walker-Warburg congenital muscular dystrophy [RCV001468155]	likely benign	19	46756833	46756833	Human	1	name
127297695	CV1127998	single nucleotide variant	NM_024301.5(FKRP):c.1458G>A (p.Pro486=)	Walker-Warburg congenital muscular dystrophy [RCV001477678]	likely benign	19	46756908	46756908	Human	1	name
127328899	CV1148954	single nucleotide variant	NM_024301.5(FKRP):c.1086C>T (p.Asp362=)	Cardiovascular phenotype [RCV004995895]\|Walker-Warburg congenital muscular dystrophy [RCV001487052]	likely benign	19	46756536	46756536	Human	1	name
127319598	CV1148955	single nucleotide variant	NM_024301.5(FKRP):c.1134G>A (p.Leu378=)	Cardiovascular phenotype [RCV004616741]\|Walker-Warburg congenital muscular dystrophy [RCV001483933]	likely benign	19	46756584	46756584	Human	1	name
127331579	CV1148956	single nucleotide variant	NM_024301.5(FKRP):c.1158G>C (p.Val386=)	Cardiovascular phenotype [RCV002359098]\|Walker-Warburg congenital muscular dystrophy [RCV001488903]	likely benign	19	46756608	46756608	Human	1	name
127286881	CV1148957	single nucleotide variant	NM_024301.5(FKRP):c.1197G>A (p.Glu399=)	Walker-Warburg congenital muscular dystrophy [RCV001494606]	likely benign	19	46756647	46756647	Human	1	name
127337441	CV1148958	single nucleotide variant	NM_024301.5(FKRP):c.1203C>T (p.Asp401=)	Walker-Warburg congenital muscular dystrophy [RCV001492849]	likely benign	19	46756653	46756653	Human	1	name
127291172	CV1148959	single nucleotide variant	NM_024301.5(FKRP):c.1419C>T (p.Phe473=)	Walker-Warburg congenital muscular dystrophy [RCV001496159]	likely benign	19	46756869	46756869	Human	1	name
127303810	CV1148960	single nucleotide variant	NM_024301.5(FKRP):c.1443C>T (p.Pro481=)	Walker-Warburg congenital muscular dystrophy [RCV001499486]	likely benign	19	46756893	46756893	Human	1	name
127287700	CV1148961	single nucleotide variant	NM_024301.5(FKRP):c.1461A>G (p.Ala487=)	Cardiovascular phenotype [RCV002388525]\|Walker-Warburg congenital muscular dystrophy [RCV001494983]	likely benign	19	46756911	46756911	Human	1	name
127287539	CV1152847	single nucleotide variant	NM_024301.5(FKRP):c.283C>T (p.Arg95Cys)	Cardiovascular phenotype [RCV003161035]\|Walker-Warburg congenital muscular dystrophy [RCV002567982]\|not provided [RCV001507961]	uncertain significance	19	46755733	46755733	Human	1	name
150404292	CV1189372	single nucleotide variant	NM_024301.5(FKRP):c.119G>A (p.Arg40His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001563922]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001563920]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001563921]	uncertain significance	19	46755569	46755569	Human	3	name
150556506	CV1303198	single nucleotide variant	NM_024301.5(FKRP):c.203A>C (p.Asp68Ala)	Walker-Warburg congenital muscular dystrophy [RCV001868573]\|not provided [RCV001774391]	uncertain significance	19	46755653	46755653	Human	1	name
151853936	CV1344230	single nucleotide variant	NM_024301.5(FKRP):c.115C>T (p.Pro39Ser)	Walker-Warburg congenital muscular dystrophy [RCV001923157]	uncertain significance	19	46755565	46755565	Human	1	name
151857175	CV1347991	single nucleotide variant	NM_024301.5(FKRP):c.122G>A (p.Arg41His)	Cardiovascular phenotype [RCV004044593]\|Walker-Warburg congenital muscular dystrophy [RCV001979668]	uncertain significance	19	46755572	46755572	Human	1	name
151782385	CV1381474	single nucleotide variant	NM_024301.5(FKRP):c.251A>G (p.Asp84Gly)	Walker-Warburg congenital muscular dystrophy [RCV001875482]	uncertain significance	19	46755701	46755701	Human	1	name
151743539	CV1385842	single nucleotide variant	NM_024301.5(FKRP):c.188T>C (p.Val63Ala)	Walker-Warburg congenital muscular dystrophy [RCV002042478]	uncertain significance	19	46755638	46755638	Human	1	name
151809884	CV1393282	single nucleotide variant	NM_024301.5(FKRP):c.1272T>C (p.Asn424=)	Cardiovascular phenotype [RCV004996156]\|Walker-Warburg congenital muscular dystrophy [RCV001953709]	likely benign	19	46756722	46756722	Human	1	name
151889230	CV1398736	single nucleotide variant	NM_024301.5(FKRP):c.230A>G (p.Gln77Arg)	Walker-Warburg congenital muscular dystrophy [RCV001942756]	uncertain significance	19	46755680	46755680	Human	1	name
151824669	CV1404127	single nucleotide variant	NM_024301.5(FKRP):c.235G>C (p.Val79Leu)	Walker-Warburg congenital muscular dystrophy [RCV001976072]	uncertain significance	19	46755685	46755685	Human	1	name
151837354	CV1416956	single nucleotide variant	NM_024301.5(FKRP):c.163G>A (p.Glu55Lys)	Walker-Warburg congenital muscular dystrophy [RCV002014936]	uncertain significance	19	46755613	46755613	Human	1	name
151781803	CV1422168	single nucleotide variant	NM_024301.5(FKRP):c.101C>T (p.Ser34Phe)	Cardiovascular phenotype [RCV004996132]\|Walker-Warburg congenital muscular dystrophy [RCV001972148]	uncertain significance	19	46755551	46755551	Human	1	name
151807029	CV1426329	single nucleotide variant	NM_024301.5(FKRP):c.121C>A (p.Arg41Ser)	Walker-Warburg congenital muscular dystrophy [RCV001974430]	uncertain significance	19	46755571	46755571	Human	1	name
151775727	CV1427492	single nucleotide variant	NM_024301.5(FKRP):c.110G>A (p.Arg37Gln)	Cardiovascular phenotype [RCV005341106]\|Walker-Warburg congenital muscular dystrophy [RCV001864495]	uncertain significance	19	46755560	46755560	Human	1	name
151832096	CV1439112	single nucleotide variant	NM_024301.5(FKRP):c.218A>G (p.Gln73Arg)	Walker-Warburg congenital muscular dystrophy [RCV001976747]	uncertain significance	19	46755668	46755668	Human	1	name
151887255	CV1441575	single nucleotide variant	NM_024301.5(FKRP):c.151G>T (p.Val51Phe)	Walker-Warburg congenital muscular dystrophy [RCV001962936]	pathogenic	19	46755601	46755601	Human	1	name
151832296	CV1459704	single nucleotide variant	NM_024301.5(FKRP):c.292A>T (p.Asn98Tyr)	Walker-Warburg congenital muscular dystrophy [RCV002050840]	uncertain significance	19	46755742	46755742	Human	1	name
151814584	CV1463031	single nucleotide variant	NM_024301.5(FKRP):c.161G>A (p.Arg54Gln)	Walker-Warburg congenital muscular dystrophy [RCV002049182]	likely pathogenic	19	46755611	46755611	Human	1	name
151770726	CV1477357	single nucleotide variant	NM_024301.5(FKRP):c.236T>C (p.Val79Ala)	Cardiovascular phenotype [RCV004041907]\|Walker-Warburg congenital muscular dystrophy [RCV001950128]	uncertain significance	19	46755686	46755686	Human	1	name
151828270	CV1489079	duplication	NM_024301.5(FKRP):c.650dup (p.Val218fs)	Walker-Warburg congenital muscular dystrophy [RCV001934804]	pathogenic	19	46756098	46756099	Human	1	name
151864583	CV1498786	single nucleotide variant	NM_024301.5(FKRP):c.281C>A (p.Pro94His)	Walker-Warburg congenital muscular dystrophy [RCV001980558]\|not provided [RCV003146455]	uncertain significance	19	46755731	46755731	Human	1	name
151736232	CV1507136	single nucleotide variant	NM_024301.5(FKRP):c.103C>T (p.Arg35Trp)	Walker-Warburg congenital muscular dystrophy [RCV001984748]	uncertain significance	19	46755553	46755553	Human	1	name
152160175	CV1522800	single nucleotide variant	NM_024301.5(FKRP):c.1026C>A (p.Leu342=)	Walker-Warburg congenital muscular dystrophy [RCV002140784]	likely benign	19	46756476	46756476	Human	1	name
152115867	CV1526360	single nucleotide variant	NM_024301.5(FKRP):c.1047G>A (p.Gly349=)	Cardiovascular phenotype [RCV002398162]\|Walker-Warburg congenital muscular dystrophy [RCV002174918]	likely benign	19	46756497	46756497	Human	1	name
152033424	CV1542683	single nucleotide variant	NM_024301.5(FKRP):c.1131G>A (p.Gln377=)	Walker-Warburg congenital muscular dystrophy [RCV002106568]	likely benign	19	46756581	46756581	Human	1	name
152035615	CV1553009	single nucleotide variant	NM_024301.5(FKRP):c.1032C>A (p.Gly344=)	Walker-Warburg congenital muscular dystrophy [RCV002187437]	likely benign	19	46756482	46756482	Human	1	name
152124490	CV1553882	single nucleotide variant	NM_024301.5(FKRP):c.1143A>C (p.Ala381=)	Cardiovascular phenotype [RCV004990650]\|Walker-Warburg congenital muscular dystrophy [RCV002098619]	likely benign	19	46756593	46756593	Human	1	name
152092669	CV1571276	single nucleotide variant	NM_024301.5(FKRP):c.1422G>A (p.Gly474=)	Walker-Warburg congenital muscular dystrophy [RCV002150792]	likely benign	19	46756872	46756872	Human	1	name
152119096	CV1575958	single nucleotide variant	NM_024301.5(FKRP):c.1249C>T (p.Leu417=)	Walker-Warburg congenital muscular dystrophy [RCV002197801]	likely benign	19	46756699	46756699	Human	1	name
152047767	CV1580485	single nucleotide variant	NM_024301.5(FKRP):c.1386T>C (p.Pro462=)	Walker-Warburg congenital muscular dystrophy [RCV002166472]	likely benign	19	46756836	46756836	Human	1	name
152043914	CV1584096	single nucleotide variant	NM_024301.5(FKRP):c.1344G>T (p.Pro448=)	Cardiovascular phenotype [RCV004990592]\|Walker-Warburg congenital muscular dystrophy [RCV002071372]	likely benign	19	46756794	46756794	Human	1	name
152131196	CV1585618	single nucleotide variant	NM_024301.5(FKRP):c.1038A>G (p.Ser346=)	Cardiovascular phenotype [RCV004990675]\|Walker-Warburg congenital muscular dystrophy [RCV002155561]	likely benign	19	46756488	46756488	Human	1	name
152160052	CV1590131	single nucleotide variant	NM_024301.5(FKRP):c.1458G>C (p.Pro486=)	Cardiovascular phenotype [RCV002391351]\|Walker-Warburg congenital muscular dystrophy [RCV002203271]	likely benign	19	46756908	46756908	Human	1	name
152143956	CV1596866	single nucleotide variant	NM_024301.5(FKRP):c.1344G>C (p.Pro448=)	Walker-Warburg congenital muscular dystrophy [RCV002157144]	likely benign	19	46756794	46756794	Human	1	name
152130994	CV1597934	single nucleotide variant	NM_024301.5(FKRP):c.1365C>T (p.Ala455=)	Walker-Warburg congenital muscular dystrophy [RCV002176799]	likely benign	19	46756815	46756815	Human	1	name
152094105	CV1609265	single nucleotide variant	NM_024301.5(FKRP):c.1345C>T (p.Leu449=)	Walker-Warburg congenital muscular dystrophy [RCV002172222]	likely benign	19	46756795	46756795	Human	1	name
152114664	CV1612549	single nucleotide variant	NM_024301.5(FKRP):c.1344G>A (p.Pro448=)	Walker-Warburg congenital muscular dystrophy [RCV002174771]	likely benign	19	46756794	46756794	Human	1	name
152105860	CV1614768	single nucleotide variant	NM_024301.5(FKRP):c.1014G>C (p.Val338=)	Walker-Warburg congenital muscular dystrophy [RCV002079600]	likely benign	19	46756464	46756464	Human	1	name
152074190	CV1615603	single nucleotide variant	NM_024301.5(FKRP):c.1140G>C (p.Gly380=)	Cardiovascular phenotype [RCV004990689]\|Walker-Warburg congenital muscular dystrophy [RCV002092001]	likely benign	19	46756590	46756590	Human	1	name
152043663	CV1624431	single nucleotide variant	NM_024301.5(FKRP):c.1362T>C (p.Phe454=)	Walker-Warburg congenital muscular dystrophy [RCV002126410]	likely benign	19	46756812	46756812	Human	1	name
152141700	CV1628988	single nucleotide variant	NM_024301.5(FKRP):c.1377G>T (p.Ala459=)	Walker-Warburg congenital muscular dystrophy [RCV002100865]	likely benign	19	46756827	46756827	Human	1	name
152098100	CV1639798	single nucleotide variant	NM_024301.5(FKRP):c.1242C>T (p.His414=)	Walker-Warburg congenital muscular dystrophy [RCV002078622]	likely benign	19	46756692	46756692	Human	1	name
152123046	CV1641052	single nucleotide variant	NM_024301.5(FKRP):c.1011C>A (p.Gly337=)	Cardiovascular phenotype [RCV004990645]\|Walker-Warburg congenital muscular dystrophy [RCV002098427]	likely benign	19	46756461	46756461	Human	1	name
152044291	CV1643327	single nucleotide variant	NM_024301.5(FKRP):c.1065C>T (p.Asp355=)	Walker-Warburg congenital muscular dystrophy [RCV002206739]	likely benign	19	46756515	46756515	Human	1	name
155737991	CV1831837	single nucleotide variant	NM_024301.5(FKRP):c.180C>G (p.Asp60Glu)	Cardiovascular phenotype [RCV002410134]\|Walker-Warburg congenital muscular dystrophy [RCV003097263]	uncertain significance	19	46755630	46755630	Human	1	name
155699904	CV1844309	single nucleotide variant	NM_024301.5(FKRP):c.223C>G (p.Pro75Ala)	Cardiovascular phenotype [RCV002428344]	uncertain significance	19	46755673	46755673	Human		name
155671124	CV1853944	single nucleotide variant	NM_024301.5(FKRP):c.272T>A (p.Leu91Gln)	Cardiovascular phenotype [RCV002453235]	uncertain significance	19	46755722	46755722	Human		name
156182037	CV1868461	single nucleotide variant	NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)	Walker-Warburg congenital muscular dystrophy [RCV003041375]	likely pathogenic	19	46755610	46755610	Human	1	name
155937718	CV1868462	single nucleotide variant	NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)	Walker-Warburg congenital muscular dystrophy [RCV002569429]\|not specified [RCV002510258]	uncertain significance	19	46755730	46755730	Human	1	name
155945774	CV1875486	single nucleotide variant	NM_024301.5(FKRP):c.1314T>C (p.Asp438=)	Walker-Warburg congenital muscular dystrophy [RCV003073836]	likely benign	19	46756764	46756764	Human	1	name
156402790	CV1885492	single nucleotide variant	NM_024301.5(FKRP):c.1416G>A (p.Lys472=)	Walker-Warburg congenital muscular dystrophy [RCV003069330]	likely benign	19	46756866	46756866	Human	1	name
156030009	CV1893542	single nucleotide variant	NM_024301.5(FKRP):c.293A>G (p.Asn98Ser)	Walker-Warburg congenital muscular dystrophy [RCV003078055]	uncertain significance	19	46755743	46755743	Human	1	name
156343641	CV1907481	single nucleotide variant	NM_024301.5(FKRP):c.1062G>A (p.Gly354=)	Walker-Warburg congenital muscular dystrophy [RCV003090508]	likely benign	19	46756512	46756512	Human	1	name
155955924	CV1915417	single nucleotide variant	NM_024301.5(FKRP):c.118C>A (p.Arg40Ser)	Cardiovascular phenotype [RCV004621737]\|Walker-Warburg congenital muscular dystrophy [RCV002616475]	uncertain significance	19	46755568	46755568	Human	1	name
155934713	CV1916296	single nucleotide variant	NM_024301.5(FKRP):c.205T>G (p.Ser69Ala)	Walker-Warburg congenital muscular dystrophy [RCV002615220]	uncertain significance	19	46755655	46755655	Human	1	name
156036991	CV1918302	single nucleotide variant	NM_024301.5(FKRP):c.1269C>A (p.Arg423=)	Walker-Warburg congenital muscular dystrophy [RCV002620093]	likely benign	19	46756719	46756719	Human	1	name
8596355	CV19267	single nucleotide variant	NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	Autosomal recessive limb-girdle muscular dystrophy [RCV004700187]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004449]\|Walker-Warburg congenital muscular dystrophy [RCV003591622]	pathogenic\|likely pathogenic	19	46755610	46755610	Human	3	name
8596356	CV19268	single nucleotide variant	NM_024301.5(FKRP):c.235G>A (p.Val79Met)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004450]\|Cardiovascular phenotype [RCV002444421]\|Walker-Warburg congenital muscular dystrophy [RCV001083979]\|not provided [RCV000513718]\|not specified [RCV000236146]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	19	46755685	46755685	Human	2	name
156124620	CV1930336	duplication	NM_024301.5(FKRP):c.797dup (p.Ala267fs)	Walker-Warburg congenital muscular dystrophy [RCV002640462]	pathogenic	19	46756246	46756247	Human	1	name
156223085	CV1934360	single nucleotide variant	NM_024301.5(FKRP):c.151G>C (p.Val51Leu)	Cardiovascular phenotype [RCV003294596]\|Walker-Warburg congenital muscular dystrophy [RCV002644489]	uncertain significance	19	46755601	46755601	Human	1	name
10048747	CV194511	single nucleotide variant	NM_024301.5(FKRP):c.1179A>G (p.Val393=)	Cardiovascular phenotype [RCV002336437]\|FKRP-related disorder [RCV004537462]\|Walker-Warburg congenital muscular dystrophy [RCV001086801]\|not provided [RCV000711659]\|not specified [RCV000178362]	benign\|likely benign	19	46756629	46756629	Human	1	name , alternate_id
156434131	CV1946853	single nucleotide variant	NM_024301.5(FKRP):c.1029G>A (p.Glu343=)	Walker-Warburg congenital muscular dystrophy [RCV003104314]	likely benign	19	46756479	46756479	Human	1	name
156393023	CV1965100	single nucleotide variant	NM_024301.5(FKRP):c.1413C>A (p.Leu471=)	Walker-Warburg congenital muscular dystrophy [RCV002584056]	likely benign	19	46756863	46756863	Human	1	name
156383302	CV1975353	deletion	NM_024301.5(FKRP):c.949del (p.Cys317fs)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005019275]\|Walker-Warburg congenital muscular dystrophy [RCV002604120]	pathogenic\|likely pathogenic	19	46756399	46756399	Human	2	name
156007473	CV1989438	single nucleotide variant	NM_024301.5(FKRP):c.1455C>T (p.Asn485=)	Walker-Warburg congenital muscular dystrophy [RCV002636051]	likely benign	19	46756905	46756905	Human	1	name
156017034	CV2010419	single nucleotide variant	NM_024301.5(FKRP):c.1083C>T (p.Tyr361=)	Walker-Warburg congenital muscular dystrophy [RCV002735194]	likely benign	19	46756533	46756533	Human	1	name
156123436	CV2012208	single nucleotide variant	NM_024301.5(FKRP):c.1146G>A (p.Glu382=)	Cardiovascular phenotype [RCV004990841]\|Walker-Warburg congenital muscular dystrophy [RCV002696127]	likely benign	19	46756596	46756596	Human	1	name
156201618	CV2021248	single nucleotide variant	NM_024301.5(FKRP):c.211C>A (p.Leu71Met)	Walker-Warburg congenital muscular dystrophy [RCV002711419]	uncertain significance	19	46755661	46755661	Human	1	name
156207492	CV2021540	single nucleotide variant	NM_024301.5(FKRP):c.1158G>T (p.Val386=)	Walker-Warburg congenital muscular dystrophy [RCV002711634]	likely benign	19	46756608	46756608	Human	1	name
156202462	CV2034797	single nucleotide variant	NM_024301.5(FKRP):c.1353C>T (p.Pro451=)	Walker-Warburg congenital muscular dystrophy [RCV002766291]\|not specified [RCV003491148]	likely benign	19	46756803	46756803	Human	1	name
156194481	CV2038158	single nucleotide variant	NM_024301.5(FKRP):c.1326C>T (p.Pro442=)	Cardiovascular phenotype [RCV003274019]\|Walker-Warburg congenital muscular dystrophy [RCV002766016]	likely benign	19	46756776	46756776	Human	1	name
156328468	CV2050466	single nucleotide variant	NM_024301.5(FKRP):c.1098C>T (p.Gly366=)	Walker-Warburg congenital muscular dystrophy [RCV002810535]	likely benign	19	46756548	46756548	Human	1	name
156223824	CV2080996	single nucleotide variant	NM_024301.5(FKRP):c.1389C>T (p.Asn463=)	Walker-Warburg congenital muscular dystrophy [RCV002853311]	likely benign	19	46756839	46756839	Human	1	name
10404284	CV208612	single nucleotide variant	NM_024301.5(FKRP):c.1140G>A (p.Gly380=)	Cardiovascular phenotype [RCV002453706]\|Walker-Warburg congenital muscular dystrophy [RCV001087598]\|not provided [RCV000725091]\|not specified [RCV000194696]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756590	46756590	Human	1	name
156218707	CV2087485	duplication	NM_024301.5(FKRP):c.897dup (p.Val300fs)	Walker-Warburg congenital muscular dystrophy [RCV002875781]	pathogenic	19	46756345	46756346	Human	1	name
155988965	CV2101899	single nucleotide variant	NM_024301.5(FKRP):c.1365C>G (p.Ala455=)	Walker-Warburg congenital muscular dystrophy [RCV002908064]	likely benign	19	46756815	46756815	Human	1	name
156237980	CV2119250	single nucleotide variant	NM_024301.5(FKRP):c.157G>A (p.Val53Met)	Walker-Warburg congenital muscular dystrophy [RCV002958764]	uncertain significance	19	46755607	46755607	Human	1	name
156150054	CV2131684	single nucleotide variant	NM_024301.5(FKRP):c.1170C>T (p.Arg390=)	Walker-Warburg congenital muscular dystrophy [RCV002982620]	likely benign	19	46756620	46756620	Human	1	name
156093046	CV2143094	single nucleotide variant	NM_024301.5(FKRP):c.1383G>A (p.Ala461=)	Walker-Warburg congenital muscular dystrophy [RCV002979683]	likely benign	19	46756833	46756833	Human	1	name
156146689	CV2160615	single nucleotide variant	NM_024301.5(FKRP):c.1119C>T (p.Gly373=)	Walker-Warburg congenital muscular dystrophy [RCV003022711]	likely benign	19	46756569	46756569	Human	1	name
156129129	CV2184923	duplication	NM_024301.5(FKRP):c.835dup (p.Trp279fs)	Walker-Warburg congenital muscular dystrophy [RCV003039625]	pathogenic	19	46756284	46756285	Human	1	name
156300010	CV2191438	single nucleotide variant	NM_024301.5(FKRP):c.1404C>T (p.Phe468=)	Walker-Warburg congenital muscular dystrophy [RCV003061916]	likely benign	19	46756854	46756854	Human	1	name
329372029	CV2423649	single nucleotide variant	NM_024301.5(FKRP):c.100T>A (p.Ser34Thr)	Cardiovascular phenotype [RCV003172573]	uncertain significance	19	46755550	46755550	Human		name
11346210	CV243358	single nucleotide variant	NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)	Cardiovascular phenotype [RCV002379025]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002494659]\|Walker-Warburg congenital muscular dystrophy [RCV001082599]\|not provided [RCV000711658]\|not specified [RCV000243564]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	46756470	46756470	Human	5	name
11547860	CV257158	single nucleotide variant	NM_024301.5(FKRP):c.1056C>T (p.Arg352=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000668941]\|Cardiovascular phenotype [RCV003278726]\|Walker-Warburg congenital muscular dystrophy [RCV002518654]\|not specified [RCV000248317]	likely benign	19	46756506	46756506	Human	2	name
11638812	CV267542	single nucleotide variant	NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)	Autosomal recessive limb-girdle muscular dystrophy [RCV005238827]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272535]\|Walker-Warburg congenital muscular dystrophy [RCV000634051]\|not provided [RCV000308811]	pathogenic\|likely pathogenic\|uncertain significance	19	46755619	46755619	Human	3	name
11641663	CV268719	single nucleotide variant	NM_024301.5(FKRP):c.151G>A (p.Val51Ile)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275308]\|Walker-Warburg congenital muscular dystrophy [RCV000475956]\|not provided [RCV000359216]	uncertain significance	19	46755601	46755601	Human	2	name
11633545	CV271954	deletion	NM_024301.5(FKRP):c.675del (p.Thr226fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000673066]\|Walker-Warburg congenital muscular dystrophy [RCV001218316]\|not provided [RCV000346543]	pathogenic\|likely pathogenic	19	46756125	46756125	Human	2	name
11640935	CV273590	single nucleotide variant	NM_024301.5(FKRP):c.1383G>T (p.Ala461=)	Walker-Warburg congenital muscular dystrophy [RCV001086774]\|not provided [RCV000346836]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756833	46756833	Human	1	name
401941261	CV2835821	deletion	NM_024301.5(FKRP):c.632del (p.Ser211fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461577]	likely pathogenic	19	46756082	46756082	Human	1	name
401942649	CV2835826	single nucleotide variant	NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003468201]\|Walker-Warburg congenital muscular dystrophy [RCV003755044]	pathogenic	19	46755667	46755667	Human	2	name
401941365	CV2835830	deletion	NM_024301.5(FKRP):c.544del (p.Tyr182fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461583]	likely pathogenic	19	46755994	46755994	Human	1	name
405055452	CV2883968	single nucleotide variant	NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004574085]\|Walker-Warburg congenital muscular dystrophy [RCV003593251]	pathogenic\|likely pathogenic	19	46755715	46755715	Human	2	name
405141993	CV2968910	single nucleotide variant	NM_024301.5(FKRP):c.1221C>T (p.Tyr407=)	Walker-Warburg congenital muscular dystrophy [RCV003755405]	likely benign	19	46756671	46756671	Human	1	name
405141238	CV2970303	single nucleotide variant	NM_024301.5(FKRP):c.1215G>T (p.Val405=)	Walker-Warburg congenital muscular dystrophy [RCV003755319]	likely benign	19	46756665	46756665	Human	1	name
405142264	CV2976000	single nucleotide variant	NM_024301.5(FKRP):c.1443C>G (p.Pro481=)	Walker-Warburg congenital muscular dystrophy [RCV003755440]	likely benign	19	46756893	46756893	Human	1	name
405142986	CV2988522	single nucleotide variant	NM_024301.5(FKRP):c.1428G>T (p.Gly476=)	Walker-Warburg congenital muscular dystrophy [RCV003755520]	likely benign	19	46756878	46756878	Human	1	name
405147005	CV3017190	single nucleotide variant	NM_024301.5(FKRP):c.1179A>C (p.Val393=)	Walker-Warburg congenital muscular dystrophy [RCV003755861]	likely benign	19	46756629	46756629	Human	1	name
405147366	CV3023546	single nucleotide variant	NM_024301.5(FKRP):c.1275C>T (p.Gly425=)	Walker-Warburg congenital muscular dystrophy [RCV003755952]	likely benign	19	46756725	46756725	Human	1	name
405147288	CV3029888	single nucleotide variant	NM_024301.5(FKRP):c.1155G>T (p.Ser385=)	Walker-Warburg congenital muscular dystrophy [RCV003755943]	likely benign	19	46756605	46756605	Human	1	name
405150586	CV3036956	single nucleotide variant	NM_024301.5(FKRP):c.1155G>C (p.Ser385=)	Walker-Warburg congenital muscular dystrophy [RCV003756114]	likely benign	19	46756605	46756605	Human	1	name
405150819	CV3057014	single nucleotide variant	NM_024301.5(FKRP):c.1200C>T (p.Gly400=)	Walker-Warburg congenital muscular dystrophy [RCV003756315]	likely benign	19	46756650	46756650	Human	1	name
405150832	CV3057015	single nucleotide variant	NM_024301.5(FKRP):c.1237T>C (p.Leu413=)	Cardiovascular phenotype [RCV004992770]\|Walker-Warburg congenital muscular dystrophy [RCV003756316]	likely benign	19	46756687	46756687	Human	1	name
405151952	CV3061986	single nucleotide variant	NM_024301.5(FKRP):c.1422G>T (p.Gly474=)	Walker-Warburg congenital muscular dystrophy [RCV003756413]	likely benign	19	46756872	46756872	Human	1	name
405152410	CV3062880	single nucleotide variant	NM_024301.5(FKRP):c.1038A>T (p.Ser346=)	Walker-Warburg congenital muscular dystrophy [RCV003756455]	likely benign	19	46756488	46756488	Human	1	name
405152251	CV3069798	single nucleotide variant	NM_024301.5(FKRP):c.1107G>A (p.Leu369=)	Walker-Warburg congenital muscular dystrophy [RCV003756441]	likely benign	19	46756557	46756557	Human	1	name
405153926	CV3077028	single nucleotide variant	NM_024301.5(FKRP):c.238G>A (p.Val80Met)	Walker-Warburg congenital muscular dystrophy [RCV003756579]	uncertain significance	19	46755688	46755688	Human	1	name
405154598	CV3081049	single nucleotide variant	NM_024301.5(FKRP):c.1161G>A (p.Val387=)	Walker-Warburg congenital muscular dystrophy [RCV003756635]	likely benign	19	46756611	46756611	Human	1	name
405112931	CV3133676	single nucleotide variant	NM_024301.5(FKRP):c.1092C>T (p.Asp364=)	Walker-Warburg congenital muscular dystrophy [RCV003836469]	likely benign	19	46756542	46756542	Human	1	name
405243976	CV3161075	single nucleotide variant	NM_024301.5(FKRP):c.1251G>A (p.Leu417=)	Walker-Warburg congenital muscular dystrophy [RCV003867984]	likely benign	19	46756701	46756701	Human	1	name
405275913	CV3199498	single nucleotide variant	NM_024301.5(FKRP):c.1431C>A (p.Val477=)	FKRP-related disorder [RCV004539387]	likely benign	19	46756881	46756881	Human		name , trait , alternate_id
405682301	CV3391035	single nucleotide variant	NM_024301.5(FKRP):c.1074A>G (p.Pro358=)	Cardiovascular phenotype [RCV004517573]	likely benign	19	46756524	46756524	Human		name
405682315	CV3391038	single nucleotide variant	NM_024301.5(FKRP):c.284G>T (p.Arg95Leu)	Cardiovascular phenotype [RCV004517576]	uncertain significance	19	46755734	46755734	Human		name
405868777	CV3400600	single nucleotide variant	NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004576603]	likely pathogenic	19	46755613	46755613	Human	1	name
407502898	CV3435976	single nucleotide variant	NM_024301.5(FKRP):c.168C>G (p.Phe56Leu)	Cardiovascular phenotype [RCV004623620]	uncertain significance	19	46755618	46755618	Human		name
407503082	CV3435980	single nucleotide variant	NM_024301.5(FKRP):c.215A>G (p.Gln72Arg)	Cardiovascular phenotype [RCV004623624]	uncertain significance	19	46755665	46755665	Human		name
597732679	CV3666283	single nucleotide variant	NM_024301.5(FKRP):c.254C>T (p.Thr85Met)	Cardiovascular phenotype [RCV004996862]	uncertain significance	19	46755704	46755704	Human		name
597732688	CV3666286	single nucleotide variant	NM_024301.5(FKRP):c.1149C>A (p.Ala383=)	Cardiovascular phenotype [RCV004996864]	likely benign	19	46756599	46756599	Human		name
597732692	CV3666287	single nucleotide variant	NM_024301.5(FKRP):c.1206T>C (p.Phe402=)	Cardiovascular phenotype [RCV004996865]	likely benign	19	46756656	46756656	Human		name
597732698	CV3666288	single nucleotide variant	NM_024301.5(FKRP):c.1105T>C (p.Leu369=)	Cardiovascular phenotype [RCV004996866]	likely benign	19	46756555	46756555	Human		name
597732701	CV3666289	single nucleotide variant	NM_024301.5(FKRP):c.1269C>G (p.Arg423=)	Cardiovascular phenotype [RCV004996867]	likely benign	19	46756719	46756719	Human		name
597732707	CV3666291	single nucleotide variant	NM_024301.5(FKRP):c.1134G>T (p.Leu378=)	Cardiovascular phenotype [RCV004996868]	likely benign	19	46756584	46756584	Human		name
597732710	CV3666292	single nucleotide variant	NM_024301.5(FKRP):c.1227A>G (p.Glu409=)	Cardiovascular phenotype [RCV004996869]	likely benign	19	46756677	46756677	Human		name
597732716	CV3666293	single nucleotide variant	NM_024301.5(FKRP):c.1194C>G (p.Val398=)	Cardiovascular phenotype [RCV004996870]	likely benign	19	46756644	46756644	Human		name
597732719	CV3666294	single nucleotide variant	NM_024301.5(FKRP):c.1275C>G (p.Gly425=)	Cardiovascular phenotype [RCV004996871]	likely benign	19	46756725	46756725	Human		name
597732722	CV3666295	single nucleotide variant	NM_024301.5(FKRP):c.1050C>G (p.Ala350=)	Cardiovascular phenotype [RCV004996872]	likely benign	19	46756500	46756500	Human		name
597732727	CV3666296	single nucleotide variant	NM_024301.5(FKRP):c.1329G>A (p.Glu443=)	Cardiovascular phenotype [RCV004996873]	likely benign	19	46756779	46756779	Human		name
597732732	CV3666297	single nucleotide variant	NM_024301.5(FKRP):c.1341G>A (p.Gln447=)	Cardiovascular phenotype [RCV004996874]	likely benign	19	46756791	46756791	Human		name
597732736	CV3666298	single nucleotide variant	NM_024301.5(FKRP):c.1347G>C (p.Leu449=)	Cardiovascular phenotype [RCV004996875]	likely benign	19	46756797	46756797	Human		name
597732741	CV3666299	single nucleotide variant	NM_024301.5(FKRP):c.1365C>A (p.Ala455=)	Cardiovascular phenotype [RCV004996876]	likely benign	19	46756815	46756815	Human		name
597732747	CV3666300	single nucleotide variant	NM_024301.5(FKRP):c.1317G>C (p.Val439=)	Cardiovascular phenotype [RCV004996877]	likely benign	19	46756767	46756767	Human		name
597732763	CV3666304	single nucleotide variant	NM_024301.5(FKRP):c.1323T>C (p.Phe441=)	Cardiovascular phenotype [RCV004996881]	likely benign	19	46756773	46756773	Human		name
597751317	CV3705754	single nucleotide variant	NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005015849]	likely pathogenic	19	46755715	46755715	Human	1	name
12848873	CV376619	single nucleotide variant	NM_024301.5(FKRP):c.264C>A (p.Tyr88Ter)	not provided [RCV000419914]	pathogenic	19	46755714	46755714	Human		name
12843027	CV376626	single nucleotide variant	NM_024301.5(FKRP):c.1405C>T (p.Leu469=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273522]\|Cardiovascular phenotype [RCV002393016]\|FKRP-related disorder [RCV004533075]\|Walker-Warburg congenital muscular dystrophy [RCV001083062]\|not provided [RCV000727355]\|not specified [RCV00523 ... (more) 9000]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756855	46756855	Human	2	name , alternate_id
597846798	CV3771910	single nucleotide variant	NM_024301.5(FKRP):c.1374G>A (p.Val458=)	Walker-Warburg congenital muscular dystrophy [RCV005122420]	likely benign	19	46756824	46756824	Human	1	name
12837904	CV377795	single nucleotide variant	NM_024301.5(FKRP):c.1191G>T (p.Ala397=)	not specified [RCV000425983]	likely benign	19	46756641	46756641	Human		name
597855724	CV3781337	single nucleotide variant	NM_024301.5(FKRP):c.155T>C (p.Leu52Pro)	Walker-Warburg congenital muscular dystrophy [RCV005130219]	likely pathogenic	19	46755605	46755605	Human	1	name
597889725	CV3823750	single nucleotide variant	NM_024301.5(FKRP):c.1353C>A (p.Pro451=)	Walker-Warburg congenital muscular dystrophy [RCV005165170]	likely benign	19	46756803	46756803	Human	1	name
597904890	CV3836006	deletion	NM_024301.5(FKRP):c.835del (p.Trp279fs)	Walker-Warburg congenital muscular dystrophy [RCV005179779]	pathogenic	19	46756285	46756285	Human	1	name
12887361	CV403271	single nucleotide variant	NM_024301.5(FKRP):c.232C>T (p.Pro78Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828468]\|Cardiovascular phenotype [RCV005338183]\|Walker-Warburg congenital muscular dystrophy [RCV000468926]\|not provided [RCV001770340]	uncertain significance	19	46755682	46755682	Human	2	name
12888697	CV403792	single nucleotide variant	NM_024301.5(FKRP):c.183C>G (p.Asn61Lys)	Walker-Warburg congenital muscular dystrophy [RCV000471431]	uncertain significance	19	46755633	46755633	Human	1	name
12889325	CV403795	single nucleotide variant	NM_024301.5(FKRP):c.1155G>A (p.Ser385=)	Walker-Warburg congenital muscular dystrophy [RCV000472554]	likely benign	19	46756605	46756605	Human	1	name
13466664	CV470326	single nucleotide variant	NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001829569]\|Cardiovascular phenotype [RCV004023805]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002506304]\|Walker-Warburg congenital muscular dystrophy [RCV000552107]	uncertain significance	19	46755572	46755572	Human	5	name
13499017	CV470339	single nucleotide variant	NM_024301.5(FKRP):c.295G>A (p.Val99Met)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001834763]\|Cardiovascular phenotype [RCV002438329]\|Walker-Warburg congenital muscular dystrophy [RCV000531133]\|not provided [RCV003144323]	uncertain significance	19	46755745	46755745	Human	2	name
13506294	CV481141	single nucleotide variant	NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000578092]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV000577932]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000578007]\|Primary dilated cardiomyopathy [RCV000578009]	uncertain significance	19	46755578	46755578	Human	4	name
13523724	CV489076	single nucleotide variant	NM_024301.5(FKRP):c.1137G>T (p.Arg379=)	Walker-Warburg congenital muscular dystrophy [RCV002062012]\|not provided [RCV000593367]	likely benign\|uncertain significance	19	46756587	46756587	Human	1	name
13538553	CV506906	single nucleotide variant	NM_024301.5(FKRP):c.1317G>A (p.Val439=)	Cardiovascular phenotype [RCV002385953]\|Walker-Warburg congenital muscular dystrophy [RCV000865345]\|not specified [RCV000612001]	likely benign	19	46756767	46756767	Human	1	name
13525274	CV507883	single nucleotide variant	NM_024301.5(FKRP):c.1176C>T (p.Phe392=)	Cardiovascular phenotype [RCV002331038]\|Walker-Warburg congenital muscular dystrophy [RCV002062913]\|not specified [RCV000602938]	likely benign	19	46756626	46756626	Human	1	name
13537035	CV507890	single nucleotide variant	NM_024301.5(FKRP):c.1224C>T (p.Ser408=)	Cardiovascular phenotype [RCV002368094]\|Walker-Warburg congenital muscular dystrophy [RCV000866507]\|not provided [RCV001707806]	likely benign	19	46756674	46756674	Human	1	name
13617281	CV533603	single nucleotide variant	NM_024301.5(FKRP):c.206C>T (p.Ser69Phe)	Walker-Warburg congenital muscular dystrophy [RCV000634063]\|not provided [RCV001766350]\|not specified [RCV001821795]	uncertain significance	19	46755656	46755656	Human	1	name
13789227	CV548875	deletion	NM_024301.5(FKRP):c.656del (p.Gly219fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000665862]\|Cardiovascular phenotype [RCV004026087]\|Walker-Warburg congenital muscular dystrophy [RCV001855447]	pathogenic\|likely pathogenic	19	46756104	46756104	Human	2	name
13786398	CV548878	deletion	NM_024301.5(FKRP):c.796del (p.Ala266fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000672793]\|Walker-Warburg congenital muscular dystrophy [RCV002531323]	pathogenic\|likely pathogenic	19	46756244	46756244	Human	2	name
13784743	CV548896	single nucleotide variant	NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000671226]\|Walker-Warburg congenital muscular dystrophy [RCV003754883]	pathogenic\|likely pathogenic	19	46755664	46755664	Human	2	name
13789355	CV549195	single nucleotide variant	NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000665956]\|Cardiovascular phenotype [RCV004993923]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002499150]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), t ... (more) ype A5 [RCV004568497]\|Walker-Warburg congenital muscular dystrophy [RCV000700227]\|not provided [RCV001784236]	pathogenic\|likely pathogenic	19	46755716	46755716	Human	5	name
13792002	CV549197	duplication	NM_024301.5(FKRP):c.558dup (p.Ala187fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000668168]	likely pathogenic	19	46756003	46756004	Human	1	name
13785284	CV549371	deletion	NM_024301.5(FKRP):c.464del (p.Leu155fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000671874]	likely pathogenic	19	46755914	46755914	Human	1	name
13783119	CV549372	deletion	NM_024301.5(FKRP):c.686del (p.Arg229fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000669713]\|Cardiovascular phenotype [RCV004993928]\|Walker-Warburg congenital muscular dystrophy [RCV001855525]\|not provided [RCV001009211]	pathogenic\|likely pathogenic	19	46756136	46756136	Human	2	name
13801357	CV570852	single nucleotide variant	NM_024301.5(FKRP):c.185C>T (p.Ala62Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830533]\|Walker-Warburg congenital muscular dystrophy [RCV000697777]	uncertain significance	19	46755635	46755635	Human	2	name
13833901	CV585141	single nucleotide variant	NM_024301.5(FKRP):c.187G>A (p.Val63Met)	Cardiovascular phenotype [RCV002406663]\|Walker-Warburg congenital muscular dystrophy [RCV000824147]\|not provided [RCV000729290]	uncertain significance	19	46755637	46755637	Human	1	name
13836711	CV587990	single nucleotide variant	NM_024301.5(FKRP):c.1236C>T (p.His412=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830628]\|Cardiovascular phenotype [RCV002360859]\|FKRP-related disorder [RCV004535860]\|Walker-Warburg congenital muscular dystrophy [RCV001086434]\|not provided [RCV000732907]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756686	46756686	Human	2	name , alternate_id
13837165	CV588451	single nucleotide variant	NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004569418]\|Walker-Warburg congenital muscular dystrophy [RCV005056493]\|not provided [RCV000733489]	pathogenic\|likely pathogenic	19	46755714	46755714	Human	2	name
13837370	CV588659	deletion	NM_024301.5(FKRP):c.740del (p.Pro247fs)	not provided [RCV000733771]	pathogenic	19	46756186	46756186	Human		name
14732549	CV648184	single nucleotide variant	NM_024301.5(FKRP):c.113G>A (p.Gly38Glu)	Walker-Warburg congenital muscular dystrophy [RCV000801890]	uncertain significance	19	46755563	46755563	Human	1	name
14712927	CV648192	deletion	NM_024301.5(FKRP):c.948del (p.Cys317fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830816]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002507441]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001580551]\|Walker-Warburg con ... (more) genital muscular dystrophy [RCV000822337]\|not provided [RCV001784454]	pathogenic	19	46756393	46756393	Human	4	name
15130915	CV684836	single nucleotide variant	NM_024301.5(FKRP):c.1119C>A (p.Gly373=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275318]\|Cardiovascular phenotype [RCV002434076]\|Walker-Warburg congenital muscular dystrophy [RCV000863518]\|not provided [RCV001585810]	likely benign\|uncertain significance	19	46756569	46756569	Human	2	name
15097717	CV689107	single nucleotide variant	NM_024301.5(FKRP):c.1167G>A (p.Glu389=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275319]\|Walker-Warburg congenital muscular dystrophy [RCV001489188]	likely benign\|uncertain significance	19	46756617	46756617	Human	2	name
15105363	CV689108	single nucleotide variant	NM_024301.5(FKRP):c.1266C>G (p.Pro422=)	Cardiovascular phenotype [RCV002442858]\|Walker-Warburg congenital muscular dystrophy [RCV000871073]	likely benign	19	46756716	46756716	Human	1	name
15125991	CV694468	single nucleotide variant	NM_024301.5(FKRP):c.1008G>C (p.Ala336=)	Cardiovascular phenotype [RCV002427201]\|Walker-Warburg congenital muscular dystrophy [RCV000875042]	likely benign	19	46756458	46756458	Human	1	name
15126640	CV694469	single nucleotide variant	NM_024301.5(FKRP):c.1386T>G (p.Pro462=)	Cardiovascular phenotype [RCV004027855]\|Walker-Warburg congenital muscular dystrophy [RCV001430010]	likely benign	19	46756836	46756836	Human	1	name
15175368	CV742002	single nucleotide variant	NM_024301.5(FKRP):c.1041G>A (p.Leu347=)	Walker-Warburg congenital muscular dystrophy [RCV002065740]	likely benign	19	46756491	46756491	Human	1	name
15158951	CV742003	single nucleotide variant	NM_024301.5(FKRP):c.1173C>T (p.Gly391=)	Cardiovascular phenotype [RCV005338450]\|Walker-Warburg congenital muscular dystrophy [RCV000902837]	likely benign	19	46756623	46756623	Human	1	name
15172479	CV742004	single nucleotide variant	NM_024301.5(FKRP):c.1368C>T (p.Gly456=)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275322]\|Cardiovascular phenotype [RCV002382057]\|Walker-Warburg congenital muscular dystrophy [RCV001479556]	likely benign\|uncertain significance	19	46756818	46756818	Human	2	name
15187034	CV772762	single nucleotide variant	NM_024301.5(FKRP):c.1233C>T (p.Asn411=)	Cardiovascular phenotype [RCV004029577]\|Walker-Warburg congenital muscular dystrophy [RCV001489775]	likely benign	19	46756683	46756683	Human	1	name
15187125	CV772763	single nucleotide variant	NM_024301.5(FKRP):c.1257C>T (p.Pro419=)	Walker-Warburg congenital muscular dystrophy [RCV000931564]	likely benign	19	46756707	46756707	Human	1	name
15186873	CV772764	single nucleotide variant	NM_024301.5(FKRP):c.1320G>A (p.Glu440=)	Cardiovascular phenotype [RCV002382110]\|Walker-Warburg congenital muscular dystrophy [RCV000931486]	likely benign	19	46756770	46756770	Human	1	name
15197378	CV772765	single nucleotide variant	NM_024301.5(FKRP):c.1465C>T (p.Leu489=)	Cardiovascular phenotype [RCV002390955]\|Walker-Warburg congenital muscular dystrophy [RCV000934492]	likely benign	19	46756915	46756915	Human	1	name
26920688	CV847768	single nucleotide variant	NM_024301.5(FKRP):c.125C>G (p.Ala42Gly)	Cardiovascular phenotype [RCV004031500]\|Walker-Warburg congenital muscular dystrophy [RCV001048305]	likely benign\|uncertain significance	19	46755575	46755575	Human	1	name
26887452	CV847769	single nucleotide variant	NM_024301.5(FKRP):c.172G>A (p.Ala58Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001279352]\|Cardiovascular phenotype [RCV004994213]\|Walker-Warburg congenital muscular dystrophy [RCV001056388]	uncertain significance	19	46755622	46755622	Human	2	name
26913005	CV847770	single nucleotide variant	NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001827210]\|Walker-Warburg congenital muscular dystrophy [RCV001035053]	uncertain significance	19	46755628	46755628	Human	2	name
28905150	CV860590	single nucleotide variant	NM_024301.5(FKRP):c.169G>T (p.Glu57Ter)	not provided [RCV001093244]	pathogenic	19	46755619	46755619	Human		name
34891474	CV906108	single nucleotide variant	NM_024301.5(FKRP):c.155T>A (p.Leu52Gln)	not specified [RCV001175096]	uncertain significance	19	46755605	46755605	Human		name
38494421	CV958661	single nucleotide variant	NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828973]\|Cardiovascular phenotype [RCV004619580]\|Walker-Warburg congenital muscular dystrophy [RCV001241301]	uncertain significance	19	46755556	46755556	Human	2	name
126740417	CV998659	single nucleotide variant	NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830129]\|Cardiovascular phenotype [RCV002418887]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002493553]\|Walker-Warburg congenital muscular dystrophy [RCV001295759]	likely pathogenic\|uncertain significance	19	46755655	46755655	Human	5	name
126726611	CV998660	single nucleotide variant	NM_024301.5(FKRP):c.245C>T (p.Ala82Val)	Walker-Warburg congenital muscular dystrophy [RCV001302946]	uncertain significance	19	46755695	46755695	Human	1	name
126772541	CV1013786	single nucleotide variant	NM_024301.5(FKRP):c.371A>G (p.Glu124Gly)	Cardiovascular phenotype [RCV004035112]\|Walker-Warburg congenital muscular dystrophy [RCV001323816]	uncertain significance	19	46755821	46755821	Human	1	name
126752641	CV1013787	single nucleotide variant	NM_024301.5(FKRP):c.403G>T (p.Ala135Ser)	Walker-Warburg congenital muscular dystrophy [RCV001327150]	uncertain significance	19	46755853	46755853	Human	1	name
126740780	CV1013788	single nucleotide variant	NM_024301.5(FKRP):c.472G>A (p.Ala158Thr)	Walker-Warburg congenital muscular dystrophy [RCV001325253]	uncertain significance	19	46755922	46755922	Human	1	name
126768868	CV1013789	single nucleotide variant	NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002476507]\|Walker-Warburg congenital muscular dystrophy [RCV001321618]	uncertain significance	19	46756066	46756066	Human	2	name
126756593	CV1013790	single nucleotide variant	NM_024301.5(FKRP):c.641T>G (p.Leu214Arg)	Walker-Warburg congenital muscular dystrophy [RCV001317241]	uncertain significance	19	46756091	46756091	Human	1	name
126742569	CV1013791	single nucleotide variant	NM_024301.5(FKRP):c.781G>C (p.Gly261Arg)	Walker-Warburg congenital muscular dystrophy [RCV001325502]	uncertain significance	19	46756231	46756231	Human	1	name
126741912	CV1013792	single nucleotide variant	NM_024301.5(FKRP):c.805C>T (p.Leu269Phe)	Walker-Warburg congenital muscular dystrophy [RCV001325406]	uncertain significance	19	46756255	46756255	Human	1	name
126740314	CV1013793	single nucleotide variant	NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830367]\|Cardiovascular phenotype [RCV002377416]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002499638]\|Walker-Warburg congenital muscular dystrophy [RCV001325181]	uncertain significance	19	46756343	46756343	Human	5	name
126752508	CV1013794	single nucleotide variant	NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001831029]\|Walker-Warburg congenital muscular dystrophy [RCV001327126]	likely pathogenic\|uncertain significance	19	46756396	46756396	Human	2	name
126739956	CV1018611	single nucleotide variant	NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys)	FKRP-related disorder [RCV005225371]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001329321]	uncertain significance	19	46756370	46756370	Human	1	name , alternate_id
8643020	CV102002	single nucleotide variant	NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000577971]\|Cardiovascular phenotype [RCV002453409]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001563823]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001563824]\|Walker-Warburg congen ... (more) ital muscular dystrophy [RCV000227473]\|not provided [RCV000711662]\|not specified [RCV000082175]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	19	46755791	46755791	Human	4	name
8643021	CV102003	single nucleotide variant	NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000673389]\|Cardiovascular phenotype [RCV004619198]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002505002]\|Walker-Warburg congenital muscular dystrophy [RCV002513846]\|not provided [RCV00008 ... (more) 2176]	uncertain significance	19	46755854	46755854	Human	5	name
8643022	CV102004	single nucleotide variant	NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275312]\|Cardiomyopathy [RCV000852755]\|Cardiovascular phenotype [RCV002336238]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002505003]\|Walker-Warburg congenital muscular dystrophy [RCV000 ... (more) 234733]\|not provided [RCV000991333]\|not specified [RCV000173034]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	19	46755970	46755970	Human	9	name
8643023	CV102005	single nucleotide variant	NM_024301.5(FKRP):c.581T>A (p.Leu194Gln)	not provided [RCV000082178]	uncertain significance	19	46756031	46756031	Human		name
8643027	CV102009	single nucleotide variant	NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000178344]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466994]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV003987356]\|Walker-Warburg congenital muscular dystrophy [RCV001050280]\|n ... (more) ot provided [RCV000082183]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	19	46756391	46756391	Human	4	name
126774944	CV1034358	single nucleotide variant	NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001831135]\|Cardiovascular phenotype [RCV002447423]\|Walker-Warburg congenital muscular dystrophy [RCV001347810]	uncertain significance	19	46755755	46755755	Human	2	name
126768697	CV1034360	single nucleotide variant	NM_024301.5(FKRP):c.635C>T (p.Ala212Val)	Walker-Warburg congenital muscular dystrophy [RCV001343504]	uncertain significance	19	46756085	46756085	Human	1	name
126733667	CV1034361	single nucleotide variant	NM_024301.5(FKRP):c.688G>A (p.Gly230Ser)	Walker-Warburg congenital muscular dystrophy [RCV001349818]	uncertain significance	19	46756138	46756138	Human	1	name
126771716	CV1034362	single nucleotide variant	NM_024301.5(FKRP):c.761G>A (p.Arg254His)	Walker-Warburg congenital muscular dystrophy [RCV001345204]	uncertain significance	19	46756211	46756211	Human	1	name
126773095	CV1034363	single nucleotide variant	NM_024301.5(FKRP):c.797C>T (p.Ala266Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825920]\|Walker-Warburg congenital muscular dystrophy [RCV001345994]	uncertain significance	19	46756247	46756247	Human	2	name
126767066	CV1034364	single nucleotide variant	NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825888]\|Walker-Warburg congenital muscular dystrophy [RCV001342674]\|not specified [RCV003323862]	uncertain significance	19	46756420	46756420	Human	2	name
126923639	CV1051351	single nucleotide variant	NM_024301.5(FKRP):c.536C>A (p.Thr179Asn)	Walker-Warburg congenital muscular dystrophy [RCV001366077]	uncertain significance	19	46755986	46755986	Human	1	name
126913359	CV1051352	single nucleotide variant	NM_024301.5(FKRP):c.583G>T (p.Asp195Tyr)	Walker-Warburg congenital muscular dystrophy [RCV001359145]	uncertain significance	19	46756033	46756033	Human	1	name
126909260	CV1051353	single nucleotide variant	NM_024301.5(FKRP):c.890T>G (p.Phe297Cys)	Walker-Warburg congenital muscular dystrophy [RCV001368341]	uncertain significance	19	46756340	46756340	Human	1	name
150337102	CV1166327	single nucleotide variant	NM_024301.5(FKRP):c.482C>T (p.Ala161Val)	not provided [RCV001532382]	uncertain significance	19	46755932	46755932	Human		name
151349359	CV1170360	single nucleotide variant	NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)	Abnormality of the musculature [RCV001814552]\|Walker-Warburg congenital muscular dystrophy [RCV001873816]	likely pathogenic\|uncertain significance	19	46756385	46756385	Human	2	name
150404295	CV1189374	single nucleotide variant	NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001563925]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001563923]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001563924]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005409827]\| ... (more) Walker-Warburg congenital muscular dystrophy [RCV001882663]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756304	46756304	Human	4	name
150532091	CV1292058	single nucleotide variant	NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)	Muscular dystrophy-dystroglycanopathy type B5 [RCV001733724]\|Walker-Warburg congenital muscular dystrophy [RCV002032740]	uncertain significance	19	46756099	46756099	Human	2	name
150554409	CV1295843	single nucleotide variant	NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002503206]\|Walker-Warburg congenital muscular dystrophy [RCV001861108]\|not provided [RCV001771074]	uncertain significance	19	46756331	46756331	Human	2	name
150542333	CV1302571	single nucleotide variant	NM_024301.5(FKRP):c.892G>A (p.Gly298Arg)	Cardiovascular phenotype [RCV003298976]\|Walker-Warburg congenital muscular dystrophy [RCV001885031]\|not provided [RCV001761261]	uncertain significance	19	46756342	46756342	Human	1	name
150544239	CV1313216	single nucleotide variant	NM_024301.5(FKRP):c.939G>A (p.Trp313Ter)	not provided [RCV001783294]	pathogenic	19	46756389	46756389	Human		name
151352693	CV1325867	single nucleotide variant	NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)	Muscular dystrophy-dystroglycanopathy type B5 [RCV001815627]	likely pathogenic	19	46755953	46755953	Human	1	name
151842695	CV1339088	single nucleotide variant	NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV002464501]\|Cardiovascular phenotype [RCV002361338]\|Walker-Warburg congenital muscular dystrophy [RCV001977891]\|not specified [RCV003331255]	pathogenic\|uncertain significance	19	46756096	46756096	Human	2	name
8659563	CV134503	single nucleotide variant	NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000672414]\|Cardiovascular phenotype [RCV002326812]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002498510]\|Primary dilated cardiomyopathy [RCV000852754]\|Walker-Warburg congenital muscular d ... (more) ystrophy [RCV001081194]\|not provided [RCV000512944]\|not specified [RCV000153241]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46755877	46755877	Human	9	name
8659564	CV134504	single nucleotide variant	NM_024301.5(FKRP):c.822C>G (p.Ile274Met)	Cardiovascular phenotype [RCV002426662]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001836732]\|Walker-Warburg congenital muscular dystrophy [RCV001086481]\|not provided [RCV000711666]\|not specified [RCV000117039]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756272	46756272	Human	4	name
151781216	CV1356250	single nucleotide variant	NM_024301.5(FKRP):c.859T>C (p.Phe287Leu)	Walker-Warburg congenital muscular dystrophy [RCV002046184]	uncertain significance	19	46756309	46756309	Human	1	name
151723051	CV1358099	single nucleotide variant	NM_024301.5(FKRP):c.433G>A (p.Val145Met)	Walker-Warburg congenital muscular dystrophy [RCV001945183]	uncertain significance	19	46755883	46755883	Human	1	name
151862007	CV1365009	single nucleotide variant	NM_024301.5(FKRP):c.299G>C (p.Arg100Pro)	Walker-Warburg congenital muscular dystrophy [RCV002017867]	uncertain significance	19	46755749	46755749	Human	1	name
151891649	CV1368124	single nucleotide variant	NM_024301.5(FKRP):c.488C>G (p.Ala163Gly)	Walker-Warburg congenital muscular dystrophy [RCV001888793]\|not provided [RCV003146304]	uncertain significance	19	46755938	46755938	Human	1	name
151802753	CV1375357	single nucleotide variant	NM_024301.5(FKRP):c.844G>A (p.Gly282Arg)	Cardiovascular phenotype [RCV002407143]\|Walker-Warburg congenital muscular dystrophy [RCV001953079]	uncertain significance	19	46756294	46756294	Human	1	name
151746127	CV1401183	single nucleotide variant	NM_024301.5(FKRP):c.845G>C (p.Gly282Ala)	Cardiovascular phenotype [RCV002443036]\|Walker-Warburg congenital muscular dystrophy [RCV002022837]	uncertain significance	19	46756295	46756295	Human	1	name
151859378	CV1403546	single nucleotide variant	NM_024301.5(FKRP):c.568C>T (p.Arg190Cys)	Walker-Warburg congenital muscular dystrophy [RCV001979927]	uncertain significance	19	46756018	46756018	Human	1	name
151858993	CV1403616	single nucleotide variant	NM_024301.5(FKRP):c.779A>C (p.Glu260Ala)	Cardiovascular phenotype [RCV002407157]\|Walker-Warburg congenital muscular dystrophy [RCV001996888]	uncertain significance	19	46756229	46756229	Human	1	name
151823448	CV1412172	duplication	NM_024301.5(FKRP):c.1187dup (p.Ala397fs)	Cardiovascular phenotype [RCV002334830]\|Walker-Warburg congenital muscular dystrophy [RCV001901109]	pathogenic	19	46756635	46756636	Human	1	name
151879106	CV1412595	single nucleotide variant	NM_024301.5(FKRP):c.994G>A (p.Val332Met)	Cardiovascular phenotype [RCV005331030]\|Walker-Warburg congenital muscular dystrophy [RCV001926203]	uncertain significance	19	46756444	46756444	Human	1	name
151727263	CV1412616	single nucleotide variant	NM_024301.5(FKRP):c.628C>T (p.Leu210Phe)	Walker-Warburg congenital muscular dystrophy [RCV001945683]	uncertain significance	19	46756078	46756078	Human	1	name
151844093	CV1414721	single nucleotide variant	NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)	Cardiovascular phenotype [RCV003167028]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002478295]\|Walker-Warburg congenital muscular dystrophy [RCV001903206]\|not provided [RCV003442943]	uncertain significance	19	46755991	46755991	Human	5	name
151739431	CV1437604	single nucleotide variant	NM_024301.5(FKRP):c.493C>T (p.Pro165Ser)	Walker-Warburg congenital muscular dystrophy [RCV001870874]	uncertain significance	19	46755943	46755943	Human	1	name
151775981	CV1440262	single nucleotide variant	NM_024301.5(FKRP):c.344C>G (p.Ser115Trp)	Cardiovascular phenotype [RCV002460170]\|Walker-Warburg congenital muscular dystrophy [RCV001874905]	uncertain significance	19	46755794	46755794	Human	1	name
151826942	CV1447295	single nucleotide variant	NM_024301.5(FKRP):c.434T>G (p.Val145Gly)	Cardiovascular phenotype [RCV004039589]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002478125]\|Walker-Warburg congenital muscular dystrophy [RCV001870152]	uncertain significance	19	46755884	46755884	Human	5	name
151832844	CV1447388	duplication	NM_024301.5(FKRP):c.1234dup (p.His412fs)	Walker-Warburg congenital muscular dystrophy [RCV001880474]\|not provided [RCV003146265]	pathogenic\|uncertain significance	19	46756682	46756683	Human	1	name
151789159	CV1450873	single nucleotide variant	NM_024301.5(FKRP):c.718T>C (p.Phe240Leu)	Cardiovascular phenotype [RCV004044313]\|Walker-Warburg congenital muscular dystrophy [RCV001931236]	uncertain significance	19	46756168	46756168	Human	1	name
151740158	CV1455292	single nucleotide variant	NM_024301.5(FKRP):c.959G>A (p.Arg320His)	Cardiovascular phenotype [RCV004990534]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002486520]\|Walker-Warburg congenital muscular dystrophy [RCV002005736]	uncertain significance	19	46756409	46756409	Human	5	name
151821815	CV1456307	single nucleotide variant	NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002478088]\|Walker-Warburg congenital muscular dystrophy [RCV002029966]	uncertain significance	19	46756285	46756285	Human	2	name
151776487	CV1463887	single nucleotide variant	NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)	Cardiovascular phenotype [RCV005343121]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002490201]\|Walker-Warburg congenital muscular dystrophy [RCV001896841]	uncertain significance	19	46756378	46756378	Human	5	name
151830128	CV1465607	single nucleotide variant	NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002479773]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003471265]\|Walker-Warburg congenital muscular dystrophy [RCV002014233]\|not provided [RCV003491014]	likely pathogenic\|uncertain significance	19	46756143	46756143	Human	3	name
151850469	CV1465791	single nucleotide variant	NM_024301.5(FKRP):c.313C>G (p.Gln105Glu)	Walker-Warburg congenital muscular dystrophy [RCV002033101]	uncertain significance	19	46755763	46755763	Human	1	name
151743313	CV1466821	deletion	NM_024301.5(FKRP):c.1075del (p.Trp359fs)	Walker-Warburg congenital muscular dystrophy [RCV001871237]	pathogenic	19	46756525	46756525	Human	1	name
151875922	CV1466918	single nucleotide variant	NM_024301.5(FKRP):c.739C>A (p.Pro247Thr)	Walker-Warburg congenital muscular dystrophy [RCV001885858]	uncertain significance	19	46756189	46756189	Human	1	name
151714715	CV1469953	deletion	NM_024301.5(FKRP):c.1354del (p.Leu452fs)	Walker-Warburg congenital muscular dystrophy [RCV001890091]	pathogenic	19	46756801	46756801	Human	1	name
151714063	CV1473389	single nucleotide variant	NM_024301.5(FKRP):c.980G>A (p.Arg327His)	Walker-Warburg congenital muscular dystrophy [RCV001889972]	uncertain significance	19	46756430	46756430	Human	1	name
151862747	CV1474336	single nucleotide variant	NM_024301.5(FKRP):c.452G>C (p.Gly151Ala)	Walker-Warburg congenital muscular dystrophy [RCV001884142]	uncertain significance	19	46755902	46755902	Human	1	name
151827467	CV1479802	single nucleotide variant	NM_024301.5(FKRP):c.788C>T (p.Ala263Val)	Walker-Warburg congenital muscular dystrophy [RCV001901471]	uncertain significance	19	46756238	46756238	Human	1	name
151769905	CV1482945	single nucleotide variant	NM_024301.5(FKRP):c.913C>A (p.Pro305Thr)	Walker-Warburg congenital muscular dystrophy [RCV001914885]	uncertain significance	19	46756363	46756363	Human	1	name
151747349	CV1485332	single nucleotide variant	NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)	Walker-Warburg congenital muscular dystrophy [RCV002006464]	pathogenic\|uncertain significance	19	46756327	46756327	Human	1	name
151710357	CV1487271	single nucleotide variant	NM_024301.5(FKRP):c.736C>A (p.Pro246Thr)	Walker-Warburg congenital muscular dystrophy [RCV001889241]	uncertain significance	19	46756186	46756186	Human	1	name
151838509	CV1487413	single nucleotide variant	NM_024301.5(FKRP):c.470C>G (p.Ala157Gly)	Walker-Warburg congenital muscular dystrophy [RCV001935823]	uncertain significance	19	46755920	46755920	Human	1	name
151722667	CV1498146	single nucleotide variant	NM_024301.5(FKRP):c.673C>A (p.Gln225Lys)	Cardiovascular phenotype [RCV004990505]\|Walker-Warburg congenital muscular dystrophy [RCV001983302]	uncertain significance	19	46756123	46756123	Human	1	name
151764765	CV1499438	single nucleotide variant	NM_024301.5(FKRP):c.907G>A (p.Asp303Asn)	Walker-Warburg congenital muscular dystrophy [RCV001873864]	uncertain significance	19	46756357	46756357	Human	1	name
151773248	CV1502247	single nucleotide variant	NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004571449]\|Walker-Warburg congenital muscular dystrophy [RCV001929734]	pathogenic\|likely pathogenic	19	46756342	46756342	Human	2	name
151730439	CV1506258	single nucleotide variant	NM_024301.5(FKRP):c.428G>C (p.Arg143Pro)	Walker-Warburg congenital muscular dystrophy [RCV001892192]	uncertain significance	19	46755878	46755878	Human	1	name
151842699	CV1511401	single nucleotide variant	NM_024301.5(FKRP):c.578C>T (p.Ala193Val)	Walker-Warburg congenital muscular dystrophy [RCV001994948]	uncertain significance	19	46756028	46756028	Human	1	name
151709560	CV1515124	single nucleotide variant	NM_024301.5(FKRP):c.811G>A (p.Ala271Thr)	Walker-Warburg congenital muscular dystrophy [RCV002001674]	uncertain significance	19	46756261	46756261	Human	1	name
9691341	CV172254	single nucleotide variant	NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)	Autosomal recessive limb-girdle muscular dystrophy [RCV003324234]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466061]\|Walker-Warburg congenital muscular dystrophy [RCV003592021]	pathogenic\|likely pathogenic\|uncertain significance	19	46755919	46755919	Human	3	name
9691342	CV172255	single nucleotide variant	NM_024301.5(FKRP):c.529G>A (p.Glu177Lys)	Cardiovascular phenotype [RCV002344565]\|Walker-Warburg congenital muscular dystrophy [RCV003096686]	uncertain significance	19	46755979	46755979	Human	1	name
9692932	CV177298	single nucleotide variant	NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275315]\|Cardiovascular phenotype [RCV002381484]\|FKRP-related disorder [RCV004544393]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003225033]\|Walker- ... (more) Warburg congenital muscular dystrophy [RCV001079526]\|not provided [RCV000711665]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756190	46756190	Human	3	name , alternate_id
155733709	CV1788069	single nucleotide variant	NM_024301.5(FKRP):c.424G>A (p.Glu142Lys)	Cardiovascular phenotype [RCV002329847]	uncertain significance	19	46755874	46755874	Human		name
155717104	CV1792142	single nucleotide variant	NM_024301.5(FKRP):c.329G>C (p.Arg110Pro)	Autosomal recessive limb-girdle muscular dystrophy [RCV005058290]\|Cardiovascular phenotype [RCV002326203]	pathogenic\|uncertain significance	19	46755779	46755779	Human	1	name
155695945	CV1796955	single nucleotide variant	NM_024301.5(FKRP):c.394G>A (p.Gly132Arg)	Cardiovascular phenotype [RCV002375422]	uncertain significance	19	46755844	46755844	Human		name
155734839	CV1797789	single nucleotide variant	NM_024301.5(FKRP):c.428G>T (p.Arg143Leu)	Cardiovascular phenotype [RCV002330195]\|Walker-Warburg congenital muscular dystrophy [RCV003102559]	uncertain significance	19	46755878	46755878	Human	1	name
155733109	CV1801970	single nucleotide variant	NM_024301.5(FKRP):c.485C>T (p.Thr162Met)	Cardiovascular phenotype [RCV002340332]	uncertain significance	19	46755935	46755935	Human		name
155687299	CV1803590	single nucleotide variant	NM_024301.5(FKRP):c.590A>T (p.Asp197Val)	Cardiovascular phenotype [RCV002355743]\|Walker-Warburg congenital muscular dystrophy [RCV003098049]	uncertain significance	19	46756040	46756040	Human	1	name
155676880	CV1806599	single nucleotide variant	NM_024301.5(FKRP):c.556C>G (p.Pro186Ala)	Cardiovascular phenotype [RCV002352041]	uncertain significance	19	46756006	46756006	Human		name
155725882	CV1811795	single nucleotide variant	NM_024301.5(FKRP):c.658A>C (p.Thr220Pro)	Cardiovascular phenotype [RCV002364524]	uncertain significance	19	46756108	46756108	Human		name
155680491	CV1812646	single nucleotide variant	NM_024301.5(FKRP):c.721G>A (p.Ala241Thr)	Cardiovascular phenotype [RCV002370959]	uncertain significance	19	46756171	46756171	Human		name
155711281	CV1817822	single nucleotide variant	NM_024301.5(FKRP):c.911C>T (p.Thr304Met)	Cardiovascular phenotype [RCV002378701]	uncertain significance	19	46756361	46756361	Human		name
155712654	CV1824296	single nucleotide variant	NM_024301.5(FKRP):c.848G>C (p.Arg283Pro)	Cardiovascular phenotype [RCV002447664]	uncertain significance	19	46756298	46756298	Human		name
155797517	CV1859387	single nucleotide variant	NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV002465014]	uncertain significance	19	46756037	46756037	Human	1	name
155797147	CV1863196	single nucleotide variant	NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV002470470]	likely pathogenic	19	46755976	46755976	Human	1	name
156172662	CV1867150	single nucleotide variant	NM_024301.5(FKRP):c.829G>C (p.Val277Leu)	not provided [RCV002508703]	uncertain significance	19	46756279	46756279	Human		name
155954965	CV1868464	single nucleotide variant	NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)	Cardiovascular phenotype [RCV003308140]\|Walker-Warburg congenital muscular dystrophy [RCV002571618]\|not provided [RCV002511946]	uncertain significance	19	46756057	46756057	Human	1	name
156315957	CV1869800	single nucleotide variant	NM_024301.5(FKRP):c.674A>C (p.Gln225Pro)	Walker-Warburg congenital muscular dystrophy [RCV003062744]	uncertain significance	19	46756124	46756124	Human	1	name
156390807	CV1869895	single nucleotide variant	NM_024301.5(FKRP):c.961G>A (p.Ala321Thr)	Walker-Warburg congenital muscular dystrophy [RCV003067994]	uncertain significance	19	46756411	46756411	Human	1	name
156154586	CV1875355	single nucleotide variant	NM_024301.5(FKRP):c.979C>T (p.Arg327Cys)	Walker-Warburg congenital muscular dystrophy [RCV003056659]	uncertain significance	19	46756429	46756429	Human	1	name
156013610	CV1880713	single nucleotide variant	NM_024301.5(FKRP):c.790C>G (p.Arg264Gly)	Walker-Warburg congenital muscular dystrophy [RCV003077234]	uncertain significance	19	46756240	46756240	Human	1	name
156126077	CV1889039	single nucleotide variant	NM_024301.5(FKRP):c.781G>A (p.Gly261Arg)	Walker-Warburg congenital muscular dystrophy [RCV003081641]	uncertain significance	19	46756231	46756231	Human	1	name
156279328	CV1900434	single nucleotide variant	NM_024301.5(FKRP):c.350C>T (p.Pro117Leu)	Walker-Warburg congenital muscular dystrophy [RCV003087056]	uncertain significance	19	46755800	46755800	Human	1	name
156413700	CV1905384	single nucleotide variant	NM_024301.5(FKRP):c.428G>A (p.Arg143His)	Walker-Warburg congenital muscular dystrophy [RCV003073405]	uncertain significance	19	46755878	46755878	Human	1	name
156039786	CV1918456	single nucleotide variant	NM_024301.5(FKRP):c.413C>T (p.Pro138Leu)	Walker-Warburg congenital muscular dystrophy [RCV002620207]	uncertain significance	19	46755863	46755863	Human	1	name
156296185	CV1923199	single nucleotide variant	NM_024301.5(FKRP):c.347G>A (p.Arg116His)	Walker-Warburg congenital muscular dystrophy [RCV002647414]	uncertain significance	19	46755797	46755797	Human	1	name
8596346	CV19257	single nucleotide variant	NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466806]\|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 [RCV002226438]\|Walker-Warburg congenital muscular dystrophy [RCV001851646]\|not provided [RCV ... (more) 003144103]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	19	46756376	46756376	Human	2	name
8596349	CV19260	single nucleotide variant	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	Autosomal recessive limb-girdle muscular dystrophy [RCV002222338]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004442]\|Cardiovascular phenotype [RCV002408451]\|FKRP-related disorder [RCV004532287]\|FKRP-re ... (more) lated muscular dystrophy-dystroglycanopathy [RCV005401279]\|Limb-girdle muscular dystrophy [RCV000612115]\|Muscle weakness [RCV000626960]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV005357072]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001329320]\|Muscular dystrophy-dystroglycanopathy [RCV000503787]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000660622]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001197775]\|Myopathy [RCV001526640]\|Myopathy caused by variation in FKRP [RCV003993736]\|Neuronopathy, distal hereditary motor, type 2B [RCV004776425]\|Nizon-Isidor syndrome [RCV004776426]\|Walker-Warburg congenital muscular dystrophy [RCV000231711]\|not provided [RCV000082182]	pathogenic\|likely pathogenic	19	46756276	46756276	Human	24	name , trait , alternate_id
8596351	CV19263	single nucleotide variant	NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000675047]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000004445]\|Walker-Warburg congenital muscular dystrophy [RCV003591621]\|not provided [RCV003144104]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	19	46756396	46756396	Human	3	name
8596352	CV19264	single nucleotide variant	NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003460428]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000004446]	pathogenic\|likely pathogenic	19	46756113	46756113	Human	2	name
8596357	CV19269	single nucleotide variant	NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004451]	pathogenic	19	46756214	46756214	Human	1	name
8596358	CV19270	single nucleotide variant	NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004452]\|Walker-Warburg congenital muscular dystrophy [RCV002512756]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	46755850	46755850	Human	2	name
8596359	CV19271	single nucleotide variant	NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	Autosomal recessive limb-girdle muscular dystrophy [RCV003155013]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004453]\|Cardiovascular phenotype [RCV002371759]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV001813735]\|Muscular dystrop ... (more) hy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466810]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005003334]\|Walker-Warburg congenital muscular dystrophy [RCV000814162]\|not provided [RCV000732974]	pathogenic\|likely pathogenic	19	46756349	46756349	Human	6	name
8596360	CV19272	single nucleotide variant	NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	Autosomal recessive limb-girdle muscular dystrophy [RCV003488324]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004455]\|FKRP-related disorder [RCV000844942]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type ... (more) A5 [RCV000004454]\|Walker-Warburg congenital muscular dystrophy [RCV000805125]\|not provided [RCV000494504]	pathogenic\|likely pathogenic\|not provided	19	46756369	46756369	Human	4	name , alternate_id
8596361	CV19273	single nucleotide variant	NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV000004456]	pathogenic\|likely pathogenic	19	46756403	46756403	Human	1	name
156449701	CV1941963	single nucleotide variant	NM_024301.5(FKRP):c.832A>G (p.Ser278Gly)	Walker-Warburg congenital muscular dystrophy [RCV003121827]	uncertain significance	19	46756282	46756282	Human	1	name
10052222	CV194500	single nucleotide variant	NM_024301.5(FKRP):c.613C>T (p.Arg205Cys)	Walker-Warburg congenital muscular dystrophy [RCV001852211]\|not provided [RCV000178351]	uncertain significance	19	46756063	46756063	Human	1	name
10052224	CV194503	single nucleotide variant	NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000674993]\|Cardiovascular phenotype [RCV004619208]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002492782]\|Walker-Warburg congenital muscular dystrophy [RCV000548844]\|not provided [RCV00017 ... (more) 8354]\|not specified [RCV003993861]	likely pathogenic\|uncertain significance	19	46756036	46756036	Human	5	name
10052227	CV194506	single nucleotide variant	NM_024301.5(FKRP):c.647G>A (p.Arg216Gln)	Cardiovascular phenotype [RCV004992053]\|Walker-Warburg congenital muscular dystrophy [RCV001313996]\|not provided [RCV000178357]	uncertain significance	19	46756097	46756097	Human	1	name
10052228	CV194507	single nucleotide variant	NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000670956]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003468865]\|Walker-Warburg congenital muscular dystrophy [RCV002517730]\|not provided [RCV000178358]	likely pathogenic\|uncertain significance	19	46756396	46756396	Human	3	name
10052229	CV194508	single nucleotide variant	NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002500502]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003462286]\|Walker-Warburg congenital muscular dystrophy [RCV001065681]\|not provided [RCV000263428]	pathogenic\|likely pathogenic\|uncertain significance	19	46756397	46756397	Human	3	name
10052230	CV194509	single nucleotide variant	NM_024301.5(FKRP):c.964C>G (p.Leu322Val)	Walker-Warburg congenital muscular dystrophy [RCV001852213]\|not provided [RCV000178360]	uncertain significance	19	46756414	46756414	Human	1	name
156119279	CV1969092	single nucleotide variant	NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)	Muscular dystrophy-dystroglycanopathy type B5 [RCV003224635]\|Walker-Warburg congenital muscular dystrophy [RCV002593065]\|not specified [RCV004801225]	likely pathogenic\|uncertain significance	19	46756384	46756384	Human	2	name
156058936	CV1978856	deletion	NM_024301.5(FKRP):c.1444del (p.Gln482fs)	Walker-Warburg congenital muscular dystrophy [RCV002590910]	uncertain significance	19	46756890	46756890	Human	1	name
156077811	CV1979406	single nucleotide variant	NM_024301.5(FKRP):c.928G>A (p.Glu310Lys)	Walker-Warburg congenital muscular dystrophy [RCV002621444]\|not provided [RCV003146590]	uncertain significance	19	46756378	46756378	Human	1	name
155987018	CV1979647	single nucleotide variant	NM_024301.5(FKRP):c.516C>A (p.Asn172Lys)	Walker-Warburg congenital muscular dystrophy [RCV002617852]	uncertain significance	19	46755966	46755966	Human	1	name
156395302	CV1984562	single nucleotide variant	NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005019295]\|Walker-Warburg congenital muscular dystrophy [RCV002635425]	pathogenic	19	46756142	46756142	Human	2	name
156007430	CV1989435	single nucleotide variant	NM_024301.5(FKRP):c.707T>C (p.Leu236Pro)	Walker-Warburg congenital muscular dystrophy [RCV002636049]\|not provided [RCV004999791]	uncertain significance	19	46756157	46756157	Human	1	name
156261500	CV1997069	single nucleotide variant	NM_024301.5(FKRP):c.403G>A (p.Ala135Thr)	Walker-Warburg congenital muscular dystrophy [RCV002646229]	uncertain significance	19	46755853	46755853	Human	1	name
156186000	CV2020675	single nucleotide variant	NM_024301.5(FKRP):c.985G>A (p.Val329Met)	Walker-Warburg congenital muscular dystrophy [RCV002710932]	pathogenic\|uncertain significance	19	46756435	46756435	Human	1	name
156195463	CV2024320	single nucleotide variant	NM_024301.5(FKRP):c.346C>T (p.Arg116Cys)	Cardiovascular phenotype [RCV003167676]\|Walker-Warburg congenital muscular dystrophy [RCV002711223]\|not provided [RCV005241511]	uncertain significance	19	46755796	46755796	Human	1	name
155960754	CV2040452	single nucleotide variant	NM_024301.5(FKRP):c.448G>A (p.Ala150Thr)	Walker-Warburg congenital muscular dystrophy [RCV002776256]	uncertain significance	19	46755898	46755898	Human	1	name
155933755	CV2060972	single nucleotide variant	NM_024301.5(FKRP):c.688G>T (p.Gly230Cys)	Walker-Warburg congenital muscular dystrophy [RCV002815219]	uncertain significance	19	46756138	46756138	Human	1	name
10406976	CV208609	single nucleotide variant	NM_024301.5(FKRP):c.426G>T (p.Glu142Asp)	not specified [RCV000194933]	uncertain significance	19	46755876	46755876	Human		name
156039660	CV2097926	deletion	NM_024301.5(FKRP):c.1478del (p.Gly493fs)	Walker-Warburg congenital muscular dystrophy [RCV002885762]	uncertain significance	19	46756926	46756926	Human	1	name
156102649	CV2099340	single nucleotide variant	NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)	Walker-Warburg congenital muscular dystrophy [RCV002913462]	likely pathogenic\|uncertain significance	19	46756385	46756385	Human	1	name
156108829	CV2108141	single nucleotide variant	NM_024301.5(FKRP):c.935G>A (p.Arg312His)	Walker-Warburg congenital muscular dystrophy [RCV002927336]	uncertain significance	19	46756385	46756385	Human	1	name
156237803	CV2108955	single nucleotide variant	NM_024301.5(FKRP):c.372G>C (p.Glu124Asp)	Walker-Warburg congenital muscular dystrophy [RCV002933088]	uncertain significance	19	46755822	46755822	Human	1	name
156371490	CV2109904	single nucleotide variant	NM_024301.5(FKRP):c.863G>T (p.Gly288Val)	Walker-Warburg congenital muscular dystrophy [RCV002942360]	likely pathogenic\|uncertain significance	19	46756313	46756313	Human	1	name
155945238	CV2130180	single nucleotide variant	NM_024301.5(FKRP):c.349C>T (p.Pro117Ser)	Walker-Warburg congenital muscular dystrophy [RCV002971542]	uncertain significance	19	46755799	46755799	Human	1	name
156210191	CV2131566	single nucleotide variant	NM_024301.5(FKRP):c.736C>T (p.Pro246Ser)	Walker-Warburg congenital muscular dystrophy [RCV002985558]	uncertain significance	19	46756186	46756186	Human	1	name
156247755	CV2145656	duplication	NM_024301.5(FKRP):c.1444dup (p.Gln482fs)	Walker-Warburg congenital muscular dystrophy [RCV003008332]	uncertain significance	19	46756889	46756890	Human	1	name
155910495	CV2156983	single nucleotide variant	NM_024301.5(FKRP):c.748A>G (p.Thr250Ala)	Walker-Warburg congenital muscular dystrophy [RCV003012216]	uncertain significance	19	46756198	46756198	Human	1	name
156015061	CV2177397	single nucleotide variant	NM_024301.5(FKRP):c.431T>G (p.Met144Arg)	Walker-Warburg congenital muscular dystrophy [RCV003035442]	uncertain significance	19	46755881	46755881	Human	1	name
156140248	CV2177832	single nucleotide variant	NM_024301.5(FKRP):c.404C>T (p.Ala135Val)	Walker-Warburg congenital muscular dystrophy [RCV003040010]	uncertain significance	19	46755854	46755854	Human	1	name
156298886	CV2180636	single nucleotide variant	NM_024301.5(FKRP):c.632C>G (p.Ser211Trp)	Walker-Warburg congenital muscular dystrophy [RCV003027994]	uncertain significance	19	46756082	46756082	Human	1	name
156141228	CV2191885	single nucleotide variant	NM_024301.5(FKRP):c.487G>A (p.Ala163Thr)	Walker-Warburg congenital muscular dystrophy [RCV003056192]	uncertain significance	19	46755937	46755937	Human	1	name
156297453	CV2246846	single nucleotide variant	NM_024301.5(FKRP):c.569G>C (p.Arg190Pro)	Cardiovascular phenotype [RCV004112658]	uncertain significance	19	46756019	46756019	Human		name
156436098	CV2403698	single nucleotide variant	NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)	Limb-girdle muscular dystrophy [RCV003128221]	uncertain significance	19	46756055	46756055	Human	2	name
243052795	CV2410101	single nucleotide variant	NM_024301.5(FKRP):c.739C>T (p.Pro247Ser)	not provided [RCV003143987]	uncertain significance	19	46756189	46756189	Human		name
243052816	CV2410104	single nucleotide variant	NM_024301.5(FKRP):c.650C>A (p.Pro217Gln)	not provided [RCV003143990]	uncertain significance	19	46756100	46756100	Human		name
243052824	CV2410105	single nucleotide variant	NM_024301.5(FKRP):c.958C>T (p.Arg320Cys)	not provided [RCV003143991]	uncertain significance	19	46756408	46756408	Human		name
243052839	CV2410107	single nucleotide variant	NM_024301.5(FKRP):c.931G>A (p.Glu311Lys)	not provided [RCV003143993]	uncertain significance	19	46756381	46756381	Human		name
329372025	CV2423647	single nucleotide variant	NM_024301.5(FKRP):c.791G>C (p.Arg264Pro)	Cardiovascular phenotype [RCV003172571]	uncertain significance	19	46756241	46756241	Human		name
11349511	CV243354	single nucleotide variant	NM_024301.5(FKRP):c.466G>A (p.Val156Met)	Cardiovascular phenotype [RCV005338114]\|Walker-Warburg congenital muscular dystrophy [RCV000230805]\|not provided [RCV000306319]	likely pathogenic\|uncertain significance	19	46755916	46755916	Human	1	name
11348008	CV243356	single nucleotide variant	NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000670321]\|Cardiovascular phenotype [RCV002365214]\|Walker-Warburg congenital muscular dystrophy [RCV000234060]	pathogenic\|uncertain significance	19	46756105	46756105	Human	2	name
11348442	CV243357	single nucleotide variant	NM_024301.5(FKRP):c.898G>A (p.Val300Met)	Autosomal recessive limb-girdle muscular dystrophy [RCV001731540]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000672226]\|Cardiovascular phenotype [RCV002374378]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000765453]\|Muscular dystrop ... (more) hy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003463680]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV003224238]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005252831]\|Walker-Warburg congenital muscular dystrophy [RCV000226616]\|not provided [RCV000726141]\|not specified [RCV000398763]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756348	46756348	Human	6	name
329400528	CV2438447	single nucleotide variant	NM_024301.5(FKRP):c.436G>A (p.Glu146Lys)	Cardiovascular phenotype [RCV004259598]	uncertain significance	19	46755886	46755886	Human		name
11640546	CV266482	single nucleotide variant	NM_024301.5(FKRP):c.374T>C (p.Phe125Ser)	Walker-Warburg congenital muscular dystrophy [RCV001051049]\|not provided [RCV000339599]	uncertain significance	19	46755824	46755824	Human	1	name
11580531	CV266484	single nucleotide variant	NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000984175]\|Cardiovascular phenotype [RCV004992146]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003463742]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV004796149]\|Walker-Warburg congen ... (more) ital muscular dystrophy [RCV000810074]\|not provided [RCV000336106]	pathogenic\|likely pathogenic	19	46755995	46755995	Human	4	name
11639030	CV267061	single nucleotide variant	NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000673934]\|Cardiovascular phenotype [RCV004021118]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003469227]\|Walker-Warburg congenital muscular dystrophy [RCV002519121]\|not provided [RCV00031 ... (more) 4155]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756036	46756036	Human	3	name
11640139	CV267275	single nucleotide variant	NM_024301.5(FKRP):c.731G>A (p.Arg244His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000664793]\|Cardiovascular phenotype [RCV002379117]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV005396872]\|Walker-Warburg congenital muscular dystrophy [RCV000457561]\|not provided [RCV00072 ... (more) 5201]\|not specified [RCV000331999]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756181	46756181	Human	5	name
11640904	CV267468	single nucleotide variant	NM_024301.5(FKRP):c.401G>C (p.Arg134Pro)	not provided [RCV000347401]	uncertain significance	19	46755851	46755851	Human		name
11577994	CV268881	single nucleotide variant	NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003463757]\|Walker-Warburg congenital muscular dystrophy [RCV001859606]\|not provided [RCV000272017]	pathogenic\|likely pathogenic	19	46755763	46755763	Human	2	name
11639481	CV268926	single nucleotide variant	NM_024301.5(FKRP):c.803T>G (p.Leu268Arg)	Walker-Warburg congenital muscular dystrophy [RCV002518945]\|not provided [RCV000320524]	uncertain significance	19	46756253	46756253	Human	1	name
11635903	CV269112	single nucleotide variant	NM_024301.5(FKRP):c.731G>T (p.Arg244Leu)	Cardiovascular phenotype [RCV002379129]\|Walker-Warburg congenital muscular dystrophy [RCV002519161]\|not provided [RCV000259631]	uncertain significance	19	46756181	46756181	Human	1	name
11636385	CV269533	single nucleotide variant	NM_024301.5(FKRP):c.557C>T (p.Pro186Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272542]\|Cardiovascular phenotype [RCV005338125]\|Walker-Warburg congenital muscular dystrophy [RCV001065813]\|not provided [RCV000266806]	uncertain significance	19	46756007	46756007	Human	2	name
11639690	CV269670	single nucleotide variant	NM_024301.5(FKRP):c.544T>C (p.Tyr182His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000673996]\|Cardiovascular phenotype [RCV002348000]\|Walker-Warburg congenital muscular dystrophy [RCV001859617]\|not provided [RCV000324567]	likely pathogenic\|uncertain significance	19	46755994	46755994	Human	2	name
11639591	CV270698	single nucleotide variant	NM_024301.5(FKRP):c.892G>C (p.Gly298Arg)	not provided [RCV000323602]	uncertain significance	19	46756342	46756342	Human		name
11637379	CV271057	single nucleotide variant	NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275314]\|Cardiovascular phenotype [RCV002356388]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002504004]\|Walker-Warburg congenital muscular dystrophy [RCV000820298]\|not provided [RCV00028 ... (more) 3493]	uncertain significance	19	46756063	46756063	Human	5	name
11644070	CV272835	single nucleotide variant	NM_024301.5(FKRP):c.385G>C (p.Val129Leu)	Cardiovascular phenotype [RCV003165762]\|Walker-Warburg congenital muscular dystrophy [RCV001855210]\|not provided [RCV000404303]\|not specified [RCV005418052]	uncertain significance	19	46755835	46755835	Human	1	name
11633863	CV273333	deletion	NM_024301.5(FKRP):c.1267del (p.Arg423fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV002272206]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004567836]\|Walker-Warburg congenital muscular dystrophy [RCV003754873]\|not provided [RCV000376382]	pathogenic\|likely pathogenic	19	46756713	46756713	Human	3	name
401754918	CV2734624	single nucleotide variant	NM_024301.5(FKRP):c.782G>A (p.Gly261Glu)	Cardiovascular phenotype [RCV003278185]	uncertain significance	19	46756232	46756232	Human		name
401754920	CV2734626	single nucleotide variant	NM_024301.5(FKRP):c.821T>A (p.Ile274Asn)	Cardiovascular phenotype [RCV003278186]	uncertain significance	19	46756271	46756271	Human		name
11633737	CV273487	deletion	NM_024301.5(FKRP):c.1141del (p.Ala381fs)	Walker-Warburg congenital muscular dystrophy [RCV003114455]\|not provided [RCV000363445]	pathogenic	19	46756586	46756586	Human	1	name
11642591	CV273709	single nucleotide variant	NM_024301.5(FKRP):c.395G>A (p.Gly132Glu)	Walker-Warburg congenital muscular dystrophy [RCV000473686]\|not provided [RCV000376960]	uncertain significance	19	46755845	46755845	Human	1	name
11632750	CV273710	single nucleotide variant	NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000282481]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005230229]\|Walker-Warburg congenital muscular dystrophy [RCV000461986]\|not provided [RCV000726333]	pathogenic\|likely pathogenic	19	46756420	46756420	Human	3	name
11644197	CV273802	single nucleotide variant	NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275311]\|Cardiovascular phenotype [RCV002338856]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000765452]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV003224253]\|Walker-Warburg congen ... (more) ital muscular dystrophy [RCV000464325]\|not provided [RCV000710136]\|not specified [RCV000408156]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46755906	46755906	Human	5	name
11641483	CV273959	single nucleotide variant	NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273518]\|Cardiovascular phenotype [RCV002374484]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000765454]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005016682]\|Walker-Warburg congen ... (more) ital muscular dystrophy [RCV000469653]\|not provided [RCV000356554]	likely benign\|uncertain significance	19	46756354	46756354	Human	5	name
11642936	CV274331	single nucleotide variant	NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001833398]\|Walker-Warburg congenital muscular dystrophy [RCV000460118]\|not provided [RCV000383820]	likely pathogenic\|uncertain significance	19	46756082	46756082	Human	2	name
401829500	CV2743832	single nucleotide variant	NM_024301.5(FKRP):c.689G>T (p.Gly230Val)	not provided [RCV003327009]	uncertain significance	19	46756139	46756139	Human		name
11642211	CV274454	single nucleotide variant	NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001835769]\|Cardiovascular phenotype [RCV004992165]\|Walker-Warburg congenital muscular dystrophy [RCV001327233]\|not provided [RCV000369694]	uncertain significance	19	46755769	46755769	Human	2	name
11642478	CV274826	single nucleotide variant	NM_024301.5(FKRP):c.749C>G (p.Thr250Arg)	not provided [RCV000374832]	uncertain significance	19	46756199	46756199	Human		name
401870699	CV2749400	single nucleotide variant	NM_024301.5(FKRP):c.467T>C (p.Val156Ala)	not provided [RCV003332528]	uncertain significance	19	46755917	46755917	Human		name
401873733	CV2749792	single nucleotide variant	NM_024301.5(FKRP):c.484A>G (p.Thr162Ala)	not provided [RCV003332921]	uncertain significance	19	46755934	46755934	Human		name
11641464	CV275166	single nucleotide variant	NM_024301.5(FKRP):c.682C>T (p.Leu228Phe)	Walker-Warburg congenital muscular dystrophy [RCV002519348]\|not provided [RCV000357213]	uncertain significance	19	46756132	46756132	Human	1	name
401859479	CV2757025	single nucleotide variant	NM_024301.5(FKRP):c.874G>A (p.Glu292Lys)	Cardiovascular phenotype [RCV003341895]	uncertain significance	19	46756324	46756324	Human		name
401941258	CV2835815	deletion	NM_024301.5(FKRP):c.1336del (p.Leu446fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461574]\|Walker-Warburg congenital muscular dystrophy [RCV003755043]	pathogenic\|likely pathogenic	19	46756785	46756785	Human	2	name
401941260	CV2835819	single nucleotide variant	NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461576]	pathogenic	19	46756388	46756388	Human	1	name
401942644	CV2835823	single nucleotide variant	NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003468200]	likely pathogenic	19	46756434	46756434	Human	1	name
401941363	CV2835833	single nucleotide variant	NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461585]	likely pathogenic	19	46755802	46755802	Human	1	name
404979407	CV2850104	single nucleotide variant	NM_024301.5(FKRP):c.821T>C (p.Ile274Thr)	Cardiovascular phenotype [RCV005335785]\|not provided [RCV003487822]	uncertain significance	19	46756271	46756271	Human		name
405046857	CV2865276	single nucleotide variant	NM_024301.5(FKRP):c.497C>G (p.Ala166Gly)	Walker-Warburg congenital muscular dystrophy [RCV003592491]	uncertain significance	19	46755947	46755947	Human	1	name
405056503	CV2905480	single nucleotide variant	NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)	Walker-Warburg congenital muscular dystrophy [RCV003593341]\|not specified [RCV004690437]	likely pathogenic\|uncertain significance	19	46755800	46755800	Human	1	name
405142582	CV2964872	single nucleotide variant	NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV004554923]\|Walker-Warburg congenital muscular dystrophy [RCV003755382]	uncertain significance	19	46756088	46756088	Human	2	name
405141905	CV2972066	single nucleotide variant	NM_024301.5(FKRP):c.587G>T (p.Gly196Val)	Walker-Warburg congenital muscular dystrophy [RCV003755395]	likely pathogenic	19	46756037	46756037	Human	1	name
405144363	CV3002562	single nucleotide variant	NM_024301.5(FKRP):c.950G>A (p.Cys317Tyr)	Cardiovascular phenotype [RCV005335847]\|Walker-Warburg congenital muscular dystrophy [RCV003755660]	uncertain significance	19	46756400	46756400	Human	1	name
405146049	CV3010392	deletion	NM_024301.5(FKRP):c.1429del (p.Val477fs)	Walker-Warburg congenital muscular dystrophy [RCV003755850]	pathogenic	19	46756876	46756876	Human	1	name
405146659	CV3029031	single nucleotide variant	NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)	Walker-Warburg congenital muscular dystrophy [RCV003755909]	pathogenic	19	46756307	46756307	Human	1	name
405148523	CV3033440	single nucleotide variant	NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)	Walker-Warburg congenital muscular dystrophy [RCV003756068]	likely pathogenic	19	46756390	46756390	Human	1	name
405154328	CV3073807	duplication	NM_024301.5(FKRP):c.1208dup (p.Arg404fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004573283]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005030252]\|Walker-Warburg congenital muscular dystrophy [RCV003756534]	pathogenic\|likely pathogenic	19	46756653	46756654	Human	3	name
405153207	CV3079297	single nucleotide variant	NM_024301.5(FKRP):c.538G>T (p.Ala180Ser)	Walker-Warburg congenital muscular dystrophy [RCV003756520]	uncertain significance	19	46755988	46755988	Human	1	name
405184482	CV3152805	single nucleotide variant	NM_024301.5(FKRP):c.983A>G (p.Tyr328Cys)	Walker-Warburg congenital muscular dystrophy [RCV003842796]	uncertain significance	19	46756433	46756433	Human	1	name
405780409	CV3260739	single nucleotide variant	NM_024301.5(FKRP):c.463C>G (p.Leu155Val)	Cardiovascular phenotype [RCV004386674]	uncertain significance	19	46755913	46755913	Human		name
405682318	CV3391039	single nucleotide variant	NM_024301.5(FKRP):c.478G>C (p.Val160Leu)	Cardiovascular phenotype [RCV004517577]	uncertain significance	19	46755928	46755928	Human		name
405682321	CV3391040	single nucleotide variant	NM_024301.5(FKRP):c.481G>A (p.Ala161Thr)	Cardiovascular phenotype [RCV004517578]	uncertain significance	19	46755931	46755931	Human		name
405682325	CV3391041	single nucleotide variant	NM_024301.5(FKRP):c.575A>G (p.Asp192Gly)	Cardiovascular phenotype [RCV004517579]	uncertain significance	19	46756025	46756025	Human		name
405682329	CV3391042	single nucleotide variant	NM_024301.5(FKRP):c.997C>G (p.Leu333Val)	Cardiovascular phenotype [RCV004517580]	uncertain significance	19	46756447	46756447	Human		name
405868780	CV3400601	single nucleotide variant	NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004576604]	likely pathogenic	19	46756308	46756308	Human	1	name
405868794	CV3400607	deletion	NM_024301.5(FKRP):c.74_80del (p.Ser25fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004576610]	likely pathogenic	19	46755522	46755528	Human	1	name
405868797	CV3400608	single nucleotide variant	NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004576611]	likely pathogenic	19	46756401	46756401	Human	1	name
407475877	CV3494713	single nucleotide variant	NM_024301.5(FKRP):c.808C>T (p.Arg270Cys)	not specified [RCV004690612]	uncertain significance	19	46756258	46756258	Human		name
12741242	CV360566	single nucleotide variant	NM_024301.4(FKRP):c.317C>T (p.Pro106Leu)	not specified [RCV000414509]	uncertain significance	19	46755767	46755767	Human		name
597662880	CV3705757	single nucleotide variant	NM_024301.5(FKRP):c.899T>A (p.Val300Glu)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005028697]	likely pathogenic	19	46756349	46756349	Human	1	name
597662889	CV3705758	single nucleotide variant	NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005028698]	likely pathogenic	19	46756377	46756377	Human	1	name
597651681	CV3730577	single nucleotide variant	NM_024301.5(FKRP):c.534G>T (p.Trp178Cys)	not provided [RCV005000867]	uncertain significance	19	46755984	46755984	Human		name
12841380	CV376625	single nucleotide variant	NM_024301.5(FKRP):c.511C>G (p.Leu171Val)	Walker-Warburg congenital muscular dystrophy [RCV000475297]\|not provided [RCV000432470]	uncertain significance	19	46755961	46755961	Human	1	name
597855445	CV3781075	deletion	NM_024301.5(FKRP):c.1312del (p.Asp438fs)	Walker-Warburg congenital muscular dystrophy [RCV005129957]	pathogenic	19	46756761	46756761	Human	1	name
597869340	CV3798512	single nucleotide variant	NM_024301.5(FKRP):c.862G>A (p.Gly288Ser)	Walker-Warburg congenital muscular dystrophy [RCV005144100]\|not specified [RCV005407391]	pathogenic\|uncertain significance	19	46756312	46756312	Human	1	name
597902384	CV3835852	single nucleotide variant	NM_024301.5(FKRP):c.870C>A (p.Asn290Lys)	Walker-Warburg congenital muscular dystrophy [RCV005176843]	uncertain significance	19	46756320	46756320	Human	1	name
597906511	CV3835932	single nucleotide variant	NM_024301.5(FKRP):c.862G>C (p.Gly288Arg)	Walker-Warburg congenital muscular dystrophy [RCV005181467]	likely pathogenic	19	46756312	46756312	Human	1	name
597926377	CV3856843	single nucleotide variant	NM_024301.5(FKRP):c.337G>T (p.Ala113Ser)	Walker-Warburg congenital muscular dystrophy [RCV005200908]	uncertain significance	19	46755787	46755787	Human	1	name
598122708	CV3884640	single nucleotide variant	NM_024301.5(FKRP):c.943C>T (p.Pro315Ser)	not specified [RCV005237332]	uncertain significance	19	46756393	46756393	Human		name
598227730	CV3894541	single nucleotide variant	NM_024301.5(FKRP):c.627C>A (p.Asn209Lys)	not provided [RCV005257784]	uncertain significance	19	46756077	46756077	Human		name
598200964	CV3976807	single nucleotide variant	NM_024301.5(FKRP):c.614G>C (p.Arg205Pro)	Cardiovascular phenotype [RCV005336746]	uncertain significance	19	46756064	46756064	Human		name
598200972	CV3976809	single nucleotide variant	NM_024301.5(FKRP):c.893G>A (p.Gly298Glu)	Cardiovascular phenotype [RCV005336748]	uncertain significance	19	46756343	46756343	Human		name
616933690	CV4011651	single nucleotide variant	NM_024301.5(FKRP):c.956T>G (p.Leu319Arg)	not specified [RCV005408200]	uncertain significance	19	46756406	46756406	Human		name
12884111	CV403274	single nucleotide variant	NM_024301.5(FKRP):c.364G>A (p.Ala122Thr)	Cardiovascular phenotype [RCV004022697]\|Walker-Warburg congenital muscular dystrophy [RCV000462869]	likely benign\|uncertain significance	19	46755814	46755814	Human	1	name
12882160	CV403314	single nucleotide variant	NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	Autosomal recessive limb-girdle muscular dystrophy [RCV005239030]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272539]\|Cardiovascular phenotype [RCV002446816]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000765451]\|Muscular dystrop ... (more) hy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003463910]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005027515]\|Walker-Warburg congenital muscular dystrophy [RCV000459145]\|not provided [RCV000991999]	pathogenic\|likely pathogenic\|uncertain significance	19	46755778	46755778	Human	6	name
12880768	CV403324	single nucleotide variant	NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275310]\|Walker-Warburg congenital muscular dystrophy [RCV000456630]\|not provided [RCV002461191]	uncertain significance	19	46755829	46755829	Human	2	name
12888056	CV403336	single nucleotide variant	NM_024301.5(FKRP):c.820A>T (p.Ile274Phe)	Walker-Warburg congenital muscular dystrophy [RCV000470213]	uncertain significance	19	46756270	46756270	Human	1	name
12906575	CV415662	single nucleotide variant	NM_024301.5(FKRP):c.563C>T (p.Ala188Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001834588]\|Cardiovascular phenotype [RCV002350087]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002475962]\|Walker-Warburg congenital muscular dystrophy [RCV001242700]\|not provided [RCV00314 ... (more) 4287]\|not specified [RCV000489382]	uncertain significance	19	46756013	46756013	Human	5	name
12906594	CV415663	single nucleotide variant	NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001835825]\|Walker-Warburg congenital muscular dystrophy [RCV002527020]\|not provided [RCV000489405]	uncertain significance	19	46756429	46756429	Human	2	name
13207687	CV424236	single nucleotide variant	NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 [RCV000495943]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 [RCV005208139]\|not provided [RCV003144291]	pathogenic\|uncertain significance	19	46756129	46756129	Human	4	name
13472866	CV446151	single nucleotide variant	NM_024301.5(FKRP):c.628C>G (p.Leu210Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273517]\|Cardiovascular phenotype [RCV002367746]\|Walker-Warburg congenital muscular dystrophy [RCV000697869]\|not provided [RCV000519238]	uncertain significance	19	46756078	46756078	Human	2	name
13468934	CV469917	single nucleotide variant	NM_024301.5(FKRP):c.397G>T (p.Ala133Ser)	Walker-Warburg congenital muscular dystrophy [RCV000560502]	uncertain significance	19	46755847	46755847	Human	1	name
13466097	CV469918	single nucleotide variant	NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001834765]\|Cardiovascular phenotype [RCV002395328]\|Walker-Warburg congenital muscular dystrophy [RCV000549762]	uncertain significance	19	46756207	46756207	Human	2	name
13464385	CV470347	single nucleotide variant	NM_024301.5(FKRP):c.610G>A (p.Ala204Thr)	Walker-Warburg congenital muscular dystrophy [RCV000541826]	uncertain significance	19	46756060	46756060	Human	1	name
13500337	CV471029	single nucleotide variant	NM_024301.5(FKRP):c.446G>A (p.Arg149His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001834764]\|Cardiovascular phenotype [RCV003159768]\|Walker-Warburg congenital muscular dystrophy [RCV000536541]	uncertain significance	19	46755896	46755896	Human	2	name
13517194	CV489693	single nucleotide variant	NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000674695]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003459466]\|Walker-Warburg congenital muscular dystrophy [RCV000810990]\|not provided [RCV000596371]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756273	46756273	Human	3	name
13516342	CV491659	single nucleotide variant	NM_024301.5(FKRP):c.344C>T (p.Ser115Leu)	Cardiovascular phenotype [RCV003278929]\|Walker-Warburg congenital muscular dystrophy [RCV001854056]\|not provided [RCV000595411]	uncertain significance	19	46755794	46755794	Human	1	name
13515586	CV493250	single nucleotide variant	NM_024301.5(FKRP):c.775C>T (p.Arg259Cys)	Cardiovascular phenotype [RCV004992377]\|Walker-Warburg congenital muscular dystrophy [RCV002532625]\|not provided [RCV000594461]	uncertain significance	19	46756225	46756225	Human	1	name
13516308	CV493619	single nucleotide variant	NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272543]\|Cardiovascular phenotype [RCV003160058]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005004265]\|Walker-Warburg congenital muscular dystrophy [RCV000634060]\|not provided [RCV000711664]	uncertain significance	19	46756012	46756012	Human	4	name
13617296	CV533082	single nucleotide variant	NM_024301.5(FKRP):c.740C>G (p.Pro247Arg)	Walker-Warburg congenital muscular dystrophy [RCV000634075]	uncertain significance	19	46756190	46756190	Human	1	name
13617258	CV533084	single nucleotide variant	NM_024301.5(FKRP):c.836G>C (p.Trp279Ser)	Walker-Warburg congenital muscular dystrophy [RCV000634049]	uncertain significance	19	46756286	46756286	Human	1	name
13617270	CV533164	single nucleotide variant	NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275313]\|Cardiovascular phenotype [RCV002343234]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002492962]\|Walker-Warburg congenital muscular dystrophy [RCV000634057]\|not provided [RCV00159 ... (more) 1411]	uncertain significance	19	46755991	46755991	Human	5	name
13617292	CV533194	single nucleotide variant	NM_024301.5(FKRP):c.968G>A (p.Arg323His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000662005]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000662004]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001171504]\|Walker-Warburg congenital muscular dystrophy [RCV000634072]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756418	46756418	Human	3	name
13617279	CV533605	single nucleotide variant	NM_024301.5(FKRP):c.539C>A (p.Ala180Asp)	Walker-Warburg congenital muscular dystrophy [RCV000634062]	uncertain significance	19	46755989	46755989	Human	1	name
13617260	CV533608	single nucleotide variant	NM_024301.5(FKRP):c.554C>T (p.Ala185Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001829782]\|Cardiovascular phenotype [RCV002343233]\|Walker-Warburg congenital muscular dystrophy [RCV000634050]	uncertain significance	19	46756004	46756004	Human	2	name
13785471	CV548862	single nucleotide variant	NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000672053]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003459634]\|Walker-Warburg congenital muscular dystrophy [RCV001868261]	pathogenic\|likely pathogenic	19	46755976	46755976	Human	3	name
13787893	CV548879	single nucleotide variant	NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	Autosomal recessive limb-girdle muscular dystrophy [RCV003226352]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000665088]\|Cardiovascular phenotype [RCV002369793]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002499146]\|Muscular dystrop ... (more) hy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003465438]\|Walker-Warburg congenital muscular dystrophy [RCV001055645]\|not provided [RCV000760366]	pathogenic\|likely pathogenic	19	46756378	46756378	Human	6	name
13783085	CV548906	single nucleotide variant	NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000669672]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002499167]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003459613]\|Walker-Warburg con ... (more) genital muscular dystrophy [RCV001855524]	pathogenic\|likely pathogenic	19	46756228	46756228	Human	4	name
13789059	CV548932	deletion	NM_024301.5(FKRP):c.1119del (p.Asn374fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000674304]	likely pathogenic	19	46756569	46756569	Human	1	name
13787855	CV549196	single nucleotide variant	NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000673672]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003465529]\|not specified [RCV004586874]	likely pathogenic\|uncertain significance	19	46755952	46755952	Human	2	name
13791203	CV549206	deletion	NM_024301.5(FKRP):c.1208del (p.Phe403fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000667203]	uncertain significance	19	46756654	46756654	Human	1	name
13788943	CV549374	single nucleotide variant	NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000665682]	likely pathogenic	19	46756381	46756381	Human	1	name
13785967	CV549376	duplication	NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000672422]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003459638]\|Walker-Warburg congenital muscular dystrophy [RCV000688076]\|not provided [RCV002282320]	pathogenic\|likely pathogenic	19	46756585	46756586	Human	3	name
13785389	CV549377	deletion	NM_024301.5(FKRP):c.1415del (p.Lys472fs)	Autosomal recessive limb-girdle muscular dystrophy [RCV002233101]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000671966]\|Cardiovascular phenotype [RCV003163067]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003459632]\|Walker-Warburg c ... (more) ongenital muscular dystrophy [RCV005091953]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	19	46756864	46756864	Human	4	name
13786110	CV549378	deletion	NM_024301.5(FKRP):c.1475del (p.Thr492fs)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000672588]	likely pathogenic	19	46756925	46756925	Human	1	name
13808473	CV570859	single nucleotide variant	NM_024301.5(FKRP):c.298C>T (p.Arg100Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272538]\|Walker-Warburg congenital muscular dystrophy [RCV000687283]	uncertain significance	19	46755748	46755748	Human	2	name
13805874	CV570864	single nucleotide variant	NM_024301.5(FKRP):c.430A>G (p.Met144Val)	Walker-Warburg congenital muscular dystrophy [RCV000700331]	uncertain significance	19	46755880	46755880	Human	1	name
13801491	CV570865	single nucleotide variant	NM_024301.5(FKRP):c.608G>A (p.Arg203His)	Walker-Warburg congenital muscular dystrophy [RCV000697876]	uncertain significance	19	46756058	46756058	Human	1	name
13810391	CV570871	single nucleotide variant	NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825385]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002507227]\|Walker-Warburg congenital muscular dystrophy [RCV000702546]	uncertain significance	19	46756301	46756301	Human	3	name
13822160	CV572544	single nucleotide variant	NM_024301.5(FKRP):c.601C>T (p.Leu201Phe)	Walker-Warburg congenital muscular dystrophy [RCV000696827]	uncertain significance	19	46756051	46756051	Human	1	name
13816448	CV573192	single nucleotide variant	NM_024301.5(FKRP):c.706C>G (p.Leu236Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830508]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002485652]\|Walker-Warburg congenital muscular dystrophy [RCV000692322]	uncertain significance	19	46756156	46756156	Human	3	name
13809573	CV577811	single nucleotide variant	NM_024301.5(FKRP):c.517G>A (p.Val173Ile)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272540]\|Cardiovascular phenotype [RCV003303203]\|Walker-Warburg congenital muscular dystrophy [RCV000809832]\|not provided [RCV000711663]	uncertain significance	19	46755967	46755967	Human	2	name
13836609	CV587886	single nucleotide variant	NM_024301.5(FKRP):c.760C>T (p.Arg254Cys)	not provided [RCV000732784]	uncertain significance	19	46756210	46756210	Human		name
13838104	CV589399	single nucleotide variant	NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825484]\|Cardiovascular phenotype [RCV002343606]\|Walker-Warburg congenital muscular dystrophy [RCV001239053]\|not provided [RCV000734707]	uncertain significance	19	46755974	46755974	Human	2	name
14708162	CV648185	single nucleotide variant	NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001825610]\|Cardiovascular phenotype [RCV002325575]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005004440]\|Walker-Warburg congenital muscular dystrophy [RCV000809005]\|not provided [RCV001772089]	uncertain significance	19	46755766	46755766	Human	4	name
14722613	CV648186	single nucleotide variant	NM_024301.5(FKRP):c.386T>A (p.Val129Glu)	Walker-Warburg congenital muscular dystrophy [RCV000813998]	uncertain significance	19	46755836	46755836	Human	1	name
14740814	CV648187	single nucleotide variant	NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830747]\|Cardiovascular phenotype [RCV003166247]\|Walker-Warburg congenital muscular dystrophy [RCV000805524]	uncertain significance	19	46755892	46755892	Human	2	name
14719094	CV648189	single nucleotide variant	NM_024301.5(FKRP):c.551C>T (p.Ala184Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001272541]\|Cardiovascular phenotype [RCV002345755]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002495044]\|Walker-Warburg congenital muscular dystrophy [RCV000796018]	uncertain significance	19	46756001	46756001	Human	5	name
14706475	CV648190	single nucleotide variant	NM_024301.5(FKRP):c.640C>G (p.Leu214Val)	Walker-Warburg congenital muscular dystrophy [RCV000808458]	uncertain significance	19	46756090	46756090	Human	1	name
14720671	CV648191	single nucleotide variant	NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)	Cardiovascular phenotype [RCV002372288]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002478891]\|Walker-Warburg congenital muscular dystrophy [RCV000813120]	likely benign\|uncertain significance	19	46756383	46756383	Human	5	name
14743365	CV648193	single nucleotide variant	NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830821]\|Cardiovascular phenotype [RCV002381877]\|Walker-Warburg congenital muscular dystrophy [RCV000823403]	uncertain significance	19	46756422	46756422	Human	2	name
14725911	CV648194	single nucleotide variant	NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273519]\|Cardiovascular phenotype [RCV002386412]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV003483731]\|Walker-Warburg congenital muscular dystrophy [RCV000799009]\|not provided [RCV001772057]	uncertain significance\|not provided	19	46756426	46756426	Human	4	name
26894753	CV847771	single nucleotide variant	NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275309]\|Cardiovascular phenotype [RCV002320323]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001336095]\|Walker-Warburg congenital muscular dystrophy [RCV001063677]\|not provided [RCV00246 ... (more) 2309]	likely benign\|uncertain significance	19	46755773	46755773	Human	3	name
26895405	CV847772	single nucleotide variant	NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001827410]\|Walker-Warburg congenital muscular dystrophy [RCV001064007]	uncertain significance	19	46755941	46755941	Human	2	name
26897277	CV847773	single nucleotide variant	NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)	Cardiovascular phenotype [RCV002393317]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002479385]\|Walker-Warburg congenital muscular dystrophy [RCV001065504]	uncertain significance	19	46756213	46756213	Human	5	name
26885712	CV847774	single nucleotide variant	NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001827338]\|Cardiovascular phenotype [RCV002416396]\|Walker-Warburg congenital muscular dystrophy [RCV001053933]\|not provided [RCV003480932]	uncertain significance	19	46756244	46756244	Human	2	name
26890240	CV847775	single nucleotide variant	NM_024301.5(FKRP):c.838G>A (p.Glu280Lys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002482037]\|Walker-Warburg congenital muscular dystrophy [RCV001059045]	uncertain significance	19	46756288	46756288	Human	2	name
34891637	CV906272	single nucleotide variant	NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001175208]	likely pathogenic	19	46756333	46756333	Human	1	name
38461095	CV919879	single nucleotide variant	NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003469313]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001196908]\|Walker-Warburg congenital muscular dystrophy [RCV002561048]	pathogenic\|uncertain significance\|no classifications from unflagged records	19	46756412	46756412	Human	3	name
38481110	CV928996	single nucleotide variant	NM_024301.5(FKRP):c.427C>T (p.Arg143Cys)	Walker-Warburg congenital muscular dystrophy [RCV001217857]	uncertain significance	19	46755877	46755877	Human	1	name
38479001	CV928997	single nucleotide variant	NM_024301.5(FKRP):c.592G>A (p.Ala198Thr)	Walker-Warburg congenital muscular dystrophy [RCV001216873]	uncertain significance	19	46756042	46756042	Human	1	name
38486857	CV928998	single nucleotide variant	NM_024301.5(FKRP):c.667T>G (p.Phe223Val)	Walker-Warburg congenital muscular dystrophy [RCV001220477]	uncertain significance	19	46756117	46756117	Human	1	name
38468792	CV938732	single nucleotide variant	NM_024301.5(FKRP):c.569G>A (p.Arg190His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828625]\|Cardiovascular phenotype [RCV002348654]\|Walker-Warburg congenital muscular dystrophy [RCV001202297]\|not provided [RCV001751372]	uncertain significance	19	46756019	46756019	Human	2	name
38485211	CV938733	single nucleotide variant	NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001833831]\|Cardiovascular phenotype [RCV004033726]\|Walker-Warburg congenital muscular dystrophy [RCV001208376]\|not provided [RCV003145380]	likely benign\|uncertain significance	19	46756195	46756195	Human	2	name
38472980	CV938734	single nucleotide variant	NM_024301.5(FKRP):c.780G>C (p.Glu260Asp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828632]\|Walker-Warburg congenital muscular dystrophy [RCV001203338]	uncertain significance	19	46756230	46756230	Human	2	name
38458735	CV938735	single nucleotide variant	NM_024301.5(FKRP):c.891C>G (p.Phe297Leu)	Walker-Warburg congenital muscular dystrophy [RCV001211484]	uncertain significance	19	46756341	46756341	Human	1	name
38472683	CV950823	single nucleotide variant	NM_024301.5(FKRP):c.315G>T (p.Gln105His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828848]\|Cardiovascular phenotype [RCV002322116]\|Walker-Warburg congenital muscular dystrophy [RCV001231603]\|not provided [RCV003145442]	uncertain significance	19	46755765	46755765	Human	2	name
38462386	CV950824	single nucleotide variant	NM_024301.5(FKRP):c.548G>A (p.Gly183Asp)	Walker-Warburg congenital muscular dystrophy [RCV001229708]	uncertain significance	19	46755998	46755998	Human	1	name
38476943	CV950828	deletion	NM_024301.5(FKRP):c.1238del (p.Leu413fs)	Walker-Warburg congenital muscular dystrophy [RCV001233304]	pathogenic	19	46756687	46756687	Human	1	name
38494467	CV958662	single nucleotide variant	NM_024301.5(FKRP):c.299G>A (p.Arg100His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001836210]\|Walker-Warburg congenital muscular dystrophy [RCV001241329]\|not provided [RCV003481018]	uncertain significance	19	46755749	46755749	Human	2	name
38498071	CV958663	single nucleotide variant	NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001835175]\|Cardiovascular phenotype [RCV002375289]\|Walker-Warburg congenital muscular dystrophy [RCV001243589]	uncertain significance	19	46755844	46755844	Human	2	name
38462380	CV958664	single nucleotide variant	NM_024301.5(FKRP):c.478G>T (p.Val160Phe)	Walker-Warburg congenital muscular dystrophy [RCV001247136]	uncertain significance	19	46755928	46755928	Human	1	name
38495540	CV958665	single nucleotide variant	NM_024301.5(FKRP):c.677C>A (p.Thr226Asn)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828989]\|Cardiovascular phenotype [RCV005340719]\|Walker-Warburg congenital muscular dystrophy [RCV001242001]	uncertain significance	19	46756127	46756127	Human	2	name
38461714	CV958666	single nucleotide variant	NM_024301.5(FKRP):c.725C>T (p.Ala242Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001835287]\|Cardiovascular phenotype [RCV004994375]\|Walker-Warburg congenital muscular dystrophy [RCV001247009]\|not provided [RCV001773562]	uncertain significance	19	46756175	46756175	Human	2	name
38460841	CV958668	single nucleotide variant	NM_024301.5(FKRP):c.943C>G (p.Pro315Ala)	Walker-Warburg congenital muscular dystrophy [RCV001246818]	uncertain significance	19	46756393	46756393	Human	1	name
40906038	CV979989	single nucleotide variant	NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001279353]\|not specified [RCV003323845]	uncertain significance	19	46755845	46755845	Human	1	name
40906039	CV979990	single nucleotide variant	NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001279354]	uncertain significance	19	46755995	46755995	Human	1	name
126756403	CV998661	single nucleotide variant	NM_024301.5(FKRP):c.347G>T (p.Arg116Leu)	Walker-Warburg congenital muscular dystrophy [RCV001308102]	uncertain significance	19	46755797	46755797	Human	1	name
126753040	CV998662	single nucleotide variant	NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830145]\|Cardiovascular phenotype [RCV002350531]\|Walker-Warburg congenital muscular dystrophy [RCV001297833]	uncertain significance	19	46755977	46755977	Human	2	name
126754074	CV998663	single nucleotide variant	NM_024301.5(FKRP):c.755A>T (p.His252Leu)	Walker-Warburg congenital muscular dystrophy [RCV001307543]	uncertain significance	19	46756205	46756205	Human	1	name
126735742	CV998664	single nucleotide variant	NM_024301.5(FKRP):c.794G>A (p.Arg265Gln)	Walker-Warburg congenital muscular dystrophy [RCV001295123]	uncertain significance	19	46756244	46756244	Human	1	name
126756843	CV998665	single nucleotide variant	NM_024301.5(FKRP):c.809G>A (p.Arg270His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830242]\|Walker-Warburg congenital muscular dystrophy [RCV001308238]\|not specified [RCV005236785]	uncertain significance	19	46756259	46756259	Human	2	name
126755213	CV998666	single nucleotide variant	NM_024301.5(FKRP):c.976G>T (p.Ala326Ser)	Walker-Warburg congenital muscular dystrophy [RCV001298301]	uncertain significance	19	46756426	46756426	Human	1	name
127296309	CV1162290	single nucleotide variant	NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001527407]	uncertain significance	19	46756580	46756580	Human	1	name
150542717	CV1302684	single nucleotide variant	NM_024301.5(FKRP):c.1187A>C (p.Lys396Thr)	not provided [RCV001761374]	uncertain significance	19	46756637	46756637	Human		name
150553927	CV1309605	single nucleotide variant	NM_024301.5(FKRP):c.1051G>C (p.Ala351Pro)	not provided [RCV003238650]	uncertain significance	19	46756501	46756501	Human		name
151234713	CV1320434	single nucleotide variant	NM_024301.5(FKRP):c.1382C>G (p.Ala461Gly)	not provided [RCV001800058]	uncertain significance	19	46756832	46756832	Human		name
151885841	CV1341016	single nucleotide variant	NM_024301.5(FKRP):c.1060G>C (p.Gly354Arg)	Walker-Warburg congenital muscular dystrophy [RCV001962632]	uncertain significance	19	46756510	46756510	Human	1	name
8657554	CV134501	single nucleotide variant	NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)	Walker-Warburg congenital muscular dystrophy [RCV001520188]\|not provided [RCV000117036]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756477	46756477	Human	1	name
151869218	CV1352998	single nucleotide variant	NM_024301.5(FKRP):c.1171G>C (p.Gly391Arg)	Walker-Warburg congenital muscular dystrophy [RCV001906252]	uncertain significance	19	46756621	46756621	Human	1	name
151864881	CV1361401	single nucleotide variant	NM_024301.5(FKRP):c.1183G>C (p.Glu395Gln)	Walker-Warburg congenital muscular dystrophy [RCV001905764]	uncertain significance	19	46756633	46756633	Human	1	name
151797319	CV1392823	single nucleotide variant	NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	Cardiovascular phenotype [RCV002407033]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002490215]\|Walker-Warburg congenital muscular dystrophy [RCV001898738]	uncertain significance	19	46756511	46756511	Human	5	name
151796592	CV1400898	single nucleotide variant	NM_024301.5(FKRP):c.1151G>C (p.Gly384Ala)	Walker-Warburg congenital muscular dystrophy [RCV002011181]	uncertain significance	19	46756601	46756601	Human	1	name
8691124	CV141083	single nucleotide variant	NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275320]\|Cardiovascular phenotype [RCV002336274]\|FKRP-related disorder [RCV004530080]\|Walker-Warburg congenital muscular dystrophy [RCV000456138]\|not provided [RCV001093246]\|not specified [RCV00019 ... (more) 2864]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756627	46756627	Human	2	name , alternate_id
151822943	CV1415151	single nucleotide variant	NM_024301.5(FKRP):c.1424C>T (p.Pro475Leu)	Walker-Warburg congenital muscular dystrophy [RCV001954943]\|not provided [RCV003146366]	uncertain significance	19	46756874	46756874	Human	1	name
151807273	CV1417663	microsatellite	NM_024301.5(FKRP):c.30GGC[1] (p.Ala13del)	Walker-Warburg congenital muscular dystrophy [RCV001867668]	uncertain significance	19	46755480	46755482	Human		name
151771878	CV1417810	single nucleotide variant	NM_024301.5(FKRP):c.1082A>C (p.Tyr361Ser)	Walker-Warburg congenital muscular dystrophy [RCV001874531]	uncertain significance	19	46756532	46756532	Human	1	name
151784444	CV1434694	single nucleotide variant	NM_024301.5(FKRP):c.1006G>A (p.Ala336Thr)	Walker-Warburg congenital muscular dystrophy [RCV001897543]	uncertain significance	19	46756456	46756456	Human	1	name
151869720	CV1438975	single nucleotide variant	NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter)	Walker-Warburg congenital muscular dystrophy [RCV002035498]	pathogenic	19	46756703	46756703	Human	1	name
151833081	CV1447959	single nucleotide variant	NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004556091]\|Walker-Warburg congenital muscular dystrophy [RCV001920679]	uncertain significance	19	46756510	46756510	Human	2	name
151779381	CV1469025	single nucleotide variant	NM_024301.5(FKRP):c.1457C>T (p.Pro486Leu)	Walker-Warburg congenital muscular dystrophy [RCV002046012]	uncertain significance	19	46756907	46756907	Human	1	name
151846720	CV1501838	single nucleotide variant	NM_024301.5(FKRP):c.1171G>A (p.Gly391Ser)	Cardiovascular phenotype [RCV005343251]\|Walker-Warburg congenital muscular dystrophy [RCV002016014]\|not provided [RCV003146472]	uncertain significance	19	46756621	46756621	Human	1	name
151888392	CV1512682	single nucleotide variant	NM_024301.5(FKRP):c.1177G>C (p.Val393Leu)	Walker-Warburg congenital muscular dystrophy [RCV001887951]	uncertain significance	19	46756627	46756627	Human	1	name
153303331	CV1686188	single nucleotide variant	NM_024301.5(FKRP):c.1168C>G (p.Arg390Gly)	Walker-Warburg congenital muscular dystrophy [RCV003095882]\|not provided [RCV002261621]	uncertain significance	19	46756618	46756618	Human	1	name
156434174	CV1692966	single nucleotide variant	NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV003107986]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003471303]	likely pathogenic	19	46756777	46756777	Human	2	name
9691343	CV172256	single nucleotide variant	NM_024301.5(FKRP):c.1442C>A (p.Pro481His)	Cardiovascular phenotype [RCV002390319]\|Walker-Warburg congenital muscular dystrophy [RCV000684981]\|not provided [RCV000724960]	uncertain significance	19	46756892	46756892	Human	1	name
9692933	CV177166	single nucleotide variant	NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	Autosomal recessive limb-girdle muscular dystrophy [RCV002298484]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV002288663]\|Cardiovascular phenotype [RCV002415648]\|FKRP-related disorder [RCV004734719]\|Muscular dystrophy-dystroglycanopathy (congen ... (more) ital with brain and eye anomalies), type A1 [RCV005359326]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV001336093]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001838983]\|Walker-Warburg congenital muscular dystrophy [RCV000473789]\|not provided [RCV000657079]	pathogenic\|likely pathogenic\|uncertain significance	19	46756523	46756523	Human	6	name , alternate_id
155706714	CV1772690	single nucleotide variant	NM_024301.5(FKRP):c.1015C>G (p.Arg339Gly)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV005409873]\|Walker-Warburg congenital muscular dystrophy [RCV002300345]	likely pathogenic\|uncertain significance	19	46756465	46756465	Human	2	name
155744391	CV1773118	single nucleotide variant	NM_024301.5(FKRP):c.1328A>G (p.Glu443Gly)	Walker-Warburg congenital muscular dystrophy [RCV002303132]	uncertain significance	19	46756778	46756778	Human	1	name
155695049	CV1792440	single nucleotide variant	NM_024301.5(FKRP):c.1141G>A (p.Ala381Thr)	Cardiovascular phenotype [RCV002460205]	uncertain significance	19	46756591	46756591	Human		name
155730864	CV1808507	single nucleotide variant	NM_024301.5(FKRP):c.1177G>T (p.Val393Leu)	Cardiovascular phenotype [RCV002339922]	uncertain significance	19	46756627	46756627	Human		name
155684871	CV1827140	single nucleotide variant	NM_024301.5(FKRP):c.1040T>A (p.Leu347Gln)	Cardiovascular phenotype [RCV002389951]	uncertain significance	19	46756490	46756490	Human		name
155719237	CV1830542	single nucleotide variant	NM_024301.5(FKRP):c.1045G>T (p.Gly349Trp)	Cardiovascular phenotype [RCV002405498]	uncertain significance	19	46756495	46756495	Human		name
155670095	CV1832272	single nucleotide variant	NM_024301.5(FKRP):c.1315G>A (p.Val439Met)	Cardiovascular phenotype [RCV002385569]	uncertain significance	19	46756765	46756765	Human		name
155722761	CV1836359	single nucleotide variant	NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)	Cardiovascular phenotype [RCV002381099]\|Walker-Warburg congenital muscular dystrophy [RCV003591949]	pathogenic\|likely pathogenic	19	46756828	46756828	Human	1	name
155722814	CV1836366	single nucleotide variant	NM_024301.5(FKRP):c.1379A>G (p.Gln460Arg)	Cardiovascular phenotype [RCV002381106]	uncertain significance	19	46756829	46756829	Human		name
155707023	CV1837299	single nucleotide variant	NM_024301.5(FKRP):c.1043T>A (p.Leu348Gln)	Cardiovascular phenotype [RCV002403087]	uncertain significance	19	46756493	46756493	Human		name
156287086	CV1900701	single nucleotide variant	NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)	Walker-Warburg congenital muscular dystrophy [RCV002598598]	pathogenic	19	46756671	46756671	Human	1	name
156108153	CV1903703	single nucleotide variant	NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)	Cardiovascular phenotype [RCV003161837]\|Walker-Warburg congenital muscular dystrophy [RCV003080861]	uncertain significance	19	46756796	46756796	Human	1	name
8596347	CV19258	single nucleotide variant	NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)	Cardiovascular phenotype [RCV003352746]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003460427]\|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 [RCV002226439]\|Muscular dystrophy-dystroglycanopathy ... (more) type B5 [RCV005025007]\|Walker-Warburg congenital muscular dystrophy [RCV000634067]\|not provided [RCV003137491]	pathogenic\|likely pathogenic	19	46756604	46756604	Human	4	name
8596348	CV19259	single nucleotide variant	NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	Cardiovascular phenotype [RCV002381242]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000763056]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466807]\|Muscular dystrophy-dystroglycanopathy (congenital wi ... (more) thout impaired intellectual development), type B, 5 [RCV002226440]\|Walker-Warburg congenital muscular dystrophy [RCV003591620]\|not provided [RCV000360542]	pathogenic\|likely pathogenic	19	46756793	46756793	Human	5	name
8596350	CV19262	single nucleotide variant	NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)	Autosomal recessive limb-girdle muscular dystrophy [RCV002222339]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000004444]\|Muscular dystrophy-dystroglycanopathy [RCV000501528]\|Walker-Warburg congenital muscular dystrophy [RCV000471321]\|not provided [RCV000725596]	pathogenic\|likely pathogenic	19	46756936	46756936	Human	4	name
8596353	CV19265	single nucleotide variant	NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000201040]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466808]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000004447]\|Walker-Warburg congenital muscular dystrophy [RCV000532707]\|n ... (more) ot provided [RCV000597675]	pathogenic	19	46756814	46756814	Human	4	name
8596354	CV19266	single nucleotide variant	NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003466809]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV000004448]	pathogenic\|likely pathogenic	19	46756663	46756663	Human	2	name
156295274	CV1926732	single nucleotide variant	NM_024301.5(FKRP):c.1444C>T (p.Gln482Ter)	Walker-Warburg congenital muscular dystrophy [RCV002628985]	uncertain significance	19	46756894	46756894	Human	1	name
8596362	CV19274	single nucleotide variant	NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	Autosomal recessive limb-girdle muscular dystrophy [RCV003114175]\|Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273521]\|Cardiovascular phenotype [RCV004018553]\|Muscular dystrophy [RCV000194089]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type ... (more) A1 [RCV002490307]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003460429]\|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 [RCV002226441]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001254718]\|Walker-Warburg congenital muscular dystrophy [RCV000540601]\|not provided [RCV000178346]	pathogenic\|likely pathogenic\|uncertain significance	19	46756837	46756837	Human	8	name
156361948	CV1931744	single nucleotide variant	NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)	Walker-Warburg congenital muscular dystrophy [RCV002632739]	likely pathogenic\|uncertain significance	19	46756505	46756505	Human	1	name
156411900	CV1973817	single nucleotide variant	NM_024301.5(FKRP):c.1468A>G (p.Ser490Gly)	Walker-Warburg congenital muscular dystrophy [RCV002608382]	uncertain significance	19	46756918	46756918	Human	1	name
156009964	CV1989669	single nucleotide variant	NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)	Walker-Warburg congenital muscular dystrophy [RCV002636169]	likely pathogenic	19	46756882	46756882	Human	1	name
156379698	CV1997777	single nucleotide variant	NM_024301.5(FKRP):c.1349T>C (p.Val450Ala)	Walker-Warburg congenital muscular dystrophy [RCV002653573]	uncertain significance	19	46756799	46756799	Human	1	name
156320411	CV2014437	single nucleotide variant	NM_024301.5(FKRP):c.1217A>C (p.Gln406Pro)	Walker-Warburg congenital muscular dystrophy [RCV002672148]	uncertain significance	19	46756667	46756667	Human	1	name
156320650	CV2014459	single nucleotide variant	NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)	Walker-Warburg congenital muscular dystrophy [RCV002672165]	pathogenic	19	46756550	46756550	Human	1	name
156362239	CV2016760	single nucleotide variant	NM_024301.5(FKRP):c.1416G>T (p.Lys472Asn)	Walker-Warburg congenital muscular dystrophy [RCV002720943]	uncertain significance	19	46756866	46756866	Human	1	name
156393792	CV2019326	single nucleotide variant	NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)	Walker-Warburg congenital muscular dystrophy [RCV002725323]	likely pathogenic	19	46756839	46756839	Human	1	name
155915986	CV2033534	single nucleotide variant	NM_024301.5(FKRP):c.1301A>G (p.Asp434Gly)	Walker-Warburg congenital muscular dystrophy [RCV002750469]	uncertain significance	19	46756751	46756751	Human	1	name
156146860	CV2037401	single nucleotide variant	NM_024301.5(FKRP):c.1181G>T (p.Trp394Leu)	Walker-Warburg congenital muscular dystrophy [RCV002786719]	uncertain significance	19	46756631	46756631	Human	1	name
155987073	CV2109061	single nucleotide variant	NM_024301.5(FKRP):c.1440C>G (p.Asn480Lys)	Walker-Warburg congenital muscular dystrophy [RCV002947149]	uncertain significance	19	46756890	46756890	Human	1	name
156282994	CV2186959	single nucleotide variant	NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)	Walker-Warburg congenital muscular dystrophy [RCV003044842]	likely pathogenic	19	46756835	46756835	Human	1	name
243052769	CV2410097	single nucleotide variant	NM_024301.5(FKRP):c.1037C>T (p.Ser346Leu)	not provided [RCV003143983]	uncertain significance	19	46756487	46756487	Human		name
243052781	CV2410099	single nucleotide variant	NM_024301.5(FKRP):c.1142C>T (p.Ala381Val)	not provided [RCV003143985]	uncertain significance	19	46756592	46756592	Human		name
243052788	CV2410100	single nucleotide variant	NM_024301.5(FKRP):c.1435G>A (p.Glu479Lys)	not provided [RCV003143986]	uncertain significance	19	46756885	46756885	Human		name
243052802	CV2410102	single nucleotide variant	NM_024301.5(FKRP):c.1145A>T (p.Glu382Val)	not provided [RCV003143988]	uncertain significance	19	46756595	46756595	Human		name
11642749	CV269557	single nucleotide variant	NM_024301.5(FKRP):c.1087G>T (p.Val363Leu)	not provided [RCV000378451]	uncertain significance	19	46756537	46756537	Human		name
401942633	CV2835816	single nucleotide variant	NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003468197]\|Walker-Warburg congenital muscular dystrophy [RCV005100168]	pathogenic\|likely pathogenic	19	46756450	46756450	Human	2	name
401942640	CV2835820	single nucleotide variant	NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003468199]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005030039]\|not specified [RCV004526987]	pathogenic\|likely pathogenic\|uncertain significance	19	46756660	46756660	Human	2	name
401941262	CV2835822	single nucleotide variant	NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461578]	likely pathogenic	19	46756472	46756472	Human	1	name
401941368	CV2835825	single nucleotide variant	NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461580]	likely pathogenic	19	46756517	46756517	Human	1	name
401942653	CV2835827	single nucleotide variant	NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003468202]	pathogenic	19	46756470	46756470	Human	1	name
401941367	CV2835828	single nucleotide variant	NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461581]	pathogenic	19	46756666	46756666	Human	1	name
401941362	CV2835834	single nucleotide variant	NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003461586]	likely pathogenic	19	46756554	46756554	Human	1	name
405142506	CV2966590	single nucleotide variant	NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)	Walker-Warburg congenital muscular dystrophy [RCV003755467]	pathogenic	19	46756575	46756575	Human	1	name
405141884	CV2971986	single nucleotide variant	NM_024301.5(FKRP):c.1361T>C (p.Phe454Ser)	Walker-Warburg congenital muscular dystrophy [RCV003755393]	uncertain significance	19	46756811	46756811	Human	1	name
405144576	CV2999784	single nucleotide variant	NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)	Walker-Warburg congenital muscular dystrophy [RCV003755680]	likely pathogenic	19	46756466	46756466	Human	1	name
405148003	CV3031658	single nucleotide variant	NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)	Walker-Warburg congenital muscular dystrophy [RCV003756017]	pathogenic	19	46756789	46756789	Human	1	name
405682307	CV3391036	single nucleotide variant	NM_024301.5(FKRP):c.1330C>G (p.His444Asp)	Cardiovascular phenotype [RCV004517574]	uncertain significance	19	46756780	46756780	Human		name
405682310	CV3391037	single nucleotide variant	NM_024301.5(FKRP):c.1351C>T (p.Pro451Ser)	Cardiovascular phenotype [RCV004517575]	uncertain significance	19	46756801	46756801	Human		name
405853399	CV3392730	single nucleotide variant	NM_024301.5(FKRP):c.1274G>A (p.Gly425Asp)	not specified [RCV004526455]	uncertain significance	19	46756724	46756724	Human		name
405868787	CV3400604	single nucleotide variant	NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV004576607]\|Walker-Warburg congenital muscular dystrophy [RCV005101930]	pathogenic\|likely pathogenic	19	46756527	46756527	Human	2	name
407426419	CV3411324	single nucleotide variant	NM_024301.5(FKRP):c.1021T>A (p.Trp341Arg)	not provided [RCV004590501]	uncertain significance	19	46756471	46756471	Human		name
407502896	CV3435975	single nucleotide variant	NM_024301.5(FKRP):c.1169G>A (p.Arg390His)	Cardiovascular phenotype [RCV004623619]	uncertain significance	19	46756619	46756619	Human		name
597732673	CV3666282	single nucleotide variant	NM_024301.5(FKRP):c.1392C>G (p.Asn464Lys)	Cardiovascular phenotype [RCV004996861]	uncertain significance	19	46756842	46756842	Human		name
597751339	CV3705760	single nucleotide variant	NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)	Muscular dystrophy-dystroglycanopathy type B5 [RCV005015853]	likely pathogenic	19	46756579	46756579	Human	1	name
597843150	CV3735853	single nucleotide variant	NM_024301.5(FKRP):c.1470T>A (p.Ser490Arg)	not provided [RCV005065202]	uncertain significance	19	46756920	46756920	Human		name
597836380	CV3766035	single nucleotide variant	NM_024301.5(FKRP):c.1213G>C (p.Val405Leu)	Walker-Warburg congenital muscular dystrophy [RCV005108166]	likely pathogenic	19	46756663	46756663	Human	1	name
597841290	CV3772695	single nucleotide variant	NM_024301.5(FKRP):c.1181G>A (p.Trp394Ter)	Walker-Warburg congenital muscular dystrophy [RCV005115845]	pathogenic	19	46756631	46756631	Human	1	name
12849834	CV377797	single nucleotide variant	NM_024301.5(FKRP):c.1394A>C (p.Tyr465Ser)	not provided [RCV000436944]	pathogenic	19	46756844	46756844	Human		name
597891793	CV3832656	single nucleotide variant	NM_024301.5(FKRP):c.1114G>A (p.Val372Met)	Walker-Warburg congenital muscular dystrophy [RCV005166735]	uncertain significance	19	46756564	46756564	Human	1	name
597920165	CV3853377	single nucleotide variant	NM_024301.5(FKRP):c.1087G>C (p.Val363Leu)	Walker-Warburg congenital muscular dystrophy [RCV005195019]	likely pathogenic	19	46756537	46756537	Human	1	name
597925473	CV3859506	single nucleotide variant	NM_024301.5(FKRP):c.1450C>A (p.Pro484Thr)	Walker-Warburg congenital muscular dystrophy [RCV005200162]	uncertain significance	19	46756900	46756900	Human	1	name
598200975	CV3976810	single nucleotide variant	NM_024301.5(FKRP):c.1348G>A (p.Val450Met)	Cardiovascular phenotype [RCV005336749]	uncertain significance	19	46756798	46756798	Human		name
616934172	CV4012132	single nucleotide variant	NM_024301.5(FKRP):c.1384C>A (p.Pro462Thr)	not specified [RCV005409166]	uncertain significance	19	46756834	46756834	Human		name
13488908	CV446153	single nucleotide variant	NM_024301.5(FKRP):c.1270A>C (p.Asn424His)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001275321]\|Cardiovascular phenotype [RCV002376962]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002490905]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), t ... (more) ype A5 [RCV003225077]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV001197776]\|Walker-Warburg congenital muscular dystrophy [RCV000634052]\|not provided [RCV000726824]	uncertain significance	19	46756720	46756720	Human	5	name
13500873	CV468910	single nucleotide variant	NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001273520]\|Cardiovascular phenotype [RCV003302800]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000765455]\|Walker-Warburg congenital muscular dystrophy [RCV000538732]\|not provided [RCV00500 ... (more) 0142]	uncertain significance	19	46756469	46756469	Human	5	name
13498797	CV468912	single nucleotide variant	NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001834760]\|Walker-Warburg congenital muscular dystrophy [RCV000530214]	uncertain significance	19	46756886	46756886	Human	2	name
13498041	CV469919	single nucleotide variant	NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)	Walker-Warburg congenital muscular dystrophy [RCV000527187]\|not provided [RCV001093245]	pathogenic\|likely pathogenic\|uncertain significance	19	46756550	46756550	Human	1	name
13506599	CV480541	single nucleotide variant	NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000576484]	likely pathogenic	19	46756486	46756486	Human	1	name
13522070	CV493052	single nucleotide variant	NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr)	Walker-Warburg congenital muscular dystrophy [RCV002531091]\|not provided [RCV000591271]	likely pathogenic\|uncertain significance	19	46756813	46756813	Human	1	name
21068950	CV788929	single nucleotide variant	NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV000985158]	likely pathogenic	19	46756814	46756814	Human	1	name
21066735	CV797880	single nucleotide variant	NM_024301.5(FKRP):c.1059C>A (p.His353Gln)	not provided [RCV000996949]	uncertain significance	19	46756509	46756509	Human		name
26889298	CV847776	single nucleotide variant	NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys)	Walker-Warburg congenital muscular dystrophy [RCV001058108]	uncertain significance	19	46756450	46756450	Human	1	name
26918873	CV847777	single nucleotide variant	NM_024301.5(FKRP):c.1057C>T (p.His353Tyr)	Walker-Warburg congenital muscular dystrophy [RCV001044432]	uncertain significance	19	46756507	46756507	Human	1	name
26887593	CV847778	single nucleotide variant	NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001832510]\|Muscular dystrophy-dystroglycanopathy type B5 [RCV005021388]\|Walker-Warburg congenital muscular dystrophy [RCV001056582]	likely pathogenic\|uncertain significance	19	46756586	46756586	Human	3	name
26897701	CV847779	single nucleotide variant	NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser)	Walker-Warburg congenital muscular dystrophy [RCV001066020]	uncertain significance	19	46756591	46756591	Human	1	name
26887596	CV847780	single nucleotide variant	NM_024301.5(FKRP):c.1309C>A (p.Gln437Lys)	Walker-Warburg congenital muscular dystrophy [RCV001056583]	uncertain significance	19	46756759	46756759	Human	1	name
26921499	CV847781	single nucleotide variant	NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu)	Walker-Warburg congenital muscular dystrophy [RCV001050066]	uncertain significance	19	46756808	46756808	Human	1	name
26915278	CV847782	single nucleotide variant	NM_024301.5(FKRP):c.1475C>T (p.Thr492Met)	Walker-Warburg congenital muscular dystrophy [RCV001038737]	uncertain significance	19	46756925	46756925	Human	1	name
38461513	CV919880	single nucleotide variant	NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser)	Muscular dystrophy-dystroglycanopathy type B5 [RCV001197701]	uncertain significance	19	46756816	46756816	Human	1	name
38491156	CV928999	single nucleotide variant	NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 [RCV003469385]\|Walker-Warburg congenital muscular dystrophy [RCV001222642]\|not provided [RCV003145418]	pathogenic\|likely pathogenic	19	46756533	46756533	Human	2	name
38466484	CV938736	single nucleotide variant	NM_024301.5(FKRP):c.1113C>A (p.Asp371Glu)	Walker-Warburg congenital muscular dystrophy [RCV001212787]	uncertain significance	19	46756563	46756563	Human	1	name
38479086	CV938737	single nucleotide variant	NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001833808]\|Cardiovascular phenotype [RCV002393463]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002497700]\|Walker-Warburg congenital muscular dystrophy [RCV001205826]\|not provided [RCV00157 ... (more) 4262]	uncertain significance	19	46756877	46756877	Human	5	name
38495654	CV950826	single nucleotide variant	NM_024301.5(FKRP):c.1075T>C (p.Trp359Arg)	Walker-Warburg congenital muscular dystrophy [RCV001225855]	uncertain significance	19	46756525	46756525	Human	1	name
38461050	CV950827	single nucleotide variant	NM_024301.5(FKRP):c.1211G>A (p.Arg404His)	Walker-Warburg congenital muscular dystrophy [RCV001229464]	uncertain significance	19	46756661	46756661	Human	1	name
38477727	CV950829	single nucleotide variant	NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828860]\|Cardiovascular phenotype [RCV002375244]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002491752]\|Walker-Warburg congenital muscular dystrophy [RCV001233600]	uncertain significance	19	46756721	46756721	Human	5	name
38494998	CV958669	single nucleotide variant	NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001828983]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002480806]\|Walker-Warburg congenital muscular dystrophy [RCV001241623]\|not provided [RCV001288179]\|not specified [RCV005408775]	uncertain significance	19	46756645	46756645	Human	3	name
38469437	CV958670	single nucleotide variant	NM_024301.5(FKRP):c.1429G>A (p.Val477Ile)	Autosomal recessive limb-girdle muscular dystrophy type 2I [RCV001830033]\|Walker-Warburg congenital muscular dystrophy [RCV001248210]	uncertain significance	19	46756879	46756879	Human	2	name
11637413	CV275408	single nucleotide variant	NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)	Cardiovascular phenotype [RCV002348030]\|FKRP-related disorder [RCV004537622]\|Walker-Warburg congenital muscular dystrophy [RCV001079454]\|not provided [RCV000285599]\|not specified [RCV005238861]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	46756604	46756604	Human	1	alternate_id

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