ClinVar for MedGen (Select 461763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241631	NM_024301.5(FKRP):c.668_669del (p.Phe223fs)	FKRP (F223fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241630	NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)	FKRP (C317*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241629	NM_024301.5(FKRP):c.74_80del (p.Ser25fs)	FKRP (S25fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241627	NM_024301.5(FKRP):c.261_271del (p.Tyr88fs)	FKRP (Y88fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241626	NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)	FKRP (W359*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241625	NM_024301.5(FKRP):c.761_788dup (p.Ala263_Arg264insLeuGluGlyTer)	FKRP	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241624	NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)	FKRP (W26*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241623	NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)	FKRP (W286*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 3241622	NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)	FKRP (E55*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2913953	NM_024301.5(FKRP):c.1208dup (p.Arg404fs)	FKRP (R404fs)	Duplication (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2732525	NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)	FKRP (P89A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2675714	NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)	FKRP (Y368*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675713	NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)	FKRP (E118*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675712	NM_024301.5(FKRP):c.433_455del (p.Val145fs)	FKRP (V145fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675711	NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)	FKRP (V393fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675710	NM_024301.5(FKRP):c.544del (p.Tyr182fs)	FKRP (Y182fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675709	NM_024301.5(FKRP):c.795_811del (p.Ala267fs)	FKRP (A267fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675708	NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)	FKRP (Q406*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GPathogenic
Select item 2675707	NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)	FKRP (Y340*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GPathogenic
Select item 2675706	NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)	FKRP (Q73*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic
Select item 2675705	NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)	FKRP (I356T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675704	NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)	FKRP (G373fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675703	NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)	FKRP (Y328*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675702	NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)	FKRP (W341*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675701	NM_024301.5(FKRP):c.632del (p.Ser211fs)	FKRP (S211fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675700	NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)	FKRP (R404C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GConflicting classifications of pathogenicity
Select item 2675699	NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)	FKRP (W313*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GPathogenic
Select item 2675696	NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)	FKRP (E334*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2675695	NM_024301.5(FKRP):c.1336del (p.Leu446fs)	FKRP (L446fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 2675694	NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)	FKRP (Q30*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 2577157	NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)	FKRP (A157P)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2500032	NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)	FKRP (T4A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more	GUncertain significance
Select item 2138310	NM_024301.5(FKRP):c.447_451del (p.Ala150fs)	FKRP (A150fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 1934796	NM_024301.5(FKRP):c.712_713del (p.Leu238fs)	FKRP (L238fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 1910167	NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)	FKRP (R312G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GConflicting classifications of pathogenicity
Select item 1700573	NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)	FKRP (E443K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 1579409	NM_024301.5(FKRP):c.558C>A (p.Pro186=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GLikely benign
Select item 1519039	NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser)	FKRP (C375S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 1510930	NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)	FKRP (W231C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1484362	NM_024301.5(FKRP):c.959G>A (p.Arg320His)	FKRP (R320H)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 1411510	NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg)	FKRP (G354R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1403211	NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	FKRP (G354E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GUncertain significance
Select item 1401035	NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)	FKRP (E310Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +4 more	GUncertain significance
Select item 1396847	NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)	FKRP (R181C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GUncertain significance
Select item 1365203	NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)	FKRP (G298*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1363110	NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs)	FKRP (L446fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1356546	NM_024301.5(FKRP):c.434T>G (p.Val145Gly)	FKRP (V145G)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1346345	NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)	FKRP (W279R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GUncertain significance
Select item 1334893	NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)	FKRP (C168Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +2 more	GLikely pathogenic
Select item 1306894	NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)	FKRP (T294K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GUncertain significance
Select item 1199351	NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	FKRP (E285A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more	GConflicting classifications of pathogenicity
Select item 1199350	NM_024301.5(FKRP):c.119G>A (p.Arg40His)	FKRP (R40H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +2 more	GUncertain significance
Select item 1199308	NM_024301.5(FKRP):c.282C>T (p.Pro94=)	FKRP	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more	GConflicting classifications of pathogenicity
Select item 1073047	NM_024301.5(FKRP):c.511_523del (p.Leu171fs)	FKRP (L171fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 1043904	NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)	FKRP (V398I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GUncertain significance
Select item 1036989	NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)	FKRP (G373S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1028981	NM_013403.3(STRN4):c.282+55T>C	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GUncertain significance
Select item 1028300	NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys)	FKRP (Y307C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GUncertain significance
Select item 1024939	NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)	FKRP (G298A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GUncertain significance
Select item 1021797	NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)	FKRP (D206N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +4 more	GUncertain significance
Select item 1014431	NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)	FKRP (S494R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 999725	NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)	FKRP (S69P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GConflicting classifications of pathogenicity
Select item 966847	NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)	FKRP (E399K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GUncertain significance
Select item 960132	NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)	FKRP (N424S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GUncertain significance
Select item 953876	NM_024301.5(FKRP):c.633G>A (p.Ser211=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GConflicting classifications of pathogenicity
Select item 950839	NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)	FKRP (Y361*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 939991	NM_024301.5(FKRP):c.206_208del (p.Ser69del)	FKRP (S69del)	Deletion (inframe_deletion)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely pathogenic
Select item 936918	NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)	FKRP (G476E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +6 more	GUncertain significance
Select item 930906	NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)	FKRP (A321E)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 917941	NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)	FKRP (R295G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	GLikely pathogenic
Select item 859402	NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)	FKRP (W255R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 857909	NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)	FKRP (L108P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 854085	NM_024301.5(FKRP):c.838G>A (p.Glu280Lys)	FKRP (E280K)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 804807	NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)	FKRP	Duplication (inframe_insertion)	not provided +5 more	GUncertain significance
Select item 788194	NM_024301.5(FKRP):c.168C>T (p.Phe56=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 714440	NM_024301.5(FKRP):c.9C>T (p.Leu3=)	FKRP	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GLikely benign
Select item 664273	NM_024301.5(FKRP):c.948del (p.Cys317fs)	FKRP (C317fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy type B5 +5 more	GPathogenic
Select item 663660	NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)	FKRP (Y23C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +5 more	GUncertain significance
Select item 656651	NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)	FKRP (E311D)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 654883	NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	FKRP (W432*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy type B5 +4 more	GPathogenic/Likely pathogenic
Select item 653261	NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)	FKRP (P106S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 644998	NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)	FKRP (A326T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 642538	NM_024301.5(FKRP):c.551C>T (p.Ala184Val)	FKRP (A184V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 598298	NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)	FKRP (R379Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GUncertain significance
Select item 597390	NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)	FKRP (Y88*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GPathogenic/Likely pathogenic
Select item 579301	NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)	FKRP (L284P)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 577969	NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)	FKRP (A455S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 571235	NM_024301.5(FKRP):c.706C>G (p.Leu236Val)	FKRP (L236V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 558649	NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)	FKRP (G391fs)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +2 more	GPathogenic
Select item 557519	NM_024301.5(FKRP):c.502T>C (p.Cys168Arg)	FKRP (C168R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +1 more	GConflicting classifications of pathogenicity
Select item 556419	NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	FKRP (A381fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 556102	NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)	FKRP (R176*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 556028	NM_024301.5(FKRP):c.1415del (p.Lys472fs)	FKRP (K472fs)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 554104	NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	FKRP (E260*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 554061	NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)	FKRP	Duplication (inframe_insertion)	Muscular dystrophy-dystroglycanopathy type B5 +3 more	GUncertain significance
Select item 551029	NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn)	FKRP (D401N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 551007	NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	FKRP (P89L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 550361	NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	FKRP (E310*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 528825	NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)	FKRP (I478T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 528824	NM_024301.5(FKRP):c.968G>A (p.Arg323His)	FKRP (R323H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GConflicting classifications of pathogenicity

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