ClinVar for MedGen (Select 339580) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3584049	NM_024301.5(FKRP):c.1130_1139del (p.Gln377fs)	FKRP (Q377fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584048	NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)	FKRP (Q377*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584046	NM_024301.5(FKRP):c.984del (p.Arg327_Tyr328insTer)	FKRP	Deletion (nonsense)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584045	NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)	FKRP (Y309*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584044	NM_024301.5(FKRP):c.899T>A (p.Val300Glu)	FKRP (V300E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584043	NM_024301.5(FKRP):c.884_885del (p.Arg295fs)	FKRP (R295fs)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584042	NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)	FKRP (P89S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 3584041	NM_024301.5(FKRP):c.2T>C (p.Met1Thr)	FKRP (M1T)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy type B5 +2 more	GLikely pathogenic
Select item 2913953	NM_024301.5(FKRP):c.1208dup (p.Arg404fs)	FKRP (R404fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GPathogenic/Likely pathogenic
Select item 2808921	NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)	FKRP (P213L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2675700	NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)	FKRP (R404C)	Single nucleotide variant (missense variant)	not specified +3 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 1929555	NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)	FKRP (W231*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic
Select item 1920325	NM_024301.5(FKRP):c.949del (p.Cys317fs)	FKRP (C317fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1910167	NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)	FKRP (R312G)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1806186	NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)	FKRP (R176G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 1802201	NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)	FKRP (G196E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GUncertain significance
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 type B5 +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)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1476315	NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)	FKRP (R216W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1409796	NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg)	FKRP	Indel (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +4 more	GConflicting classifications of pathogenicity
Select item 1403211	NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	FKRP (G354E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 (congenital with brain and eye anomalies), type A1 +4 more	GUncertain significance
Select item 1396847	NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)	FKRP (R181C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
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)	Walker-Warburg congenital muscular dystrophy +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 type B5 +2 more	GLikely pathogenic
Select item 1306894	NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)	FKRP (T294K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1199351	NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	FKRP (E285A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +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)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1173108	NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)	FKRP (Q377R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GUncertain significance
Select item 1071118	NM_024301.5(FKRP):c.540_570dup (p.Cys191fs)	FKRP (C191fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy type B5 +3 more	GPathogenic/Likely pathogenic
Select item 1068020	NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)	FKRP (Q77*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1047789	NM_024301.5(FKRP):c.236TGG[2] (p.Val81del)	FKRP (V81del)	Microsatellite (inframe_deletion)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
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 A5 +5 more	GUncertain significance
Select item 1043670	NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)	FKRP (A102E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1042094	NM_024301.5(FKRP):c.797C>T (p.Ala266Val)	FKRP (A266V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1039237	NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)	FKRP (E324Q)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 1036989	NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)	FKRP (G373S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1036190	NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr)	FKRP (A351T)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1026650	NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)	FKRP (P316A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GLikely pathogenic
Select item 1025316	NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg)	FKRP (G493R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1024939	NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)	FKRP (G298A)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1023839	NM_024301.5(FKRP):c.1407G>A (p.Leu469=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 1021797	NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)	FKRP (D206N)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 1019247	NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln)	FKRP (R436Q)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1014431	NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)	FKRP (S494R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1010588	NM_024301.5(FKRP):c.809G>A (p.Arg270His)	FKRP (R270H)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 1001519	NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)	FKRP (R176Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 991184	NM_024301.5(FKRP):c.849G>A (p.Arg283=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +1 more	GLikely benign
Select item 991183	NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser)	FKRP (Y182S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GUncertain significance
Select item 991182	NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)	FKRP (G132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972230	NM_024301.5(FKRP):c.1429G>A (p.Val477Ile)	FKRP (V477I)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 971263	NM_024301.5(FKRP):c.725C>T (p.Ala242Val)	FKRP (A242V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 968453	NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)	FKRP (G132R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 967165	NM_024301.5(FKRP):c.677C>A (p.Thr226Asn)	FKRP (T226N)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 966847	NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)	FKRP (E399K)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 966674	NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)	FKRP (Q28R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 966605	NM_024301.5(FKRP):c.299G>A (p.Arg100His)	FKRP (R100H)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 966584	NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)	FKRP (A36S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 966244	NM_024301.5(FKRP):c.777C>T (p.Arg259=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 960132	NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)	FKRP (N424S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 958437	NM_024301.5(FKRP):c.315G>T (p.Gln105His)	FKRP (Q105H)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 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 A1 +5 more	GConflicting classifications of pathogenicity
Select item 944173	NM_024301.5(FKRP):c.32C>T (p.Ala11Val)	FKRP (A11V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 939991	NM_024301.5(FKRP):c.206_208del (p.Ser69del)	FKRP (S69del)	Deletion (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +1 more	GLikely pathogenic
Select item 939050	NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)	FKRP (A249T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 936918	NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)	FKRP (G476E)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 934863	NM_024301.5(FKRP):c.780G>C (p.Glu260Asp)	FKRP (E260D)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 933974	NM_024301.5(FKRP):c.569G>A (p.Arg190His)	FKRP (R190H)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 859402	NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)	FKRP (W255R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +5 more	GUncertain significance
Select item 858183	NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)	FKRP (N164S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 857909	NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)	FKRP (L108P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +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 852042	NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)	FKRP (R379P)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 851885	NM_024301.5(FKRP):c.172G>A (p.Ala58Thr)	FKRP (A58T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 849883	NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)	FKRP (R265L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 834380	NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)	FKRP (D60Y)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy	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 800947	NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)	FKRP (A455V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 788194	NM_024301.5(FKRP):c.168C>T (p.Phe56=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GLikely benign
Select item 762475	NM_024301.5(FKRP):c.561C>G (p.Ala187=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 730820	NM_024301.5(FKRP):c.1368C>T (p.Gly456=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +1 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 701098	NM_024301.5(FKRP):c.1167G>A (p.Glu389=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy	GLikely benign
Select item 696918	NM_024301.5(FKRP):c.1119C>A (p.Gly373=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 694028	NM_024301.5(FKRP):c.960_970del (p.Ala321fs)	FKRP (A321fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GPathogenic
Select item 665732	NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)	FKRP (G380E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 665178	NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)	FKRP (E324D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 664545	NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)	FKRP (R2W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 664273	NM_024301.5(FKRP):c.948del (p.Cys317fs)	FKRP (C317fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic
Select item 663660	NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)	FKRP (Y23C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 656651	NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)	FKRP (E311D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 654883	NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	FKRP (W432*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 653261	NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)	FKRP (P106S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance

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