Related gene-specific medical variations for Gene (Select 79147) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3571670	NM_024301.5(FKRP):c.534G>T (p.Trp178Cys)	FKRP (W178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3450908	NM_013403.3(STRN4):c.161C>T (p.Pro54Leu)	FKRP, STRN4 (P54L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450906	NM_013403.3(STRN4):c.158G>T (p.Ser53Ile)	FKRP, STRN4 (S53I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3450904	NM_013403.3(STRN4):c.41C>G (p.Ala14Gly)	FKRP, STRN4 (A14G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3363381	NM_024301.5(FKRP):c.-253+5G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3323434	NM_013403.3(STRN4):c.250G>A (p.Ala84Thr)	FKRP, LOC130064775 +1 more (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248428	NC_000019.9:g.(?_47257002)_(47259076_?)del	FKRP	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
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 3171664	NM_013403.3(STRN4):c.113C>A (p.Ala38Asp)	FKRP, STRN4 (A38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171662	NM_013403.3(STRN4):c.103T>C (p.Ser35Pro)	FKRP, STRN4 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3029813	NM_024301.5(FKRP):c.-270C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	FKRP-related disorder	GLikely benign
Select item 2689067	NM_024301.5(FKRP):c.821T>C (p.Ile274Thr)	FKRP (I274T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 2504355	NM_024301.5(FKRP):c.-253+331C>A	FKRP, STRN4 (E4*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2441452	NM_024301.5(FKRP):c.931G>A (p.Glu311Lys)	FKRP (E311K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441450	NM_024301.5(FKRP):c.958C>T (p.Arg320Cys)	FKRP (R320C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441449	NM_024301.5(FKRP):c.650C>A (p.Pro217Gln)	FKRP (P217Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441447	NM_024301.5(FKRP):c.1145A>T (p.Glu382Val)	FKRP (E382V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441446	NM_024301.5(FKRP):c.739C>T (p.Pro247Ser)	FKRP (P247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441445	NM_024301.5(FKRP):c.1435G>A (p.Glu479Lys)	FKRP (E479K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441444	NM_024301.5(FKRP):c.1142C>T (p.Ala381Val)	FKRP (A381V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441442	NM_024301.5(FKRP):c.1037C>T (p.Ser346Leu)	FKRP (S346L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291138	NM_013403.3(STRN4):c.251C>T (p.Ala84Val)	FKRP, LOC130064775 +1 more (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288846	NM_013403.3(STRN4):c.272C>T (p.Ala91Val)	FKRP, LOC130064775 +1 more (A91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256842	NM_013403.3(STRN4):c.157A>C (p.Ser53Arg)	FKRP, STRN4 (S53R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255832	NM_013403.3(STRN4):c.182A>C (p.Glu61Ala)	FKRP, STRN4 (E61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238402	NM_013403.3(STRN4):c.52C>T (p.Arg18Cys)	FKRP, STRN4 (R18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205400	NM_013403.3(STRN4):c.56C>A (p.Pro19Gln)	FKRP, STRN4 (P19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1327792	NC_000019.10:g.46746008C>G	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1322919	NM_024301.5(FKRP):c.939G>A (p.Trp313Ter)	FKRP (W313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1319352	NM_024301.5(FKRP):c.1051G>C (p.Ala351Pro)	FKRP (A351P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270326	NC_000019.10:g.46746039G>C	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190029	NC_000019.10:g.46746040C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181076	NC_000019.10:g.46746021G>A	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1071722	NC_000019.9:g.(?_47255735)_47259271del	FKRP	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 1028981	NM_024301.5(FKRP):c.-253+4A>G	STRN4, FKRP +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 931281	NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser)	FKRP (G456S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5	GUncertain significance
Select item 781468	NM_013403.3(STRN4):c.30C>A (p.Val10=)	FKRP, STRN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522865	NM_024301.5(FKRP):c.-272G>A	STRN4, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I +1 more	GConflicting classifications of pathogenicity
Select item 518044	NM_024301.5(FKRP):c.-272GGC[3]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 516899	NM_024301.5(FKRP):c.-253+5GGCCG[5]	FKRP, LOC130064775 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 509026	NM_024301.5(FKRP):c.-253+9G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 488159	NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)	FKRP (S43C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 487485	NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)	FKRP (S346P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 420683	NM_024301.5(FKRP):c.-272GGC[8]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 390494	NM_024301.5(FKRP):c.-253+14G>A	LOC130064775, STRN4 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 242413	NM_024301.5(FKRP):c.74C>A (p.Ser25Ter)	FKRP (S25*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242412	NM_024301.5(FKRP):c.76_77del (p.Trp26fs)	FKRP (W26fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 72