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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_013403.3(STRN4):c.282+76G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	FKRP-related condition	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 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	GPathogenic
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_013403.3(STRN4):c.10G>T (p.Glu4Ter)	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	NM_013403.3(STRN4):c.282+141G>C	FKRP, LOC130064775 +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	NM_013403.3(STRN4):c.282+110C>G	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190029	NM_013403.3(STRN4):c.282+109G>A	FKRP, LOC130064775 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181076	NM_013403.3(STRN4):c.282+128C>T	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_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 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_013403.3(STRN4):c.282+78C>T	FKRP, LOC130064775 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GPathogenic
Select item 518044	NM_013403.3(STRN4):c.282+64GCC[3]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 516899	NM_013403.3(STRN4):c.282+35CGGCC[5]	FKRP, LOC130064775 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 509026	NM_013403.3(STRN4):c.282+50C>T	STRN4, FKRP +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_013403.3(STRN4):c.282+64GCC[8]	FKRP, LOC130064775 +1 more	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 390494	NM_013403.3(STRN4):c.282+45C>T	STRN4, LOC130064775 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 57