Related gene-specific medical variations for Gene (Select 2259) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244215	NC_000013.10:g.(?_102375181)_(102527666_?)dup	FGF14	Duplication	not provided	GUncertain significance
Select item 3238851	NM_004115.4(FGF14):c.20G>T (p.Ser7Ile)	FGF14 (S7I)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 27A	GUncertain significance
Select item 3111539	NM_004791.3(ITGBL1):c.1456G>C (p.Glu486Gln)	FGF14, ITGBL1 (E345Q +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3064124	NM_004115.4(FGF14):c.194-1G>C	FGF14	Single nucleotide variant (splice acceptor variant +1 more)	Spinocerebellar ataxia 27A	GLikely pathogenic
Select item 3040691	NM_001321941.2(FGF14):c.1A>G (p.Met1Val)	FGF14, FGF14-IT1 (M1V)	Single nucleotide variant (missense variant +3 more)	FGF14-related disorder	GLikely benign
Select item 2684190	NM_004115.4(FGF14):c.126C>T (p.Gly42=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2607298	NM_004791.3(ITGBL1):c.1366G>A (p.Asp456Asn)	FGF14, ITGBL1 (D407N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2441420	NM_004115.4(FGF14):c.68G>C (p.Arg23Pro)	FGF14 (R23P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2340992	NM_004791.3(ITGBL1):c.1301G>A (p.Cys434Tyr)	FGF14, ITGBL1 (C293Y +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1807154	NM_004115.4(FGF14):c.304+5G>A	FGF14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807153	NM_175929.3(FGF14):c.177C>T (p.Gly59=)	FGF14	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1806864	NM_004115.4(FGF14):c.154C>T (p.Arg52Cys)	FGF14 (R52C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806479	NG_008317.3:g.245717TTC[250_?]	FGF14	Microsatellite	Spinocerebellar ataxia 27B, late-onset	GPathogenic
Select item 995363	NM_004115.4(FGF14):c.369G>C (p.Leu123Phe)	FGF14 (L123F +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979991	GRCh37/hg19 13q33.1(chr13:102858553-103025655)x1	FGF14	Copy number loss	not provided	GUncertain significance
Select item 930645	NM_004115.4(FGF14):c.429C>A (p.Cys143Ter)	FGF14 (C81* +8 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 873432	NM_004115.4(FGF14):c.652G>T (p.Val218Phe)	ITGBL1, FGF14 (V223F +8 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 27	GUncertain significance
Select item 807035	NM_004115.4(FGF14):c.520G>A (p.Gly174Arg)	FGF14 (G111R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585854	NM_175929.3(FGF14):c.142A>T (p.Ser48Cys)	FGF14 (S48C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance