"GeneDx"[submitter] AND "FGF14"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 310889	NM_004115.4(FGF14):c.*176dup	FGF14	Duplication (3 prime UTR variant)	Autosomal dominant cerebellar ataxia +1 more	GBenign/Likely benign
Select item 310892	NM_004115.4(FGF14):c.*31G>A	FGF14	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 310893	NM_004115.4(FGF14):c.693G>A (p.Ala231=)	FGF14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3373142	NM_004115.4(FGF14):c.665G>C (p.Gly222Ala)	FGF14 (G138A +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248934	NM_004115.4(FGF14):c.608-321GT[12]	FGF14	Microsatellite (intron variant)	not provided	GBenign
Select item 1238896	NM_004115.4(FGF14):c.608-321GT[11]	FGF14	Microsatellite (intron variant)	not provided	GBenign
Select item 502389	NM_004115.4(FGF14):c.556A>T (p.Arg186Ter)	FGF14 (R186* +8 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 310899	NM_004115.4(FGF14):c.481T>C (p.Leu161=)	FGF14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 1704904	NM_004115.4(FGF14):c.408+141dup	FGF14	Duplication (intron variant)	not provided	GLikely benign
Select item 1806675	NM_004115.4(FGF14):c.305-2A>G	FGF14	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1302763	NM_004115.4(FGF14):c.193+243T>C	FGF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326158	NM_004115.4(FGF14):c.193+193C>T	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344937	NM_004115.4(FGF14):c.193+146G>C	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293254	NM_004115.4(FGF14):c.193+118C>T	FGF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262793	NM_004115.4(FGF14):c.193+102C>T	FGF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691145	NM_004115.4(FGF14):c.193+46C>T	FGF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 310902	NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)	FGF14 (G42C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1263923	NM_004115.4(FGF14):c.-112C>T	FGF14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220720	NM_004115.4(FGF14):c.-137C>A	FGF14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1293250	NM_004115.4(FGF14):c.-147C>G	FGF14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1293251	NM_004115.4(FGF14):c.-246G>C	FGF14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 1267951	NM_175929.3(FGF14):c.208+260dup	FGF14	Duplication (intron variant)	not provided	GBenign
Select item 1275677	NM_175929.3(FGF14):c.208+260del	FGF14	Deletion (intron variant)	not provided	GBenign
Select item 3368383	NM_001321938.2(FGF14):c.-248_-247del	FGF14 (L10fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1230446	NM_175929.3(FGF14):c.-252T>G	FGF14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1260330	NM_001321938.2(FGF14):c.-449_-448dup	FGF14	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1247471	NM_001321938.2(FGF14):c.-448dup	FGF14	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3360972	NM_004115.4(FGF14):c.350A>G (p.Gln117Arg)	FGF14 (Q117R +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359664	NM_004115.4(FGF14):c.64G>C (p.Asp22His)	FGF14 (D22H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 34