"GeneDx"[submitter] AND "FGF9"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 2506665	NM_002010.3(FGF9):c.190A>G (p.Arg64Gly)	FGF9 (R64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282675	NM_002010.3(FGF9):c.278-276A>G	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290272	NM_002010.3(FGF9):c.278-28T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311421	NM_002010.3(FGF9):c.278-14C>T	FGF9	Single nucleotide variant (intron variant)	Multiple synostoses syndrome 3 +1 more	GBenign
Select item 1174880	NM_002010.3(FGF9):c.381+17C>T	FGF9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268572	NM_002010.3(FGF9):c.381+116T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228229	NM_002010.3(FGF9):c.382-202A>T	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287372	NM_002010.3(FGF9):c.382-136T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225273	NM_002010.3(FGF9):c.382-119T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678668	NM_002010.3(FGF9):c.566C>G (p.Pro189Arg)	FGF9 (P189R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1295064	NM_002010.3(FGF9):c.*276GT[18]	FGF9	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 881305	NM_002010.3(FGF9):c.*274A>G	FGF9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic