Related gene-specific medical variations for Gene (Select 2247) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202823	NM_007083.5(NUDT6):c.702C>A (p.Phe234Leu)	FGF2, NUDT6 (F65L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094710	NM_001361665.2(FGF2):c.-311A>G	FGF2, LOC109113863 (N30S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3094706	NM_001361665.2(FGF2):c.-198C>G	FGF2, LOC109113863 (R68G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3094705	NM_001361665.2(FGF2):c.-219G>A	FGF2, LOC109113863 (G61S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3056995	NM_007083.5(NUDT6):c.554-5C>A	FGF2, NUDT6	Single nucleotide variant (3 prime UTR variant +1 more)	NUDT6-related disorder	GBenign
Select item 3050768	NM_007083.5(NUDT6):c.764C>T (p.Ala255Val)	FGF2, NUDT6 (A255V +1 more)	Single nucleotide variant (missense variant +1 more)	NUDT6-related disorder	GLikely benign
Select item 3039263	NM_007083.5(NUDT6):c.770C>T (p.Thr257Ile)	FGF2, NUDT6 (T257I +1 more)	Single nucleotide variant (missense variant +1 more)	NUDT6-related disorder	GBenign
Select item 3035036	NM_007083.5(NUDT6):c.612C>T (p.Ser204=)	FGF2, NUDT6	Single nucleotide variant (synonymous variant +1 more)	NUDT6-related disorder	GLikely benign
Select item 2672998	NM_001361665.2(FGF2):c.-109C>G	FGF2, LOC109113863	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2477534	NM_007083.5(NUDT6):c.613G>T (p.Val205Phe)	FGF2, NUDT6 (V36F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470220	NM_001361665.2(FGF2):c.-66C>T	FGF2, LOC109113863 (R112W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2386847	NM_001361665.2(FGF2):c.-26G>A	FGF2, LOC109113863 (G125E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2337085	NM_001361665.2(FGF2):c.-162G>A	FGF2, LOC109113863 (G80R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2328888	NM_001361665.2(FGF2):c.-129G>A	FGF2, LOC109113863 (G91R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2319473	NM_007083.5(NUDT6):c.569G>A (p.Arg190Gln)	FGF2, NUDT6 (R190Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 207863	NM_001361665.2(FGF2):c.-74G>A	FGF2, LOC109113863 (G109D)	Single nucleotide variant (5 prime UTR variant +1 more)	Long QT syndrome	GLikely benign