"Ambry Genetics"[submitter] AND "LOC130064247"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539435	NM_014209.4(ETV2):c.274A>G (p.Thr92Ala)	ETV2, LOC130064247 (T92A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2485768	NM_014209.4(ETV2):c.300C>G (p.Asp100Glu)	ETV2, LOC130064247 (D7E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090732	NM_014209.4(ETV2):c.317C>T (p.Ser106Leu)	ETV2, LOC130064247 (S106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401214	NM_014209.4(ETV2):c.334G>A (p.Ala112Thr)	ETV2, LOC130064247 (A19T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320860	NM_014209.4(ETV2):c.359C>T (p.Pro120Leu)	ETV2, LOC130064247 (P120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090733	NM_014209.4(ETV2):c.367G>A (p.Gly123Ser)	ETV2, LOC130064247 (G30S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595773	NM_014209.4(ETV2):c.385G>A (p.Gly129Ser)	ETV2, LOC130064247 (G129S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276617	NM_014209.4(ETV2):c.397G>A (p.Val133Ile)	ETV2, LOC130064247 (V133I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3276615	NM_014209.4(ETV2):c.463G>C (p.Asp155His)	ETV2, LOC130064247 (D62H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090734	NM_014209.4(ETV2):c.472G>A (p.Val158Met)	ETV2, LOC130064247 (V158M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090735	NM_014209.4(ETV2):c.494A>G (p.Tyr165Cys)	ETV2, LOC130064247 (Y165C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance