ClinVar for Gene (Select 130064248) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276614	NM_014209.4(ETV2):c.844G>A (p.Gly282Ser)	ETV2, LOC130064248 (G282S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090738	NM_014209.4(ETV2):c.868A>G (p.Met290Val)	ETV2, LOC130064248 (M197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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