"Ambry Genetics"[submitter] AND "VOPP1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2314696	NM_030796.5(VOPP1):c.496G>A (p.Glu166Lys)	VOPP1 (E157K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246192	NM_030796.5(VOPP1):c.455C>T (p.Pro152Leu)	VOPP1 (P135L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281731	NM_030796.5(VOPP1):c.407T>C (p.Met136Thr)	VOPP1 (M133T +6 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2296778	NM_030796.5(VOPP1):c.406A>G (p.Met136Val)	VOPP1 (M136V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602000	NM_030796.5(VOPP1):c.400A>G (p.Met134Val)	VOPP1 (H96R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520415	NM_030796.5(VOPP1):c.391G>A (p.Gly131Arg)	VOPP1 (G105R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315802	NM_030796.5(VOPP1):c.389T>C (p.Val130Ala)	VOPP1 (V121A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2478711	NM_030796.5(VOPP1):c.385C>A (p.Pro129Thr)	VOPP1 (P127T +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307668	NM_030796.5(VOPP1):c.374C>T (p.Pro125Leu)	VOPP1 (P108L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253196	NM_030796.5(VOPP1):c.361G>C (p.Asp121His)	VOPP1 (D112H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311635	NM_030796.5(VOPP1):c.255G>A (p.Met85Ile)	VOPP1 (M59I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594754	NM_030796.5(VOPP1):c.232G>A (p.Gly78Ser)	VOPP1 (G52S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188729	NM_030796.5(VOPP1):c.211G>A (p.Val71Met)	VOPP1 (V62M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551021	NM_030796.5(VOPP1):c.208G>T (p.Gly70Cys)	VOPP1 (G32V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529848	NM_030796.5(VOPP1):c.171A>G (p.Ile57Met)	VOPP1 (I40M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188728	NM_030796.5(VOPP1):c.157C>T (p.Arg53Trp)	VOPP1 (A59V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552400	NM_030796.5(VOPP1):c.119G>T (p.Arg40Leu)	VOPP1 (R23L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188730	NM_030796.5(VOPP1):c.70A>G (p.Lys24Glu)	VOPP1 (K21E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324337	NM_030796.5(VOPP1):c.40G>C (p.Gly14Arg)	LOC129998485, VOPP1 (G14R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2533246	NM_030796.5(VOPP1):c.22G>A (p.Val8Met)	LOC129998485, VOPP1 (V8M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 20