"Ambry Genetics"[submitter] AND "APPBP2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3128070	NM_006380.5(APPBP2):c.1739T>C (p.Val580Ala)	APPBP2 (V509A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623019	NM_006380.5(APPBP2):c.1711G>C (p.Val571Leu)	APPBP2 (V571L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128069	NM_006380.5(APPBP2):c.1678G>A (p.Val560Ile)	APPBP2 (V489I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204909	NM_006380.5(APPBP2):c.1634G>A (p.Arg545Gln)	APPBP2 (R545Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128073	NM_006380.5(APPBP2):c.815C>G (p.Ala272Gly)	APPBP2 (A201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307661	NM_006380.5(APPBP2):c.722C>G (p.Pro241Arg)	APPBP2 (P241R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466011	NM_006380.5(APPBP2):c.469C>T (p.Leu157Phe)	APPBP2 (L86F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128071	NM_006380.5(APPBP2):c.460G>A (p.Asp154Asn)	APPBP2 (D83N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346935	NM_006380.5(APPBP2):c.230A>G (p.His77Arg)	APPBP2 (H77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128072	NM_006380.5(APPBP2):c.80G>A (p.Arg27His)	APPBP2 (R27H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance