Related gene-specific medical variations for Gene (Select 3096) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284365	NM_002114.4(HIVEP1):c.7051G>C (p.Val2351Leu)	HIVEP1, LOC129995791 (V2351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656231	NM_002114.4(HIVEP1):c.7113A>G (p.Pro2371=)	HIVEP1, LOC129995792	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621580	NM_002114.4(HIVEP1):c.7022G>A (p.Ser2341Asn)	HIVEP1, LOC129995791 (S2341N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262854	NM_002114.4(HIVEP1):c.7052T>G (p.Val2351Gly)	HIVEP1, LOC129995791 (V2351G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979716	GRCh37/hg19 6p24.1(chr6:12039246-12255731)x3	HIVEP1	Copy number gain	not provided	GUncertain significance
Select item 714293	NM_002114.4(HIVEP1):c.7120C>T (p.Pro2374Ser)	HIVEP1, LOC129995792 (P2374S)	Single nucleotide variant (missense variant)	not provided	GBenign

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