"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	CYP4V2, F11 +26 more	Deletion	not provided	GPathogenic
Select item 2007926	NM_207352.4(CYP4V2):c.13_24dup (p.Leu8_Val9insTrpLeuGlyLeu)	CYP4V2, LOC129993526	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2127721	NM_207352.4(CYP4V2):c.9G>T (p.Gly3=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137155	NM_207352.4(CYP4V2):c.12C>G (p.Leu4=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005466	NM_207352.4(CYP4V2):c.14G>C (p.Trp5Ser)	CYP4V2, LOC129993526 (W5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661224	NM_207352.4(CYP4V2):c.24C>G (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348296	NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	Bietti crystalline corneoretinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2122888	NM_207352.4(CYP4V2):c.25G>C (p.Val9Leu)	CYP4V2, LOC129993526 (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794058	NM_207352.4(CYP4V2):c.37C>T (p.Leu13=)	CYP4V2, LOC129993526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026579	NM_207352.4(CYP4V2):c.40C>G (p.Leu14Val)	CYP4V2, LOC129993526 (L14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 840464	NM_207352.4(CYP4V2):c.44T>C (p.Leu15Pro)	CYP4V2, LOC129993526 (L15P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2753312	NM_207352.4(CYP4V2):c.46del (p.Trp16fs)	CYP4V2, LOC129993526 (W16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1933599	NM_207352.4(CYP4V2):c.61G>A (p.Ala21Thr)	CYP4V2, LOC129993526 (A21T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 39267	NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)	CYP4V2, LOC129993526 (L22V)	Single nucleotide variant (missense variant)	Bietti crystalline corneoretinal dystrophy +4 more	GBenign
Select item 953153	NM_207352.4(CYP4V2):c.68C>A (p.Ser23Tyr)	CYP4V2, LOC129993526 (S23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance