Related gene-specific medical variations for Gene (Select 8564) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302342	NM_014322.3(OPN3):c.1051G>C (p.Val351Leu)	KMO, OPN3 (V351L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640207	NM_014322.3(OPN3):c.950G>A (p.Arg317Gln)	KMO, OPN3 (R317Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2497696	NM_003679.5(KMO):c.583_601del (p.Met195fs)	KMO (M195fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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