Related gene-specific medical variations for Gene (Select 55034) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065846	NM_017947.4(MOCOS):c.2271-1G>A	MOCOS	Single nucleotide variant (splice acceptor variant)	Xanthinuria type II	GLikely pathogenic
Select item 2433778	NM_017947.4(MOCOS):c.296A>G (p.Tyr99Cys)	MOCOS (Y99C)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance
Select item 2433777	NM_017947.4(MOCOS):c.929C>T (p.Ser310Leu)	MOCOS (S310L)	Single nucleotide variant (missense variant)	Xanthinuria type II	GUncertain significance

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