ClinVar for MedGen (Select 1643078) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068550	NM_144585.4(SLC22A12):c.237G>A (p.Pro79=)	SLC22A12	Single nucleotide variant (synonymous variant +1 more)	Familial renal hypouricemia	GUncertain significance
Select item 305239	NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu)	SLC22A12 (Q382L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3516	NM_144585.4(SLC22A12):c.269G>A (p.Arg90His)	SLC22A12 (R90H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic

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