C0342788[trait identifier] AND "HudsonAlpha Institute for Biotechnolog - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25372	NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	SLC22A5 (A166S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25416	NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	SLC22A5 (T464M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 38794	NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	SLC22A5 (R488H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

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ClinVar