C0268647[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56374	NM_003982.4(SLC7A7):c.625+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	SLC7A7-related disorder +2 more	GPathogenic
Select item 56369	NM_003982.4(SLC7A7):c.499+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 2436073	NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)	SLC7A7 (A136T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance

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