"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC38A8"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125447	NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)	SLC38A8 (Q200*)	Single nucleotide variant (nonsense)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 777022	NM_001080442.3(SLC38A8):c.190-8C>T	SLC38A8	Single nucleotide variant (intron variant)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome +1 more	GBenign/Likely benign