"Baylor Genetics"[submitter] AND "LOC112272621"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554167	NM_000137.4(FAH):c.315-2A>G	FAH, LOC112272621	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 2675356	NM_000137.4(FAH):c.315-1G>A	FAH, LOC112272621	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic