"Baylor Genetics"[submitter] AND "PSAT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976999	NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu)	PSAT1 (S226L)	Single nucleotide variant (missense variant)	PSAT deficiency +1 more	GUncertain significance
Select item 976898	NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr)	PSAT1 (A265T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic

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