"PSAT1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 913715	NM_058179.4(PSAT1):c.231A>T (p.Gly77=)	PSAT1	Single nucleotide variant (synonymous variant)	Neu-Laxova syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 367455	NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)	PSAT1 (I123V)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +2 more	GLikely benign
Select item 914106	NM_058179.4(PSAT1):c.445G>A (p.Val149Met)	PSAT1 (V149M)	Single nucleotide variant (missense variant)	PSAT deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1092398	NM_058179.4(PSAT1):c.456C>T (p.Cys152=)	PSAT1	Single nucleotide variant (synonymous variant)	PSAT1-related disorder +1 more	GLikely benign
Select item 367457	NM_058179.4(PSAT1):c.571-4dup	PSAT1	Duplication (intron variant)	Neu-Laxova syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 712336	NM_058179.4(PSAT1):c.696G>A (p.Val232=)	PSAT1	Single nucleotide variant (synonymous variant)	PSAT1-related disorder +1 more	GBenign/Likely benign
Select item 914109	NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)	PSAT1 (A234S)	Single nucleotide variant (missense variant)	PSAT deficiency +2 more	GConflicting classifications of pathogenicity

ClinVar