C1970253[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367451	NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)	PSAT1 (A15P)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2 +1 more	GUncertain significance
Select item 450380	NM_058179.4(PSAT1):c.44C>T (p.Ala15Val)	PSAT1 (A15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081	NM_058179.4(PSAT1):c.107del (p.Gly36fs)	PSAT1 (G36fs)	Deletion (frameshift variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 977022	NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg)	PSAT1 (S43R)	Single nucleotide variant (missense variant)	PSAT deficiency	GPathogenic
Select item 1082	NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)	PSAT1 (D100A)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GPathogenic
Select item 450376	NM_058179.4(PSAT1):c.432del (p.Asp145fs)	PSAT1 (D145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 976941	NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)	PSAT1 (T156M)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 2	GUncertain significance

ClinVar