C0268126[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029580	NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	ADSL (V104I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204814	NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)	ADSL (R190* +1 more)	Single nucleotide variant (nonsense +1 more)	ADSL-related disorder +2 more	GPathogenic
Select item 387486	NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)	ADSL (R196Q +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency +2 more	GUncertain significance
Select item 341656	NM_000026.4(ADSL):c.763C>T (p.Leu255=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 459620	NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)	ADSL (R296Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 204791	NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)	ADSL (R309C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 193966	NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)	ADSL (I403L +1 more)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency +1 more	GUncertain significance

ClinVar