"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AGXT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT (A40fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188738	NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)	AGXT (G161C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 40166	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT (G170R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 188979	NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	AGXT (S218L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 198686	NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)	AGXT (I279T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198982	NM_000030.3(AGXT):c.866G>A (p.Arg289His)	AGXT (R289H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar