C0268164[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	Primary hyperoxaluria +4 more	GPathogenic
Select item 188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT (K12fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5643	NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	AGXT (G82E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 188866	NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	AGXT (L101P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 2584994	NM_000030.3(AGXT):c.386_395del (p.Asp129fs)	AGXT (D129fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 188979	NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	AGXT (S218L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188986	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT (G350D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic

ClinVar