"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar - NCBI

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Items: 9

	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)	Alanine glyoxylate aminotransferase deficiency +4 more	GPathogenic
Select item 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
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 204103	NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	AGXT (S158L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204105	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT (G161S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 40166	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT (G170R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5646	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT (I244T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +3 more	GPathogenic
Select item 1344881	NM_000030.3(AGXT):c.863G>A (p.Trp288Ter)	AGXT (W288*)	Single nucleotide variant (nonsense)	Nephrotic syndrome	GLikely pathogenic
Select item 548671	NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)	AGXT (R360P)	Single nucleotide variant (missense variant)	Nephrocalcinosis +1 more	GLikely pathogenic