C0268164[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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	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)	AGXT-related condition +4 more	GPathogenic
Select item 204092	NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	AGXT (R111Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 204097	NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)	AGXT (R122*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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