C0268579[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1456785	NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)	PCCA (E73* +1 more)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GPathogenic
Select item 870415	NM_000282.4(PCCA):c.805C>T (p.His269Tyr)	PCCA (H243Y +1 more)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 38870	NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)	PCCA (R313* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic

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