"Revvity Omics, Revvity"[submitter] AND "PEX12"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92776	NM_000286.3(PEX12):c.888_889del (p.Leu297fs)	PEX12 (L297fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic
Select item 502684	NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)	PEX12 (S246Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 497605	NM_000286.3(PEX12):c.681-2A>C	PEX12	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity

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