"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "ABCG8 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698806	NM_022437.3(ABCG8):c.562-1G>A	ABCG8	Single nucleotide variant (splice acceptor variant)	Sitosterolemia 1	GLikely pathogenic
Select item 4967	NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	ABCG8 (W361*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic