C0342870[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301881	NM_000414.4(HSD17B4):c.280+1_280+3del	HSD17B4	Deletion (splice donor variant)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 632857	NM_000414.4(HSD17B4):c.868+1del	HSD17B4	Deletion (splice donor variant)	Perrault syndrome +3 more	GPathogenic/Likely pathogenic
Select item 974782	NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg)	HSD17B4 (H368R +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic

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