"Elsea Laboratory, Baylor College of Medicine"[submitter] AND "HIBCH"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973477	NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)	HIBCH (H264Y)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GUncertain significance
Select item 973483	NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)	HIBCH (R255*)	Single nucleotide variant (nonsense)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GPathogenic
Select item 973485	NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)	HIBCH (G211V)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 973484	NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)	HIBCH (T143K)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GLikely benign
Select item 1145	NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	HIBCH (Y122C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 973469	NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)	HIBCH (F118S)	Single nucleotide variant (missense variant)	Beta-hydroxyisobutyryl-CoA deacylase deficiency	GConflicting classifications of pathogenicity

ClinVar