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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440685	NM_000182.5(HADHA):c.2018del (p.Ile673fs)	GAREM2, HADHA (I673fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 558276	NM_000182.5(HADHA):c.1620+2_1620+6del	GAREM2, HADHA	Microsatellite (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 100085	NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	GAREM2, HADHA (E510Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 2432360	NM_000182.5(HADHA):c.985G>C (p.Glu329Gln)	HADHA (E329Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 570809	NM_000182.5(HADHA):c.652G>C (p.Val218Leu)	HADHA (V218L)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2432358	NM_000182.5(HADHA):c.580G>A (p.Val194Met)	HADHA (V194M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178770	NM_000182.5(HADHA):c.314+2T>G	HADHA	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 8731	NM_000182.5(HADHA):c.180+3A>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic

ClinVar