"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "EHHADH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501143	NM_001966.4(EHHADH):c.1864C>T (p.Arg622Cys)	EHHADH (R622C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2682852	NM_001966.4(EHHADH):c.1786C>G (p.Leu596Val)	EHHADH (L500V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682853	NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)	EHHADH (R455Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682854	NM_001966.4(EHHADH):c.1087C>T (p.Pro363Ser)	EHHADH (P267S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596030	NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)	EHHADH (T307A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501905	NM_001966.4(EHHADH):c.881C>T (p.Ala294Val)	EHHADH (A294V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar