"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ACO2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189310	NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	ACO2 (L74V)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration +4 more	GConflicting classifications of pathogenicity
Select item 214018	NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	ACO2 (G240A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1639146	NM_001098.3(ACO2):c.941-19C>T	ACO2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 507259	NM_001098.3(ACO2):c.1038G>A (p.Lys346=)	ACO2	Single nucleotide variant (synonymous variant)	ACO2-related condition +3 more	GLikely benign
Select item 728759	NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp)	ACO2 (G463W)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 562210	NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)	ACO2, POLR3H (R684W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 214022	NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln)	ACO2, POLR3H (R684Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance

ClinVar