C3281192[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 844771	NM_001098.3(ACO2):c.245T>C (p.Ile82Thr)	ACO2 (I82T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214018	NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	ACO2 (G240A)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration +4 more	GUncertain significance
Select item 218316	NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)	ACO2, POLR3H (R607C)	Single nucleotide variant (3 prime UTR variant +1 more)	Optic atrophy 9 +2 more	GConflicting classifications of pathogenicity
Select item 2582321	NM_001098.3(ACO2):c.1940C>G (p.Ala647Gly)	ACO2, POLR3H (A647G)	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile cerebellar-retinal degeneration	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)	Infantile cerebellar-retinal degeneration +3 more	GUncertain significance
Select item 218317	NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	ACO2, POLR3H (P712L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1031072	NM_001098.3(ACO2):c.2302G>A (p.Ala768Thr)	ACO2, POLR3H (A768T)	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile cerebellar-retinal degeneration	GUncertain significance

ClinVar