C3281192[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128256	NM_001098.3(ACO2):c.192A>C (p.Thr64=)	ACO2	Single nucleotide variant (synonymous variant)	Infantile cerebellar-retinal degeneration +3 more	GBenign
Select item 189310	NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	ACO2 (L74V)	Single nucleotide variant (missense variant)	Optic atrophy 9 +3 more	GConflicting classifications of pathogenicity
Select item 128257	NM_001098.3(ACO2):c.670C>T (p.Leu224=)	ACO2	Single nucleotide variant (synonymous variant)	Infantile cerebellar-retinal degeneration +3 more	GBenign
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 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 562211	NM_001098.3(ACO2):c.2153T>C (p.Ile718Thr)	ACO2, POLR3H (I718T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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