"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374009	NM_001098.3(ACO2):c.75C>T (p.Val25=)	ACO2	Single nucleotide variant (synonymous variant)	Central hypoventilation +5 more	GUncertain significance
Select item 374008	NM_001098.3(ACO2):c.76C>T (p.Leu26=)	ACO2	Single nucleotide variant (synonymous variant)	Acute intermittent porphyria +6 more	GConflicting classifications of pathogenicity
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 374007	NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn)	ACO2 (K465N)	Single nucleotide variant (missense variant)	Central hypoventilation +4 more	GUncertain significance
Select item 374006	NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr)	ACO2 (N466T)	Single nucleotide variant (missense variant)	Central hypoventilation +4 more	GUncertain significance
Select item 931020	NM_001098.3(ACO2):c.2253dup (p.Ile752fs)	ACO2, POLR3H (I752fs)	Duplication (3 prime UTR variant +1 more)	Optic atrophy 9	GPathogenic

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