C0027746[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374126	NM_001386393.1(PANK2):c.564G>A (p.Met188Ile)	PANK2 (M298I +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration +1 more	GPathogenic
Select item 374127	NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)	PANK2 (R357W +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmentary pallidal degeneration +2 more	GPathogenic
Select item 374009	NM_001098.3(ACO2):c.75C>T (p.Val25=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +5 more	GUncertain significance
Select item 374008	NM_001098.3(ACO2):c.76C>T (p.Leu26=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +6 more	GConflicting classifications of pathogenicity
Select item 374007	NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn)	ACO2 (K465N)	Single nucleotide variant (missense variant)	Brain atrophy +4 more	GUncertain significance
Select item 374006	NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr)	ACO2 (N466T)	Single nucleotide variant (missense variant)	Brain atrophy +4 more	GUncertain significance

ClinVar