C4518839[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357059	NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 1685483	NM_020745.4(AARS2):c.2487+1G>C	AARS2, POLR1C	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1322029	NM_020745.4(AARS2):c.2255+1G>A	AARS2, POLR1C	Single nucleotide variant (intron variant +1 more)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1685484	NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)	AARS2, POLR1C (S361F)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 8 +1 more	GConflicting classifications of pathogenicity
Select item 1685485	NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)	POLR1C, AARS2 (R322C)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 8	GPathogenic
Select item 1685225	NM_020745.4(AARS2):c.790G>A (p.Val264Met)	AARS2, POLR1C (V264M)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 8	GLikely pathogenic

ClinVar