"Genome-Nilou Lab"[submitter] AND "AARS2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357055	NM_020745.4(AARS2):c.2871A>G (p.Ser957=)	AARS2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1185550	NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	AARS2	Insertion (intron variant)	Leukoencephalopathy, progressive, with ovarian failure +2 more	GBenign
Select item 1168141	NM_020745.4(AARS2):c.2683-20A>G	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 357059	NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	AARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1185349	NM_020745.4(AARS2):c.2598+117G>C	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1185350	NM_020745.4(AARS2):c.2255+35C>A	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1185351	NM_020745.4(AARS2):c.1041-29A>G	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 1164206	NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)	AARS2 (I339V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign
Select item 357082	NM_020745.4(AARS2):c.243+6G>A	AARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 8 +2 more	GBenign