"NARS2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058399	NM_024678.6(NARS2):c.1350A>G (p.Glu450=)	NARS2	Single nucleotide variant (synonymous variant)	NARS2-related disorder	GLikely benign
Select item 381168	NM_024678.6(NARS2):c.1289+7A>G	NARS2	Single nucleotide variant (intron variant)	NARS2-related disorder +2 more	GBenign/Likely benign
Select item 381863	NM_024678.6(NARS2):c.1262+6G>A	NARS2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3040851	NM_024678.6(NARS2):c.1165-8_1165-7del	NARS2	Deletion (intron variant)	NARS2-related disorder	GLikely benign
Select item 729864	NM_024678.6(NARS2):c.1132A>C (p.Met378Leu)	LOC130006506, NARS2 (M151L +1 more)	Single nucleotide variant (missense variant)	NARS2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 786829	NM_024678.6(NARS2):c.1082A>G (p.Asn361Ser)	NARS2 (N361S +1 more)	Single nucleotide variant (missense variant)	NARS2-related disorder +2 more	GBenign/Likely benign
Select item 745037	NM_024678.6(NARS2):c.1008C>G (p.Asn336Lys)	NARS2 (N336K +1 more)	Single nucleotide variant (missense variant)	NARS2-related disorder +1 more	GLikely benign
Select item 3057499	NM_024678.6(NARS2):c.705G>A (p.Val235=)	NARS2	Single nucleotide variant (synonymous variant)	NARS2-related disorder	GLikely benign
Select item 1511898	NM_024678.6(NARS2):c.689+6A>G	NARS2	Single nucleotide variant (intron variant)	NARS2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 682537	NM_024678.6(NARS2):c.492T>C (p.Ala164=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	NARS2-related disorder +1 more	GBenign/Likely benign
Select item 3051887	NM_024678.6(NARS2):c.447T>C (p.Thr149=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	NARS2-related disorder	GLikely benign
Select item 386299	NM_024678.6(NARS2):c.423A>G (p.Gln141=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	NARS2-related disorder +2 more	GBenign/Likely benign
Select item 727359	NM_024678.6(NARS2):c.25C>T (p.Arg9Trp)	NARS2 (R9W)	Single nucleotide variant (missense variant +1 more)	NARS2-related disorder +1 more	GLikely benign