"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NARS2"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2642201	NM_024678.6(NARS2):c.1290-36A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381168	NM_024678.6(NARS2):c.1289+7A>G	NARS2	Single nucleotide variant (intron variant)	NARS2-related condition +2 more	GBenign/Likely benign
Select item 381863	NM_024678.6(NARS2):c.1262+6G>A	NARS2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1335082	NM_024678.6(NARS2):c.1096G>A (p.Val366Ile)	NARS2 (V139I +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 condition +2 more	GBenign/Likely benign
Select item 2582897	NM_024678.6(NARS2):c.1027-1412A>G	NARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642202	NM_024678.6(NARS2):c.1027-1444C>G	NARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065599	NM_024678.6(NARS2):c.791C>G (p.Ser264Cys)	NARS2 (S37C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 682537	NM_024678.6(NARS2):c.492T>C (p.Ala164=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	NARS2-related condition +1 more	GBenign/Likely benign
Select item 2582898	NM_024678.6(NARS2):c.392A>G (p.Lys131Arg)	NARS2 (K131R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 727359	NM_024678.6(NARS2):c.25C>T (p.Arg9Trp)	NARS2 (R9W)	Single nucleotide variant (missense variant +1 more)	NARS2-related condition +1 more	GLikely benign