"GeneDx"[submitter] AND "WARS2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 1251531	NM_015836.4(WARS2):c.*237G>C	WARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2222988	NM_015836.4(WARS2):c.1054G>A (p.Glu352Lys)	WARS2 (E329K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3368960	NM_015836.4(WARS2):c.1036G>A (p.Ala346Thr)	WARS2 (A252T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310313	NM_015836.4(WARS2):c.1030G>T (p.Glu344Ter)	WARS2 (E250* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 778236	NM_015836.4(WARS2):c.930G>A (p.Val310=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1341955	NM_015836.4(WARS2):c.833T>G (p.Val278Gly)	WARS2 (V278G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1169497	NM_015836.4(WARS2):c.799G>C (p.Ala267Pro)	WARS2 (A173P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1339214	NM_015836.4(WARS2):c.797C>T (p.Pro266Leu)	WARS2 (P172L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 440918	NM_015836.4(WARS2):c.797del (p.Pro266fs)	WARS2 (P266fs +4 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 224151	NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)	WARS2 (Y264C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 521796	NM_015836.4(WARS2):c.754C>T (p.Arg252Cys)	WARS2 (R252C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224152	NM_015836.4(WARS2):c.715C>T (p.Arg239Ter)	WARS2 (R239* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
Select item 1271479	NM_015836.4(WARS2):c.516-68C>T	WARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170463	NM_015836.4(WARS2):c.453C>T (p.His151=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2354670	NM_015836.4(WARS2):c.265C>T (p.Arg89Trp)	WARS2 (R66W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1307523	NM_015836.4(WARS2):c.248A>G (p.Gln83Arg)	WARS2 (Q60R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2663724	NM_015836.4(WARS2):c.116C>G (p.Ser39Cys)	WARS2 (S16C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1224733	NM_015836.4(WARS2):c.91-218C>A	WARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227609	NM_015836.4(WARS2):c.90+115C>T	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 440915	NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	WARS2-AS1, LOC129931299 +1 more (W13G)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1178536	NC_000001.11:g.119140767G>A	WARS2, WARS2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3360454	NM_015836.4(WARS2):c.818C>T (p.Ser273Phe)	WARS2 (S179F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 24