"WARS2-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 2629112	NM_015836.4(WARS2):c.1067TGG[1] (p.Val357del)	WARS2 (V263del +4 more)	Microsatellite (inframe_deletion +1 more)	WARS2-related disorder	GUncertain significance
Select item 778236	NM_015836.4(WARS2):c.930G>A (p.Val310=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 +2 more	GConflicting classifications of pathogenicity
Select item 1579303	NM_015836.4(WARS2):c.525C>T (p.His175=)	WARS2 (R147C)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 715849	NM_015836.4(WARS2):c.483A>G (p.Pro161=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 777559	NM_015836.4(WARS2):c.452A>G (p.His151Arg)	WARS2 (H151R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1907689	NM_015836.4(WARS2):c.429+10A>T	WARS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2052412	NM_015836.4(WARS2):c.399A>G (p.Leu133=)	WARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1902972	NM_015836.4(WARS2):c.318G>A (p.Pro106=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1648359	NM_015836.4(WARS2):c.199G>C (p.Asp67His)	WARS2 (D44H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3057629	NM_015836.4(WARS2):c.156C>T (p.Tyr52=)	WARS2	Single nucleotide variant (synonymous variant +2 more)	WARS2-related disorder	GLikely benign
Select item 786469	NM_015836.4(WARS2):c.147G>C (p.Leu49=)	WARS2	Single nucleotide variant (synonymous variant +2 more)	WARS2-related disorder +1 more	GBenign
Select item 440915	NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	LOC129931299, WARS2 +1 more (W13G)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +5 more	GConflicting classifications of pathogenicity