"Ambry Genetics"[submitter] AND "WARS2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3189509	NM_015836.4(WARS2):c.1013G>C (p.Gly338Ala)	WARS2 (G252A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229934	NM_015836.4(WARS2):c.988C>T (p.His330Tyr)	WARS2 (H273Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 440917	NM_015836.4(WARS2):c.938A>T (p.Lys313Met)	WARS2 (K313M +4 more)	Single nucleotide variant (missense variant +1 more)	WARS2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2862803	NM_015836.4(WARS2):c.925G>T (p.Ala309Ser)	WARS2 (A223S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543701	NM_015836.4(WARS2):c.877C>T (p.Arg293Cys)	WARS2 (R199C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2417820	NM_015836.4(WARS2):c.806G>A (p.Arg269His)	WARS2 (R175H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2279574	NM_015836.4(WARS2):c.704T>A (p.Leu235Gln)	WARS2 (L235Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486647	NM_015836.4(WARS2):c.694C>A (p.Pro232Thr)	WARS2 (P138T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189512	NM_015836.4(WARS2):c.665A>G (p.Asp222Gly)	WARS2 (D136G +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2175815	NM_015836.4(WARS2):c.556A>G (p.Met186Val)	WARS2 (H157R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1029412	NM_015836.4(WARS2):c.348+3C>T	WARS2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2339126	NM_015836.4(WARS2):c.313_317delinsG (p.Asn105fs)	WARS2 (N105fs +2 more)	Indel (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2333099	NM_015836.4(WARS2):c.313A>G (p.Asn105Asp)	WARS2 (N105D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 440916	NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del)	WARS2 (L100del +2 more)	Microsatellite (inframe_deletion +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +1 more	GConflicting classifications of pathogenicity
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 1441706	NM_015836.4(WARS2):c.244C>G (p.Pro82Ala)	WARS2 (P59A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2327958	NM_015836.4(WARS2):c.241G>A (p.Val81Ile)	WARS2 (V58I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230095	NM_015836.4(WARS2):c.214A>G (p.Ser72Gly)	WARS2 (S49G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3189510	NM_015836.4(WARS2):c.205G>C (p.Val69Leu)	WARS2 (V46L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 521795	NM_015836.4(WARS2):c.143A>G (p.His48Arg)	WARS2 (H48R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2407993	NM_015836.4(WARS2):c.90+2T>A	LOC129931299, WARS2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189511	NM_015836.4(WARS2):c.48C>G (p.Ile16Met)	LOC129931299, WARS2 +1 more (I16M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336895	NM_015836.4(WARS2):c.46A>T (p.Ile16Phe)	LOC129931299, WARS2 +1 more (I16F)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1947813	NM_015836.4(WARS2):c.37T>C (p.Trp13Arg)	LOC129931299, WARS2 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2283912	NM_015836.4(WARS2):c.24A>T (p.Lys8Asn)	LOC129931299, WARS2 +1 more (K8N)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 32