WARS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	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 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 1251531	NM_015836.4(WARS2):c.*237G>C	WARS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 711288	NM_015836.4(WARS2):c.1079T>C (p.Leu360Pro)	WARS2 (L360P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2629112	NM_015836.4(WARS2):c.1067TGG[1] (p.Val357del)	WARS2 (V263del +4 more)	Microsatellite (inframe_deletion +1 more)	WARS2-related condition	GUncertain significance
Select item 2222988	NM_015836.4(WARS2):c.1054G>A (p.Glu352Lys)	WARS2 (E329K +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 1028002	NM_015836.4(WARS2):c.1016C>T (p.Ser339Leu)	WARS2 (S339L +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GUncertain significance
Select item 1715521	NM_015836.4(WARS2):c.1015T>A (p.Ser339Thr)	WARS2 (S245T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088081	NM_015836.4(WARS2):c.1011del (p.Ile337fs)	WARS2 (I314fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2169444	NM_015836.4(WARS2):c.1010T>C (p.Ile337Thr)	WARS2 (I314T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2859186	NM_015836.4(WARS2):c.963T>A (p.Ile321=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2075818	NM_015836.4(WARS2):c.956G>A (p.Arg319His)	WARS2 (R225H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1411807	NM_015836.4(WARS2):c.949A>G (p.Ile317Val)	WARS2 (I231V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 Disorders +3 more	GConflicting classifications of pathogenicity
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 2862803	NM_015836.4(WARS2):c.925G>T (p.Ala309Ser)	WARS2 (A223S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1029414	NM_015836.4(WARS2):c.899C>T (p.Ala300Val)	WARS2 (A214V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1969727	NM_015836.4(WARS2):c.887G>T (p.Gly296Val)	WARS2 (G202V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895133	NM_015836.4(WARS2):c.885G>A (p.Ala295=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2140135	NM_015836.4(WARS2):c.884C>T (p.Ala295Val)	WARS2 (A201V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1900374	NM_015836.4(WARS2):c.882C>T (p.Ser294=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1806490	NM_015836.4(WARS2):c.882C>A (p.Ser294Arg)	WARS2 (S200R +4 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonism-dystonia 3, childhood-onset	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 1909121	NM_015836.4(WARS2):c.875G>A (p.Arg292His)	WARS2 (R198H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065018	NM_015836.4(WARS2):c.874C>T (p.Arg292Cys)	WARS2 (R269C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152781	NM_015836.4(WARS2):c.859G>A (p.Val287Met)	WARS2 (V287M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2724174	NM_015836.4(WARS2):c.858C>G (p.Ser286=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2911706	NM_015836.4(WARS2):c.852G>C (p.Gly284=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911587	NM_015836.4(WARS2):c.849G>C (p.Thr283=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2438556	NM_015836.4(WARS2):c.844G>A (p.Val282Met)	WARS2 (V188M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994784	NM_015836.4(WARS2):c.841G>A (p.Ala281Thr)	WARS2 (A187T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1960743	NM_015836.4(WARS2):c.831G>C (p.Ala277=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1398732	NM_015836.4(WARS2):c.824T>C (p.Ile275Thr)	WARS2 (I181T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1500367	NM_015836.4(WARS2):c.814G>A (p.Val272Met)	WARS2 (V178M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2914802	NM_015836.4(WARS2):c.798G>A (p.Pro266=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1339214	NM_015836.4(WARS2):c.797C>T (p.Pro266Leu)	WARS2 (P172L +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +1 more	GUncertain significance
Select item 440918	NM_015836.4(WARS2):c.797del (p.Pro266fs)	WARS2 (P266fs +4 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +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 806197	NM_015836.4(WARS2):c.779C>T (p.Ser260Leu)	WARS2 (S260L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951086	NM_015836.4(WARS2):c.755G>A (p.Arg252His)	WARS2 (R158H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 521796	NM_015836.4(WARS2):c.754C>T (p.Arg252Cys)	WARS2 (R252C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1802679	NM_015836.4(WARS2):c.751T>C (p.Phe251Leu)	WARS2 (F157L +4 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1416240	NM_015836.4(WARS2):c.716G>A (p.Arg239Gln)	WARS2 (R145Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224152	NM_015836.4(WARS2):c.715C>T (p.Arg239Ter)	WARS2 (R239* +4 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +1 more	GLikely pathogenic
Select item 2095269	NM_015836.4(WARS2):c.712G>A (p.Val238Ile)	WARS2 (V152I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1940866	NM_015836.4(WARS2):c.679_687del (p.Met227_Lys229del)	WARS2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 724719	NM_015836.4(WARS2):c.684G>A (p.Ser228=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 986388	NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)	WARS2 (S134W +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GUncertain significance
Select item 1685473	NM_015836.4(WARS2):c.680T>C (p.Met227Thr)	WARS2 (M133T +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GLikely pathogenic
Select item 2704393	NM_015836.4(WARS2):c.635-1G>A	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2032086	NM_015836.4(WARS2):c.635-25GT[5]	WARS2 (L216fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely benign
Select item 976753	NM_015836.4(WARS2):c.622G>T (p.Glu208Ter)	WARS2 (E114* +5 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GPathogenic
Select item 1917413	NM_015836.4(WARS2):c.621C>T (p.Pro207=)	WARS2 (R179*)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2878298	NM_015836.4(WARS2):c.553C>A (p.His185Asn)	WARS2 (H162N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440920	NM_015836.4(WARS2):c.532G>C (p.Val178Leu)	WARS2 (V178L +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GPathogenic
Select item 1685474	NM_015836.4(WARS2):c.526G>T (p.Val176Phe)	WARS2 (R147L +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GLikely pathogenic
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 1908205	NM_015836.4(WARS2):c.516-14_516-11del	WARS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1271479	NM_015836.4(WARS2):c.516-68C>T	WARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1970246	NM_015836.4(WARS2):c.501C>T (p.Asp167=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1938930	NM_015836.4(WARS2):c.494C>T (p.Ala165Val)	WARS2 (A108V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1031940	NM_015836.4(WARS2):c.487C>T (p.Leu163Phe)	WARS2 (L140F +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +1 more	GUncertain significance
Select item 715849	NM_015836.4(WARS2):c.483A>G (p.Pro161=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	WARS2-related condition +1 more	GBenign/Likely benign
Select item 2140146	NM_015836.4(WARS2):c.469C>T (p.Leu157=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1979725	NM_015836.4(WARS2):c.467G>A (p.Gly156Asp)	WARS2 (G70D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1393752	NM_015836.4(WARS2):c.452_453inv (p.His151Arg)	WARS2 (H94R +4 more)	Inversion (missense variant +1 more)	not provided	GLikely benign
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 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 1948878	NM_015836.4(WARS2):c.442A>G (p.Lys148Glu)	WARS2 (K148E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956424	NM_015836.4(WARS2):c.433_434del (p.Lys145fs)	WARS2 (K122fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2970758	NM_015836.4(WARS2):c.430-17C>G	WARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907689	NM_015836.4(WARS2):c.429+10A>T	WARS2	Single nucleotide variant (intron variant)	WARS2-related condition +1 more	GLikely benign
Select item 1029413	NM_015836.4(WARS2):c.404G>A (p.Arg135Gln)	WARS2 (R41Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1931863	NM_015836.4(WARS2):c.385dup (p.Cys129fs)	WARS2 (C106fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2047634	NM_015836.4(WARS2):c.372T>C (p.Ser124=)	WARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709258	NM_015836.4(WARS2):c.368T>G (p.Leu123Ter)	WARS2 (L100* +4 more)	Single nucleotide variant (nonsense)	Parkinsonism-dystonia 3, childhood-onset	GLikely pathogenic
Select item 2005011	NM_015836.4(WARS2):c.366A>G (p.Gln122=)	WARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983363	NM_015836.4(WARS2):c.363A>G (p.Thr121=)	WARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984130	NM_015836.4(WARS2):c.358C>A (p.His120Asn)	WARS2 (H97N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930353	NM_015836.4(WARS2):c.349-11dup	WARS2	Duplication (intron variant)	not provided	GBenign
Select item 976754	NM_015836.4(WARS2):c.91-8725_349-3571del	LOC129388598, WARS2 +1 more	Deletion (splice acceptor variant +3 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GPathogenic
Select item 1559095	NM_015836.4(WARS2):c.348+18G>A	WARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 440914	NM_015836.4(WARS2):c.325del (p.Ser109fs)	WARS2 (S109fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1913129	NM_015836.4(WARS2):c.321A>G (p.Glu107=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1902972	NM_015836.4(WARS2):c.318G>A (p.Pro106=)	WARS2	Single nucleotide variant (synonymous variant +1 more)	WARS2-related condition +1 more	GLikely benign
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 592126	NM_015836.4(WARS2):c.317C>T (p.Pro106Leu)	WARS2 (P106L +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	GUncertain significance

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