ClinVar for Gene (Select 80222) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371408	NM_025150.5(TARS2):c.1922T>C (p.Leu641Pro)	TARS2 (L511P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369200	NM_025150.5(TARS2):c.2069G>A (p.Arg690His)	TARS2 (R560H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359231	NM_025150.5(TARS2):c.1900C>T (p.Gln634Ter)	TARS2 (Q504* +2 more)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 3355784	NM_025150.5(TARS2):c.1026G>A (p.Glu342=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	TARS2-related disorder	GLikely benign
Select item 3346154	NM_025150.5(TARS2):c.1487C>T (p.Thr496Ile)	TARS2 (T366I +2 more)	Single nucleotide variant (missense variant +1 more)	TARS2-related disorder	GUncertain significance
Select item 3324418	NM_025150.5(TARS2):c.1075A>G (p.Thr359Ala)	TARS2 (T229A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233802	NM_025150.5(TARS2):c.1719-8_1719-4del	TARS2	Deletion (intron variant)	not specified	GUncertain significance
Select item 3173911	NM_025150.5(TARS2):c.91T>A (p.Trp31Arg)	TARS2 (W31R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3173910	NM_025150.5(TARS2):c.253C>T (p.Arg85Trp)	TARS2 (R85W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3173909	NM_025150.5(TARS2):c.2065C>T (p.Arg689Cys)	TARS2 (R559C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3173908	NM_025150.5(TARS2):c.1168C>A (p.Gln390Lys)	TARS2 (Q308K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3055229	NM_025150.5(TARS2):c.1470C>T (p.Phe490=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	TARS2-related disorder	GLikely benign
Select item 3051461	NM_025150.5(TARS2):c.1176C>T (p.Asp392=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	TARS2-related disorder	GLikely benign
Select item 3046733	NM_025150.5(TARS2):c.1617+5G>A	TARS2	Single nucleotide variant (intron variant)	TARS2-related disorder	GLikely benign
Select item 3040414	NM_025150.5(TARS2):c.264-9C>T	TARS2	Single nucleotide variant (intron variant)	TARS2-related disorder	GLikely benign
Select item 3040077	NM_025150.5(TARS2):c.1206C>T (p.Leu402=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	TARS2-related disorder	GLikely benign
Select item 3022170	NM_025150.5(TARS2):c.732C>T (p.His244=)	TARS2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007159	NM_025150.5(TARS2):c.2030G>A (p.Ser677Asn)	TARS2 (S547N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986503	NM_025150.5(TARS2):c.775-16C>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982394	NM_025150.5(TARS2):c.630+19G>A	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981954	NM_025150.5(TARS2):c.1719-15C>A	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979283	NM_025150.5(TARS2):c.756A>G (p.Gly252=)	TARS2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2976756	NM_025150.5(TARS2):c.186G>A (p.Lys62=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974620	NM_025150.5(TARS2):c.1401+14G>A	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958429	NM_025150.5(TARS2):c.1820+10C>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906082	NM_025150.5(TARS2):c.1635C>T (p.His545=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880506	NM_025150.5(TARS2):c.1035T>C (p.His345=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821988	NM_025150.5(TARS2):c.1820+16T>A	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816541	NM_025150.5(TARS2):c.1618-17C>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811985	NM_025150.5(TARS2):c.1020+20G>C	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759677	NM_025150.5(TARS2):c.531G>A (p.Glu177=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721601	NM_025150.5(TARS2):c.177G>A (p.Arg59=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712097	NM_025150.5(TARS2):c.1365G>A (p.Gln455=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703784	NM_025150.5(TARS2):c.9G>C (p.Leu3=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703322	NM_025150.5(TARS2):c.922-6C>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701152	NM_025150.5(TARS2):c.624G>A (p.Leu208=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2663569	NM_025150.5(TARS2):c.191C>G (p.Ser64Ter)	TARS2 (S64*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2662025	NM_025150.5(TARS2):c.634A>G (p.Asn212Asp)	TARS2 (N212D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2639161	NM_025150.5(TARS2):c.1821-5A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2581830	NM_025150.5(TARS2):c.1175A>T (p.Asp392Val)	TARS2 (D262V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2560321	NM_025150.5(TARS2):c.805G>A (p.Ala269Thr)	TARS2 (A269T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2553804	NM_025150.5(TARS2):c.190T>C (p.Ser64Pro)	TARS2 (S64P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537338	NM_025150.5(TARS2):c.1525G>T (p.Asp509Tyr)	TARS2 (D509Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530538	NM_025150.5(TARS2):c.1080G>T (p.Lys360Asn)	TARS2 (K230N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510924	NM_025150.5(TARS2):c.587G>A (p.Arg196Gln)	TARS2 (R196Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502679	NM_025150.5(TARS2):c.1301G>A (p.Gly434Glu)	TARS2 (G304E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2494810	NM_025150.5(TARS2):c.1132G>A (p.Val378Met)	TARS2 (V248M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442666	NM_025150.5(TARS2):c.1375G>A (p.Ala459Thr)	TARS2 (A329T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428824	NM_025150.5(TARS2):c.2053A>G (p.Thr685Ala)	TARS2 (T555A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 2421285	NM_025150.5(TARS2):c.171A>G (p.Glu57=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2327319	NM_025150.5(TARS2):c.398A>G (p.His133Arg)	TARS2 (H133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319050	NM_025150.5(TARS2):c.865G>T (p.Val289Phe)	TARS2 (V289F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2295497	NM_025150.5(TARS2):c.914T>C (p.Ile305Thr)	TARS2 (I305T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292467	NM_025150.5(TARS2):c.31C>T (p.Arg11Trp)	TARS2 (R11W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250652	NM_025150.5(TARS2):c.1462T>C (p.Phe488Leu)	TARS2 (F358L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247146	NM_025150.5(TARS2):c.1418A>G (p.Gln473Arg)	TARS2 (Q473R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2236135	NM_025150.5(TARS2):c.1688T>C (p.Leu563Pro)	TARS2 (L433P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224772	NM_025150.5(TARS2):c.604C>T (p.Arg202Trp)	TARS2 (R202W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2190321	NM_025150.5(TARS2):c.566C>A (p.Thr189Lys)	TARS2 (T189K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2173623	NM_025150.5(TARS2):c.1976G>A (p.Arg659Gln)	TARS2 (R577Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160272	NM_025150.5(TARS2):c.1238+2T>G	TARS2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2121537	NM_025150.5(TARS2):c.1677T>G (p.Leu559=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2120282	NM_025150.5(TARS2):c.389T>G (p.Val130Gly)	TARS2 (V130G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118908	NM_025150.5(TARS2):c.1192A>G (p.Ile398Val)	TARS2 (I316V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2115919	NM_025150.5(TARS2):c.2079G>C (p.Glu693Asp)	TARS2 (E563D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107300	NM_025150.5(TARS2):c.451C>T (p.Leu151Phe)	TARS2 (L151F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106750	NM_025150.5(TARS2):c.1053G>A (p.Val351=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2103647	NM_025150.5(TARS2):c.1144G>C (p.Gly382Arg)	TARS2 (G300R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2083438	NM_025150.5(TARS2):c.1767C>T (p.Leu589=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2081110	NM_025150.5(TARS2):c.1248C>T (p.Phe416=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066981	NM_025150.5(TARS2):c.696-5C>T	MIR6878, TARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2063493	NM_025150.5(TARS2):c.1313G>A (p.Arg438Gln)	TARS2 (R308Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058561	NM_025150.5(TARS2):c.159G>A (p.Met53Ile)	TARS2 (M53I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2038000	NM_025150.5(TARS2):c.1333dup (p.Leu445fs)	TARS2 (L315fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2031317	NM_025150.5(TARS2):c.420G>A (p.Gly140=)	TARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020888	NM_025150.5(TARS2):c.399C>T (p.His133=)	TARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020748	NM_025150.5(TARS2):c.387+14_387+15insAT	TARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 2019671	NM_025150.5(TARS2):c.1131C>A (p.Ala377=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017819	NM_025150.5(TARS2):c.1686A>G (p.Gln562=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2014619	NM_025150.5(TARS2):c.513-5del	TARS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2009410	NM_025150.5(TARS2):c.325C>T (p.Arg109Trp)	TARS2 (R109W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2007626	NM_025150.5(TARS2):c.1020+18T>C	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992423	NM_025150.5(TARS2):c.774+5G>T	TARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 21	GUncertain significance
Select item 1992422	NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)	TARS2 (E212D +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 21	GUncertain significance
Select item 1992421	NM_025150.5(TARS2):c.1255C>T (p.Arg419Trp)	TARS2 (R337W +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 1992420	NM_025150.5(TARS2):c.980G>A (p.Arg327Gln)	TARS2 (R327Q)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 1992419	NM_025150.5(TARS2):c.1318G>A (p.Glu440Lys)	TARS2 (E310K +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 1992418	NM_025150.5(TARS2):c.470C>T (p.Thr157Ile)	TARS2 (T157I)	Single nucleotide variant (missense variant +1 more)	TARS2-related disorder +1 more	GUncertain significance
Select item 1992417	NM_025150.5(TARS2):c.464C>T (p.Pro155Leu)	TARS2 (P155L)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 1992416	NM_025150.5(TARS2):c.1534G>A (p.Glu512Lys)	TARS2 (E382K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992415	NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)	TARS2 (R554Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation defect type 21	GPathogenic/Likely pathogenic
Select item 1992414	NM_025150.5(TARS2):c.1630C>T (p.Leu544Phe)	TARS2 (L462F +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 21	GUncertain significance
Select item 1991918	NM_025150.5(TARS2):c.61C>T (p.His21Tyr)	TARS2 (H21Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991221	NM_025150.5(TARS2):c.696-18del	MIR6878, TARS2	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1964513	NM_025150.5(TARS2):c.1739G>A (p.Arg580His)	TARS2 (R450H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962754	NM_025150.5(TARS2):c.850A>G (p.Thr284Ala)	TARS2 (T284A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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