TARS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298147	NC_000001.11:g.150487218del	TARS2	Deletion	not provided	GBenign
Select item 676423	NM_025150.4(TARS2):c.-212T>C	TARS2	Single nucleotide variant	not provided	GBenign
Select item 512315	NM_025150.4(TARS2):c.-41C>T	TARS2	Single nucleotide variant	not specified	GLikely benign
Select item 517079	NM_025150.4(TARS2):c.-31_-28del	TARS2	Deletion	not provided	GBenign
Select item 383907	NM_025150.5(TARS2):c.-22G>A	TARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1915040	NM_025150.5(TARS2):c.1A>T (p.Met1Leu)	TARS2 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1352382	NM_025150.5(TARS2):c.5C>T (p.Ala2Val)	TARS2 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905892	NM_025150.5(TARS2):c.8T>A (p.Leu3Gln)	TARS2 (L3Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 559355	NM_025150.5(TARS2):c.49G>A (p.Ala17Thr)	TARS2 (A17T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 1258473	NM_025150.5(TARS2):c.66+136_66+139dup	TARS2	Duplication (intron variant)	not provided	GBenign
Select item 680801	NM_025150.5(TARS2):c.67-166A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380568	NM_025150.5(TARS2):c.81C>T (p.Thr27=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 806209	NM_025150.5(TARS2):c.101A>G (p.Glu34Gly)	TARS2 (E34G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 512112	NM_025150.5(TARS2):c.141A>G (p.Val47=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1944091	NM_025150.5(TARS2):c.143A>G (p.Lys48Arg)	TARS2 (K48R)	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 2421285	NM_025150.5(TARS2):c.171A>G (p.Glu57=)	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 2976756	NM_025150.5(TARS2):c.186G>A (p.Lys62=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2663569	NM_025150.5(TARS2):c.191C>G (p.Ser64Ter)	TARS2 (S64*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1722294	NM_025150.5(TARS2):c.193C>G (p.Leu65Val)	TARS2 (L65V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388256	NM_025150.5(TARS2):c.236C>T (p.Thr79Ile)	TARS2 (T79I)	Single nucleotide variant (missense variant +1 more)	not provided	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 381862	NM_025150.5(TARS2):c.263+8G>T	TARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3040414	NM_025150.5(TARS2):c.264-9C>T	TARS2	Single nucleotide variant (intron variant)	TARS2-related disorder	GLikely benign
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 623374	NM_025150.5(TARS2):c.326G>A (p.Arg109Gln)	TARS2 (R109Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 389371	NM_025150.5(TARS2):c.366C>T (p.Phe122=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 424913	NM_025150.5(TARS2):c.387+6T>C	TARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2020748	NM_025150.5(TARS2):c.387+14_387+15insAT	TARS2	Insertion (intron variant)	not provided	GLikely benign
Select item 1178378	NM_025150.5(TARS2):c.387+199del	TARS2	Deletion (intron variant)	not provided	GBenign
Select item 680802	NM_025150.5(TARS2):c.387+238A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680804	NM_025150.5(TARS2):c.387+310G>T	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317641	NM_025150.5(TARS2):c.388-286C>G	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680803	NM_025150.5(TARS2):c.388-266C>T	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227288	NM_025150.5(TARS2):c.388-174T>A	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774157	NM_025150.5(TARS2):c.388-10G>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1064848	NM_025150.5(TARS2):c.388-1G>C	TARS2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
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 2327319	NM_025150.5(TARS2):c.398A>G (p.His133Arg)	TARS2 (H133R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2020888	NM_025150.5(TARS2):c.399C>T (p.His133=)	TARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645680	NM_025150.5(TARS2):c.402C>T (p.Ser134=)	TARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031317	NM_025150.5(TARS2):c.420G>A (p.Gly140=)	TARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 680360	NM_025150.5(TARS2):c.420G>T (p.Gly140=)	TARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412763	NM_025150.5(TARS2):c.445G>A (p.Ala149Thr)	TARS2 (A149T)	Single nucleotide variant (missense variant)	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 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 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 1341959	NM_025150.5(TARS2):c.470C>G (p.Thr157Arg)	TARS2 (T157R)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 21	GPathogenic
Select item 1468830	NM_025150.5(TARS2):c.511_512del (p.Arg171fs)	TARS2 (R171fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1229860	NM_025150.5(TARS2):c.512+325T>C	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250356	NM_025150.5(TARS2):c.513-331_513-330dup	TARS2	Duplication (intron variant)	not provided	GBenign
Select item 1287489	NM_025150.5(TARS2):c.513-330del	TARS2	Deletion (intron variant)	not provided	GBenign
Select item 1232623	NM_025150.5(TARS2):c.513-329_513-326del	TARS2	Deletion (intron variant)	not provided	GBenign
Select item 668595	NM_025150.5(TARS2):c.513-282A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676424	NM_025150.5(TARS2):c.513-98C>G	TARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 419306	NM_025150.5(TARS2):c.513-10_513-8del	TARS2	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 2014619	NM_025150.5(TARS2):c.513-5del	TARS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1913310	NM_025150.5(TARS2):c.513-4C>G	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1505559	NM_025150.5(TARS2):c.513-3C>A	TARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1414648	NM_025150.5(TARS2):c.521G>A (p.Arg174Gln)	TARS2 (R174Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1896387	NM_025150.5(TARS2):c.561A>C (p.Glu187Asp)	TARS2 (E187D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386934	NM_025150.5(TARS2):c.562C>A (p.Leu188Ile)	TARS2 (L188I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 1935925	NM_025150.5(TARS2):c.578G>A (p.Arg193Gln)	TARS2 (R193Q)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2701152	NM_025150.5(TARS2):c.624G>A (p.Leu208=)	TARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1386636	NM_025150.5(TARS2):c.630+3G>C	TARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982394	NM_025150.5(TARS2):c.630+19G>A	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 143050	NM_025150.5(TARS2):c.695+3A>G	TARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
Select item 1220777	NM_025150.5(TARS2):c.695+142del	TARS2	Deletion (intron variant)	not provided	GBenign
Select item 680807	NM_025150.5(TARS2):c.695+193C>G	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287997	NM_025150.5(TARS2):c.695+320_695+322dup	TARS2	Duplication (intron variant)	not provided	GBenign
Select item 1278262	NM_025150.5(TARS2):c.695+321_695+322dup	TARS2	Duplication (intron variant)	not provided	GBenign
Select item 1238706	NM_025150.5(TARS2):c.695+321_695+322del	TARS2	Deletion (intron variant)	not provided	GBenign
Select item 1229282	NM_025150.5(TARS2):c.695+313_695+322del	TARS2	Deletion (intron variant)	not provided	GBenign
Select item 680805	NM_025150.5(TARS2):c.696-284A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316095	NM_025150.5(TARS2):c.722A>G (p.Gln241Arg)	TARS2 (Q241R)	Single nucleotide variant (missense variant +2 more)	not provided	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 1030906	NM_025150.5(TARS2):c.736C>T (p.Arg246Trp)	TARS2 (R246W)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 21 +1 more	GUncertain significance
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 1030907	NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	TARS2 (S258L)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 21 +1 more	GUncertain significance
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 764845	NM_025150.5(TARS2):c.774+8G>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676425	NM_025150.5(TARS2):c.775-116A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2986503	NM_025150.5(TARS2):c.775-16C>T	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896486	NM_025150.5(TARS2):c.775-14A>G	TARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 795801	NM_025150.5(TARS2):c.801A>G (p.Ser267=)	TARS2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 143049	NM_025150.5(TARS2):c.845C>T (p.Pro282Leu)	TARS2 (P282L)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation defect type 21	GLikely pathogenic
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
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

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