TARS3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 149341	GRCh38/hg38 15q26.3(chr15:101395560-101843276)x3	LINC02348, LOC121847966 +15 more	Copy number gain	See cases	GLikely benign
Select item 147260	GRCh38/hg38 15q26.3(chr15:101474129-101716545)x3	LINC02348, LOC126862257 +7 more	Copy number gain	See cases	GBenign
Select item 144538	GRCh38/hg38 15q26.3(chr15:101500643-101716531)x3	LINC02348, LOC126862257 +6 more	Copy number gain	See cases	GBenign
Select item 147269	GRCh38/hg38 15q26.3(chr15:101500777-101723215)x3	LINC02348, LOC126862257 +6 more	Copy number gain	See cases	GBenign
Select item 58226	GRCh38/hg38 15q26.3(chr15:101500777-101843270)x1	LINC02348, LOC126862257 +12 more	Copy number loss	See cases	GUncertain significance
Select item 154700	GRCh38/hg38 15q26.3(chr15:101552822-101843270)x1	LINC02348, LOC126862257 +12 more	Copy number loss	See cases	GLikely benign
Select item 150059	GRCh38/hg38 15q26.3(chr15:101608448-101716531)x3	LINC02348, LOC130058078 +4 more	Copy number gain	See cases	GLikely benign
Select item 153566	GRCh38/hg38 15q26.3(chr15:101621199-101888909)x1	LOC126862258, LOC126862259 +9 more	Copy number loss	See cases	GLikely benign
Select item 144300	GRCh38/hg38 15q26.3(chr15:101621277-101666176)x3	LOC130058078, LOC130058079 +3 more	Copy number gain	See cases	GBenign
Select item 144266	GRCh38/hg38 15q26.3(chr15:101621277-101708810)x3	LOC130058078, LOC130058079 +3 more	Copy number gain	See cases	GBenign
Select item 144573	GRCh38/hg38 15q26.3(chr15:101621303-101711860)x3	LOC130058078, LOC130058079 +3 more	Copy number gain	See cases	GBenign/Likely benign
Select item 57191	GRCh38/hg38 15q26.3(chr15:101642152-101843270)x3	LOC126862258, LOC126862259 +8 more	Copy number gain	See cases	GBenign
Select item 2548159	NM_152334.3(TARS3):c.2380C>G (p.Arg794Gly)	TARS3 (R794G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546800	NM_152334.3(TARS3):c.2350A>G (p.Ile784Val)	TARS3 (I784V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173940	NM_152334.3(TARS3):c.2303G>A (p.Arg768Gln)	TARS3 (R768Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173938	NM_152334.3(TARS3):c.2264T>C (p.Val755Ala)	TARS3 (V755A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173937	NM_152334.3(TARS3):c.2245T>C (p.Tyr749His)	TARS3 (Y749H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173936	NM_152334.3(TARS3):c.2227A>T (p.Asn743Tyr)	TARS3 (N743Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173935	NM_152334.3(TARS3):c.2221A>C (p.Ile741Leu)	TARS3 (I741L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173934	NM_152334.3(TARS3):c.2206A>G (p.Thr736Ala)	TARS3 (T736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173933	NM_152334.3(TARS3):c.2153G>A (p.Ser718Asn)	TARS3 (S718N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173932	NM_152334.3(TARS3):c.2152A>G (p.Ser718Gly)	TARS3 (S718G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173931	NM_152334.3(TARS3):c.2095C>A (p.Gln699Lys)	TARS3 (Q699K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173930	NM_152334.3(TARS3):c.2093G>A (p.Arg698His)	TARS3 (R698H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461667	NM_152334.3(TARS3):c.2065G>A (p.Gly689Arg)	TARS3 (G689R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173929	NM_152334.3(TARS3):c.2011G>A (p.Ala671Thr)	TARS3 (A671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324426	NM_152334.3(TARS3):c.2009G>A (p.Arg670Gln)	TARS3 (R670Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57055	GRCh38/hg38 15q26.3(chr15:101666117-101723215)x3	TARS3	Copy number gain	See cases	GBenign
Select item 3173928	NM_152334.3(TARS3):c.1905T>G (p.His635Gln)	TARS3 (H635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173927	NM_152334.3(TARS3):c.1759G>A (p.Glu587Lys)	TARS3 (E587K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324423	NM_152334.3(TARS3):c.1721A>G (p.Gln574Arg)	TARS3 (Q574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173926	NM_152334.3(TARS3):c.1606C>T (p.Arg536Cys)	TARS3 (R536C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173925	NM_152334.3(TARS3):c.1565A>G (p.Asn522Ser)	TARS3 (N522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324421	NM_152334.3(TARS3):c.1524A>C (p.Glu508Asp)	TARS3 (E508D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489449	NM_152334.3(TARS3):c.1507C>T (p.Pro503Ser)	TARS3 (P503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173924	NM_152334.3(TARS3):c.1505G>A (p.Arg502His)	TARS3 (R502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173923	NM_152334.3(TARS3):c.1497T>A (p.Phe499Leu)	TARS3 (F499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150725	GRCh38/hg38 15q26.3(chr15:101685919-101843276)x1	LOC126862258, LOC126862259 +5 more	Copy number loss	See cases	GLikely benign
Select item 3173921	NM_152334.3(TARS3):c.1454T>C (p.Phe485Ser)	TARS3 (F485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173920	NM_152334.3(TARS3):c.1390G>C (p.Ala464Pro)	TARS3 (A464P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173917	NM_152334.3(TARS3):c.1346C>T (p.Thr449Met)	TARS3 (T449M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471739	NM_152334.3(TARS3):c.1345A>C (p.Thr449Pro)	TARS3 (T449P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147947	GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3	TARS3	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 147118	GRCh38/hg38 15q26.3(chr15:101694128-101723186)x3	TARS3	Copy number gain	See cases	GBenign
Select item 2520657	NM_152334.3(TARS3):c.1301C>T (p.Thr434Met)	TARS3 (T434M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173915	NM_152334.3(TARS3):c.1286C>G (p.Ala429Gly)	TARS3 (A429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324425	NM_152334.3(TARS3):c.1156A>G (p.Met386Val)	TARS3 (M386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173914	NM_152334.3(TARS3):c.1103C>T (p.Pro368Leu)	TARS3 (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324420	NM_152334.3(TARS3):c.1091G>T (p.Trp364Leu)	TARS3 (W364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173913	NM_152334.3(TARS3):c.1051A>G (p.Ile351Val)	TARS3 (I351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173912	NM_152334.3(TARS3):c.1025G>A (p.Gly342Asp)	TARS3 (G342D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521799	NM_152334.3(TARS3):c.1021A>G (p.Lys341Glu)	TARS3 (K341E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173953	NM_152334.3(TARS3):c.976G>T (p.Ala326Ser)	TARS3 (A326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173952	NM_152334.3(TARS3):c.880C>T (p.Pro294Ser)	TARS3 (P294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455208	NM_152334.3(TARS3):c.823A>G (p.Ser275Gly)	TARS3 (S275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173951	NM_152334.3(TARS3):c.817G>A (p.Val273Met)	TARS3 (V273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510960	NM_152334.3(TARS3):c.808G>A (p.Asp270Asn)	TARS3 (D270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605982	NM_152334.3(TARS3):c.794A>G (p.Asp265Gly)	TARS3 (D265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173950	NM_152334.3(TARS3):c.730A>G (p.Met244Val)	TARS3 (M244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173949	NM_152334.3(TARS3):c.691G>T (p.Val231Leu)	TARS3 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526433	NM_152334.3(TARS3):c.671A>G (p.Asp224Gly)	TARS3 (D224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173947	NM_152334.3(TARS3):c.629G>A (p.Arg210His)	TARS3 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173946	NM_152334.3(TARS3):c.628C>A (p.Arg210Ser)	TARS3 (R210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324419	NM_152334.3(TARS3):c.605A>G (p.Asn202Ser)	TARS3 (N202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645759	NM_152334.3(TARS3):c.587C>T (p.Thr196Met)	TARS3 (T196M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3173945	NM_152334.3(TARS3):c.415G>A (p.Glu139Lys)	TARS3 (E139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173944	NM_152334.3(TARS3):c.391A>G (p.Ile131Val)	TARS3 (I131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324427	NM_152334.3(TARS3):c.370G>A (p.Val124Met)	TARS3 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173943	NM_152334.3(TARS3):c.370G>T (p.Val124Leu)	TARS3 (V124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173942	NM_152334.3(TARS3):c.368A>T (p.Glu123Val)	TARS3 (E123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324422	NM_152334.3(TARS3):c.356A>C (p.Glu119Ala)	TARS3 (E119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173941	NM_152334.3(TARS3):c.257A>G (p.Glu86Gly)	LOC130058081, TARS3 (E86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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