ClinVar for Gene (Select 123283) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 184

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3452994	NM_152334.3(TARS3):c.545A>G (p.Tyr182Cys)	TARS3 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452993	NM_152334.3(TARS3):c.2126G>A (p.Cys709Tyr)	TARS3 (C709Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452991	NM_152334.3(TARS3):c.1272C>G (p.Phe424Leu)	TARS3 (F424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452990	NM_152334.3(TARS3):c.1360C>G (p.Pro454Ala)	TARS3 (P454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452989	NM_152334.3(TARS3):c.287C>A (p.Ala96Asp)	LOC130058081, TARS3 (A96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452988	NM_152334.3(TARS3):c.8C>G (p.Ala3Gly)	LOC130058081, TARS3 (A3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452987	NM_152334.3(TARS3):c.2111C>T (p.Pro704Leu)	TARS3 (P704L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452986	NM_152334.3(TARS3):c.1298A>G (p.Asn433Ser)	TARS3 (N433S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452985	NM_152334.3(TARS3):c.1915A>G (p.Thr639Ala)	TARS3 (T639A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452984	NM_152334.3(TARS3):c.236G>A (p.Arg79Gln)	LOC130058081, TARS3 (R79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452983	NM_152334.3(TARS3):c.808G>T (p.Asp270Tyr)	TARS3 (D270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452982	NM_152334.3(TARS3):c.1331A>G (p.His444Arg)	TARS3 (H444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452981	NM_152334.3(TARS3):c.2012C>T (p.Ala671Val)	TARS3 (A671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452980	NM_152334.3(TARS3):c.470A>T (p.Asp157Val)	TARS3 (D157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452979	NM_152334.3(TARS3):c.367G>A (p.Glu123Lys)	TARS3 (E123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391927	GRCh37/hg19 15q26.1-26.3(chr15:93918298-102429112)x1	ADAMTS17, ALDH1A3 +23 more	Copy number loss	not provided	GPathogenic
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 3324426	NM_152334.3(TARS3):c.2009G>A (p.Arg670Gln)	TARS3 (R670Q)	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 3324424	NM_152334.3(TARS3):c.107A>C (p.Gln36Pro)	LOC130058081, TARS3 (Q36P)	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 3324422	NM_152334.3(TARS3):c.356A>C (p.Glu119Ala)	TARS3 (E119A)	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 3324420	NM_152334.3(TARS3):c.1091G>T (p.Trp364Leu)	TARS3 (W364L)	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 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
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 3173951	NM_152334.3(TARS3):c.817G>A (p.Val273Met)	TARS3 (V273M)	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 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 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 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 3173941	NM_152334.3(TARS3):c.257A>G (p.Glu86Gly)	LOC130058081, TARS3 (E86G)	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 3173939	NM_152334.3(TARS3):c.227C>T (p.Ala76Val)	LOC130058081, TARS3 (A76V)	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 3173929	NM_152334.3(TARS3):c.2011G>A (p.Ala671Thr)	TARS3 (A671T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3173922	NM_152334.3(TARS3):c.146G>T (p.Cys49Phe)	LOC130058081, TARS3 (C49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3173919	NM_152334.3(TARS3):c.134C>G (p.Ala45Gly)	LOC130058081, TARS3 (A45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173918	NM_152334.3(TARS3):c.134C>A (p.Ala45Glu)	LOC130058081, TARS3 (A45E)	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 3173916	NM_152334.3(TARS3):c.131A>G (p.Gln44Arg)	LOC130058081, TARS3 (Q44R)	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 3173914	NM_152334.3(TARS3):c.1103C>T (p.Pro368Leu)	TARS3 (P368L)	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 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2685535	GRCh37/hg19 15q26.3(chr15:101919415-102429112)x1	OR4F15, OR4F6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
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 2605982	NM_152334.3(TARS3):c.794A>G (p.Asp265Gly)	TARS3 (D265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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 2526433	NM_152334.3(TARS3):c.671A>G (p.Asp224Gly)	TARS3 (D224G)	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 2520657	NM_152334.3(TARS3):c.1301C>T (p.Thr434Met)	TARS3 (T434M)	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 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ASB7, BLM +86 more	Copy number gain	not provided	GPathogenic
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 2471739	NM_152334.3(TARS3):c.1345A>C (p.Thr449Pro)	TARS3 (T449P)	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 2455208	NM_152334.3(TARS3):c.823A>G (p.Ser275Gly)	TARS3 (S275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1340725	GRCh37/hg19 15q26.3(chr15:102151037-102224601)x1	TARS3, TM2D3	Copy number loss	not provided	GLikely benign
Select item 1340589	GRCh37/hg19 15q26.3(chr15:102194980-102278574)x1	TARS3	Copy number loss	not provided	GLikely benign
Select item 1340373	GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3	CHSY1, OR4F15 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340237	GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3	CHSY1, OR4F15 +6 more	Copy number gain	not provided	GLikely benign
Select item 1340191	GRCh37/hg19 15q26.3(chr15:101876976-102209916)x3	PCSK6, TARS3 +1 more	Copy number gain	not provided	GLikely benign
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980653	GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1	ASB7, CERS3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 980647	GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3	TARS3, PCSK6 +4 more	Copy number gain	not provided	GLikely benign
Select item 980643	GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	ALDH1A3, SYNM +19 more	Copy number loss	not provided	GPathogenic
Select item 815755	GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1	OR4F15, PGPEP1L +19 more	Copy number loss	not provided	GPathogenic
Select item 815754	GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1	SYNM, CHSY1 +19 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2