Unique variants in the TIMP1 gene

Information The variants shown are described using the NM_003254.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-15564C>A r.(?) p.(=) - likely benign g.47426318C>A g.47566919C>A ARAF(NM_001256196.1):c.736+8C>A (p.(=)) - SYN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-15502T>C r.(?) p.(=) - likely benign g.47426380T>C g.47566981T>C ARAF(NM_001256196.1):c.737-5T>C (p.?) - SYN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-15440G>T r.(?) p.(=) - likely benign g.47426442G>T g.47567043G>T ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile)) - SYN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-15438G>A r.(?) p.(=) - likely benign g.47426444G>A g.47567045G>A ARAF(NM_001256196.1):c.796G>A (p.V266M) - SYN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-15420T>G r.(?) p.(=) - likely benign g.47426462T>G g.47567063T>G ARAF(NM_001256196.1):c.814T>G (p.S272A) - ARAF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-15117T>C r.(?) p.(=) - VUS g.47426765T>C g.47567366T>C ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala)) - ARAF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-15109G>A r.(?) p.(=) - VUS g.47426773G>A g.47567374G>A ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met)) - SYN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-11069A>C r.(?) p.(=) - likely benign g.47430813A>C g.47571414A>C ARAF(NM_001256196.1):c.1787A>C (p.E596A) - ARAF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-9730G>A r.(?) p.(=) - likely benign g.47432152G>A g.47572753G>A SYN1(NM_006950.3):c.*111C>T - SYN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-9667G>T r.(?) p.(=) - benign g.47432215G>T g.47572816G>T SYN1(NM_006950.3):c.*48C>A - SYN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-9497G>A r.(?) p.(=) - likely benign g.47432385G>A g.47572986G>A SYN1(NM_006950.3):c.1996C>T (p.L666=) - SYN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-8437T>G r.(?) p.(=) - likely benign g.47433445T>G g.47574046T>G SYN1(NM_006950.3):c.1938A>C (p.P646=) - SYN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-8260G>A r.(?) p.(=) - likely benign g.47433622G>A g.47574223G>A SYN1(NM_006950.3):c.1761C>T (p.R587=) - SYN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-8247C>G r.(?) p.(=) - likely benign g.47433635C>G - SYN1(NM_006950.3):c.1748G>C (p.G583A) - SYN1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.-8198T>C r.(?) p.(=) - benign, likely benign g.47433684T>C g.47574285T>C SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_AMC
?/. 1 - c.-8159G>A r.(?) p.(=) - VUS g.47433723G>A g.47574324G>A SYN1(NM_006950.3):c.1660C>T (p.P554S) - SYN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-8128A>G r.(?) p.(=) - likely benign g.47433754A>G g.47574355A>G SYN1(NM_006950.3):c.1629T>C (p.P543=) - SYN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.-8114C>T r.(?) p.(=) - likely benign g.47433768C>T g.47574369C>T SYN1(NM_006950.3):c.1615G>A (p.G539S) - SYN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 1 - c.-7969_-7967del r.(?) p.(=) - VUS g.47433913_47433915del - SYN1(NM_006950.3):c.1473_1475delGCA (p.Q491del) - SYN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-7937G>A r.(?) p.(=) - likely benign g.47433945G>A g.47574546G>A - - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-7469G>A r.(?) p.(=) - likely benign g.47434413G>A g.47575014G>A SYN1(NM_006950.3):c.1305+114C>T - SYN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-7347G>A r.(?) p.(=) - likely benign g.47434535G>A g.47575136G>A SYN1(NM_006950.3):c.1297C>T (p.H433Y) - SYN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.-7314G>A r.(?) p.(=) - pathogenic g.47434568G>A g.47575169G>A SYN1(NM_006950.3):c.1264C>T (p.R422*) - SYN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.-6301G>A r.(?) p.(=) - likely benign g.47435581G>A g.47576182G>A SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 1 - c.-6257G>A r.(?) p.(=) - likely benign g.47435625G>A - SYN1(NM_006950.3):c.1063C>T (p.L355=) - SYN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-6241_-6235del r.(?) p.(=) - likely benign g.47435641_47435647del g.47576242_47576248del SYN1(NM_006950.3):c.1056-14_1056-8del (p.(=)) - SYN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-6163C>T r.(?) p.(=) - likely benign g.47435719C>T g.47576320C>T SYN1(NM_006950.3):c.1055+12G>A - SYN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-5999G>A r.(?) p.(=) - likely benign g.47435883G>A g.47576484G>A SYN1(NM_006950.3):c.980+14C>T - SYN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-5949C>T r.(?) p.(=) - likely benign g.47435933C>T g.47576534C>T SYN1(NM_006950.3):c.944G>A (p.R315H) - SYN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-5709C>T r.(?) p.(=) - likely benign g.47436173C>T g.47576774C>T SYN1(NM_006950.3):c.838-134G>A - SYN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-5001G>A r.(?) p.(=) - VUS g.47436881G>A g.47577482G>A - - SYN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.121+176G>A r.(=) p.(=) - VUS g.47443111G>A g.47583712G>A - - SYN1_000012, TIMP1_000004 - - - - Germline - - - - - Yu Sun
?/., -?/. 2 - c.148C>T r.(?) p.(Pro50Ser) - VUS, likely benign g.47444361C>T g.47584962C>T SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S) - SYN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.195G>T r.(?) p.(Met65Ile) - likely benign g.47444408G>T g.47585009G>T TIMP1(NM_003254.2):c.195G>T (p.M65I) - SYN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.261C>T r.(=) p.(=) - likely benign g.47444663C>T g.47585264C>T P87P - SYN1_000048 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 2 - c.329-63G>C r.(=) p.(=) - VUS g.47444879G>C g.47585480G>C - - TIMP1_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.329-19G>A r.(=) p.(=) - likely benign g.47444923G>A g.47585524G>A SYN1(NM_006950.3):c.775-8023C>T - SYN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 3 - c.372T>C r.(=), r.(?) p.(=), p.(Phe124=) - likely benign, VUS g.47444985T>C g.47585586T>C F124F - TIMP1_000002 recurrent, found 62 times PubMed: Tarpey 2009 - - Germline - 62/208 cases - - - Lucy Raymond, Yu Sun
-?/. 1 - c.408C>G r.(?) p.(Arg136=) - likely benign g.47445021C>G g.47585622C>G SYN1(NM_006950.3):c.775-8121G>C - SYN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.453+220A>G r.(=) p.(=) - VUS g.47445286A>G g.47585887A>G - - TIMP1_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.453+231C>T r.(=) p.(=) - likely benign g.47445297C>T g.47585898C>T SYN1(NM_006950.3):c.775-8397G>A - SYN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.474C>T r.(=) p.(=) - likely benign g.47445940C>T g.47586541C>T I158I - SYN1_000049 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.484C>G r.(?) p.(Leu162Val) - likely benign g.47445950C>G - TIMP1(NM_003254.2):c.484C>G (p.L162V) - SYN1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.512C>T r.(?) p.(Thr171Met) - likely benign g.47445978C>T g.47586579C>T TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met)) - SYN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.554G>A r.(?) p.(Arg185His) - likely benign g.47446020G>A g.47586621G>A TIMP1(NM_003254.2):c.554G>A (p.R185H) - SYN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.574C>T r.(?) p.(Arg192Trp) - VUS g.47446040C>T g.47586641C>T TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp)) - SYN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/., -?/. 2 - c.575G>A r.(?) p.(Arg192Gln) - VUS, likely benign g.47446041G>A g.47586642G>A TIMP1(NM_003254.2):c.575G>A (p.(Arg192Gln)) - SYN1_000050 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.611C>T r.(?) p.(Ser204Phe) - likely benign g.47446077C>T g.47586678C>T TIMP1(NM_003254.2):c.611C>T (p.S204F) - SYN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*18472A>G r.(=) p.(=) - likely benign g.47464562A>G g.47605163A>G SYN1(NM_006950.3):c.684+60T>C - SYN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*18617C>T r.(=) p.(=) - likely benign g.47464707C>T g.47605308C>T SYN1(NM_006950.3):c.599G>A (p.S200N) - SYN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*18635C>T r.(=) p.(=) - VUS g.47464725C>T g.47605326C>T SYN1(NM_006950.3):c.581G>A (p.R194H) - SYN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 5 - c.*18636G>A r.(=) p.(=) - VUS, likely benign g.47464726G>A g.47605327G>A SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 1 - c.*20271A>G r.(=) p.(=) - benign g.47466361A>G g.47606962A>G SYN1(NM_006950.3):c.510T>C (p.N170=) - SYN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.*20309T>G r.(=) p.(=) - likely benign g.47466399T>G g.47607000T>G SYN1(NM_006950.3):c.472A>C (p.N158H) - SYN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.*20331A>C r.(=) p.(=) - likely benign g.47466421A>C g.47607022A>C SYN1(NM_006950.3):c.450T>G (p.D150E) - SYN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.*20448A>G r.(=) p.(=) - pathogenic g.47466538A>G g.47607139A>G - - SYN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.*20459T>C r.(=) p.(=) - likely benign g.47466549T>C g.47607150T>C SYN1(NM_006950.3):c.426A>G (p.K142=) - SYN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.*32674G>A r.(=) p.(=) - likely benign g.47478764G>A g.47619365G>A SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 2 - c.*32849C>A r.(=) p.(=) - likely benign g.47478939C>A g.47619540C>A SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*32886G>C r.(=) p.(=) - likely benign g.47478976G>C g.47619577G>C SYN1(NM_006950.3):c.152C>G (p.(Ala51Gly)) - SYN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*32899C>T r.(=) p.(=) - likely benign g.47478989C>T g.47619590C>T SYN1(NM_006950.3):c.139G>A (p.G47R) - SYN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*33065G>C r.(=) p.(=) - likely benign g.47479155G>C g.47619756G>C SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*33118A>G r.(=) p.(=) - likely benign g.47479208A>G g.47619809A>G SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*37666T>C r.(=) p.(=) - VUS g.47483756T>C g.47624357T>C CFP(NM_002621.2):c.1328A>G (p.Q443R) - SYN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.*37710G>A r.(=) p.(=) - benign g.47483800G>A g.47624401G>A CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
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