Unique variants in gene TIMP1

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

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 likely benign r.(?) p.(=) g.47426318C>A - ARAF(NM_001256196.1):c.736+8C>A (p.(=)) - SYN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-15440G>T likely benign r.(?) p.(=) g.47426442G>T - ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile), p.(=), p.(Ser262Ile)) - SYN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-15420T>G likely benign r.(?) p.(=) g.47426462T>G - ARAF(NM_001256196.1):c.814T>G (p.S272A) - ARAF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-15117T>C VUS r.(?) p.(=) g.47426765T>C - ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala), p.(=), p.(Val337Ala)) - ARAF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-15109G>A VUS r.(?) p.(=) g.47426773G>A - ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met), p.(=), p.(Val340Met)) - SYN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-11069A>C likely benign r.(?) p.(=) g.47430813A>C - ARAF(NM_001256196.1):c.1787A>C (p.E596A) - ARAF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-9730G>A likely benign r.(?) p.(=) g.47432152G>A - SYN1(NM_006950.3):c.*111C>T - SYN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-9667G>T benign r.(?) p.(=) g.47432215G>T - SYN1(NM_006950.3):c.*48C>A - SYN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-9497G>A likely benign r.(?) p.(=) g.47432385G>A - SYN1(NM_006950.3):c.1996C>T (p.L666=) - SYN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-8437T>G likely benign r.(?) p.(=) g.47433445T>G - SYN1(NM_006950.3):c.1938A>C (p.P646=) - SYN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.-8198T>C benign, likely benign r.(?) p.(=) g.47433684T>C - SYN1(NM_006950.3):c.1699A>G (p.T567A) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.-8159G>A VUS r.(?) p.(=) g.47433723G>A - SYN1(NM_006950.3):c.1660C>T (p.P554S) - SYN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-8128A>G likely benign r.(?) p.(=) g.47433754A>G - SYN1(NM_006950.3):c.1629T>C (p.P543=) - SYN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.-8114C>T likely benign r.(?) p.(=) g.47433768C>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.-7937G>A likely benign r.(?) p.(=) g.47433945G>A - SYN1(NM_006950.3):c.1438C>T (p.Pro480Ser) - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-7727A>G likely benign r.(?) p.(=) g.47434155A>G - SYN1(NM_006950.3):c.1325T>C (p.(Leu442Pro)) - SYN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-7469G>A likely benign r.(?) p.(=) g.47434413G>A - SYN1(NM_006950.3):c.1305+114C>T - SYN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.-7314G>A pathogenic r.(?) p.(=) g.47434568G>A - SYN1(NM_006950.3):c.1264C>T (p.R422*) - SYN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-7202G>A likely benign r.(?) p.(=) g.47434680G>A - SYN1(NM_006950.3):c.1159-7C>T (p.(=)) - SYN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.-6301G>A likely benign r.(?) p.(=) g.47435581G>A - SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.-6241_-6235del likely benign r.(?) p.(=) g.47435641_47435647del - SYN1(NM_006950.3):c.1056-14_1056-8del (p.(=)) - SYN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-5999G>A likely benign r.(?) p.(=) g.47435883G>A - SYN1(NM_006950.3):c.980+14C>T - SYN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-5949C>T likely benign r.(?) p.(=) g.47435933C>T - SYN1(NM_006950.3):c.944G>A (p.R315H) - SYN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-5709C>T likely benign r.(?) p.(=) g.47436173C>T - SYN1(NM_006950.3):c.838-134G>A - SYN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.121+176G>A - - - g.47443111G>A g.47583712G>A - - SYN1_000012, TIMP1_000004 - - - - Germline - - - - - Yu Sun
?/., -?/. 2 - c.148C>T VUS, likely benign r.(?) p.(Pro50Ser) g.47444361C>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 likely benign r.(?) p.(Met65Ile) g.47444408G>T - TIMP1(NM_003254.2):c.195G>T (p.M65I) - SYN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.261C>T - r.(=) p.(=) g.47444663C>T - P87P - SYN1_000048 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 2 - c.329-63G>C - - - g.47444879G>C g.47585480G>C - - TIMP1_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.329-19G>A likely benign r.(=) p.(=) g.47444923G>A - SYN1(NM_006950.3):c.775-8023C>T - SYN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.329-4T>A likely benign r.spl? p.? g.47444938T>A - TIMP1(NM_003254.2):c.329-4T>A (p.?) - SYN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 3 - c.372T>C - r.(=) p.(=) 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 likely benign r.(?) p.(=) g.47445021C>G - SYN1(NM_006950.3):c.775-8121G>C - SYN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.453+220A>G - - - g.47445286A>G g.47585887A>G - - TIMP1_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.453+231C>T likely benign r.(=) p.(=) g.47445297C>T - SYN1(NM_006950.3):c.775-8397G>A - SYN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.474C>T - r.(=) p.(=) g.47445940C>T - I158I - SYN1_000049 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.512C>T likely benign r.(?) p.(Thr171Met) g.47445978C>T - TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met)) - SYN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.554G>A likely benign r.(?) p.(Arg185His) g.47446020G>A - TIMP1(NM_003254.2):c.554G>A (p.R185H) - SYN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.574C>T VUS r.(?) p.(Arg192Trp) g.47446040C>T - TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp)) - SYN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.575G>A likely benign r.(?) p.(Arg192Gln) g.47446041G>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
-?/. 1 - c.611C>T likely benign r.(?) p.(Ser204Phe) g.47446077C>T - TIMP1(NM_003254.2):c.611C>T (p.S204F) - SYN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.*18361G>A likely pathogenic r.(=) p.(=) g.47464451G>A - SYN1(NM_006950.3):c.700C>T (p.(Arg234Ter)) - SYN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*18472A>G likely benign r.(=) p.(=) g.47464562A>G - SYN1(NM_006950.3):c.684+60T>C - SYN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*18553G>T VUS r.(=) p.(=) g.47464643G>T - SYN1():c.663C>A (p.(Asn221Lys)) - SYN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*18617C>T likely benign r.(=) p.(=) g.47464707C>T - SYN1(NM_006950.3):c.599G>A (p.S200N) - SYN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*18635C>T VUS r.(=) p.(=) g.47464725C>T - SYN1(NM_006950.3):c.581G>A (p.R194H) - SYN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 5 - c.*18636G>A VUS, likely benign r.(=) p.(=) g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C) - 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 benign r.(=) p.(=) g.47466361A>G - SYN1(NM_006950.3):c.510T>C (p.N170=) - SYN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.*20309T>G likely benign r.(=) p.(=) g.47466399T>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 likely benign r.(=) p.(=) g.47466421A>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
-?/. 2 - c.*20459T>C likely benign r.(=) p.(=) g.47466549T>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
-?/. 1 - c.*32674G>A likely benign r.(=) p.(=) g.47478764G>A - SYN1(NM_006950.3):c.364C>T (p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*32849C>A likely benign r.(=) p.(=) g.47478939C>A - SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*33065G>C likely benign r.(=) p.(=) g.47479155G>C - SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*33118A>G likely benign r.(=) p.(=) g.47479208A>G - SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*37710G>A benign r.(=) p.(=) g.47483800G>A - CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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