Unique variants in gene SYN1

Information The variants shown are described using the NM_006950.3 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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     
-/. 2 - c.-4673C>T 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_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.-4629A>G VUS r.(?) p.(=) g.47483756T>C - CFP(NM_002621.2):c.1328A>G (p.Q443R) - SYN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-81T>C 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.-28C>G 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.2del likely pathogenic r.(?) p.0? g.47479126del - 2delT (Met1fs) - SYN1_000020 - - - - Germline/De novo (untested) - - - - - IMGAG
-?/. 1 - c.139G>A likely benign r.(?) p.(Gly47Arg) g.47478989C>T - SYN1(NM_006950.3):c.139G>A (p.G47R) - SYN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.189G>T 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 1 c.236C>G - r.(?) p.(Ser79Trp) g.47478892G>C g.47619493G>C NG_008437.1(SYN1_v001):c.236C>G - SYN1_000005 - - - - Germline - - - - - Fabrizia Claudia Guarnieri
-?/. 1 - c.364C>T likely benign r.(?) p.(Pro122Ser) g.47478764G>A - SYN1(NM_006950.3):c.364C>T (p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.378-321G>A - - p.(=) g.47466918C>T g.47607519C>T - - SYN1_000019 - - - - Germline - - - - - Yu Sun
?/. 2 - c.378-281A>G - - p.(=) g.47466878T>C g.47607479T>C - - SYN1_000018 - - - - Germline - - - - - Yu Sun
-?/. 3 2 c.426A>G likely benign r.(?) p.(=) g.47466549T>C g.47607150T>C SYN1(NM_006950.3):c.426A>G (p.K142=), K142K - SYN1_000003 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Lucy Raymond
+/. 1 - c.435+2T>C pathogenic r.spl? p.? g.47466538A>G - - - SYN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.450T>G likely benign r.(?) p.(Asp150Glu) 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.472A>C likely benign r.(?) p.(Asn158His) 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
?/., -/., -?/. 4 3 c.510T>C benign r.(?) p.(=) g.47466361A>G g.47606962A>G SYN1(NM_006950.3):c.510T>C (p.N170=), N170N - SYN1_000017, SYN1_000004 VKGL data sharing initiative Nederland, recurrent, found 68 times PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 68/208 cases - - - Yu Sun, VKGL-NL, Lucy Raymond
?/., -?/. 5 - c.580C>T VUS, likely benign r.(?) p.(Arg194Cys) g.47464726G>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.581G>A VUS r.(?) p.(Arg194His) g.47464725C>T - SYN1(NM_006950.3):c.581G>A (p.R194H) - SYN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.599G>A likely benign r.(?) p.(Ser200Asn) 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.684+60T>C 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.774+85del - - p.(=) g.47464292del g.47604893del - - SYN1_000016 - - - - Germline - - - - - Yu Sun
?/. 2 - c.774+86del - - p.(=) g.47464291del g.47604892del - - SYN1_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.775-9753C>T - - p.(=) g.47446653G>A g.47587254G>A - - SYN1_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.775-9619A>C - - p.(=) g.47446519T>G g.47587120T>G - - SYN1_000013 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.775-9177G>A likely benign r.(=) p.(=) g.47446077C>T - TIMP1(NM_003254.2):c.611C>T (p.S204F) - SYN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./., -?/. 2 - c.775-9141C>T likely benign r.(=) p.(=) 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.775-9140G>A VUS r.(=) p.(=) g.47446040C>T - TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp)) - SYN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.775-9120C>T likely benign r.(=) p.(=) 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.775-9078G>A likely benign r.(=) p.(=) 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.775-9040G>A - r.(=) p.(=) g.47445940C>T - I158I - SYN1_000049 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.775-8397G>A 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
?/. 2 - c.775-8386T>C - - p.(=) g.47445286A>G g.47585887A>G - - TIMP1_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.775-8121G>C 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
./., ?/. 3 - c.775-8085A>G - 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.775-8023C>T 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
?/. 2 - c.775-7979C>G - - p.(=) g.47444879G>C g.47585480G>C - - TIMP1_000001 - - - - Germline - - - - - Yu Sun
./. 1 - c.775-7763G>A - r.(=) p.(=) g.47444663C>T - P87P - SYN1_000048 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.775-7508C>A likely benign r.(=) p.(=) g.47444408G>T - TIMP1(NM_003254.2):c.195G>T (p.M65I) - SYN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.775-7461G>A VUS, likely benign r.(=) p.(=) 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
?/. 2 - c.775-6211C>T - - p.(=) g.47443111G>A g.47583712G>A - - SYN1_000012, TIMP1_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.794C>T VUS r.(?) p.(Pro265Leu) g.47436881G>A - - - SYN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.838-134G>A 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
-?/. 1 - c.944G>A likely benign r.(?) p.(Arg315His) 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.980+14C>T 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.1055+12G>A likely benign r.(=) p.(=) g.47435719C>T - SYN1(NM_006950.3):c.1055+12G>A - SYN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1056-14_1056-8del 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
-?/. 4 9 c.1107C>T likely benign r.(?) p.(=) g.47435581G>A g.47576182G>A SYN1(NM_006950.3):c.1107C>T (p.I369=), I369I - SYN1_000001 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht, Lucy Raymond
+/. 1 - c.1264C>T pathogenic r.(?) p.(Arg422*) 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.1297C>T likely benign r.(?) p.(His433Tyr) g.47434535G>A - SYN1(NM_006950.3):c.1297C>T (p.H433Y) - SYN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1305+114C>T 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 11 c.1422C>T - r.(?) p.(=) g.47433961G>A g.47574562G>A P474P - SYN1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1438C>T likely benign r.(?) p.(Pro480Ser) g.47433945G>A - - - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1615G>A likely benign r.(?) p.(Gly539Ser) 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.1629T>C 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
?/. 1 - c.1660C>T VUS r.(?) p.(Pro554Ser) g.47433723G>A - SYN1(NM_006950.3):c.1660C>T (p.P554S) - SYN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.1699A>G benign, likely benign r.(?) p.(Thr567Ala) 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.1938A>C 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
?/. 1 - c.1983-349T>C - - p.(=) g.47432747A>G g.47573348A>G - - SYN1_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1996C>T 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.*48C>A 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.*111C>T 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.*1450T>G 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.*5490C>T VUS r.(=) p.(=) g.47426773G>A - ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met)) - SYN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*5498A>G VUS r.(=) p.(=) g.47426765T>C - ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala)) - ARAF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5801A>C 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.*5821C>A likely benign r.(=) p.(=) g.47426442G>T - ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile)) - SYN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*5945G>T 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.*6159C>G VUS r.(=) p.(=) g.47426104G>C - ARAF(NM_001256196.1):c.633G>C (p.Q211H) - SYN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*7734T>C likely benign r.(=) p.(=) g.47424529A>G - ARAF(NM_001256196.1):c.449A>G (p.(Asn150Ser)) - SYN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*8070G>A likely benign r.(=) p.(=) g.47424193C>T - ARAF(NM_001256196.1):c.201-3C>T - ARAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*9853G>A VUS r.(=) p.(=) g.47422410C>T - ARAF(NM_001256196.1):c.44C>T (p.S15F) - SYN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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