Full data view for gene SYN1

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

113 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-4673C>T r.(?) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-4673C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4629A>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-81T>C r.(?) p.(=) Unknown - likely benign g.47479208A>G g.47619809A>G SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-28C>G r.(?) p.(=) Unknown - likely benign g.47479155G>C g.47619756G>C SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2del r.(?) p.0? Both (homozygous) - likely pathogenic g.47479126del g.47619727del 2delT (Met1fs) - SYN1_000020 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? - - - M - (Germany) - - 0 - - 1 IMGAG
-?/. - c.139G>A r.(?) p.(Gly47Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.152C>G r.(?) p.(Ala51Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189G>T r.(?) p.(Pro63=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189G>T r.(?) p.(Pro63=) Unknown - likely benign g.47478939C>A - SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.236C>G r.(?) p.(Ser79Trp) Maternal (confirmed) - likely pathogenic g.47478892G>C g.47619493G>C NG_008437.1(SYN1_v001):c.236C>G - SYN1_000005 - - - - Germline - - - 0 - DNA SEQ - - MRX;IDX - - - M - Belgium - - 0 - - 1 Fabrizia Claudia Guarnieri
-?/. - c.364C>T r.(?) p.(Pro122Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.364C>T r.(?) p.(Pro122Ser) Unknown - likely benign g.47478764G>A - SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.378-321G>A r.(=) p.(=) Maternal (inferred) - VUS g.47466918C>T g.47607519C>T - - SYN1_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.378-321G>A r.(=) p.(=) Maternal (inferred) - VUS g.47466918C>T g.47607519C>T - - SYN1_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.378-281A>G r.(=) p.(=) Maternal (inferred) - VUS g.47466878T>C g.47607479T>C - - SYN1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.378-281A>G r.(=) p.(=) Maternal (inferred) - VUS g.47466878T>C g.47607479T>C - - SYN1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 2 c.426A>G r.(?) p.(=) Parent #1 - likely benign g.47466549T>C g.47607150T>C K142K - SYN1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377231-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.426A>G r.(?) p.(Lys142=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.426A>G r.(?) p.(Lys142=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.435+2T>C r.spl? p.? Unknown - pathogenic g.47466538A>G g.47607139A>G - - SYN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450T>G r.(?) p.(Asp150Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.450T>G r.(?) p.(Asp150Glu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.472A>C r.(?) p.(Asn158His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.472A>C r.(?) p.(Asn158His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.510T>C r.(?) p.(=) Maternal (inferred) - VUS g.47466361A>G g.47606962A>G - - SYN1_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.510T>C r.(?) p.(=) Maternal (inferred) - VUS g.47466361A>G g.47606962A>G - - SYN1_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 3 c.510T>C r.(?) p.(=) Parent #1 - likely benign g.47466361A>G g.47606962A>G N170N - SYN1_000004 recurrent, found 68 times PubMed: Tarpey 2009 - - Germline - 68/208 cases - 0 - DNA SEQ - - MRX;IDX 19377232-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 68 Lucy Raymond
-/. - c.510T>C r.(?) p.(Asn170=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - VUS 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - VUS 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - VUS 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - VUS 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580C>T r.(?) p.(Arg194Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581G>A r.(?) p.(Arg194His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.599G>A r.(?) p.(Ser200Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.684+60T>C r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.774+85del r.(=) p.(=) Maternal (inferred) - VUS g.47464292del g.47604893del - - SYN1_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.774+86del r.(=) p.(=) Maternal (inferred) - VUS g.47464291del g.47604892del - - SYN1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.774+86del r.(=) p.(=) Maternal (inferred) - VUS g.47464291del g.47604892del - - SYN1_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-9753C>T r.(=) p.(=) Maternal (inferred) - VUS g.47446653G>A g.47587254G>A - - SYN1_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-9619A>C r.(=) p.(=) Maternal (inferred) - VUS g.47446519T>G g.47587120T>G - - SYN1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-9619A>C r.(=) p.(=) Maternal (inferred) - VUS g.47446519T>G g.47587120T>G - - SYN1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.775-9177G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.775-9141C>T r.(=) p.(=) Parent #1 - VUS g.47446041G>A g.47586642G>A - - SYN1_000050 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.775-9141C>T r.(=) p.(=) Unknown - likely benign g.47446041G>A g.47586642G>A TIMP1(NM_003254.2):c.575G>A (p.(Arg192Gln)) - SYN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775-9140G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.775-9120C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.775-9078G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.775-9050G>C r.(=) p.(=) Unknown - likely benign g.47445950C>G - TIMP1(NM_003254.2):c.484C>G (p.L162V) - chrX_016329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.775-9040G>A r.(=) p.(=) Parent #1 - likely benign g.47445940C>T g.47586541C>T I158I - SYN1_000049 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.775-8397G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.775-8386T>C r.(=) p.(=) Maternal (inferred) - VUS g.47445286A>G g.47585887A>G - - TIMP1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-8386T>C r.(=) p.(=) Maternal (inferred) - VUS g.47445286A>G g.47585887A>G - - TIMP1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.775-8121G>C r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.775-8085A>G r.(=) p.(=) Maternal (inferred) - VUS g.47444985T>C g.47585586T>C - - TIMP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-8085A>G r.(=) p.(=) Maternal (inferred) - VUS g.47444985T>C g.47585586T>C - - TIMP1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.775-8085A>G r.(=) p.(=) Parent #1 - likely benign g.47444985T>C g.47585586T>C F124F - TIMP1_000002 recurrent, found 62 times PubMed: Tarpey 2009 - - Germline - 62/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 62 Lucy Raymond
-?/. - c.775-8023C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.775-7979C>G r.(=) p.(=) Maternal (inferred) - VUS g.47444879G>C g.47585480G>C - - TIMP1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-7979C>G r.(=) p.(=) Maternal (inferred) - VUS g.47444879G>C g.47585480G>C - - TIMP1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.775-7763G>A r.(=) p.(=) Parent #1 - likely benign g.47444663C>T g.47585264C>T P87P - SYN1_000048 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.775-7508C>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.775-7461G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.775-7461G>A r.(=) p.(=) Unknown - VUS 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.775-6211C>T r.(=) p.(=) Maternal (inferred) - VUS g.47443111G>A g.47583712G>A - - SYN1_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.775-6211C>T r.(=) p.(=) Maternal (inferred) - VUS g.47443111G>A g.47583712G>A - - TIMP1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.794C>T r.(?) p.(Pro265Leu) Unknown - VUS g.47436881G>A g.47577482G>A - - SYN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838-134G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.944G>A r.(?) p.(Arg315His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.980+14C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1055+12G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1056-14_1056-8del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063C>T r.(?) p.(Leu355=) Unknown - likely benign g.47435625G>A - SYN1(NM_006950.3):c.1063C>T (p.L355=) - SYN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 9 c.1107C>T r.(?) p.(=) Parent #1 - likely benign g.47435581G>A g.47576182G>A I369I - SYN1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377229-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1107C>T r.(?) p.(Ile369=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Ile369=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Ile369=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1264C>T r.(?) p.(Arg422Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1297C>T r.(?) p.(His433Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305+114C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 11 c.1422C>T r.(?) p.(=) Parent #1 - likely benign g.47433961G>A g.47574562G>A P474P - SYN1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377230-Pat? PubMed: Tarpey 2009 - - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1438C>T r.(?) p.(Pro480Ser) Unknown - likely benign g.47433945G>A g.47574546G>A - - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1473_1475del r.(?) p.(Gln491del) Unknown - VUS g.47433913_47433915del - SYN1(NM_006950.3):c.1473_1475delGCA (p.Q491del) - SYN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1615G>A r.(?) p.(Gly539Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1615G>A r.(?) p.(Gly539Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1629T>C r.(?) p.(Pro543=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1660C>T r.(?) p.(Pro554Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1699A>G r.(?) p.(Thr567Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1699A>G r.(?) p.(Thr567Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1699A>G r.(?) p.(Thr567Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1699A>G r.(?) p.(Thr567Ala) Parent #1 - VUS g.47433684T>C g.47574285T>C - - SYN1_000024 conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs200533370 Germline - 9/2764 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
-?/. - c.1699A>G r.(?) p.(Thr567Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1748G>C r.(?) p.(Gly583Ala) Unknown - likely benign g.47433635C>G - SYN1(NM_006950.3):c.1748G>C (p.G583A) - chrX_016328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1761C>T r.(?) p.(Arg587=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1938A>C r.(?) p.(Pro646=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1983-349T>C r.(=) p.(=) Maternal (inferred) - VUS g.47432747A>G g.47573348A>G - - SYN1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1996C>T r.(?) p.(Leu666=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*48C>A r.(=) p.(=) Unknown - benign g.47432215G>T g.47572816G>T SYN1(NM_006950.3):c.*48C>A - SYN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*111C>T r.(=) p.(=) Unknown - likely benign g.47432152G>A g.47572753G>A SYN1(NM_006950.3):c.*111C>T - SYN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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