Full data view for gene SYP

Information The variants shown are described using the NM_003179.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-4966G>A r.(?) p.(=) Unknown - VUS g.49061611C>T - CACNA1F(NM_001256789.3):c.5887G>A (p.(Val1963Ile)) - CACNA1F_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5T>A r.(?) p.(Leu2Gln) Unknown - VUS g.49056641A>T - SYP(NM_003179.2):c.5T>A (p.L2Q) - CACNA1F_000472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.103-42C>A r.(=) p.(=) Unknown - benign g.49054340G>T g.49197881G>T SYP(NM_003179.2):c.103-42C>A - SYP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103-4C>T r.spl? p.? Unknown - likely benign g.49054302G>A - SYP(NM_003179.2):c.103-4C>T - SYP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124G>T r.(?) p.(Ala42Ser) Unknown - VUS g.49054277C>A - SYP(NM_003179.3):c.124G>T (p.A42S) - SYP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>A r.(?) p.(Gly45Ser) Unknown - VUS g.49054268C>T g.49197809C>T SYP(NM_003179.3):c.133G>A (p.G45S) - SYP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>G r.(?) p.(Thr86=) Unknown - likely benign g.49050788G>C g.49194331G>C SYP(NM_003179.2):c.258C>G (p.T86=) - SYP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.262C>T r.(?) p.(Arg88*) Unknown - likely pathogenic g.49050784G>A - - - SYP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274dup r.(?) p.(Thr92Asnfs*45) Parent #1 - VUS g.49050772dup g.49194315dup 274dupA - SYP_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.312C>T r.(?) p.(Ala104=) Unknown - likely benign g.49050734G>A g.49194277G>A SYP(NM_003179.2):c.312C>T (p.A104=) - SYP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367G>A r.(?) p.(Ala123Thr) Unknown - VUS g.49050679C>T - SYP(NM_003179.3):c.367G>A (p.A123T) - SYP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.456G>A r.(?) p.(Met152Ile) Unknown - VUS g.49049888C>T g.49193431C>T - - SYP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.583_584del r.(?) p.(Asp195Profs*29) Maternal (confirmed) ACMG likely pathogenic g.49049764_49049765del g.49193307_49193308del - - SYP_000031 - - ClinVar-3393445 - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-/. - c.593C>T r.(?) p.(Thr198Ile) Unknown - benign g.49049751G>A g.49193294G>A SYP(NM_003179.2):c.593C>T (p.T198I), SYP(NM_003179.3):c.593C>T (p.T198I) - SYP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593C>T r.(?) p.(Thr198Ile) Unknown - likely benign g.49049751G>A g.49193294G>A SYP(NM_003179.2):c.593C>T (p.T198I), SYP(NM_003179.3):c.593C>T (p.T198I) - SYP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593C>T r.(?) p.(Thr198Ile) Unknown - VUS g.49049751G>A g.49193294G>A SYP(NM_003179.2):c.593C>T (p.T198I), SYP(NM_003179.3):c.593C>T (p.T198I) - SYP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Gly208=) Unknown - likely benign g.49048212G>A - SYP(NM_003179.2):c.624C>T (p.G208=) - SYP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.684G>A r.(?) p.(Trp228Ter) Unknown - likely pathogenic g.49048152C>T - - - SYP_000025 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.762_782del r.(?) p.(Gln257_Gly263del) Unknown - VUS g.49048056_49048076del - SYP(NM_003179.3):c.762_782delCTACGGGCAGGGCCCCGGCGG (p.Q257_G263del) - SYP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787G>A r.(?) p.(Gly263Arg) Unknown - VUS g.49048049C>T g.49191592C>T SYP(NM_003179.2):c.787G>A (p.G263R) - SYP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819C>T r.(?) p.(Gly273=) Unknown - likely benign g.49048017G>A g.49191560G>A SYP(NM_003179.2):c.819C>T (p.G273=) - SYP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.831C>A r.(?) p.(Asp277Glu) Unknown - VUS g.49048005G>T - SYP(NM_003179.2):c.831C>A (p.D277E) - SYP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>T r.(?) p.(Ala282Ser) Unknown - VUS g.49047992C>A g.49191535C>A SYP(NM_003179.2):c.844G>T (p.A282S, p.(Ala282Ser)) - SYP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844G>T r.(?) p.(Ala282Ser) Unknown - likely benign g.49047992C>A - SYP(NM_003179.2):c.844G>T (p.A282S, p.(Ala282Ser)) - SYP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.868G>T r.(?) p.(Gly290Trp) Unknown - VUS g.49047968C>A g.49191511C>A SYP(NM_003179.2):c.868G>T (p.(Gly290Trp)) - SYP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.877G>A r.(?) p.(Gly293Ser) Unknown - likely benign g.49047959C>T g.49191502C>T SYP(NM_003179.2):c.877G>A (p.G293S, p.(Gly293Ser)) - SYP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.877G>A r.(?) p.(Gly293Ser) Unknown - likely benign g.49047959C>T g.49191502C>T SYP(NM_003179.2):c.877G>A (p.G293S, p.(Gly293Ser)) - SYP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.877G>A r.(?) p.(Gly293Ser) Unknown - likely benign g.49047959C>T g.49191502C>T SYP(NM_003179.2):c.877G>A (p.G293S, p.(Gly293Ser)) - SYP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.877G>A r.(?) p.(Gly293Ser) Maternal (confirmed) - pathogenic (recessive) g.49047959C>T - - - SYP_000009 - PubMed: Philips 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - X-WES ID FamD175 PubMed: Philips 2014 4-generation family, 9 affected (9M), unaffected heterozygous carrierfemales M - Finland - - - - - 9 Johan den Dunnen
?/. - c.*4+271A>G r.(=) p.(=) Maternal (inferred) - VUS g.49047619T>C g.49191162= - - SYP_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*4+271A>G r.(=) p.(=) Maternal (inferred) - VUS g.49047619T>C g.49191162= - - SYP_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*4+565T>C r.(=) p.(=) Maternal (inferred) - VUS g.49047325A>G g.49190868= - - SYP_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*4+565T>C r.(=) p.(=) Maternal (inferred) - VUS g.49047325A>G g.49190868= - - SYP_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*4+938_*4+942del r.(=) p.(=) Maternal (inferred) - VUS g.49046950_49046954del g.49190493_49190497del - - SYP_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.*4671C>T r.(=) p.(=) Unknown - likely benign g.49041069G>A - PRICKLE3(NM_006150.5):c.128+9C>T - SYP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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