Unique variants in the SYTL5 gene

Information The variants shown are described using the NM_138780.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-357+1G>A r.spl? p.? - likely benign g.37865922G>A g.38006669G>A SYTL5(NM_001163335.1):c.-448+1G>A (p.(=)) - SYTL5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.226G>A r.(?) p.(Asp76Asn) - likely benign g.37913572G>A g.38054319G>A SYTL5(NM_001163334.1):c.226G>A (p.(Asp76Asn)), SYTL5(NM_001163335.1):c.226G>A (p.D76N) - SYTL5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.286G>T r.(?) p.(Gly96Cys) - likely benign g.37913632G>T g.38054379G>T SYTL5(NM_001163335.1):c.286G>T (p.G96C) - SYTL5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.295G>C r.(?) p.(Gly99Arg) - likely benign g.37913641G>C g.38054388G>C SYTL5(NM_001163335.1):c.295G>C (p.G99R) - SYTL5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.329+184_329+185del r.(=) p.(=) - VUS g.37913859_37913860del g.38054606_38054607del - - SYTL5_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.329+222_329+223del r.(=) p.(=) - VUS g.37913897_37913898del g.38054644_38054645del - - SYTL5_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.463A>G r.(?) p.(Ser155Gly) - likely benign g.37932860A>G g.38073607A>G SYTL5(NM_001163335.1):c.463A>G (p.S155G) - SYTL5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.489A>G r.(=) p.(=) - likely benign g.37932886A>G g.38073633A>G A163A - SYTL5_000011 recurrent, found 49 times PubMed: Tarpey 2009 - - Germline - 49/208 cases - - - Lucy Raymond
-?/. 1 - c.579G>A r.(=) p.(=) - likely benign g.37935844G>A g.38076591G>A S193S - SYTL5_000012 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 1 - c.823A>G r.(?) p.(Ile275Val) - VUS g.37948832A>G g.38089579A>G - - SYTL5_000013 recurrent, found 21 times PubMed: Tarpey 2009 - - Germline - 21/208 cases - - - Lucy Raymond
-?/. 1 - c.832G>A r.(?) p.(Glu278Lys) - likely benign g.37953548G>A - SYTL5(NM_001163335.1):c.832G>A (p.E278K) - SYTL5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.904C>T r.(?) p.(Arg302Cys) - VUS g.37953620C>T g.38094367C>T - - SYTL5_000014 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Lucy Raymond
-?/. 1 - c.978G>A r.(=) p.(=) - likely benign g.37955403G>A g.38096150G>A E326E - SYTL5_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1105T>C r.(?) p.(Ser369Pro) - VUS g.37961637T>C g.38102384T>C - - SYTL5_000016 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. 1 - c.1155+628C>T r.(=) p.(=) - VUS g.37962315C>T g.38103062C>T SYTL5(NM_001163334.1):c.1192C>T (p.(=)) - SYTL5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1210G>A r.(?) p.(Val404Met) - VUS g.37965900G>A g.38106647G>A SYTL5(NM_001163335.1):c.1210G>A (p.V404M) - SYTL5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1292G>A r.(?) p.(Arg431Lys) - likely benign g.37965982G>A g.38106729G>A SYTL5(NM_001163335.1):c.1292G>A (p.R431K) - SYTL5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1334C>T r.(?) p.(Ala445Val) - likely benign, VUS g.37966024C>T g.38106771C>T SYTL5(NM_001163334.1):c.1400C>T (p.(Ala467Val)) - SYTL5_000007 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.1350T>C r.(=) p.(=) - likely benign g.37967868T>C g.38108615T>C Y450Y - SYTL5_000017 recurrent, found 52 times PubMed: Tarpey 2009 - - Germline - 52/208 cases - - - Lucy Raymond
?/. 1 - c.1381C>T r.(?) p.(Arg461Cys) - VUS g.37967899C>T g.38108646C>T SYTL5(NM_001163334.1):c.1447C>T (p.(Arg483Cys)) - SYTL5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1633G>T r.(?) p.(Gly545*) - VUS g.37979647G>T g.38120394G>T - - SYTL5_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1684C>T r.(?) p.(Leu562Phe) - likely benign g.37979698C>T - SYTL5(NM_001163335.1):c.1684C>T (p.L562F) - SYTL5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2105G>A r.(?) p.(Arg702His) - likely benign, VUS g.37985895G>A g.38126642G>A SYTL5(NM_001163334.1):c.2171G>A (p.(Arg724His)), SYTL5(NM_001163335.1):c.2105G>A (p.R702H) - SYTL5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2159T>C r.(?) p.(Met720Thr) - VUS g.37985949T>C - SYTL5(NM_001163335.1):c.2159T>C (p.M720T) - SYTL5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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