Unique variants in the SYT2 gene

Information The variants shown are described using the NM_177402.4 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.117C>T r.(?) p.(Ser39=) - benign g.202574784G>A g.202605656G>A SYT2(NM_001136504.1):c.117C>T (p.S39=) - SYT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.179-17C>A r.(=) p.(=) - benign g.202573766G>T g.202604638G>T SYT2(NM_001136504.1):c.179-17C>A - SYT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.465+20_465+21del r.(=) p.(=) - benign g.202572111_202572112del g.202602983_202602984del SYT2(NM_001136504.1):c.465+20_465+21delGG - SYT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.519C>T r.(?) p.(Gly173=) - benign g.202571620G>A g.202602492G>A SYT2(NM_001136504.1):c.519C>T (p.G173=) - SYT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.804G>A r.(?) p.(Pro268=) - benign g.202569600C>T g.202600472C>T SYT2(NM_001136504.1):c.804G>A (p.P268=) - SYT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.805G>T r.(?) p.(Glu269Ter) - VUS g.202569599C>A g.202600471C>A - - SYT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.848C>G r.(?) p.(Thr283Arg) - VUS g.202569556G>C g.202600428G>C - - SYT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.848C>T r.(?) p.(Thr283Met) - VUS g.202569556G>A - SYT2(NM_001136504.1):c.848C>T (p.T283M) - SYT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.920-5C>T r.spl? p.? - benign g.202568484G>A g.202599356G>A SYT2(NM_001136504.1):c.920-5C>T - SYT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.974A>C r.(?) p.(Lys325Thr) - VUS g.202568425T>G g.202599297T>G - - SYT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1197C>T r.(?) p.(Ile399=) - benign g.202565948G>A g.202596820G>A SYT2(NM_001136504.1):c.1197C>T (p.I399=) - SYT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*17C>T r.(=) p.(=) - likely benign g.202565868G>A g.202596740G>A SYT2(NM_001136504.1):c.*17C>T - SYT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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