All variants in the VSIG4 gene

Information The variants shown are described using the NM_007268.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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     
-?/. - c.94C>T r.(?) p.(Pro32Ser) - likely benign g.65253634G>A g.66033792G>A VSIG4(NM_001100431.1):c.94C>T (p.(Pro32Ser)), VSIG4(NM_001184830.1):c.94C>T (p.P32S) - VSIG4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.94C>T r.(?) p.(Pro32Ser) - likely benign g.65253634G>A g.66033792G>A VSIG4(NM_001100431.1):c.94C>T (p.(Pro32Ser)), VSIG4(NM_001184830.1):c.94C>T (p.P32S) - VSIG4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.274G>T r.(?) p.(Val92Phe) - likely benign g.65253454C>A g.66033612C>A VSIG4(NM_001100431.1):c.274G>T (p.(Val92Phe)) - VSIG4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.274G>T r.(?) p.(Val92Phe) - VUS g.65253454C>A g.66033612C>A - - VSIG4_000011 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. - c.312G>T r.(?) p.(Glu104Asp) - likely benign g.65253416C>A g.66033574C>A VSIG4(NM_001184830.1):c.312G>T (p.E104D) - VSIG4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.320A>T r.(?) p.(Asp107Val) - VUS g.65253408T>A g.66033566T>A VSIG4(NM_001184830.1):c.320A>T (p.D107V) - VSIG4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.323G>A r.(?) p.(Arg108Gln) - likely benign g.65253405C>T g.66033563C>T VSIG4(NM_001100431.1):c.323G>A (p.(Arg108Gln)) - VSIG4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.358C>T r.(?) p.(Pro120Ser) - VUS g.65253370G>A g.66033528G>A VSIG4(NM_001100431.1):c.358C>T (p.(Pro120Ser)) - VSIG4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.373G>T r.(?) p.(Val125Phe) - VUS g.65253355C>A g.66033513C>A VSIG4(NM_001100431.1):c.373G>T (p.(Val125Phe)) - VSIG4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.376G>A r.(?) p.(Val126Met) - VUS g.65253352C>T g.66033510C>T VSIG4(NM_001184830.1):c.376G>A (p.V126M) - VSIG4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.480G>T r.(?) p.(Arg160Ser) - VUS g.65252524C>A g.66032682C>A - - VSIG4_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.585C>T r.(?) p.(Thr195=) - likely benign g.65252419G>A - VSIG4(NM_001184830.1):c.585C>T (p.T195=) - VSIG4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.644G>A r.(?) p.(Gly215Asp) - VUS g.65252360C>T g.66032518C>T VSIG4(NM_001100431.1):c.412+956G>A (p.(=)), VSIG4(NM_001184830.1):c.644G>A (p.G215D) - VSIG4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.644G>A r.(?) p.(Gly215Asp) - VUS g.65252360C>T g.66032518C>T VSIG4(NM_001100431.1):c.412+956G>A (p.(=)), VSIG4(NM_001184830.1):c.644G>A (p.G215D) - VSIG4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.669C>A r.(?) p.(Ser223Arg) - VUS g.65252335G>T - VSIG4(NM_001184830.1):c.669C>A (p.S223R) - VSIG4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.697T>A r.(?) p.(Ser233Thr) - likely benign g.65247952A>T g.66028110A>T VSIG4(NM_001100431.1):c.415T>A (p.(Ser139Thr)), VSIG4(NM_001184830.1):c.697T>A (p.S233T) - VSIG4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.697T>A r.(?) p.(Ser233Thr) - VUS g.65247952A>T g.66028110A>T VSIG4(NM_001100431.1):c.415T>A (p.(Ser139Thr)), VSIG4(NM_001184830.1):c.697T>A (p.S233T) - VSIG4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.785A>T r.(?) p.(Asp262Val) - likely benign g.65247341T>A - VSIG4(NM_001184830.1):c.785A>T (p.D262V) - VSIG4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.793A>T r.(?) p.(Thr265Ser) - likely benign g.65247333T>A g.66027491T>A VSIG4(NM_001184830.1):c.793A>T (p.T265S) - VSIG4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.815G>A r.(?) p.(Gly272Glu) - likely benign g.65247311C>T g.66027469C>T VSIG4(NM_001100431.1):c.533G>A (p.(Gly178Glu)) - VSIG4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.836G>A r.(?) p.(Gly279Glu) - VUS g.65244971C>T g.66025129C>T - - VSIG4_000013 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
-?/. - c.908A>G r.(?) p.(Tyr303Cys) - likely benign g.65244899T>C g.66025057T>C VSIG4(NM_001100431.1):c.626A>G (p.(Tyr209Cys)) - VSIG4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.963-1G>A r.spl? p.? - VUS g.65242343C>T g.66022501C>T VSIG4(NM_001100431.1):c.681-1G>A (p.?) - VSIG4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.973A>T r.(?) p.(Arg325*) - VUS g.65242332T>A g.66022490T>A - - VSIG4_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.973A>T r.(?) p.(Arg325*) - likely benign g.65242332T>A - VSIG4(NM_007268.2):c.973A>T (p.R325*) - VSIG4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1033A>T r.(?) p.(Ser345Cys) - VUS g.65242272T>A g.66022430T>A VSIG4(NM_001100431.1):c.751A>T (p.(Ser251Cys)) - VSIG4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1086C>T r.(?) p.(Cys362=) - likely benign g.65242219G>A - VSIG4(NM_007268.2):c.1086C>T (p.C362=) - VSIG4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1148C>T r.(?) p.(Thr383Ile) - likely benign g.65242157G>A g.66022315G>A VSIG4(NM_001100431.1):c.866C>T (p.(Thr289Ile)) - VSIG4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1148C>T r.(?) p.(Thr383Ile) - VUS g.65242157G>A g.66022315G>A - - VSIG4_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.*98C>T r.(=) p.(=) - likely benign g.65242007G>A - VSIG4(NM_001257403.1):c.964C>T (p.P322S) - VSIG4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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