All variants in the SEC23B gene

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_032985.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.63G>A r.(?) p.(Trp21Ter) - pathogenic g.18491542G>A g.18510898G>A - - SEC23B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.67G>T r.(?) p.(Val23Leu) - likely benign g.18491546G>T g.18510902G>T SEC23B(NM_001172745.1):c.67G>T (p.(Val23Leu)) - SEC23B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.74C>A r.(?) p.(Pro25His) - VUS g.18491553C>A g.18510909C>A - - SEC23B_000015 10 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6045440 Germline - 10/2792 individuals - 0 - Mohammed Faruq
?/. - c.74C>A r.(?) p.(Pro25His) - VUS g.18491553C>A g.18510909C>A SEC23B(NM_001172745.1):c.74C>A (p.(Pro25His)) - SEC23B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.74C>A r.(?) p.(Pro25His) - VUS g.18491553C>A g.18510909C>A - - SEC23B_000015 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6045440 Germline - 2/2792 individuals - 0 - Mohammed Faruq
-?/. - c.74C>A r.(?) p.(Pro25His) - likely benign g.18491553C>A g.18510909C>A - - SEC23B_000015 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - 0 - Global Variome, with Curator vacancy
+/. - c.325G>A r.(?) p.(Glu109Lys) - pathogenic g.18496339G>A g.18515695G>A - - SEC23B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.490G>T r.(?) p.(Val164Leu) - likely benign g.18505200G>T g.18524556G>T - - SEC23B_000008 139 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36023150 Germline - 139/2795 individuals - 0 - Mohammed Faruq
-?/. - c.490G>T r.(?) p.(Val164Leu) - likely benign g.18505200G>T g.18524556G>T - - SEC23B_000008 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36023150 Germline - 2/2795 individuals - 0 - Mohammed Faruq
?/. - c.490G>T r.(?) p.(Val164Leu) - VUS g.18505200G>T - - - SEC23B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.519G>A r.(?) p.(Val173=) - likely benign g.18505229G>A - SEC23B(NM_032985.5):c.519G>A (p.V173=) - SEC23B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.568C>T r.(?) p.(Arg190*) - pathogenic g.18505278C>T - SEC23B(NM_032985.5):c.568C>T (p.R190*) - SEC23B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.649C>T r.(?) p.(Arg217Ter) - VUS g.18505624C>T g.18524980C>T - - SEC23B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.770C>T r.(?) p.(Thr257Ile) - likely benign g.18506512C>T g.18525868C>T SEC23B(NM_001172745.1):c.770C>T (p.(Thr257Ile)) - SEC23B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.990C>T r.(?) p.(Thr330=) - likely benign g.18507172C>T g.18526528C>T SEC23B(NM_001172745.1):c.990C>T (p.(=)) - SEC23B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1233+9A>G r.(=) p.(=) - benign g.18511456A>G g.18530812A>G SEC23B(NM_032985.6):c.1233+9A>G - SEC23B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1233+9A>G r.(=) p.(=) - benign g.18511456A>G g.18530812A>G SEC23B(NM_032985.6):c.1233+9A>G - SEC23B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1233+25dup r.(=) p.(=) - benign g.18511472dup - SEC23B(NM_001172745.1):c.1233+12dup (p.(=)) - SEC23B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1276G>A r.(?) p.(Val426Ile) - benign g.18513350G>A g.18532706G>A SEC23B(NM_001172745.1):c.1276G>A (p.(Val426Ile)) - SEC23B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1276G>A r.(?) p.(Val426Ile) - likely benign g.18513350G>A g.18532706G>A SEC23B(NM_001172745.1):c.1276G>A (p.(Val426Ile)) - SEC23B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1276G>A r.(?) p.(Val426Ile) - likely benign g.18513350G>A g.18532706G>A - - SEC23B_000011 73 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41309927 Germline - 73/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1276G>A r.(?) p.(Val426Ile) - likely benign g.18513350G>A g.18532706G>A - - SEC23B_000011 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41309927 Germline - 3/2795 individuals - 0 - Mohammed Faruq
-/. - c.1298C>T r.(?) p.(Pro433Leu) - benign g.18513372C>T g.18532728C>T - - SEC23B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1385A>G r.(?) p.(Tyr462Cys) - likely pathogenic g.18516367A>G g.18535723A>G - - SEC23B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1405-7C>T r.(=) p.(=) - likely benign g.18522933C>T - - - SEC23B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1467C>G r.(?) p.(His489Gln) - likely benign g.18523002C>G g.18542358C>G - - SEC23B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1484G>A r.(?) p.(Arg495His) - benign g.18523019G>A g.18542375G>A - - SEC23B_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141588462 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1512T>C r.(?) p.(Asn504=) - likely benign g.18523663T>C - SEC23B(NM_032985.5):c.1512T>C (p.N504=) - SEC23B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1527G>A r.(?) p.(Gln509=) - VUS g.18523678G>A - - - SEC23B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1648C>T r.(?) p.(Arg550*) - pathogenic g.18523799C>T - SEC23B(NM_032985.5):c.1648C>T (p.R550*) - SEC23B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1649G>A r.(?) p.(Arg550Gln) - likely benign g.18523800G>A g.18543156G>A - - SEC23B_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111572459 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.1744-20T>A r.(=) p.(=) - benign g.18529233T>A g.18548589T>A SEC23B(NM_032985.6):c.1744-20T>A - SEC23B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1744-20T>A r.(=) p.(=) - benign g.18529233T>A g.18548589T>A SEC23B(NM_032985.6):c.1744-20T>A - SEC23B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2061G>T r.(?) p.(Leu687=) - benign g.18534947G>T - SEC23B(NM_001172745.1):c.2061G>T (p.(=)) - SEC23B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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