Full data view for gene SEC23A

Information The variants shown are described using the NM_006364.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.40C>T r.(?) p.(Arg14*) Unknown - VUS g.39565283G>A - SEC23A(NM_006364.4):c.40C>T (p.(Arg14*)) - SEC23A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178C>G r.(?) p.(Leu60Val) Unknown - likely benign g.39565145G>C - SEC23A(NM_006364.4):c.178C>G (p.(Leu60Val)) - SEC23A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200G>T r.(?) p.(Arg67Leu) Unknown - VUS g.39565123C>A g.39095919C>A SEC23A(NM_006364.3):c.200G>T (p.R67L) - SEC23A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233A>G r.(?) p.(Tyr78Cys) Unknown - VUS g.39562437T>C - SEC23A(NM_006364.4):c.233A>G (p.(Tyr78Cys)) - SEC23A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.631C>G r.(?) p.(Leu211Val) Unknown - benign g.39556185G>C g.39086981G>C SEC23A(NM_006364.4):c.631C>G (p.L211V) - SEC23A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710A>C r.(?) p.(Asp237Ala) Parent #1 ACMG VUS g.39555084T>G g.39085880T>G - - SEC23A_000025 ACMG PM2_sup, PP3, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat70 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
?/. - c.809T>C r.(?) p.(Ile270Thr) Unknown - VUS g.39554985A>G - SEC23A(NM_006364.4):c.809T>C (p.(Ile270Thr)) - SEC23A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>A r.(?) p.(Val272Ile) Unknown - VUS g.39554980C>T - SEC23A(NM_006364.4):c.814G>A (p.(Val272Ile)) - SEC23A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1086C>G r.(?) p.(Cys362Trp) Unknown - VUS g.39543636G>C - SEC23A(NM_006364.2):c.1086C>G (p.(Cys362Trp)) - SEC23A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1092C>T r.(?) p.(Pro364=) Unknown - benign g.39543630G>A g.39074426G>A SEC23A(NM_006364.3):c.1092C>T (p.P364=) - SEC23A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 10 c.1200G>C r.(?) p.(Met400Ile) Both (homozygous) - likely pathogenic g.39536404C>G g.39067200C>G - - SEC23A_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG Skin Fibroblasts - ID - - family, 2 affected brothers M yes Palestine Palestinian - - - - 2 Swati Gupta
-?/. - c.1222A>G r.(?) p.(Ile408Val) Unknown - likely benign g.39536382T>C g.39067178T>C SEC23A(NM_006364.3):c.1222A>G (p.I408V) - SEC23A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1228-7T>A r.(=) p.(=) Unknown - likely benign g.39534204A>T - SEC23A(NM_006364.4):c.1228-7T>A - SEC23A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432G>T r.(?) p.(Ala478Ser) Unknown - likely benign g.39531042C>A - SEC23A(NM_006364.2):c.1432G>T (p.(Ala478Ser)) - SEC23A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477C>T r.(?) p.(Arg493Cys) Unknown - VUS g.39530997G>A - SEC23A(NM_006364.3):c.1477C>T (p.R493C) - SEC23A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1480A>G r.(?) p.(Ile494Val) Unknown - VUS g.39530994T>C - SEC23A(NM_006364.4):c.1480A>G (p.(Ile494Val)) - SEC23A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1501A>G r.(?) p.(Arg501Gly) Unknown - VUS g.39530973T>C - SEC23A(NM_006364.3):c.1501A>G (p.R501G) - SEC23A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1672G>A r.(?) p.(Gly558Arg) Unknown - VUS g.39517921C>T g.39048717C>T SEC23A(NM_006364.2):c.1672G>A (p.(Gly558Arg)) - SEC23A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1825C>T r.(?) p.(Arg609Cys) Unknown - VUS g.39514441G>A g.39045237G>A SEC23A(NM_006364.3):c.1825C>T (p.R609C) - SEC23A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1902G>A r.(?) p.(=) Unknown - VUS g.39512074C>T - SEC23A(NM_006364.4):c.1902G>A (p.(Pro634=)) - SEC23A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1946T>C r.(?) p.(Leu649Pro) Parent #2 ACMG VUS g.39512030A>G g.39042826A>G - - SEC23A_000024 ACMG PM2_sup, PP3, PP4 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat70 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
?/. - c.2053C>A r.(?) p.(Leu685Met) Unknown - VUS g.39510025G>T - SEC23A(NM_006364.4):c.2053C>A (p.(Leu685Met)) - SEC23A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2104A>G r.(?) p.(Met702Val) Unknown - VUS g.39509974T>C - SEC23A(NM_006364.2):c.2104A>G (p.(Met702Val)) - SEC23A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2146C>T r.(?) p.(Arg716Cys) Unknown - VUS g.39508297G>A g.39039093G>A SEC23A(NM_006364.2):c.2146C>T (p.(Arg716Cys)) - SEC23A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2209-8dup r.(=) p.(=) Unknown - benign g.39502545dup g.39033341dup SEC23A(NM_006364.4):c.2209-8dupT - SEC23A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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