Full data view for gene SEC16A

Information The variants shown are described using the NM_014866.1 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.128C>T r.(?) p.(Pro43Leu) Unknown - VUS g.139371940G>A g.136477488G>A SEC16A(NM_014866.1):c.128C>T (p.P43L) - C9orf163_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Pro47Leu) Unknown - VUS g.139371928G>A - SEC16A(NM_014866.1):c.140C>T (p.P47L) - C9orf163_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183G>A r.(?) p.(Ala61=) Unknown - likely benign g.139371885C>T g.136477433C>T SEC16A(NM_014866.1):c.183G>A (p.A61=) - C9orf163_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1298A>G r.(?) p.(Asn433Ser) Unknown - likely benign g.139370770T>C - SEC16A(NM_014866.1):c.1298A>G (p.(Asn433Ser)) - C9orf163_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2036T>C r.(?) p.(Leu679Pro) Unknown - VUS g.139370032A>G g.136475580A>G SEC16A(NM_014866.1):c.2036T>C (p.L679P) - SEC16A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2084C>T r.(?) p.(Pro695Leu) Unknown - VUS g.139369984G>A g.136475532G>A SEC16A(NM_014866.1):c.2084C>T (p.P695L) - SEC16A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2317C>T r.(?) p.(Pro773Ser) Unknown - likely benign g.139369751G>A g.136475299G>A SEC16A(NM_014866.1):c.2317C>T (p.P773S) - C9orf163_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2649T>C r.(?) p.(Thr883=) Unknown - likely benign g.139369419A>G g.136474967A>G SEC16A(NM_014866.1):c.2649T>C (p.T883=) - C9orf163_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2977G>A r.(?) p.(Ala993Thr) Unknown - likely benign g.139369091C>T g.136474639C>T SEC16A(NM_001276418.1):c.2977G>A (p.(Ala993Thr)) - C9orf163_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3032C>T r.(?) p.(Pro1011Leu) Unknown - VUS g.139369036G>A g.136474584G>A SEC16A(NM_014866.1):c.3032C>T (p.P1011L) - C9orf163_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4125C>A r.(?) p.(His1375Gln) Unknown - likely benign g.139360719G>T g.136466267G>T SEC16A(NM_001276418.1):c.4125C>A (p.(His1375Gln)) - C9orf163_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4726G>T r.(?) p.(Glu1576Ter) Unknown - VUS g.139357506C>A g.136463054C>A SEC16A(NM_014866.1):c.4726G>T (p.E1576*) - C9orf163_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5072C>T r.(?) p.(Thr1691Met) Unknown - VUS g.139354495G>A - SEC16A(NM_014866.1):c.5072C>T (p.T1691M) - C9orf163_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5476T>C r.(?) p.(Cys1826Arg) Unknown - VUS g.139351970A>G - SEC16A(NM_014866.1):c.5476T>C (p.(Cys1826Arg)) - C9orf163_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5839G>A r.(?) p.(Val1947Met) Unknown - VUS g.139350071C>T g.136455619C>T SEC16A(NM_014866.1):c.5839G>A (p.V1947M) - SEC16A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6086C>T r.(?) p.(Pro2029Leu) Unknown - likely benign g.139347953G>A - SEC16A(NM_014866.1):c.6086C>T (p.(Pro2029Leu)) - C9orf163_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6087G>A r.(?) p.(Pro2029=) Unknown - likely benign g.139347952C>T g.136453500C>T SEC16A(NM_014866.1):c.6087G>A (p.P2029=) - C9orf163_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6476C>T r.(?) p.(Ser2159Leu) Both (homozygous) - VUS g.139342104G>A g.136447652G>A - - SEC16A_000004 - PubMed: Morimoto 2018, Journal: Morimoto 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 30401460-Fam2 PubMed: Morimoto 2018, Journal: Morimoto 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.6533C>T r.(?) p.(Pro2178Leu) Unknown - likely benign g.139342047G>A g.136447595G>A SEC16A(NM_001276418.1):c.6533C>T (p.(Pro2178Leu)) - C9orf163_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6553A>G r.(?) p.(Arg2185Gly) Unknown - VUS g.139342027T>C - SEC16A(NM_014866.1):c.6553A>G (p.(Arg2185Gly)) - C9orf163_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2368C>G r.(=) p.(=) Unknown - benign g.139333839G>C g.136439387G>C INPP5E(NM_019892.5):c.33C>G (p.S11=), INPP5E(NM_019892.6):c.33C>G (p.S11=) - INPP5E_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2368C>G r.(=) p.(=) Unknown - benign g.139333839G>C g.136439387G>C INPP5E(NM_019892.5):c.33C>G (p.S11=), INPP5E(NM_019892.6):c.33C>G (p.S11=) - INPP5E_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2455C>T r.(=) p.(=) Unknown - benign g.139333752G>A g.136439300G>A INPP5E(NM_019892.6):c.120C>T (p.P40=) - INPP5E_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2561dup r.(?) p.(=) Unknown - pathogenic g.139333646dup g.136439194dup INPP5E(NM_019892.5):c.226dupG (p.A76Gfs*75) - C9orf163_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2579C>T r.(=) p.(=) Unknown - likely pathogenic g.139333628G>A - INPP5E(NM_019892.5):c.244C>T (p.R82*) - C9orf163_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2639G>T r.(=) p.(=) Unknown - likely benign g.139333568C>A - INPP5E(NM_019892.5):c.304G>T (p.D102Y), INPP5E(NM_019892.6):c.304G>T (p.D102Y) - C9orf163_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2639G>T r.(=) p.(=) Unknown - likely benign g.139333568C>A - INPP5E(NM_019892.5):c.304G>T (p.D102Y), INPP5E(NM_019892.6):c.304G>T (p.D102Y) - C9orf163_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2734G>C r.(=) p.(=) Unknown - likely benign g.139333473C>G g.136439021C>G INPP5E(NM_019892.5):c.399G>C (p.L133=) - C9orf163_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2766G>A r.(=) p.(=) Unknown - VUS g.139333441C>T g.136438989C>T INPP5E(NM_019892.5):c.431G>A (p.R144H) - C9orf163_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2804G>T r.(=) p.(=) Unknown - VUS g.139333403C>A - INPP5E(NM_019892.5):c.469G>T (p.G157W) - C9orf163_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2866C>A r.(=) p.(=) Unknown - likely benign g.139333341G>T - INPP5E(NM_019892.6):c.531C>A (p.A177=) - C9orf163_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2907C>G r.(=) p.(=) Unknown - benign g.139333300G>C g.136438848G>C INPP5E(NM_019892.6):c.572C>G (p.P191R) - INPP5E_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2921G>T r.(=) p.(=) Unknown - likely benign g.139333286C>A g.136438834C>A INPP5E(NM_019892.5):c.586G>T (p.A196S) - C9orf163_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2938C>G r.(=) p.(=) Unknown - benign g.139333269G>C g.136438817G>C INPP5E(NM_019892.5):c.603C>G (p.I201M), INPP5E(NM_019892.6):c.603C>G (p.I201M) - INPP5E_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2938C>G r.(=) p.(=) Unknown - likely benign g.139333269G>C g.136438817G>C INPP5E(NM_019892.5):c.603C>G (p.I201M), INPP5E(NM_019892.6):c.603C>G (p.I201M) - INPP5E_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2958C>T r.(=) p.(=) Unknown - likely benign g.139333249G>A g.136438797G>A INPP5E(NM_019892.5):c.623C>T (p.T208I), INPP5E(NM_019892.6):c.623C>T (p.T208I) - C9orf163_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2958C>T r.(=) p.(=) Unknown - likely benign g.139333249G>A - INPP5E(NM_019892.5):c.623C>T (p.T208I), INPP5E(NM_019892.6):c.623C>T (p.T208I) - C9orf163_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2971C>A r.(=) p.(=) Unknown - benign g.139333236G>T - INPP5E(NM_019892.6):c.636C>A (p.V212=) - C9orf163_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2976C>A r.(=) p.(=) Unknown - pathogenic g.139333231G>T - INPP5E(NM_019892.5):c.641C>A (p.S214*) - C9orf163_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2988A>C r.(=) p.(=) Unknown - VUS g.139333219T>G - INPP5E(NM_019892.6):c.653A>C (p.(Asp218Ala)) - C9orf163_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3126G>A r.(=) p.(=) Unknown - likely benign g.139333081C>T - INPP5E(NM_019892.6):c.791G>A (p.R264H) - C9orf163_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3132_*3146del r.(=) p.(=) Unknown - VUS g.139333070_139333084del - INPP5E(NM_019892.4):c.797_811delAGGACGTCCGCAGCA (p.(Lys266_Ser270del)) - C9orf163_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3154_*3157del r.(=) p.(=) Unknown - benign g.139333054_139333057del g.136438602_136438605del INPP5E(NM_019892.5):c.812+7_812+10delAGGG, INPP5E(NM_019892.6):c.812+7_812+10delAGGG - INPP5E_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3154_*3157del r.(=) p.(=) Unknown - benign g.139333054_139333057del g.136438602_136438605del INPP5E(NM_019892.5):c.812+7_812+10delAGGG, INPP5E(NM_019892.6):c.812+7_812+10delAGGG - INPP5E_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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