Unique variants in the NUP107 gene

Information The variants shown are described using the NM_020401.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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.160C>T r.(?) p.(Arg54Ter) - VUS g.69083372C>T g.68689592C>T NUP107(NM_020401.2):c.160C>T (p.(Arg54Ter)) - NUP107_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +?/. 2 - c.303G>A r.(?) p.(Met101Ile) - likely pathogenic (recessive), pathogenic g.69084526G>A g.68690746G>A - - NUP107_000004 - PubMed: Alazami 2015, Journal: Alazami 2015, PubMed: Anazi 2017 - - Germline yes - - - - Johan den Dunnen
-?/. 2 - c.353G>A r.(?) p.(Arg118His) - likely benign g.69085797G>A g.68692017G>A NUP107(NM_001330192.1):c.266G>A (p.R89H), NUP107(NM_001330192.2):c.266G>A (p.R89H) - NUP107_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.449-7G>T r.(=) p.(=) - likely benign g.69090592G>T g.68696812G>T NUP107(NM_020401.2):c.449-7G>T (p.(=)) - NUP107_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.449-4C>T r.spl? p.? - likely benign g.69090595C>T g.68696815C>T NUP107(NM_001330192.1):c.362-4C>T, NUP107(NM_020401.2):c.449-4C>T (p.?) - NUP107_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.681-12A>G r.(=) p.(=) - likely benign g.69096504A>G - NUP107(NM_020401.4):c.681-12A>G - NUP107_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.751A>T r.(?) p.(Thr251Ser) - likely benign g.69103039A>T - NUP107(NM_001330192.1):c.664A>T (p.T222S), NUP107(NM_001330192.2):c.664A>T (p.T222S) - NUP107_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.802-8T>C r.(=) p.(=) - likely benign g.69103777T>C g.68709997T>C NUP107(NM_020401.2):c.802-8T>C (p.(=)) - NUP107_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1192G>A r.(?) p.(Val398Ile) - VUS g.69113375G>A g.68719595G>A NUP107(NM_001330192.1):c.1105G>A (p.V369I) - NUP107_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1535A>G r.(?) p.(Tyr512Cys) - VUS g.69119535A>G g.68725755A>G NUP107(NM_001330192.1):c.1448A>G (p.Y483C) - NUP107_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1538A>G r.(?) p.(His513Arg) - VUS g.69119538A>G g.68725758A>G NUP107(NM_020401.4):c.1538A>G (p.H513R) - NUP107_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1804G>A r.(?) p.(Val602Ile) - likely benign g.69124959G>A g.68731179G>A NUP107(NM_001330192.1):c.1717G>A (p.V573I) - NUP107_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1962T>C r.(?) p.(His654=) - likely benign g.69125463T>C g.68731683T>C NUP107(NM_001330192.1):c.1875T>C (p.H625=) - NUP107_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4304T>G r.(=) p.(=) - likely benign g.69140546T>G g.68746766T>G SLC35E3(NM_018656.2):c.389T>G (p.(Ile130Ser)) - NUP107_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query