All variants in the NUBPL gene

Information The variants shown are described using the NM_025152.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/. _1_4i;6i_7i c.-163463_383-17961delins[[513+16_608-15358inv];CCTCAGCCCCTCAAA] r.0? p.0? - pathogenic (recessive) g.31867183_32124600delins[32142796_32280477inv;CCTCAGCCCCTCAAA] - - - NUBPL_000022 - PubMed: Calvo 2010, PubMed: Tucker 2012 - - Germline - - - - - Johan den Dunnen
?/. - c.-1C>T r.(=) p.(=) - VUS g.32030645C>T g.31561439C>T - - NUBPL_000019 conflicting interpretations of pathogenicity; 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45468395 Germline - 16/2793 individuals - - - Mohammed Faruq
?/. - c.2T>C r.(?) p.(Met1?) - VUS g.32030647T>C - NUBPL(NM_025152.2):c.2T>C (p.M1?) - NUBPL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.13C>T r.(?) p.(Gln5*) - VUS g.32030658C>T - NUBPL(NM_025152.3):c.13C>T (p.(Gln5*)) - NUBPL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.166G>A r.(?) p.(Gly56Arg) - VUS g.32031331G>A g.31562125G>A NUBPL(NM_025152.2):c.166G>A (p.G56R) - NUBPL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A g.31562125G>A - - NUBPL_000017 - PubMed: Green 2020, PubMed: Green 2020 - - Germline - - - - - Johan den Dunnen
-/. - c.166G>A r.(?) p.Gly56Arg - NA g.32031331G>A - - - NUBPL_000017 lentiviral cDNA expression in fibroblasts gives stable protein able to restore CI activity PubMed: Tucker 2012 - - In vitro (cloned) - - - - - Johan den Dunnen
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A - - - NUBPL_000017 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A - - - NUBPL_000017 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A - - - NUBPL_000017 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A - - - NUBPL_000017 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A - - - NUBPL_000017 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.166G>A r.(?) p.(Gly56Arg) - likely benign g.32031331G>A - - - NUBPL_000017 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.268C>T r.(?) p.(Leu90Phe) - likely benign g.32034231C>T g.31565025C>T NUBPL(NM_025152.2):c.268C>T (p.(Leu90Phe)) - NUBPL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.291+12963T>C r.(=) p.(=) - benign g.32047217T>C g.31578011T>C NUBPL(NM_001201573.2):c.-12T>C - NUBPL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.313G>T r.(?) p.(Asp105Tyr) - likely pathogenic (recessive) g.32068516G>T - - - NUBPL_000024 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+?/. - c.313G>T r.(?) p.(Asp105Tyr) - likely pathogenic (recessive) g.32068516G>T - - - NUBPL_000024 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+?/. - c.351G>A r.(?) p.(Met117Ile) - likely pathogenic (recessive) g.32068554G>A - - - NUBPL_000027 - PubMed: Friedrich 2020 - - Germline - - - - - Johan den Dunnen
-/. - c.383-20_383-19del r.(=) p.(=) - benign g.32142541_32142542del g.31673335_31673336del NUBPL(NM_025152.3):c.383-20_383-19delAG - NUBPL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.383-5dup r.spl? p.? - benign g.32142556dup g.31673350dup NUBPL(NM_025152.3):c.383-5dupT - NUBPL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.413G>A r.(?) p.(Gly138Asp) - VUS g.32142591G>A - NUBPL(NM_025152.2):c.413G>A (p.G138D) - NUBPL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.426G>A r.(?) p.(Met142Ile) - VUS g.32142693G>A g.31673487G>A - - NUBPL_000020 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs863224124 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. - c.488C>T r.(?) p.(Ser163Leu) - VUS g.32142755C>T - NUBPL(NM_025152.3):c.488C>T (p.S163L) - NUBPL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.490dup r.(?) p.(Ala164Glyfs*3) - pathogenic g.32142757dup - NUBPL(NM_001201573.1):c.201_202insG (p.(Gln68fs)) - NUBPL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.514-42302T>G r.(=) p.(=) - VUS g.32214684T>G g.31745478T>G - - NUBPL_000007 - - - - Germline - - - - - Yu Sun
?/. - c.514-42302T>G r.(=) p.(=) - VUS g.32214684T>G g.31745478T>G - - NUBPL_000007 - - - - Germline - - - - - Yu Sun
?/. - c.514-41806G>A r.(=) p.(=) - VUS g.32215180G>A g.31745974G>A - - NUBPL_000005 - - - - Germline - - - - - Yu Sun
?/. - c.514-41806G>A r.(=) p.(=) - VUS g.32215180G>A g.31745974G>A - - NUBPL_000005 - - - - Germline - - - - - Yu Sun
?/. - c.514-41756C>G r.(=) p.(=) - VUS g.32215230C>G g.31746024C>G - - NUBPL_000003 - - - - Germline - - - - - Yu Sun
?/. - c.514-41756C>G r.(=) p.(=) - VUS g.32215230C>G g.31746024C>G - - NUBPL_000003 - - - - Germline - - - - - Yu Sun
?/. - c.514-41534T>C r.(=) p.(=) - VUS g.32215452T>C g.31746246T>C - - NUBPL_000001 - - - - Germline - - - - - Yu Sun
?/. - c.514-41534T>C r.(=) p.(=) - VUS g.32215452T>C g.31746246T>C - - NUBPL_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.545T>C r.(?) p.(Val182Ala) - likely benign g.32257017T>C g.31787811T>C NUBPL(NM_025152.2):c.545T>C (p.V182A), NUBPL(NM_025152.3):c.545T>C (p.(Val182Ala), p.V182A) - NUBPL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.545T>C r.(?) p.(Val182Ala) - likely benign g.32257017T>C g.31787811T>C NUBPL(NM_025152.2):c.545T>C (p.V182A), NUBPL(NM_025152.3):c.545T>C (p.(Val182Ala), p.V182A) - NUBPL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.545T>C r.(?) p.(Val182Ala) - likely benign g.32257017T>C - NUBPL(NM_025152.2):c.545T>C (p.V182A), NUBPL(NM_025152.3):c.545T>C (p.(Val182Ala), p.V182A) - NUBPL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.579A>C r.(?) p.(Leu193Phe) - likely pathogenic (recessive) g.32257051A>C - - - NUBPL_000026 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
-/. - c.593A>C r.(?) p.(Asn198Thr) - benign g.32257065A>C g.31787859A>C NUBPL(NM_025152.2):c.593A>C (p.N198T) - NUBPL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.625A>C r.(?) p.(Thr209Pro) - VUS g.32295852A>C g.31826646A>C NUBPL(NM_001201573.1):c.337A>C (p.(Thr113Pro)) - NUBPL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.639C>T r.(?) p.(Ile213=) - likely benign g.32295866C>T - NUBPL(NM_025152.2):c.639C>T (p.I213=) - NUBPL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.667_668insCCTTGTGCTG r.(?) p.(Glu223Alafs*4) - pathogenic (recessive) g.32295894_32295895insCCTTGTGCTG g.31826688_31826689insCCTTGTGCTG - - NUBPL_000023 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.693+1G>A r.spl p.? - pathogenic (recessive) g.32295921G>A - - - NUBPL_000025 no maternal DNA available PubMed: Kevelam 2013 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.693+1G>A r.spl p.? - pathogenic (recessive) g.32295921G>A - - - NUBPL_000025 - PubMed: Friedrich 2020 - - Germline - - - - - Johan den Dunnen
-?/. - c.815-27T>C r.(=) p.(=) - likely benign g.32319298T>C g.31850092T>C NUBPL(NM_025152.3):c.815-27T>C - NUBPL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.815-27T>C r.(=) p.(=) - VUS g.32319298T>C g.31850092T>C - - NUBPL_000016 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118161496 Germline - 7/2773 individuals - - - Mohammed Faruq
+/. - c.815-27T>C r.[815_897del,814_815ins[815-72_815-28;c;815-26_815-1],=] p.? - pathogenic (recessive) g.32319298T>C g.31850092T>C - - NUBPL_000016 - PubMed: Green 2020, PubMed: Green 2020 - - Germline - - - - - Johan den Dunnen
+/. - c.815-27T>C r.spl p.? - pathogenic (recessive) g.32319298T>C - - - NUBPL_000016 no parental DNA available PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.815-27T>C r.spl p.? - pathogenic (recessive) g.32319298T>C - - - NUBPL_000016 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.815-27T>C r.spl p.? - pathogenic (recessive) g.32319298T>C - - - NUBPL_000016 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.815-27T>C r.spl p.? - pathogenic (recessive) g.32319298T>C - - - NUBPL_000016 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.815-27T>C r.spl p.? - pathogenic (recessive) g.32319298T>C - - - NUBPL_000016 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.815-27T>C r.spl p.? - pathogenic (recessive) g.32319298T>C - - - NUBPL_000016 - PubMed: Kevelam 2013 - - Germline - - - - - Johan den Dunnen
?/. - c.815-27T>C r.(=) p.(=) - VUS g.32319298T>C - NUBPL(NM_025152.3):c.815-27T>C - NUBPL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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