Unique variants in the GLE1 gene

Information The variants shown are described using the NM_001003722.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     

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 1i c.100-7_100-3del r.100_321del p.Asp34_Lys107del - - - pathogenic (recessive) g.131271148_131271152del g.128508869_128508873del - - GLE1_000024 - PubMed: Smith 2017 - - Germline yes - - - - Johan den Dunnen
+/+ 1 1 c.209C>A r.209c>a p.Ser70* - - - pathogenic g.131271264C>A g.128508985C>A - - GLE1_000005 very low RNA level; one patient with ALS (het) PubMed: Kaneb 2015 - - Germline yes 0/960 controls - - - Anne Polvi
+?/. 1 - c.433-15A>G r.spl? p.(=) - - ACMG likely pathogenic (recessive) g.131284932A>G g.128522653A>G - - GLE1_000020 - - - - Germline - - - - - Thabo Yates
+/+, +/. 40 3i c.433-10A>G r.(432_433ins433-9_433-1), r.432_433ins433-9_433-1 p.(Thr144_Glu145insProPheGln), p.Thr144_Glu145insProPheGln - - - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 1 more item PubMed: Nousiainen 2008 - rs386833693 Germline, SUMMARY record yes 1/200 chromosomes (Finland), 1/200 control chromosomes (Finland) - - - Johan den Dunnen, Anne Polvi
?/. 1 - c.485C>T r.(?) p.(Ser162Leu) - - - VUS g.131284999C>T g.128522720C>T GLE1(NM_001003722.1):c.485C>T (p.S162L) - GLE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.514T>A r.(?) p.(Phe172Ile) - - - VUS g.131285028T>A - GLE1(NM_001003722.1):c.514T>A (p.F172I) - GLE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 4 c.581G>A r.(?) p.(Ser194Asn) Probably damaging missense - likely pathogenic g.131285095G>A g.128522816G>A - - GLE1_000008 - - - - Germline yes - - - - Karen Stals
-/. 3 - c.727A>G r.(?) p.(Ile243Val) - - - benign g.131285955A>G g.128523676A>G GLE1(NM_001003722.1):c.727A>G (p.I243V) - GLE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.809C>T r.(?) p.(Ala270Val) - - - likely benign g.131286037C>T g.128523758C>T GLE1(NM_001003722.1):c.809C>T (p.(Ala270Val)) - GLE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.823G>A r.(?) p.(Asp275Asn) - - - VUS g.131286051G>A g.128523772G>A - - GLE1_000018 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146800850 Germline - 2/2793 individuals - - - Mohammed Faruq
-/. 1 - c.1000G>A r.(?) p.(Glu334Lys) - - - benign g.131287573G>A g.128525294G>A GLE1(NM_001003722.1):c.1000G>A (p.E334K) - GLE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1402C>T r.(?) p.(Leu468Phe) - - - VUS g.131295881C>T g.128533602C>T GLE1(NM_001003722.1):c.1402C>T (p.L468F) - GLE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1522G>A r.(?) p.(Gly508Arg) - - - VUS g.131296106G>A g.128533827G>A - - GLE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/. 7 12 c.1706G>A r.(?), r.1706g>a p.(Arg569His), p.Arg569His probablyDamaging coding ACMG likely pathogenic (recessive), pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 1 Finnish LCCS1 patient (com-het) PubMed: Ellard 2015, Journal: Ellard 2015, PubMed: Mahler 2019, PubMed: Nousiainen 2008, 1 more item - rs121434407 Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi, Hana Lango-Allen, Thabo Yates
+/. 2 - c.1750C>T r.(?) p.(Arg584Trp) - - - pathogenic (recessive) g.131298737C>T g.128536458C>T - - GLE1_000023 - PubMed: Mahler 2019, PubMed: Said 2017 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1790G>A r.(?) p.(Gly597Asp) - - ACMG likely pathogenic (recessive) g.131300278G>A g.128537999G>A - - GLE1_000021 - - - - Germline - - - - - Thabo Yates
+/+, +/. 7 13 c.1849G>A r.(?), r.1849g>a p.(Val617Met), p.Val617Met benign coding - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 6 Finnish LAAHD patients (com-het) PubMed: Ellard 2015, Journal: Ellard 2015, PubMed: Nousiainen 2008 - rs121434408 Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi, Hana Lango-Allen
+/. 1 13i c.1882-2A>G r.1882_1964del p.Val238_Asnfs*2 - - - pathogenic (recessive) g.131301893A>G g.128539614A>G - - GLE1_000025 - PubMed: Smith 2017 - - Germline yes - - - - Johan den Dunnen
+/+ 1 14i c.1965-2A>C r.1965_1972del p.Arg655Serfs*89 - - - pathogenic g.131302552A>C g.128540273A>C - - GLE1_000006 two siblings with ALS (het) PubMed: Kaneb 2015 - - Germline yes 0/960 controls - - - Anne Polvi
?/. 1 - c.1995G>T r.(?) p.(Met665Ile) - - - VUS g.131302584G>T g.128540305G>T GLE1(NM_001003722.1):c.1995G>T (p.M665I) - GLE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2006T>A r.(?) p.(Ile669Lys) - - ACMG likely pathogenic (recessive) g.131302595T>A g.128540316T>A - - GLE1_000019 - - - - Germline - - - - - Thabo Yates
+?/. 1 15 c.2009G>T r.(?) p.(Arg670Leu) Probably damaging missense - likely pathogenic g.131302598G>T g.128540319G>T - - GLE1_000009 - - - rs201163437 Germline yes - - - - Karen Stals
+/+, +/. 7 16 c.2051T>C r.(?), r.2051u>c p.(Ile684Thr), p.Ile684Thr possiblyDamaging - - pathogenic (recessive) g.131303403T>C g.128541124T>C 2015T>C (I684T) - GLE1_000004 6 Finnish LAAHD patients (com-het) PubMed: Nousiainen 2008, PubMed: Paakkola 2018 - rs121434409 Germline, SUMMARY record yes 2/615 control individuals - - - Johan den Dunnen, Anne Polvi
+/. 1 - c.2078C>T r.(?) p.(Ser693Phe) - - - pathogenic (recessive) g.131303430C>T g.128541151C>T - - GLE1_000022 - PubMed: Said 2017 - - Germline - - - - - Johan den Dunnen
+?/+? 1 16 c.2089C>T r.(?) p.(Arg697Cys) - - - likely pathogenic g.131303441C>T g.128541162C>T - - GLE1_000007 one patient with ALS (het) PubMed: Kaneb 2015 - - Germline yes 0/960 controls - - - Anne Polvi
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