Full data view for gene GLE1

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

87 entries on 1 page. Showing entries 1 - 87.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Function/GVS     

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.-4573G>A r.(?) p.(=) - Unknown - likely benign g.131262512G>A - ODF2(NM_001351578.2):c.2717G>A (p.(Arg906His)) - GLE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.100-7_100-3del r.100_321del p.Asp34_Lys107del - Parent #1 - pathogenic (recessive) g.131271148_131271152del g.128508869_128508873del - - GLE1_000024 - PubMed: Smith 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CAAHD FamPat1/2 PubMed: Smith 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Canada white - - - - 2 Johan den Dunnen
+/+ 1 c.209C>A r.209c>a p.Ser70* - Unknown - 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 - - - DNA, RNA RT-PCR, SEQ - - ALS - PubMed: Kaneb 2015 - ? ? - - 63y - - - 1 Anne Polvi
+?/. - c.433-15A>G r.spl? p.(=) - Unknown ACMG likely pathogenic (recessive) g.131284932A>G g.128522653A>G - - GLE1_000020 - - - - Germline - - - - - DNA SEQ-NG - - CAAHD - - - - - - - - - - - 1 Thabo Yates
+/+ 3i c.433-10A>G r.432_433ins433-9_433-1 p.Thr144_Glu145insProPheGln - Unknown - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 Finnish Major variant: 52 Finnish LCCS1 patients (51 hom and 1 com-het) and 12 Finnish LAAHD patients (com-het). - - - SUMMARY record yes 1/200 chromosomes (Finland) - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.433-10A>G r.432_433ins433-9_433-1 p.Thr144_Glu145insProPheGln - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - rs386833693 Germline - 1/200 control chromosomes (Finland) - - - DNA, RNA RT-PCR, SEQ - - LCCS1 Fam1 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam2 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam3 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam4 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam5 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam6 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam7 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam8 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam9 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam10 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam11 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam12 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam13 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam14 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam15 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam16 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam17 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam18 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam19 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam20 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam21 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam22 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam23 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam24 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam25 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam26 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam27 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Both (homozygous) - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam28 PubMed: Nousiainen 2008 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam29 PubMed: Johannesen 2020 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam30 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam31 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam32 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam33 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam34 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam35 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam36 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam37 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam38 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 3i c.433-10A>G r.(432_433ins433-9_433-1) p.(Thr144_Glu145insProPheGln) - Parent #1 - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam39 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
?/. - c.485C>T r.(?) p.(Ser162Leu) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514T>A r.(?) p.(Phe172Ile) - Unknown - VUS g.131285028T>A - GLE1(NM_001003722.1):c.514T>A (p.F172I) - GLE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.581G>A r.(?) p.(Ser194Asn) missense Maternal (confirmed) - likely pathogenic g.131285095G>A g.128522816G>A - - GLE1_000008 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Blood - LCCS1 - - - - ? - - - - Yes - 1 Karen Stals
-/. - c.727A>G r.(?) p.(Ile243Val) - Unknown - benign g.131285955A>G g.128523676A>G GLE1(NM_001003722.1):c.727A>G (p.I243V), GLE1(NM_001003722.2):c.727A>G (p.I243V) - GLE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.727A>G r.(?) p.(Ile243Val) - Unknown - benign g.131285955A>G g.128523676A>G GLE1(NM_001003722.1):c.727A>G (p.I243V), GLE1(NM_001003722.2):c.727A>G (p.I243V) - GLE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.727A>G r.(?) p.(Ile243Val) - Unknown - benign g.131285955A>G g.128523676A>G GLE1(NM_001003722.1):c.727A>G (p.I243V), GLE1(NM_001003722.2):c.727A>G (p.I243V) - GLE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809C>T r.(?) p.(Ala270Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.823G>A r.(?) p.(Asp275Asn) - Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.1000G>A r.(?) p.(Glu334Lys) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1402C>T r.(?) p.(Leu468Phe) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1522G>A r.(?) p.(Gly508Arg) - Unknown - VUS g.131296106G>A g.128533827G>A - - GLE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1706G>A r.1706g>a p.Arg569His - Unknown - pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 1 Finnish LCCS1 patient (com-het) - - rs121434407 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1706G>A r.(?) p.(Arg569His) coding Paternal (confirmed) - pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 - PubMed: Ellard 2015, Journal: Ellard 2015 - rs121434407 Germline yes - - - - DNA SEQ-NG-I - - LCCS1 Fam1 PubMed: Ellard 2015, Journal: Ellard 2015 couple, 2 affected fetuses, both terminated at 15-20 weeks gestation - no United Kingdom (Great Britain) white European 00y00m00d - - - 2 Hana Lango-Allen
+/. - c.1706G>A r.(?) p.(Arg569His) - Unknown ACMG likely pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 - - - - Germline - - - - - DNA SEQ-NG - - CAAHD - - - - - - - - - - - 1 Thabo Yates
+/. - c.1706G>A r.(?) p.(Arg569His) - Unknown ACMG likely pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 - - - - Germline - - - - - DNA SEQ-NG - - CAAHD - - - - - - - - - - - 1 Thabo Yates
+/. 12 c.1706G>A r.(?) p.(Arg569His) - Parent #2 - pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - LCCS1 Fam29 PubMed: Johannesen 2020 family - - Finland - <0d - - - 1 Johan den Dunnen
+/. - c.1706G>A r.(?) p.(Arg569His) - Parent #1 - pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 - PubMed: Said 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CAAHD Pat2 PubMed: Said 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no (Germany) Europe 04y - - - 1 Johan den Dunnen
+/. - c.1706G>A r.(?) p.(Arg569His) - Parent #1 - pathogenic (recessive) g.131298693G>A - - - GLE1_000002 - PubMed: Mahler 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat14 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Germany - - - - - 1 Johan den Dunnen
+/. - c.1750C>T r.(?) p.(Arg584Trp) - Parent #2 - pathogenic (recessive) g.131298737C>T g.128536458C>T - - GLE1_000023 - PubMed: Said 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CAAHD Pat2 PubMed: Said 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no (Germany) Europe 04y - - - 1 Johan den Dunnen
+/. - c.1750C>T r.(?) p.(Arg584Trp) - Parent #2 - pathogenic (recessive) g.131298737C>T - - - GLE1_000023 - PubMed: Mahler 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat14 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Germany - - - - - 1 Johan den Dunnen
+?/. - c.1790G>A r.(?) p.(Gly597Asp) - Both (homozygous) ACMG likely pathogenic (recessive) g.131300278G>A g.128537999G>A - - GLE1_000021 - - - - Germline - - - - - DNA SEQ-NG - - CAAHD - - - - - Afghanistan - - - - - 1 Thabo Yates
+/+ 13 c.1849G>A r.1849g>a p.Val617Met - Unknown - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 6 Finnish LAAHD patients (com-het) - - rs121434408 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1849G>A r.(?) p.(Val617Met) coding Maternal (confirmed) - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 - PubMed: Ellard 2015, Journal: Ellard 2015 - rs121434408 Germline yes - - - - DNA SEQ-NG-I - - LCCS1 Fam1 PubMed: Ellard 2015, Journal: Ellard 2015 couple, 2 affected fetuses, both terminated at 15-20 weeks gestation - no United Kingdom (Great Britain) white European 00y00m00d - - - 2 Hana Lango-Allen
+/. 13 c.1849G>A r.(?) p.(Val617Met) - Parent #2 - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam30 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 13 c.1849G>A r.(?) p.(Val617Met) - Parent #2 - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam31 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 13 c.1849G>A r.(?) p.(Val617Met) - Parent #2 - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam32 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 13 c.1849G>A r.(?) p.(Val617Met) - Parent #2 - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam33 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 13 c.1849G>A r.(?) p.(Val617Met) - Parent #2 - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam34 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 13i c.1882-2A>G r.1882_1964del p.Val238_Asnfs*2 - Parent #2 - pathogenic (recessive) g.131301893A>G g.128539614A>G - - GLE1_000025 - PubMed: Smith 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - CAAHD FamPat1/2 PubMed: Smith 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Canada white - - - - 2 Johan den Dunnen
+/+ 14i c.1965-2A>C r.1965_1972del p.Arg655Serfs*89 - Parent #1 - pathogenic g.131302552A>C g.128540273A>C - - GLE1_000006 two siblings with ALS (het) PubMed: Kaneb 2015 - - Germline yes 0/960 controls - - - DNA, RNA RT-PCR, SEQ - - ALS FamALS-34 PubMed: Kaneb 2015 3-generation family, 2 affected sisters (deceased 53y and 66y) F no Canada - - - - - 2 Anne Polvi
?/. - c.1995G>T r.(?) p.(Met665Ile) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2006T>A r.(?) p.(Ile669Lys) - Unknown ACMG likely pathogenic (recessive) g.131302595T>A g.128540316T>A - - GLE1_000019 - - - - Germline - - - - - DNA SEQ-NG - - CAAHD - - - - - - - - - - - 1 Thabo Yates
+?/. 15 c.2009G>T r.(?) p.(Arg670Leu) missense Paternal (confirmed) - likely pathogenic g.131302598G>T g.128540319G>T - - GLE1_000009 - - - rs201163437 Germline yes - - - - DNA SEQ, SEQ-NG Blood - LCCS1 - - - - ? - - - - Yes - 1 Karen Stals
+?/. - c.2009G>T r.(?) p.(Arg670Leu) - Unknown - likely pathogenic g.131302598G>T - GLE1(NM_001003722.2):c.2009G>T (p.(Arg670Leu)) - GLE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 16 c.2051T>C r.2051u>c p.Ile684Thr - Unknown - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 6 Finnish LAAHD patients (com-het) - - rs121434409 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2051T>C r.(?) p.(Ile684Thr) - Parent #2 - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam35 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 16 c.2051T>C r.(?) p.(Ile684Thr) - Parent #2 - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam36 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 16 c.2051T>C r.(?) p.(Ile684Thr) - Parent #2 - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam37 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 16 c.2051T>C r.(?) p.(Ile684Thr) - Parent #2 - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam38 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. 16 c.2051T>C r.(?) p.(Ile684Thr) - Parent #2 - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 - PubMed: Nousiainen 2008 - - Germline - - - - - DNA SEQ - - CAAHD Fam39 PubMed: Nousiainen 2008 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.2051T>C r.(?) p.(Ile684Thr) - Both (homozygous) - pathogenic (recessive) g.131303403T>C g.128541124T>C 2015T>C (I684T) - GLE1_000004 - PubMed: Paakkola 2018 - - Germline yes 2/615 control individuals - - - DNA SEQ, SEQ-NG - WES CAAHD Fam PubMed: Paakkola 2018 6-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Finland - - - - - 2 Johan den Dunnen
+/. - c.2078C>T r.(?) p.(Ser693Phe) - Both (homozygous) - pathogenic (recessive) g.131303430C>T g.128541151C>T - - GLE1_000022 - PubMed: Said 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAAHD Pat1 PubMed: Said 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Malta Europe;Malta - - - - 1 Johan den Dunnen
+?/+? 16 c.2089C>T r.(?) p.(Arg697Cys) - Unknown - likely pathogenic g.131303441C>T g.128541162C>T - - GLE1_000007 one patient with ALS (het) PubMed: Kaneb 2015 - - Germline yes 0/960 controls - - - DNA SEQ - - ALS - PubMed: Kaneb 2015 - - - (Canada) white - - - - 1 Anne Polvi
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