Full data view for gene GLDN

Information The variants shown are described using the NM_181789.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.-3192A>G r.(?) p.(=) Unknown - VUS g.51630690A>G g.51338493A>G - - CYP19A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.59T>C r.(?) p.(Leu20Pro) Parent #1 ACMG likely pathogenic (recessive) g.51633940T>C g.51341743T>C - - GLDN_000020 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - FADS D12-950 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 family, 2 affected siblings - - Australia - - - - - 2 Gianina Ravenscroft
+/. 1 c.95C>A r.(?) p.(Ala32Glu) Both (homozygous) - pathogenic g.51633976C>A g.51341779C>A - - GLDN_000010 - PubMed: Maluenda 2016, Journal: Maluenda 2016, OMIM:var0003 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 22865819-Fam2 PubMed: Maluenda 2016, Journal: Maluenda 2016 2-generation family, affected fetus, unaffected heterozygous carrier parents M yes France - <0d - - - 1 Johan den Dunnen
+?/. - c.363+1G>A r.spl p.? Parent #2 ACMG likely pathogenic (recessive) g.51634245G>A g.51342048G>A - - GLDN_000021 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - FADS D12-950 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 family, 2 affected siblings - - Australia - - - - - 2 Gianina Ravenscroft
?/. 1i c.363+8784A>G r.(=) p.(=) Both (homozygous) - VUS g.51643028A>G g.51350831A>G - - GLDN_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.363+8880G>C r.(=) p.(=) Both (homozygous) - VUS g.51643124G>C g.51350927G>C - - GLDN_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.363+9205C>G r.(=) p.(=) Both (homozygous) - VUS g.51643449C>G g.51351252C>G - - GLDN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.363+9205C>G r.(=) p.(=) Unknown - VUS g.51643449C>G g.51351252C>G - - GLDN_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.364A>T r.(?) p.(Ile122Phe) Unknown - VUS g.51669646A>T - GLDN(NM_181789.4):c.364A>T (p.(Ile122Phe)) - GLDN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466A>G r.(?) p.(Asn156Asp) Unknown - VUS g.51676014A>G - GLDN(NM_181789.4):c.466A>G (p.(Asn156Asp)) - GLDN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.541+1G>A r.0 p.0 Maternal (confirmed) - pathogenic g.51676090G>A g.51383893G>A - - GLDN_000014 no RNA transcript detected PubMed: Maluenda 2016, Journal: Maluenda 2016, OMIM:var0005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? 22865819-Fam3 PubMed: Maluenda 2016, Journal: Maluenda 2016 2-generation family, affected male fetuses, unaffected heterozygous carrier parents M no France - <0d - - - 2 Johan den Dunnen
+/. 6 c.758del r.(?) p.(Pro253Leufs*51) Paternal (confirmed) - pathogenic g.51689736del g.51397539del - - GLDN_000009 - PubMed: Maluenda 2016, Journal: Maluenda 2016, OMIM:var0001 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 22865819-Fam1 PubMed: Maluenda 2016, Journal: Maluenda 2016 2-generation family, affected male/female fetuses, unaffected heterozygous carrier parents F;M no France - <0d - - - 2 Johan den Dunnen
-?/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - likely benign g.51689763G>A g.51397566G>A GLDN(NM_181789.2):c.785G>A (p.(Arg262Gln)) - GLDN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.848C>T r.(?) p.(Thr283Ile) Unknown - likely benign g.51692419C>T g.51400222C>T GLDN(NM_181789.2):c.848C>T (p.(Thr283Ile)) - GLDN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899C>T r.(?) p.(Ala300Val) Unknown - VUS g.51692470C>T - GLDN(NM_181789.4):c.899C>T (p.(Ala300Val)) - GLDN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.927_930del r.(?) p.(Asn309Lysfs*5) Maternal (confirmed) - pathogenic g.51692595_51692598del g.51400398_51400401del - - GLDN_000006 - Manuscript in submission - - Germline yes - - - - DNA SEQ-NG-I - - LCCS11 Patient_1 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+/. 8 c.927_930del r.(?) p.(Asn309Lysfs*5) Maternal (confirmed) - pathogenic g.51692595_51692598del g.51400398_51400401del - - GLDN_000006 - Manuscript in submission - - Germline yes - - - - DNA SEQ-NG-I - - LCCS11 Patient_2 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+/. 8 c.927_930del r.(?) p.(Asn309Lysfs*5) Maternal (confirmed) - pathogenic g.51692595_51692598del g.51400398_51400401del - - GLDN_000006 - Manuscript in submission - - Germline yes - - - - DNA SEQ-NG-I - - LCCS11 Patient_3 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
-?/. - c.1051G>A r.(?) p.(Asp351Asn) Unknown - likely benign g.51693813G>A g.51401616G>A GLDN(NM_181789.2):c.1051G>A (p.(Asp351Asn)) - GLDN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1178G>A r.(spl?) p.(Arg393Lys) Unknown - likely pathogenic g.51693940G>A g.51401743G>A - - GLDN_000005 - Manuscript in submission - - Germline - - - - - DNA SEQ-NG-I - - LCCS11 Patient_8 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+?/. - c.1178G>A r.(?) p.(Arg393Lys) Unknown - likely pathogenic g.51693940G>A - GLDN(NM_181789.4):c.1178G>A (p.R393K) - GLDN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1205A>C r.(?) p.(Gln402Pro) Unknown - VUS g.51696500A>C - GLDN(NM_181789.4):c.1205A>C (p.(Gln402Pro)) - GLDN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1240C>T r.1240c>u p.Arg414* Paternal (confirmed) - pathogenic g.51696535C>T g.51404338C>T - - GLDN_000011 - PubMed: Maluenda 2016, Journal: Maluenda 2016, OMIM:var0004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? 22865819-Fam3 PubMed: Maluenda 2016, Journal: Maluenda 2016 2-generation family, affected male fetuses, unaffected heterozygous carrier parents M no France - <0d - - - 2 Johan den Dunnen
+/. 10 c.1305G>A r.(?) p.(Trp435*) Both (homozygous) - pathogenic g.51696600G>A g.51404403G>A - - GLDN_000002 - Manuscript in submission - - Germline - - - - - DNA SEQ-NG-I - - LCCS11 Patient_4 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+/. 10 c.1305G>A r.(?) p.(Trp435*) Both (homozygous) - pathogenic g.51696600G>A g.51404403G>A - - GLDN_000002 - Manuscript in submission - - Germline - - - - - DNA SEQ-NG-I - - LCCS11 Patient_5 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+/. 10 c.1305G>A r.(?) p.(Trp435*) Both (homozygous) - pathogenic g.51696600G>A g.51404403G>A - - GLDN_000002 - Manuscript in submission - - Germline - - - - - DNA SEQ-NG-I - - LCCS11 Patient_6 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
-?/. - c.1321A>G r.(?) p.(Ser441Gly) Unknown - likely benign g.51696616A>G g.51404419A>G GLDN(NM_181789.2):c.1321A>G (p.(Ser441Gly)) - GLDN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1423G>C r.(?) p.(Ala475Pro) Maternal (confirmed) - pathogenic g.51696718G>C g.51404521G>C - - GLDN_000013 - PubMed: Maluenda 2016, Journal: Maluenda 2016, OMIM:var0002 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 22865819-Fam1 PubMed: Maluenda 2016, Journal: Maluenda 2016 2-generation family, affected male/female fetuses, unaffected heterozygous carrier parents F;M no France - <0d - - - 2 Johan den Dunnen
+?/. 10 c.1428C>A r.(?) p.(Phe476Leu) Unknown - likely pathogenic g.51696723C>A g.51404526C>A - - GLDN_000008 - Manuscript in submission - - Germline - - - - - DNA SEQ-NG-I - - LCCS11 Patient_8 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+/. 10 c.1435C>T r.(?) p.(Arg479*) Both (homozygous) - pathogenic g.51696730C>T g.51404533C>T - - GLDN_000012 - PubMed: Maluenda 2016, Journal: Maluenda 2016, OMIM:var0006 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 22865819-Fam4 PubMed: Maluenda 2016, Journal: Maluenda 2016 2-generation family, affected female fetus, unaffected heterozygous carrier parents F yes France - <0d - - - 1 Johan den Dunnen
+?/. 10 c.1436G>C r.(?) p.(Arg479Pro) Paternal (confirmed) - likely pathogenic g.51696731G>C g.51404534G>C - - GLDN_000007 - Manuscript in submission - - Germline yes - - - - DNA SEQ-NG-I - - LCCS11 Patient_2 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+?/. 10 c.1436G>C r.(?) p.(Arg479Pro) Paternal (confirmed) - likely pathogenic g.51696731G>C g.51404534G>C - - GLDN_000007 - Manuscript in submission - - Germline yes - - - - DNA SEQ-NG-I - - LCCS11 Patient_1 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
+?/. 10 c.1436G>C r.(?) p.(Arg479Pro) Paternal (confirmed) - likely pathogenic g.51696731G>C g.51404534G>C - - GLDN_000007 - Manuscript in submission - - Germline yes - - - - DNA SEQ-NG-I - - LCCS11 Patient_3 Manuscript in submission - - - - - - - - - 1 Dustin Baldridge
?/. - c.1436G>T r.(?) p.(Arg479Leu) Unknown - VUS g.51696731G>T - GLDN(NM_181789.4):c.1436G>T (p.(Arg479Leu)) - GLDN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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