Full data view for gene GLUL

Information The variants shown are described using the NM_001033044.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 1i c.-13-2A>G r.-13_13del p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357887T>C g.182388752T>C - - GLUL_000008 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE Pat8 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 1i c.-13-1G>A r.(-13_13del) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357886C>T g.182388751C>T - - GLUL_000007 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat7 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.1A>C r.(1a>c) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357872T>G g.182388737T>G - - GLUL_000005 - PubMed: Jones 2024, Journal: Jones 2024, PubMed: Heinzen - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE, PVNH pvhnz3438bvf1;Pat3 PubMed: Heinzen, PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - 1 - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(1a>g) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357872T>C g.182388737T>C - - GLUL_000006 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat4 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - South Africa - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(1a>g) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357872T>C g.182388737T>C - - GLUL_000006 - PubMed: Jones 2024, Journal: Jones 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES DEE Pat5 PubMed: Jones 2024, Journal: Jones 2024 patients F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(1a>g) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357872T>C g.182388737T>C - - GLUL_000006 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat6 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(1a>g) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357872T>C g.182388737T>C - - GLUL_000006 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat9 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - 1 Johan den Dunnen
+?/. 1 c.1A>G r.? p.? Unknown ACMG pathogenic (dominant) g.182357872T>C g.182388737T>C - - GLUL_000006 ACMG: PVS1_STR, PS1, PS2_SUP, PM2_SUP; PubMed 38579670 - VCV001194257.5 - De novo - - - - - DNA SEQ-NG-I Blood - DEE 303626 - - F no Germany - - - - - 1 Andreas Laner
+/. 2 c.1A>T r.(1a>u) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357872T>A g.182388737T>A - - GLUL_000004 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat2 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.3G>A r.(1g>a) p.Thr2_Met18del Unknown - pathogenic (dominant) g.182357870C>T g.182388735C>T - - GLUL_000003 - PubMed: Jones 2024, Journal: Jones 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DEE Pat1 PubMed: Jones 2024, Journal: Jones 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-/. - c.195T>C r.(?) p.(Ser65=) Unknown - benign g.182356399A>G g.182387264A>G GLUL(NM_002065.7):c.195T>C (p.S65=) - GLUL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328+9_328+10dup r.(=) p.(=) Unknown - likely benign g.182356258_182356259dup - GLUL(NM_002065.6):c.328+9_328+10dupTA - GLUL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054A>G r.(?) p.(Thr352Ala) Unknown - VUS g.182353608T>C - GLUL(NM_001033044.4):c.1054A>G (p.(Thr352Ala)) - GLUL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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