Full data view for gene GLB1

Information The variants shown are described using the NM_000404.2 transcript reference sequence.

253 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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     
?/. 1 c.2T>C r.(?) p.0? Both (homozygous) - VUS g.33138576A>G - - - GLB1_000104 - Tebani et al. 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - MPS4B - - - F yes - - - - - - 1 Sarah Snanoudj
-?/. - c.8G>T r.(?) p.(Gly3Val) Unknown - likely benign g.33138570C>A g.33097078C>A GLB1(NM_000404.2):c.8G>T (p.(Gly3Val)), GLB1(NM_000404.4):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>T r.(?) p.(Gly3Val) Unknown - VUS g.33138570C>A g.33097078C>A GLB1(NM_000404.2):c.8G>T (p.(Gly3Val)), GLB1(NM_000404.4):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - ? NA04364 PubMed: Bell 2011 - M - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - epilepsy - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.29C>T r.(?) p.(Pro10Leu) Both (homozygous) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L), GLB1(NM_000404.4):c.29C>T (p.P10L) - GLB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L), GLB1(NM_000404.4):c.29C>T (p.P10L) - GLB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L), GLB1(NM_000404.4):c.29C>T (p.P10L) - GLB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.33138549G>A g.33097057G>A GLB1 3:33113553 (hg18) het CM055955 70.2% - GLB1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01210 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.33138549G>A g.33097057G>A GLB1 3:33113553 (hg18) het CM055955 70.2% - GLB1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01899 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.33138549G>A g.33097057G>A GLB1 3:33113553 (hg18) het CM055955 70.2% - GLB1_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA03575 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
-?/. - c.31C>G r.(?) p.(Leu11Val) Unknown - likely benign g.33138547G>C - GLB1(NM_001317040.1):c.31C>G (p.L11V) - GLB1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C r.(?) p.(Leu12=) Unknown - benign g.33138544A>G g.33097052A>G GLB1(NM_000404.3):c.34T>C (p.L12=), GLB1(NM_000404.4):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C r.(?) p.(Leu12=) Unknown - benign g.33138544A>G g.33097052A>G GLB1(NM_000404.3):c.34T>C (p.L12=), GLB1(NM_000404.4):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C r.(?) p.(Leu12=) Unknown - benign g.33138544A>G g.33097052A>G GLB1(NM_000404.3):c.34T>C (p.L12=), GLB1(NM_000404.4):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1i c.75+2dup r.spl? p.? Both (homozygous) - pathogenic (recessive) g.33138501dup g.33097009dup c.75+3_3insT - GLB1_000025 - PubMed: Chakraborty et al 1994 - - Unknown - - - - - DNA SEQ - - GM1G1 - PubMed: Higaki et al 2011 - - - - Belgian - - - - 1 LOVD
+?/. - c.75+2dup r.spl? p.? Unknown - likely pathogenic g.33138501dup g.33097009dup GLB1(NM_001317040.1):c.75+2dupT - GLB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.75+2dup r.spl? p.? Unknown - VUS g.33138501dup - - - GLB1_000025 - Chakraborty et al. 1994 - - Germline - - - - - DNA SEQ-NG-I blood - GM1G2 - - - F no - - - - - - 1 Sarah Snanoudj
?/. - c.76-5388A>G r.(=) p.(=) Both (homozygous) - VUS g.33119593T>C g.33078101T>C - - GLB1_000037 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.76-5137dup r.(=) p.(=) Unknown - VUS g.33119351dup g.33077859dup - - GLB1_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.76-4971dup r.(=) p.(=) Unknown - VUS g.33119187dup g.33077695dup - - GLB1_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.76-4971dup r.(=) p.(=) Both (homozygous) - VUS g.33119187dup g.33077695dup - - GLB1_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.76-4841T>A r.(=) p.(=) Both (homozygous) - VUS g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.76-4841T>A r.(=) p.(=) Both (homozygous) - VUS g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.76-4537T>C r.(=) p.(=) Unknown - likely benign g.33118742A>G g.33077250A>G - - GLB1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76-4532G>T r.(=) p.(=) Unknown - VUS g.33118737C>A - GLB1(NM_001317040.2):c.76-8G>T - GLB1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76-4438_76-4437insAAAGAGGTA r.(=) p.(=) Unknown - VUS g.33118643_33118644insACCTCTTTT - GLB1(NM_001317040.2):c.162_163insAAAGAGGTA (p.(Ala54_Pro55insLysGluVal)) - GLB1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76-4436_76-4435insAA r.(=) p.(=) Unknown - VUS g.33118640_33118641insTT - GLB1(NM_001317040.2):c.164_165insAA (p.(Asn56Argfs*64)) - GLB1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76-4426C>T r.(=) p.(=) Unknown - benign g.33118631G>A g.33077139G>A GLB1(NM_000404.4):c.76-4426C>T - GLB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76-4391G>A r.(=) p.(=) Unknown - VUS g.33118596C>T g.33077104C>T GLB1(NM_001317040.1):c.209G>A (p.R70Q) - GLB1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128A>G r.(?) p.(Lys43Arg) Unknown - VUS g.33114153T>C - GLB1(NM_000404.4):c.128A>G (p.(Lys43Arg)) - GLB1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic (recessive) g.33114136G>A g.33072644G>A p.R49C - GLB1_000016 - PubMed: Nishimoto et al 1991 - - Unknown - - - - - DNA SEQ - - GM1G1 - PubMed: Higaki et al 2011 - - - - Estonian - - - - 1 LOVD
+/. 2 c.145C>T r.(?) p.(Arg49Cys) Unknown - pathogenic g.33114136G>A g.33072644G>A - - GLB1_000016 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4159 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.146G>A r.(?) p.(Arg49His) Unknown - VUS g.33114135C>T g.33072643C>T GLB1(NM_001317040.1):c.290G>A (p.R97H) - GLB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.149A>G r.(?) p.(Tyr50Cys) Unknown ACMG likely pathogenic (recessive) g.33114132T>C - - - GLB1_000099 - Tebani et al. 2020, submitted - - Germline - - - - - DNA SEQ-NG-I blood - GM1G1 - - - F no - - - - - - 1 Sarah Snanoudj
+/? 2 c.152T>C r.(?) p.(Ile51Thr) Parent #1 - pathogenic (recessive) g.33114129A>G g.33072637A>G p.I51T - GLB1_000027 - PubMed: Oshima et al 1991 - - Unknown - - - - - DNA SEQ - - GM1G3 - PubMed: Higaki et al 2011 - - - - Japanese - - - - 1 LOVD
+/? 2 c.161G>T r.(?) p.(Ser54Ile) Unknown - pathogenic (recessive) g.33114120C>A g.33072628C>A p.S54I - GLB1_000012 unknown variant 2nd chromosome PubMed: Higaki et al 2011 - - Unknown - - - - - DNA SEQ - - GM1G1 - PubMed: Higaki et al 2011 - - - - - - - - - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.