Full data view for gene GLB1

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

185 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? ? c.? VUS r.? p.? Unknown g.? - - - GLB1_000031 - - - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - 1 -
?/? ? c.? VUS r.? p.? Unknown g.? - - - GLB1_000031 - - - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - 1 -
?/? ? c.? VUS r.? p.? Unknown g.? - - - GLB1_000031 - - - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - - - 0 - - 1 -
?/? ? c.? VUS r.? p.? Unknown g.? - - - GLB1_000031 - - - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - 1 -
?/? ? c.? VUS r.? p.? Unknown g.? - - - GLB1_000031 - - - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - Russian - 0 - - 1 -
?/? ? c.? VUS r.? p.? Unknown g.? - - - GLB1_000031 - - - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - British - 0 - - 1 -
-?/. - c.8G>T likely benign r.(?) p.(Gly3Val) Unknown g.33138570C>A - GLB1(NM_000404.3):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8G>T VUS r.(?) p.(Gly3Val) Unknown g.33138570C>A - GLB1(NM_000404.3):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - epilepsy - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Unknown g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.29C>T benign r.(?) p.(Pro10Leu) Unknown g.33138549G>A - GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T benign r.(?) p.(Pro10Leu) Unknown g.33138549G>A - GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T benign r.(?) p.(Pro10Leu) Unknown g.33138549G>A - GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C benign r.(?) p.(=) Unknown g.33138544A>G - GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C benign r.(?) p.(=) Unknown g.33138544A>G - GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C benign r.(?) p.(=) Unknown g.33138544A>G - GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.75+2dup likely pathogenic r.spl? p.? Unknown g.33138501dup - GLB1(NM_001317040.1):c.75+2dupT - GLB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1i c.75+2_75+3insT pathogenic (recessive) r.(?) p.? Both (homozygous) g.33138500_33138501insA - c.75+3_3insT - GLB1_000025 - PubMed: Chakraborty et al 1994 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - Belgian - 0 - - 1 -
?/. - c.76-5388A>G - - p.(=) Both (homozygous) g.33119593T>C g.33078101T>C - - GLB1_000037 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.76-5137_76-5136insT - - p.(=) Unknown g.33119341_33119342insA g.33077849_33077850insA - - GLB1_000043 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.76-4971_76-4970insA - - p.(=) Unknown g.33119175_33119176insT g.33077683_33077684insT - - GLB1_000038 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.76-4971_76-4970insA - - p.(=) Both (homozygous) g.33119175_33119176insT g.33077683_33077684insT - - GLB1_000038 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.76-4841T>A - - p.(=) Both (homozygous) g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.76-4841T>A - - p.(=) Both (homozygous) g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.76-4426C>T benign r.(=) p.(=) Unknown g.33118631G>A - GLB1(NM_000404.3):c.76-4426C>T - GLB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.76-4391G>A VUS r.(=) p.(=) Unknown g.33118596C>T - GLB1(NM_001317040.1):c.209G>A (p.R70Q) - GLB1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.145C>T pathogenic (recessive) r.(?) p.(Arg49Cys) Parent #1 g.33114136G>A - p.R49C - GLB1_000016 - PubMed: Nishimoto et al 1991 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - Estonian - 0 - - 1 -
?/. - c.146G>A VUS r.(?) p.(Arg49His) Unknown g.33114135C>T - GLB1(NM_001317040.1):c.290G>A (p.R97H) - GLB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.152T>C pathogenic (recessive) r.(?) p.(Ile51Thr) Parent #1 g.33114129A>G - p.I51T - GLB1_000027 - PubMed: Oshima et al 1991 - - Unknown - - - 0 - DNA SEQ - - Gangliosidosis GM1 type 3 - PubMed: Higaki et al 2011 - - - - Japanese - 0 - - 1 -
+/? 2 c.161G>T pathogenic (recessive) r.(?) p.(Ser54Ile) Unknown g.33114120C>A - p.S54I - GLB1_000012 - PubMed: Higaki et al 2011 - - Unknown - - - 0 - DNA SEQ - - gangliosidosis, GM1, infantile - PubMed: Higaki et al 2011 - - - - - - 0 - - 1 -
+/? 2 c.175C>T pathogenic (recessive) r.(?) p.(Arg59Cys) Parent #1 g.33114106G>A - p.R59C - GLB1_000013 - PubMed: Caciotti et al 2005 - - Unknown - - - 0 - DNA SEQ - - Gangliosidosis GM1 type 3 - PubMed: Higaki et al 2011 - - - - - - 0 - - 1 -
+/. - c.175C>T pathogenic r.(?) p.(Arg59Cys) Unknown g.33114106G>A - GLB1(NM_000404.2):c.175C>T (p.Arg59Cys) - GLB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.175C>T pathogenic r.(?) p.(Arg59Cys) Unknown g.33114106G>A - GLB1(NM_000404.2):c.175C>T (p.Arg59Cys) - GLB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.176G>A pathogenic r.(?) p.(Arg59His) Unknown g.33114105C>T - GLB1(NM_000404.3):c.176G>A (p.R59H) - GLB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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