Full data view for gene GLB1

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

114 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.29C>T - r.(?) p.(Pro10Leu) Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HAN‐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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - 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_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.29C>T benign r.(?) p.(Pro10Leu) Unknown g.33138549G>A - GLB1:c.29C>T (P10L) - GLB1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T benign r.(?) p.(Pro10Leu) Unknown g.33138549G>A - GLB1:NM_000404.2:c.29C>T (Pro10Leu) - GLB1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C benign r.(=) p.(=) Unknown g.33138544A>G - GLB1:c.34T>C (=) - GLB1_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C benign r.(=) p.(=) Unknown g.33138544A>G - GLB1:c.34T>C (=) - GLB1_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.34T>C benign r.(=) p.(=) Unknown g.33138544A>G - GLB1:NM_000404.2:c.34T>C (=) - GLB1_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.75+3_75+4insT likely pathogenic r.spl? p.? Unknown g.33138499_33138500insA - GLB1:c.75+2_75+3insT - GLB1_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.76-5388A>G - - p.(=) Both (homozygous) g.33119593T>C g.33078101T>C - - GLB1_000002 - - - - Germline - - - - - 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_000006 - - - - Germline - - - - - 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_000005 - - - - Germline - - - - - 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_000005 - - - - Germline - - - - - 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_000003 - - - - Germline - - - - - 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_000003 - - - - Germline - - - - - 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:c.76-4426C>T - GLB1_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.176G>A pathogenic r.(?) p.(Arg59His) Unknown g.33114105C>T - GLB1:c.176G>A (R59H) - GLB1_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.176G>A pathogenic r.(?) p.(Arg59His) Unknown g.33114105C>T - GLB1:NM_000404.3(GLB1):c.176G>A (Arg59His) - GLB1_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.245+1G>A pathogenic r.spl? p.? Unknown g.33114035C>T - GLB1:c.245+1G>A - GLB1_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.325C>T benign r.(?) p.(Arg109Trp) Unknown g.33110383G>A - GLB1:c.325C>T (R109W) - GLB1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.438_440del pathogenic r.(?) p.(Leu147del) Unknown g.33109739_33109741del - GLB1:c.438_440delTCT (L147del) - GLB1_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.458-11T>C benign r.(=) p.(=) Unknown g.33107060A>G - GLB1:NM_000404.3(GLB1):c.458-11T>C (?) - GLB1_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.601C>T pathogenic r.(?) p.(Arg201Cys) Unknown g.33099713G>A - GLB1:c.601C>T (R201C) - GLB1_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.601C>T pathogenic r.(?) p.(Arg201Cys) Unknown g.33099713G>A - GLB1:NM_000404.2:c.601C>T (Arg201Cys) - GLB1_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.632T>G VUS r.(?) p.(Leu211Arg) Unknown g.33099682A>C - GLB1:NM_000404.3:c.632T>G (Leu211Arg) - GLB1_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.699del - r.(?) p.(Gln234Argfs*20) Unknown g.33099615del - 699delG - GLB1_000008 - - - - Unknown - - - 0 - DNA SEQ - - - - - - ? - (Germany) - - 0 - - 1 IMGAG
-?/. - c.717G>A likely benign r.(=) p.(=) Unknown g.33099597C>T - GLB1:c.717G>A (=) - GLB1_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.787C>T pathogenic r.(?) p.(Pro263Ser) Unknown g.33094988G>A - GLB1:c.787C>T (P263S) - GLB1_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.808T>G - r.(?) p.(Tyr270Asp) Unknown g.33093481A>C - - - GLB1_000007 - - - - Unknown - - - 0 - DNA SEQ - - - - - - ? - (Germany) - - 0 - - 1 IMGAG
?/. - c.809A>G VUS r.(?) p.(Tyr270Cys) Unknown g.33093480T>C - GLB1:NM_000404.2:c.809A>G (Tyr270Cys) - GLB1_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.817_818delinsCT pathogenic r.(?) p.(Trp273Leu) Unknown g.33093471_33093472delinsAG - GLB1:c.817_818delTGinsCT (W273L) - GLB1_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.841C>T pathogenic r.(?) p.(His281Tyr) Unknown g.33093448G>A - GLB1:NM_000404.2:c.841C>T (His281Tyr) - GLB1_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1093A>G likely benign r.(?) p.(Ile365Val) Unknown g.33065793T>C - GLB1:NM_000404.2:c.1093A>G, NM_001079811.1:c.1003A>G, … - GLB1_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1233+8T>C benign r.(=) p.(=) Unknown g.33063050A>G - GLB1:c.1233+8T>C - GLB1_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1233+8T>C benign r.(=) p.(=) Unknown g.33063050A>G - GLB1:NM_000404.3(GLB1):c.1233+8T>C (?) - GLB1_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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