All variants in the GLB1 gene

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

227 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - 0 - LOVD
?/? ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - 0 - LOVD
?/? ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - 0 - LOVD
?/? ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - 0 - LOVD
?/? ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - 0 - LOVD
?/? ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - 0 - LOVD
?/. 1 c.2T>C r.(?) p.0? - VUS g.33138576A>G - - - GLB1_000104 - Tebani et al. 2020, submitted - - Germline/De novo (untested) - - - 0 - Sarah Snanoudj
-?/. - c.8G>T r.(?) p.(Gly3Val) - likely benign g.33138570C>A g.33097078C>A GLB1(NM_000404.2):c.8G>T (p.(Gly3Val)), GLB1(NM_000404.3):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.8G>T r.(?) p.(Gly3Val) - VUS g.33138570C>A g.33097078C>A GLB1(NM_000404.2):c.8G>T (p.(Gly3Val)), GLB1(NM_000404.3):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.29C>T r.(?) p.(Pro10Leu) - VUS g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
-/. - c.29C>T r.(?) p.(Pro10Leu) - benign g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.29C>T r.(?) p.(Pro10Leu) - benign g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.29C>T r.(?) p.(Pro10Leu) - benign g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.31C>G r.(?) p.(Leu11Val) - likely benign g.33138547G>C - GLB1(NM_001317040.1):c.31C>G (p.L11V) - GLB1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.34T>C r.(?) p.(Leu12=) - benign g.33138544A>G g.33097052A>G GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.34T>C r.(?) p.(Leu12=) - benign g.33138544A>G g.33097052A>G GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.34T>C r.(?) p.(Leu12=) - benign g.33138544A>G g.33097052A>G GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 1i c.75+2dup r.spl? p.? - pathogenic (recessive) g.33138501dup g.33097009dup c.75+3_3insT - GLB1_000025 - PubMed: Chakraborty et al 1994 - - Unknown - - - 0 - LOVD
+?/. - c.75+2dup r.spl? p.? - likely pathogenic g.33138501dup g.33097009dup GLB1(NM_001317040.1):c.75+2dupT - GLB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 c.75+2dup r.spl? p.? - VUS g.33138501dup - - - GLB1_000025 - Chakraborty et al. 1994 - - Germline - - - 0 - Sarah Snanoudj
?/. - c.76-5388A>G r.(=) p.(=) - VUS g.33119593T>C g.33078101T>C - - GLB1_000037 - - - - Germline - - - 0 - Yu Sun
?/. - c.76-5137dup r.(=) p.(=) - VUS g.33119351dup g.33077859dup - - GLB1_000043 - - - - Germline - - - 0 - Yu Sun
?/. - c.76-4971dup r.(=) p.(=) - VUS g.33119187dup g.33077695dup - - GLB1_000038 - - - - Germline - - - 0 - Yu Sun
?/. - c.76-4971dup r.(=) p.(=) - VUS g.33119187dup g.33077695dup - - GLB1_000038 - - - - Germline - - - 0 - Yu Sun
?/. - c.76-4841T>A r.(=) p.(=) - VUS g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - 0 - Yu Sun
?/. - c.76-4841T>A r.(=) p.(=) - VUS g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - 0 - Yu Sun
-?/. - c.76-4537T>C r.(=) p.(=) - likely benign g.33118742A>G g.33077250A>G - - GLB1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.76-4426C>T r.(=) p.(=) - benign g.33118631G>A g.33077139G>A GLB1(NM_000404.3):c.76-4426C>T - GLB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.76-4391G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
+/? 2 c.145C>T r.(?) p.(Arg49Cys) - pathogenic (recessive) g.33114136G>A g.33072644G>A p.R49C - GLB1_000016 - PubMed: Nishimoto et al 1991 - - Unknown - - - 0 - LOVD
+/. 2 c.145C>T r.(?) p.(Arg49Cys) - pathogenic g.33114136G>A g.33072644G>A - - GLB1_000016 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. - c.146G>A r.(?) p.(Arg49His) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 2 c.149A>G r.(?) p.(Tyr50Cys) ACMG likely pathogenic (recessive) g.33114132T>C - - - GLB1_000099 - Tebani et al. 2020, submitted - - Germline - - - 0 - Sarah Snanoudj
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