Unique variants in gene GLB1

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

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/., ?/. 70 - c.29C>T benign r.(?) p.(Pro10Leu) g.33138549G>A g.33097057G>A GLB1:c.29C>T (P10L), GLB1:NM_000404.2:c.29C>T (Pro10Leu) - GLB1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
-/. 3 - c.34T>C benign r.(=) p.(=) g.33138544A>G - GLB1:c.34T>C (=), GLB1:NM_000404.2:c.34T>C (=) - GLB1_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.75+3_75+4insT likely pathogenic r.spl? p.? g.33138499_33138500insA - GLB1:c.75+2_75+3insT - GLB1_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.76-5388A>G - - p.(=) g.33119593T>C g.33078101T>C - - GLB1_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.76-5137_76-5136insT - - p.(=) g.33119341_33119342insA g.33077849_33077850insA - - GLB1_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.76-4971_76-4970insA - - p.(=) g.33119175_33119176insT g.33077683_33077684insT - - GLB1_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.76-4841T>A - - p.(=) g.33119046A>T g.33077554A>T - - GLB1_000003 - - - - Germline - - - - - Yu Sun
-/. 1 - c.76-4426C>T benign r.(=) p.(=) g.33118631G>A - GLB1:c.76-4426C>T - GLB1_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.176G>A pathogenic r.(?) p.(Arg59His) g.33114105C>T - GLB1:NM_000404.3(GLB1):c.176G>A (Arg59His), GLB1:c.176G>A (R59H) - GLB1_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 - c.245+1G>A pathogenic r.spl? p.? g.33114035C>T - GLB1:c.245+1G>A - GLB1_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.325C>T benign r.(?) p.(Arg109Trp) g.33110383G>A - GLB1:c.325C>T (R109W) - GLB1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.438_440del pathogenic r.(?) p.(Leu147del) g.33109739_33109741del - GLB1:c.438_440delTCT (L147del) - GLB1_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.458-11T>C benign r.(=) p.(=) 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 - - - - - VKGL-NL_Nijmegen
+/. 2 - c.601C>T pathogenic r.(?) p.(Arg201Cys) g.33099713G>A - GLB1:c.601C>T (R201C), GLB1:NM_000404.2:c.601C>T (Arg201Cys) - GLB1_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.632T>G VUS r.(?) p.(Leu211Arg) 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 - - - - - VKGL-NL_Nijmegen
+/. 1 - c.699del - r.(?) p.(Gln234Argfs*20) g.33099615del - 699delG - GLB1_000008 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.717G>A likely benign r.(=) p.(=) g.33099597C>T - GLB1:c.717G>A (=) - GLB1_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.787C>T pathogenic r.(?) p.(Pro263Ser) g.33094988G>A - GLB1:c.787C>T (P263S) - GLB1_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.808T>G - r.(?) p.(Tyr270Asp) g.33093481A>C - - - GLB1_000007 - - - - Unknown - - - - - IMGAG
?/. 1 - c.809A>G VUS r.(?) p.(Tyr270Cys) 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 - - - - - VKGL-NL_Nijmegen
+/. 1 - c.817_818delinsCT pathogenic r.(?) p.(Trp273Leu) g.33093471_33093472delinsAG - GLB1:c.817_818delTGinsCT (W273L) - GLB1_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.841C>T pathogenic r.(?) p.(His281Tyr) 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 - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1093A>G likely benign r.(?) p.(Ile365Val) 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 - - - - - VKGL-NL_Leiden
-/. 2 - c.1233+8T>C benign r.(=) p.(=) g.33063050A>G - GLB1:c.1233+8T>C, GLB1:NM_000404.3(GLB1):c.1233+8T>C (?) - GLB1_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/., -/. 2 - c.1306C>T likely benign, benign r.(?) p.(Leu436Phe) g.33059981G>A - GLB1:NM_000404.2:c.1306C>T, NM_001079811.1:c.1216C>T, …, GLB1:c.1306C>T (L436F) - GLB1_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
+/. 1 - c.1321G>A pathogenic r.(?) p.(Asp441Asn) g.33059966C>T - GLB1:c.1321G>A (D441N) - GLB1_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1426C>T likely benign r.(=) p.(=) g.33058254G>A - GLB1:c.1570C>T (L524=) - GLB1_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1445G>A VUS r.(?) p.(Arg482His) g.33058235C>T - GLB1:NM_000404.3:c.1445G>A (Arg482His) - GLB1_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1530G>A likely benign r.(=) p.(=) g.33055752C>T - GLB1:c.1530G>A (T510=) - GLB1_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1561C>T benign - - g.33055721G>A - GLB1:NM_000404.3(GLB1):c.1561C>T (Arg521Cys) - GLB1_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.1561T>C benign r.(?) p.(Cys521Arg) g.33055721A>G - GLB1:c.1561T>C (C521R), GLB1:NM_000404.2:c.1561T>C (Cys521Arg) - GLB1_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.1572G>C likely benign r.(=) p.(=) g.33055710C>G - GLB1:c.1572G>C (L524=) - GLB1_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1594A>G benign r.(?) p.(Ser532Gly) g.33055688T>C - GLB1:c.1594A>G (S532G) - GLB1_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1735-4_1735-3insCT likely benign r.spl? p.? g.33038839_33038840insAG - GLB1:c.1735-5_1735-4dupTC - GLB1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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