Unique variants in gene GLB1

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

75 entries on 1 page. Showing entries 1 - 75.
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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     
?/? 6 ? c.? VUS r.? p.? g.? - - - GLB1_000031 - - - - Unknown - - - - - -
-?/., ?/. 2 - c.8G>T likely benign, VUS r.(?) p.(Gly3Val) g.33138570C>A - GLB1(NM_000404.3):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-/., ?/. 71 - c.29C>T benign r.(?) p.(Pro10Leu) g.33138549G>A g.33097057G>A GLB1(NM_000404.3):c.29C>T (p.P10L) - GLB1_000061, GLB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Gerard C.P. Schaafsma, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 3 - c.34T>C benign r.(?) p.(=) g.33138544A>G - GLB1(NM_000404.3):c.34T>C (p.L12=) - GLB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.75+2dup likely pathogenic r.spl? p.? g.33138501dup - GLB1(NM_001317040.1):c.75+2dupT - GLB1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 1i c.75+2_75+3insT pathogenic (recessive) r.(?) p.? g.33138500_33138501insA - c.75+3_3insT - GLB1_000025 - PubMed: Chakraborty et al 1994 - - Unknown - - - - - -
?/. 1 - c.76-5388A>G - - p.(=) g.33119593T>C g.33078101T>C - - GLB1_000037 - - - - Germline - - - - - Yu Sun
?/. 1 - c.76-5137_76-5136insT - - p.(=) g.33119341_33119342insA g.33077849_33077850insA - - GLB1_000043 - - - - Germline - - - - - Yu Sun
?/. 2 - c.76-4971_76-4970insA - - p.(=) g.33119175_33119176insT g.33077683_33077684insT - - GLB1_000038 - - - - Germline - - - - - Yu Sun
?/. 2 - c.76-4841T>A - - p.(=) g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - - - Yu Sun
-/. 1 - c.76-4426C>T benign r.(=) p.(=) g.33118631G>A - GLB1(NM_000404.3):c.76-4426C>T - GLB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.76-4391G>A VUS r.(=) p.(=) g.33118596C>T - GLB1(NM_001317040.1):c.209G>A (p.R70Q) - GLB1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 2 c.145C>T pathogenic (recessive) r.(?) p.(Arg49Cys) g.33114136G>A - p.R49C - GLB1_000016 - PubMed: Nishimoto et al 1991 - - Unknown - - - - - -
?/. 1 - c.146G>A VUS r.(?) p.(Arg49His) g.33114135C>T - GLB1(NM_001317040.1):c.290G>A (p.R97H) - GLB1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 2 c.152T>C pathogenic (recessive) r.(?) p.(Ile51Thr) g.33114129A>G - p.I51T - GLB1_000027 - PubMed: Oshima et al 1991 - - Unknown - - - - - -
+/? 1 2 c.161G>T pathogenic (recessive) r.(?) p.(Ser54Ile) g.33114120C>A - p.S54I - GLB1_000012 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/., +/? 3 2 c.175C>T pathogenic, pathogenic (recessive) r.(?) p.(Arg59Cys) g.33114106G>A - GLB1(NM_000404.2):c.175C>T (p.Arg59Cys), p.R59C - GLB1_000013 VKGL data sharing initiative Nederland PubMed: Caciotti et al 2005 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/., +/? 5 2 c.176G>A pathogenic, pathogenic (recessive) r.(?) p.(Arg59His) g.33114105C>T - GLB1(NM_000404.3):c.176G>A (p.R59H), p.R59H - GLB1_000005 VKGL data sharing initiative Nederland PubMed: Silva et al 1999 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.206T>C VUS r.(?) p.(Leu69Pro) g.33114075A>G - GLB1(NM_001079811,NM_001135602,NM_000404):c.206T>C (p.Leu69Pro) - GLB1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.218A>G likely benign r.(?) p.(Lys73Arg) g.33114063T>C - GLB1(NM_000404.2):c.218A>G (p.(Lys73Arg), p.(Lys43Arg)) - GLB1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.235G>A VUS r.(?) p.(Ala79Thr) g.33114046C>T - GLB1(NM_000404.2):c.235G>A (p.(Ala79Thr), p.(Ala49Thr)) - GLB1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/? 2 2 c.245C>T pathogenic, pathogenic (recessive) r.(?) p.(Thr82Met) g.33114036G>A - GLB1():c.245C>T (p.Thr82Met), p.T82M - GLB1_000014 VKGL data sharing initiative Nederland PubMed: Chakraborty et al 1994 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL
+/. 1 - c.245+1G>A pathogenic r.spl? p.? g.33114035C>T - GLB1(NM_000404.3):c.245+1G>A - GLB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 3 c.276dup pathogenic (recessive) r.(?) p.(Pro93Alafs*8) g.33110432dup - c.276-277insG; p.P93AfsX7 - GLB1_000008 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/? 1 3 c.276G>A pathogenic (recessive) r.(?) p.(Trp92*) g.33110432C>T - p.W92X - GLB1_000024 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
-/. 1 - c.325C>T benign r.(?) p.(Arg109Trp) g.33110383G>A - GLB1(NM_000404.3):c.325C>T (p.R109W) - GLB1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 3 c.391G>A pathogenic (recessive) r.(?) p.(Glu131Lys) g.33110317C>T - p.E131K - GLB1_000017 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/? 1 4 c.428dup pathogenic (recessive) r.(?) p.(Ser144Valfs*43) g.33109751dup - c.428_429insA; p.S144VfsX42 - GLB1_000029 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/., +/? 2 4 c.438_440del pathogenic, pathogenic (recessive) r.(?) p.(Leu147del) g.33109743_33109745del, g.33109739_33109741del - GLB1(NM_000404.2):c.438_440delTCT (p.L147del), c.436_438delCTT; p.L146del - GLB1_000022 VKGL data sharing initiative Nederland PubMed: Higaki et al 2011 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL
+/. 1 - c.442C>A pathogenic r.(?) p.(Arg148Ser) g.33109737G>T - GLB1(NM_000404.2):c.442C>A (p.R148S) - GLB1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/? 2 4 c.442C>T VUS, pathogenic (recessive) r.(?) p.(Arg148Cys) g.33109737G>A - GLB1(NM_000404.2):c.442C>T (p.(Arg148Cys), p.(Arg118Cys)), p.R148C - GLB1_000003 VKGL data sharing initiative Nederland PubMed: Nishimoto et al 1991 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL
-/. 2 - c.458-11T>C benign r.(=) p.(=) g.33107060A>G - GLB1(NM_000404.3):c.458-11T>C (p.?) - GLB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.481T>G ACMG: 4 r.(?) p.(Trp161Gly) g.33107026A>C - - - GLB1_000080 1 more item - - rs398123355 Germline - - - - - Andreas Laner
+/? 1 5 c.542T>A pathogenic (recessive) r.(?) p.(Ile181Lys) g.33106965A>T - p.I81K - GLB1_000009 - PubMed: Hofer et al 2010 - - Unknown - - - - - -
+/? 3 6 c.569G>A pathogenic (recessive) r.(?) p.(Gly190Asp) g.33099745C>T - p.G190D - GLB1_000023 - PubMed: Hofer et al 2009 - - Unknown - - - - - -
+/., +/? 5 6 c.601C>T pathogenic, pathogenic (recessive) r.(?) p.(Arg201Cys) g.33099713G>A - GLB1(NM_000404.2):c.601C>T (p.Arg201Cys), p.R201C - GLB1_000010 VKGL data sharing initiative Nederland PubMed: Oshima et al 1991 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/?, +/. 3 6 c.602G>A pathogenic (recessive), pathogenic r.(?) p.(Arg201His) g.33099712C>T - p.R201H, GLB1(NM_000404.3):c.602G>A (p.R201H) - GLB1_000011, GLB1_000022 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record - - - - - VKGL-NL
+/., +/? 2 6 c.622C>T ACMG: 5, pathogenic (recessive) r.(?) p.(Arg208Cys) g.33099692G>A - p.R208C - GLB1_000004 1 more item PubMed: Boustany et al 1993 - rs72555366 Germline, Unknown - - - - - Andreas Laner
-?/. 2 - c.623G>A likely benign r.(?) p.(Arg208His) g.33099691C>T - GLB1(NM_000404.2):c.623G>A (p.(Arg208His), p.(Arg178His)) - GLB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.632T>G VUS r.(?) p.(Leu211Arg) g.33099682A>C - GLB1():c.632T>G (p.Leu211Arg) - GLB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.699del - r.(?) p.(Gln234Argfs*20) g.33099615del - 699delG - GLB1_000044 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.717G>A likely benign r.(?) p.(=) g.33099597C>T - GLB1(NM_000404.3):c.717G>A (p.T239=) - GLB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.787C>T pathogenic r.(?) p.(Pro263Ser) g.33094988G>A - GLB1(NM_000404.2):c.787C>T (p.P263S) - GLB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.792+10G>A likely benign r.(=) p.(=) g.33094973C>T - GLB1(NM_001317040.1):c.936+10G>A - GLB1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/? 2 8 c.808T>G pathogenic (recessive) r.(?) p.(Tyr270Asp) g.33093481A>C - p.Y270D - GLB1_000018 - PubMed: Paschke et al 2001 - - Unknown - - - - - IMGAG
?/. 1 - c.809A>G VUS r.(?) p.(Tyr270Cys) g.33093480T>C - GLB1(NM_000404.2):c.809A>G (p.Tyr270Cys) - GLB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.817_818delinsCT pathogenic r.(?) p.(Trp273Leu) g.33093471_33093472delinsAG - GLB1(NM_000404.2):c.817_818delTGinsCT (p.W273L) - GLB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +/? 2 8 c.841C>T pathogenic, pathogenic (recessive) r.(?) p.(His281Tyr) g.33093448G>A - GLB1(NM_000404.2):c.841C>T (p.His281Tyr), p.H281Y - GLB1_000026 VKGL data sharing initiative Nederland PubMed: Paschke et al 2001 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL
+/? 1 9 c.947A>G pathogenic (recessive) r.(?) p.(Tyr316Cys) g.33093258T>C - p.Y316C - GLB1_000028 - PubMed: Oshima et al 1991 - - Unknown - - - - - -
+/? 1 10 c.996C>G pathogenic (recessive) r.(?) p.(Asp332Glu) g.33087684G>C - p.D332E - GLB1_000006 - PubMed: Hofer et al 2009 - - Unknown - - - - - -
-?/. 1 - c.1032T>C likely benign r.(?) p.(=) g.33087648A>G - GLB1(NM_001317040.1):c.1176T>C (p.T392=) - GLB1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1093A>G likely benign r.(?) p.(Ile365Val) g.33065793T>C - GLB1(NM_000404.2):c.1093A>G (p.(Ile365Val), p.(Ile335Val), p.(Ile234Val)) - GLB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1095C>T likely benign r.(?) p.(=) g.33065791G>A - GLB1(NM_001317040.1):c.1239C>T (p.I413=) - GLB1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1233+8T>C benign r.(=) p.(=) g.33063050A>G - GLB1(NM_000404.3):c.1233+8T>C (p.?) - GLB1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/? 1 13 c.1259C>A pathogenic (recessive) r.(?) p.(Thr420Lys) g.33060028G>T - p.T420K - GLB1_000015 - PubMed: Santamaria et al 2006 - - Unknown - - - - - -
?/. 1 - c.1285C>T VUS r.(?) p.(Pro429Ser) g.33060002G>A - GLB1(NM_001317040.1):c.1429C>T (p.P477S) - GLB1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.1306C>T likely benign, benign r.(?) p.(Leu436Phe) g.33059981G>A - GLB1(NM_000404.3):c.1306C>T (p.L436F) - GLB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
+/. 1 - c.1321G>A pathogenic r.(?) p.(Asp441Asn) g.33059966C>T - GLB1(NM_000404.3):c.1321G>A (p.D441N) - GLB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 13 c.1343A>T pathogenic (recessive) r.(?) p.(Asp448Val) g.33059944T>A - p.D448V - GLB1_000019 - PubMed: Hofer et al 2010 - - Unknown - - - - - -
+/. 1 - c.1348-1G>C pathogenic r.spl? p.? g.33058333C>G - GLB1(NM_001317040.1):c.1492-1G>C - GLB1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1426C>T likely benign r.(?) p.(=) g.33058254G>A - GLB1(NM_001317040.1):c.1570C>T (p.L524=) - GLB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 14 c.1438A>G pathogenic (recessive) r.(?) p.(Met480Val) g.33058242T>C - p.M480V - GLB1_000001 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/? 1 14 c.1441G>T pathogenic (recessive) r.(?) p.(Gly481*) g.33058239C>A - p.G481X - GLB1_000030 - PubMed: Santamaria et al 2006 - - Unknown - - - - - -
?/., +/? 3 14 c.1445G>A VUS, pathogenic (recessive) r.(?) p.(Arg482His) g.33058235C>T - GLB1():c.1445G>A (p.Arg482His), p.R482H - GLB1_000002 VKGL data sharing initiative Nederland PubMed: Mosna et al 1992 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL
-?/. 1 - c.1530G>A likely benign r.(?) p.(=) g.33055752C>T - GLB1(NM_000404.3):c.1530G>A (p.T510=) - GLB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1561T>C benign r.(?) p.(Cys521Arg) g.33055721A>G - GLB1(NM_000404.3):c.1561T>C (p.C521R) - GLB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.1572G>C likely benign r.(?) p.(=) g.33055710C>G - GLB1(NM_000404.3):c.1572G>C (p.L524=) - GLB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 3 - c.1594A>G likely benign, benign r.(?) p.(Ser532Gly) g.33055688T>C - GLB1(NM_000404.3):c.1594A>G (p.S532G) - GLB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/? 1 15 c.1646C>T pathogenic (recessive) r.(?) p.(Pro549Leu) g.33055636G>A - p.P549L - GLB1_000007 - PubMed: Santamaria et al 2007 - - Unknown - - - - - -
-?/. 1 - c.1675C>T likely benign r.(?) p.(Pro559Ser) g.33055607G>A - GLB1(NM_001317040.1):c.1819C>T (p.P607S) - GLB1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1679G>A likely benign r.(?) p.(Ser560Asn) g.33055603C>T - GLB1(NM_000404.3):c.1679G>A (p.S560N) - GLB1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1733A>G likely pathogenic r.(?) p.(Lys578Arg) g.33055549T>C - GLB1(NM_000404.3):c.1733A>G (p.(Lys578Arg)) - GLB1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1735-5_1735-4dup likely benign r.spl? p.? g.33038850_33038851dup - GLB1(NM_000404.3):c.1735-5_1735-4dupTC - GLB1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/? 1 16 c.1746G>A pathogenic (recessive) r.(?) p.(Trp582*) g.33038825C>T - p.W582X - GLB1_000020 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/? 1 16 c.1820T>C pathogenic (recessive) r.(?) p.(Ile607Thr) g.33038751A>G - p.L608P; this position is not correct for the described nucleotide change - GLB1_000021 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
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