Unique variants in gene GLB1

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

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Reported     

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     
?/? 6 ? c.? r.? p.? - VUS g.? - - - GLB1_000031 - - - - Unknown - - - - - -
?/. 1 - c.8G>T r.(?) p.(Gly3Val) - VUS g.33138570C>A g.33097078C>A GLB1(NM_000404.3):c.8G>T (p.G3V) - GLB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 71 - c.29C>T r.(?) p.(Pro10Leu) - benign 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 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/., +/? 2 1i c.75+2dup r.spl? p.? - likely pathogenic, pathogenic (recessive) g.33138501dup g.33097009dup GLB1(NM_001317040.1):c.75+2dupT, c.75+3_3insT - GLB1_000078, GLB1_000025 VKGL data sharing initiative Nederland PubMed: Chakraborty et al 1994 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam
?/. 1 - c.76-5388A>G r.(=) p.(=) - - g.33119593T>C g.33078101T>C - - GLB1_000037 - - - - Germline - - - - - Yu Sun
?/. 1 - c.76-5137dup r.(=) p.(=) - - g.33119351dup g.33077859dup - - GLB1_000043 - - - - Germline - - - - - Yu Sun
?/. 2 - c.76-4971dup r.(=) p.(=) - - g.33119187dup g.33077695dup - - GLB1_000038 - - - - Germline - - - - - Yu Sun
?/. 2 - c.76-4841T>A r.(=) p.(=) - - g.33119046A>T g.33077554A>T - - GLB1_000042 - - - - Germline - - - - - Yu Sun
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Groningen
?/. 1 - 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
+/? 1 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 - - - - - -
?/. 1 - 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
+/? 1 2 c.152T>C r.(?) p.(Ile51Thr) - pathogenic (recessive) g.33114129A>G g.33072637A>G p.I51T - GLB1_000027 - PubMed: Oshima et al 1991 - - Unknown - - - - - -
+/? 1 2 c.161G>T r.(?) p.(Ser54Ile) - pathogenic (recessive) g.33114120C>A g.33072628C>A p.S54I - GLB1_000012 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/., +/? 3 2 c.175C>T r.(?) p.(Arg59Cys) - pathogenic, pathogenic (recessive) g.33114106G>A g.33072614G>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 r.(?) p.(Arg59His) - pathogenic, pathogenic (recessive) g.33114105C>T g.33072613C>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.203G>A r.(?) p.(Arg68Gln) - - g.33114078C>T g.33072586C>T - - GLB1_000088 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs572237881 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.206T>C r.(?) p.(Leu69Pro) - VUS g.33114075A>G g.33072583A>G - - GLB1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.235G>A r.(?) p.(Ala79Thr) - VUS g.33114046C>T g.33072554C>T GLB1(NM_000404.2):c.235G>A (p.(Ala79Thr)) - GLB1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., +/? 2 2 c.245C>T r.(?) p.(Thr82Met) - likely pathogenic, pathogenic (recessive) g.33114036G>A g.33072544G>A p.T82M - GLB1_000014 VKGL data sharing initiative Nederland PubMed: Chakraborty et al 1994 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+/. 1 - c.245+1G>A r.spl? p.? - pathogenic g.33114035C>T g.33072543C>T GLB1(NM_000404.3):c.245+1G>A - GLB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 3 c.276dup r.(?) p.(Pro93Alafs*8) - pathogenic (recessive) g.33110433dup g.33068941dup c.276-277insG; p.P93AfsX7 - GLB1_000008 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/? 1 3 c.276G>A r.(?) p.(Trp92*) - pathogenic (recessive) g.33110432C>T g.33068940C>T p.W92X - GLB1_000024 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
-?/., -/. 2 - c.325C>T r.(?) p.(Arg109Trp) - benign g.33110383G>A g.33068891G>A GLB1(NM_000404.3):c.325C>T (p.R109W) - GLB1_000056 17 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs35289681 Germline, CLASSIFICATION record - 17/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
+/? 1 3 c.391G>A r.(?) p.(Glu131Lys) - pathogenic (recessive) g.33110317C>T g.33068825C>T p.E131K - GLB1_000017 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
?/. 1 - c.424A>G r.(?) p.(Lys142Glu) - VUS g.33109755T>C g.33068263T>C - - GLB1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 4 c.428dup r.(?) p.(Ser144Valfs*43) - pathogenic (recessive) g.33109751dup g.33068259dup c.428_429insA; p.S144VfsX42 - GLB1_000029 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/., +/? 2 4 c.438_440del r.(?) p.(Leu147del) - pathogenic, pathogenic (recessive) g.33109743_33109745del g.33068251_33068253del GLB1(NM_000404.3):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_Rotterdam
+/. 1 - c.442C>A r.(?) p.(Arg148Ser) - pathogenic g.33109737G>T g.33068245G>T GLB1(NM_000404.3):c.442C>A (p.R148S) - GLB1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 4 c.442C>T r.(?) p.(Arg148Cys) - pathogenic (recessive) g.33109737G>A g.33068245G>A p.R148C - GLB1_000003 - PubMed: Nishimoto et al 1991 - - Unknown - - - - - -
-/. 2 - c.458-11T>C r.(=) p.(=) - benign g.33107060A>G g.33065568A>G GLB1(NM_000404.3):c.458-11T>C - GLB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.481T>G r.(?) p.(Trp161Gly) ACMG likely pathogenic g.33107026A>C g.33065534A>C - - GLB1_000080 1 more item - - rs398123355 Germline - - - - - Andreas Laner
+/? 1 5 c.542T>A r.(?) p.(Ile181Lys) - pathogenic (recessive) g.33106965A>T g.33065473A>T p.I81K - GLB1_000009 - PubMed: Hofer et al 2010 - - Unknown - - - - - -
+/? 3 6 c.569G>A r.(?) p.(Gly190Asp) - pathogenic (recessive) g.33099745C>T g.33058253C>T p.G190D - GLB1_000023 - PubMed: Hofer et al 2009 - - Unknown - - - - - -
+/., +/? 5 6 c.601C>T r.(?) p.(Arg201Cys) - pathogenic, pathogenic (recessive) g.33099713G>A g.33058221G>A GLB1(NM_000404.3):c.601C>T (p.R201C), 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 r.(?) p.(Arg201His) - pathogenic (recessive), pathogenic g.33099712C>T g.33058220C>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_Groningen
+/., +/? 2 6 c.622C>T r.(?) p.(Arg208Cys) ACMG pathogenic, pathogenic (recessive) g.33099692G>A g.33058200G>A p.R208C - GLB1_000004 1 more item PubMed: Boustany et al 1993 - rs72555366 Germline, Unknown - - - - - Andreas Laner
-?/. 2 - c.623G>A r.(?) p.(Arg208His) - likely benign g.33099691C>T g.33058199C>T GLB1(NM_000404.2):c.623G>A (p.(Arg208His)), GLB1(NM_001317040.1):c.767G>A (p.R256H) - GLB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.632T>G r.(?) p.(Leu211Arg) - VUS g.33099682A>C g.33058190A>C - - GLB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.699del r.(?) p.(Gln234Argfs*20) - pathogenic g.33099615del g.33058123del 699delG - GLB1_000044 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.717G>A r.(?) p.(Thr239=) - likely benign g.33099597C>T g.33058105C>T GLB1(NM_000404.3):c.717G>A (p.T239=) - GLB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.787C>T r.(?) p.(Pro263Ser) - pathogenic g.33094988G>A g.33053496G>A GLB1(NM_000404.3):c.787C>T (p.P263S) - GLB1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.792+10G>A r.(=) p.(=) - likely benign g.33094973C>T g.33053481C>T GLB1(NM_001317040.1):c.936+10G>A - GLB1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/? 2 8 c.808T>G r.(?) p.(Tyr270Asp) - pathogenic, pathogenic (recessive) g.33093481A>C g.33051989A>C p.Y270D - GLB1_000018 - PubMed: Paschke et al 2001 - - Unknown - - - - - IMGAG
?/. 1 - c.809A>G r.(?) p.(Tyr270Cys) - VUS g.33093480T>C g.33051988T>C - - GLB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.817_818delinsCT r.(?) p.(Trp273Leu) - pathogenic g.33093471_33093472delinsAG g.33051979_33051980delinsAG GLB1(NM_000404.3):c.817_818delTGinsCT (p.W273L) - GLB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.818G>T r.(?) p.(Trp273Leu) - - g.33093471C>A g.33051979C>A - - GLB1_000087 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs72555362 Germline - 1/2795 individuals - - - Mohammed Faruq
+/., +/? 2 8 c.841C>T r.(?) p.(His281Tyr) - pathogenic, pathogenic (recessive) g.33093448G>A g.33051956G>A p.H281Y - GLB1_000026 VKGL data sharing initiative Nederland PubMed: Paschke et al 2001 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+/? 1 9 c.947A>G r.(?) p.(Tyr316Cys) - pathogenic (recessive) g.33093258T>C g.33051766T>C p.Y316C - GLB1_000028 - PubMed: Oshima et al 1991 - - Unknown - - - - - -
+/? 1 10 c.996C>G r.(?) p.(Asp332Glu) - pathogenic (recessive) g.33087684G>C g.33046192G>C p.D332E - GLB1_000006 - PubMed: Hofer et al 2009 - - Unknown - - - - - -
-?/. 1 - c.1032T>C r.(?) p.(Thr344=) - likely benign g.33087648A>G g.33046156A>G GLB1(NM_001317040.1):c.1176T>C (p.T392=) - GLB1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1052G>A r.(?) p.(Arg351Gln) - VUS g.33087628C>T g.33046136C>T GLB1(NM_001317040.1):c.1196G>A (p.R399Q) - GLB1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1095C>T r.(?) p.(Ile365=) - likely benign g.33065791G>A g.33024299G>A GLB1(NM_001317040.1):c.1239C>T (p.I413=) - GLB1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1233+8T>C r.(=) p.(=) - benign g.33063050A>G g.33021558A>G GLB1(NM_000404.3):c.1233+8T>C - GLB1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/? 1 13 c.1259C>A r.(?) p.(Thr420Lys) - pathogenic (recessive) g.33060028G>T g.33018536G>T p.T420K - GLB1_000015 - PubMed: Santamaria et al 2006 - - Unknown - - - - - -
?/. 1 - c.1285C>T r.(?) p.(Pro429Ser) - VUS g.33060002G>A g.33018510G>A GLB1(NM_001317040.1):c.1429C>T (p.P477S) - GLB1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 3 - c.1306C>T r.(?) p.(Leu436Phe) - likely benign, benign g.33059981G>A g.33018489G>A GLB1(NM_000404.2):c.1306C>T (p.(Leu436Phe)), GLB1(NM_000404.3):c.1306C>T (p.L436F) - GLB1_000051 VKGL data sharing initiative Nederland, 19 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34421970 CLASSIFICATION record, Germline - 19/2794 individuals - - - VKGL-NL_Leiden, Mohammed Faruq, VKGL-NL_Utrecht
-?/. 1 - c.1310A>G r.(?) p.(Asn437Ser) - - g.33059977T>C g.33018485T>C - - GLB1_000086 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs202237232 Germline - 1/2794 individuals - - - Mohammed Faruq
+/. 1 - c.1321G>A r.(?) p.(Asp441Asn) - pathogenic g.33059966C>T g.33018474C>T GLB1(NM_000404.3):c.1321G>A (p.D441N) - GLB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 13 c.1343A>T r.(?) p.(Asp448Val) - pathogenic (recessive) g.33059944T>A g.33018452T>A p.D448V - GLB1_000019 - PubMed: Hofer et al 2010 - - Unknown - - - - - -
+/. 1 - c.1348-1G>C r.spl? p.? - pathogenic g.33058333C>G g.33016841C>G GLB1(NM_001317040.1):c.1492-1G>C - GLB1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1426C>T r.(?) p.(Leu476=) - likely benign g.33058254G>A g.33016762G>A GLB1(NM_001317040.1):c.1570C>T (p.L524=) - GLB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 14 c.1438A>G r.(?) p.(Met480Val) - pathogenic (recessive) g.33058242T>C g.33016750T>C p.M480V - GLB1_000001 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+/? 1 14 c.1441G>T r.(?) p.(Gly481*) - pathogenic (recessive) g.33058239C>A g.33016747C>A p.G481X - GLB1_000030 - PubMed: Santamaria et al 2006 - - Unknown - - - - - -
?/., +/? 3 14 c.1445G>A r.(?) p.(Arg482His) - VUS, pathogenic (recessive) g.33058235C>T g.33016743C>T p.R482H - GLB1_000002 VKGL data sharing initiative Nederland PubMed: Mosna et al 1992 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1530G>A r.(?) p.(Thr510=) - likely benign g.33055752C>T g.33014260C>T GLB1(NM_000404.3):c.1530G>A (p.T510=) - GLB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1561= r.(=) p.(Arg521=) - benign g.33055721A>G g.33014229A>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 r.(?) p.(Leu524=) - likely benign g.33055710C>G g.33014218C>G GLB1(NM_000404.3):c.1572G>C (p.L524=) - GLB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 4 - c.1594A>G r.(?) p.(Ser532Gly) - likely benign, benign g.33055688T>C g.33014196T>C GLB1(NM_000404.2):c.1594A>G (p.(Ser532Gly)), 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, VKGL-NL_Nijmegen
-?/. 1 - c.1644C>G r.(?) p.(Leu548=) - likely benign g.33055638G>C g.33014146G>C GLB1(NM_001317040.1):c.1788C>G (p.L596=) - GLB1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 15 c.1646C>T r.(?) p.(Pro549Leu) - pathogenic (recessive) g.33055636G>A g.33014144G>A p.P549L - GLB1_000007 - PubMed: Santamaria et al 2007 - - Unknown - - - - - -
-?/. 1 - c.1675C>T r.(?) p.(Pro559Ser) - likely benign g.33055607G>A g.33014115G>A GLB1(NM_001317040.1):c.1819C>T (p.P607S) - GLB1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1679G>A r.(?) p.(Ser560Asn) - likely benign g.33055603C>T g.33014111C>T GLB1(NM_000404.3):c.1679G>A (p.S560N) - GLB1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1733A>G r.(?) p.(Lys578Arg) - likely pathogenic g.33055549T>C g.33014057T>C - - GLB1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1735-5_1735-4dup r.spl? p.? - likely benign g.33038850_33038851dup g.32997358_32997359dup GLB1(NM_000404.3):c.1735-5_1735-4dupTC - GLB1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 16 c.1746G>A r.(?) p.(Trp582*) - pathogenic (recessive) g.33038825C>T g.32997333C>T p.W582X - GLB1_000020 - PubMed: Higaki et al 2011 - - Unknown - - - - - -
+?/. 1 - c.1746G>T r.(?) p.(Trp582Cys) - likely pathogenic g.33038825C>A g.32997333C>A - - GLB1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1769G>A r.(?) p.(Arg590His) - - g.33038802C>T g.32997310C>T - - GLB1_000085 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123351 Germline - 1/2794 individuals - - - Mohammed Faruq
+/? 1 16 c.1820T>C r.(?) p.(Ile607Thr) - pathogenic (recessive) g.33038751A>G g.32997259A>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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