Unique variants in gene GLA

Information The variants shown are described using the NM_000169.2 transcript reference sequence.

703 entries on 8 pages. Showing entries 1 - 100.
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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     
-?/. 1 - c.-5255G>A r.(?) p.(=) - - g.100668146C>T - HNRNPH2(NM_001032393.2):c.1170C>T (p.G390=) - HNRNPH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-5054G>A r.(?) p.(=) - likely benign g.100667945C>T g.101412957C>T HNRNPH2(NM_001032393.2):c.969C>T (p.P323=) - HNRNPH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-4854A>T r.(?) p.(=) - likely benign g.100667745T>A g.101412757T>A HNRNPH2(NM_001032393.2):c.769T>A (p.(Ser257Thr)) - HNRNPH2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.-4701G>A r.(?) p.(=) - pathogenic g.100667592C>T g.101412604C>T HNRNPH2(NM_019597.4):c.616C>T (p.(Arg206Trp)), HNRNPH2(NM_019597.5):c.616C>T (p.R206W) - HNRNPH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.-4695T>C r.(?) p.(=) - likely benign g.100667586A>G g.101412598A>G HNRNPH2(NM_019597.5):c.610A>G (p.M204V) - HNRNPH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 _1 c.-573C>G r.spl p.? - VUS g.100663464G>C g.101408476G>C - - GLA_000329 - PubMed: Wu 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-40G>C r.(?) p.(=) - likely benign g.100662931C>G g.101407943C>G - - HNRNPH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., +/. 4 1 c.-30G>A r.(?), r.spl p.(=) - benign, pathogenic g.100662921C>T g.101407933C>T GLA(NM_000169.2):c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland PubMed: Saifudeen 1995 - rs3027584 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Johan den Dunnen, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/. 4 - c.-12G>A r.(?) p.(=) - benign g.100662903C>T g.101407915C>T GLA(NM_000169.2):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.2):c.301-4021C>T - GLA_000702 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/., -?/. 4 - c.-10C>T r.(?) p.(=) - benign, likely benign g.100662901G>A g.101407913G>A GLA(NM_000169.2):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.2):c.301-4023G>A - GLA_000699 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.-8C>G r.(?) p.(=) - likely benign g.100662899G>C g.101407911G>C - - HNRNPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 34 ? c.? r.(?) p.(K213N, p.(K240A, p.(L120P, p.(L166G, p.(L311F, p.(L394R, p.(L3R, p.(L89K, p.(M187I, p.(M267L, 24 more items - pathogenic g.? - - - GLA_000150, GLA_000151, GLA_000154, GLA_000158, GLA_000172, GLA_000175, GLA_000176, GLA_000181, 26 more items - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.1A>G r.(?) p.0? - pathogenic g.100662891T>C g.101407903T>C M1V - GLA_000467 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.2T>A r.(?) p.0? - pathogenic g.100662890A>T g.101407902A>T M1K - GLA_000491 - Dobrovolny 2008, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.2T>C r.(?) p.0? - pathogenic g.100662890A>G g.101407902A>G M1T - GLA_000189 - PubMed: Eng 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.2T>G r.(?) p.0? - pathogenic g.100662890A>C g.101407902A>C M1R - GLA_000188 - PubMed: Shabbeer 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.3G>A r.(?) p.0? - pathogenic g.100662889C>T g.101407901C>T M1I - GLA_000187 - PubMed: Blanch 1996 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.8T>C r.(?) p.(Leu3Pro) - likely benign g.100662884A>G g.101407896A>G GLA(NM_000169.2):c.8T>C (p.L3P) - HNRNPH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 ? c.18del r.(?) p.(Glu7Asnfs*114) - pathogenic g.100662874del g.101407886del 18delA - GLA_000461 - PubMed: Shabbeer 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.19G>T r.(?) p.(Glu7*) - pathogenic g.100662873C>A g.101407885C>A - - GLA_000466 - Dobrovolny 2008, abstract - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.23T>A r.(?) p.(Leu8Gln) - likely benign g.100662869A>T g.101407881A>T GLA(NM_000169.2):c.23T>A (p.L8Q) - HNRNPH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.26del r.(?) p.(His9Leufs*112) - pathogenic g.100662866del g.101407878del 26delA - GLA_000480 - PubMed: Eng 1994 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.31G>C r.(?) p.(Gly11Arg) - VUS g.100662861C>G g.101407873C>G - - HNRNPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.32del r.(?) p.(Gly11Alafs*110) - pathogenic g.100662862del g.101407874del 32delG - GLA_000499 - PubMed: Ashton-Prolla 1999 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.33del r.(?) p.(Cys12Alafs*109) - VUS g.100662859del g.101407871del 33delC - GLA_000501 - PubMed: Batista 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.34_42del r.(?) p.(Cys12_Leu14del) - pathogenic g.100662850_100662858del g.101407862_101407870del 34_42delTGCGCGCTT - GLA_000502 - Chien 2009, HGOL - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.35_47del r.(?) p.(Cys12Phefs*105) - pathogenic g.100662848_100662860del g.101407860_101407872del 35_47delGCGCGCTTGCGCT - GLA_000503 - PubMed: Topaloglu 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.38C>G r.(?) p.(Ala13Gly) - pathogenic g.100662854G>C g.101407866G>C A13G - GLA_000012 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.41T>C r.(?) p.(Leu14Pro) - pathogenic g.100662851A>G g.101407863A>G - - GLA_000157 - PubMed: Tse 2003 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.44C>G r.(?) p.(Ala15Gly) - pathogenic g.100662848G>C g.101407860G>C - - GLA_000017 - PubMed: Koskenvuo 2009 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.47T>C r.(?) p.(Leu16Pro) - pathogenic g.100662845A>G g.101407857A>G - - GLA_000161 - PubMed: Garzuly 2005 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 3 - c.48T>G r.(?) p.(Leu16=) - likely benign g.100662844A>C g.101407856A>C GLA(NM_000169.2):c.48T>G (p.L16=) - GLA_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 2 1 c.53T>C r.(?) p.(Phe18Ser) - pathogenic g.100662839A>G g.101407851A>G GLA(NM_000169.2):c.53T>C (p.F18S) - GLA_000096 VKGL data sharing initiative Nederland PubMed: Auray-Blais 2008 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Global Variome, with Curator vacancy
+/. 1 4 c.56T>C r.(?) p.(Leu19Pro) - pathogenic g.100662836A>G g.101407848A>G - - GLA_000164 - PubMed: Teraguchi 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.58G>C r.(?) p.(Ala20Pro) - pathogenic g.100662834C>G g.101407846C>G - - GLA_000018 - PubMed: Nakao 1995 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.59_73del r.(?) p.(Ala20_Trp24del) - pathogenic g.100662821_100662835del g.101407833_101407847del 59_73delCCCTCGTTTCCTGGG - GLA_000547 - PubMed: Germain 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.70T>G r.(?) p.(Trp24Gly) - pathogenic g.100662822A>C g.101407834A>C - - GLA_000310 - PubMed: Kleinert 2009 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.79C>T r.(?) p.(Pro27Ser) - likely benign g.100662813G>A g.101407825G>A GLA(NM_000169.2):c.79C>T (p.(Pro27Ser)) - HNRNPH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 1 c.85dup r.(?) p.(Ala29Glyfs*2) - pathogenic g.100662810dup g.101407822dup 85dupG - GLA_000618 - PubMed: Ashley 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.92C>T r.(?) p.(Ala31Val) - pathogenic g.100662800G>A g.101407812G>A - - GLA_000027 - PubMed: Eng 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.95T>C r.(?) p.(Leu32Pro) - pathogenic g.100662797A>G g.101407809A>G - - GLA_000173 - PubMed: Madsen 1995 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 1 c.100A>G r.(?) p.(Asn34Asp) - pathogenic g.100662792T>C g.101407804T>C - - GLA_000672 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 ? c.101A>G r.(?) p.(Asn34Ser) - pathogenic g.100662791T>C g.101407803T>C - - GLA_000223 - PubMed: Eng 1993 - rs28935192 Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.102T>G r.(?) p.(Asn34Lys) - pathogenic g.100662790A>C g.101407802A>C - - GLA_000222 - PubMed: Shabbeer 2006 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.103G>A r.(?) p.(Gly35Arg) - pathogenic g.100662789C>T g.101407801C>T - - GLA_000126 - PubMed: Davies 1994 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.107T>C r.(?) p.(Leu36Ser) - pathogenic g.100662785A>G g.101407797A>G - - GLA_000174 - PubMed: Erdos 2008 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.108G>T r.(?) p.(Leu36Phe) - pathogenic g.100662784C>A g.101407796C>A - - GLA_000384 - PubMed: Pereira 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.109G>A r.(?) p.(Ala37Thr) - pathogenic g.100662783C>T g.101407795C>T - - GLA_000028 - PubMed: Sadick 2007 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.110C>T r.(?) p.(Ala37Val) - pathogenic g.100662782G>A g.101407794G>A - - GLA_000391 - PubMed: Nakamura 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.118C>G r.(?) p.(Pro40Ala) - pathogenic g.100662774G>C g.101407786G>C - - GLA_000237 - PubMed: Koskenvuo 2009 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.118C>T r.(?) p.(Pro40Ser) - pathogenic g.100662774G>A g.101407786G>A - - GLA_000239 - PubMed: Koide 1990 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 ? c.119C>A r.(?) p.(Pro40His) - VUS g.100662773G>T g.101407785G>T - - GLA_000424 - PubMed: Meng 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.119C>T r.(?) p.(Pro40Leu) - pathogenic g.100662773G>A g.101407785G>A - - GLA_000238 - PubMed: Ashton-Prolla 2000 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.120T>C r.(?) p.(Pro40=) - likely benign g.100662772A>G g.101407784A>G - - HNRNPH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 ? c.122C>T r.(?) p.(Thr41Ile) - pathogenic g.100662770G>A g.101407782G>A - - GLA_000296 - PubMed: Shabbeer 2006 - - Germline - - - - - Global Variome, with Curator vacancy
-/., -?/. 4 - c.123C>T r.(?) p.(Thr41=) - benign, likely benign g.100662769G>A g.101407781G>A GLA(NM_000169.2):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.2):c.301-4155G>A - GLA_000697 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+/. 1 ? c.123del r.(?) p.(Met42Trpfs*79) - pathogenic g.100662770del g.101407782del 123delC - GLA_000439 - PubMed: Burlina 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.123_126dup r.(?) p.(Gly43Hisfs*14) - pathogenic g.100662766_100662769dup g.101407778_101407781dup 123_126dupCATG - GLA_000436 - PubMed: Morrone 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.124A>C r.(?) p.(Met42Leu) - pathogenic g.100662768T>G g.101407780T>G - - GLA_000197 - PubMed: Rosenthal 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 2 ? c.124A>G r.(?) p.(Met42Val) - pathogenic g.100662768T>C g.101407780T>C GLA(NM_000169.2):c.124A>G (p.M42V) - GLA_000199 VKGL data sharing initiative Nederland PubMed: Davies 1996 - - Germline, CLASSIFICATION record - - - - - Global Variome, with Curator vacancy, VKGL-NL_Groningen
+/. 1 ? c.124_125del r.(?) p.(Met42Glyfs*13) - pathogenic g.100662767_100662768del g.101407779_101407780del 124_125delAT - GLA_000440 - PubMed: Ashley 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.125T>C r.(?) p.(Met42Thr) - pathogenic g.100662767A>G g.101407779A>G - - GLA_000198 - PubMed: Shabbeer 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.125T>G r.(?) p.(Met42Arg) - pathogenic g.100662767A>C g.101407779A>C - - GLA_000443 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.125_137del r.(?) p.(Met42Thrfs*75) - pathogenic g.100662757_100662769del g.101407769_101407781del 125_137delTGGGCTGGCTGCA - GLA_000442 - PubMed: Ishii 1991 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.127G>A r.(?) p.(Gly43Ser) - pathogenic g.100662765C>T g.101407777C>T - - GLA_000445 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.127G>C r.(?) p.(Gly43Arg) - pathogenic g.100662765C>G g.101407777C>G - - GLA_000129 - PubMed: Germain 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 - c.128del r.(?) p.(Gly43Alafs*78) - pathogenic g.100662766del g.101407778del - - GLA_000706 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs797044500 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. 1 ? c.128G>A r.(?) p.(Gly43Asp) - pathogenic g.100662764C>T g.101407776C>T - - GLA_000127 - Iga 2001, HGOL - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.128G>T r.(?) p.(Gly43Val) - pathogenic g.100662764C>A g.101407776C>A - - GLA_000130 - PubMed: Shabbeer 2002 - - Germline - - - - - Global Variome, with Curator vacancy
-/., -?/. 4 - c.129C>T r.(?) p.(Gly43=) - benign, likely benign g.100662763G>A g.101407775G>A GLA(NM_000169.2):c.129C>T (p.G43=) - GLA_000696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 ? c.131G>A r.(?) p.(Trp44*) - pathogenic g.100662761C>T g.101407773C>T - - GLA_000447 - PubMed: Sakuraba 1990 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.132G>T r.(?) p.(Trp44Cys) - pathogenic g.100662760C>A g.101407772C>A - - GLA_000315 - PubMed: Wang 2005 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.134_138delinsGCTCG r.(?) p.(Leu45_His46delinsArgSer) - pathogenic g.100662754_100662758delinsCGAGC g.101407766_101407770delinsCGAGC 134_138delTGCACinsGCTCG - GLA_000448 - PubMed: Eng 1997 - - Germline - - - - - Johan den Dunnen
+/. 2 ? c.136C>T r.(?) p.(His46Tyr) - pathogenic g.100662756G>A g.101407768G>A - - GLA_000137 VKGL data sharing initiative Nederland PubMed: Blaydon 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Global Variome, with Curator vacancy
+/. 1 ? c.137A>C r.(?) p.(His46Pro) - pathogenic g.100662755T>G g.101407767T>G - - GLA_000449 - PubMed: Hwu 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.137A>G r.(?) p.(His46Arg) - pathogenic g.100662755T>C g.101407767T>C - - GLA_000135 - PubMed: Eng 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.139T>G r.(?) p.(Trp47Gly) - pathogenic g.100662753A>C g.101407765A>C - - GLA_000316 - PubMed: Blaydon 2001 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.140G>A r.(?) p.(Trp47*) - pathogenic g.100662752C>T g.101407764C>T - - GLA_000450 - PubMed: Batista 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.140G>T r.(?) p.(Trp47Leu) - pathogenic g.100662752C>A g.101407764C>A - - GLA_000317 - Cooper 2000, HGOL - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.141G>A r.(?) p.(Trp47*) - pathogenic g.100662751C>T g.101407763C>T - - GLA_000451 - PubMed: Lee 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.142G>A r.(?) p.(Glu48Lys) - pathogenic g.100662750C>T g.101407762C>T - - GLA_000087 - PubMed: Rodriguez-Mari 2003 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.144G>T r.(?) p.(Glu48Asp) - pathogenic g.100662748C>A g.101407760C>A - - GLA_000452 - Kwan 2007, abstract - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.145C>A r.(?) p.(Arg49Ser) - pathogenic g.100662747G>T g.101407759G>T - - GLA_000273 - PubMed: Davies 1996 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 2 1, ? c.145C>G r.(?) p.(Arg49Gly) - pathogenic g.100662747G>C g.101407759G>C - - GLA_000270 - PubMed: Germain 2002 - - Germline - - - - - Paula Rozenfeld, Global Variome, with Curator vacancy
+/. 1 ? c.145C>T r.(?) p.(Arg49Cys) - pathogenic g.100662747G>A g.101407759G>A - - GLA_000269 - PubMed: Shin 2008 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.146G>C r.(?) p.(Arg49Pro) - pathogenic g.100662746C>G g.101407758C>G - - GLA_000272 - PubMed: Blaydon 2001 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.146G>T r.(?) p.(Arg49Leu) - pathogenic g.100662746C>A g.101407758C>A - - GLA_000271 - PubMed: Davies 1994 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.149T>G r.(?) p.(Phe50Cys) - pathogenic g.100662743A>C g.101407755A>C - - GLA_000102 - PubMed: Shabbeer 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.152T>A r.(?) p.(Met51Lys) - pathogenic g.100662740A>T g.101407752A>T - - GLA_000201 - PubMed: Ashley 2001 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.153G>A r.(?) p.(Met51Ile) - pathogenic g.100662739C>T g.101407751C>T - - GLA_000200 - PubMed: Spada 2006 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.154del r.(?) p.(Cys52Alafs*69) - pathogenic g.100662738del g.101407750del 154delT - GLA_000453 - PubMed: Blaydon 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.154T>C r.(?) p.(Cys52Arg) - pathogenic g.100662738A>G g.101407750A>G - - GLA_000045 - PubMed: Blanch 1996 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.155G>A r.(?) p.(Cys52Tyr) - pathogenic g.100662737C>T g.101407749C>T - - GLA_000454 - PubMed: Filoni 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 ? c.155G>C r.(?) p.(Cys52Ser) - pathogenic g.100662737C>G g.101407749C>G - - GLA_000046 - PubMed: Eng 1994 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.156C>A r.(?) p.(Cys52*) - pathogenic g.100662736G>T g.101407748G>T - - GLA_000455 - PubMed: Topaloglu 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.159C>G r.(?) p.(Asn53Lys) - pathogenic g.100662733G>C g.101407745G>C - - GLA_000652 - - - - Germline - - - - - Amelia Morrone
+/. 1 1 c.160C>T r.(?) p.(Leu54Phe) - pathogenic g.100662732G>A g.101407744G>A - - GLA_000671 - - - - Germline - - - - - Paula Rozenfeld
+/. 1 ? c.161T>C r.(?) p.(Leu54Pro) - pathogenic g.100662731A>G g.101407743A>G - - GLA_000179 - PubMed: Auray-Blais 2008 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 ? c.162del r.(?) p.(Asp55Thrfs*66) - pathogenic g.100662731del g.101407743del 162delT - GLA_000456 - PubMed: Schafer 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.164A>G r.(?) p.(Asp55Gly) - pathogenic g.100662728T>C g.101407740T>C - - GLA_000670 - - - - Germline - - - - - Paula Rozenfeld
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