All transcript variants in gene GLA

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

771 entries on 8 pages. Showing entries 1 - 100.
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Effect     

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     
?/. _1 c.-573C>G - r.spl p.? g.100663464G>C g.101408476G>C - - GLA_000329 - PubMed: Wu 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-30G>A - r.spl p.? g.100662921C>T g.101407933C>T - - GLA_000328 - PubMed: Saifudeen 1995 - rs3027584 Germline - - - 0 - Johan den Dunnen
-/. - c.-30G>A benign r.(=) p.(=) g.100662921C>T - GLA:c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-30G>A benign r.(=) p.(=) g.100662921C>T - GLA:c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-12C>T benign - - g.100662903G>A - GLA:c.-12C>T - GLA_000701 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-12G>A benign r.(=) p.(=) g.100662903C>T - GLA:c.-12G>A - GLA_000702 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-12G>A benign r.(=) p.(=) g.100662903C>T - GLA:c.-12G>A - GLA_000702 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-12G>A benign r.(=) p.(=) g.100662903C>T - GLA:c.-12G>A - GLA_000702 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-12G>A benign r.(=) p.(=) g.100662903C>T - RPL36A-HNRNPH2:c.409-4021C>T - GLA_000702 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-10C>T benign r.(=) p.(=) g.100662901G>A - GLA:c.-10C>T - GLA_000699 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-10C>T benign r.(=) p.(=) g.100662901G>A - GLA:c.-10C>T - GLA_000699 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-10C>T benign r.(=) p.(=) g.100662901G>A - GLA:c.-10C>T - GLA_000699 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-10C>T benign r.(=) p.(=) g.100662901G>A - RPL36A-HNRNPH2:c.409-4023G>A - GLA_000699 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-10G>A benign - - g.100662901C>T - GLA:c.-10G>A - GLA_000700 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. ? c.? - r.(?) p.(E66D g.? - - - GLA_000089 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(F273K g.? - - - GLA_000098 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(F396Y g.? - - - GLA_000101 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(G132T g.? - - - GLA_000105 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(G43F g.? - - - GLA_000128 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(G85N g.? - - - GLA_000132 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(H46S g.? - - - GLA_000136 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(I219N g.? - - - GLA_000138 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(K213N g.? - - - GLA_000150 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(K240A g.? - - - GLA_000151 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(L120P g.? - - - GLA_000154 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(L166G g.? - - - GLA_000158 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(L311F g.? - - - GLA_000172 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(L394R g.? - - - GLA_000175 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(L3R g.? - - - GLA_000176 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(L89K g.? - - - GLA_000181 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(M187I g.? - - - GLA_000184 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(M267L g.? - - - GLA_000191 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(N192Q g.? - - - GLA_000206 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(N215H g.? - - - GLA_000207 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(N278E g.? - - - GLA_000214 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(N278S g.? - - - GLA_000215 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(P409A g.? - - - GLA_000235 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(P409D g.? - - - GLA_000236 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(P40T g.? - - - GLA_000240 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(Q280S g.? - - - GLA_000249 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(Q57L g.? - - - GLA_000258 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(S276C g.? - - - GLA_000284 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(S65A g.? - - - GLA_000289 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(S65T g.? - - - GLA_000290 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(V22P g.? - - - GLA_000298 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(V281R g.? - - - GLA_000301 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(W277L g.? - - - GLA_000312 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.? - r.(?) p.(Y123M g.? - - - GLA_000321 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.1A>G - r.? p.0? g.100662891T>C g.101407903T>C M1V - GLA_000467 - Kwan 2007, abstract - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>A - r.? p.0? g.100662890A>T g.101407902A>T M1K - GLA_000491 - Dobrovolny 2008, abstract - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C - r.(?) p.0? g.100662890A>G g.101407902A>G M1T - GLA_000189 - PubMed: Eng 1997 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.2T>G - r.(?) p.0? g.100662890A>C g.101407902A>C M1R - GLA_000188 - PubMed: Shabbeer 2002 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.3G>A - r.(?) p.0? g.100662889C>T g.101407901C>T M1I - GLA_000187 - PubMed: Blanch 1996 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.18delA - r.? p.(Glu7Asnfs*114) g.100662874delT g.101407886delT 18delA - GLA_000461 - PubMed: Shabbeer 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.19G>T - r.? p.(Glu7*) g.100662873C>A g.101407885C>A - - GLA_000466 - Dobrovolny 2008, abstract - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.26delA - r.? p.(His9Leufs*112) g.100662866delT g.101407878delT 26delA - GLA_000480 - PubMed: Eng 1994 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.32delG - r.? p.(Gly11Alafs*110) g.100662860delC g.101407872delC 32delG - GLA_000499 - PubMed: Ashton-Prolla 1999 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.33delC - r.? p.(Cys12Alafs*109) g.100662859delG g.101407871delG 33delC - GLA_000501 - PubMed: Batista 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.34_42del - r.? p.(Cys12_Leu14del) g.100662850_100662858del g.101407862_101407870del 34_42delTGCGCGCTT - GLA_000502 - Chien 2009, HGOL - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.35_47del - r.? p.(Cys12Phefs*105) g.100662845_100662857del g.101407857_101407869del 35_47delGCGCGCTTGCGCT - GLA_000503 - PubMed: Topaloglu 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.38C>G - r.(?) p.(Ala13Gly) g.100662854G>C g.101407866G>C A13G - GLA_000012 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.41T>C - r.(?) p.(Leu14Pro) g.100662851A>G g.101407863A>G - - GLA_000157 - PubMed: Tse 2003 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.44C>G - r.(?) p.(Ala15Gly) g.100662848G>C g.101407860G>C - - GLA_000017 - PubMed: Koskenvuo 2009 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.47T>C - r.(?) p.(Leu16Pro) g.100662845A>G g.101407857A>G - - GLA_000161 - PubMed: Garzuly 2005 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.48T>G likely benign r.(=) p.(=) g.100662844A>C - GLA:c.48T>G (=) - GLA_000698 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 1 c.53T>C - r.(?) p.(Phe18Ser) g.100662839A>G g.101407851A>G - - GLA_000096 - PubMed: Auray-Blais 2008 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. - c.53T>C pathogenic r.(?) p.(Phe18Ser) g.100662839A>G - GLA:c.53T>C (F18S) - GLA_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 4 c.56T>C - r.(?) p.(Leu19Pro) g.100662836A>G g.101407848A>G - - GLA_000164 - PubMed: Teraguchi 2004 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.58G>C - r.(?) p.(Ala20Pro) g.100662834C>G g.101407846C>G - - GLA_000018 - PubMed: Nakao 1995 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.59_73del - r.? p.(Ala20_Trp24del) g.100662819_100662833del g.101407831_101407845del 59_73delCCCTCGTTTCCTGGG - GLA_000547 - PubMed: Germain 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.70T>G - r.(?) p.(Trp24Gly) g.100662822A>C g.101407834A>C - - GLA_000310 - PubMed: Kleinert 2009 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.85dupG - r.? p.(Ala29Glyfs*2) g.100662807dupC g.101407819dupC 85dupG - GLA_000618 - PubMed: Ashley 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.92C>T - r.(?) p.(Ala31Val) g.100662800G>A g.101407812G>A - - GLA_000027 - PubMed: Eng 1997 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.95T>C - r.(?) p.(Leu32Pro) g.100662797A>G g.101407809A>G - - GLA_000173 - PubMed: Madsen 1995 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. 1 c.100A>G - r.(?) p.(Asn34Asp) g.100662792T>C g.101407804T>C - - GLA_000672 - - - - Germline - - - 0 - Paula Rozenfeld
+/. ? c.101A>G - r.(?) p.(Asn34Ser) g.100662791T>C g.101407803T>C - - GLA_000223 - PubMed: Eng 1993 - rs28935192 Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.102T>G - r.(?) p.(Asn34Lys) g.100662790A>C g.101407802A>C - - GLA_000222 - PubMed: Shabbeer 2006 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.103G>A - r.(?) p.(Gly35Arg) g.100662789C>T g.101407801C>T - - GLA_000126 - PubMed: Davies 1994 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.107T>C - r.(?) p.(Leu36Ser) g.100662785A>G g.101407797A>G - - GLA_000174 - PubMed: Erdos 2008 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.108G>T - r.? p.(Leu36Phe) g.100662784C>A g.101407796C>A - - GLA_000384 - PubMed: Pereira 2007 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.109G>A - r.(?) p.(Ala37Thr) g.100662783C>T g.101407795C>T - - GLA_000028 - PubMed: Sadick 2007 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.110C>T - r.? p.(Ala37Val) g.100662782G>A g.101407794G>A - - GLA_000391 - PubMed: Nakamura 2010 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.118C>G - r.(?) p.(Pro40Ala) g.100662774G>C g.101407786G>C - - GLA_000237 - PubMed: Koskenvuo 2009 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.118C>T - r.(?) p.(Pro40Ser) g.100662774G>A g.101407786G>A - - GLA_000239 - PubMed: Koide 1990 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
?/. ? c.119C>A - r.? p.(Pro40His) g.100662773G>T g.101407785G>T - - GLA_000424 - PubMed: Meng 2010 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.119C>T - r.(?) p.(Pro40Leu) g.100662773G>A g.101407785G>A - - GLA_000238 - PubMed: Ashton-Prolla 2000 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.122C>T - r.(?) p.(Thr41Ile) g.100662770G>A g.101407782G>A - - GLA_000296 - PubMed: Shabbeer 2006 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
-?/. - c.123C>T likely benign r.(=) p.(=) g.100662769G>A - GLA:c.123C>T (=) - GLA_000697 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.123C>T likely benign r.(=) p.(=) g.100662769G>A - GLA:c.123C>T (=) - GLA_000697 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. ? c.123delC - r.? p.(Met42Trpfs*79) g.100662769delG g.101407781delG 123delC - GLA_000439 - PubMed: Burlina 2008 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.123_126dup - r.? p.(Gly43Hisfs*14) g.100662766_100662769dup g.101407778_101407781dup 123_126dupCATG - GLA_000436 - PubMed: Morrone 2003 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.124A>C - r.(?) p.(Met42Leu) g.100662768T>G g.101407780T>G - - GLA_000197 - PubMed: Rosenthal 2004 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.124A>G - r.(?) p.(Met42Val) g.100662768T>C g.101407780T>C - - GLA_000199 - PubMed: Davies 1996 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.124_125del - r.? p.(Met42Glyfs*13) g.100662767_100662768del g.101407779_101407780del 124_125delAT - GLA_000440 - PubMed: Ashley 2001 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.125T>C - r.(?) p.(Met42Thr) g.100662767A>G g.101407779A>G - - GLA_000198 - PubMed: Shabbeer 2002 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.125T>G - r.? p.(Met42Arg) g.100662767A>C g.101407779A>C - - GLA_000443 - Kwan 2007, abstract - - Germline - - - 0 - Johan den Dunnen
+/. ? c.125_137del - r.? p.(Met42Thrfs*75) g.100662755_100662767del g.101407767_101407779del 125_137delTGGGCTGGCTGCA - GLA_000442 - PubMed: Ishii 1991 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.127G>A - r.? p.(Gly43Ser) g.100662765C>T g.101407777C>T - - GLA_000445 - Kwan 2007, abstract - - Germline - - - 0 - Johan den Dunnen
+/. ? c.127G>C - r.(?) p.(Gly43Arg) g.100662765C>G g.101407777C>G - - GLA_000129 - PubMed: Germain 2002 - - Germline - - - 0 - LOVD-team, but with Curator vacancy
+/. ? c.128G>A - r.(?) p.(Gly43Asp) g.100662764C>T g.101407776C>T - - GLA_000127 - Iga 2001, HGOL - - Germline - - - 0 - LOVD-team, but with Curator vacancy
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