All transcript variants in gene GLA

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

857 entries on 9 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. - c.-5255G>A r.(?) p.(=) - - g.100668146C>T - HNRNPH2(NM_001032393.2):c.1170C>T (p.G390=) - chrX_015979 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_Leiden
+/. - 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
+/. - 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_Groningen
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. _1 c.-573C>G r.spl p.? - VUS g.100663464G>C g.101408476G>C - - GLA_000329 - PubMed: Wu 2011 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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
+/. 1 c.-30G>A r.spl p.(=) - pathogenic g.100662921C>T g.101407933C>T - - GLA_000328 - PubMed: Saifudeen 1995 - rs3027584 Germline - - - 0 - Johan den Dunnen
-/. - c.-30G>A r.(?) p.(=) - benign g.100662921C>T g.101407933C>T GLA(NM_000169.2):c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-30G>A r.(?) p.(=) - benign g.100662921C>T g.101407933C>T GLA(NM_000169.2):c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-30G>A r.(?) p.(=) - benign g.100662921C>T g.101407933C>T GLA(NM_000169.2):c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_Utrecht
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - 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_Nijmegen
-/. - c.-10C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_AMC
-/. - c.-10C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Utrecht
-/. - c.-10C>T r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-10C>T r.(?) p.(=) - 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_Nijmegen
-?/. - 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
+/. ? c.? r.(?) p.(E66D - pathogenic g.? - - - GLA_000089 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(F273K - pathogenic g.? - - - GLA_000098 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(F396Y - pathogenic g.? - - - GLA_000101 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(G132T - pathogenic g.? - - - GLA_000105 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(G43F - pathogenic g.? - - - GLA_000128 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(G85N - pathogenic g.? - - - GLA_000132 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(H46S - pathogenic g.? - - - GLA_000136 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(I219N - pathogenic g.? - - - GLA_000138 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(K213N - pathogenic g.? - - - GLA_000150 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(K240A - pathogenic g.? - - - GLA_000151 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(L120P - pathogenic g.? - - - GLA_000154 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(L166G - pathogenic g.? - - - GLA_000158 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(L311F - pathogenic g.? - - - GLA_000172 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(L394R - pathogenic g.? - - - GLA_000175 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(L3R - pathogenic g.? - - - GLA_000176 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(L89K - pathogenic g.? - - - GLA_000181 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(M187I - pathogenic g.? - - - GLA_000184 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(M267L - pathogenic g.? - - - GLA_000191 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(N192Q - pathogenic g.? - - - GLA_000206 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(N215H - pathogenic g.? - - - GLA_000207 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(N278E - pathogenic g.? - - - GLA_000214 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(N278S - pathogenic g.? - - - GLA_000215 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(P409A - pathogenic g.? - - - GLA_000235 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(P409D - pathogenic g.? - - - GLA_000236 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(P40T - pathogenic g.? - - - GLA_000240 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(Q280S - pathogenic g.? - - - GLA_000249 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(Q57L - pathogenic g.? - - - GLA_000258 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(S276C - pathogenic g.? - - - GLA_000284 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(S65A - pathogenic g.? - - - GLA_000289 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(S65T - pathogenic g.? - - - GLA_000290 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(V22P - pathogenic g.? - - - GLA_000298 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(V281R - pathogenic g.? - - - GLA_000301 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(W277L - pathogenic g.? - - - GLA_000312 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.? r.(?) p.(Y123M - pathogenic g.? - - - GLA_000321 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.1A>G r.(?) p.0? - pathogenic g.100662891T>C g.101407903T>C M1V - GLA_000467 - Kwan 2007, abstract - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>A r.(?) p.0? - pathogenic g.100662890A>T g.101407902A>T M1K - GLA_000491 - Dobrovolny 2008, abstract - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.2T>C r.(?) p.0? - pathogenic g.100662890A>G g.101407902A>G M1T - GLA_000189 - PubMed: Eng 1997 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.2T>G r.(?) p.0? - pathogenic g.100662890A>C g.101407902A>C M1R - GLA_000188 - PubMed: Shabbeer 2002 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.3G>A r.(?) p.0? - pathogenic g.100662889C>T g.101407901C>T M1I - GLA_000187 - PubMed: Blanch 1996 - - Germline - - - 0 - Global Variome, with Curator vacancy
-?/. - 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
+/. ? c.18del r.(?) p.(Glu7Asnfs*114) - pathogenic g.100662874del g.101407886del 18delA - GLA_000461 - PubMed: Shabbeer 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.19G>T r.(?) p.(Glu7*) - pathogenic g.100662873C>A g.101407885C>A - - GLA_000466 - Dobrovolny 2008, abstract - - Germline - - - 0 - Johan den Dunnen
-?/. - 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 c.26del r.(?) p.(His9Leufs*112) - pathogenic g.100662866del g.101407878del 26delA - GLA_000480 - PubMed: Eng 1994 - - Germline - - - 0 - Johan den Dunnen
?/. - 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 c.32del r.(?) p.(Gly11Alafs*110) - pathogenic g.100662862del g.101407874del 32delG - GLA_000499 - PubMed: Ashton-Prolla 1999 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.33del r.(?) p.(Cys12Alafs*109) - VUS g.100662859del g.101407871del 33delC - GLA_000501 - PubMed: Batista 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.34_42del r.(?) p.(Cys12_Leu14del) - pathogenic 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) - pathogenic g.100662848_100662860del g.101407860_101407872del 35_47delGCGCGCTTGCGCT - GLA_000503 - PubMed: Topaloglu 1999 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.38C>G r.(?) p.(Ala13Gly) - pathogenic g.100662854G>C g.101407866G>C A13G - GLA_000012 - PubMed: Kuipers 2010, Journal: Kuipers 2010 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.41T>C r.(?) p.(Leu14Pro) - pathogenic g.100662851A>G g.101407863A>G - - GLA_000157 - PubMed: Tse 2003 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.44C>G r.(?) p.(Ala15Gly) - pathogenic g.100662848G>C g.101407860G>C - - GLA_000017 - PubMed: Koskenvuo 2009 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.47T>C r.(?) p.(Leu16Pro) - pathogenic g.100662845A>G g.101407857A>G - - GLA_000161 - PubMed: Garzuly 2005 - - Germline - - - 0 - Global Variome, with Curator vacancy
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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_Rotterdam
-?/. - 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_Nijmegen
+/. 1 c.53T>C r.(?) p.(Phe18Ser) - pathogenic g.100662839A>G g.101407851A>G - - GLA_000096 - PubMed: Auray-Blais 2008 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 4 c.56T>C r.(?) p.(Leu19Pro) - pathogenic g.100662836A>G g.101407848A>G - - GLA_000164 - PubMed: Teraguchi 2004 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.58G>C r.(?) p.(Ala20Pro) - pathogenic g.100662834C>G g.101407846C>G - - GLA_000018 - PubMed: Nakao 1995 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.59_73del r.(?) p.(Ala20_Trp24del) - pathogenic g.100662821_100662835del g.101407833_101407847del 59_73delCCCTCGTTTCCTGGG - GLA_000547 - PubMed: Germain 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.70T>G r.(?) p.(Trp24Gly) - pathogenic g.100662822A>C g.101407834A>C - - GLA_000310 - PubMed: Kleinert 2009 - - Germline - - - 0 - Global Variome, with Curator vacancy
-?/. - 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 c.85dup r.(?) p.(Ala29Glyfs*2) - pathogenic g.100662810dup g.101407822dup 85dupG - GLA_000618 - PubMed: Ashley 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.92C>T r.(?) p.(Ala31Val) - pathogenic g.100662800G>A g.101407812G>A - - GLA_000027 - PubMed: Eng 1997 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.95T>C r.(?) p.(Leu32Pro) - pathogenic g.100662797A>G g.101407809A>G - - GLA_000173 - PubMed: Madsen 1995 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. 1 c.100A>G r.(?) p.(Asn34Asp) - pathogenic g.100662792T>C g.101407804T>C - - GLA_000672 - - - - Germline - - - 0 - Paula Rozenfeld
+/. ? c.101A>G r.(?) p.(Asn34Ser) - pathogenic g.100662791T>C g.101407803T>C - - GLA_000223 - PubMed: Eng 1993 - rs28935192 Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.102T>G r.(?) p.(Asn34Lys) - pathogenic g.100662790A>C g.101407802A>C - - GLA_000222 - PubMed: Shabbeer 2006 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.103G>A r.(?) p.(Gly35Arg) - pathogenic g.100662789C>T g.101407801C>T - - GLA_000126 - PubMed: Davies 1994 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.107T>C r.(?) p.(Leu36Ser) - pathogenic g.100662785A>G g.101407797A>G - - GLA_000174 - PubMed: Erdos 2008 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.108G>T r.(?) p.(Leu36Phe) - pathogenic g.100662784C>A g.101407796C>A - - GLA_000384 - PubMed: Pereira 2007 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.109G>A r.(?) p.(Ala37Thr) - pathogenic g.100662783C>T g.101407795C>T - - GLA_000028 - PubMed: Sadick 2007 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.110C>T r.(?) p.(Ala37Val) - pathogenic g.100662782G>A g.101407794G>A - - GLA_000391 - PubMed: Nakamura 2010 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.118C>G r.(?) p.(Pro40Ala) - pathogenic g.100662774G>C g.101407786G>C - - GLA_000237 - PubMed: Koskenvuo 2009 - - Germline - - - 0 - Global Variome, with Curator vacancy
+/. ? c.118C>T r.(?) p.(Pro40Ser) - pathogenic g.100662774G>A g.101407786G>A - - GLA_000239 - PubMed: Koide 1990 - - Germline - - - 0 - Global Variome, with Curator vacancy
?/. ? c.119C>A r.(?) p.(Pro40His) - VUS g.100662773G>T g.101407785G>T - - GLA_000424 - PubMed: Meng 2010 - - Germline - - - 0 - Johan den Dunnen
+/. ? c.119C>T r.(?) p.(Pro40Leu) - pathogenic g.100662773G>A g.101407785G>A - - GLA_000238 - PubMed: Ashton-Prolla 2000 - - Germline - - - 0 - Global Variome, with Curator vacancy
-?/. - 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
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