Unique variants in the EMD gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000117.2 transcript reference sequence.

186 entries on 2 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 1i_6_ c.(82+1_831)_(*1_?)delins[TGCAGTTCACTGCAATC;[NM_001456.3:c.(2022+1_2023-1)_(*1_?)inv]] r.? p.? - pathogenic 1 more item - EMD 2-6 del along with 17 bp insertion and FLNA 14-47 inverted dup - EMD_000190 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.(?_-252)_(*252_?)del r.? p.? - pathogenic (recessive) g.(?_153607593)_(153609809_?)del - chrX:153607593-153609809 - EMD_000187 2.2 kb deletion PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
./. 1 - c.-897039_*349dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
./. 1 - c.-42004_*1112872dup - - - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-37437_*251551dup r.0? p.0? - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.-4721_*13846del r.0 p.0 - pathogenic g.153603124_153623403del g.154374755_154395034del - - EMD_000008 21kb deletion PubMed: Small - - Germline - - - - - Johan den Dunnen
+/. 6 1, _1_6_ c.(?_-248)_(*326_?)del r.0, r.0? p.0, p.0? - pathogenic g.(?_153607597del)_(153609883_?)del, g.[153551430_(1535714)del;153603341_(153613227)del] - - - EMD_000007, EMD_000059 34kb deletion in inverted FLNA/EMD allele, breakpoints repeat unit estimated, 1 more item EMD-Muller, 1996, EMD-Wehnert, 1998, PubMed: Fujimoto, PubMed: Funakoshi 1999, PubMed: Small 1998, 1 more item - - Germline - - - - - Johan den Dunnen
-/. 1 1 c.(?_-248)_(*326_?)inv r.(=) p.(=) - benign g.(153564000_153607597)_(153609883_153624000)inv - - - EMD_000089 48kb inversion FLNA/EMD PubMed: Small 1997 - - Germline - 19/106 controls - - - Johan den Dunnen
?/. 2 1 c.-139_-118del r.(?) p.(=) - VUS g.153607706_153607727del g.154379346_154379367del -150_-129del - EMD_000001 - PubMed: Manilal, PubMed: Wulff - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.? r.55_83del p.Tyr19Ilefs*4 - pathogenic g.? - - - EMD_000012 - PubMed: Bione, PubMed: Romeo, PubMed: Sabatelli 1998, OMIM:var0003 - - Germline - - - - - Johan den Dunnen
+/. 4 1 c.1A>G r.(?), r.1a>g p.0? - pathogenic g.153607845A>G g.154379485A>G - - EMD_000058 - EMD-Toniolo, 1996, EMD-Toniolo, 1998, PubMed: Bione, OMIM:var0002, PubMed: Markiewicz 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.2T>C r.(?) p.0? - pathogenic g.153607846T>C g.154379486T>C - - EMD_000002 - PubMed: Yates - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.2T>G r.(?) p.0? - pathogenic g.153607846T>G g.154379486T>G - - EMD_000003 - PubMed: Manilal, PubMed: Yates, PubMed: Paquis, PubMed: Mora - - Germline - - - - - Johan den Dunnen
+/., ?/. 3 1 c.3G>A r.(?), r.3g>a p.(Met1?), p.0, p.0? - pathogenic, VUS g.153607847G>A g.154379487G>A - - EMD_000004 - from website {DBsub-Emory}, 1 more item - - Germline, Unknown - - - - - Ieke Ginjaar, Lab Müller-Reible, Madhuri Hegde
+/. 11 1 c.(3_31del?), c.3_31del r.(?) p.(fs*), p.0? - pathogenic g.153607847_153607875del, g.? g.154379487_154379515del 29bp del - EMD_000000, EMD_000087 - PubMed: Boriani 2003, PubMed: Funakoshi 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.7_188-23delins(130) r.? p.(Asn3*) - pathogenic g.153607851_153608279delins(130) - 7_188-23del429ins103 - EMD_000015 insertion not specified PubMed: Bione, PubMed: Yates, PubMed: Yates, PubMed: Ellis 1998 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.12C>T r.(?) p.(=) - VUS g.153607856C>T g.154379496C>T - - EMD_000148 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.30C>G r.(?) p.(Thr10=) - likely benign g.153607874C>G g.154379514C>G - - FLNA_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.31del r.(?) p.(Glu11Serfs*2) - pathogenic g.153607875del g.154379515del 31delG - EMD_000061 - PubMed: Kubo, PubMed: Funakoshi 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.57C>G r.(?) p.(Tyr19*) - pathogenic g.153607901C>G g.154379541C>G - - EMD_000060 - EMD-Toniolo, 1996 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.66G>T r.(?) p.(Pro22=) - benign g.153607910G>T g.154379550G>T EMD(NM_000117.2):c.66G>T (p.P22=) - FLNA_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.71G>C r.(?) p.(Gly24Ala) - VUS g.153607915G>C g.154379555G>C - - FLNA_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.82+1del r.54_82del, r.spl p.?, p.Tyr19Ilefs*4 - pathogenic g.153607927del g.154379567del 82+1delG - EMD_000005 c.82+1delG PubMed: Bione, PubMed: Manilal - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.82+1G>T r.spl p.? - pathogenic g.153607927G>T g.154379567G>T - - EMD_000062 - PubMed: Nigro - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.82+5G>C r.54_82del p.fs? - pathogenic g.153607931G>C g.154379571G>C - - EMD_000006 - PubMed: Hasegawa - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.82+5G>T r.spl? p.? - likely benign g.153607931G>T g.154379571G>T - - FLNA_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.82+6_82+7insCG r.spl? p.(?) - pathogenic g.153607932_153607933insCG g.154379572_154379573insCG - - EMD_000063 - PubMed: Bione - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.82+17G>A r.(=) p.(=) - likely benign g.153607943G>A g.154379583G>A EMD(NM_000117.2):c.82+17G>A - EMD_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.83-13C>G r.(=) p.(=) - benign g.153608037C>G g.154379677C>G EMD(NM_000117.2):c.83-13C>G - EMD_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 2 c.83-4_83del r.spl p.? - pathogenic g.153608046_153608050del g.154379686_154379690del - - EMD_000021 - PubMed: Yates - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.83-2A>C r.spl p.? - pathogenic g.153608048A>C g.154379688A>C - - EMD_000025 - PubMed: Bione - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.96_155del r.(?) p.(Arg32_Pro51del) - pathogenic g.153608063_153608122del g.154379703_154379762del - - EMD_000020 - PubMed: Talkop - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.99_157del r.(?) p.(Tyr34Valfs*7) - pathogenic g.153608066_153608124del g.154379706_154379764del 59nt del g.329_388del - EMD_000088 - Wehnert (1999) Hum.Genet. 104:195 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.100del r.(?) p.(Tyr34Thrfs*31) - pathogenic g.153608067del g.154379707del 100delT - EMD_000009 - PubMed: Nevo 2001 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.102C>G r.(?), r.102c>g p.(Tyr34*), p.Tyr34* - pathogenic g.153608069C>G g.154379709C>G - - EMD_000010 - Tverskaya ESHG2006 P0740, PubMed: Yates, PubMed: Yates, PubMed: de Koning Gans - - Germline - - - - - Ieke Ginjaar, Svetlana Tverskaya
-?/. 1 - c.105G>A r.(?) p.(Glu35=) - likely benign g.153608072G>A - EMD(NM_000117.2):c.105G>A (p.E35=) - EMD_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.106A>T r.(?) p.(Lys36*) - pathogenic g.153608073A>T g.154379713A>T - - EMD_000107 - PubMed: Nigro 2010 - - Germline - - - - - Johan den Dunnen
-/., -?/. 3 - c.108G>A r.(?) p.(Lys36=) - benign, likely benign g.153608075G>A g.154379715G>A EMD(NM_000117.2):c.108G>A (p.K36=) - EMD_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.110_112del r.(?) p.(Lys37del) - likely pathogenic g.153608077_153608079del g.154379717_154379719del - - EMD_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.123C>G r.(?) p.(Tyr41*) - pathogenic g.153608090C>G g.154379730C>G - - EMD_000064 - PubMed: Bione - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.124G>T r.(?) p.(Glu42*) - pathogenic g.153608091G>T g.154379731G>T - - EMD_000115 - - - - Germline - - - - - Tom Winder
+/. 4 2 c.130C>T r.(?), r.130c>u p.(Gln44*), p.Gln44* - pathogenic g.153608097C>T g.154379737C>T - - EMD_000011 RNA reduced EMD-Kaplan, 1998, PubMed: Buckley 1999, PubMed: Manilal, PubMed: Manilal, 1 more item - - Germline - - - - - Johan den Dunnen
-/. 1 - c.132G>A r.(?) p.(Gln44=) - benign g.153608099G>A g.154379739G>A EMD(NM_000117.2):c.132G>A (p.Q44=) - EMD_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2 c.138_163del r.138_163del p.Ser49Leufs*3 - pathogenic g.153608105_153608130del g.154379745_154379770del - - EMD_000013 - PubMed: Nevo 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.139_140dup r.139_140dup p.Leu48Glyfs*18 - pathogenic g.153608106_153608107dup g.154379746_154379747dup - - EMD_000024 - PubMed: Bione, PubMed: Romeo, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.144C>T r.(?) p.(Leu48=) - benign g.153608111C>T g.154379751C>T EMD(NM_000117.2):c.144C>T (p.L48=) - EMD_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.148C>T r.(?) p.(Pro50Ser) - VUS g.153608115C>T g.154379755C>T EMD(NM_000117.2):c.148C>T (p.P50S) - EMD_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 3 2 c.149C>A r.(?) p.(Pro50His) - VUS g.153608116C>A g.154379756C>A EMD(NM_000117.2):c.149C>A (p.P50H) - EMD_000120 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 5 2 c.153del r.(?) p.(Ser52Alafs*13) - pathogenic g.153608120del g.154379760del 153delC - EMD_000014 - EMD-D.Toniolo, 1998, EMD-Toniolo, 1996, PubMed: Manilal, 2 more items - - Germline - - - - - Johan den Dunnen
?/. 1 - c.157T>G r.(?) p.(Ser53Ala) - VUS g.153608124T>G g.154379764T>G - - EMD_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.161C>T r.(?) p.(Ser54Phe) - pathogenic g.153608128C>T g.154379768C>T - - EMD_000065 - PubMed: Ellis, EMD-Muller, 1996 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.165C>A r.(?) p.(Ala55=) - likely benign g.153608132C>A g.154379772C>A - - EMD_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.165del r.(?) p.(Ala56Profs*9) - pathogenic g.153608132del g.154379772del 164delC - EMD_000095 - UMD: Wehnert unpublished - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.174_175del r.(?) p.(Tyr59*) - pathogenic g.153608141_153608142del g.154379781_154379782del - - EMD_000066 - EMD-Kaplan, 1998 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.177T>A r.(?) p.(Tyr59*) - pathogenic g.153608144T>A g.154379784T>A - - EMD_000016 - EMD-Toniolo, 1996, PubMed: Yates - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.178dup r.(?) p.(Ser60Lysfs*4) - pathogenic g.153608145dup g.154379785dup 178dupA - EMD_000017 - PubMed: Nevo 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.184dup r.(?) p.(Ser62Phefs*2) - pathogenic g.153608151dup g.154379791dup 184dupT - EMD_000018 - PubMed: Canki-Klain 2000 - - Germline - - MboII+ - - Johan den Dunnen
+/. 1 2 c.186dup r.(?) p.(Asp63*) - pathogenic g.153608153dup g.154379793dup 186dupT - EMD_000104 - PubMed: Yates - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.187+1G>A r.spl p.? - pathogenic g.153608155G>A g.154379795G>A - - EMD_000019 - PubMed: Yates, PubMed: Yates, PubMed: Deymeer, PubMed: Yates - - Germline - - - - - Johan den Dunnen
-/. 1 - c.188-13C>T r.(=) p.(=) - benign g.153608289C>T - EMD(NM_000117.2):c.188-13C>T - EMD_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.188-13_188-11del r.(=) p.(=) - benign g.153608289_153608291del g.154379929_154379931del EMD(NM_000117.2):c.188-13_188-11delCCT - EMD_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.188-12C>T r.(=) p.(=) - likely benign g.153608290C>T g.154379930C>T EMD(NM_000117.2):c.188-12C>T - EMD_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.206G>A r.(?) p.(Gly69Glu) - likely benign g.153608320G>A - EMD(NM_000117.2):c.206G>A (p.G69E) - EMD_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.212C>T r.(?) p.(Ala71Val) - likely benign g.153608326C>T g.154379966C>T EMD(NM_000117.2):c.212C>T (p.A71V) - EMD_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., ?/. 2 3 c.215A>T r.(?) p.(Asp72Val) - pathogenic, VUS g.153608329A>T g.154379969A>T - - EMD_000100 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Svetlana Tverskaya
+/. 1 3 c.221_222del r.(?) p.(Tyr74*) - pathogenic g.153608335_153608336del g.154379975_154379976del 221_222delAT - EMD_000068 - PubMed: Bione - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.234G>A r.(?) p.(Lys78=) - benign, likely benign g.153608348G>A g.154379988G>A EMD(NM_000117.2):c.234G>A (p.K78=) - EMD_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 3 c.239_240del r.(?) p.(Glu80Glyfs*12) - pathogenic g.153608353_153608354del g.154379993_154379994del - - EMD_000022 - PubMed: Wulff - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.241G>A r.(?) p.(Asp81Asn) - likely benign g.153608355G>A - EMD(NM_000117.2):c.241G>A (p.D81N) - EMD_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.243C>T r.(?) p.(=) - VUS g.153608357C>T g.154379997C>T - - EMD_000149 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 5 3 c.251_255del r.(?) p.(Leu84Profs*7) - pathogenic g.153608365_153608369del g.154380005_154380009del 251_255delTCTAC - EMD_000023 de novo, germline mosaicism in mother, no second variant EMD-Yates, 1998, PubMed: Hoeltzenbein, PubMed: Manilal, PubMed: Hoeltzenbein, OMIM:var0010, 2 more items - - De novo, Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 3 c.256C>T r.(?) p.(Gln86*) - pathogenic g.153608370C>T g.154380010C>T - - EMD_000069 - EMD-Toniolo, 1998 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.265+12G>C r.(=) p.(=) - benign g.153608391G>C g.154380031G>C EMD(NM_000117.2):c.265+12G>C - EMD_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.266-35_266-18del r.(=) p.(=) - likely pathogenic g.153608559_153608576del - EMD(NM_000117.2):c.266-35_266-18delATGCCCCCTCTGCTACCG - EMD_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.266-35_266-18dup r.(=) p.(=) - likely benign g.153608559_153608576dup g.154380199_154380216dup EMD(NM_000117.2):c.266-17delCinsATGCCCCCTCTGCTACCGC - EMD_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +?/. 2 3i, 4 c.266-27_266-10del r.(spl?), r.spl? p.(=), p.(?) - likely pathogenic, pathogenic g.153608567_153608584del g.154380207_154380224del - - EMD_000071 variant found in affected maternal grandfather Wehnert (2000) Hum.Genet. 105:151 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 1 4 c.266-3A>G r.[266_308del, 265_266ins266-86_266-1;266-3a>g, 26 p.fs? - pathogenic g.153608591A>G g.154380231A>G - - EMD_000028 - PubMed: Bione, OMIM:var0005 - - Germline - - - - - Johan den Dunnen
+/. 3 3i, 4 c.266-2A>G r.265_266insg, r.spl p.?, p.Tyr90Leufs*3 - pathogenic g.153608592A>G g.154380232A>G - - EMD_000027 - from website {DBsub-Emory}, PubMed: Nevo 1999, 1 more item - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 4 c.266-1G>C r.spl p.? - pathogenic g.153608593G>C g.154380233G>C - - EMD_000070 - EMD-Kress, 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.266-?_*325+?del r.(266_1090del?) p.(?) - pathogenic g.153608594_153609882del - - - EMD_000026 1 more item PubMed: Manilal - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.272A>G r.(?) p.(Asn91Ser) - likely benign g.153608600A>G g.154380240A>G - - EMD_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.276C>T r.(?) p.(Asp92=) - benign, likely benign g.153608604C>T g.154380244C>T EMD(NM_000117.2):c.276C>T (p.D92=) - EMD_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 4 c.282C>G r.(?) p.(Tyr94*) - pathogenic g.153608610C>G g.154380250C>G - - EMD_000029 - PubMed: Yates - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 4 c.284_298del r.(?) p.(Tyr95_Tyr99del) - pathogenic, VUS g.153608612_153608626del g.154380252_154380266del 284_298delATGAAGAGAGCTACT - EMD_000030 - from website {DBsub-Emory}, 1 more item - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
?/. 1 4 c.295T>C r.(?) p.(Tyr99His) - VUS g.153608623T>C g.154380263T>C - - EMD_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 4 c.301dup r.(?) p.(Thr101Asnfs*28) - pathogenic g.153608629dup g.154380269dup 301dupA - EMD_000031 - PubMed: Wulff - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.314_315del r.(?) p.(Tyr105Trpfs*23) - pathogenic g.153608642_153608643del g.154380282_154380283del - - EMD_000032 - PubMed: Manilal, PubMed: Wulff, PubMed: Wulff 1997 - - Germline - - - - - Johan den Dunnen
+/. 3 4 c.315T>G r.(?) p.(Tyr105*) - pathogenic g.153608643T>G g.154380283T>G - - EMD_000034 - PubMed: Manilal, PubMed: Muntoni - - Germline - - - - - Johan den Dunnen
?/. 1 - c.320A>T r.(?) p.(Glu107Val) - VUS g.153608648A>T g.154380288A>T EMD(NM_000117.2):c.320A>T (p.E107V) - EMD_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 4 c.325G>T r.(?) p.(Glu109*) - pathogenic g.153608653G>T g.154380293G>T - - EMD_000035 - PubMed: Bione, PubMed: Kress, PubMed: Manilal, PubMed: Yates, PubMed: Hodgson, {PMID1525559 :Cole} - - Germline - - - - - Johan den Dunnen
?/. 1 - c.353G>A r.(?) p.(Arg118His) - VUS g.153608681G>A g.154380321G>A - - EMD_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 4 c.355C>A r.(?) p.(Gln119Lys) - VUS g.153608683C>A g.154380323C>A - - EMD_000151 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 4 c.356dup r.(?) p.(Ser120Valfs*9) - pathogenic g.153608684dup g.154380324dup 356dupA - EMD_000091 - - - - Germline - - - - - Rosário dos Santos
+/. 1 4 c.358del r.(?) p.(Ser120Glnfs*2) - pathogenic g.153608686del g.154380326del 358delT - EMD_000074 - EMD-Wehnert, 1998 - - Germline - - - - - Johan den Dunnen
+/., -?/. 2 4 c.359_362del r.(?) p.(Ser120*), p.(Ser120Ter) - likely benign, pathogenic g.153608687_153608690del g.154380327_154380330del EMD(NM_000117.2):c.359_362delCAGT (p.S120*) - EMD_000036, EMD_000128 VKGL data sharing initiative Nederland PubMed: Manilal, PubMed: Yates - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 4 c.385G>A r.(?) p.(Ala129Thr) - VUS g.153608713G>A g.154380353G>A - - EMD_000152 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/., -?/. 2 - c.396C>T r.(?) p.(His132=) - benign, likely benign g.153608724C>T g.154380364C>T EMD(NM_000117.2):c.396C>T (p.H132=) - EMD_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 4 c.397C>T r.(?) p.(Gln133*) - pathogenic g.153608725C>T g.154380365C>T - - EMD_000075 - EMD-Toniolo, 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.399G>T r.spl? p.(fs?) - pathogenic g.153608727G>T g.154380367G>T - - EMD_000038 p.Gln133His not pathogenic (Holt ) PubMed: Mora, PubMed: Holt - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.399+1G>A r.spl p.? - pathogenic g.153608728G>A g.154380368G>A - - EMD_000037 - PubMed: Manilal - - Germline - - - - - Johan den Dunnen
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