Unique variants in the LMNA 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_170707.3 transcript reference sequence.

633 entries on 7 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 1 c.-31735+?_357-?del r.-31735_357del p.0 - pathogenic g.156052975_156100408del g.156083184_156130617del - - LMNA_000209 not in 300 control chromosomes PubMed: Van Tintelen 2007 - - Germline - - - - - Johan den Dunnen
-/. 2 ?, _1 c.-1242T>C r.(=) p.(=) - benign g.156083468T>C g.156113677T>C - - LMNA_000236 - PubMed: Halaschek-Wiener 2009 - rs2485662 Germline - 30/94 chromosomes - - - Johan den Dunnen
-/. 2 ?, _1 c.-1214T>C r.(=) p.(=) - benign g.156083496T>C g.156113705T>C - - LMNA_000235 - PubMed: Halaschek-Wiener 2009 - rs2485661 Germline - 2/94 chromosomes - - - Johan den Dunnen
-/. 2 ?, _1 c.-845dup r.(=) p.(=) - benign g.156083865dup g.156114074dup -845dupC - LMNA_000237 - PubMed: Halaschek-Wiener 2009 - rs28365858 Germline - 1/94 chromosomes - - - Johan den Dunnen
+?/. 1 _1_12_ c.(?_-249)_(*981_?)del r.0 p.0 - likely pathogenic g.? - - - LMNA_000098 6 Mb deletion PubMed: Eriksson - - Germline - - - - - Johan den Dunnen
+/., -/. 2 1 c.-128T>C r.(?) p.(=) - benign, pathogenic g.156084582T>C g.156114791T>C - - LMNA_000159 not in 150 control chromosomes PubMed: D Amico 2005, Sara Benedetti 2005 - - De novo, Germline - - - - - Johan den Dunnen
-/. 1 - c.-88G>T r.(?) p.(=) - benign g.156084622G>T g.156114831G>T - - LMNA_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-59G>A r.(?) p.(=) - VUS g.156084651G>A g.156114860G>A - - LMNA_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.-3_12del r.(?) p.0? - pathogenic g.156084707_156084721del g.156114916_156114930del - - LMNA_000151 - PubMed: Walter 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 5'UTR c.-1C>A r.(?) p.(=) - VUS g.156084709C>A g.156114918C>A - - LMNA_000502 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.1A>G r.(?) p.(Met1?) - likely pathogenic g.156084710A>G g.156114919A>G LMNA(NM_170707.2):c.1A>G (p.M1?) - LMNA_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., ?/. 2 1 c.3G>T r.(?) p.0? - likely pathogenic, VUS g.156084712G>T g.156114921G>T M1?, Met1Ile - LMNA_000252 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
-/. 1 1 c.5A>G r.(?) p.(Glu2Gly) - benign g.156084714A>G g.156114923A>G - - LMNA_000136 - - - rs11549669 Germline - - - - - Johan den Dunnen
?/. 1 - c.5A>T r.(?) p.(Glu2Val) - VUS g.156084714A>T g.156114923A>T - - LMNA_000553 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.16C>T r.(?) p.(Gln6*) - pathogenic g.156084725C>T g.156114934C>T - - LMNA_000001 - PubMed: Bonne, PubMed: Becane, OMIM:var0001, PubMed: Walsh 2017 - - Germline - 1/740 cases +BfaI - - Johan den Dunnen
+/. 2 1 c.29C>T r.(?) p.(Thr10Ile) - pathogenic g.156084738C>T g.156114947C>T - - LMNA_000108 - from website {DBsub-Emory}, PubMed: Csoka - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 1 c.31del r.(?) p.(Arg11Alafs*85) - pathogenic g.156084740del g.156114949del delC31 (Thr10fs*85) - LMNA_000328 - PubMed: Pasotti 2008 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.33C>T r.(?) p.(Arg11=) - benign g.156084742C>T g.156114951C>T LMNA(NM_170707.2):c.33C>T (p.R11=) - LMNA_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.42G>A r.(?) p.(Ala14=) - benign g.156084751G>A g.156114960G>A LMNA(NM_170707.2):c.42G>A (p.A14=) - LMNA_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., -/-?, -/. 9 1 c.51C>T r.(=), r.(?), r.51c>u p.(=), p.(Ser17=) - benign, likely pathogenic g.156084760C>T g.156114969C>T LMNA(NM_170707.2):c.51C>T (p.S17=), Ser17Ser - LMNA_000135 no homozygous individuals, unclassified variant, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Gaudy-Marqueste 2009, PubMed: Sebillon - rs11549668 CLASSIFICATION record, Germline, Unknown - 3/254 chromosomes - - - Johan den Dunnen, Madhuri Hegde, Birgit Neitzel, Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.64T>G r.(?) p.(Ser22Ala) - likely pathogenic g.156084773T>G g.156114982T>G - - LMNA_000639 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794728599 Germline - 2/2760 individuals - - - Mohammed Faruq
+/. 1 1 c.65C>T r.(?) p.(Ser22Leu) - pathogenic g.156084774C>T g.156114983C>T - - LMNA_000153 - PubMed: Pethig 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.65_66delinsT r.(?) p.(Ser22Phefs*74) - pathogenic g.156084774_156084775delinsT g.156114983_156114984delinsT - - LMNA_000503 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 2 1 c.71C>G r.(?) p.(Thr24Ser) - likely pathogenic g.156084780C>G g.156114989C>G - - LMNA_000354 - - - - Germline yes - - - - Zohreh Fattahi
?/. 2 - c.71C>T r.(?) p.(Thr24Ile) - VUS g.156084780C>T g.156114989C>T LMNA(NM_170707.2):c.71C>T (p.T24I) - LMNA_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.73C>A r.(?) p.(Arg25Ser) - benign g.156084782C>A g.156114991C>A - - LMNA_000613 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ?/. 2 1 c.73C>G r.(?) p.(Arg25Gly) - pathogenic, VUS g.156084782C>G g.156114991C>G - - LMNA_000092 VKGL data sharing initiative Nederland PubMed: Vytopil 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/., ?/. 2 1 c.73C>T r.(?) p.(Arg25Cys) - likely pathogenic, VUS g.156084782C>T g.156114991C>T - - LMNA_000288 not in 600 control chromosomes, VKGL data sharing initiative Nederland PubMed: van Tintelen 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 1 c.74C>G - p.Arg25Pro - NA g.156084783C>G - - - LMNA_000349 1 more item PubMed: Scherner 2011 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 - c.74del r.(?) p.(Arg25ProfsTer71) - VUS g.156084783del g.156114992del - - LMNA_000555 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.74G>C r.(?) p.(Arg25Pro) - pathogenic g.156084783G>C g.156114992G>C - - LMNA_000064 VKGL data sharing initiative Nederland PubMed: Brown - - CLASSIFICATION record, Germline - - -SfaNI - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.75C>G r.(?) p.(Arg25=) - likely benign g.156084784C>G g.156114993C>G - - LMNA_000556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.77del r.(?) p.(Ile26ThrfsTer70) - likely pathogenic g.156084786del g.156114995del - - LMNA_000614 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.77T>G r.(?) p.(Ile26Ser) - VUS g.156084786T>G g.156114995T>G - - LMNA_000213 - - - - Germline - - - - - Lab Müller-Reible
-?/. 1 - c.78C>T r.(?) p.(Ile26=) - likely benign g.156084787C>T g.156114996C>T LMNA(NM_170707.2):c.78C>T (p.=) - LMNA_000557 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 1 c.80C>T r.(?) p.(Thr27Ile) - pathogenic g.156084789C>T g.156114998C>T - - LMNA_000132 not in 266 control chromosomes - - - Germline - - HphI - - Rosário dos Santos
+/. 1 1 c.82C>G r.(?) p.(Arg28Trp) - pathogenic g.156084791C>G g.156115000C>G Arg28Trp - LMNA_000324 - PubMed: Pasotti 2008 - - Germline yes - - - - Johan den Dunnen
+/. 3 1 c.82C>T r.(?) p.(Arg28Trp) - pathogenic g.156084791C>T g.156115000C>T g.498C>T - LMNA_000052 not in 400 control chromosomes PubMed: Decaudain 2007, PubMed: Garg 2002 - - Germline - - - - - Johan den Dunnen, Lab Müller-Reible
+/., ?/. 4 1 c.83G>A r.(?) p.(Arg28Gln) - pathogenic, VUS g.156084792G>A g.156115001G>A R28Q - LMNA_000261 no second variant, not in 300 control chromosomes; probably de novo, parents not available PubMed: Komaki 2011, PubMed: Nallamilli 2018 - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde, Tom Winder
+/. 1 1 c.91G>A r.(?) p.(Glu31Lys) ACMG pathogenic (dominant) g.156084800G>A g.156115009G>A - - LMNA_000646 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.91_93del r.(?) p.(Glu31del) ACMG pathogenic (dominant) g.156084800_156084802del g.156115009_156115011del 91_93delGAG - LMNA_000647 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.94A>G r.(?) p.(Lys32Glu) ACMG pathogenic (dominant) g.156084803A>G g.156115012A>G - - LMNA_000648 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 17 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic, pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA, 94_96delAAG, 94_96delAGA, c.94_96delAAG, K32del - LMNA_000059 ACMG PM1, PM2, PM4, PP5, ACMG PM2, PM6, PP2, PP3, de novo, in patient, 2 more items Lacene, Neuromuscul.Disord. 12: 722, PubMed: D Amico 2005, Sara Benedetti 2005, PubMed: Fan 2020, 7 more items - rs60872029 CLASSIFICATION record, De novo, Germline, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Madhuri Hegde, Sandra Cooper, VKGL-NL_Nijmegen, Florence van Tienen
+/. 1 1 c.95A>C r.(?) p.(Lys32Thr) ACMG pathogenic (dominant) g.156084804A>C g.156115013A>C - - LMNA_000649 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.96G>T r.(?) p.(Lys32Asn) ACMG pathogenic (dominant) g.156084805G>T g.156115014G>T - - LMNA_000650 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.98A>G r.(?) p.Glu33Gly - pathogenic g.156084807A>G g.156115016A>G - - LMNA_000215 - PubMed: Lo 2008 - - Germline - ? ? - - Maria Chiotis
+?/. 1 1 c.99G>C r.(?) p.(Glu33Asp) - likely pathogenic g.156084808G>C g.156115017G>C - - LMNA_000504 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 1 c.99G>T r.(?) p.(Glu33Asp) - pathogenic g.156084808G>T g.156115017G>T LMNA(NM_170707.2):c.99G>T (p.E33D) - LMNA_000104 VKGL data sharing initiative Nederland PubMed: Goizet, PubMed: Vital 2005 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 1 c.99_101del r.(?) p.(Glu33del) ACMG pathogenic (dominant) g.156084808_156084810del g.156115017_156115019del 95_97delAGG - LMNA_000651 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
?/. 1 1 c.100G>A r.(?) p.(Asp34Asn) - VUS g.156084809G>A g.156115018G>A - - LMNA_000505 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1 c.103C>G r.(?) p.(Leu35Val) - pathogenic g.156084812C>G g.156115021C>G - - LMNA_000093 not in 200 control chromosomes; de novo, in patient PubMed: Vytopil 2003, PubMed: Sanna - - De novo - - - - - Johan den Dunnen
?/. 1 1 c.111G>A r.(?) p.(=) - VUS g.156084820G>A g.156115029G>A - - LMNA_000506 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1 c.115A>G r.(?) p.(Asn39Asp) - pathogenic g.156084824A>G g.156115033A>G N39D - LMNA_000272 not in 300 control chromosomes; probably de novo, parents not available PubMed: Komaki 2011 - - Unknown - - - - - Johan den Dunnen
+/., +?/., ?/. 11 1 c.116A>G r.(?) p.(Asn39Ser) ACMG likely pathogenic, pathogenic, pathogenic (dominant), VUS g.156084825A>G g.156115034A>G - - LMNA_000268 combination of variants not reported, de novo, in patient PubMed: Fan 2020, PubMed: Nallamilli 2018, PubMed: O'Grady 2016, PubMed: Quijano-Roy 2008, 2 more items - - De novo, Germline, Unknown - 1/1001 cases - - - Johan den Dunnen, Madhuri Hegde, Tom Winder, Wolfram Kress, Sandra Cooper
+/. 1 1 c.117T>G r.(?) p.(Asn39Lys) ACMG pathogenic (dominant) g.156084826T>G g.156115035T>G - - LMNA_000652 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.121C>A r.(?) p.(Arg41Ser) - pathogenic g.156084830C>A g.156115039C>A R41S - LMNA_000273 not in 300 control chromosomes; probably de novo, parents not available PubMed: Komaki 2011 - - Unknown - - - - - Johan den Dunnen
+/. 1 1 c.122G>C r.(?) p.(Arg41Pro) ACMG pathogenic (dominant) g.156084831G>C g.156115040G>C - - LMNA_000653 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/., ?/. 2 1 c.127G>A r.(?) p.(Ala43Thr) - pathogenic, VUS g.156084836G>A g.156115045G>A - - LMNA_000066 VKGL data sharing initiative Nederland PubMed: Brown - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 1 c.130G>T r.(?) p.(Val44Phe) - pathogenic g.156084839G>T g.156115048G>T - - LMNA_000060 - Lacene, Neuromuscul.Disord. 12: 722 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.132C>T r.(?) p.(Val44=) - likely benign g.156084841C>T g.156115050C>T - - LMNA_000558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 1 c.133T>A r.(?) p.(Tyr45Asn) - likely pathogenic g.156084842T>A g.156115051T>A - - LMNA_000294 - - - - Unknown - - - - - Tom Winder
+/., ?/. 3 1 c.134A>G r.(?) p.(Tyr45Cys) - pathogenic, VUS g.156084843A>G g.156115052A>G - - LMNA_000036 - PubMed: Bonne, PubMed: Nallamilli 2018, PubMed: Scherner 2011 - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
+/., ?/. 2 1 c.139G>C r.(?) p.(Asp47His) - pathogenic, VUS g.156084848G>C g.156115057G>C - - LMNA_000179 VKGL data sharing initiative Nederland Tverskaya ESHG2006 P0740 - - CLASSIFICATION record, Germline - - - - - Svetlana Tverskaya, VKGL-NL_Nijmegen
+/. 1 1 c.143G>C r.(?) p.(Arg48Pro) ACMG pathogenic (dominant) g.156084852G>C g.156115061G>C - - LMNA_000654 - PubMed: Fan 2020 - - De novo - - - - - Johan den Dunnen
+/. 3 1 c.148C>A r.(?), r.0 p.(Arg50Ser) - pathogenic g.156084857C>A g.156115066C>A - - LMNA_000065 - PubMed: Brown - - Germline - - +AluI - - Johan den Dunnen, Tom Winder, Andreas Laner
+/. 1 1 c.148C>T r.(?) p.(Arg50Cys) - pathogenic g.156084857C>T g.156115066C>T - - LMNA_000309 - - - - Germline - - - - - Tom Winder
+/. 2 1 c.149G>C r.(?) p.(Arg50Pro) - pathogenic g.156084858G>C g.156115067G>C - - LMNA_000037 de novo, in patient PubMed: Bonne, PubMed: Quijano-Roy 2008 - - De novo, Germline - - - - - Johan den Dunnen
?/. 2 1 c.149G>T r.(?) p.(Arg50Leu) - VUS g.156084858G>T g.156115067G>T - - LMNA_000507 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.150C>T r.(?) p.(Arg50=) - likely benign g.156084859C>T g.156115068C>T LMNA(NM_170707.2):c.150C>T (p.R50=) - LMNA_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.153G>T r.(?) p.(Ser51=) - benign g.156084862G>T g.156115071G>T LMNA(NM_170707.2):c.153G>T (p.S51=) - LMNA_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.154C>G r.(?) p.(Leu52Val) - likely pathogenic g.156084863C>G g.156115072C>G - - LMNA_000677 - PubMed: Walsh 2017 - - Germline - 1/740 cases - - - Johan den Dunnen
+/. 1 1 c.155T>C r.(?) p.(Leu52Pro) - pathogenic g.156084864T>C g.156115073T>C - - LMNA_000211 - Rudenskaya ESHG2007 P0780 - - Germline - - - - - Svetlana Tverskaya
+/. 1 1 c.158A>T r.(?) p.(Glu53Val) - pathogenic g.156084867A>T g.156115076A>T - - LMNA_000190 - Song ASHG2006 P485 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 4 1 c.161C>T r.(?) p.(Thr54Met) - likely benign, VUS g.156084870C>T g.156115079C>T LMNA(NM_005572.3):c.161C>T (p.(Thr54Met)), LMNA(NM_170707.2):c.161C>T (p.T54M) - LMNA_000380 VKGL data sharing initiative Nederland van Tienen, submitted - - CLASSIFICATION record, Germline/De novo (untested) ? - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_AMC, Florence van Tienen
+/. 1 1 c.162_163del r.(?) p.(Asn56Argfs*11) - pathogenic g.156084871_156084872del g.156115080_156115081del 162_163delGG - LMNA_000508 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1 c.169G>C r.169g>c p.Ala57Pro - pathogenic g.156084878G>C g.156115087G>C - - LMNA_000087 - PubMed: Chen, OMIM:var0030 - rs28928903 Germline - - - - - Johan den Dunnen
+?/., ?/. 2 1 c.173G>T r.(?) p.(Gly58Val) - likely pathogenic, VUS g.156084882G>T g.156115091G>T - - LMNA_000492 VKGL data sharing initiative Nederland van Tienen, submitted - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Nijmegen, Florence van Tienen
?/. 1 - c.175C>A r.(?) p.(Leu59Met) - VUS g.156084884C>A g.156115093C>A - - LMNA_000678 - PubMed: Walsh 2017 - - Germline - 1/304 cases - - - Johan den Dunnen
+/. 1 1 c.176T>G r.(?) p.(Leu59Arg) - pathogenic g.156084885T>G g.156115094T>G - - LMNA_000208 not in 232 control chromosomes; de novo, in patient PubMed: Nguyen 2006 - - De novo - - - - - Johan den Dunnen
+/. 11 1 c.178C>G r.(?) p.(Arg60Gly) - pathogenic g.156084887C>G g.156115096C>G - - LMNA_000005 - PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005, PubMed: van der Kooi, OMIM:var0005 - rs28928900 Germline - - +Sau96I - - Johan den Dunnen
+/. 1 1 c.184C>G r.(?) p.(Arg62Gly) - pathogenic g.156084893C>G g.156115102C>G - - LMNA_000053 - PubMed: Garg 2002 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.184C>T r.(?) p.(Arg62Cys) - likely pathogenic g.156084893C>T - LMNA(NM_170707.2):c.184C>T (p.R62C) - LMNA_000697 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 1 c.188T>A r.(?) p.(Ile63Asn) - pathogenic g.156084897T>A g.156115106T>A I63N - LMNA_000071 de novo, in patient PubMed: Boriani 2003, PubMed: Vytopil - - De novo, Germline - - - - - Johan den Dunnen
+/. 1 1 c.188T>G r.(?) p.(Ile63Ser) - pathogenic g.156084897T>G g.156115106T>G - - LMNA_000038 - PubMed: Bonne, PubMed: Vytopil, PubMed: Muchir - - Germline - - - - - Johan den Dunnen
+?/. 2 1 c.194A>G r.(?) p.(Glu65Gly) - likely pathogenic g.156084903A>G g.156115112A>G - - LMNA_000100 not in 130 control chromosomes PubMed: Vytopil 2003 - - Germline - - - - - Johan den Dunnen
+/. 2 1, 11 c.203_208del r.(?) p.(Glu68_Val69del) - pathogenic g.156084912_156084917del g.156115121_156115126del del212_8 - LMNA_000171 - PubMed: Arbustini 2005, PubMed: Pasotti 2008 - - Germline yes - - - - Johan den Dunnen
+?/., ?/. 2 1 c.208G>A r.(?) p.(Val70Ile) - likely pathogenic, VUS g.156084917G>A g.156115126G>A - - LMNA_000488 VKGL data sharing initiative Nederland van Tienen, submitted - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Nijmegen, Florence van Tienen
?/. 1 - c.215G>A r.(?) p.(Arg72His) - VUS g.156084924G>A g.156115133G>A LMNA(NM_170707.2):c.215G>A (p.R72H) - LMNA_000559 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 1 c.236C>A r.(?) p.(Ala79Asp) - VUS g.156084945C>A g.156115154C>A - - LMNA_000490 VKGL data sharing initiative Nederland van Tienen, submitted - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Nijmegen, Florence van Tienen
+/. 1 1 c.244G>A r.(?) p.(Glu82Lys) - pathogenic g.156084953G>A g.156115162G>A - - LMNA_000170 - PubMed: Wang 2005, PubMed: Wang 2006 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.245A>C r.(?) p.(Glu82Ala) - likely pathogenic g.156084954A>C g.156115163A>C LMNA(NM_170707.2):c.245A>C (p.E82A) - LMNA_000486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 1 c.247delinsCC r.(?) p.(Ala83Profs*11), p.(Ala83ProfsTer11) - likely pathogenic g.156084956delinsCC g.156115165delinsCC - - LMNA_000493 VKGL data sharing initiative Nederland van Tienen, submitted - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Nijmegen, Florence van Tienen
-/. 1 - c.249C>T r.(?) p.(Ala83=) - benign g.156084958C>T g.156115167C>T LMNA(NM_170707.2):c.249C>T (p.A83=) - LMNA_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.253C>G r.(?) p.(Leu85Val) - likely pathogenic g.156084962C>G g.156115171C>G - - LMNA_000560 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.254T>G r.(?) p.(Leu85Arg) - pathogenic g.156084963T>G g.156115172T>G - - LMNA_000006 - PubMed: Fatkin 1999, OMIM:var0006 - rs28933090 Germline - - -SacI - - Johan den Dunnen
+/. 1 1 c.263G>T r.(?) p.(Arg89Leu) - pathogenic g.156084972G>T - Arg89Leu - LMNA_000325 1 more item PubMed: Pasotti 2008 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.266G>A r.(?) p.(Arg89His) - VUS g.156084975G>A g.156115184G>A - - LMNA_000679 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/740 cases - - - Johan den Dunnen
+/. 2 1 c.266G>T r.(?) p.(Arg89Leu) - pathogenic g.156084975G>T g.156115184G>T - - LMNA_000128 not in 300 control chromosomes PubMed: Park 2008, Parks ASHG2006 P477, PubMed: Taylor 2003, PubMed: Taylor - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.273C>A r.(?) p.(=) - VUS g.156084982C>A g.156115191C>A - - LMNA_000167 - - - - Germline - - - - - Soma Das
+/. 1 1 c.274C>T r.(?) p.(Leu92Phe) - pathogenic g.156084983C>T g.156115192C>T g.960C>T - LMNA_000276 not in 400 control chromosomes PubMed: Decaudain 2007 - - Germline - - - - - Johan den Dunnen
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