All 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.

1532 entries on 16 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     
+/. 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 - - - 0 - Johan den Dunnen
-/. _1 c.-1242T>C r.(=) p.(=) - benign g.156083468T>C g.156113677T>C - - LMNA_000236 - PubMed: Halaschek-Wiener 2009 - - Germline - 30/94 chromosomes - 0 - Johan den Dunnen
-/. ? c.-1242T>C r.(=) p.(=) - benign g.156083468T>C g.156113677T>C - - LMNA_000236 - - - rs2485662 Germline - - - 0 - Johan den Dunnen
-/. _1 c.-1214T>C r.(=) p.(=) - benign g.156083496T>C g.156113705T>C - - LMNA_000235 - PubMed: Halaschek-Wiener 2009 - - Germline - 2/94 chromosomes - 0 - Johan den Dunnen
-/. ? c.-1214T>C r.(=) p.(=) - benign g.156083496T>C g.156113705T>C - - LMNA_000235 - - - rs2485661 Germline - - - 0 - Johan den Dunnen
-/. _1 c.-845dup r.(=) p.(=) - benign g.156083865dup g.156114074dup -845dupC - LMNA_000237 - PubMed: Halaschek-Wiener 2009 - - Germline - 1/94 chromosomes - 0 - Johan den Dunnen
-/. ? c.-845dup r.(=) p.(=) - benign g.156083865dup g.156114074dup -845dupC - LMNA_000237 - - - rs28365858 Germline - - - 0 - Johan den Dunnen
+?/. _1_12_ c.(?_-249)_(*981_?)del r.0 p.0 - likely pathogenic g.? - - - LMNA_000098 6 Mb deletion PubMed: Eriksson - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-128T>C r.(?) p.(=) - pathogenic g.156084582T>C g.156114791T>C - - LMNA_000159 not in 150 control chromosomes PubMed: D Amico 2005, Sara Benedetti 2005 - - De novo - - - 0 - Johan den Dunnen
-/. 1 c.-128T>C r.(?) p.(=) - benign g.156084582T>C g.156114791T>C - - LMNA_000159 not in 150 control chromosomes PubMed: D Amico 2005, Sara Benedetti 2005 - - Germline - - - 0 - Johan den Dunnen
-/. - c.-88G>T r.(?) p.(=) - benign g.156084622G>T g.156114831G>T - - LMNA_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - 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 c.-3_12del r.(?) p.0? - pathogenic g.156084707_156084721del g.156114916_156114930del - - LMNA_000151 - PubMed: Walter 2005 - - Germline - - - 0 - Johan den Dunnen
?/. 5'UTR c.-1C>A r.(?) p.(=) - VUS g.156084709C>A g.156114918C>A - - LMNA_000502 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - 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 - - - 0 - VKGL-NL_AMC
?/. 1 c.3G>T r.(?) p.0? - VUS g.156084712G>T g.156114921G>T Met1Ile - LMNA_000252 - - - - Germline - - - 0 - Tom Winder
+?/. 1 c.3G>T r.(?) p.0? - likely pathogenic g.156084712G>T g.156114921G>T M1? - LMNA_000252 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/. 1 c.5A>G r.(?) p.(Glu2Gly) - benign g.156084714A>G g.156114923A>G - - LMNA_000136 - - - rs11549669 Germline - - - 0 - Johan den Dunnen
?/. - 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
+/. 1 c.16C>T r.(?) p.(Gln6*) - pathogenic g.156084725C>T g.156114934C>T - - LMNA_000001 - PubMed: Bonne, PubMed: Becane, OMIM:var0001 - - Germline - - +BfaI 0 - Johan den Dunnen
+/. - c.16C>T r.(?) p.(Gln6*) - pathogenic g.156084725C>T g.156114934C>T - - LMNA_000001 - PubMed: Walsh 2017 - - Germline - 1/740 cases - 0 - Johan den Dunnen
+/. 1 c.29C>T r.(?) p.(Thr10Ile) - pathogenic g.156084738C>T g.156114947C>T - - LMNA_000108 - PubMed: Csoka - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.29C>T r.(?) p.(Thr10Ile) - pathogenic g.156084738C>T g.156114947C>T - - LMNA_000108 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 1 c.31del r.(?) p.(Arg11Alafs*85) - pathogenic g.156084740del g.156114949del delC31 (Thr10fs*85) - LMNA_000328 - PubMed: Pasotti 2008 - - Germline yes - - 0 - Johan den Dunnen
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_AMC
-/-? 1 c.51C>T r.(=) p.(=) - benign g.156084760C>T g.156114969C>T - - LMNA_000135 - - - rs11549668 Germline - - - 0 - Andreas Laner
-/. - c.51C>T r.(?) p.(Ser17=) - benign g.156084760C>T g.156114969C>T LMNA(NM_170707.2):c.51C>T (p.S17=) - LMNA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.51C>T r.(?) p.(Ser17=) - benign g.156084760C>T g.156114969C>T LMNA(NM_170707.2):c.51C>T (p.S17=) - LMNA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.51C>T r.(?) p.(Ser17=) - benign g.156084760C>T g.156114969C>T LMNA(NM_170707.2):c.51C>T (p.S17=) - LMNA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 1 c.51C>T r.51c>u p.(=) - benign g.156084760C>T g.156114969C>T - - LMNA_000135 - PubMed: Sebillon - rs11549668 Germline - - - 0 - Johan den Dunnen
+?/. 1 c.51C>T r.(?) p.(=) - likely pathogenic g.156084760C>T g.156114969C>T Ser17Ser - LMNA_000135 unclassified variant - - rs11549668 Germline - - - 0 - Birgit Neitzel
-/. 1 c.51C>T r.(?) p.(=) - benign g.156084760C>T g.156114969C>T - - LMNA_000135 - from website {DBsub-Emory} - rs11549668 Unknown - - - 0 - Madhuri Hegde
-/. 1 c.51C>T r.(?) p.(=) - benign g.156084760C>T g.156114969C>T - - LMNA_000135 no homozygous individuals PubMed: Gaudy-Marqueste 2009 - rs11549668 Germline - 3/254 chromosomes - 0 - Johan den Dunnen
-/. - c.51C>T r.(?) p.(Ser17=) - benign g.156084760C>T g.156114969C>T LMNA(NM_170707.2):c.51C>T (p.S17=) - LMNA_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - 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 - 0 - Mohammed Faruq
+/. 1 c.65C>T r.(?) p.(Ser22Leu) - pathogenic g.156084774C>T g.156114983C>T - - LMNA_000153 - PubMed: Pethig 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.65_66delinsT r.(?) p.(Ser22Phefs*74) - pathogenic g.156084774_156084775delinsT g.156114983_156114984delinsT - - LMNA_000503 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 1 c.71C>G r.(?) p.(Thr24Ser) - likely pathogenic g.156084780C>G g.156114989C>G - - LMNA_000354 - - - - Germline yes - - 0 - Zohreh Fattahi
+?/. 1 c.71C>G r.(?) p.(Thr24Ser) - likely pathogenic g.156084780C>G g.156114989C>G - - LMNA_000354 - - - - Germline yes - - 0 - Zohreh Fattahi
?/. - 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 - - - 0 - VKGL-NL_Groningen
?/. - 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_Nijmegen
-/. - 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
+/. 1 c.73C>G r.(?) p.(Arg25Gly) - pathogenic g.156084782C>G g.156114991C>G - - LMNA_000092 - PubMed: Vytopil 2003 - - Germline - - - 0 - Johan den Dunnen
?/. - c.73C>G r.(?) p.(Arg25Gly) - VUS g.156084782C>G g.156114991C>G - - LMNA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.73C>T r.(?) p.(Arg25Cys) - likely pathogenic g.156084782C>T g.156114991C>T - - LMNA_000288 not in 600 control chromosomes PubMed: van Tintelen 2007 - - Germline - - - 0 - Johan den Dunnen
?/. - c.73C>T r.(?) p.(Arg25Cys) - VUS g.156084782C>T g.156114991C>T - - LMNA_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.74C>G - p.Arg25Pro - NA g.156084783C>G - - - LMNA_000349 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Scherner 2011 - - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. - c.74del r.(?) p.(Arg25ProfsTer71) - VUS g.156084783del g.156114992del - - LMNA_000555 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.74G>C r.(?) p.(Arg25Pro) - pathogenic g.156084783G>C g.156114992G>C - - LMNA_000064 - PubMed: Brown - - Germline - - -SfaNI 0 - Johan den Dunnen
+/. - c.74G>C r.(?) p.(Arg25Pro) - pathogenic g.156084783G>C g.156114992G>C - - LMNA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - 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
+?/. - c.77del r.(?) p.(Ile26ThrfsTer70) - likely pathogenic g.156084786del g.156114995del - - LMNA_000614 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.77T>G r.(?) p.(Ile26Ser) - VUS g.156084786T>G g.156114995T>G - - LMNA_000213 - - - - Germline - - - 0 - Lab Müller-Reible
-?/. - 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 c.80C>T r.(?) p.(Thr27Ile) - pathogenic g.156084789C>T g.156114998C>T - - LMNA_000132 not in 266 control chromosomes - - - Germline - - HphI 0 - Rosário dos Santos
+/. 1 c.82C>G r.(?) p.(Arg28Trp) - pathogenic g.156084791C>G g.156115000C>G Arg28Trp - LMNA_000324 - PubMed: Pasotti 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. 1 c.82C>T r.(?) p.(Arg28Trp) - pathogenic g.156084791C>T g.156115000C>T - - LMNA_000052 - - - - Germline - - - 0 - Lab Müller-Reible
+/. 1 c.82C>T r.(?) p.(Arg28Trp) - pathogenic g.156084791C>T g.156115000C>T - - LMNA_000052 - PubMed: Garg 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 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 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.83G>A r.(?) p.(Arg28Gln) - pathogenic g.156084792G>A g.156115001G>A - - LMNA_000261 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.83G>A r.(?) p.(Arg28Gln) - pathogenic g.156084792G>A g.156115001G>A R28Q - LMNA_000261 not in 300 control chromosomes; probably de novo, parents not available PubMed: Komaki 2011 - - Unknown - - - 0 - Johan den Dunnen
?/. 1 c.83G>A r.(?) p.(Arg28Gln) - VUS g.156084792G>A g.156115001G>A - - LMNA_000261 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.83G>A r.(?) p.(Arg28Gln) - VUS g.156084792G>A g.156115001G>A - - LMNA_000261 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1 c.91G>A r.(?) p.(Glu31Lys) ACMG pathogenic (dominant) g.156084800G>A g.156115009G>A - - LMNA_000646 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 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 - - - 0 - Johan den Dunnen
+/. 1 c.94A>G r.(?) p.(Lys32Glu) ACMG pathogenic (dominant) g.156084803A>G g.156115012A>G - - LMNA_000648 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del 94_96delAGA - LMNA_000059 - PubMed: O'Grady 2016 - - De novo - - - 0 - Sandra Cooper
+/. - c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - - - - Germline/De novo (untested) - - - 0 - Florence van Tienen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - Lacene, Neuromuscul.Disord. 12: 722 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - PubMed: D Amico 2005, Sara Benedetti 2005 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - PubMed: Muchir - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Vytopil, PubMed: Vytopil 2003, PubMed: Sanna - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del K32del - LMNA_000059 de novo, in patient Sara Benedetti 2005, PubMed: D Amico 2005, PubMed: Quijano-Roy 2008 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del K32del - LMNA_000059 probably de novo, parents not available PubMed: Komaki 2011 - - Unknown - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.94_96del r.(?) p.(Lys32del) - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.94_96del r.(?) p.(Lys32del) ACMG pathogenic g.156084803_156084805del g.156115012_156115014del c.94_96delAAG - LMNA_000059 ACMG PM1, PM2, PM4, PP5 PubMed: Özyilmaz 2019 - rs60872029 Germline - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 ACMG PM2, PM6, PP2, PP3 PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.95A>C r.(?) p.(Lys32Thr) ACMG pathogenic (dominant) g.156084804A>C g.156115013A>C - - LMNA_000649 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.96G>T r.(?) p.(Lys32Asn) ACMG pathogenic (dominant) g.156084805G>T g.156115014G>T - - LMNA_000650 - PubMed: Fan 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.98A>G r.(?) p.Glu33Gly - pathogenic g.156084807A>G g.156115016A>G - - LMNA_000215 - PubMed: Lo 2008 - - Germline - ? ? 0 - Maria Chiotis
+?/. 1 c.99G>C r.(?) p.(Glu33Asp) - likely pathogenic g.156084808G>C g.156115017G>C - - LMNA_000504 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 1 c.99G>T r.(?) p.(Glu33Asp) - pathogenic g.156084808G>T g.156115017G>T - - LMNA_000104 - PubMed: Goizet, PubMed: Vital 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 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 - - - 0 - Johan den Dunnen
?/. 1 c.100G>A r.(?) p.(Asp34Asn) - VUS g.156084809G>A g.156115018G>A - - LMNA_000505 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 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 - - - 0 - Johan den Dunnen
?/. 1 c.111G>A r.(?) p.(=) - VUS g.156084820G>A g.156115029G>A - - LMNA_000506 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 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 - - - 0 - Johan den Dunnen
+/. 1 c.116A>G r.(?) p.(Asn39Ser) - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 - PubMed: O'Grady 2016 - - De novo - - - 0 - Sandra Cooper
+/. 1 c.116A>G r.(?) p.(Asn39Ser) - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 - PubMed: O'Grady 2016 - - De novo - - - 0 - Sandra Cooper
+/. 1 c.116A>G r.(?) p.(Asn39Ser) - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 de novo, in patient PubMed: Quijano-Roy 2008 - - De novo - - - 0 - Johan den Dunnen
?/. 1 c.116A>G r.(?) p.(Asn39Ser) - VUS g.156084825A>G g.156115034A>G - - LMNA_000268 - - - - De novo - - - 0 - Wolfram Kress
+/. 1 c.116A>G r.(?) p.(Asn39Ser) - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 - - - - Unknown - - - 0 - Tom Winder
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