Full data view for gene LMNA

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.-31735+?_357-?del r.-31735_357del p.0 Parent #1 - pathogenic g.156052975_156100408del g.156083184_156130617del - - LMNA_000209 not in 300 control chromosomes PubMed: Van Tintelen 2007 - - Germline - - - 0 - DNA, RNA DGGE, MLPA, RT-PCR, SEQ, Southern - - CMD - PubMed: Nieveen 1970 patients large 4-generation family; mapped by linkage analysis - - Netherlands - - 0 - - 18 Johan den Dunnen
-/. _1 c.-1242T>C r.(=) p.(=) Unknown - benign g.156083468T>C g.156113677T>C - - LMNA_000236 - PubMed: Halaschek-Wiener 2009 - - Germline - 30/94 chromosomes - 0 - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y 0 - - 94 Johan den Dunnen
-/. ? c.-1242T>C r.(=) p.(=) Unknown - benign g.156083468T>C g.156113677T>C - - LMNA_000236 - - - rs2485662 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. _1 c.-1214T>C r.(=) p.(=) Unknown - benign g.156083496T>C g.156113705T>C - - LMNA_000235 - PubMed: Halaschek-Wiener 2009 - - Germline - 2/94 chromosomes - 0 - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y 0 - - 94 Johan den Dunnen
-/. ? c.-1214T>C r.(=) p.(=) Unknown - benign g.156083496T>C g.156113705T>C - - LMNA_000235 - - - rs2485661 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. _1 c.-845dup r.(=) p.(=) Unknown - benign g.156083865dup g.156114074dup -845dupC - LMNA_000237 - PubMed: Halaschek-Wiener 2009 - - Germline - 1/94 chromosomes - 0 - DNA SEQ - - Healthy/Control 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y 0 - - 94 Johan den Dunnen
-/. ? c.-845dup r.(=) p.(=) Unknown - benign g.156083865dup g.156114074dup -845dupC - LMNA_000237 - - - rs28365858 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. _1_12_ c.(?_-249)_(*981_?)del r.0 p.0 Parent #1 - likely pathogenic g.? - - - LMNA_000098 6 Mb deletion PubMed: Eriksson - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Eriksson deletion suggested to have arisen somatically in cell line analysed, rescuing the deleterious effect variant - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.-128T>C r.(?) p.(=) Parent #1 - pathogenic g.156084582T>C g.156114791T>C - - LMNA_000159 not in 150 control chromosomes PubMed: D Amico 2005, Sara Benedetti 2005 - - De novo - - - 0 - DNA DHPLC - - ? Pat1 PubMed: D Amico 2005, Sara Benedetti 2005 - M - Canada Italy (central) - 0 - - 1 Johan den Dunnen
-/. 1 c.-128T>C r.(?) p.(=) Parent #1 - benign g.156084582T>C g.156114791T>C - - LMNA_000159 not in 150 control chromosomes PubMed: D Amico 2005, Sara Benedetti 2005 - - Germline - - - 0 - DNA DHPLC - - ? Pat1 PubMed: D Amico 2005, Sara Benedetti 2005 identified in father and son, son with de novo pathogenic change c.94_96del - - Italy - - 0 - - 1 Johan den Dunnen
-/. - c.-88G>T r.(?) p.(=) Unknown - benign g.156084622G>T g.156114831G>T - - LMNA_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-59G>A r.(?) p.(=) Unknown - VUS g.156084651G>A g.156114860G>A - - LMNA_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-3_12del r.(?) p.0? Parent #1 - pathogenic g.156084707_156084721del g.156114916_156114930del - - LMNA_000151 - PubMed: Walter 2005 - - Germline - - - 0 - DNA DHPLC - - EDMD - PubMed: Walter 2005 - - - Germany - - 0 - - 7 Johan den Dunnen
?/. 5'UTR c.-1C>A r.(?) p.(=) Parent #1 - VUS g.156084709C>A g.156114918C>A - - LMNA_000502 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 1 c.3G>T r.(?) p.0? Unknown - VUS g.156084712G>T g.156114921G>T Met1Ile - LMNA_000252 - - - - Germline - - - 0 - DNA PCR, SEQ - - CMD - - - - - United States - - 0 - - 1 Tom Winder
+?/. 1 c.3G>T r.(?) p.0? Parent #1 - likely pathogenic g.156084712G>T g.156114921G>T M1? - LMNA_000252 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 1 c.5A>G r.(?) p.(Glu2Gly) Unknown - benign g.156084714A>G g.156114923A>G - - LMNA_000136 - - - rs11549669 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.5A>T r.(?) p.(Glu2Val) Unknown - VUS g.156084714A>T g.156114923A>T - - LMNA_000553 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.16C>T r.(?) p.(Gln6*) Parent #1 - pathogenic g.156084725C>T g.156114934C>T - - LMNA_000001 - PubMed: Bonne, PubMed: Becane, OMIM:var0001 - - Germline - - +BfaI 0 - DNA SEQ - - EDMD - PubMed: Bonne, PubMed: Becane, OMIM:var0001 5 generation family - - France - - 0 - - 17 Johan den Dunnen
+/. - c.16C>T r.(?) p.(Gln6*) Unknown - pathogenic g.156084725C>T g.156114934C>T - - LMNA_000001 - PubMed: Walsh 2017 - - Germline - 1/740 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.29C>T r.(?) p.(Thr10Ile) Parent #1 - pathogenic g.156084738C>T g.156114947C>T - - LMNA_000108 - PubMed: Csoka - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Csoka cell line (Coriell Cell Repositories) - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.29C>T r.(?) p.(Thr10Ile) Unknown - pathogenic g.156084738C>T g.156114947C>T - - LMNA_000108 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.31del r.(?) p.(Arg11Alafs*85) Parent #1 - pathogenic g.156084740del g.156114949del delC31 (Thr10fs*85) - LMNA_000328 - PubMed: Pasotti 2008 - - Germline yes - - 0 - DNA SEQ - - CMD 18926329-Fams PubMed: Pasotti 2008 family, 5 affecteds - - Italy - - 0 - - 5 Johan den Dunnen
-/. - c.33C>T r.(?) p.(Arg11=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.42G>A r.(?) p.(Ala14=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/-? 1 c.51C>T r.(=) p.(=) Parent #1 - benign g.156084760C>T g.156114969C>T - - LMNA_000135 - - - rs11549668 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.51C>T r.(?) p.(Ser17=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.51C>T r.(?) p.(Ser17=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.51C>T r.(?) p.(Ser17=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. 1 c.51C>T r.51c>u p.(=) Parent #1 - benign g.156084760C>T g.156114969C>T - - LMNA_000135 - PubMed: Sebillon - rs11549668 Germline - - - 0 - DNA, RNA RT-PCR, SSCA - - CMD - PubMed: Sebillon - - - France - - 0 - - 1 Johan den Dunnen
+?/. 1 c.51C>T r.(?) p.(=) Parent #1 - likely pathogenic g.156084760C>T g.156114969C>T Ser17Ser - LMNA_000135 unclassified variant - - rs11549668 Germline - - - 0 - DNA SEQ - - ? - - - - - (Germany) - - 0 - - 1 Birgit Neitzel
-/. 1 c.51C>T r.(?) p.(=) Unknown - benign g.156084760C>T g.156114969C>T - - LMNA_000135 - from website {DBsub-Emory} - rs11549668 Unknown - - - 0 - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 1 c.51C>T r.(?) p.(=) Unknown - benign g.156084760C>T g.156114969C>T - - LMNA_000135 no homozygous individuals PubMed: Gaudy-Marqueste 2009 - rs11549668 Germline - 3/254 chromosomes - 0 - DNA SEQ - - ? 19645629-sam PubMed: Gaudy-Marqueste 2009 patients (scleroderma) and controls - - France - - 0 - - 3 Johan den Dunnen
-/. - c.51C>T r.(?) p.(Ser17=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.64T>G r.(?) p.(Ser22Ala) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. 1 c.65C>T r.(?) p.(Ser22Leu) Parent #1 - pathogenic g.156084774C>T g.156114983C>T - - LMNA_000153 - PubMed: Pethig 2005 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Pethig 2005 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 1 c.65_66delinsT r.(?) p.(Ser22Phefs*74) Parent #1 - pathogenic g.156084774_156084775delinsT g.156114983_156114984delinsT - - LMNA_000503 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 1 c.71C>G r.(?) p.(Thr24Ser) Paternal (inferred) - likely pathogenic g.156084780C>G g.156114989C>G - - LMNA_000354 - - - - Germline yes - - 0 - DNA SEQ-NG-I - - EDMD - - - F yes Iran - - 0 - - 2 Zohreh Fattahi
+?/. 1 c.71C>G r.(?) p.(Thr24Ser) Maternal (inferred) - likely pathogenic g.156084780C>G g.156114989C>G - - LMNA_000354 - - - - Germline yes - - 0 - DNA SEQ-NG-I - - EDMD - - - F yes Iran - - 0 - - 2 Zohreh Fattahi
?/. - c.71C>T r.(?) p.(Thr24Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.71C>T r.(?) p.(Thr24Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73C>A r.(?) p.(Arg25Ser) Unknown - benign g.156084782C>A g.156114991C>A - - LMNA_000613 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.73C>G r.(?) p.(Arg25Gly) Parent #1 - pathogenic g.156084782C>G g.156114991C>G - - LMNA_000092 - PubMed: Vytopil 2003 - - Germline - - - 0 - DNA DHPLC - - EDMD - PubMed: Vytopil 2003 - - - Italy - >36y 0 - - 1 Johan den Dunnen
?/. - c.73C>G r.(?) p.(Arg25Gly) Unknown - VUS g.156084782C>G g.156114991C>G - - LMNA_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.73C>T r.(?) p.(Arg25Cys) Parent #1 - likely pathogenic g.156084782C>T g.156114991C>T - - LMNA_000288 not in 600 control chromosomes PubMed: van Tintelen 2007 - - Germline - - - 0 - DNA DGGE, SEQ - - MD 18035086-FamJ PubMed: van Tintelen 2007 2-generation family, 3 affecteds - - Netherlands - - 0 - - 3 Johan den Dunnen
?/. - c.73C>T r.(?) p.(Arg25Cys) Unknown - VUS g.156084782C>T g.156114991C>T - - LMNA_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.74C>G - p.Arg25Pro Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.74del r.(?) p.(Arg25ProfsTer71) Unknown - VUS g.156084783del g.156114992del - - LMNA_000555 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.74G>C r.(?) p.(Arg25Pro) Parent #1 - pathogenic g.156084783G>C g.156114992G>C - - LMNA_000064 - PubMed: Brown - - Germline - - -SfaNI 0 - DNA SEQ - - EDMD - PubMed: Brown - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.74G>C r.(?) p.(Arg25Pro) Unknown - pathogenic g.156084783G>C g.156114992G>C - - LMNA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75C>G r.(?) p.(Arg25=) Unknown - likely benign g.156084784C>G g.156114993C>G - - LMNA_000556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.77del r.(?) p.(Ile26ThrfsTer70) Unknown - likely pathogenic g.156084786del g.156114995del - - LMNA_000614 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.77T>G r.(?) p.(Ile26Ser) Unknown - VUS g.156084786T>G g.156114995T>G - - LMNA_000213 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - M - Germany white - 0 - - 1 Lab Müller-Reible
-?/. - c.78C>T r.(?) p.(Ile26=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80C>T r.(?) p.(Thr27Ile) Parent #1 - pathogenic g.156084789C>T g.156114998C>T - - LMNA_000132 not in 266 control chromosomes - - - Germline - - HphI 0 - DNA SEQ - - LGMD - - 11 affecteds, 4 studied, all cardiac involvement (most +pacemaker), some usually late-onset) LGMD - - Portugal - - 0 - - 11 Rosário dos Santos
+/. 1 c.82C>G r.(?) p.(Arg28Trp) Parent #1 - pathogenic g.156084791C>G g.156115000C>G Arg28Trp - LMNA_000324 - PubMed: Pasotti 2008 - - Germline yes - - 0 - DNA SEQ - - CMD 18926329-Fams PubMed: Pasotti 2008 family, 1 affected - - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.82C>T r.(?) p.(Arg28Trp) Parent #1 - pathogenic g.156084791C>T g.156115000C>T - - LMNA_000052 - - - - Germline - - - 0 - DNA SEQ - - FPLD - - - F - Germany - >40y 0 - - 1 Lab Müller-Reible
+/. 1 c.82C>T r.(?) p.(Arg28Trp) Parent #1 - pathogenic g.156084791C>T g.156115000C>T - - LMNA_000052 - PubMed: Garg 2002 - - Germline - - - 0 - DNA DHPLC - - FPLD - PubMed: Garg 2002 - - - United States white - 0 - - 1 Johan den Dunnen
+/. 1 c.82C>T r.(?) p.(Arg28Trp) Parent #1 - pathogenic g.156084791C>T g.156115000C>T g.498C>T - LMNA_000052 not in 400 control chromosomes PubMed: Decaudain 2007 - - Germline - - - 0 - DNA SEQ - - metabolic syndrome 17711925-Pat1 PubMed: Decaudain 2007 affected mother and daugther F - France white - 0 - - 2 Johan den Dunnen
+/. 1 c.83G>A r.(?) p.(Arg28Gln) Unknown - pathogenic g.156084792G>A g.156115001G>A - - LMNA_000261 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - M - United States - - 0 - - 1 Tom Winder
+/. 1 c.83G>A r.(?) p.(Arg28Gln) Parent #1 - 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 - DNA SEQ - - MYOP 21632249-Pat05 PubMed: Komaki 2011 - M no Japan - >11y 0 - - 1 Johan den Dunnen
?/. 1 c.83G>A r.(?) p.(Arg28Gln) Parent #1 - VUS g.156084792G>A g.156115001G>A - - LMNA_000261 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.83G>A r.(?) p.(Arg28Gln) Parent #1 - VUS g.156084792G>A g.156115001G>A - - LMNA_000261 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.91G>A r.(?) p.(Glu31Lys) Unknown ACMG pathogenic (dominant) g.156084800G>A g.156115009G>A - - LMNA_000646 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P3 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - 7y 0 - - 1 Johan den Dunnen
+/. 1 c.91_93del r.(?) p.(Glu31del) Unknown ACMG pathogenic (dominant) g.156084800_156084802del g.156115009_156115011del 91_93delGAG - LMNA_000647 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P9 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.94A>G r.(?) p.(Lys32Glu) Unknown ACMG pathogenic (dominant) g.156084803A>G g.156115012A>G - - LMNA_000648 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P47 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - pathogenic g.156084803_156084805del g.156115012_156115014del 94_96delAGA - LMNA_000059 - PubMed: O'Grady 2016 - - De novo - - - 0 - DNA SEQ - - MDC Pat108 PubMed: O'Grady 2016 - M - Australia - >06y 0 - - 1 Sandra Cooper
+/. - c.94_96del r.(?) p.(Lys32del) Unknown - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - EDMD2;LGMD1B 1 - - ? ? - - - 0 - - 1 Florence van Tienen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - Lacene, Neuromuscul.Disord. 12: 722 - - Germline - - - 0 - DNA SEQ - - EDMD - Lacene, Neuromuscul.Disord. 12: 722 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - PubMed: D Amico 2005, Sara Benedetti 2005 - - De novo - - - 0 - DNA DHPLC - - ? Pat1 PubMed: D Amico 2005, Sara Benedetti 2005 - M - Canada Italy (central) - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 - PubMed: Muchir - - Germline - - - 0 - DNA SEQ - - EDMD - PubMed: Muchir - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Paternal (confirmed) - pathogenic g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Vytopil, PubMed: Vytopil 2003, PubMed: Sanna - - Germline - - - 0 - DNA DHPLC - - EDMD - PubMed: Vytopil, PubMed: Vytopil 2003, PubMed: Sanna non-symptomatic carrier father F - Italy - >16y 0 - - 2 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - 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 - DNA SEQ - - MYOP 18551513-Pat09 Sara Benedetti 2005, PubMed: D Amico 2005, PubMed: Quijano-Roy 2008 6 M - Italy white >3y 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - pathogenic g.156084803_156084805del g.156115012_156115014del K32del - LMNA_000059 probably de novo, parents not available PubMed: Komaki 2011 - - Unknown - - - 0 - DNA SEQ - - MYOP 21632249-Pat07 PubMed: Komaki 2011 - F no Japan - >6y 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Parent #1 - pathogenic g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.94_96del r.(?) p.(Lys32del) Unknown - pathogenic g.156084803_156084805del g.156115012_156115014del - - LMNA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic g.156084803_156084805del g.156115012_156115014del c.94_96delAAG - LMNA_000059 ACMG PM1, PM2, PM4, PP5 PubMed: Özyilmaz 2019 - rs60872029 Germline - - - 0 - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat16 PubMed: Özyilmaz 2019 - F - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 ACMG PM2, PM6, PP2, PP3 PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P1 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - 20y 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P11 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P41 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P63 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 92_94delAGA - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P77 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.94_96del r.(?) p.(Lys32del) Unknown ACMG pathogenic (dominant) g.156084803_156084805del g.156115012_156115014del 94_96delAAG - LMNA_000059 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P81 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.95A>C r.(?) p.(Lys32Thr) Unknown ACMG pathogenic (dominant) g.156084804A>C g.156115013A>C - - LMNA_000649 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P74 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.96G>T r.(?) p.(Lys32Asn) Unknown ACMG pathogenic (dominant) g.156084805G>T g.156115014G>T - - LMNA_000650 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P68 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents F - China - - 0 - - 1 Johan den Dunnen
+/. 1 c.98A>G r.(?) p.Glu33Gly Parent #1 - pathogenic g.156084807A>G g.156115016A>G - - LMNA_000215 - PubMed: Lo 2008 - - Germline - ? ? 0 - DNA SEQ - - LGMD Pat-13 PubMed: Lo 2008 - F - Australia white - 0 - - 1 Maria Chiotis
+?/. 1 c.99G>C r.(?) p.(Glu33Asp) Parent #1 - likely pathogenic g.156084808G>C g.156115017G>C - - LMNA_000504 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.99G>T r.(?) p.(Glu33Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 1 c.99G>T r.(?) p.(Glu33Asp) Parent #1 - pathogenic g.156084808G>T g.156115017G>T - - LMNA_000104 - PubMed: Goizet, PubMed: Vital 2005 - - Germline - - - 0 - DNA DHPLC - - CMT - PubMed: Goizet, PubMed: Vital 2005 father and daughter; autosomal dominant inheritance - - France white - 0 - - 2 Johan den Dunnen
+/. 1 c.99_101del r.(?) p.(Glu33del) Unknown ACMG pathogenic (dominant) g.156084808_156084810del g.156115017_156115019del 95_97delAGG - LMNA_000651 - PubMed: Fan 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - MD P29 PubMed: Fan 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - 0 - - 1 Johan den Dunnen
?/. 1 c.100G>A r.(?) p.(Asp34Asn) Parent #1 - VUS g.156084809G>A g.156115018G>A - - LMNA_000505 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.103C>G r.(?) p.(Leu35Val) Parent #1 - 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 - DNA DHPLC - - EDMD - PubMed: Vytopil 2003, PubMed: Sanna - M - Italy - >9y 0 - - 1 Johan den Dunnen
?/. 1 c.111G>A r.(?) p.(=) Parent #1 - VUS g.156084820G>A g.156115029G>A - - LMNA_000506 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.115A>G r.(?) p.(Asn39Asp) Parent #1 - 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 - DNA SEQ - - MYOP 21632249-Pat03 PubMed: Komaki 2011 - M no Japan - >16y 0 - - 1 Johan den Dunnen
+/. 1 c.116A>G r.(?) p.(Asn39Ser) Parent #1 - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 - PubMed: O'Grady 2016 - - De novo - - - 0 - DNA SEQ - - MDC Pat92 PubMed: O'Grady 2016 - F - Australia - >21y 0 - - 1 Sandra Cooper
+/. 1 c.116A>G r.(?) p.(Asn39Ser) Parent #1 - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 - PubMed: O'Grady 2016 - - De novo - - - 0 - DNA SEQ - - MDC Pat119 PubMed: O'Grady 2016 - M - Australia - >03y 0 - - 1 Sandra Cooper
+/. 1 c.116A>G r.(?) p.(Asn39Ser) Parent #1 - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 de novo, in patient PubMed: Quijano-Roy 2008 - - De novo - - - 0 - DNA SEQ - - MYOP 18551514-Pat11 PubMed: Quijano-Roy 2008 - F - Spain white >8y 0 - - 1 Johan den Dunnen
?/. 1 c.116A>G r.(?) p.(Asn39Ser) Unknown - VUS g.156084825A>G g.156115034A>G - - LMNA_000268 - - - - De novo - - - 0 - DNA SEQ - - MYOP - - - M - - Arabic - 0 - - 1 Wolfram Kress
+/. 1 c.116A>G r.(?) p.(Asn39Ser) Unknown - pathogenic g.156084825A>G g.156115034A>G - - LMNA_000268 - - - - Unknown - - - 0 - DNA PCR, SEQ - - MDC - - - M - United States Hispanic - 0 - - 1 Tom Winder
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