All variants in the LMNA gene

Information The variants shown are described using the NM_170707.2 transcript reference sequence.

475 entries on 5 pages. Showing entries 1 - 100.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Type     
DNA change (genomic) (hg19)     
Reference     
DB-ID     
Frequency     
Variant remarks     
ClassClinical     
Owner     
./. 01 c.-3_12del15 - p.? Deletion - GenBank LMNA_00101 - - - Qi Ming
./. 08 c.1458G>T/C - p.Lys486Asn Substitution - GenBank LMNA_00250 - - - Qi Ming
./. 10 c.1609 - - Substitution - GenBank LMNA_00183 - This new heart - Qi Ming
./. 11 c.1761G>? - p.Leu587Leu Substitution - GenBank LMNA_00244 - LMNA genetic variant identified by HRM analysis - Qi Ming
./. 11 c.1824C>? - p.Gly608Gly Substitution - GenBank LMNA_00098 - The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics. - Qi Ming
./. 02 c.357C>? - p.Arg119Arg Substitution - GenBank LMNA_00161 - genetic variant identified by HRM analysis - Qi Ming
./. 03 c.585C>G/A - p.Asn195Lys Substitution - GenBank LMNA_00255 - - - Qi Ming
./. 04 c.780G>C/T - p.Lys260Asn Substitution - GenBank LMNA_00257 - - - Qi Ming
./. 05 c.861T>? - p.Ala287Ala Substitution - GenBank LMNA_00243 - LMNA genetic variant identified by HRM analysis - Qi Ming
./. 01 c.? - p.? Deletion - GenBank LMNA_00225 - This novel LMNA deletion causes a distinct, highly malignant cardiomyopathy with early-onset primary cardiac fibrosis likely due to an effect of the shortened mutant protein, which secondarily leads to arrhythmias and end-stage cardiac failure - Qi Ming
./. 00 c.? - p.? Substitution - GenBank LMNA_00087 - The presence of short inverted sequence homologies at the breakpoint junctions suggested a mutational event involving serial replication slippage in trans during DNA replication. - Qi Ming
./. 01 c.11C>G - p.Pro4Arg Substitution - GenBank LMNA_00187 - APS patients have a few overlapping but some distinct clinical features as comparedrnwith HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa-rntients seems not to be related to accumulation of mutant farnesylated prelamin A. - Qi Ming
./. 01 c.16C>T - p.Gln6X Substitution - GenBank LMNA_00004 - This transition predicts a truncated lamin A/C composed of only the five amino-terminal amino acids. The mutation creates a new BfaI site, which was used to screen all family members. - Qi Ming
./. 01 c.16C>T - p.Gln6fsX Substitution - GenBank LMNA_00004 - - - Qi Ming
./. 01 c.28_29insA - p.Thr10AsnfsX31 Insertion - GenBank LMNA_00053 - This is a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. - Qi Ming
./. 01 c.29C>T - p.Thr10Ile Substitution - GenBank LMNA_00113 - These patients extend the spectrum of abnormal phenotypes caused by LMNA mutations, which may complicate the clinical diagnosis of some patients with laminopathies, but suggest that LMNA is a good candidate for evaluation in patients with other atypical progeria phenotypes - Qi Ming
./. 01 c.29C>T - p.Thr10Ile Substitution - GenBank LMNA_00113 - APS patients have a few overlapping but some distinct clinical features as compared with HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa- tients seems not to be related to accumulation of mutant farnesylated prelamin A. - Qi Ming
./. 01 c.29C>T - p.Thr10Ile Substitution - GenBank LMNA_00113 - - - Qi Ming
./. 01 c.31del - p.Arg11AlafsX85 Deletion - GenBank LMNA_00197 - - - Qi Ming
./. 01 c.31delC - p.Arg11AlafsX85 Deletion - GenBank LMNA_00051 - The mutation leads to frame shift change. - Qi Ming
./. 01 c.51C>T - p.Ser17Ser Substitution - GenBank LMNA_00242 - genetic variant identified by HRM analysis - Qi Ming
./. 01 c.73C>G - p.Arg25Gly Substitution - GenBank LMNA_00101 - - - Qi Ming
./. 01 c.73C>G - p.Arg25Gly Substitution - GenBank LMNA_00101 - - - Qi Ming
./. 01 c.73C>G - p.Arg25Gly Substitution - GenBank LMNA_00101 - The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene - Qi Ming
./. 01 c.73C>T - p.Arg25Cys Substitution - GenBank LMNA_00122 - - - Qi Ming
./. 01 c.74G>C - p.Arg25Pro Substitution - GenBank LMNA_00012 - The presence of this mutation removes a SfaNI recognition site from the exon 1 amplication product. - Qi Ming
./. 01 c.82C>T - p.Arg28Trp Substitution - GenBank LMNA_00078 - - - Qi Ming
./. 01 c.82C>T - p.Arg28Trp Substitution - GenBank LMNA_00078 - - - Qi Ming
./. 01 c.82C>T - p.Arg28Trp Substitution - GenBank LMNA_00078 - - - Qi Ming
./. 01 c.82C>T - p.Arg28Trp Substitution - GenBank LMNA_00078 - - - Qi Ming
./. 01 c.94_96delAAG - p.Lys32del Deletion - GenBank LMNA_00088 - - - Qi Ming
./. 01 c.94_96delAAG - p.Lys32del Deletion - GenBank LMNA_00088 - - - Qi Ming
./. 01 c.98A>G - p.Glu33Gly Substitution - GenBank LMNA_00109 - To our knowledge, this is the first LMNA mutation to bernfound in an autosomal dominant form of CMT2, andrnimplies that LMNA is responsible for both autosomalrndominant and recessive forms of axonal Charcot-rnMarie-Tooth disease. - Qi Ming
./. 01 c.103C>G - p.Leu35Val Substitution - GenBank LMNA_00102 - - - Qi Ming
./. 01 c.103C>G - p.Leu35Val Substitution - GenBank LMNA_00102 - The fact that the p.L35P change leads to an L-CMD phenotype, whereas the p.L35V mutation leads to an EDMD phenotype, further demonstrates the challenge in predicting phenotype/ genotype correlations in laminopathies - Qi Ming
./. 01 c.104T>C - p.Leu35Pro Substitution - GenBank LMNA_00221 - The fact that the p.L35P change leads to an L-CMD phenotype, whereas the p.L35V mutation leads to an EDMD phenotype, further demonstrates the challenge in predicting phenotype/ genotype correlations in laminopathies - Qi Ming
./. 01 c.115A>T - p.Asn39Tyr Substitution - GenBank LMNA_00204 - it had notrnbeen identified previously, (ii) it was absent in more thanrn1000 normal chromosomes, and (iii) it concerns a highlyrnconserved nucleotide and amino acid within the LMNArngene and the lamin A/C protein. - Qi Ming
./. 01 c.127G>A - p.Ala43Thr Substitution - GenBank LMNA_00019 - lamin A/C proteins with alteration at positions 43 may be defective in protein oligomerization. - Qi Ming
./. 01 c.134A>G - p.Tyr45Cys Substitution - GenBank LMNA_00061 - - - Qi Ming
./. 01 c.139G>C - p.Asp47His Substitution - GenBank LMNA_00129 - - - Qi Ming
./. 01 c.139G>T - p.Asp47Tyr Substitution - GenBank LMNA_00190 - patient with the LMNA D47Y mutation exhibited clinical signs of premature ageing - Qi Ming
./. 01 c.148C>A - p.Arg50Ser Substitution - GenBank LMNA_00013 - The C148A mutation creates an additional AluI restriction endonuclease site within the exon 1 amplimer, allowing the rapid detection of this mutation in his daughter, who presented at age 24 with isolated quadricep weakness, and at age 28 with atrial and ventricular extrasystoles with no AV block. - Qi Ming
./. 01 c.148C>A - p.Arg50Ser Substitution - GenBank LMNA_00013 - The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics. - Qi Ming
./. 01 c.148C>A - p.Arg50Ser Substitution - GenBank LMNA_00013 - The first report to suggest that the A-type lamin mutations may be differentially dysfunctional for the same LMNA mutation. - Qi Ming
./. 01 c.149G>C - p.Arg50Pro Substitution - GenBank LMNA_00062 - - - Qi Ming
./. 01 c.155T>C - p.Leu52Pro Substitution - GenBank LMNA_00136 - - - Qi Ming
./. 01 c.157G>A - p.Glu53Val Substitution - GenBank LMNA_00102 - - - Qi Ming
./. 01 c.178C>G - p.Arg60Gly Substitution - GenBank LMNA_00009 - Mutation Arg60Gly creates Sau 96I restriction enzyme site. - Qi Ming
./. 01 c.178C>G - p.Arg60Gly Substitution - GenBank LMNA_00009 - It does not led to an increased loss of emerin from the nuclear envelope, compared to wild-type. - Qi Ming
./. 01 c.178C>G - p.Arg60Gly Substitution - GenBank LMNA_00009 - The findings demonstrate that the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation is associated with a novel phenotype featuring cardiac involvement followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy. - Qi Ming
./. 01 c.178C>G - p.Arg60Gly Substitution - GenBank LMNA_00009 - - - Qi Ming
./. 01 c.184C>G - p.Arg62Gly Substitution - GenBank LMNA_00079 - - - Qi Ming
./. 01 c.184C>G - p.Arg62Gly Substitution - GenBank LMNA_00079 - - - Qi Ming
./. 01 c.188T>A - p.Ile63Asn Substitution - GenBank LMNA_00076 - - - Qi Ming
./. 01 c.188T>A - p.Ile63Asn Substitution - GenBank LMNA_00076 - - - Qi Ming
./. 01 c.188T>G - p.Ile63Ser Substitution - GenBank LMNA_00063 - - - Qi Ming
./. 01 c.188T>G - p.Ile63Ser Substitution - GenBank LMNA_00063 - - - Qi Ming
./. 01 c.202_207del - p.Glu68_Val69del Deletion - GenBank LMNA_00247 - - - Qi Ming
./. 01 c.244G>A - p.Glu82Lys Substitution - GenBank LMNA_00099 - - - Qi Ming
./. 01 c.244G>A - p.Glu82Lys Substitution - GenBank LMNA_00099 - - - Qi Ming
./. 01 c.244G>A - p.Glu82Lys Substitution - GenBank LMNA_00099 - - - Qi Ming
./. 01 c.254T>G - p.Leu85Arg Substitution - GenBank LMNA_00008 - The Leu85Arg mutation (in Family C) abolishes a Sac I restriction-enzyme site. - Qi Ming
./. 01 c.254T>G - p.Leu85Arg Substitution - GenBank LMNA_00008 - Of the four lamin A mutants that we have examined,only lamin A L85R (LaA L85R) showed any obvious preponderance of lamin A0 over mature lamin A (1.6-fold relative to wild-type). - Qi Ming
./. 01 c.254T>G - p.Leu85Arg Substitution - GenBank LMNA_00008 - - - Qi Ming
./. 01 c.266G>T - p.Arg89Leu Substitution - GenBank LMNA_00030 - The subsititution leads to Arg89Leu. - Qi Ming
./. 01 c.266G>T - p.Arg89Leu Substitution - GenBank LMNA_00030 - - - Qi Ming
./. 01 c.266G>T - p.Arg89Leu Substitution - GenBank LMNA_00030 - - - Qi Ming
./. 01 c.266G>T - p.Arg89Leu Substitution - GenBank LMNA_00030 - - - Qi Ming
./. 01 c.274C>T - p.Leu92Phe Substitution - GenBank LMNA_00191 - - - Qi Ming
./. 01 c.274C>T - p.Leu92Phe Substitution - GenBank LMNA_00191 - They exhibited prelamin A accumulation, increased oxidative stress, decreased expression of mitochondrial respiratory chain proteins and premature cellular senescence - Qi Ming
./. 01 c.274C>T - p.Leu92Phe Substitution - GenBank LMNA_00191 - - - Qi Ming
./. 01 c.289A>G - p.Lys97Glu Substitution - GenBank LMNA_00025 - The presence of the mutation can be seen in the normal person of the patients' family. - Qi Ming
./. 01 c.289A>G - p.Lys97Glu Substitution - GenBank LMNA_00025 - The mutation transforms Lys to Glu. - Qi Ming
./. 01 c.289A>G - p.Lys97Glu Substitution - GenBank LMNA_00025 - - - Qi Ming
./. 01 c.302G>C - p.Arg101Pro Substitution - GenBank LMNA_00190 - - - Qi Ming
./. 01 c.302G>C - p.Arg101Pro Substitution - GenBank LMNA_00190 - - - Qi Ming
./. 01 c.302G>C - p.Arg101Pro Substitution - GenBank LMNA_00190 - This is the first report of limb girdle muscular dystrophy with cardiac disorders shown to harbor a mutation of the lamin A/C gene in a Taiwanese family. - Qi Ming
./. 01 c.305T>C - p.Leu102Pro Substitution - GenBank LMNA_00142 - - - Qi Ming
./. 01 c.331G>A - p.Glu111Lys Substitution - GenBank LMNA_00109 - APS patients have a few overlapping but some distinct clinical features as compared with HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa- tients seems not to be related to accumulation of mutant farnesylated prelamin A. - Qi Ming
./. 01 c.331G>T - p.Glu111X Substitution - GenBank LMNA_00024 - The presence of the mutation can be seen in the normal person of the patients' family. - Qi Ming
./. 01 c.331G>T - p.Glu111fsX Substitution - GenBank LMNA_00024 - - - Qi Ming
./. 01 c.334_336delGAG - p.Glu112del Deletion - GenBank LMNA_00064 - - - Qi Ming
./. 01 c.334_336delGAG - p.Glu112del Deletion - GenBank LMNA_00064 - - - Qi Ming
./. 02 c.357-20C>T - - Substitution - GenBank LMNA_00160 - genetic variant identified by HRM analysis - Qi Ming
./. 02 c.357-1G>A - - Substitution - GenBank LMNA_00205 - - - Qi Ming
./. 02 c.357-1G>T - - Substitution - GenBank LMNA_00251 - - - Qi Ming
./. 02 c.374G>C - p.Gly125Ala Substitution - GenBank LMNA_00143 - - - Qi Ming
./. 02 c.383_384ins24 - p.Ile128_Ala129insRVTLISSR Insertion - GenBank LMNA_00245 - A cohort of 64 patients with dilated cardiomyopathy was prospectively screened using both HRM and DHPLC methodologies. - Qi Ming
./. 02 c.394G>C - p.Ala132Pro Substitution - GenBank LMNA_00210 - novel mutation - Qi Ming
./. 02 c.398G>C - p.Arg133Pro Substitution - GenBank LMNA_00020 - The G398C mutation creates/destroys recognition site for enzymes MspAI. - Qi Ming
./. 02 c.398G>C - p.Arg133Pro Substitution - GenBank LMNA_00020 - The first report to suggest that the A-type lamin mutations may be differentially dysfunctional for the same LMNA mutation. - Qi Ming
./. 02 c.398G>T - p.Arg133Leu Substitution - GenBank LMNA_00034 - Atypical Werner - Qi Ming
./. 02 c.405_425dup - p.Lys135_Leu141dup Duplication - GenBank LMNA_00189 - a novel in-frame insertion,heterozygous mutation. - Qi Ming
./. 02 c.406G>C - p.Asp136His Substitution - GenBank LMNA_00185 - APS patients have a few overlapping but some distinct clinical features as comparedrnwith HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa-rntients seems not to be related to accumulation of mutant farnesylated prelamin A. - Qi Ming
./. 02 c.419T>C - p.Leu140Pro Substitution - GenBank LMNA_00075 - - - Qi Ming
./. 02 c.419T>C - p.Leu140Pro Substitution - GenBank LMNA_00075 - - - Qi Ming
./. 02 c.427T>C - p.Ser143Pro Substitution - GenBank LMNA_00134 - A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients. Haplotype analysis strongly suggests a founder effect of this mutation. - Qi Ming
./. 02 c.427T>C - p.Ser143Pro Substitution - GenBank LMNA_00134 - - - Qi Ming
./. 02 c.428C>T - p.Ser143Phe Substitution - GenBank LMNA_00092 - - - Qi Ming
./. 02 c.433G>A - p.Glu145Lys Substitution - GenBank LMNA_00085 - The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics. - Qi Ming
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