ClinVar Miner

List of variants in gene LMNA reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.156134478_156134482delinsACTTGAAG
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) rs397517886
NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu) rs876657649
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) rs397517887
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) rs397517888
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1296_1299GCAC[1] (p.His433_Ala434insTer) rs267607577
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.154C>G (p.Leu52Val) rs397517895
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.356+1G>C rs794728589
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170707.4(LMNA):c.476del (p.Glu159fs) rs876657650
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) rs267607594
NM_170707.4(LMNA):c.513+1G>C rs397517904
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.763del (p.Gln255fs) rs397517908
NM_170707.4(LMNA):c.778_780AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) rs397517909
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) rs397517911
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.