ClinVar Miner

List of variants reported as likely pathogenic for congenital muscular dystrophy due to LMNA mutation

Included ClinVar conditions (11):

Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation
Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation
Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	rs386134243	0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642	0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	rs57830985	0.00001
NM_170707.4(LMNA):c.1381-2A>G	rs267607600
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn)	rs267607608
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)	rs2102898301
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	rs2102817952
NM_170707.4(LMNA):c.215G>C (p.Arg72Pro)
NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)	rs1553261858
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile)	rs863225270
NM_170707.4(LMNA):c.822del (p.Arg275fs)	rs2102883169
NM_170707.4(LMNA):c.91_93del (p.Glu31del)	rs864309525
NM_170707.4(LMNA):c.937-22_937-10del	rs886043199
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	rs1553261891

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.