ClinVar Miner

List of variants studied for familial partial lipodystrophy by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (17):

Autosomal semi-dominant severe lipodystrophic laminopathy
CIDEC-related familial partial lipodystrophy
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; Familial partial lipodystrophy, Dunnigan type
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
Familial partial lipodystrophy
Familial partial lipodystrophy, Dunnigan type
LIPE-related familial partial lipodystrophy
Lipodystrophy, familial partial, type 8
Lipodystrophy, familial partial, type 9
PLIN1-related familial partial lipodystrophy
PPARG-related familial partial lipodystrophy
PPARG-related familial partial lipodystrophy; Carotid intimal medial thickness 1; Type 2 diabetes mellitus; Obesity
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus
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
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)	rs150924946	0.00016
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	rs11575937	0.00001

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