ClinVar Miner

List of variants studied for familial partial lipodystrophy by New York Genome Center

Included ClinVar conditions (24):

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; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Familial partial lipodystrophy, Dunnigan type; 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; Laminopathy; 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; 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; Familial partial lipodystrophy, Dunnigan type
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy
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; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
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; Inherited obesity
PPARG-related familial partial lipodystrophy; CAROTID INTIMAL MEDIAL THICKNESS 1; Type 2 diabetes mellitus; Obesity
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus; Inherited obesity
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

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Minimum conflict level: Report conflict between different conditions
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	rs142000963	0.00116
NM_138711.6(PPARG):c.391-3C>T	rs370830238	0.00017
NM_170707.4(LMNA):c.357-3669G>A	rs771758867	0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00002
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys)	rs1354592503	0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	rs56657623	0.00001
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)	rs752598065	0.00001
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	rs60580541
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)	rs1250355311

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