Gene entry

LMNA

lamin A/C

Chromosome: 1
Cytoband: 1q22
Variants (rsID): 200

LMNA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q22). Its official name is “lamin A/C”. The reference table lists 200 variants (rsID) for this gene.

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Clinically classified variants

195 reference-table entries with clinical significance.

rs505058Benignsingle nucleotide variantCardiovascular phenotype|Familial partial lipodystrophy, Dunnigan type|Congenital muscular dystrophy due to LMNA mutation|Hutchinson-Gilford syndrome|Dilated cardiomyopathy 1A|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Mandibuloacral dysplasia with type A lipodystrophy|Emery-Dreifuss muscular dystrophy|Charcot-Marie-Tooth disease type 2|Limb-Girdle Muscular Dystrophy, Recessive|Lethal tight skin contracture syndrome|Cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease
rs513043Benignsingle nucleotide variantHutchinson-Gilford syndrome
rs553016Benignsingle nucleotide variant
rs577492Benignsingle nucleotide variant
rs1057518971Conflicting interpretationssingle nucleotide variantCongenital muscular dystrophy|Charcot-Marie-Tooth disease type 2
rs1064796394Conflicting interpretationsDeletionCharcot-Marie-Tooth disease type 2
rs11575937Conflicting interpretationssingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Laminopathy|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Charcot-Marie-Tooth disease type 2|Monogenic diabetes|11 conditions|Cardiomyopathy|Dilated cardiomyopathy 1A
rs121912493Conflicting interpretationssingle nucleotide variantMandibuloacral dysplasia with type A lipodystrophy, atypical|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Cardiomyopathy
rs137969290Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs142191737Conflicting interpretationssingle nucleotide variantPeripheral neuropathy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1S|Cardiovascular phenotype|Cardiomyopathy|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Congenital muscular dystrophy due to LMNA mutation|Emery-Dreifuss muscular dystrophy|Lethal tight skin contracture syndrome|Dilated cardiomyopathy 1A|Mandibuloacral dysplasia with type A lipodystrophy|Charcot-Marie-Tooth disease type 2B1|Familial partial lipodystrophy, Dunnigan type|Hutchinson-Gilford syndrome|Lipodystrophy|7 conditions
rs143715750Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs144851946Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs148557956Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs150645079Conflicting interpretationssingle nucleotide variantCardiomyopathy|Charcot-Marie-Tooth disease type 2|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Lethal tight skin contracture syndrome|Mandibuloacral dysplasia with type A lipodystrophy|Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2B1|Congenital muscular dystrophy due to LMNA mutation|Hutchinson-Gilford syndrome|Dilated cardiomyopathy 1A|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Emery-Dreifuss muscular dystrophy
rs150840924Conflicting interpretationssingle nucleotide variantHutchinson-Gilford syndrome|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Cardiomyopathy
rs150924946Conflicting interpretationssingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2
rs17847242Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
rs199474724Conflicting interpretationssingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Abnormality of the musculature
rs201583907Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Left ventricular noncompaction|Cardiomyopathy|Lethal tight skin contracture syndrome|Dilated cardiomyopathy 1A
rs267607591Conflicting interpretationssingle nucleotide variantLipodystrophy|Charcot-Marie-Tooth disease type 2
rs267607629Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs267607644Conflicting interpretationssingle nucleotide variantMuscular dystrophy|Charcot-Marie-Tooth disease type 2
rs368386019Conflicting interpretationssingle nucleotide variantCongenital muscular dystrophy|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Lethal tight skin contracture syndrome
rs370219874Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs371635492Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs372011095Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs373721390Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs397517890Conflicting interpretationssingle nucleotide variantCardiomyopathy|Charcot-Marie-Tooth disease type 2
rs397517901Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Hypertrophic cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Emery-Dreifuss muscular dystrophy|Hutchinson-Gilford syndrome|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Charcot-Marie-Tooth disease type 2B1|Dilated cardiomyopathy 1A|Congenital muscular dystrophy due to LMNA mutation|Familial partial lipodystrophy, Dunnigan type|Mandibuloacral dysplasia with type A lipodystrophy|Lethal tight skin contracture syndrome|Cardiomyopathy
rs397517912Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Primary dilated cardiomyopathy|Myocarditis
rs41314035Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Mandibuloacral dysplasia with type A lipodystrophy|Limb-Girdle Muscular Dystrophy, Recessive|Hutchinson-Gilford syndrome|Dilated cardiomyopathy 1A|Lethal tight skin contracture syndrome|Emery-Dreifuss muscular dystrophy|Congenital muscular dystrophy due to LMNA mutation|Familial partial lipodystrophy, Dunnigan type|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2B1|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease
rs56851164Conflicting interpretationssingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Dilated cardiomyopathy 1A|Cardiomyopathy
rs57318642Conflicting interpretationssingle nucleotide variantMandibuloacral dysplasia with type A lipodystrophy|Hutchinson-Gilford syndrome|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Congenital muscular dystrophy due to LMNA mutation
rs57830985Conflicting interpretationssingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs58436778Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs58672172Conflicting interpretationssingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Charcot-Marie-Tooth disease|Primary dilated cardiomyopathy
rs59301204Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2
rs59885338Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease type 2|Autosomal recessive axonal hereditary motor and sensory neuropathy|Hutchinson-Gilford syndrome|Cardiomyopathy|Dilated cardiomyopathy 1A
rs60446065Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs60662302Conflicting interpretationssingle nucleotide variantInsulin-resistant diabetes mellitus AND acanthosis nigricans|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs60890628Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1A|Mandibuloacral dysplasia with type A lipodystrophy, atypical|Familial partial lipodystrophy, Dunnigan type|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Familial partial lipodystrophy|Cardiomyopathy|Charcot-Marie-Tooth disease type 2B1
rs61094188Conflicting interpretationssingle nucleotide variantCatecholaminergic polymorphic ventricular tachycardia 1|Emery-Dreifuss muscular dystrophy|Charcot-Marie-Tooth disease type 2|Primary familial dilated cardiomyopathy|Cardiomyopathy|Charcot-Marie-Tooth disease
rs61282106Conflicting interpretationssingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2
rs762836610Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
rs771623461Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs774817302Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy|Charcot-Marie-Tooth disease
rs794728586Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs80338938Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs886038906Conflicting interpretationssingle nucleotide variantCardiovascular phenotype
rs267607560Likely pathogenicsingle nucleotide variantPrimary familial dilated cardiomyopathy
rs267607594Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
rs267607600Likely pathogenicsingle nucleotide variantCongenital muscular dystrophy due to LMNA mutation
rs267607609Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2|7 conditions
rs267607632Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs397517887Likely pathogenicDeletionPrimary dilated cardiomyopathy
rs397517895Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
rs397517904Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
rs397517908Likely pathogenicDeletionPrimary dilated cardiomyopathy
rs397517909Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
rs397517911Likely pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
rs57730570Likely pathogenicsingle nucleotide variantPrimary familial dilated cardiomyopathy
rs58048078Likely pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs794728596Likely pathogenicsingle nucleotide variant
rs794728597Likely pathogenicMicrosatellitePrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs794728601Likely pathogenicsingle nucleotide variant
rs794728603Likely pathogenicDeletion
rs797045011Likely pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy|Hutchinson-Gilford syndrome|Cardiomyopathy
rs876657649Likely pathogenicsingle nucleotide variantLaminopathy
rs876657650Likely pathogenicDeletionPrimary dilated cardiomyopathy
rs879253929Likely pathogenicsingle nucleotide variant
rs879254081Likely pathogenicsingle nucleotide variant
rs1057515421Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Hypertrophic cardiomyopathy 1|Cardiomyopathy
rs1060502211Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs1060502215Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs1064793674PathogenicDeletion
rs1064794966PathogenicDeletion
rs1064796677Pathogenicsingle nucleotide variant
rs113436208Pathogenicsingle nucleotide variantHutchinson-Gilford syndrome|Restrictive dermopathy 2
rs121912495Pathogenicsingle nucleotide variantCongenital muscular dystrophy due to LMNA mutation
rs121912496Pathogenicsingle nucleotide variantCongenital muscular dystrophy due to LMNA mutation|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs1340894696Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs267607539Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs267607540PathogenicMicrosatelliteBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs267607545Pathogenicsingle nucleotide variant
rs267607547Pathogenicsingle nucleotide variantHutchinson-Gilford syndrome
rs267607552Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2|8 conditions
rs267607554Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Primary familial dilated cardiomyopathy
rs267607555Pathogenicsingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2|Monogenic diabetes|6 conditions
rs267607570Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype
rs267607571Pathogenicsingle nucleotide variantCardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Primary dilated cardiomyopathy
rs267607573Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2
rs267607577PathogenicMicrosatelliteCardiomyopathy|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs267607578Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2
rs267607581Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Primary familial hypertrophic cardiomyopathy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2
rs267607582Pathogenicsingle nucleotide variantHeart-hand syndrome, Slovenian type
rs267607587Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs267607590Pathogenicsingle nucleotide variantCardiovascular phenotype
rs267607592Pathogenicsingle nucleotide variantNeuromuscular disease|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A
rs267607593Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype
rs267607599Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs267607617Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs267607618Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs267607634Pathogenicsingle nucleotide variantMuscular dystrophy|Charcot-Marie-Tooth disease type 2
rs267607640Pathogenicsingle nucleotide variant
rs267607646PathogenicDuplicationPrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs267607649Pathogenicsingle nucleotide variant
rs28928900Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Familial partial lipodystrophy, Dunnigan type
rs28928901Pathogenicsingle nucleotide variantEmery-Dreifuss muscular dystrophy 3, autosomal recessive|Benign scapuloperoneal muscular dystrophy with cardiomyopathy
rs28928903Pathogenicsingle nucleotide variantDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
rs28933090Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A
rs28933092Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Primary dilated cardiomyopathy
rs28933093Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs386134243Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|11 conditions|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Heart-hand syndrome, Slovenian type|Laminopathy|Primary dilated cardiomyopathy|Left ventricular noncompaction|Arrhythmogenic right ventricular cardiomyopathy|Dilated cardiomyopathy 1A
rs483352811Pathogenicsingle nucleotide variantMandibuloacral dysplasia with type A lipodystrophy
rs56699480Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs56771886PathogenicDeletionDilated cardiomyopathy 1A|Benign scapuloperoneal muscular dystrophy with cardiomyopathy
rs56793579Pathogenicsingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs56816490Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Primary familial dilated cardiomyopathy|Dilated cardiomyopathy 1A
rs57077886Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Familial partial lipodystrophy, Dunnigan type|Inborn genetic diseases|Lipodystrophy
rs57207746Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs57508089Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Neuromuscular disease|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Dilated cardiomyopathy 1A
rs57920071Pathogenicsingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Inborn genetic diseases|Familial partial lipodystrophy
rs57983345Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs58327533Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs58389804PathogenicDeletionPrimary dilated cardiomyopathy
rs58596362Pathogenicsingle nucleotide variantHutchinson-Gilford syndrome|Primary dilated cardiomyopathy|Hutchinson-Gilford syndrome|Charcot-Marie-Tooth disease type 2|Restrictive dermopathy 2
rs58912633Pathogenicsingle nucleotide variantCongenital muscular dystrophy due to LMNA mutation
rs58917027Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Inborn genetic diseases|Charcot-Marie-Tooth disease type 2
rs58922911Pathogenicsingle nucleotide variantDilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
rs58932704Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2|Muscular dystrophy|Dilated cardiomyopathy 1A|Abnormality of the musculature
rs58978449PathogenicMicrosatellitePrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs59026483Pathogenicsingle nucleotide variantDilated cardiomyopathy 1S|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype
rs59270054Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2
rs59332535Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy|Dilated cardiomyopathy 1A|Muscular dystrophy|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2B1|Abnormality of the musculature
rs59564495PathogenicDeletionPrimary dilated cardiomyopathy
rs59886214Pathogenicsingle nucleotide variantHutchinson-Gilford syndrome
rs59914820Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs60310264Pathogenicsingle nucleotide variantHutchinson-Gilford progeria syndrome, atypical|Hutchinson-Gilford syndrome
rs60458016Pathogenicsingle nucleotide variantCongenital muscular dystrophy due to LMNA mutation|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Charcot-Marie-Tooth disease type 2|Muscular dystrophy|Emery-Dreifuss muscular dystrophy
rs60580541Pathogenicsingle nucleotide variantMandibuloacral dysplasia with type A lipodystrophy
rs60652225Pathogenicsingle nucleotide variantHutchinson-Gilford progeria syndrome, childhood-onset
rs60682848Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
rs60872029PathogenicDeletionCongenital muscular dystrophy due to LMNA mutation|Charcot-Marie-Tooth disease type 2
rs60934003Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs61046466Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy|Primary dilated cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy
rs61064130Pathogenicsingle nucleotide variantHutchinson-Gilford syndrome
rs61195471Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Primary dilated cardiomyopathy|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|8 conditions
rs61214927Pathogenicsingle nucleotide variantFamilial partial lipodystrophy, Dunnigan type
rs61235244Pathogenicsingle nucleotide variant
rs61295588Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2
rs61444459Pathogenicsingle nucleotide variantCardiovascular phenotype|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Hutchinson-Gilford syndrome
rs61661343Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2
rs61672878Pathogenicsingle nucleotide variantMuscular dystrophy|Charcot-Marie-Tooth disease type 2|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|Sudden unexplained death
rs730880132Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy
rs730882262Pathogenicsingle nucleotide variantHutchinson-Gilford progeria syndrome, childhood-onset|Right ventricular cardiomyopathy
rs794728589Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs794728593Pathogenicsingle nucleotide variantPrimary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A
rs794728594Pathogenicsingle nucleotide variant
rs794728595Pathogenicsingle nucleotide variant
rs794728606PathogenicDeletion
rs794728607PathogenicDeletion
rs794728609PathogenicDuplication
rs794728613Pathogenicsingle nucleotide variantDilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2
rs797044487Pathogenicsingle nucleotide variantHutchinson-Gilford progeria syndrome, atypical|Hutchinson-Gilford syndrome
rs797044488Pathogenicsingle nucleotide variantHutchinson-Gilford progeria syndrome, atypical|Hutchinson-Gilford syndrome
rs797044758PathogenicInsertionCharcot-Marie-Tooth disease type 2
rs79907212Pathogenicsingle nucleotide variantHutchinson-Gilford progeria syndrome, atypical
rs863225024PathogenicDuplicationFamilial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2
rs864309525PathogenicDeletionCongenital muscular dystrophy due to LMNA mutation|Charcot-Marie-Tooth disease type 2
rs876661352PathogenicDeletion
rs878853220Pathogenicsingle nucleotide variantBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs878855234Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs879253913PathogenicDeletion
rs879253932PathogenicDeletionCharcot-Marie-Tooth disease type 2
rs879254082Pathogenicsingle nucleotide variant
rs201227908Uncertain significancesingle nucleotide variantCongenital muscular dystrophy due to LMNA mutation
rs267607548Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs267607561Uncertain significancesingle nucleotide variantCollapse (finding)|Family history of sudden cardiac death|Charcot-Marie-Tooth disease type 2
rs267607563Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs397517893Uncertain significancesingle nucleotide variant
rs56657623Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2|Cardiomyopathy
rs59040894Uncertain significancesingle nucleotide variant
rs727505038Uncertain significancesingle nucleotide variant
rs786205448Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease type 2
rs113860699Not classifiedsingle nucleotide variantHutchinson-Gilford syndrome
rs267607543Not classifiedsingle nucleotide variant
rs267607557Not classifiedsingle nucleotide variant
rs267607588Not classifiedsingle nucleotide variant
rs267607623Not classifiedsingle nucleotide variant
rs58362413Not classifiedsingle nucleotide variant
rs59267781Not classifiedsingle nucleotide variantHutchinson-Gilford syndrome
rs797044485Not classifiedsingle nucleotide variantHutchinson-Gilford syndrome
rs797044486Not classifiedsingle nucleotide variantHutchinson-Gilford syndrome
rs80356807Not classifiedsingle nucleotide variant
rs80356814Not classifiedsingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.