Sugi Variant

Sugi Variant/LMNA

LMNA — 2240 ClinVar variants

All ClinVar germline LMNA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 890 flagged for review →

258 Pathogenic · 90 Pathogenic/Likely pathogenic · 166 Likely pathogenic · 263 Conflicting · 48 Benign · 20 Benign/Likely benign · 508 Likely benign · 887 Uncertain significance

Full LMNA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 890

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 103

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 9

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 509

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 509

Predictors split 264

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 264

All LMNA variants

Pathogenic 258

  • c.1157+2T>A Multiple submitters dilated cardiomyopathy
  • c.1380+1G>A Multiple submitters Cardiovascular phenotype
  • c.1608+1G>A Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • c.356+1G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.810+2T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala100fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala129fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala175fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala278Pro Multiple submitters muscular dystrophy
  • p.Ala441fs Multiple submitters Cardiovascular phenotype
  • p.Arg190Trp Multiple submitters LMNA-related disorder
  • p.Arg296fs Multiple submitters LMNA-related disorder
  • p.Arg321Ter Multiple submitters familial partial lipodystrophy, Dunnigan type
  • p.Arg335fs Multiple submitters Cardiovascular phenotype
  • p.Arg377His Multiple submitters LMNA-related disorder
  • p.Arg386Lys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg41His Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg48Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg527Pro Multiple submitters LMNA-related disorder
  • p.Asn195Lys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asn39Ser Multiple submitters Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Asn456Asp Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asn56fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp553fs Multiple submitters Cardiovascular phenotype
  • p.Gln184Ter Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2B
  • p.Gln234Ter Multiple submitters Cardiovascular phenotype
  • p.Gln293Ter Multiple submitters Cardiovascular phenotype
  • p.Gln353Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln354Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln355Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln493Ter Multiple submitters dilated cardiomyopathy 1A
  • p.Glu213fs Multiple submitters Cardiovascular phenotype
  • p.Glu236fs Multiple submitters dilated cardiomyopathy 1A
  • p.Glu238fs Multiple submitters Cardiovascular phenotype
  • p.Glu291Lys Multiple submitters dilated cardiomyopathy 1A
  • p.Glu2fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu2Ter Multiple submitters Cardiovascular phenotype
  • p.Glu317Ter Multiple submitters Cardiovascular phenotype
  • p.Glu31del Multiple submitters congenital muscular dystrophy due to LMNA mutation
  • p.Glu31Lys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu358Lys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu361Lys Multiple submitters muscular dystrophy
  • p.Glu73Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu82Lys Multiple submitters dilated cardiomyopathy
  • p.Gly413fs Multiple submitters Cardiovascular phenotype
  • p.Gly608= Multiple submitters LMNA-related disorder
  • p.Leu106Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu204fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu320fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu512fs Multiple submitters Cardiovascular phenotype
  • p.Leu59fs Multiple submitters dilated cardiomyopathy 1A
  • p.Lys117fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys122Ter Multiple submitters Cardiovascular phenotype
  • p.Lys32del Multiple submitters LMNA-related disorder
  • p.Lys32Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Met1Lys Multiple submitters Cardiovascular phenotype
  • p.Ser395Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser426fs Multiple submitters Cardiovascular phenotype
  • p.Ser437fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Trp467Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Trp514Arg Multiple submitters Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Trp514Ter Multiple submitters Cardiovascular phenotype
  • p.Trp520Arg Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Trp520Ter Multiple submitters Cardiovascular phenotype
  • c.(?_1 Single submitter dilated cardiomyopathy
  • c.1158-1G>A Single submitter familial dilated cardiomyopathy
  • c.1380+2T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1381-2A>G Single submitter Cardiovascular phenotype
  • c.1488+1G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1489-1G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1489-1G>T Single submitter LMNA-related disorder
  • c.1608+1G>T Single submitter
  • c.1608+5G>C Single submitter Cardiovascular phenotype
  • c.356+2T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+2T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+2T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-1G>A Single submitter LMNA-related disorder
  • c.357-1G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-1G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-396_434del Single submitter Charcot-Marie-Tooth disease type 2
  • c.514-13T>A Single submitter Cardiovascular phenotype
  • c.514-1G>A Single submitter dilated cardiomyopathy 1A
  • c.758_810+70del Single submitter Charcot-Marie-Tooth disease type 2
  • c.810+1G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.810+1G>C Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • c.810+32_1323del Single submitter Charcot-Marie-Tooth disease type 2
  • c.936+134_1370del Single submitter Charcot-Marie-Tooth disease type 2
  • c.936+1G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.937-11C>G Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala14fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala151fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala175_Leu176insTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala179fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala244fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala287fs Single submitter
  • p.Ala314fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala375Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala43Glu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala516fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala80_Leu85del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg189Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg196fs Single submitter
  • p.Arg249fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg25fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg280_Asn281del Single submitter muscular dystrophy
  • p.Arg321fs Single submitter dilated cardiomyopathy 1A
  • p.Arg329_Glu330insTer Single submitter Cardiovascular phenotype
  • p.Arg386Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg386Thr Single submitter Cardiovascular phenotype
  • p.Arg41Cys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg435fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg439fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg455Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg50Pro Single submitter
  • p.Asn209fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn39Lys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn456del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn456Lys Single submitter
  • p.Asn466fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn466Lys Single submitter LMNA-related disorder
  • p.Asp192fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp230Ala Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp272fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp325fs Single submitter
  • p.Asp370_Met371del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp596fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asp93fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Cys522Ter Single submitter Cardiovascular phenotype
  • p.Gln131Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln15Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln168fs Single submitter Cardiovascular phenotype
  • p.Gln198Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln246fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln251fs Single submitter dilated cardiomyopathy 1A
  • p.Gln276Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln305Ter Single submitter Cardiovascular phenotype
  • p.Gln312Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln353fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln360Ter Single submitter
  • p.Gln410fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln472Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln493fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln517Ter Single submitter dilated cardiomyopathy 1A
  • p.Gln6fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu112Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu138Lys Single submitter
  • p.Glu145Ter Single submitter
  • p.Glu161Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu203del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu223fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu236Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu247_Arg249del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu257_Gln258delinsAspTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu262fs Single submitter
  • p.Glu279fs Single submitter
  • p.Glu31Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu330Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu33del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu33fs Single submitter Cardiovascular phenotype
  • p.Glu344fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu372fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu372Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu381fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu384fs Single submitter
  • p.Glu384Lys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu422Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu460Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu554fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu55Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu68Val Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu73fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu82Ter Single submitter Cardiovascular phenotype
  • p.Glu84fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu84Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly160fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly411fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly412fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly449Asp Single submitter Charcot-Marie-Tooth disease type 2
  • p.His252fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.His405fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.His506fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile373Met Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile63fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu140Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu141Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu188fs Single submitter Cardiovascular phenotype
  • p.Leu241fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu323fs Single submitter
  • p.Leu327fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu42Ser Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu454Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu526fs Single submitter Cardiovascular phenotype
  • p.Leu530fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu530His Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu92Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys144Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Lys201Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys219Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys265delinsAlaGlyArgGlyGlySerArgLeuTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys319Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys417fs Single submitter Cardiovascular phenotype
  • p.Lys418fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys470fs Single submitter Cardiovascular phenotype
  • p.Lys486Asn Single submitter familial partial lipodystrophy, Dunnigan type ⚠
  • p.Met1_Pro4del Single submitter LMNA-related disorder
  • p.Met1Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Met1Val Single submitter Cardiovascular phenotype
  • p.Met540Ile Single submitter mandibuloacral dysplasia with type A lipodystrophy ⚠
  • p.Met540Thr Single submitter Hutchinson-Gilford progeria syndrome ⚠
  • p.Pro4Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Pro509fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser17fs Single submitter
  • p.Ser22fs Single submitter
  • p.Ser303fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser406fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser572fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser5fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser603Ter Single submitter
  • p.Ser71fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser94Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr24fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr480delinsLysTrpArgTer Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr528fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr534fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr548fs Single submitter dilated cardiomyopathy 1A
  • p.Tyr211Ter Single submitter Cardiovascular phenotype
  • p.Tyr376Cys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr45Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr481Ter Single submitter LMNA-related disorder
  • p.Tyr626fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr81Asp Single submitter dilated cardiomyopathy 1A
  • p.Tyr81fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val191fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val227fs Single submitter Cardiovascular phenotype
  • p.Val544fs Single submitter
  • p.Val607= Single submitter LMNA-related disorder
  • p.Val69fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val70fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val95fs Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val95Ter Single submitter Charcot-Marie-Tooth disease type 2
  • c.1381-2A>C No assertion criteria Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • c.1968+1G>A No assertion criteria restrictive dermopathy 2
  • p.Ala529Thr No assertion criteria mandibuloacral dysplasia with type A lipodystrophy
  • p.Ala57Pro No assertion criteria dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  • p.Arg541Gly No assertion criteria dilated cardiomyopathy 1A
  • p.Arg60Gly No assertion criteria dilated cardiomyopathy 1A ⚠
  • p.Asp230Asn No assertion criteria familial partial lipodystrophy, Dunnigan type
  • p.Asp300Gly No assertion criteria Hutchinson-Gilford progeria syndrome, atypical ⚠
  • p.Gln517fs No assertion criteria Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Gln656= No assertion criteria Hutchinson-Gilford progeria syndrome, atypical
  • p.Glu145Lys No assertion criteria Hutchinson-Gilford progeria syndrome, atypical ⚠
  • p.Gly608Ser No assertion criteria Hutchinson-Gilford progeria syndrome ⚠
  • p.Leu140Arg No assertion criteria Hutchinson-Gilford progeria syndrome, childhood-onset ⚠
  • p.Leu380Ser No assertion criteria congenital muscular dystrophy due to LMNA mutation
  • p.Leu530Pro No assertion criteria Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Leu59Arg No assertion criteria dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  • p.Lys32Thr No assertion criteria congenital muscular dystrophy due to LMNA mutation
  • p.Lys542Asn No assertion criteria mandibuloacral dysplasia with type A lipodystrophy ⚠

Pathogenic/Likely pathogenic 90

  • c.1142_1157+1del Multiple submitters Cardiovascular phenotype
  • c.1157+1G>A Multiple submitters Cardiovascular phenotype
  • c.1157+1G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1608+2T>G Multiple submitters Cardiovascular phenotype
  • c.1609-1G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1609-3C>G Multiple submitters Charcot-Marie-Tooth disease
  • c.356+1G>C Multiple submitters dilated cardiomyopathy
  • c.357-2A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.640-10A>G Multiple submitters Cardiovascular phenotype
  • c.811-1G>A Multiple submitters Cardiovascular phenotype
  • c.811-2A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.937-2A>G Multiple submitters Cardiovascular phenotype
  • p.Ala504fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg166Pro Multiple submitters Cardiovascular phenotype
  • p.Arg190Gln Multiple submitters cardiomyopathy
  • p.Arg225Ter Multiple submitters autosomal dominant LMNA-related disorders
  • p.Arg249Gln Multiple submitters congenital muscular dystrophy
  • p.Arg249Gly Multiple submitters laminopathy
  • p.Arg249Trp Multiple submitters LMNA-related disorder
  • p.Arg25Gly Multiple submitters Cardiovascular phenotype
  • p.Arg275fs Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • p.Arg28Gln Multiple submitters Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Arg28Trp Multiple submitters Cardiovascular phenotype
  • p.Arg331fs Multiple submitters cardiomyopathy
  • p.Arg335Trp Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg349Leu Multiple submitters Cardiovascular phenotype
  • p.Arg349Trp Multiple submitters Cardiovascular phenotype
  • p.Arg377Cys Multiple submitters congenital muscular dystrophy due to LMNA mutation
  • p.Arg377Leu Multiple submitters Cardiovascular phenotype
  • p.Arg453Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg453Trp Multiple submitters LMNA-related disorder
  • p.Arg471His Multiple submitters LMNA-related disorder
  • p.Arg482Gly Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg482Trp Multiple submitters LMNA-related disorder
  • p.Arg541Cys Multiple submitters LMNA-related disorder
  • p.Arg541His Multiple submitters congenital muscular dystrophy ⚠
  • p.Arg541Pro Multiple submitters Bethlem myopathy 1A
  • p.Arg541Ser Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg62Cys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg62Gly Multiple submitters Cardiovascular phenotype
  • p.Arg62Ser Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg89Leu Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp300Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gln103Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln207Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln246Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln255fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln310Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln410Ter Multiple submitters hypertrophic cardiomyopathy 1
  • p.Gln432Ter Multiple submitters Cardiovascular phenotype
  • p.Glu161Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu202Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu203Gly Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu203Lys Multiple submitters Cardiovascular phenotype
  • p.Glu203Val Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu262Ter Multiple submitters Cardiovascular phenotype
  • p.Glu317Lys Multiple submitters Dilated and arrhythmogenic cardiomyopathy
  • p.Glu372Asp Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu383Lys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu448Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu53Gly Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu65Gly Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly232Glu Multiple submitters Emery-Dreifuss muscular dystrophy 2, autosomal dominant ⚠
  • p.Gly382= Multiple submitters Cardiovascular phenotype
  • p.Gly465Asp Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.His433_Ala434insTer Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile531fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu215Pro Multiple submitters Cardiovascular phenotype
  • p.Leu35Pro Multiple submitters muscular dystrophy
  • p.Leu421fs Multiple submitters dilated cardiomyopathy 1A
  • p.Leu479fs Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu530Phe Multiple submitters muscular dystrophy
  • p.Leu92Phe Multiple submitters Cardiovascular phenotype
  • p.Lys114Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys261del Multiple submitters Cardiovascular phenotype
  • p.Lys32Glu Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Met1Ile Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser143Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser295Ter Multiple submitters LMNA-related disorder
  • p.Thr10Ile Multiple submitters familial partial lipodystrophy, Dunnigan type
  • p.Thr150Pro Multiple submitters Inborn genetic diseases
  • p.Thr19fs Multiple submitters dilated cardiomyopathy
  • p.Thr528Arg Multiple submitters Cardiovascular phenotype
  • p.Thr528Lys Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr528Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Trp498Ter Multiple submitters Cardiovascular phenotype
  • p.Tyr259Ter Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Tyr267His Multiple submitters Cardiovascular phenotype
  • p.Val256= Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • p.Lys208del No assertion criteria Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Likely pathogenic 166

  • c.1489-2A>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1608+2T>C Multiple submitters Cardiovascular phenotype
  • c.513+1G>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.639+1G>A Multiple submitters cardiomyopathy
  • c.639+1G>T Multiple submitters Cardiovascular phenotype
  • c.937-1G>A Multiple submitters Cardiovascular phenotype
  • p.Arg25Cys Multiple submitters dilated cardiomyopathy 1A
  • p.Arg25His Multiple submitters familial dilated cardiomyopathy
  • p.Arg28Gly Multiple submitters LMNA-related disorder
  • p.Arg331Pro Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asn39Asp Multiple submitters congenital muscular dystrophy due to LMNA mutation
  • p.Asn39His Multiple submitters congenital muscular dystrophy due to LMNA mutation
  • p.Glu33Asp Multiple submitters
  • p.Ile373Phe Multiple submitters LMNA-related disorder
  • p.Leu197Pro Multiple submitters Inborn genetic diseases
  • p.Leu306Pro Multiple submitters dilated cardiomyopathy 1A
  • p.Leu52Val Multiple submitters Cardiovascular phenotype
  • p.Lys123del Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Lys219Thr Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr27Ile Multiple submitters congenital muscular dystrophy due to LMNA mutation
  • p.Tyr376His Multiple submitters limb-girdle muscular dystrophy
  • p.Val549fs Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • c.1157+23_1158-45del Single submitter LMNA-associated condition
  • c.1158-1G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-2A>G Single submitter
  • c.1381-1G>A Single submitter Cardiovascular phenotype
  • c.1489-1G>A Single submitter Cardiovascular phenotype
  • c.1608+2T>A Single submitter dilated cardiomyopathy 1A
  • c.1608+5G>A Single submitter Cardiovascular phenotype
  • c.1609-12T>G Single submitter dilated cardiomyopathy
  • c.1609-2A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-3_1609-2del Single submitter
  • c.1699-2A>G Single submitter familial partial lipodystrophy, Dunnigan type
  • c.1969-2A>T Single submitter dilated cardiomyopathy 1A
  • c.500_513+1del Single submitter
  • c.513+1G>T Single submitter
  • c.513+2T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.514-1del Single submitter
  • c.514-2A>G Single submitter Cardiovascular phenotype
  • c.640-2A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-67_718del Single submitter Charcot-Marie-Tooth disease type 2
  • c.811-1G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.937-1G>C Single submitter LMNA-related disorder
  • c.(?_-1 Single submitter Cardiovascular phenotype
  • p.Ala132Pro Single submitter LMNA-related disorder
  • p.Ala242Glu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala274Asp Single submitter LMNA-related disorder
  • p.Ala278Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala288Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala328fs Single submitter
  • p.Ala529Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala617fs Single submitter cardiomyopathy
  • p.Ala88Gly Single submitter LMNA-related disorder
  • p.Arg110fs Single submitter
  • p.Arg133Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg133Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg166Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg221_His222insAlaAlaTer Single submitter dilated cardiomyopathy 1A
  • p.Arg225fs Single submitter dilated cardiomyopathy 1A
  • p.Arg225Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg225Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg249Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg25Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg331Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg331Leu Single submitter LMNA-related disorder
  • p.Arg335Pro Single submitter Charcot-Marie-Tooth disease type 2B1
  • p.Arg377Ser Single submitter dilated cardiomyopathy 1A
  • p.Arg388Pro Single submitter muscular dystrophy
  • p.Arg41Pro Single submitter
  • p.Arg455fs Single submitter cardiomyopathy
  • p.Arg482Pro Single submitter familial partial lipodystrophy, Dunnigan type
  • p.Arg48Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg48His Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg48Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg527fs Single submitter LMNA-related disorder
  • p.Arg541Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg62Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg62Pro Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Arg72Pro Single submitter congenital muscular dystrophy due to LMNA mutation
  • p.Arg89Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg99Pro Single submitter familial dilated cardiomyopathy
  • p.Asn39Ile Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn456Thr Single submitter Charcot-Marie-Tooth disease type 2
  • p.Asn466Asp Single submitter ⚠
  • p.Asn524fs Single submitter Cardiovascular phenotype
  • p.Asn56Lys Single submitter familial partial lipodystrophy, Dunnigan type
  • p.Asp192Val Single submitter dilated cardiomyopathy 1A
  • p.Asp243Tyr Single submitter dilated cardiomyopathy 1A
  • p.Asp357His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp370Glu Single submitter laminopathy ⚠
  • p.Asp446Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp446Val Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln198Pro Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln276Ter Single submitter LMNA-related disorder
  • p.Gln462Pro Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Gln656His Single submitter Hutchinson-Gilford progeria syndrome ⚠
  • p.Glu111Gln Single submitter dilated cardiomyopathy 1A ⚠
  • p.Glu111Lys Single submitter Hutchinson-Gilford progeria syndrome
  • p.Glu159fs Single submitter dilated cardiomyopathy
  • p.Glu262Lys Single submitter Hutchinson-Gilford progeria syndrome
  • p.Glu290Val Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu291Val Single submitter dilated cardiomyopathy 1A
  • p.Glu31Gln Single submitter dilated cardiomyopathy 1A
  • p.Glu33Ter Single submitter
  • p.Glu37fs Single submitter LMNA-related disorder
  • p.Glu383Asp Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu385del Single submitter muscular dystrophy
  • p.Glu460Asp Single submitter arrhythmogenic right ventricular cardiomyopathy
  • p.Glu536fs Single submitter dilated cardiomyopathy 1A
  • p.Glu554_Asp560del Single submitter LMNA-related disorder
  • p.Glu55Asp Single submitter LMNA-related disorder ⚠
  • p.Glu55fs Single submitter
  • p.Glu55Gly Single submitter Hutchinson-Gilford progeria syndrome
  • p.Glu65Val Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu82Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu98Ter Single submitter LMNA-related disorder
  • p.Gly286del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly521Val Single submitter
  • p.His506Asp Single submitter LMNA-related disorder
  • p.Ile26fs Single submitter
  • p.Ile373Ser Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu148Pro Single submitter
  • p.Leu197_Gln198delinsThrTer Single submitter dilated cardiomyopathy
  • p.Leu204Arg Single submitter dilated cardiomyopathy 1A
  • p.Leu245Gln Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu271Gln Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Leu302fs Single submitter dilated cardiomyopathy 1A
  • p.Leu362Pro Single submitter dilated cardiomyopathy 1A
  • p.Leu380Met Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu38Val Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu59Val Single submitter Hutchinson-Gilford progeria syndrome
  • p.Leu85His Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu85Phe Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys155_Gly160delinsSer Single submitter muscular dystrophy
  • p.Lys171= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Lys270Asn Single submitter Abnormality of the musculature
  • p.Lys378Gln Single submitter dilated cardiomyopathy 1A
  • p.Met1fs Single submitter
  • p.Met345fs Single submitter cardiomyopathy
  • p.Met371Leu Single submitter congenital muscular dystrophy due to LMNA mutation ⚠
  • p.Met464Arg Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Phe206Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser392fs Single submitter dilated cardiomyopathy 1D
  • p.Ser525fs Single submitter dilated cardiomyopathy 1A
  • p.Thr10Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr10Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr157fs Single submitter congenital muscular dystrophy due to LMNA mutation
  • p.Thr436fs Single submitter LMNA-related disorder
  • p.Thr510fs Single submitter mandibuloacral dysplasia
  • p.Thr91_Leu92insTer Single submitter dilated cardiomyopathy 1A
  • p.Trp467Arg Single submitter
  • p.Trp498Cys Single submitter familial dilated cardiomyopathy
  • p.Trp520Cys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Tyr259Cys Single submitter Abnormality of the musculature
  • p.Tyr259His Single submitter dilated cardiomyopathy 1A
  • p.Tyr359fs Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Val109fs Single submitter sick sinus syndrome
  • c.1158-9_1173del No assertion criteria Proximal muscle weakness
  • p.Arg89Cys No assertion criteria heart-hand syndrome, Slovenian type
  • p.Asp185fs No assertion criteria dilated cardiomyopathy
  • p.Gln103Arg No assertion criteria
  • p.Glu262Val No assertion criteria Early onset multivalvular disease
  • p.Glu358Gly No assertion criteria arrhythmogenic right ventricular dysplasia 9
  • p.His433Tyr No assertion criteria mandibuloacral dysplasia ⚠
  • p.Met371_Ala375del No assertion criteria dilated cardiomyopathy
  • p.Val442Glu No assertion criteria LMNA-related disorder

Conflicting classifications of pathogenicity 263

  • c.1157+1G>C Single submitter Cardiovascular phenotype ⚠
  • c.1157+6C>G Single submitter Cardiovascular phenotype
  • c.1158-3C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1380+5dup Single submitter dilated cardiomyopathy
  • c.1381-6C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1488+14C>T Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • c.1488+1G>A Single submitter Cardiovascular phenotype ⚠
  • c.1488+5G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1488+8G>A Single submitter Charcot-Marie-Tooth disease
  • c.1608+10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-8C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1698+1G>A Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • c.1698+1G>C Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • c.1699-7T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1699-8C>G Single submitter Cardiovascular phenotype
  • c.1968+37C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1968+3G>A Single submitter cardiomyopathy
  • c.1968+5G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1969-4T>C Single submitter dilated cardiomyopathy
  • c.356+5G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-3720C>T Single submitter
  • c.357-3723G>A Single submitter Cardiovascular phenotype
  • c.357-3748C>T Single submitter
  • c.513+12C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+1G>A Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • c.513+2T>G Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • c.514-11C>T Single submitter cardiomyopathy
  • c.639+9T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-11A>C Single submitter Cardiovascular phenotype
  • c.640-52C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.810+17G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.936+2T>C Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • c.937-22_937-10del Single submitter congenital muscular dystrophy due to LMNA mutation
  • c.937-3C>T Single submitter cardiomyopathy
  • c.937-5T>C Single submitter cardiomyopathy
  • c.937-6C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.937-7C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.937-7C>G Single submitter Charcot-Marie-Tooth disease
  • c.937-8C>A Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • c.937-8C>G Single submitter dilated cardiomyopathy
  • c.937-9C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.-11A>G Single submitter dilated cardiomyopathy
  • c.-223C>T Single submitter Emery-Dreifuss muscular dystrophy
  • c.*722T>C Single submitter Cardiovascular phenotype
  • p.Ala146Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala147Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala242= Single submitter Cardiovascular phenotype
  • p.Ala242Val Single submitter Cardiovascular phenotype ⚠
  • p.Ala244= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala278Thr Single submitter cardiomyopathy ⚠
  • p.Ala288Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala318= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ala318Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ala339= Single submitter Cardiovascular phenotype
  • p.Ala375Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala43Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ala617= Single submitter Cardiovascular phenotype
  • p.Arg110His Single submitter Charcot-Marie-Tooth disease type 2B1 ⚠
  • p.Arg119= Single submitter Cardiovascular phenotype
  • p.Arg119Pro Single submitter Cardiovascular phenotype ⚠
  • p.Arg133Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg133Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg166= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg166Gln Single submitter Hutchinson-Gilford progeria syndrome ⚠
  • p.Arg166Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg216Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg216His Single submitter restrictive dermopathy 2 ⚠
  • p.Arg220Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg220His Single submitter Cardiovascular phenotype ⚠
  • p.Arg225Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg25= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg25Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg298Cys Single submitter LMNA-related disorder ⚠
  • p.Arg298His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg298Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg331Gln Single submitter LMNA-related disorder ⚠
  • p.Arg331Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg335Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg336Gln Single submitter familial partial lipodystrophy, Dunnigan type ⚠
  • p.Arg336Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg349Gln Single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ⚠
  • p.Arg351= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg388His Single submitter Cardiovascular phenotype ⚠
  • p.Arg397His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg399Cys Single submitter restrictive dermopathy 2 ⚠
  • p.Arg401Cys Single submitter familial partial lipodystrophy, Dunnigan type ⚠
  • p.Arg419Cys Single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ⚠
  • p.Arg41Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg41Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg435Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg435His Single submitter LMNA-related disorder
  • p.Arg439Cys Single submitter LMNA-related disorder ⚠
  • p.Arg439His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg453Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg471Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg471Gly Single submitter Cardiovascular phenotype ⚠
  • p.Arg482Gln Single submitter LMNA-related disorder ⚠
  • p.Arg482Leu Single submitter LMNA-related disorder ⚠
  • p.Arg50Cys Single submitter congenital muscular dystrophy due to LMNA mutation ⚠
  • p.Arg50Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg50Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg527Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg527His Single submitter Emery-Dreifuss muscular dystrophy 3, autosomal recessive ⚠
  • p.Arg527Leu Single submitter LMNA-related disorder ⚠
  • p.Arg545Cys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg545His Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules ⚠
  • p.Arg571Ser Single submitter Cardiovascular phenotype
  • p.Arg572Cys Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg572Gly Single submitter Charcot-Marie-Tooth disease type 2
  • p.Arg582Cys Single submitter congenital muscular dystrophy due to LMNA mutation ⚠
  • p.Arg582His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg582Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg584His Single submitter familial partial lipodystrophy, Dunnigan type ⚠
  • p.Arg584Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg60Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg60His Single submitter familial partial lipodystrophy, Dunnigan type
  • p.Arg60Pro Single submitter ⚠
  • p.Arg60Ser Single submitter Cardiovascular phenotype ⚠
  • p.Arg644Cys Single submitter restrictive dermopathy 2
  • p.Arg644His Single submitter mandibuloacral dysplasia with type A lipodystrophy ⚠
  • p.Arg72Cys Single submitter cardiomyopathy ⚠
  • p.Arg72His Single submitter Cardiovascular phenotype ⚠
  • p.Arg72Leu Single submitter Cardiovascular phenotype ⚠
  • p.Arg89His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Arg89Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asn456Ser Single submitter dilated cardiomyopathy ⚠
  • p.Asn456Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asn459Ser Single submitter Charcot-Marie-Tooth disease type 2B1 ⚠
  • p.Asn640Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asn650Ser Single submitter cardiomyopathy ⚠
  • p.Asn660Asp Single submitter Cardiovascular phenotype ⚠
  • p.Asp136Glu Single submitter
  • p.Asp357Asn Single submitter Cardiovascular phenotype
  • p.Asp357Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp364Asn Single submitter Cardiovascular phenotype ⚠
  • p.Asp446Glu Single submitter cardiomyopathy ⚠
  • p.Asp446Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp47Asn Single submitter congenital muscular dystrophy due to LMNA mutation ⚠
  • p.Asp47His Single submitter laminopathy ⚠
  • p.Asp47Tyr Single submitter LMNA-related disorder ⚠
  • p.Asp552= Single submitter Cardiovascular phenotype
  • p.Asp553= Single submitter dilated cardiomyopathy
  • p.Asp553Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Asp596_Ala600del Single submitter Charcot-Marie-Tooth disease type 2B1
  • p.Asp596Asn Single submitter cardiomyopathy ⚠
  • p.Cys522= Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • p.Cys588= Single submitter Cardiovascular phenotype
  • p.Cys591= Single submitter Cardiovascular phenotype
  • p.Gln198Arg Single submitter dilated cardiomyopathy 1A ⚠
  • p.Gln312= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gln353Arg Single submitter Cardiovascular phenotype ⚠
  • p.Gln410= Single submitter dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
  • p.Gln493Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gln517= Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • p.Glu105Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu112del Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu115Val Single submitter familial dilated cardiomyopathy ⚠
  • p.Glu124Lys Single submitter cardiomyopathy ⚠
  • p.Glu161= Single submitter Cardiovascular phenotype
  • p.Glu264del Single submitter muscular dystrophy
  • p.Glu290= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu290Lys Single submitter myocarditis ⚠
  • p.Glu324Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu33Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu347Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu347Lys Single submitter Cardiovascular phenotype ⚠
  • p.Glu361Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu37= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu372Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu372Val Single submitter Cardiovascular phenotype ⚠
  • p.Glu383= Single submitter Emery-Dreifuss muscular dystrophy
  • p.Glu536= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Glu65Lys Single submitter dilated cardiomyopathy ⚠
  • p.Glu82Gln Single submitter Charcot-Marie-Tooth disease type 2B1 ⚠
  • p.Glu84Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Glu84Lys Single submitter Charcot-Marie-Tooth disease type 2B1 ⚠
  • p.Glu98= Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • p.Gly160= Single submitter Cardiovascular phenotype
  • p.Gly232Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Gly412= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly413Ser Single submitter dilated cardiomyopathy ⚠
  • p.Gly58= Single submitter Cardiovascular phenotype
  • p.Gly602Ser Single submitter Cardiovascular phenotype ⚠
  • p.Gly609= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Gly635Ser Single submitter cardiomyopathy ⚠
  • p.Gly638Arg Single submitter Cardiovascular phenotype
  • p.His289= Single submitter Charcot-Marie-Tooth disease type 2
  • p.His374= Single submitter cardiomyopathy
  • p.His405= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ile210Asn Single submitter Cardiovascular phenotype ⚠
  • p.Ile210Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ile229Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ile26= Single submitter Cardiovascular phenotype
  • p.Ile299= Single submitter Cardiovascular phenotype
  • p.Ile299Val Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ile46Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ile63Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu102Pro Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant ⚠
  • p.Leu116= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu127= Single submitter cardiomyopathy
  • p.Leu137= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu137Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu152Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu197= Single submitter cardiomyopathy
  • p.Leu204Val Single submitter Cardiovascular phenotype ⚠
  • p.Leu215= Single submitter Cardiovascular phenotype
  • p.Leu248Pro Single submitter Cardiovascular phenotype ⚠
  • p.Leu263= Single submitter Cardiovascular phenotype
  • p.Leu284Pro Single submitter congenital muscular dystrophy due to LMNA mutation ⚠
  • p.Leu313Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu369Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu387Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu38Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Leu421Pro Single submitter cardiomyopathy ⚠
  • p.Leu454= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Leu489Arg Single submitter LMNA-related disorder ⚠
  • p.Leu92Val Single submitter cardiomyopathy ⚠
  • p.Lys117Arg Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant ⚠
  • p.Lys260Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Lys270= Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Lys270Gln Single submitter Charcot-Marie-Tooth disease type 2B1 ⚠
  • p.Lys366= Single submitter Cardiovascular phenotype
  • p.Lys97Thr Single submitter cardiomyopathy ⚠
  • p.Met464Lys Single submitter Hutchinson-Gilford progeria syndrome ⚠
  • p.Met464Val Single submitter dilated cardiomyopathy ⚠
  • p.Phe206Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Phe237Ser Single submitter Cardiovascular phenotype ⚠
  • p.Phe637Leu Single submitter Charcot-Marie-Tooth disease type 2
  • p.Pro20Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Pro4Gln Single submitter Cardiovascular phenotype ⚠
  • p.Ser22Leu Single submitter cardiomyopathy ⚠
  • p.Ser239Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Ser326Thr Single submitter familial partial lipodystrophy, Dunnigan type ⚠
  • p.Ser395= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Ser437= Single submitter Cardiovascular phenotype
  • p.Ser533= Single submitter cardiomyopathy
  • p.Ser573Leu Single submitter restrictive dermopathy 2 ⚠
  • p.Ser583Leu Single submitter familial partial lipodystrophy, Dunnigan type ⚠
  • p.Ser75Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr150Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Thr157= Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • p.Thr199Ala Single submitter dilated cardiomyopathy 1A ⚠
  • p.Thr424Ala Single submitter cardiomyopathy ⚠
  • p.Thr496= Single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • p.Thr496Met Single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules ⚠
  • p.Thr528= Single submitter Charcot-Marie-Tooth disease type 2
  • p.Thr528Met Single submitter Cardiovascular phenotype ⚠
  • p.Thr621Met Single submitter cardiomyopathy ⚠
  • p.Thr64= Single submitter Cardiovascular phenotype
  • p.Thr655fs Single submitter Cardiovascular phenotype ⚠
  • p.Thr91Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Tyr211Cys Single submitter dilated cardiomyopathy 1A ⚠
  • p.Tyr45Cys Single submitter LMNA-related disorder ⚠
  • p.Tyr45His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Tyr45Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Tyr81Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Tyr81His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val415Ile Single submitter Cardiovascular phenotype ⚠
  • p.Val440Met Single submitter Hutchinson-Gilford progeria syndrome ⚠
  • p.Val442Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val44Phe Single submitter congenital muscular dystrophy ⚠
  • p.Val549Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
  • p.Val607fs Single submitter Charcot-Marie-Tooth disease type 2 ⚠

Benign 48

Benign/Likely benign 20

  • c.1157+16G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.1158-43A>G Multiple submitters
  • c.1158-44C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1381-13A>G Multiple submitters Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • c.1489-16C>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1968+18dup Multiple submitters Charcot-Marie-Tooth disease
  • c.357-19T>C Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.357-3717A>G Multiple submitters
  • c.357-4426G>A Multiple submitters
  • c.810+12C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.811-13T>A Multiple submitters Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • c.-88G>T Multiple submitters Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • c.*211del Multiple submitters
  • c.*747G>A Multiple submitters
  • p.Ala287= Multiple submitters Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • p.Asp446= Multiple submitters Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • p.His433= Multiple submitters cardiomyopathy
  • p.Lys316= Multiple submitters cardiomyopathy
  • p.Phe637= Multiple submitters Cardiovascular phenotype
  • p.Ser17= Multiple submitters Charcot-Marie-Tooth disease type 2B1

Likely benign 508

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1157+15C>T Multiple submitters Cardiovascular phenotype
  • c.1157+18C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1157+19G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.1157+46C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1158-12C>G Multiple submitters Cardiovascular phenotype
  • c.1158-14C>T Multiple submitters cardiomyopathy
  • c.1158-5C>G Multiple submitters cardiomyopathy
  • c.1158-6C>T Multiple submitters dilated cardiomyopathy
  • c.1158-7T>C Multiple submitters dilated cardiomyopathy
  • c.1380+14C>T Multiple submitters Cardiovascular phenotype
  • c.1380+18G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1381-4G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1381-6C>G Multiple submitters Emery-Dreifuss muscular dystrophy 2, autosomal dominant
  • c.1488+15G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1488+7G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1489-8C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1489-9C>T Multiple submitters cardiomyopathy
  • c.1609-12T>C Multiple submitters dilated cardiomyopathy
  • c.1609-4C>T Multiple submitters dilated cardiomyopathy
  • c.1609-9C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.1698+25C>T Multiple submitters cardiomyopathy
  • c.1699-10C>A Multiple submitters Cardiovascular phenotype
  • c.1699-133C>T Multiple submitters
  • c.1699-4C>T Multiple submitters cardiomyopathy
  • c.1699-9_1699-8del Multiple submitters cardiomyopathy
  • c.1699-9C>T Multiple submitters Emery-Dreifuss muscular dystrophy 3, autosomal recessive
  • c.356+18G>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.357-13C>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.357-20C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.357-4385G>A Multiple submitters
  • c.357-6C>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.357-8T>C Multiple submitters Cardiovascular phenotype
  • c.513+11C>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.514-7dup Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.640-7C>G Multiple submitters dilated cardiomyopathy
  • c.640-8C>G Multiple submitters Cardiovascular phenotype
  • c.810+13G>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.811-12C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.811-18C>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.811-4C>G Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.936+12C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.936+19C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.936+7C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.937-11C>A Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.937-15C>T Multiple submitters cardiomyopathy
  • c.937-6C>T Multiple submitters cardiomyopathy
  • c.937-7C>T Multiple submitters Charcot-Marie-Tooth disease type 2
  • c.937-8C>T Multiple submitters cardiomyopathy
  • c.937-9C>T Multiple submitters cardiomyopathy
  • c.*130T>G Multiple submitters
  • c.*484AG[9] Multiple submitters
  • c.*639G>A Multiple submitters
  • p.Ala118= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala14= Multiple submitters Cardiovascular phenotype
  • p.Ala193= Multiple submitters Cardiovascular phenotype
  • p.Ala250= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala269= Multiple submitters Cardiovascular phenotype
  • p.Ala274= Multiple submitters dilated cardiomyopathy
  • p.Ala346= Multiple submitters cardiomyopathy
  • p.Ala368= Multiple submitters dilated cardiomyopathy
  • p.Ala434= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala441= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ala577= Multiple submitters congenital muscular dystrophy due to LMNA mutation
  • p.Ala595= Multiple submitters Cardiovascular phenotype
  • p.Ala598= Multiple submitters cardiomyopathy
  • p.Ala80= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg189= Multiple submitters dilated cardiomyopathy
  • p.Arg220= Multiple submitters Cardiovascular phenotype
  • p.Arg296= Multiple submitters Cardiovascular phenotype
  • p.Arg343= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg399= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg435= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg439= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg453= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Arg582= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asn281= Multiple submitters Cardiovascular phenotype
  • p.Asn640= Multiple submitters Cardiovascular phenotype
  • p.Asp205= Multiple submitters dilated cardiomyopathy
  • p.Asp243= Multiple submitters Cardiovascular phenotype
  • p.Asp357= Multiple submitters cardiomyopathy
  • p.Asp364= Multiple submitters Charcot-Marie-Tooth disease
  • p.Asp560= Multiple submitters Cardiovascular phenotype
  • p.Asp575= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Asp596= Multiple submitters dilated cardiomyopathy
  • p.Asp87= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln168= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln255= Multiple submitters cardiomyopathy
  • p.Gln258= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln310= Multiple submitters cardiomyopathy
  • p.Gln354= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gln606= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu124= Multiple submitters cardiomyopathy
  • p.Glu145= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu159= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Glu202= Multiple submitters Cardiovascular phenotype
  • p.Glu257= Multiple submitters Cardiovascular phenotype
  • p.Glu279= Multiple submitters Cardiovascular phenotype
  • p.Glu291= Multiple submitters Cardiovascular phenotype
  • p.Glu31= Multiple submitters Cardiovascular phenotype
  • p.Glu330= Multiple submitters Cardiovascular phenotype
  • p.Glu344= Multiple submitters cardiomyopathy
  • p.Glu361= Multiple submitters cardiomyopathy
  • p.Glu385= Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • p.Glu554= Multiple submitters dilated cardiomyopathy
  • p.Gly125= Multiple submitters cardiomyopathy
  • p.Gly13= Multiple submitters dilated cardiomyopathy
  • p.Gly177= Multiple submitters cardiomyopathy
  • p.Gly400= Multiple submitters Cardiovascular phenotype
  • p.Gly413= Multiple submitters dilated cardiomyopathy
  • p.Gly535= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly567= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Gly574= Multiple submitters cardiomyopathy
  • p.Gly604= Multiple submitters cardiomyopathy
  • p.Gly630= Multiple submitters cardiomyopathy
  • p.His564= Multiple submitters Cardiovascular phenotype
  • p.Ile373= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ile46= Multiple submitters Cardiovascular phenotype
  • p.Ile531= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu162= Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu176= Multiple submitters cardiomyopathy
  • p.Leu188= Multiple submitters dilated cardiomyopathy
  • p.Leu284= Multiple submitters Cardiovascular phenotype
  • p.Leu309= Multiple submitters dilated cardiomyopathy
  • p.Leu35= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu380= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu389= Multiple submitters cardiomyopathy
  • p.Leu421= Multiple submitters cardiomyopathy
  • p.Leu512= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu526= Multiple submitters Cardiovascular phenotype
  • p.Leu530= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Leu647= Multiple submitters cardiomyopathy
  • p.Lys122= Multiple submitters Cardiovascular phenotype
  • p.Lys123= Multiple submitters Emery-Dreifuss muscular dystrophy 3, autosomal recessive
  • p.Lys180= Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • p.Lys208= Multiple submitters Cardiovascular phenotype
  • p.Lys219= Multiple submitters Cardiovascular phenotype
  • p.Lys32= Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • p.Phe113= Multiple submitters Cardiovascular phenotype
  • p.Phe237= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro391= Multiple submitters Cardiovascular phenotype
  • p.Pro393= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro508= Multiple submitters dilated cardiomyopathy
  • p.Pro576= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Pro594= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser22= Multiple submitters Cardiovascular phenotype
  • p.Ser295= Multiple submitters cardiomyopathy
  • p.Ser392= Multiple submitters Cardiovascular phenotype
  • p.Ser406= Multiple submitters Cardiovascular phenotype
  • p.Ser414= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser5= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser51= Multiple submitters Charcot-Marie-Tooth disease type 2B1
  • p.Ser573= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser601= Multiple submitters Cardiovascular phenotype
  • p.Ser603= Multiple submitters Cardiovascular phenotype
  • p.Ser618= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser619= Multiple submitters cardiomyopathy
  • p.Ser636= Multiple submitters Cardiovascular phenotype
  • p.Ser657= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser66= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Ser94= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr424= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr534= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr54= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Thr585= Multiple submitters Cardiovascular phenotype
  • p.Thr590= Multiple submitters Cardiovascular phenotype
  • p.Tyr259= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Tyr359= Multiple submitters cardiomyopathy
  • p.Tyr579= Multiple submitters cardiomyopathy
  • p.Val191= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val227= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val44= Multiple submitters Cardiovascular phenotype
  • p.Val452= Multiple submitters cardiomyopathy
  • p.Val495= Multiple submitters Hutchinson-Gilford progeria syndrome
  • p.Val513= Multiple submitters Cardiovascular phenotype
  • p.Val538= Multiple submitters Charcot-Marie-Tooth disease type 2
  • p.Val69= Multiple submitters cardiomyopathy
  • c.1157+12A>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+13G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+16G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+22G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+30_1157+34del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+30G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+36G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+38C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+39C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+40T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+45C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+7T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1157+8G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-10C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-16G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-16G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-17G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-19T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-46G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-4C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1158-8C>T Single submitter dilated cardiomyopathy
  • c.1380+13T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1380+14C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1380+14del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1380+17G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1380+37C>T Single submitter
  • c.1380+8C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1380+9C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1381-14T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1381-15C>T Single submitter dilated cardiomyopathy
  • c.1381-17C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1381-5G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1488+12G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1488+14C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1488+16C>T Single submitter
  • c.1488+17T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1488+33G>T Single submitter
  • c.1489-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1489-16del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1489-17C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1489-17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1489-4C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1608+11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1608+14G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1608+15del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1608+16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1608+17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1608+26T>G Single submitter
  • c.1608+33C>T Single submitter
  • c.1608+34G>A Single submitter
  • c.1609-16T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-17T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-19G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-29C>T Single submitter
  • c.1609-6C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-7C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1609-9C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1698+25C>G Single submitter
  • c.1699-15T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1699-17C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.1699-18C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1699-4C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.1699-8C>T Single submitter cardiomyopathy
  • c.1968+12_1968+13del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1968+12C>G Single submitter
  • c.1968+19G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1968+62G>T Single submitter
  • c.1968+80G>T Single submitter
  • c.1969-11_1969-8dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.1969-11T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1969-14G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.1969-14G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.1969-18_1969-16del Single submitter Charcot-Marie-Tooth disease type 2
  • c.1969-8T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+10C>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+12C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+15G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+17G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.356+8C>T Single submitter
  • c.356+9G>A Single submitter Cardiovascular phenotype
  • c.357-15C>T Single submitter cardiomyopathy
  • c.357-18C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-20C>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.357-3698A>G Single submitter
  • c.357-3710G>C Single submitter
  • c.357-3719G>A Single submitter
  • c.357-3788C>T Single submitter
  • c.357-3818T>G Single submitter
  • c.357-3876C>T Single submitter
  • c.357-714A>G Single submitter
  • c.357-8_357-7del Single submitter cardiomyopathy
  • c.357-9C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+11C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+15C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+18G>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+19G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+35A>G Single submitter
  • c.513+36C>T Single submitter
  • c.513+45T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+6_513+20dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+62A>C Single submitter
  • c.513+8C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.513+8del Single submitter cardiomyopathy
  • c.514-12G>T Single submitter cardiomyopathy
  • c.514-5C>T Single submitter dilated cardiomyopathy
  • c.514-6T>G Single submitter Charcot-Marie-Tooth disease type 2
  • c.639+10G>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.639+11T>C Single submitter Charcot-Marie-Tooth disease type 2
  • c.639+12G>A Single submitter
  • c.639+12G>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.639+13del Single submitter Charcot-Marie-Tooth disease type 2
  • c.639+18C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.639+19A>C Single submitter
  • c.640-11_640-7dup Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-11A>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-15del Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-16C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-20C>T Single submitter Charcot-Marie-Tooth disease type 2
  • c.640-3C>T Single submitter cardiomyopathy
  • c.640-7del Single submitter dilated cardiomyopathy
  • c.810+15T>A Single submitter Charcot-Marie-Tooth disease type 2
  • c.810+15T>C Single submitter Charcot-Marie-Tooth disease type 2

Uncertain significance 887

Showing the top 300 by review status; the full set is in the sitemap.