MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7090
Name:Lipodystrophy, Familial Partial
Definition:Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
Alternative IDs:DO:DOID:0050440|OMIM:151660|OMIM:604367|OMIM:613877|OMIM:615238|OMIM:615980
ParentIDs:MESH:D008060
TreeNumbers:C17.800.849.391.700 |C18.452.584.625.700 |C18.452.880.391.700
Synonyms:Dunnigan Syndrome |Familial Partial Lipodystrophies |Familial Partial Lipodystrophy |Familial Partial Lipodystrophy, Kobberling Type |Familial Partial Lipodystrophy, Type 1 |Familial Partial Lipodystrophy, Type 2 |Familial Partial Lipodystrophy, Type 3 |FPL2 |FP
Slim Mappings:Metabolic disease|Skin disease
Reference: MedGen: D052496
MeSH: D052496
OMIM: 151660;
MSeqDR LSDB:  
Genes: CIDEC; LIPE; LMNA; PLIN1; PPARG; PPP1R3A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000956Acanthosis nigricans
3 HP:0001735Acute pancreatitisHP:0040282
4 HP:0008887Adipose tissue loss
5 HP:0002621Atherosclerosis
6 HP:0003233Decreased HDL cholesterol concentration
7 HP:0012645Enlarged peripheral nerve
8 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
9 HP:0002240Hepatomegaly
10 HP:0001007Hirsutism
11 HP:0003074Hyperglycemia
12 HP:0000842Hyperinsulinemia
13 HP:0000822Hypertension
14 HP:0002155Hypertriglyceridemia
15 HP:0000468Increased adipose tissue around the neck
16 HP:0000287Increased facial adipose tissue
17 HP:0008993Increased intraabdominal fat
18 HP:0008985Increased intramuscular fat
19 HP:0000831Insulin-resistant diabetes mellitus
20 HP:0008739Labial pseudohypertrophy
21 HP:0009125Lipodystrophy
22 HP:0003635Loss of subcutaneous adipose tissue in limbs
23 HP:0009002Loss of truncal subcutaneous adipose tissue
24 HP:0003326Myalgia
25 HP:0000147Polycystic ovaries
26 HP:0001015Prominent superficial veins
27 HP:0003758Reduced subcutaneous adipose tissue
28 HP:0000311Round face
29 HP:0003712Skeletal muscle hypertrophy
30 HP:0000991Xanthomatosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005572.3(LMNA):c.-226C>T4000LMNAUncertain significance886045354RCV000261321|RCV000265425|RCV000274059|RCV000301121|RCV000313835|RCV000316510|RCV000344641|RCV000355952|RCV000368648|RCV000402614|RCV001096027; NMONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973|1156084484156084484NC_000001.10:g.156084484C>TClinGen:CA10607970C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)4000LMNAPathogenic/Likely pathogenic57077886RCV000015599|RCV000057387|RCV000622546|RCV000502816|RCV000755005; NMONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|Human Phenotype Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C002378711560847381560847381:g.156084738C>TClinGen:CA017867,UniProtKB:P02545#VAR_039745,OMIM:150330.0029C1449563 115200 Dilated cardiomyopathy 1A;
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)4000LMNAPathogenic28928900RCV000015567|RCV000015566|RCV000057359; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN51720211560848871560848871:g.156084887C>GClinGen:CA017722,UniProtKB:P02545#VAR_034706,OMIM:150330.0005C1449563 115200 Dilated cardiomyopathy 1A;
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)4000LMNAPathogenic56793579RCV000057365|RCV000503031|RCV001051802; NMedGen:C3661900|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:6474611560848931560848931:g.156084893C>GClinGen:CA017741,UniProtKB:P02545#VAR_039755C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.356+12C>A4000LMNAUncertain significance1649747809RCV001099884|RCV001099886|RCV001099887|RCV001099888|RCV001099883|RCV001099885|RCV001101874|RCV001101875|RCV001101876|RCV001101877; NMONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856|MedGen:CN239184|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0016830,MedGen:C041018911560850771560850771:g.156085077C>A-
NM_170707.4(LMNA):c.357-3669G>A4000LMNAUncertain significance-1RCV003448560; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:23481156096739156096739-
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)4000LMNAPathogenic60864230RCV000015577|RCV000015578|RCV000057399|RCV001387326; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:C2750285|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:6474611561004491561004491:g.156100449G>TClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027C0007959 Charcot-Marie-Tooth disease;
NM_170707.4(LMNA):c.514-11C>T4000LMNAConflicting interpretations of pathogenicity886045365RCV000259634|RCV000271579|RCV000277232|RCV000312526|RCV000319234|RCV000338954|RCV000367228|RCV000372986|RCV000366122|RCV000373949|RCV000828218|RCV001096563|RCV002061154; NMONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MON1156104183156104183NC_000001.10:g.156104183C>TClinGen:CA10608308C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)4000LMNAConflicting interpretations of pathogenicity727505357RCV000156919|RCV000538272|RCV001525549|RCV003152686; NMedGen:CN169374|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:234811561046421561046421:g.156104642T>CClinGen:CA018453C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)4000LMNAPathogenic61214927RCV000015615|RCV000057443; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN51720211561046441561046441:g.156104644G>AClinGen:CA018460,UniProtKB:P02545#VAR_039770,OMIM:150330.0042C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.717C>A (p.Ser239Arg)4000LMNAUncertain significance2102881081RCV002226591; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:23481156104673156104673156104673-
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)4000LMNAConflicting interpretations of pathogenicity150924946RCV000041378|RCV000148604|RCV000619864|RCV000726532|RCV000777745|RCV001086902|RCV001174244; NMedGen:CN169374|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN230736|MedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MOND11561050621561050621:g.156105062A>GClinGen:CA014949CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)4000LMNAPathogenic/Likely pathogenic267607555RCV000057218|RCV000500548|RCV000653911|RCV000754811|RCV000845011|RCV002504959; NMedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|6 conditions|11 conditions1156105800156105800NC_000001.10:g.156105800C>TClinGen:CA016479C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)4000LMNAConflicting interpretations of pathogenicity267607603RCV000057240|RCV000259097|RCV000289312|RCV000293812|RCV000259414|RCV000298159|RCV000324542|RCV000263024|RCV000327855|RCV000355460|RCV000377531|RCV000384768|RCV000536971|RCV000619516|RCV000776145|RCV001093854|RCV001098597; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MedGen:CN239310|MedGen:CN239184|MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,11561059041561059041:g.156105904G>AClinGen:CA016698CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)4000LMNAConflicting interpretations of pathogenicity58672172RCV000015616|RCV000057255|RCV000653937|RCV001188431|RCV001174241|RCV001257937|RCV002336085; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0015626,MedGen:C0007959,11561060421561060421:g.156106042C>TUniProtKB:P02545#VAR_039778,OMIM:150330.0043,ClinGen:CA016847C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)4000LMNAConflicting interpretations of pathogenicity62636506RCV000057267|RCV001182564|RCV001225469|RCV003407439|RCV002381365|RCV003326119; NMedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746||MedGen:CN230736|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:234811561061621561061621:g.156106162C>TClinGen:CA016991,UniProtKB:P02545#VAR_070181CN517202 not provided;
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)4000LMNABenign505058RCV000041315|RCV000057270|RCV000252403|RCV000268754|RCV000278595|RCV000300868|RCV000304015|RCV000326241|RCV000357954|RCV000351015|RCV000360967|RCV000392971|RCV000402362|RCV000776001|RCV001098691|RCV001093809|RCV001173417|RCV003125875; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973|MedGen:CN239184|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740|MO11561061851561061851:g.156106185T>CClinGen:CA017015CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)4000LMNAPathogenic/Likely pathogenic61282106RCV000015584|RCV000057287|RCV001851878; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:6474611561067251561067251:g.156106725G>AClinGen:CA017164,UniProtKB:P02545#VAR_009989,OMIM:150330.0015C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)4000LMNAPathogenic57920071RCV000015579|RCV000057298|RCV001174239|RCV001248961|RCV001235764|RCV001266075|RCV002390112|RCV002482872; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0020088,MedGen:C0271694,OMIM:PS151660, Orphanet:98306|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:6411561067751561067751:g.156106775C>TClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)4000LMNAConflicting interpretations of pathogenicity11575937RCV000057299|RCV000041318|RCV000015575|RCV000190399|RCV000459624|RCV000754814|RCV000763258|RCV001179839|RCV001822996|RCV002390111|RCV003398518; NMedGen:C3661900|MONDO:MONDO:0021106,MedGen:C5392094, Orphanet:98301|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0014676,MedGen:C2750035,OMIM:616516, Orphanet:261|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MONDO:MONDO:11561067761561067761:g.156106776G>AClinGen:CA014814,UniProtKB:P02545#VAR_009992,OMIM:150330.0010C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)4000LMNAUncertain significance11575937RCV000015580|RCV000057300|RCV001098782|RCV001097055|RCV001097056|RCV001098784|RCV001098785|RCV001098786|RCV001098787|RCV001098783|RCV001098788; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:C3661900|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0021569,MedGen:C04101911561067761561067761:g.156106776G>TClinGen:CA017271,UniProtKB:P02545#VAR_009991,OMIM:150330.0012C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)4000LMNAPathogenic59981161RCV000057302|RCV000193901; NMedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:234811561067891561067891:g.156106789G>TClinGen:CA017283,UniProtKB:P02545#VAR_009994C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)4000LMNAConflicting interpretations of pathogenicity200466188RCV000235878|RCV000653862|RCV000681642|RCV001100614|RCV001100615|RCV001100616|RCV001100617|RCV001100889|RCV001098789|RCV001100613|RCV001100618|RCV001100620|RCV001100619|RCV001180056|RCV002392729|RCV002494678; NMedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|11 conditions|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0007269,MedGen:C1449563,11561068181561068181:g.156106818C>TClinGen:CA050321C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)4000LMNAConflicting interpretations of pathogenicity375516745RCV000272434|RCV000279873|RCV000283389|RCV000295329|RCV000329882|RCV000337310|RCV000341138|RCV000364565|RCV000387328|RCV000399235|RCV000424743|RCV000733840|RCV000769730|RCV001093869|RCV001097147|RCV002392823; NMONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,Orph1156106819156106819NC_000001.10:g.156106819G>AClinGen:CA050383C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1488+5G>C4000LMNAPathogenic267607543RCV000015610|RCV000057307; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN51720211561068241561068241:g.156106824G>CClinGen:CA017326,OMIM:150330.0039C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1488+14C>T4000LMNAConflicting interpretations of pathogenicity377700689RCV000154749|RCV001097151|RCV001098889|RCV001097150|RCV001098891|RCV001097152|RCV001098890|RCV001098892|RCV001098893|RCV001097148|RCV001097149|RCV001173408|RCV001795278|RCV001850119|RCV003162630; NMedGen:CN169374|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261|MONDO:MONDO:0013178,MedGen:C275078511561068331561068331:g.156106833C>TClinGen:CA017307CN169374 not specified;
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)4000LMNAPathogenic57520892RCV000015569|RCV000015570|RCV000057327|RCV000700159|RCV001375641; NMONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350, Orphanet:261, Orphanet:264|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|EFO:EFO_0000407,Human Phenotype Ontology:HP:00016411561069951561069951:g.156106995G>CClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)4000LMNAPathogenic/Likely pathogenic57629361RCV000057329|RCV000472329|RCV000499741|RCV001814041; NMedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C402174511561069981561069981:g.156106998C>GClinGen:CA017510,UniProtKB:P02545#VAR_039785C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)4000LMNAConflicting interpretations of pathogenicity60580541RCV000015608|RCV000057332|RCV002399329|RCV002467496|RCV003234906; NMONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350, Orphanet:261, Orphanet:26411561070011561070011:g.156107001C>TClinGen:CA017534,UniProtKB:P02545#VAR_034709,OMIM:150330.0037C0432291 248370 Mandibuloacral dysostosis;
NM_170707.4(LMNA):c.1698C>T (p.His566=)4000LMNABenign4641RCV000041327|RCV000057348|RCV000225004|RCV000252567|RCV000280696|RCV000307278|RCV000313972|RCV000335127|RCV000339153|RCV000350197|RCV000375103|RCV000393593|RCV000398387|RCV000775990|RCV001093768|RCV001098384|RCV001173414|RCV003125876; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MedGen:CN230736|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261|MON11561075341561075341:g.156107534C>TClinGen:CA017662CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1698+57G>A4000LMNAConflicting interpretations of pathogenicity557334569RCV000263913|RCV000267234|RCV000278097|RCV000293451|RCV000318957|RCV000322274|RCV000333140|RCV000358640|RCV000361986|RCV000373664|RCV001099085; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973|MedGen:CN239184|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:1766701156107591156107591NC_000001.10:g.156107591G>AClinGen:CA051003C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1699-2A>G4000LMNALikely pathogenic2102901069RCV001706860; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:23481156108277156108277156108277-
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)4000LMNAUncertain significance1250355311RCV001799386|RCV003227992; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348; MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:3007511156108292156108292156108292-
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)4000LMNAConflicting interpretations of pathogenicity60890628RCV000015612|RCV000015613|RCV000015614|RCV000041329|RCV000057351|RCV000617932|RCV000653881|RCV001188887|RCV001248900|RCV002221478|RCV002509159; NMONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN043412|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenot11561082981561082981:g.156108298C>TClinGen:CA020299,UniProtKB:P02545#VAR_039789,OMIM:150330.0041CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)4000LMNAConflicting interpretations of pathogenicity57830985RCV000015585|RCV000057353|RCV001068657|RCV001804734|RCV002399327|RCV003398519; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|11561083251561083251:g.156108325G>AClinGen:CA020309,UniProtKB:P02545#VAR_009998,OMIM:150330.0016C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)4000LMNAConflicting interpretations of pathogenicity59601651RCV000618100|RCV000653858|RCV002504960|RCV000057354|RCV001182287|RCV003333022; NMedGen:CN230736|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|11 conditions|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:234811561083281561083281:g.156108328C>TClinGen:CA020320CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)4000LMNAConflicting interpretations of pathogenicity56657623RCV000041330|RCV000057355|RCV001065506|RCV001184222|RCV002467559|RCV002504919|RCV003162351; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|11 conditions|MedGen1156108331156108331NC_000001.10:g.156108331G>AClinGen:CA020327
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)4000LMNAUncertain significance752598065RCV000533234|RCV000658526|RCV003335301; NMONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MedGen:C3661900|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:234811561084991561084991:g.156108499A>GClinGen:CA051671C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)4000LMNAPathogenic863225024RCV000057376|RCV000201023|RCV001051453|RCV002415512; NMedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MedGen:CN23073611561085411561085411:g.156108540_156108541insGClinGen:CA020498C1720860 151660 Familial partial lipodystrophy 2;
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