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_001282625.2(LMNA):c.-206-20C>T4000LMNAUncertain significancers886045354RCV000261321|RCV000265425|RCV000274059|RCV000301121|RCV000316510|RCV000313835|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|1156084484156084484CTNC_000001.10:g.156084484C>TClinGen:CA10607970C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)4000LMNAPathogenic/Likely pathogenicrs57077886RCV000015599|RCV000057387|RCV000502816|RCV000755005|RCV000622546; NMONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|Human Phenotype Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787|MeSH:D030342,MedGen:C09501231156084738156084738CT1:g.156084738C>TClinGen:CA017867,UniProtKB:P02545#VAR_039745,OMIM:150330.0029C1449563 115200 Dilated cardiomyopathy 1A;
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)4000LMNAPathogenicrs28928900RCV000015567|RCV000015566|RCV000057359; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN5172021156084887156084887CG1:g.156084887C>GClinGen:CA017722,UniProtKB:P02545#VAR_034706,OMIM:150330.0005C1449563 115200 Dilated cardiomyopathy 1A;
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)4000LMNAPathogenicrs56793579RCV000057365|RCV000503031|RCV000780387|RCV001051802; NMedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:647461156084893156084893CG1:g.156084893C>GClinGen:CA017741,UniProtKB:P02545#VAR_039755C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.356+12C>A4000LMNAUncertain significancers1649747809RCV001099883|RCV001099887|RCV001099884|RCV001099885|RCV001099888|RCV001099886|RCV001101875|RCV001101876|RCV001101877|RCV001101874; NMONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|M1156085077156085077CA1:g.156085077C>A-
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)4000LMNAPathogenicrs60864230RCV000015577|RCV000015578|RCV000057399|RCV001387326; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:C2750285|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:647461156100449156100449GT1: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 pathogenicityrs886045365RCV000259634|RCV000271579|RCV000277232|RCV000312526|RCV000319234|RCV000338954|RCV000367228|RCV000373949|RCV000366122|RCV000372986|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|MON1156104183156104183CTNC_000001.10:g.156104183C>TClinGen:CA10608308C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)4000LMNAPathogenicrs61214927RCV000015615|RCV000057443; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN5172021156104644156104644GA1:g.156104644G>AClinGen:CA018460,UniProtKB:P02545#VAR_039770,OMIM:150330.0042C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)4000LMNAUncertain significancers397517907RCV000041363|RCV000237089|RCV000707020|RCV001100063|RCV001100064|RCV001100065|RCV001098298|RCV001100066|RCV001100068|RCV001100067|RCV001100070|RCV001100069|RCV001102065|RCV001174245|RCV001186222; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0021569,MedGen:C0411156104705156104705CTNC_000001.10:g.156104705C>TClinGen:CA018573C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)4000LMNAConflicting interpretations of pathogenicityrs150924946RCV000041378|RCV000148604|RCV000619864|RCV000726532|RCV000777745|RCV001086902|RCV001174244; NMedGen:CN169374|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN230736|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MOND1156105062156105062AG1:g.156105062A>GClinGen:CA014949CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)4000LMNAUncertain significancers1212920276RCV000712227|RCV001100254|RCV001100255|RCV001100256|RCV001100257|RCV001100258|RCV001098489|RCV001098491|RCV001098492|RCV001098493|RCV001098490|RCV001188467|RCV001372393; NMedGen:CN517202|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:2483701156105708156105708CTNC_000001.10:g.156105708C>T-
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)4000LMNAPathogenic/Likely pathogenicrs267607555RCV000057218|RCV000500548|RCV000653911|RCV000754811|RCV000845011; 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 conditions1156105800156105800CTNC_000001.10:g.156105800C>TClinGen:CA016479C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)4000LMNAConflicting interpretations of pathogenicityrs58672172RCV000015616|RCV000057255|RCV000653937|RCV001174241|RCV001257937|RCV001188431; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phe1156106042156106042CT1:g.156106042C>TClinGen:CA016847,UniProtKB:P02545#VAR_039778,OMIM:150330.0043C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)4000LMNABenignrs505058RCV000041315|RCV000057270|RCV000252403|RCV000268754|RCV000278595|RCV000300868|RCV000304015|RCV000326241|RCV000351015|RCV000360967|RCV000357954|RCV000392971|RCV000402362|RCV000776001|RCV001093809|RCV001098691|RCV001173417; NMedGen:CN169374|MedGen:CN517202|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|MO1156106185156106185TC1:g.156106185T>CClinGen:CA017015CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)4000LMNAConflicting interpretations of pathogenicityrs61282106RCV000015584|RCV000057287|RCV001851878; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:647461156106725156106725GA1: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)4000LMNAPathogenicrs57920071RCV000015579|RCV000057298|RCV001174239|RCV001248961|RCV001235764|RCV001266075; 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:641156106775156106775CT1: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 pathogenicityrs11575937RCV000015575|RCV000041318|RCV000057299|RCV000190399|RCV000459624|RCV000754814|RCV000763258|RCV001179839|RCV001822996; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0021106,MedGen:CN236383, Orphanet:98301|MedGen:CN517202|MONDO:MONDO:0014676,MedGen:C2750035,OMIM:616516, Orphanet:261|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|MONDO:MONDO:1156106776156106776GA1:g.156106776G>AOMIM:150330.0010,ClinGen:CA014814,UniProtKB:P02545#VAR_009992C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)4000LMNAUncertain significancers11575937RCV000015580|RCV000057300|RCV001098782|RCV001098784|RCV001098785|RCV001098786|RCV001098787|RCV001097055|RCV001097056|RCV001098783|RCV001098788; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN517202|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588,Or1156106776156106776GT1: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)4000LMNAPathogenicrs59981161RCV000057302|RCV000193901; NMedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:23481156106789156106789GT1:g.156106789G>TClinGen:CA017283,UniProtKB:P02545#VAR_009994C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)4000LMNAUncertain significancers200466188RCV000235878|RCV000653862|RCV000681642|RCV001100889|RCV001100619|RCV001100614|RCV001100615|RCV001100616|RCV001100617|RCV001098789|RCV001100613|RCV001100618|RCV001100620|RCV001180056; NMedGen:CN517202|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|11 conditions|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,1156106818156106818CT1:g.156106818C>TClinGen:CA050321C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)4000LMNAConflicting interpretations of pathogenicityrs375516745RCV000272434|RCV000279873|RCV000283389|RCV000295329|RCV000329882|RCV000337310|RCV000341138|RCV000364565|RCV000387328|RCV000399235|RCV000424743|RCV000733840|RCV000769730|RCV001093869|RCV001097147; 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,Orph1156106819156106819GANC_000001.10:g.156106819G>AClinGen:CA050383C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1488+5G>C4000LMNAPathogenicrs267607543RCV000015610|RCV000057307; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN5172021156106824156106824GC1:g.156106824G>CClinGen:CA017326,OMIM:150330.0039C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)4000LMNAPathogenicrs57520892RCV000015569|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:0001641156106995156106995GC1: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 pathogenicrs57629361RCV000057329|RCV000472329|RCV000499741|RCV001814041; NMedGen:CN517202|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:C40217451156106998156106998CG1:g.156106998C>GClinGen:CA017510,UniProtKB:P02545#VAR_039785C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1698C>T (p.His566=)4000LMNABenignrs4641RCV000041327|RCV000057348|RCV000225004|RCV000252567|RCV000280696|RCV000307278|RCV000313972|RCV000335127|RCV000339153|RCV000350197|RCV000375103|RCV000393593|RCV000398387|RCV000775990|RCV001093768|RCV001098384|RCV001173414; NMedGen:CN169374|MedGen:CN517202|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|MON1156107534156107534CT1:g.156107534C>TClinGen:CA017662CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1698+57G>A4000LMNAConflicting interpretations of pathogenicityrs557334569RCV000263913|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:1766701156107591156107591GANC_000001.10:g.156107591G>AClinGen:CA051003C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1698+83G>A4000LMNAUncertain significancers555844506RCV001099172|RCV001099173|RCV001099170|RCV001099174|RCV001099171|RCV001101162|RCV001101164|RCV001101161|RCV001101163|RCV001101165; NMONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153|MedGen:CN239184|MONDO:MONDO:0010143,MedGen:C0406585,OMIM:275210, Orphanet:1662|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0008310,MedGen:C0033300,1156107617156107617GA1:g.156107617G>A-
NM_170707.4(LMNA):c.1699-2A>G4000LMNALikely pathogenic-1RCV001706860; NMONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:23481156108277156108277AG156108277-
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)4000LMNAConflicting interpretations of pathogenicityrs60890628RCV000015612|RCV000015613|RCV000015614|RCV000041329|RCV000057351|RCV000617932|RCV000653881|RCV001188887|RCV001248900; NMONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN043412|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746|Human Phenot1156108298156108298CT1: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 pathogenicityrs57830985RCV000015585|RCV000057353|RCV001068657|RCV001804734; 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:1678481156108325156108325GA1:g.156108325G>AClinGen:CA020309,UniProtKB:P02545#VAR_009998,OMIM:150330.0016C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)4000LMNAPathogenicrs863225024RCV000057376|RCV000201023|RCV001051453; NMedGen:CN517202|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:647461156108541156108541CCG1:g.156108540_156108541insGClinGen:CA020498C1720860 151660 Familial partial lipodystrophy 2;
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