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:7087
Name:Lipodystrophy, Congenital Generalized
Definition:Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Alternative IDs:OMIM:269700|OMIM:608594
ParentIDs:MESH:D008052|MESH:D008060
TreeNumbers:C16.320.565.398.745 |C17.800.849.391.550 |C18.452.584.625.550 |C18.452.648.398.745 |C18.452.880.391.550
Synonyms:AGPAT2-Related Brunzell Syndrome |Berardinelli Seip Congenital Lipodystrophy |Berardinelli-Seip Congenital Lipodystrophy |Berardinelli Seip Congenital Lipodystrophy Type 1 |Berardinelli Seip Congenital Lipodystrophy, Type 1 |Berardinelli-Seip Congenital Lipod
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: D052497
MeSH: D052497
OMIM: 608594;
MSeqDR LSDB:  
Genes: AGPAT2; BSCL2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000956Acanthosis nigricans
3 HP:0005616Accelerated skeletal maturation
4 HP:0001735Acute pancreatitis
5 HP:0001638CardiomyopathyHP:0040283
6 HP:0001394Cirrhosis
NAMDC:  Cirrhosis
7 HP:0008665Clitoral hypertrophy
8 HP:0002833Cystic angiomatosis of bone
9 HP:0000868Decreased fertility in females
10 HP:0003292Decreased serum leptin
11 HP:0002910Elevated hepatic transaminases
12 HP:0003716Generalized muscular appearance from birth
13 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
14 HP:0002240Hepatomegaly
15 HP:0001425Heterogeneous
16 HP:0001007Hirsutism
17 HP:0000842Hyperinsulinemia
18 HP:0002155Hypertriglyceridemia
19 HP:0000877Insulin-resistant diabetes mellitus at puberty
20 HP:0000065Labial hypertrophy
21 HP:0001176Large hands
22 HP:0009125Lipodystrophy
23 HP:0001833Long foot
24 HP:0000400Macrotia
25 HP:0000303Mandibular prognathia
26 HP:0000787Nephrolithiasis
27 HP:0000147Polycystic ovaries
28 HP:0002591Polyphagia
29 HP:0001544Prominent umbilicus
30 HP:0003809Reduced intrathoracic adipose tissue
31 HP:0001744Splenomegaly
32 HP:0000098Tall stature
33 HP:0000325Triangular face
34 HP:0001537Umbilical hernia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006412.4(AGPAT2):c.*572C>T10555AGPAT2Uncertain significancers1037877364RCV001169432; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395676321395676329:g.139567632G>A-
NM_006412.4(AGPAT2):c.*535C>T10555AGPAT2Benignrs138670030RCV000352516; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567669139567669NC_000009.11:g.139567669G>AClinGen:CA10626913C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*517C>T10555AGPAT2Benignrs10320RCV000406791; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567687139567687NC_000009.11:g.139567687G>AClinGen:CA10633280C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*514A>C10555AGPAT2Uncertain significancers886063717RCV000312862; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567690139567690NC_000009.11:g.139567690T>GClinGen:CA10633281C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*512G>A10555AGPAT2Uncertain significancers555467686RCV000365074; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567692139567692NC_000009.11:g.139567692C>TClinGen:CA10633287C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*510C>T10555AGPAT2Likely benignrs149296700RCV001166489; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395676941395676949:g.139567694G>A-
NM_006412.4(AGPAT2):c.*488C>T10555AGPAT2Uncertain significancers541153485RCV001166490; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395677161395677169:g.139567716G>A-
NM_006412.4(AGPAT2):c.*442C>G10555AGPAT2Benignrs6951RCV000272757; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567762139567762NC_000009.11:g.139567762G>CClinGen:CA10626914C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*418G>A10555AGPAT2Uncertain significancers886063718RCV000306946; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567786139567786NC_000009.11:g.139567786C>TClinGen:CA10626915C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*411C>T10555AGPAT2Uncertain significancers1564288835RCV001167015; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395677931395677939:g.139567793G>A-
NM_006412.4(AGPAT2):c.*382C>T10555AGPAT2Uncertain significancers955418956RCV001167016; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395678221395678229:g.139567822G>A-
NM_006412.4(AGPAT2):c.*354C>T10555AGPAT2Uncertain significancers886063719RCV000363906; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567850139567850NC_000009.11:g.139567850G>AClinGen:CA10633019C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*277C>T10555AGPAT2Uncertain significancers1039011011RCV001167017; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395679271395679279:g.139567927G>A-
NM_006412.4(AGPAT2):c.*239G>A10555AGPAT2Benignrs56310643RCV000267311; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567965139567965NC_000009.11:g.139567965C>TClinGen:CA10626916C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*236C>T10555AGPAT2Likely benignrs117979028RCV001167018; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395679681395679689:g.139567968G>A-
NM_006412.4(AGPAT2):c.*232C>T10555AGPAT2Uncertain significancers573498539RCV001167019; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395679721395679729:g.139567972G>A-
NM_006412.4(AGPAT2):c.*230C>T10555AGPAT2Likely benignrs190437134RCV000324871; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567974139567974NC_000009.11:g.139567974G>AClinGen:CA10633288C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*217G>A10555AGPAT2Uncertain significancers886063720RCV000266024; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567987139567987NC_000009.11:g.139567987C>TClinGen:CA10626923C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*211G>A10555AGPAT2Uncertain significancers182766891RCV001168727; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395679931395679939:g.139567993C>T-
NM_006412.4(AGPAT2):c.*201G>C10555AGPAT2Uncertain significancers567964604RCV000319061; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568003139568003NC_000009.11:g.139568003C>GClinGen:CA10629610C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*164C>A10555AGPAT2Uncertain significancers777619886RCV000375973; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568040139568040NC_000009.11:g.139568040G>TClinGen:CA10633022C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*157C>T10555AGPAT2Benignrs4880119RCV000279085|RCV001637005; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139568047139568047NC_000009.11:g.139568047G>AClinGen:CA10629616C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*102C>T10555AGPAT2Likely benignrs144522710RCV001168728; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395681021395681029:g.139568102G>A-
NM_006412.4(AGPAT2):c.*79C>G10555AGPAT2Benign/Likely benignrs112657922RCV000336524|RCV001718791; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395681251395681259:g.139568125G>CClinGen:CA10633292C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*48T>C10555AGPAT2Likely benignrs200614462RCV001169497; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395681561395681569:g.139568156A>G-
NM_006412.4(AGPAT2):c.*45C>A10555AGPAT2Uncertain significancers769602973RCV000388892; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395681591395681599:g.139568159G>TClinGen:CA5342788C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*34C>G10555AGPAT2Uncertain significancers749592042RCV001169498; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395681701395681709:g.139568170G>C-
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met)10555AGPAT2Uncertain significancers368902934RCV000292158; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682211395682219:g.139568221C>TClinGen:CA5342803C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)10555AGPAT2Uncertain significancers759149037RCV001169499; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682281395682289:g.139568228C>A-
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)10555AGPAT2Conflicting interpretations of pathogenicityrs142417583RCV000445394|RCV000965123|RCV001169500; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682321395682329:g.139568232G>AClinGen:CA5342808C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)10555AGPAT2Uncertain significancers17848858RCV001169501|RCV002557465; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395682531395682539:g.139568253G>A-
NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg)10555AGPAT2Uncertain significance-1RCV002468530; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568253139568253NC_000009.11:g.139568253G>C-
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)10555AGPAT2Uncertain significancers151215253RCV001169502; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682551395682559:g.139568255G>A-
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=)10555AGPAT2Uncertain significancers761143874RCV000349526; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682581395682589:g.139568258C>TClinGen:CA5342820C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)10555AGPAT2not providedrs1057517656RCV000412504; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568278139568286NC_000009.11:g.139568281_139568289delClinGen:CA16042192
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=)10555AGPAT2Conflicting interpretations of pathogenicityrs146973799RCV000882513|RCV001165475; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682791395682799:g.139568279G>A-
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)10555AGPAT2Uncertain significancers368090654RCV001165476|RCV002558606; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395682921395682929:g.139568292C>T-
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)10555AGPAT2Uncertain significancers767338891RCV000390096; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395682931395682939:g.139568293G>AClinGen:CA5342830C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)10555AGPAT2Benign/Likely benignrs117434864RCV000910591|RCV001165477; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395683001395683009:g.139568300G>A-
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)10555AGPAT2Conflicting interpretations of pathogenicityrs200288462RCV000291123|RCV002524594; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395683091395683099:g.139568309G>AClinGen:CA5342834C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=)10555AGPAT2Uncertain significancers142207711RCV000343775; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395683211395683219:g.139568321G>AClinGen:CA5342842C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)10555AGPAT2Benign/Likely benignrs145975461RCV000594308|RCV001165478|RCV002062081; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395683251395683259:g.139568325G>AClinGen:CA5342845CN169374 not specified;
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)10555AGPAT2not providedrs200656731RCV000412633; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568328139568328NC_000009.11:g.139568328G>CClinGen:CA5342848C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=)10555AGPAT2Benignrs116951119RCV000116252|RCV001167073|RCV002514582; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395683391395683399:g.139568339G>AClinGen:CA151608CN169374 not specified;
NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn)10555AGPAT2Uncertain significancers536777709RCV000788112; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395683431395683439:g.139568343G>T-
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)10555AGPAT2Likely pathogenic-1RCV001706773; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568356139568356139568356-
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)10555AGPAT2Pathogenicrs104894100RCV000007006; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395683581395683589:g.139568358A>GClinGen:CA277946,UniProtKB:O15120#VAR_017327,OMIM:603100.0004C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)10555AGPAT2not providedrs1057517655RCV000412578; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395683651395683659:g.139568365G>AClinGen:CA16042193C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.662-2A>C10555AGPAT2Pathogenic/Likely pathogenicrs1131691791RCV000494035|RCV002506195; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395683811395683819:g.139568381T>GClinGen:CA375577854CN517202 not provided;
NM_006412.4(AGPAT2):c.662-5C>G10555AGPAT2Likely benignrs199964729RCV000390445; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568384139568384NC_000009.11:g.139568384G>CClinGen:CA5342859C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.661+121T>C10555AGPAT2Benign-1RCV001548856|RCV001713019; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139569066139569066139569066-
NM_006412.4(AGPAT2):c.661+2T>G10555AGPAT2not providedrs1057517654RCV000412521; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569185139569185NC_000009.11:g.139569185A>CClinGen:CA16042194C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)10555AGPAT2Conflicting interpretations of pathogenicityrs143244920RCV001167074|RCV001397951|RCV002557435; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202|MeSH:D030342,MedGen:C095012391395692011395692019:g.139569201T>A-
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)10555AGPAT2Conflicting interpretations of pathogenicityrs138994150RCV000412630|RCV000880987; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139569202139569202NC_000009.11:g.139569202T>AClinGen:CA5342894C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)10555AGPAT2Pathogenicrs121908925RCV000007008; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395692051395692059:g.139569205T>AClinGen:CA277949,OMIM:603100.0006C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)10555AGPAT2Conflicting interpretations of pathogenicityrs142248792RCV000445463|RCV000909273|RCV002467799; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395692081395692089:g.139569208T>CClinGen:CA5342897C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)10555AGPAT2Pathogenicrs1564290079RCV000754915; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569222139569226NC_000009.11:g.139569224_139569228del-
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)10555AGPAT2Uncertain significancers372408400RCV000358360; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569244139569244NC_000009.11:g.139569244C>TClinGen:CA5342909C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.589-2A>G10555AGPAT2Pathogenicrs116807569RCV000007004|RCV001579685; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139569261139569261NC_000009.11:g.139569261T>CClinGen:CA277944,OMIM:603100.0002C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.366_588+534del10555AGPAT2Pathogenic-1RCV000007011; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395705031395715399:g.139570503_139570601delClinGen:CA277954,dbVar:nssv3761633,OMIM:603100.0009C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)10555AGPAT2Pathogenicrs121908926RCV000007010; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395710551395710559:g.139571055G>TClinGen:CA277952,OMIM:603100.0008C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.538del (p.Asp180fs)10555AGPAT2not providedrs1057517653RCV000412491; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571087139571087NC_000009.11:g.139571090delClinGen:CA16042195C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)10555AGPAT2Pathogenic/Likely pathogenicrs748157664RCV000412645|RCV000494007; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139571111139571111NC_000009.11:g.139571111C>TClinGen:CA5342949C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)10555AGPAT2Pathogenicrs1564290914RCV000754914; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571112139571112NC_000009.11:g.139571114del-
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)10555AGPAT2Pathogenicrs1057518714RCV000414972; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571122139571122NC_000009.11:g.139571122C>TClinGen:CA16043672C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.493-1G>C10555AGPAT2Pathogenic/Likely pathogenicrs606231168RCV000007009; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571133139571133NC_000009.11:g.139571133C>GClinGen:CA277951,OMIM:603100.0007C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.493-2A>G10555AGPAT2Likely pathogenic-1RCV002470445; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571134139571134NC_000009.11:g.139571134T>C-
NM_006412.4(AGPAT2):c.493-3C>T10555AGPAT2Uncertain significancers764555217RCV000392297|RCV002488824; NHuman Phenotype Ontology:HP:0009059,MONDO:MONDO:0006536,MedGen:C0221032,OMIM:PS608594|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571135139571135NC_000009.11:g.139571135G>AClinGen:CA5342956C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.493-7C>T10555AGPAT2Uncertain significancers1187808090RCV001167075; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395711391395711399:g.139571139G>A-
NM_006412.4(AGPAT2):c.493-17C>A10555AGPAT2Benign/Likely benignrs376439157RCV000241764|RCV002487130|RCV002519928; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395711491395711499:g.139571149G>TClinGen:CA5342962CN169374 not specified;
NM_006412.4(AGPAT2):c.492+4_492+7del10555AGPAT2Uncertain significancers1057518715RCV000414842; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395714061395714099:g.139571406_139571409delClinGen:CA16043673C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.492+1G>A10555AGPAT2Likely pathogenicrs933422777RCV000412609|RCV002274023; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139571412139571412NC_000009.11:g.139571412C>TClinGen:CA16042196C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.483C>T (p.Val161=)10555AGPAT2Uncertain significancers370441324RCV000304647; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571422139571422NC_000009.11:g.139571422G>AClinGen:CA5342991C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)10555AGPAT2Uncertain significancers374919945RCV000354825; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571429139571429NC_000009.11:g.139571429C>AClinGen:CA5342995C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)10555AGPAT2Conflicting interpretations of pathogenicityrs142993240RCV000193694|RCV000445508|RCV000883942|RCV001167076; NMedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571430139571430NC_000009.11:g.139571430G>AClinGen:CA207355C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=)10555AGPAT2Uncertain significancers886063721RCV000259829; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571452139571452NC_000009.11:g.139571452T>CClinGen:CA10633295C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)10555AGPAT2Pathogenicrs387906356RCV000007007; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395714851395714879:g.139571485_139571487delClinGen:CA277947,OMIM:603100.0005C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)10555AGPAT2Uncertain significancers372935354RCV001167653; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395714901395714909:g.139571490A>C-
NM_006412.4(AGPAT2):c.408G>A (p.Gly136=)10555AGPAT2Likely benignrs145467496RCV000897247|RCV002479028; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395714971395714979:g.139571497C>T-
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)10555AGPAT2Pathogenicrs797045222RCV000193026; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571499139571499NC_000009.11:g.139571499C>TClinGen:CA278000,UniProtKB:O15120#VAR_017328C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)10555AGPAT2Uncertain significancers537737741RCV001167654; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395715081395715089:g.139571508T>C-
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)10555AGPAT2Pathogenicrs387906355RCV000007005; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395715271395715289:g.139571527_139571528insAClinGen:CA277945,OMIM:603100.0003C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)10555AGPAT2Pathogenic-1RCV001385113|RCV002246369; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571533139571536139571532-
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)10555AGPAT2Uncertain significancers369878933RCV001167655; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395715441395715449:g.139571544G>C-
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)10555AGPAT2Uncertain significancers114782902RCV000445386|RCV002467800; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395715461395715469:g.139571546T>CClinGen:CA5343037C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)10555AGPAT2Benign/Likely benignrs73668354RCV000244821|RCV000319659|RCV000967144; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395715601395715609:g.139571560G>AClinGen:CA5343040C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)10555AGPAT2Uncertain significancers886063722RCV000412550; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571570139571570NC_000009.11:g.139571570G>AClinGen:CA10633299C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)10555AGPAT2Pathogenicrs1588263957RCV000985088|RCV001819690; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395715701395715709:g.139571570_139571570del-
NM_006412.4(AGPAT2):c.317-7C>T10555AGPAT2Benignrs74584184RCV000116250|RCV000275200|RCV000947220; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395715951395715959:g.139571595G>AClinGen:CA151607C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.316+15G>A10555AGPAT2Uncertain significancers531012485RCV000330045; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571860139571860NC_000009.11:g.139571860C>TClinGen:CA5343078C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)10555AGPAT2Conflicting interpretations of pathogenicityrs746809573RCV000389300|RCV000418715; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139571876139571876NC_000009.11:g.139571876C>AClinGen:CA5343082C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)10555AGPAT2Pathogenicrs764260414RCV000412496; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571892139571892NC_000009.11:g.139571892C>TClinGen:CA5343086C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)10555AGPAT2Uncertain significancers762040181RCV001169546; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395719091395719099:g.139571909G>A-
NM_006412.4(AGPAT2):c.273C>G (p.Pro91=)10555AGPAT2Benign/Likely benignrs548976674RCV000950744|RCV002502921; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395719181395719189:g.139571918G>C-
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)10555AGPAT2Conflicting interpretations of pathogenicityrs142176861RCV000277912|RCV001169547; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395719221395719229:g.139571922C>TClinGen:CA5343091CN169374 not specified;
NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro)10555AGPAT2Uncertain significance-1RCV001822649|RCV002506858; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571922139571922139571922-
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=)10555AGPAT2Uncertain significancers543374987RCV000294844; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571957139571957NC_000009.11:g.139571957G>AClinGen:CA5343100C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His)10555AGPAT2Conflicting interpretations of pathogenicityrs375796317RCV001174397|RCV002497607|RCV002558770; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395719611395719619:g.139571961C>T-
NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys)10555AGPAT2Uncertain significancers151053652RCV000116251|RCV002483193; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571962139571962NC_000009.11:g.139571962G>AClinGen:CA230857CN517202 not provided;
NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg)10555AGPAT2Uncertain significance-1RCV001765132|RCV002496085; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571968139571968139571968-
NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val)10555AGPAT2Uncertain significancers140995132RCV000664131|RCV002485514|RCV002530621; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395719831395719839:g.139571983A>C-C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)10555AGPAT2Pathogenicrs104894093RCV000007003|RCV001701561; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395719891395719899:g.139571989G>AClinGen:CA277942,OMIM:603100.0001C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)10555AGPAT2Conflicting interpretations of pathogenicityrs563539429RCV000445545|RCV001169548|RCV001865409; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN51720291395719921395719929:g.139571992C>TClinGen:CA5343113C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)10555AGPAT2not providedrs1057517651RCV000412547; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571997139571997NC_000009.11:g.139571997C>TClinGen:CA16042197C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser)10555AGPAT2Uncertain significance-1RCV001820383|RCV002482364|RCV002542617; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139572001139572001139572001-
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)10555AGPAT2Benign/Likely benignrs150180733RCV000326364|RCV000909739|RCV001821117; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN517202|MedGen:CN1693749139572002139572002NC_000009.11:g.139572002G>AClinGen:CA5343118C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.183-2A>G10555AGPAT2not providedrs1057517649RCV000412588; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139572010139572010NC_000009.11:g.139572010T>CClinGen:CA16042198C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.183-60G>C10555AGPAT2Benign-1RCV001548857|RCV001647412; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139572068139572068139572068-
NM_006412.4(AGPAT2):c.182+8C>T10555AGPAT2Benign/Likely benignrs199860398RCV000381250|RCV000882452; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139581620139581620NC_000009.11:g.139581620G>AClinGen:CA5343148C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.182+6G>A10555AGPAT2Benign/Likely benignrs373540283RCV000291539|RCV000885393; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139581622139581622NC_000009.11:g.139581622C>TClinGen:CA5343149C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.182+1G>A10555AGPAT2not providedrs1057517650RCV000412655; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581627139581627NC_000009.11:g.139581627C>TClinGen:CA16042199C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.54G>A (p.Val18=)10555AGPAT2Uncertain significancers140553479RCV001169549; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395817561395817569:g.139581756C>T-
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)10555AGPAT2Pathogenic-1RCV002251240; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581772139581772139581772-
NM_006412.4(AGPAT2):c.24C>G (p.Ala8=)10555AGPAT2Likely benignrs987053838RCV000902419|RCV002495456; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395817861395817869:g.139581786G>C-
NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr)10555AGPAT2Uncertain significance-1RCV002468521; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581788139581788NC_000009.11:g.139581788C>T-
NM_006412.4(AGPAT2):c.-4G>C10555AGPAT2Uncertain significancers886063724RCV000282778; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581813139581813NC_000009.11:g.139581813C>GClinGen:CA10633063C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.-18C>A10555AGPAT2Uncertain significancers369999417RCV001165541; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395818271395818279:g.139581827G>T-
NM_006412.4(AGPAT2):c.-19T>C10555AGPAT2Uncertain significancers754090246RCV001165542; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:52891395818281395818289:g.139581828A>G-
NM_006412.4(AGPAT2):c.-61G>C10555AGPAT2Uncertain significancers886063725RCV000398551; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581870139581870NC_000009.11:g.139581870C>GClinGen:CA10626930C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.-62G>A10555AGPAT2Uncertain significancers566958496RCV000298125; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581871139581871NC_000009.11:g.139581871C>TClinGen:CA10626934C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.-67G>C10555AGPAT2Benignrs146341067RCV000353053|RCV001653755; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139581876139581876NC_000009.11:g.139581876C>GClinGen:CA10626936C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.-68C>G10555AGPAT2Uncertain significancers886063726RCV000392835; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581877139581877NC_000009.11:g.139581877G>CClinGen:CA10629635C0221032 Congenital generalized lipodystrophy;
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