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 significance-1RCV001169432; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567632139567632GA9:g.139567632G>A-
NM_006412.4(AGPAT2):c.*535C>T10555AGPAT2Benignrs138670030RCV000352516; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567669139567669GA9:g.139567669G>AClinGen:CA10626913
NM_006412.4(AGPAT2):c.*517C>T10555AGPAT2Benignrs10320RCV000406791; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567687139567687GA9:g.139567687G>AClinGen:CA10633280
NM_006412.4(AGPAT2):c.*514A>C10555AGPAT2Uncertain significancers886063717RCV000312862; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567690139567690TG9:g.139567690T>GClinGen:CA10633281
NM_006412.4(AGPAT2):c.*512G>A10555AGPAT2Uncertain significancers555467686RCV000365074; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567692139567692CT9:g.139567692C>TClinGen:CA10633287
NM_006412.4(AGPAT2):c.*510C>T10555AGPAT2Likely benign-1RCV001166489; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567694139567694GA9:g.139567694G>A-
NM_006412.4(AGPAT2):c.*488C>T10555AGPAT2Uncertain significance-1RCV001166490; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567716139567716GA9:g.139567716G>A-
NM_006412.4(AGPAT2):c.*442C>G10555AGPAT2Benignrs6951RCV000272757; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567762139567762GC9:g.139567762G>CClinGen:CA10626914
NM_006412.4(AGPAT2):c.*418G>A10555AGPAT2Uncertain significancers886063718RCV000306946; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567786139567786CT9:g.139567786C>TClinGen:CA10626915
NM_006412.4(AGPAT2):c.*411C>T10555AGPAT2Uncertain significance-1RCV001167015; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567793139567793GA9:g.139567793G>A-
NM_006412.4(AGPAT2):c.*382C>T10555AGPAT2Uncertain significance-1RCV001167016; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567822139567822GA9:g.139567822G>A-
NM_006412.4(AGPAT2):c.*354C>T10555AGPAT2Uncertain significancers886063719RCV000363906; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567850139567850GA9:g.139567850G>AClinGen:CA10633019
NM_006412.4(AGPAT2):c.*277C>T10555AGPAT2Uncertain significance-1RCV001167017; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567927139567927GA9:g.139567927G>A-
NM_006412.4(AGPAT2):c.*239G>A10555AGPAT2Benignrs56310643RCV000267311; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567965139567965CT9:g.139567965C>TClinGen:CA10626916
NM_006412.4(AGPAT2):c.*236C>T10555AGPAT2Likely benign-1RCV001167018; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567968139567968GA9:g.139567968G>A-
NM_006412.4(AGPAT2):c.*232C>T10555AGPAT2Uncertain significance-1RCV001167019; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567972139567972GA9:g.139567972G>A-
NM_006412.4(AGPAT2):c.*230C>T10555AGPAT2Likely benignrs190437134RCV000324871; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567974139567974GA9:g.139567974G>AClinGen:CA10633288
NM_006412.4(AGPAT2):c.*217G>A10555AGPAT2Uncertain significancers886063720RCV000266024; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567987139567987CT9:g.139567987C>TClinGen:CA10626923
NM_006412.4(AGPAT2):c.*211G>A10555AGPAT2Uncertain significance-1RCV001168727; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139567993139567993CT9:g.139567993C>T-
NM_006412.4(AGPAT2):c.*201G>C10555AGPAT2Uncertain significancers567964604RCV000319061; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568003139568003CG9:g.139568003C>GClinGen:CA10629610
NM_006412.4(AGPAT2):c.*164C>A10555AGPAT2Uncertain significancers777619886RCV000375973; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568040139568040GT9:g.139568040G>TClinGen:CA10633022
NM_006412.4(AGPAT2):c.*157C>T10555AGPAT2Benignrs4880119RCV000279085; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568047139568047GA9:g.139568047G>AClinGen:CA10629616
NM_006412.4(AGPAT2):c.*102C>T10555AGPAT2Likely benign-1RCV001168728; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568102139568102GA9:g.139568102G>A-
NM_006412.4(AGPAT2):c.*79C>G10555AGPAT2Benignrs112657922RCV000336524; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568125139568125GC9:g.139568125G>CClinGen:CA10633292C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*48T>C10555AGPAT2Likely benign-1RCV001169497; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568156139568156AG9:g.139568156A>G-
NM_006412.4(AGPAT2):c.*45C>A10555AGPAT2Uncertain significancers769602973RCV000388892; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568159139568159GT9:g.139568159G>TClinGen:CA5342788C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*34C>G10555AGPAT2Uncertain significance-1RCV001169498; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568170139568170GC9:g.139568170G>C-
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met)10555AGPAT2Uncertain significancers368902934RCV000292158; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568221139568221CT9:g.139568221C>TClinGen:CA5342803C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)10555AGPAT2Uncertain significance-1RCV001169499; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568228139568228CA9: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:5289139568232139568232GA9:g.139568232G>AClinGen:CA5342808C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)10555AGPAT2Uncertain significance-1RCV001169501; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568253139568253GA9:g.139568253G>A-
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)10555AGPAT2Uncertain significance-1RCV001169502; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568255139568255GA9:g.139568255G>A-
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=)10555AGPAT2Uncertain significancers761143874RCV000349526; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568258139568258CT9:g.139568258C>TClinGen:CA5342820C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)10555AGPAT2Pathogenicrs1057517656RCV000412504; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568278139568286GTGGTCCTCAG9:g.139568278_139568286delClinGen: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:5289139568279139568279GA9:g.139568279G>A-
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)10555AGPAT2Uncertain significance-1RCV001165476; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568292139568292CT9:g.139568292C>T-
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)10555AGPAT2Uncertain significancers767338891RCV000390096; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568293139568293GA9:g.139568293G>AClinGen:CA5342830C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)10555AGPAT2Benignrs117434864RCV000910591|RCV001165477; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568300139568300GA9:g.139568300G>A-
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)10555AGPAT2Uncertain significancers200288462RCV000291123; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568309139568309GA9: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:5289139568321139568321GA9:g.139568321G>AClinGen:CA5342842C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)10555AGPAT2Benign/Likely benignrs145975461RCV000594308|RCV001165478; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568325139568325GA9:g.139568325G>AClinGen:CA5342845CN169374 not specified;
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)10555AGPAT2Pathogenicrs200656731RCV000412633; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568328139568328GC9:g.139568328G>CClinGen:CA5342848
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=)10555AGPAT2Benignrs116951119RCV000116252|RCV001167073; NMedGen:CN169374|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568339139568339GA9: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:5289139568343139568343GT9:g.139568343G>T-
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)10555AGPAT2Pathogenicrs104894100RCV000007006; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568358139568358AG9:g.139568358A>GOMIM:603100.0004,ClinGen:CA277946,UniProtKB:O15120#VAR_017327C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)10555AGPAT2Pathogenicrs1057517655RCV000412578; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568365139568365GA9:g.139568365G>AClinGen:CA16042193C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.662-5C>G10555AGPAT2Likely benignrs199964729RCV000390445; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139568384139568384GC9:g.139568384G>CClinGen:CA5342859
NM_006412.4(AGPAT2):c.661+2T>G10555AGPAT2Pathogenicrs1057517654RCV000412521; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569185139569185AC9:g.139569185A>CClinGen:CA16042194
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)10555AGPAT2Uncertain significance-1RCV001167074; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569201139569201TA9: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:CN5172029139569202139569202TA9:g.139569202T>AClinGen:CA5342894
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)10555AGPAT2Pathogenicrs121908925RCV000007008; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569205139569205TA9:g.139569205T>AClinGen:CA277949,OMIM:603100.0006C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)10555AGPAT2Pathogenicrs1564290079RCV000754915; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569222139569226GGAGGAG9:g.139569222_139569226del-
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)10555AGPAT2Uncertain significancers372408400RCV000358360; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569244139569244CT9:g.139569244C>TClinGen:CA5342909
NM_006412.4(AGPAT2):c.589-2A>G10555AGPAT2Pathogenicrs116807569RCV000007004; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139569261139569261TC9:g.139569261T>COMIM:603100.0002,ClinGen:CA277944
NM_006412.4(AGPAT2):c.366_588+534del10555AGPAT2Pathogenic-1RCV000007011; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139570503139571539ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCA9:g.139570503_139570601deldbVar:nssv3761633,OMIM:603100.0009,ClinGen:CA277954C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)10555AGPAT2Pathogenicrs121908926RCV000007010; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571055139571055GT9:g.139571055G>TClinGen:CA277952,OMIM:603100.0008C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.538del (p.Asp180fs)10555AGPAT2Pathogenicrs1057517653RCV000412491; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571087139571087TCT9:g.139571087_139571087delClinGen:CA16042195
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)10555AGPAT2Likely pathogenicrs748157664RCV000412645|RCV000494007; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139571111139571111CT9:g.139571111C>TClinGen:CA5342949
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)10555AGPAT2Pathogenicrs1564290914RCV000754914; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571112139571112CGC9:g.139571112_139571112del-
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)10555AGPAT2Pathogenicrs1057518714RCV000414972; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571122139571122CT9:g.139571122C>TClinGen:CA16043672
NM_006412.4(AGPAT2):c.493-1G>C10555AGPAT2Pathogenicrs606231168RCV000007009; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571133139571133CG9:g.139571133C>GClinGen:CA277951,OMIM:603100.0007
NM_006412.4(AGPAT2):c.493-7C>T10555AGPAT2Uncertain significance-1RCV001167075; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571139139571139GA9:g.139571139G>A-
NM_006412.4(AGPAT2):c.492+4_492+7del10555AGPAT2Uncertain significancers1057518715RCV000414842; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571406139571409ACACTA9:g.139571406_139571409delClinGen:CA16043673C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.492+1G>A10555AGPAT2Pathogenicrs933422777RCV000412609; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571412139571412CT9:g.139571412C>TClinGen:CA16042196
NM_006412.4(AGPAT2):c.483C>T (p.Val161=)10555AGPAT2Uncertain significancers370441324RCV000304647; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571422139571422GA9:g.139571422G>AClinGen:CA5342991
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)10555AGPAT2Uncertain significancers374919945RCV000354825; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571429139571429CA9:g.139571429C>AClinGen:CA5342995
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)10555AGPAT2Benignrs142993240RCV000193694|RCV000445508|RCV000883942|RCV001167076; NMedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571430139571430GA9:g.139571430G>AClinGen:CA207355
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=)10555AGPAT2Uncertain significancers886063721RCV000259829; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571452139571452TC9:g.139571452T>CClinGen:CA10633295
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del)10555AGPAT2Pathogenicrs387906356RCV000007007; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571485139571487TGAAT9:g.139571485_139571487delClinGen:CA277947,OMIM:603100.0005C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)10555AGPAT2Uncertain significance-1RCV001167653; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571490139571490AC9:g.139571490A>C-
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)10555AGPAT2Pathogenicrs797045222RCV000193026; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571499139571499CT9:g.139571499C>TClinGen:CA278000,UniProtKB:O15120#VAR_017328
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)10555AGPAT2Uncertain significance-1RCV001167654; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571508139571508TC9:g.139571508T>C-
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)10555AGPAT2Pathogenicrs387906355RCV000007005; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571527139571528CCA9:g.139571527_139571528insAClinGen:CA277945,OMIM:603100.0003C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)10555AGPAT2Uncertain significance-1RCV001167655; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571544139571544GC9:g.139571544G>C-
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:CN5172029139571560139571560GA9: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:5289139571570139571570GA9:g.139571570G>AClinGen:CA10633299
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)10555AGPAT2Likely pathogenicrs1588263957RCV000985088; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571570139571570CGC9: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:CN5172029139571595139571595GA9:g.139571595G>AClinGen:CA151607C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.316+15G>A10555AGPAT2Uncertain significancers531012485RCV000330045; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571860139571860CT9:g.139571860C>TClinGen:CA5343078
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)10555AGPAT2Conflicting interpretations of pathogenicityrs746809573RCV000389300|RCV000418715; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139571876139571876CA9:g.139571876C>AClinGen:CA5343082
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)10555AGPAT2Pathogenicrs764260414RCV000412496; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571892139571892CT9:g.139571892C>TClinGen:CA5343086
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)10555AGPAT2Uncertain significance-1RCV001169546; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571909139571909GA9:g.139571909G>A-
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)10555AGPAT2Uncertain significancers142176861RCV000277912|RCV001169547; NMedGen:CN517202|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571922139571922CT9:g.139571922C>TClinGen:CA5343091CN169374 not specified;
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=)10555AGPAT2Uncertain significancers543374987RCV000294844; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571957139571957GA9:g.139571957G>AClinGen:CA5343100
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)10555AGPAT2Pathogenicrs104894093RCV000007003; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571989139571989GA9: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; NMONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571992139571992CT9:g.139571992C>TClinGen:CA5343113C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)10555AGPAT2Pathogenicrs1057517651RCV000412547; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139571997139571997CT9:g.139571997C>TClinGen:CA16042197
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)10555AGPAT2Benign/Likely benignrs150180733RCV000326364|RCV000909739; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139572002139572002GA9:g.139572002G>AClinGen:CA5343118
NM_006412.4(AGPAT2):c.183-2A>G10555AGPAT2Pathogenicrs1057517649RCV000412588; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139572010139572010TC9:g.139572010T>CClinGen:CA16042198
NM_006412.4(AGPAT2):c.182+8C>T10555AGPAT2Benign/Likely benignrs199860398RCV000381250|RCV000882452; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139581620139581620GA9:g.139581620G>AClinGen:CA5343148
NM_006412.4(AGPAT2):c.182+6G>A10555AGPAT2Benign/Likely benignrs373540283RCV000291539|RCV000885393; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528|MedGen:CN5172029139581622139581622CT9:g.139581622C>TClinGen:CA5343149
NM_006412.4(AGPAT2):c.182+1G>A10555AGPAT2Pathogenicrs1057517650RCV000412655; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581627139581627CT9:g.139581627C>TClinGen:CA16042199
NM_006412.4(AGPAT2):c.54G>A (p.Val18=)10555AGPAT2Uncertain significance-1RCV001169549; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581756139581756CT9:g.139581756C>T-
NM_006412.4(AGPAT2):c.-4G>C10555AGPAT2Uncertain significancers886063724RCV000282778; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581813139581813CG9:g.139581813C>GClinGen:CA10633063
NM_006412.4(AGPAT2):c.-18C>A10555AGPAT2Uncertain significance-1RCV001165541; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581827139581827GT9:g.139581827G>T-
NM_006412.4(AGPAT2):c.-19T>C10555AGPAT2Uncertain significance-1RCV001165542; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581828139581828AG9:g.139581828A>G-
NM_006412.4(AGPAT2):c.-61G>C10555AGPAT2Uncertain significancers886063725RCV000398551; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581870139581870CG9:g.139581870C>GClinGen:CA10626930
NM_006412.4(AGPAT2):c.-62G>A10555AGPAT2Uncertain significancers566958496RCV000298125; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581871139581871CT9:g.139581871C>TClinGen:CA10626934
NM_006412.4(AGPAT2):c.-67G>C10555AGPAT2Benignrs146341067RCV000353053; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581876139581876CG9:g.139581876C>GClinGen:CA10626936
NM_006412.4(AGPAT2):c.-68C>G10555AGPAT2Uncertain significancers886063726RCV000392835; NMONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:5289139581877139581877GC9:g.139581877G>CClinGen:CA10629635
MSeqDR Portal