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Lipodystrophy, Congenital Generalized (D052497)
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Lipodystrophy, Congenital Generalized, Type 4 (C567642)

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..expandLipodystrophy, Congenital Generalized, Type 3 (C567282)
..expandLipodystrophy, Congenital Generalized, Type 4 (C567642)
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7089
Name:Lipodystrophy, Congenital Generalized, Type 4
Definition:
Alternative IDs:OMIM:613327
ParentIDs:MESH:D052497
TreeNumbers:C16.320.565.398.745/C567642 |C17.800.849.391.550/C567642 |C18.452.584.625.550/C567642 |C18.452.648.398.745/C567642 |C18.452.880.391.550/C567642
Synonyms:Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy |CGL4 |Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: C567642
MeSH: C567642
OMIM: 613327;
MSeqDR LSDB:  
Genes: PTRF;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0000956Acanthosis nigricans
4 HP:0005110Atrial fibrillation
5 HP:0001662Bradycardia
6 HP:0002019Constipation
7 HP:0002015Dysphagia
NAMDC:  Dysphagia
8 HP:0002910Elevated hepatic transaminases
9 HP:0003236Elevated serum creatine phosphokinase
10 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
11 HP:0001508Failure to thrive
12 HP:0011968Feeding difficulties
13 HP:0001371Flexion contracture
14 HP:0003324Generalized muscle weakness
15 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
16 HP:0002240Hepatomegaly
17 HP:0001007HirsutismHP:0040283
18 HP:0000842Hyperinsulinemia
19 HP:0003307Hyperlordosis
20 HP:0002155Hypertriglyceridemia
21 HP:0002720IgA deficiency
22 HP:0002595Ileus
23 HP:0000855Insulin resistance
24 HP:0009125Lipodystrophy
25 HP:0003719Muscle mounding
26 HP:0003552Muscle stiffness
27 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
28 HP:0003326Myalgia
29 HP:0000938Osteopenia
30 HP:0000939Osteoporosis
31 HP:0001657Prolonged QT interval
32 HP:0001544Prominent umbilicus
33 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
34 HP:0002021Pyloric stenosis
35 HP:0002719Recurrent infections
36 HP:0002650Scoliosis
37 HP:0003712Skeletal muscle hypertrophy
38 HP:0003306Spinal rigidity
39 HP:0001744Splenomegaly
40 HP:0001649Tachycardia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_012232.6(CAVIN1):c.*2211G>A284119CAVIN1Likely benignrs74685015RCV000381746; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055449440554494CT17:g.40554494C>TClinGen:CA10639669C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*2115G>T284119CAVIN1Uncertain significancers113990379RCV001122681; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055459040554590CA17:g.40554590C>A-
NM_012232.6(CAVIN1):c.*2048T>C284119CAVIN1Likely benignrs115889684RCV000277969; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055465740554657AG17:g.40554657A>GClinGen:CA10649264C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1990A>C284119CAVIN1Uncertain significancers886052946RCV000333033; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055471540554715TG17:g.40554715T>GClinGen:CA10645671C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1955T>C284119CAVIN1Uncertain significancers1266465226RCV001123785; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055475040554750AG17:g.40554750A>G-
NM_012232.6(CAVIN1):c.*1912C>T284119CAVIN1Likely benignrs12892RCV001123786; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055479340554793GA17:g.40554793G>A-
NM_012232.6(CAVIN1):c.*1895C>G284119CAVIN1Uncertain significancers1240074915RCV001123787; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055481040554810GC17:g.40554810G>C-
NM_012232.6(CAVIN1):c.*1856C>T284119CAVIN1Likely benignrs9252RCV000387587; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055484940554849GA17:g.40554849G>AClinGen:CA10639671C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1788C>G284119CAVIN1Likely benignrs11546699RCV000293275; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055491740554917GC17:g.40554917G>CClinGen:CA10650143C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1749T>C284119CAVIN1Benignrs7212299RCV000338867; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055495640554956AG17:g.40554956A>GClinGen:CA10650144C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1704C>G284119CAVIN1Benignrs7210713RCV000374775; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055500140555001GCNC_000017.10:g.40555001G>CClinGen:CA10649265C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1591T>G284119CAVIN1Benignrs4796582RCV000280273; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055511440555114ACNC_000017.10:g.40555114A>CClinGen:CA10649266C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1549C>T284119CAVIN1Uncertain significancers781740643RCV001126435; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055515640555156GA17:g.40555156G>A-
NM_012232.6(CAVIN1):c.*1508G>A284119CAVIN1Likely benignrs117596331RCV000342466; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055519740555197CTNC_000017.10:g.40555197C>TClinGen:CA10639674C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1479G>A284119CAVIN1Uncertain significancers372899540RCV000404261; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055522640555226CTNC_000017.10:g.40555226C>TClinGen:CA10645676C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1446G>C284119CAVIN1Likely benignrs4796583RCV000284013; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055525940555259CGNC_000017.10:g.40555259C>GClinGen:CA10639675C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1313G>T284119CAVIN1Uncertain significancers2085423533RCV001128486; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055539240555392CA17:g.40555392C>A-
NM_012232.6(CAVIN1):c.*1232G>A284119CAVIN1Uncertain significancers886052947RCV000339019; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055547340555473CTNC_000017.10:g.40555473C>TClinGen:CA10650145C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1214G>A284119CAVIN1Uncertain significancers550372098RCV001128487; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055549140555491CT17:g.40555491C>T-
NM_012232.6(CAVIN1):c.*1201T>G284119CAVIN1Uncertain significancers2085424170RCV001128488; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055550440555504AC17:g.40555504A>C-
NM_012232.6(CAVIN1):c.*1185T>C284119CAVIN1Uncertain significancers886052948RCV000397187; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055552040555520AGNC_000017.10:g.40555520A>GClinGen:CA10639681C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1110C>T284119CAVIN1Uncertain significancers776275443RCV001128489; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055559540555595GA17:g.40555595G>A-
NM_012232.6(CAVIN1):c.*999C>T284119CAVIN1Uncertain significancers759379641RCV001128490; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055570640555706GA17:g.40555706G>A-
NM_012232.6(CAVIN1):c.*998G>A284119CAVIN1Benignrs35725766RCV001122787; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055570740555707CT17:g.40555707C>T-
NM_012232.6(CAVIN1):c.*906G>A284119CAVIN1Benignrs1129422RCV000308763; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055579940555799CTNC_000017.10:g.40555799C>TClinGen:CA10650148C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*839G>A284119CAVIN1Likely benignrs181876690RCV001122788; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055586640555866CT17:g.40555866C>T-
NM_012232.6(CAVIN1):c.*815A>G284119CAVIN1Benignrs6416922RCV000363489; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055589040555890TCNC_000017.10:g.40555890T>CClinGen:CA10649268C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*810C>T284119CAVIN1Uncertain significancers558718636RCV001122789; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055589540555895GA17:g.40555895G>A-
NM_012232.6(CAVIN1):c.*766T>A284119CAVIN1Benignrs709631RCV000397185; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055593940555939ATNC_000017.10:g.40555939A>TClinGen:CA10639682C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*703T>A284119CAVIN1Likely benignrs79683345RCV000314100; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055600240556002ATNC_000017.10:g.40556002A>TClinGen:CA10650149C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*697A>C284119CAVIN1Uncertain significancers867384678RCV001123887; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055600840556008TG17:g.40556008T>G-
NM_012232.6(CAVIN1):c.*522G>A284119CAVIN1Uncertain significancers534002973RCV000371024; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055618340556183CTNC_000017.10:g.40556183C>TClinGen:CA10645677C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*462C>T284119CAVIN1Benignrs111860392RCV001123888; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055624340556243GA17:g.40556243G>A-
NM_012232.6(CAVIN1):c.*458C>T284119CAVIN1Benignrs6416923RCV000274085; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055624740556247GANC_000017.10:g.40556247G>AClinGen:CA10645679C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*363C>T284119CAVIN1Benignrs75155493RCV000331515; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055634240556342GANC_000017.10:g.40556342G>AClinGen:CA10649269C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*347C>A284119CAVIN1Likely benignrs7220527RCV000355847; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055635840556358GTNC_000017.10:g.40556358G>TClinGen:CA10639684C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*195C>G284119CAVIN1Uncertain significancers143895719RCV000263356; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055651040556510GCNC_000017.10:g.40556510G>CClinGen:CA10639686C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*190A>G284119CAVIN1Benignrs7207285RCV000316293|RCV001653578; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429|MedGen:CN517202174055651540556515TC17:g.40556515T>CClinGen:CA10649270C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*158A>T284119CAVIN1Uncertain significancers144298843RCV001126526; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055654740556547TA17:g.40556547T>A-
NM_012232.6(CAVIN1):c.*143C>G284119CAVIN1Uncertain significancers148241491RCV000373231; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055656240556562GCNC_000017.10:g.40556562G>CClinGen:CA10649272C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*104C>T284119CAVIN1Likely benignrs532604033RCV001126527; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055660140556601GA17:g.40556601G>A-
NM_012232.6(CAVIN1):c.*31C>G284119CAVIN1Uncertain significancers775795568RCV001126528; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055667440556674GC17:g.40556674G>C-
NM_012232.6(CAVIN1):c.*10G>A284119CAVIN1Conflicting interpretations of pathogenicityrs200409122RCV000175849|RCV001126529; NMedGen:CN517202|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055669540556695CT17:g.40556695C>TClinGen:CA241647CN169374 not specified;
NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=)284119CAVIN1Uncertain significancers374317281RCV000285549; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055682540556825GANC_000017.10:g.40556825G>AClinGen:CA10639689C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)284119CAVIN1Benignrs112332573RCV000118084|RCV000324266|RCV000965383; NMedGen:CN169374|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429|MedGen:CN517202174055695140556951CTNC_000017.10:g.40556951C>TClinGen:CA154819C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)284119CAVIN1Conflicting interpretations of pathogenicityrs146799286RCV000195159|RCV000376561|RCV000725971|RCV001174430; NMedGen:CN169374|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429|MedGen:CN517202|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625174055695540556955TC17:g.40556955T>CClinGen:CA209797C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly)284119CAVIN1Uncertain significancers146596349RCV001128588; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055701940557019GC17:g.40557019G>C-
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)284119CAVIN1Benign/Likely benignrs35648297RCV000118083|RCV000284193|RCV000965384; NMedGen:CN169374|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429|MedGen:CN517202174055703540557035CTNC_000017.10:g.40557035C>TClinGen:CA154817C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg)284119CAVIN1Uncertain significancers772598451RCV000346427; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055704240557042GCNC_000017.10:g.40557042G>CClinGen:CA8575794C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)284119CAVIN1Pathogenicrs1427062799RCV000006980; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055718140557182TTG17:g.40557181_40557182insGOMIM:603198.0001C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp)284119CAVIN1Uncertain significancers747339228RCV001128589; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055719940557199GA17:g.40557199G>A-
NM_012232.6(CAVIN1):c.576C>G (p.Pro192=)284119CAVIN1Uncertain significancers559527150RCV001128590; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055730240557302GC17:g.40557302G>C-
NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)284119CAVIN1Likely pathogenicrs199720089RCV001261601; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055732840557328CA17:g.40557328C>A-
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)284119CAVIN1Conflicting interpretations of pathogenicityrs143511306RCV000500363|RCV000972601|RCV001122896; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055733840557338CTNC_000017.10:g.40557338C>TClinGen:CA8575844CN169374 not specified;
NM_012232.6(CAVIN1):c.526del (p.Glu176fs)284119CAVIN1Pathogenicrs1567776490RCV000006981; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055735240557352TCT17:g.40557352_40557352delOMIM:603198.0002C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)284119CAVIN1Pathogenicrs1207466199RCV000023264; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055735740557360CTCTTC17:g.40557357_40557360delOMIM:603198.0007C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val)284119CAVIN1Uncertain significancers200954375RCV001122897; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055736440557364GC17:g.40557364G>C-
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)284119CAVIN1Pathogenicrs1567776514RCV000023263; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174055739640557397TTTCACNC_000017.10:g.40557398_40557401dupOMIM:603198.0006C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.471+1G>T284119CAVIN1Pathogenicrs866504928RCV000023265; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057464440574644CANC_000017.10:g.40574644C>AOMIM:603198.0008C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=)284119CAVIN1Uncertain significancers2085559084RCV001122898; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057464840574648GA17:g.40574648G>A-
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)284119CAVIN1Conflicting interpretations of pathogenicityrs148239625RCV000404894|RCV001174431|RCV001311888; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625|MedGen:CN517202174057465440574654CGNC_000017.10:g.40574654C>GClinGen:CA8575871C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.462del (p.Met154fs)284119CAVIN1Likely pathogenic-1RCV001782690; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057465440574654TCT40574653-
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)284119CAVIN1Pathogenicrs1489315815RCV000006983; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057475340574754CCA17:g.40574753_40574754insAOMIM:603198.0004C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)284119CAVIN1Conflicting interpretations of pathogenicityrs146547678RCV000487759|RCV001122899; NMedGen:CN517202|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057476040574760AT17:g.40574760A>TClinGen:CA238881CN517202 not provided;
NM_012232.6(CAVIN1):c.232C>A (p.Arg78=)284119CAVIN1Uncertain significancers750373957RCV001122900; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057488440574884GT17:g.40574884G>T-
NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly)284119CAVIN1Uncertain significancers2085564424RCV001122901; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057491940574919TC17:g.40574919T>C-
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)284119CAVIN1Conflicting interpretations of pathogenicityrs139531639RCV000173424|RCV000287886; NMedGen:CN517202|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057494840574948GT17:g.40574948G>TClinGen:CA238877C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.160del (p.Val54fs)284119CAVIN1Pathogenicrs1567782465RCV000006982; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057495640574956ACANC_000017.10:g.40574957delOMIM:603198.0003
NM_012232.6(CAVIN1):c.135del (p.Lys45fs)284119CAVIN1Pathogenicrs1567782493RCV000023262; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057498140574981ACA17:g.40574981_40574981delOMIM:603198.0005C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.12C>T (p.Pro4=)284119CAVIN1Uncertain significancers780083218RCV001123967; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057510440575104GA17:g.40575104G>A-
NM_012232.6(CAVIN1):c.-50C>T284119CAVIN1Uncertain significancers548579969RCV000345208; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057516540575165GANC_000017.10:g.40575165G>AClinGen:CA8575969C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.-133C>G284119CAVIN1Likely benignrs538472626RCV001123968; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057524840575248GC17:g.40575248G>C-
NM_012232.6(CAVIN1):c.-143C>G284119CAVIN1Uncertain significancers886052949RCV000405357; NMONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429174057525840575258GCNC_000017.10:g.40575258G>CClinGen:CA10639691C0271694 Familial partial lipodystrophy;
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