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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Lipodystrophy, Congenital Generalized (D052497)
..Starting node ..Lipodystrophy, Congenital Generalized, Type 4 (C567642)
Child Nodes:
Sister Nodes:
..Lipodystrophy, Congenital Generalized, Type 3 (C567282)
..Lipodystrophy, Congenital Generalized, Type 4 (C567642)
..Lipodystrophy, 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 :
Genes: PTRF;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000956	Acanthosis nigricans
4	HP:0005110	Atrial fibrillation
5	HP:0001662	Bradycardia
6	HP:0002019	Constipation
7	HP:0002015	Dysphagia NAMDC: Dysphagia
8	HP:0002910	Elevated hepatic transaminases
9	HP:0003236	Elevated serum creatine phosphokinase
10	HP:0003546	Exercise intolerance NAMDC: Exercise intolerance
11	HP:0001508	Failure to thrive
12	HP:0011968	Feeding difficulties
13	HP:0001371	Flexion contracture
14	HP:0003324	Generalized muscle weakness
15	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
16	HP:0002240	Hepatomegaly
17	HP:0001007	Hirsutism	HP:0040283
18	HP:0000842	Hyperinsulinemia
19	HP:0003307	Hyperlordosis
20	HP:0002155	Hypertriglyceridemia
21	HP:0002720	IgA deficiency
22	HP:0002595	Ileus
23	HP:0000855	Insulin resistance
24	HP:0009125	Lipodystrophy
25	HP:0003719	Muscle mounding
26	HP:0003552	Muscle stiffness
27	HP:0003560	Muscular dystrophy NAMDC: Likely HP:0003560 Muscular dystrophy
28	HP:0003326	Myalgia
29	HP:0000938	Osteopenia
30	HP:0000939	Osteoporosis
31	HP:0001657	Prolonged QT interval
32	HP:0001544	Prominent umbilicus
33	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
34	HP:0002021	Pyloric stenosis
35	HP:0002719	Recurrent infections
36	HP:0002650	Scoliosis
37	HP:0003712	Skeletal muscle hypertrophy
38	HP:0003306	Spinal rigidity
39	HP:0001744	Splenomegaly
40	HP:0001649	Tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_012232.6(CAVIN1):c.*2211G>A	284119	CAVIN1	Likely benign	rs74685015	RCV000381746;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554494	40554494	17:g.40554494C>T	ClinGen:CA10639669	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*2115G>T	284119	CAVIN1	Uncertain significance	rs113990379	RCV001122681;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554590	40554590	17:g.40554590C>A	-
NM_012232.6(CAVIN1):c.*2048T>C	284119	CAVIN1	Likely benign	rs115889684	RCV000277969;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554657	40554657	17:g.40554657A>G	ClinGen:CA10649264	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1990A>C	284119	CAVIN1	Uncertain significance	rs886052946	RCV000333033;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554715	40554715	17:g.40554715T>G	ClinGen:CA10645671	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1955T>C	284119	CAVIN1	Uncertain significance	rs1266465226	RCV001123785;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554750	40554750	17:g.40554750A>G	-
NM_012232.6(CAVIN1):c.*1912C>T	284119	CAVIN1	Likely benign	rs12892	RCV001123786;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554793	40554793	17:g.40554793G>A	-
NM_012232.6(CAVIN1):c.*1895C>G	284119	CAVIN1	Uncertain significance	rs1240074915	RCV001123787;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554810	40554810	17:g.40554810G>C	-
NM_012232.6(CAVIN1):c.*1856C>T	284119	CAVIN1	Likely benign	rs9252	RCV000387587;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554849	40554849	17:g.40554849G>A	ClinGen:CA10639671	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1788C>G	284119	CAVIN1	Likely benign	rs11546699	RCV000293275;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554917	40554917	17:g.40554917G>C	ClinGen:CA10650143	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1749T>C	284119	CAVIN1	Benign	rs7212299	RCV000338867;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40554956	40554956	17:g.40554956A>G	ClinGen:CA10650144	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1704C>G	284119	CAVIN1	Benign	rs7210713	RCV000374775;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555001	40555001	NC_000017.10:g.40555001G>C	ClinGen:CA10649265	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1591T>G	284119	CAVIN1	Benign	rs4796582	RCV000280273;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555114	40555114	NC_000017.10:g.40555114A>C	ClinGen:CA10649266	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1549C>T	284119	CAVIN1	Uncertain significance	rs781740643	RCV001126435;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555156	40555156	17:g.40555156G>A	-
NM_012232.6(CAVIN1):c.*1508G>A	284119	CAVIN1	Likely benign	rs117596331	RCV000342466;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555197	40555197	NC_000017.10:g.40555197C>T	ClinGen:CA10639674	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1479G>A	284119	CAVIN1	Uncertain significance	rs372899540	RCV000404261;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555226	40555226	NC_000017.10:g.40555226C>T	ClinGen:CA10645676	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1446G>C	284119	CAVIN1	Likely benign	rs4796583	RCV000284013;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555259	40555259	NC_000017.10:g.40555259C>G	ClinGen:CA10639675	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1313G>T	284119	CAVIN1	Uncertain significance	rs2085423533	RCV001128486;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555392	40555392	17:g.40555392C>A	-
NM_012232.6(CAVIN1):c.*1232G>A	284119	CAVIN1	Uncertain significance	rs886052947	RCV000339019;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555473	40555473	NC_000017.10:g.40555473C>T	ClinGen:CA10650145	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1214G>A	284119	CAVIN1	Uncertain significance	rs550372098	RCV001128487;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555491	40555491	17:g.40555491C>T	-
NM_012232.6(CAVIN1):c.*1201T>G	284119	CAVIN1	Uncertain significance	rs2085424170	RCV001128488;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555504	40555504	17:g.40555504A>C	-
NM_012232.6(CAVIN1):c.*1185T>C	284119	CAVIN1	Uncertain significance	rs886052948	RCV000397187;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555520	40555520	NC_000017.10:g.40555520A>G	ClinGen:CA10639681	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*1110C>T	284119	CAVIN1	Uncertain significance	rs776275443	RCV001128489;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555595	40555595	17:g.40555595G>A	-
NM_012232.6(CAVIN1):c.*999C>T	284119	CAVIN1	Uncertain significance	rs759379641	RCV001128490;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555706	40555706	17:g.40555706G>A	-
NM_012232.6(CAVIN1):c.*998G>A	284119	CAVIN1	Benign	rs35725766	RCV001122787;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555707	40555707	17:g.40555707C>T	-
NM_012232.6(CAVIN1):c.*906G>A	284119	CAVIN1	Benign	rs1129422	RCV000308763;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555799	40555799	NC_000017.10:g.40555799C>T	ClinGen:CA10650148	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*839G>A	284119	CAVIN1	Likely benign	rs181876690	RCV001122788;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555866	40555866	17:g.40555866C>T	-
NM_012232.6(CAVIN1):c.*815A>G	284119	CAVIN1	Benign	rs6416922	RCV000363489;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555890	40555890	NC_000017.10:g.40555890T>C	ClinGen:CA10649268	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*810C>T	284119	CAVIN1	Uncertain significance	rs558718636	RCV001122789;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555895	40555895	17:g.40555895G>A	-
NM_012232.6(CAVIN1):c.*766T>A	284119	CAVIN1	Benign	rs709631	RCV000397185;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40555939	40555939	NC_000017.10:g.40555939A>T	ClinGen:CA10639682	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*703T>A	284119	CAVIN1	Likely benign	rs79683345	RCV000314100;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556002	40556002	NC_000017.10:g.40556002A>T	ClinGen:CA10650149	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*697A>C	284119	CAVIN1	Uncertain significance	rs867384678	RCV001123887;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556008	40556008	17:g.40556008T>G	-
NM_012232.6(CAVIN1):c.*522G>A	284119	CAVIN1	Uncertain significance	rs534002973	RCV000371024;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556183	40556183	NC_000017.10:g.40556183C>T	ClinGen:CA10645677	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*462C>T	284119	CAVIN1	Benign	rs111860392	RCV001123888;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556243	40556243	17:g.40556243G>A	-
NM_012232.6(CAVIN1):c.*458C>T	284119	CAVIN1	Benign	rs6416923	RCV000274085;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556247	40556247	NC_000017.10:g.40556247G>A	ClinGen:CA10645679	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*363C>T	284119	CAVIN1	Benign	rs75155493	RCV000331515;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556342	40556342	NC_000017.10:g.40556342G>A	ClinGen:CA10649269	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*347C>A	284119	CAVIN1	Likely benign	rs7220527	RCV000355847;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556358	40556358	NC_000017.10:g.40556358G>T	ClinGen:CA10639684	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*195C>G	284119	CAVIN1	Uncertain significance	rs143895719	RCV000263356;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556510	40556510	NC_000017.10:g.40556510G>C	ClinGen:CA10639686	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*190A>G	284119	CAVIN1	Benign	rs7207285	RCV000316293\|RCV001653578;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429\|MedGen:CN517202	17	40556515	40556515	17:g.40556515T>C	ClinGen:CA10649270	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*158A>T	284119	CAVIN1	Uncertain significance	rs144298843	RCV001126526;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556547	40556547	17:g.40556547T>A	-
NM_012232.6(CAVIN1):c.*143C>G	284119	CAVIN1	Uncertain significance	rs148241491	RCV000373231;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556562	40556562	NC_000017.10:g.40556562G>C	ClinGen:CA10649272	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.*104C>T	284119	CAVIN1	Likely benign	rs532604033	RCV001126527;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556601	40556601	17:g.40556601G>A	-
NM_012232.6(CAVIN1):c.*31C>G	284119	CAVIN1	Uncertain significance	rs775795568	RCV001126528;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556674	40556674	17:g.40556674G>C	-
NM_012232.6(CAVIN1):c.*10G>A	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs200409122	RCV000175849\|RCV001126529;	N	MedGen:CN517202\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556695	40556695	17:g.40556695C>T	ClinGen:CA241647	CN169374 not specified;
NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=)	284119	CAVIN1	Uncertain significance	rs374317281	RCV000285549;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556825	40556825	NC_000017.10:g.40556825G>A	ClinGen:CA10639689	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=)	284119	CAVIN1	Benign	rs112332573	RCV000118084\|RCV000324266\|RCV000965383;	N	MedGen:CN169374\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429\|MedGen:CN517202	17	40556951	40556951	NC_000017.10:g.40556951C>T	ClinGen:CA154819	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs146799286	RCV000195159\|RCV000376561\|RCV000725971\|RCV001174430;	N	MedGen:CN169374\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429\|MedGen:CN517202\|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625	17	40556955	40556955	17:g.40556955T>C	ClinGen:CA209797	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)	284119	CAVIN1	Uncertain significance	-1	RCV003144672;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556961	40556961	NC_000017.10:g.40556961A>G	-
NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)	284119	CAVIN1	Uncertain significance	-1	RCV003135168;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40556973	40556973	NC_000017.10:g.40556973G>A	-
NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly)	284119	CAVIN1	Uncertain significance	rs146596349	RCV001128588;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557019	40557019	17:g.40557019G>C	-
NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)	284119	CAVIN1	Uncertain significance	-1	RCV003144671;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557031	40557031	NC_000017.10:g.40557031G>A	-
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=)	284119	CAVIN1	Benign/Likely benign	rs35648297	RCV000118083\|RCV000284193\|RCV000965384;	N	MedGen:CN169374\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429\|MedGen:CN517202	17	40557035	40557035	NC_000017.10:g.40557035C>T	ClinGen:CA154817	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg)	284119	CAVIN1	Uncertain significance	rs772598451	RCV000346427;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557042	40557042	NC_000017.10:g.40557042G>C	ClinGen:CA8575794	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)	284119	CAVIN1	Uncertain significance	-1	RCV003135167;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557135	40557135	NC_000017.10:g.40557135G>C	-
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)	284119	CAVIN1	Pathogenic	rs1427062799	RCV000006980;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557181	40557182	17:g.40557181_40557182insG	OMIM:603198.0001	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp)	284119	CAVIN1	Uncertain significance	rs747339228	RCV001128589;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557199	40557199	17:g.40557199G>A	-
NM_012232.6(CAVIN1):c.576C>G (p.Pro192=)	284119	CAVIN1	Uncertain significance	rs559527150	RCV001128590;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557302	40557302	17:g.40557302G>C	-
NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)	284119	CAVIN1	Likely pathogenic	rs199720089	RCV001261601;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557328	40557328	17:g.40557328C>A	-
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs143511306	RCV000500363\|RCV000972601\|RCV001122896;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557338	40557338	NC_000017.10:g.40557338C>T	ClinGen:CA8575844	CN169374 not specified;
NM_012232.6(CAVIN1):c.526del (p.Glu176fs)	284119	CAVIN1	Pathogenic	rs1567776490	RCV000006981;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557352	40557352	17:g.40557352_40557352del	OMIM:603198.0002	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)	284119	CAVIN1	Pathogenic	rs1207466199	RCV000023264;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557357	40557360	17:g.40557357_40557360del	OMIM:603198.0007	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val)	284119	CAVIN1	Uncertain significance	rs200954375	RCV001122897;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557364	40557364	17:g.40557364G>C	-
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)	284119	CAVIN1	Pathogenic	rs1567776514	RCV000023263;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40557396	40557397	NC_000017.10:g.40557398_40557401dup	OMIM:603198.0006	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.471+1G>T	284119	CAVIN1	Pathogenic	rs866504928	RCV000023265;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574644	40574644	NC_000017.10:g.40574644C>A	OMIM:603198.0008	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=)	284119	CAVIN1	Uncertain significance	rs2085559084	RCV001122898;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574648	40574648	17:g.40574648G>A	-
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile)	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs148239625	RCV000404894\|RCV001174431\|RCV001311888;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429\|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625\|MedGen:CN517202	17	40574654	40574654	NC_000017.10:g.40574654C>G	ClinGen:CA8575871	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)	284119	CAVIN1	Pathogenic	rs1489315815	RCV000006983;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574753	40574754	17:g.40574753_40574754insA	OMIM:603198.0004	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs146547678	RCV000487759\|RCV001122899;	N	MedGen:CN517202\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574760	40574760	17:g.40574760A>T	ClinGen:CA238881	CN517202 not provided;
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)	284119	CAVIN1	Uncertain significance	-1	RCV003135166;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574860	40574860	NC_000017.10:g.40574860C>T	-
NM_012232.6(CAVIN1):c.232C>A (p.Arg78=)	284119	CAVIN1	Uncertain significance	rs750373957	RCV001122900;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574884	40574884	17:g.40574884G>T	-
NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly)	284119	CAVIN1	Uncertain significance	rs2085564424	RCV001122901;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574919	40574919	17:g.40574919T>C	-
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs139531639	RCV000173424\|RCV000287886;	N	MedGen:CN517202\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574948	40574948	17:g.40574948G>T	ClinGen:CA238877	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.160del (p.Val54fs)	284119	CAVIN1	Pathogenic	rs1567782465	RCV000006982;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574956	40574956	NC_000017.10:g.40574957del	OMIM:603198.0003
NM_012232.6(CAVIN1):c.135del (p.Lys45fs)	284119	CAVIN1	Pathogenic	rs1567782493	RCV000023262;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40574981	40574981	17:g.40574981_40574981del	OMIM:603198.0005	C2750069 613327 Lipodystrophy, congenital generalized, type 4;
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu)	284119	CAVIN1	Conflicting interpretations of pathogenicity	rs61729285	RCV000664149\|RCV000957608\|RCV003144466;	N	MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625\|MedGen:CN517202\|MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575051	40575051	17:g.40575051G>A	-	C3888631 Monogenic diabetes;
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)	284119	CAVIN1	Uncertain significance	-1	RCV003135165;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575054	40575054	NC_000017.10:g.40575054G>A	-
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)	284119	CAVIN1	Uncertain significance	-1	RCV003130359;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575088	40575088	NC_000017.10:g.40575088C>G	-
NM_012232.6(CAVIN1):c.12C>T (p.Pro4=)	284119	CAVIN1	Uncertain significance	rs780083218	RCV001123967;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575104	40575104	17:g.40575104G>A	-
NM_012232.6(CAVIN1):c.-50C>T	284119	CAVIN1	Uncertain significance	rs548579969	RCV000345208;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575165	40575165	NC_000017.10:g.40575165G>A	ClinGen:CA8575969	C0271694 Familial partial lipodystrophy;
NM_012232.6(CAVIN1):c.-133C>G	284119	CAVIN1	Likely benign	rs538472626	RCV001123968;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575248	40575248	17:g.40575248G>C	-
NM_012232.6(CAVIN1):c.-143C>G	284119	CAVIN1	Uncertain significance	rs886052949	RCV000405357;	N	MONDO:MONDO:0013225,MedGen:C2750069,OMIM:613327, Orphanet:228429	17	40575258	40575258	NC_000017.10:g.40575258G>C	ClinGen:CA10639691	C0271694 Familial partial lipodystrophy;

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