MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Lipodystrophy (D008060)
..Starting node ..Lipodystrophy, Congenital Generalized (D052497)
Child 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)
Sister Nodes:
..ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
..HIV-Associated Lipodystrophy Syndrome (D039682)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules (C535905)
..Lipodystrophy, Congenital Generalized (D052497) 3
..Lipodystrophy, Familial Partial (D052496) 1
..Lipodystrophy, Partial, Acquired (C562448)
..MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
..Mandibuloacral dysplasia with type A lipodystrophy (C535705)
..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
..MARFAN LIPODYSTROPHY SYNDROME (OMIM:616914)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 (OMIM:256040)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: AGPAT2; BSCL2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0005616	Accelerated skeletal maturation
4	HP:0001735	Acute pancreatitis
5	HP:0001638	Cardiomyopathy	HP:0040283
6	HP:0001394	Cirrhosis NAMDC: Cirrhosis
7	HP:0008665	Clitoral hypertrophy
8	HP:0002833	Cystic angiomatosis of bone
9	HP:0000868	Decreased fertility in females
10	HP:0003292	Decreased serum leptin
11	HP:0002910	Elevated hepatic transaminases
12	HP:0003716	Generalized muscular appearance from birth
13	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
14	HP:0002240	Hepatomegaly
15	HP:0001425	Heterogeneous
16	HP:0001007	Hirsutism
17	HP:0000842	Hyperinsulinemia
18	HP:0002155	Hypertriglyceridemia
19	HP:0000877	Insulin-resistant diabetes mellitus at puberty
20	HP:0000065	Labial hypertrophy
21	HP:0001176	Large hands
22	HP:0009125	Lipodystrophy
23	HP:0001833	Long foot
24	HP:0000400	Macrotia
25	HP:0000303	Mandibular prognathia
26	HP:0000787	Nephrolithiasis
27	HP:0000147	Polycystic ovaries
28	HP:0002591	Polyphagia
29	HP:0001544	Prominent umbilicus
30	HP:0003809	Reduced intrathoracic adipose tissue
31	HP:0001744	Splenomegaly
32	HP:0000098	Tall stature
33	HP:0000325	Triangular face
34	HP:0001537	Umbilical hernia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_006412.4(AGPAT2):c.*572C>T	10555	AGPAT2	Uncertain significance	-1	RCV001169432;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567632	139567632	G	A	9:g.139567632G>A	-
NM_006412.4(AGPAT2):c.*535C>T	10555	AGPAT2	Benign	rs138670030	RCV000352516;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567669	139567669	G	A	9:g.139567669G>A	ClinGen:CA10626913
NM_006412.4(AGPAT2):c.*517C>T	10555	AGPAT2	Benign	rs10320	RCV000406791;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567687	139567687	G	A	9:g.139567687G>A	ClinGen:CA10633280
NM_006412.4(AGPAT2):c.*514A>C	10555	AGPAT2	Uncertain significance	rs886063717	RCV000312862;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567690	139567690	T	G	9:g.139567690T>G	ClinGen:CA10633281
NM_006412.4(AGPAT2):c.*512G>A	10555	AGPAT2	Uncertain significance	rs555467686	RCV000365074;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567692	139567692	C	T	9:g.139567692C>T	ClinGen:CA10633287
NM_006412.4(AGPAT2):c.*510C>T	10555	AGPAT2	Likely benign	-1	RCV001166489;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567694	139567694	G	A	9:g.139567694G>A	-
NM_006412.4(AGPAT2):c.*488C>T	10555	AGPAT2	Uncertain significance	-1	RCV001166490;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567716	139567716	G	A	9:g.139567716G>A	-
NM_006412.4(AGPAT2):c.*442C>G	10555	AGPAT2	Benign	rs6951	RCV000272757;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567762	139567762	G	C	9:g.139567762G>C	ClinGen:CA10626914
NM_006412.4(AGPAT2):c.*418G>A	10555	AGPAT2	Uncertain significance	rs886063718	RCV000306946;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567786	139567786	C	T	9:g.139567786C>T	ClinGen:CA10626915
NM_006412.4(AGPAT2):c.*411C>T	10555	AGPAT2	Uncertain significance	-1	RCV001167015;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567793	139567793	G	A	9:g.139567793G>A	-
NM_006412.4(AGPAT2):c.*382C>T	10555	AGPAT2	Uncertain significance	-1	RCV001167016;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567822	139567822	G	A	9:g.139567822G>A	-
NM_006412.4(AGPAT2):c.*354C>T	10555	AGPAT2	Uncertain significance	rs886063719	RCV000363906;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567850	139567850	G	A	9:g.139567850G>A	ClinGen:CA10633019
NM_006412.4(AGPAT2):c.*277C>T	10555	AGPAT2	Uncertain significance	-1	RCV001167017;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567927	139567927	G	A	9:g.139567927G>A	-
NM_006412.4(AGPAT2):c.*239G>A	10555	AGPAT2	Benign	rs56310643	RCV000267311;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567965	139567965	C	T	9:g.139567965C>T	ClinGen:CA10626916
NM_006412.4(AGPAT2):c.*236C>T	10555	AGPAT2	Likely benign	-1	RCV001167018;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567968	139567968	G	A	9:g.139567968G>A	-
NM_006412.4(AGPAT2):c.*232C>T	10555	AGPAT2	Uncertain significance	-1	RCV001167019;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567972	139567972	G	A	9:g.139567972G>A	-
NM_006412.4(AGPAT2):c.*230C>T	10555	AGPAT2	Likely benign	rs190437134	RCV000324871;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567974	139567974	G	A	9:g.139567974G>A	ClinGen:CA10633288
NM_006412.4(AGPAT2):c.*217G>A	10555	AGPAT2	Uncertain significance	rs886063720	RCV000266024;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567987	139567987	C	T	9:g.139567987C>T	ClinGen:CA10626923
NM_006412.4(AGPAT2):c.*211G>A	10555	AGPAT2	Uncertain significance	-1	RCV001168727;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139567993	139567993	C	T	9:g.139567993C>T	-
NM_006412.4(AGPAT2):c.*201G>C	10555	AGPAT2	Uncertain significance	rs567964604	RCV000319061;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568003	139568003	C	G	9:g.139568003C>G	ClinGen:CA10629610
NM_006412.4(AGPAT2):c.*164C>A	10555	AGPAT2	Uncertain significance	rs777619886	RCV000375973;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568040	139568040	G	T	9:g.139568040G>T	ClinGen:CA10633022
NM_006412.4(AGPAT2):c.*157C>T	10555	AGPAT2	Benign	rs4880119	RCV000279085;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568047	139568047	G	A	9:g.139568047G>A	ClinGen:CA10629616
NM_006412.4(AGPAT2):c.*102C>T	10555	AGPAT2	Likely benign	-1	RCV001168728;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568102	139568102	G	A	9:g.139568102G>A	-
NM_006412.4(AGPAT2):c.*79C>G	10555	AGPAT2	Benign	rs112657922	RCV000336524;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568125	139568125	G	C	9:g.139568125G>C	ClinGen:CA10633292	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*48T>C	10555	AGPAT2	Likely benign	-1	RCV001169497;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568156	139568156	A	G	9:g.139568156A>G	-
NM_006412.4(AGPAT2):c.*45C>A	10555	AGPAT2	Uncertain significance	rs769602973	RCV000388892;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568159	139568159	G	T	9:g.139568159G>T	ClinGen:CA5342788	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.*34C>G	10555	AGPAT2	Uncertain significance	-1	RCV001169498;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568170	139568170	G	C	9:g.139568170G>C	-
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met)	10555	AGPAT2	Uncertain significance	rs368902934	RCV000292158;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568221	139568221	C	T	9:g.139568221C>T	ClinGen:CA5342803	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)	10555	AGPAT2	Uncertain significance	-1	RCV001169499;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568228	139568228	C	A	9:g.139568228C>A	-
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)	10555	AGPAT2	Conflicting interpretations of pathogenicity	rs142417583	RCV000445394\|RCV000965123\|RCV001169500;	N	MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625\|MedGen:CN517202\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568232	139568232	G	A	9:g.139568232G>A	ClinGen:CA5342808	C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)	10555	AGPAT2	Uncertain significance	-1	RCV001169501;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568253	139568253	G	A	9:g.139568253G>A	-
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)	10555	AGPAT2	Uncertain significance	-1	RCV001169502;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568255	139568255	G	A	9:g.139568255G>A	-
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=)	10555	AGPAT2	Uncertain significance	rs761143874	RCV000349526;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568258	139568258	C	T	9:g.139568258C>T	ClinGen:CA5342820	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)	10555	AGPAT2	Pathogenic	rs1057517656	RCV000412504;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568278	139568286	GTGGTCCTCA	G	9:g.139568278_139568286del	ClinGen:CA16042192
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=)	10555	AGPAT2	Conflicting interpretations of pathogenicity	rs146973799	RCV000882513\|RCV001165475;	N	MedGen:CN517202\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568279	139568279	G	A	9:g.139568279G>A	-
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)	10555	AGPAT2	Uncertain significance	-1	RCV001165476;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568292	139568292	C	T	9:g.139568292C>T	-
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)	10555	AGPAT2	Uncertain significance	rs767338891	RCV000390096;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568293	139568293	G	A	9:g.139568293G>A	ClinGen:CA5342830	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)	10555	AGPAT2	Benign	rs117434864	RCV000910591\|RCV001165477;	N	MedGen:CN517202\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568300	139568300	G	A	9:g.139568300G>A	-
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)	10555	AGPAT2	Uncertain significance	rs200288462	RCV000291123;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568309	139568309	G	A	9:g.139568309G>A	ClinGen:CA5342834	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=)	10555	AGPAT2	Uncertain significance	rs142207711	RCV000343775;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568321	139568321	G	A	9:g.139568321G>A	ClinGen:CA5342842	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)	10555	AGPAT2	Benign/Likely benign	rs145975461	RCV000594308\|RCV001165478;	N	MedGen:CN169374\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568325	139568325	G	A	9:g.139568325G>A	ClinGen:CA5342845	CN169374 not specified;
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)	10555	AGPAT2	Pathogenic	rs200656731	RCV000412633;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568328	139568328	G	C	9:g.139568328G>C	ClinGen:CA5342848
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=)	10555	AGPAT2	Benign	rs116951119	RCV000116252\|RCV001167073;	N	MedGen:CN169374\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568339	139568339	G	A	9:g.139568339G>A	ClinGen:CA151608	CN169374 not specified;
NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn)	10555	AGPAT2	Uncertain significance	rs536777709	RCV000788112;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568343	139568343	G	T	9:g.139568343G>T	-
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)	10555	AGPAT2	Pathogenic	rs104894100	RCV000007006;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568358	139568358	A	G	9:g.139568358A>G	OMIM:603100.0004,ClinGen:CA277946,UniProtKB:O15120#VAR_017327	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)	10555	AGPAT2	Pathogenic	rs1057517655	RCV000412578;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568365	139568365	G	A	9:g.139568365G>A	ClinGen:CA16042193	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.662-5C>G	10555	AGPAT2	Likely benign	rs199964729	RCV000390445;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139568384	139568384	G	C	9:g.139568384G>C	ClinGen:CA5342859
NM_006412.4(AGPAT2):c.661+2T>G	10555	AGPAT2	Pathogenic	rs1057517654	RCV000412521;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139569185	139569185	A	C	9:g.139569185A>C	ClinGen:CA16042194
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)	10555	AGPAT2	Uncertain significance	-1	RCV001167074;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139569201	139569201	T	A	9:g.139569201T>A	-
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	10555	AGPAT2	Conflicting interpretations of pathogenicity	rs138994150	RCV000412630\|RCV000880987;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139569202	139569202	T	A	9:g.139569202T>A	ClinGen:CA5342894
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)	10555	AGPAT2	Pathogenic	rs121908925	RCV000007008;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139569205	139569205	T	A	9:g.139569205T>A	ClinGen:CA277949,OMIM:603100.0006	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)	10555	AGPAT2	Pathogenic	rs1564290079	RCV000754915;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139569222	139569226	GGAGGA	G	9:g.139569222_139569226del	-
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)	10555	AGPAT2	Uncertain significance	rs372408400	RCV000358360;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139569244	139569244	C	T	9:g.139569244C>T	ClinGen:CA5342909
NM_006412.4(AGPAT2):c.589-2A>G	10555	AGPAT2	Pathogenic	rs116807569	RCV000007004;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139569261	139569261	T	C	9:g.139569261T>C	OMIM:603100.0002,ClinGen:CA277944
NM_006412.4(AGPAT2):c.366_588+534del	10555	AGPAT2	Pathogenic	-1	RCV000007011;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139570503	139571539	ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGC	A	9:g.139570503_139570601del	dbVar:nssv3761633,OMIM:603100.0009,ClinGen:CA277954	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)	10555	AGPAT2	Pathogenic	rs121908926	RCV000007010;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571055	139571055	G	T	9:g.139571055G>T	ClinGen:CA277952,OMIM:603100.0008	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.538del (p.Asp180fs)	10555	AGPAT2	Pathogenic	rs1057517653	RCV000412491;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571087	139571087	TC	T	9:g.139571087_139571087del	ClinGen:CA16042195
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	10555	AGPAT2	Likely pathogenic	rs748157664	RCV000412645\|RCV000494007;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139571111	139571111	C	T	9:g.139571111C>T	ClinGen:CA5342949
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)	10555	AGPAT2	Pathogenic	rs1564290914	RCV000754914;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571112	139571112	CG	C	9:g.139571112_139571112del	-
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)	10555	AGPAT2	Pathogenic	rs1057518714	RCV000414972;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571122	139571122	C	T	9:g.139571122C>T	ClinGen:CA16043672
NM_006412.4(AGPAT2):c.493-1G>C	10555	AGPAT2	Pathogenic	rs606231168	RCV000007009;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571133	139571133	C	G	9:g.139571133C>G	ClinGen:CA277951,OMIM:603100.0007
NM_006412.4(AGPAT2):c.493-7C>T	10555	AGPAT2	Uncertain significance	-1	RCV001167075;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571139	139571139	G	A	9:g.139571139G>A	-
NM_006412.4(AGPAT2):c.492+4_492+7del	10555	AGPAT2	Uncertain significance	rs1057518715	RCV000414842;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571406	139571409	ACACT	A	9:g.139571406_139571409del	ClinGen:CA16043673	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.492+1G>A	10555	AGPAT2	Pathogenic	rs933422777	RCV000412609;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571412	139571412	C	T	9:g.139571412C>T	ClinGen:CA16042196
NM_006412.4(AGPAT2):c.483C>T (p.Val161=)	10555	AGPAT2	Uncertain significance	rs370441324	RCV000304647;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571422	139571422	G	A	9:g.139571422G>A	ClinGen:CA5342991
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)	10555	AGPAT2	Uncertain significance	rs374919945	RCV000354825;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571429	139571429	C	A	9:g.139571429C>A	ClinGen:CA5342995
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)	10555	AGPAT2	Benign	rs142993240	RCV000193694\|RCV000445508\|RCV000883942\|RCV001167076;	N	MedGen:CN169374\|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625\|MedGen:CN517202\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571430	139571430	G	A	9:g.139571430G>A	ClinGen:CA207355
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=)	10555	AGPAT2	Uncertain significance	rs886063721	RCV000259829;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571452	139571452	T	C	9:g.139571452T>C	ClinGen:CA10633295
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del)	10555	AGPAT2	Pathogenic	rs387906356	RCV000007007;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571485	139571487	TGAA	T	9:g.139571485_139571487del	ClinGen:CA277947,OMIM:603100.0005	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)	10555	AGPAT2	Uncertain significance	-1	RCV001167653;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571490	139571490	A	C	9:g.139571490A>C	-
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)	10555	AGPAT2	Pathogenic	rs797045222	RCV000193026;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571499	139571499	C	T	9:g.139571499C>T	ClinGen:CA278000,UniProtKB:O15120#VAR_017328
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)	10555	AGPAT2	Uncertain significance	-1	RCV001167654;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571508	139571508	T	C	9:g.139571508T>C	-
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	10555	AGPAT2	Pathogenic	rs387906355	RCV000007005;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571527	139571528	C	CA	9:g.139571527_139571528insA	ClinGen:CA277945,OMIM:603100.0003	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)	10555	AGPAT2	Uncertain significance	-1	RCV001167655;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571544	139571544	G	C	9:g.139571544G>C	-
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)	10555	AGPAT2	Benign/Likely benign	rs73668354	RCV000244821\|RCV000319659\|RCV000967144;	N	MedGen:CN169374\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139571560	139571560	G	A	9:g.139571560G>A	ClinGen:CA5343040	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)	10555	AGPAT2	Uncertain significance	rs886063722	RCV000412550;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571570	139571570	G	A	9:g.139571570G>A	ClinGen:CA10633299
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)	10555	AGPAT2	Likely pathogenic	rs1588263957	RCV000985088;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571570	139571570	CG	C	9:g.139571570_139571570del	-
NM_006412.4(AGPAT2):c.317-7C>T	10555	AGPAT2	Benign	rs74584184	RCV000116250\|RCV000275200\|RCV000947220;	N	MedGen:CN169374\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139571595	139571595	G	A	9:g.139571595G>A	ClinGen:CA151607	C0221032 Congenital generalized lipodystrophy;
NM_006412.4(AGPAT2):c.316+15G>A	10555	AGPAT2	Uncertain significance	rs531012485	RCV000330045;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571860	139571860	C	T	9:g.139571860C>T	ClinGen:CA5343078
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)	10555	AGPAT2	Conflicting interpretations of pathogenicity	rs746809573	RCV000389300\|RCV000418715;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139571876	139571876	C	A	9:g.139571876C>A	ClinGen:CA5343082
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)	10555	AGPAT2	Pathogenic	rs764260414	RCV000412496;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571892	139571892	C	T	9:g.139571892C>T	ClinGen:CA5343086
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)	10555	AGPAT2	Uncertain significance	-1	RCV001169546;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571909	139571909	G	A	9:g.139571909G>A	-
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)	10555	AGPAT2	Uncertain significance	rs142176861	RCV000277912\|RCV001169547;	N	MedGen:CN517202\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571922	139571922	C	T	9:g.139571922C>T	ClinGen:CA5343091	CN169374 not specified;
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=)	10555	AGPAT2	Uncertain significance	rs543374987	RCV000294844;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571957	139571957	G	A	9:g.139571957G>A	ClinGen:CA5343100
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	10555	AGPAT2	Pathogenic	rs104894093	RCV000007003;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571989	139571989	G	A	9:g.139571989G>A	ClinGen:CA277942,OMIM:603100.0001	C1720862 608594 Congenital generalized lipodystrophy type 1;
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)	10555	AGPAT2	Conflicting interpretations of pathogenicity	rs563539429	RCV000445545\|RCV001169548;	N	MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625\|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571992	139571992	C	T	9:g.139571992C>T	ClinGen:CA5343113	C3888631 Monogenic diabetes;
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)	10555	AGPAT2	Pathogenic	rs1057517651	RCV000412547;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139571997	139571997	C	T	9:g.139571997C>T	ClinGen:CA16042197
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)	10555	AGPAT2	Benign/Likely benign	rs150180733	RCV000326364\|RCV000909739;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139572002	139572002	G	A	9:g.139572002G>A	ClinGen:CA5343118
NM_006412.4(AGPAT2):c.183-2A>G	10555	AGPAT2	Pathogenic	rs1057517649	RCV000412588;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139572010	139572010	T	C	9:g.139572010T>C	ClinGen:CA16042198
NM_006412.4(AGPAT2):c.182+8C>T	10555	AGPAT2	Benign/Likely benign	rs199860398	RCV000381250\|RCV000882452;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139581620	139581620	G	A	9:g.139581620G>A	ClinGen:CA5343148
NM_006412.4(AGPAT2):c.182+6G>A	10555	AGPAT2	Benign/Likely benign	rs373540283	RCV000291539\|RCV000885393;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528\|MedGen:CN517202	9	139581622	139581622	C	T	9:g.139581622C>T	ClinGen:CA5343149
NM_006412.4(AGPAT2):c.182+1G>A	10555	AGPAT2	Pathogenic	rs1057517650	RCV000412655;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581627	139581627	C	T	9:g.139581627C>T	ClinGen:CA16042199
NM_006412.4(AGPAT2):c.54G>A (p.Val18=)	10555	AGPAT2	Uncertain significance	-1	RCV001169549;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581756	139581756	C	T	9:g.139581756C>T	-
NM_006412.4(AGPAT2):c.-4G>C	10555	AGPAT2	Uncertain significance	rs886063724	RCV000282778;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581813	139581813	C	G	9:g.139581813C>G	ClinGen:CA10633063
NM_006412.4(AGPAT2):c.-18C>A	10555	AGPAT2	Uncertain significance	-1	RCV001165541;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581827	139581827	G	T	9:g.139581827G>T	-
NM_006412.4(AGPAT2):c.-19T>C	10555	AGPAT2	Uncertain significance	-1	RCV001165542;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581828	139581828	A	G	9:g.139581828A>G	-
NM_006412.4(AGPAT2):c.-61G>C	10555	AGPAT2	Uncertain significance	rs886063725	RCV000398551;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581870	139581870	C	G	9:g.139581870C>G	ClinGen:CA10626930
NM_006412.4(AGPAT2):c.-62G>A	10555	AGPAT2	Uncertain significance	rs566958496	RCV000298125;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581871	139581871	C	T	9:g.139581871C>T	ClinGen:CA10626934
NM_006412.4(AGPAT2):c.-67G>C	10555	AGPAT2	Benign	rs146341067	RCV000353053;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581876	139581876	C	G	9:g.139581876C>G	ClinGen:CA10626936
NM_006412.4(AGPAT2):c.-68C>G	10555	AGPAT2	Uncertain significance	rs886063726	RCV000392835;	N	MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594, Orphanet:528	9	139581877	139581877	G	C	9:g.139581877G>C	ClinGen:CA10629635

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