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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 (D008060)
..Starting node ..Lipodystrophy, Familial Partial (D052496)
Child Nodes:
........Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
........PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME (OMIM:606721)
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:

7090

Name:

Lipodystrophy, Familial Partial

Definition:

Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

Alternative IDs:

ParentIDs:

MESH:D008060

TreeNumbers:

C17.800.849.391.700 |C18.452.584.625.700 |C18.452.880.391.700

Synonyms:

Slim Mappings:

Metabolic disease|Skin disease

Reference:

MedGen: D052496
MeSH: D052496
OMIM: 151660;
MSeqDR :
Genes: CIDEC; LIPE; LMNA; PLIN1; PPARG; PPP1R3A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000956	Acanthosis nigricans
3	HP:0001735	Acute pancreatitis	HP:0040282
4	HP:0008887	Adipose tissue loss
5	HP:0002621	Atherosclerosis
6	HP:0003233	Decreased HDL cholesterol concentration
7	HP:0012645	Enlarged peripheral nerve
8	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
9	HP:0002240	Hepatomegaly
10	HP:0001007	Hirsutism
11	HP:0003074	Hyperglycemia
12	HP:0000842	Hyperinsulinemia
13	HP:0000822	Hypertension
14	HP:0002155	Hypertriglyceridemia
15	HP:0000468	Increased adipose tissue around the neck
16	HP:0000287	Increased facial adipose tissue
17	HP:0008993	Increased intraabdominal fat
18	HP:0008985	Increased intramuscular fat
19	HP:0000831	Insulin-resistant diabetes mellitus
20	HP:0008739	Labial pseudohypertrophy
21	HP:0009125	Lipodystrophy
22	HP:0003635	Loss of subcutaneous adipose tissue in limbs
23	HP:0009002	Loss of truncal subcutaneous adipose tissue
24	HP:0003326	Myalgia
25	HP:0000147	Polycystic ovaries
26	HP:0001015	Prominent superficial veins
27	HP:0003758	Reduced subcutaneous adipose tissue
28	HP:0000311	Round face
29	HP:0003712	Skeletal muscle hypertrophy
30	HP:0000991	Xanthomatosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_005572.3(LMNA):c.-226C>T	4000	LMNA	Uncertain significance	rs886045354	RCV000261321\|RCV000265425\|RCV000274059\|RCV000301121\|RCV000316510\|RCV000313835\|RCV000344641\|RCV000355952\|RCV000368648\|RCV000402614\|RCV001096027;	N	MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973\|	1	156084484	156084484	NC_000001.10:g.156084484C>T	ClinGen:CA10607970	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.-88G>T	4000	LMNA	Benign/Likely benign	rs115800510	RCV000293288\|RCV000304900\|RCV000282647\|RCV000335300\|RCV000365735\|RCV000350000\|RCV000374360\|RCV000390806\|RCV000391862\|RCV000406475\|RCV001101680\|RCV001651330\|RCV002465611;	N	MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856\|MedGen:CN239184\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,Or	1	156084622	156084622	NC_000001.10:g.156084622G>T	ClinGen:CA10608304	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)	4000	LMNA	Pathogenic/Likely pathogenic	rs57077886	RCV000015599\|RCV000057387\|RCV000502816\|RCV000622546\|RCV000755005;	N	MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MedGen:CN517202\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0009125,MONDO:MONDO:0006573,MedGen:C0023787	1	156084738	156084738	1:g.156084738C>T	ClinGen:CA017867,UniProtKB:P02545#VAR_039745,OMIM:150330.0029	C1449563 115200 Dilated cardiomyopathy 1A;
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)	4000	LMNA	Pathogenic	rs28928900	RCV000015567\|RCV000015566\|RCV000057359;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MedGen:CN517202	1	156084887	156084887	1:g.156084887C>G	ClinGen:CA017722,UniProtKB:P02545#VAR_034706,OMIM:150330.0005	C1449563 115200 Dilated cardiomyopathy 1A;
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	4000	LMNA	Pathogenic	rs56793579	RCV000057365\|RCV000503031\|RCV000780387\|RCV001051802;	N	MedGen:CN517202\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746	1	156084893	156084893	1:g.156084893C>G	ClinGen:CA017741,UniProtKB:P02545#VAR_039755	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.356+12C>A	4000	LMNA	Uncertain significance	rs1649747809	RCV001099887\|RCV001099888\|RCV001099883\|RCV001099885\|RCV001101875\|RCV001101876\|RCV001101877\|RCV001099884\|RCV001099886\|RCV001101874;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261\|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200,Orp	1	156085077	156085077	1:g.156085077C>A	-
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	4000	LMNA	Pathogenic	rs60864230	RCV000015577\|RCV000015578\|RCV001387326\|RCV000057399;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:C2750285\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN517202	1	156100449	156100449	1:g.156100449G>T	ClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027	C0007959 Charcot-Marie-Tooth disease;
NM_170707.4(LMNA):c.514-11C>T	4000	LMNA	Conflicting interpretations of pathogenicity	rs886045365	RCV000259634\|RCV000271579\|RCV000277232\|RCV000312526\|RCV000319234\|RCV000338954\|RCV000366122\|RCV000372986\|RCV000367228\|RCV000373949\|RCV000828218\|RCV001096563\|RCV002061154;	N	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MON	1	156104183	156104183	NC_000001.10:g.156104183C>T	ClinGen:CA10608308	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)	4000	LMNA	Pathogenic	rs61214927	RCV000015615\|RCV000057443;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:CN517202	1	156104644	156104644	1:g.156104644G>A	ClinGen:CA018460,UniProtKB:P02545#VAR_039770,OMIM:150330.0042	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.717C>A (p.Ser239Arg)	4000	LMNA	Uncertain significance	-1	RCV002226591;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348	1	156104673	156104673	156104673	-
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)	4000	LMNA	Conflicting interpretations of pathogenicity	rs150924946	RCV000041378\|RCV000148604\|RCV000619864\|RCV000726532\|RCV000777745\|RCV001086902\|RCV001174244;	N	MedGen:CN169374\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:CN230736\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MOND	1	156105062	156105062	1:g.156105062A>G	ClinGen:CA014949	CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)	4000	LMNA	Uncertain significance	rs775159300	RCV000227136\|RCV000653941\|RCV001102245\|RCV001102246\|RCV001102251\|RCV001100259\|RCV001100261\|RCV001102247\|RCV001102249\|RCV001100260\|RCV001102248\|RCV001102250;	N	MedGen:CN169374\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670	1	156105740	156105740	NC_000001.10:g.156105740C>G	ClinGen:CA10575962	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	4000	LMNA	Uncertain significance	rs749784223	RCV000812997\|RCV001096837\|RCV001096838\|RCV001096839\|RCV001096840\|RCV001096836\|RCV001096841\|RCV001102252\|RCV001096835\|RCV001096842\|RCV001098596\|RCV001172615\|RCV001189952\|RCV001593004\|RCV001823746\|RCV002381813\|RCV002507420;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:001	1	156105782	156105782	1:g.156105782C>T	-
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	4000	LMNA	Pathogenic/Likely pathogenic	rs267607555	RCV000057218\|RCV000500548\|RCV000653911\|RCV000754811\|RCV000845011\|RCV002504959;	N	MedGen:CN517202\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015967,MedGen:C3888631, Orphanet:183625\|6 conditions\|11 conditions	1	156105800	156105800	NC_000001.10:g.156105800C>T	ClinGen:CA016479	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	4000	LMNA	Conflicting interpretations of pathogenicity	rs267607603	RCV000057240\|RCV000259414\|RCV000259097\|RCV000263024\|RCV000289312\|RCV000293812\|RCV000298159\|RCV000324542\|RCV000327855\|RCV000355460\|RCV000377531\|RCV000384768\|RCV000536971\|RCV000619516\|RCV000776145\|RCV001093854\|RCV001098597;	N	MedGen:CN517202\|MedGen:CN239310\|MedGen:CN169374\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MedGe	1	156105904	156105904	1:g.156105904G>A	ClinGen:CA016698	CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)	4000	LMNA	Conflicting interpretations of pathogenicity	rs58672172	RCV000015616\|RCV000057255\|RCV000653937\|RCV001174241\|RCV001257937\|RCV001188431\|RCV002336085;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:CN517202\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phe	1	156106042	156106042	1:g.156106042C>T	ClinGen:CA016847,UniProtKB:P02545#VAR_039778,OMIM:150330.0043	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)	4000	LMNA	Benign	rs505058	RCV000041315\|RCV000057270\|RCV000252403\|RCV000268754\|RCV000278595\|RCV000300868\|RCV000304015\|RCV000351015\|RCV000326241\|RCV000357954\|RCV000360967\|RCV000402362\|RCV000392971\|RCV000776001\|RCV001093809\|RCV001098691\|RCV001173417\|RCV003125875;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973\|MedGen:CN239184\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MO	1	156106185	156106185	1:g.156106185T>C	ClinGen:CA017015	CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	4000	LMNA	Conflicting interpretations of pathogenicity	rs267607598	RCV000690888\|RCV001097054\|RCV001102454\|RCV001102455\|RCV001097051\|RCV001097053\|RCV001102456\|RCV001097050\|RCV001097052\|RCV001097049\|RCV001102457\|RCV001183072\|RCV001786410;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856\|MONDO:MONDO:0800042,MedGen:C5676878,OMIM:275210, Orphanet:1662\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:001	1	156106205	156106205	NC_000001.10:g.156106205G>A	-	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	4000	LMNA	Pathogenic/Likely pathogenic	rs61282106	RCV000015584\|RCV001851878\|RCV000057287;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN517202	1	156106725	156106725	1:g.156106725G>A	ClinGen:CA017164,UniProtKB:P02545#VAR_009989,OMIM:150330.0015	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	4000	LMNA	Pathogenic	rs57920071	RCV000015579\|RCV001174239\|RCV001235764\|RCV001248961\|RCV001266075\|RCV002482872\|RCV002390112\|RCV000057298;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0020088,MedGen:C0271694,OMIM:PS151660, Orphanet:98306\|MeSH:D030342	1	156106775	156106775	1:g.156106775C>T	ClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	4000	LMNA	Conflicting interpretations of pathogenicity	rs11575937	RCV000015575\|RCV000041318\|RCV000057299\|RCV000190399\|RCV000459624\|RCV000754814\|RCV000763258\|RCV001179839\|RCV001822996\|RCV002390111;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0021106,MedGen:C5392094, Orphanet:98301\|MedGen:CN517202\|MONDO:MONDO:0014676,MedGen:C2750035,OMIM:616516, Orphanet:261\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:	1	156106776	156106776	1:g.156106776G>A	ClinGen:CA014814,UniProtKB:P02545#VAR_009992,OMIM:150330.0010	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)	4000	LMNA	Uncertain significance	rs11575937	RCV000015580\|RCV000057300\|RCV001097055\|RCV001097056\|RCV001098783\|RCV001098788\|RCV001098782\|RCV001098784\|RCV001098785\|RCV001098786\|RCV001098787;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:CN517202\|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350, Orphanet:261, Orphanet:264\|MedGen:CN239184\|MONDO:MO	1	156106776	156106776	1:g.156106776G>T	OMIM:150330.0012,ClinGen:CA017271,UniProtKB:P02545#VAR_009991	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)	4000	LMNA	Pathogenic	rs59981161	RCV000057302\|RCV000193901;	N	MedGen:CN517202\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348	1	156106789	156106789	1:g.156106789G>T	ClinGen:CA017283,UniProtKB:P02545#VAR_009994	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	4000	LMNA	Uncertain significance	rs200466188	RCV000235878\|RCV000653862\|RCV000681642\|RCV001100889\|RCV001100614\|RCV001100615\|RCV001100616\|RCV001100617\|RCV001098789\|RCV001100613\|RCV001100618\|RCV001100620\|RCV001100619\|RCV001180056\|RCV002392729\|RCV002494678;	N	MedGen:CN517202\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|11 conditions\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350,O	1	156106818	156106818	1:g.156106818C>T	ClinGen:CA050321	C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	4000	LMNA	Conflicting interpretations of pathogenicity	rs375516745	RCV000272434\|RCV000279873\|RCV000283389\|RCV000295329\|RCV000329882\|RCV000337310\|RCV000341138\|RCV000364565\|RCV000387328\|RCV000424743\|RCV000769730\|RCV000399235\|RCV001093869\|RCV001097147\|RCV000733840\|RCV002392823;	N	MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670, Orphanet:740\|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,Orph	1	156106819	156106819	NC_000001.10:g.156106819G>A	ClinGen:CA050383	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1488+5G>C	4000	LMNA	Pathogenic	rs267607543	RCV000015610\|RCV000057307;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:CN517202	1	156106824	156106824	1:g.156106824G>C	ClinGen:CA017326,OMIM:150330.0039	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1488+14C>T	4000	LMNA	Conflicting interpretations of pathogenicity	rs377700689	RCV000154749\|RCV001097151\|RCV001097148\|RCV001097149\|RCV001098889\|RCV001098891\|RCV001098892\|RCV001098893\|RCV001097150\|RCV001097152\|RCV001098890\|RCV001173408\|RCV001795278\|RCV001850119;	N	MedGen:CN169374\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588, Orphanet:98856\|MedGen:CN239184\|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MONDO:MONDO:0013178	1	156106833	156106833	1:g.156106833C>T	ClinGen:CA017307	CN169374 not specified;
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	4000	LMNA	Pathogenic	rs57520892	RCV000015569\|RCV000015570\|RCV000700159\|RCV001375641\|RCV000057327;	N	MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350, Orphanet:261, Orphanet:264\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotyp	1	156106995	156106995	1:g.156106995G>C	ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003	C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	4000	LMNA	Pathogenic/Likely pathogenic	rs57629361	RCV000057329\|RCV000472329\|RCV000499741\|RCV001814041;	N	MedGen:CN517202\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745	1	156106998	156106998	1:g.156106998C>G	ClinGen:CA017510,UniProtKB:P02545#VAR_039785	C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy;
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	4000	LMNA	Uncertain significance	rs60580541	RCV000015608\|RCV000057332\|RCV002399329\|RCV002467496;	N	MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348	1	156107001	156107001	1:g.156107001C>T	UniProtKB:P02545#VAR_034709,OMIM:150330.0037,ClinGen:CA017534	C0432291 248370 Mandibuloacral dysostosis;
NM_170707.4(LMNA):c.1698C>T (p.His566=)	4000	LMNA	Benign	rs4641	RCV000041327\|RCV000057348\|RCV000225004\|RCV000252567\|RCV000280696\|RCV000307278\|RCV000313972\|RCV000350197\|RCV000335127\|RCV000339153\|RCV000375103\|RCV000393593\|RCV000398387\|RCV000775990\|RCV001098384\|RCV001093768\|RCV001173414\|RCV003125876;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370, Orphanet:2457, Orphanet:90153\|MedGen:CN230736\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300, Orphanet:261\|MON	1	156107534	156107534	1:g.156107534C>T	ClinGen:CA017662	CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1698+57G>A	4000	LMNA	Conflicting interpretations of pathogenicity	rs557334569	RCV000263913\|RCV000267234\|RCV000278097\|RCV000293451\|RCV000318957\|RCV000333140\|RCV000322274\|RCV000361986\|RCV000358640\|RCV000373664\|RCV001099085;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205, Orphanet:157973\|MedGen:CN239184\|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670	1	156107591	156107591	NC_000001.10:g.156107591G>A	ClinGen:CA051003	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_170707.4(LMNA):c.1699-2A>G	4000	LMNA	Likely pathogenic	-1	RCV001706860;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348	1	156108277	156108277	156108277	-
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	4000	LMNA	Conflicting interpretations of pathogenicity	rs60890628	RCV000015612\|RCV000015613\|RCV000015614\|RCV000041329\|RCV000057351\|RCV000617932\|RCV000653881\|RCV001248900\|RCV001188887\|RCV002221478\|RCV002509159;	N	MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MedGen:CN043412\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:	1	156108298	156108298	1:g.156108298C>T	ClinGen:CA020299,UniProtKB:P02545#VAR_039789,OMIM:150330.0041	CN230736 Cardiovascular phenotype;
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	4000	LMNA	Conflicting interpretations of pathogenicity	rs57830985	RCV000015585\|RCV001068657\|RCV002399327\|RCV001804734\|RCV000057353;	N	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202	1	156108325	156108325	1:g.156108325G>A	ClinGen:CA020309,UniProtKB:P02545#VAR_009998,OMIM:150330.0016	C1720860 151660 Familial partial lipodystrophy 2;
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	4000	LMNA	Conflicting interpretations of pathogenicity	rs56657623	RCV000041330\|RCV000057355\|RCV001065506\|RCV001184222\|RCV002467559\|RCV002504919;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|11 conditions	1	156108331	156108331	NC_000001.10:g.156108331G>A	ClinGen:CA020327
NM_170707.4(LMNA):c.1961dup (p.Thr655fs)	4000	LMNA	Pathogenic	rs863225024	RCV000057376\|RCV000201023\|RCV001051453\|RCV002415512;	N	MedGen:CN517202\|MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660, Orphanet:2348\|MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MedGen:CN230736	1	156108541	156108541	1:g.156108540_156108541insG	ClinGen:CA020498	C1720860 151660 Familial partial lipodystrophy 2;

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