MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

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: Frontotemporal Dementia (D057180)
..Starting node ..Chromosome 3-Linked Frontotemporal Dementia (C579991)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
..AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
..AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
..Amyotrophic Lateral Sclerosis 6, Autosomal Recessive (C567699)
..Chromosome 3-Linked Frontotemporal Dementia (C579991)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
..Frontotemporal Dementia With Motor Neuron Disease (C566288)
..Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..Pallidopontonigral Degeneration (C563003)
..Pick Disease of the Brain (D020774)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2487

Name:

Chromosome 3-Linked Frontotemporal Dementia

Definition:

Alternative IDs:

OMIM:600795

ParentIDs:

MESH:D057180

TreeNumbers:

C10.228.140.380.266.299/C579991 |C10.574.950.300.299/C579991 |C18.452.845.800.300.299/C579991 |F03.615.400.380.299/C579991

Synonyms:

Chmp2b-Related Frontotemporal Dementia |DEM |Dementia, Familial Nonspecific |DMT1 |Dtm1 |Frontotemporal Dementia, Chromosome 3-Linked |Ftd3 |Ftd-3 |Ftd-Chmp2b

Slim Mappings:

Mental disorder|Metabolic disease|Nervous system disease

Reference:

MedGen: C579991
MeSH: C579991
OMIM: 600795;
MSeqDR :
Genes: CHMP2B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000718	Aggressive behavior
3	HP:0000741	Apathy
4	HP:0002446	Astrocytosis
5	HP:0003487	Babinski sign
6	HP:0002120	Cerebral cortical atrophy
7	HP:0000734	Disinhibition
8	HP:0002442	Dyscalculia
9	HP:0001332	Dystonia NAMDC: Dystonia
10	HP:0000743	Frontal release signs
11	HP:0002145	Frontotemporal dementia
12	HP:0001288	Gait disturbance
13	HP:0000710	Hyperorality
14	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
15	HP:0000757	Lack of insight
16	HP:0002371	Loss of speech
17	HP:0002354	Memory impairment
18	HP:0002300	Mutism
19	HP:0001336	Myoclonus NAMDC: Myoclonus
20	HP:0002529	Neuronal loss in central nervous system
21	HP:0002310	Orofacial dyskinesia
22	HP:0000751	Personality changes
23	HP:0000711	Restlessness
24	HP:0002063	Rigidity
25	HP:0000733	Stereotypy
26	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_014043.4(CHMP2B):c.-205C>T	25978	CHMP2B	Uncertain significance	rs556556377	RCV000321227;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276468	87276468	NC_000003.11:g.87276468C>T	ClinGen:CA10616734	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-151C>A	25978	CHMP2B	Benign/Likely benign	rs77328592	RCV000378169\|RCV001584060;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87276522	87276522	NC_000003.11:g.87276522C>A	ClinGen:CA10619686	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-144C>T	25978	CHMP2B	Uncertain significance	rs1441064038	RCV001147330;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276529	87276529	3:g.87276529C>T	-
NM_014043.4(CHMP2B):c.-102C>T	25978	CHMP2B	Benign/Likely benign	rs36098294	RCV000286148\|RCV001591003;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87276571	87276571	NC_000003.11:g.87276571C>T	ClinGen:CA10616735	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-38C>T	25978	CHMP2B	Uncertain significance	rs886058905	RCV000324889;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276635	87276635	NC_000003.11:g.87276635C>T	ClinGen:CA10617526	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-34G>A	25978	CHMP2B	Uncertain significance	rs199854996	RCV001147331;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276639	87276639	3:g.87276639G>A	-
NC_000003.11:g.(?_87276673)_(87325612_?)del	25978	CHMP2B	Uncertain significance	-1	RCV001922921;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276673	87325612	-1	-
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=)	25978	CHMP2B	Likely benign	-1	RCV002149568;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276693	87276693	87276693	-
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)	25978	CHMP2B	Benign	rs2279720	RCV000084270\|RCV000248385\|RCV000381786;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276699	87276699	3:g.87276699C>T	ClinGen:CA224965	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)	25978	CHMP2B	Uncertain significance	-1	RCV002040378;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276700	87276700	87276700	-
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)	25978	CHMP2B	Uncertain significance	-1	RCV002296108;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87276704	87276704	87276704	-
NM_014043.4(CHMP2B):c.34+8C>T	25978	CHMP2B	Benign/Likely benign	rs35413339	RCV000288601\|RCV000517928\|RCV001579735;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN169374\|MedGen:CN517202	3	87276714	87276714	NC_000003.11:g.87276714C>T	ClinGen:CA2500852	C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.35-7C>T	25978	CHMP2B	Benign	rs200912994	RCV000874255;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289842	87289842	3:g.87289842C>T	-
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)	25978	CHMP2B	Conflicting interpretations of pathogenicity	rs200322526	RCV001148367;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289870	87289870	3:g.87289870G>A	-
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)	25978	CHMP2B	Conflicting interpretations of pathogenicity	rs138886714	RCV001148368\|RCV001759655;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87289878	87289878	3:g.87289878C>T	-
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)	25978	CHMP2B	Uncertain significance	-1	RCV002890501;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289885	87289885	NC_000003.11:g.87289885C>T	-
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)	25978	CHMP2B	Uncertain significance	rs63750818	RCV000020697\|RCV000084271;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87289899	87289899	3:g.87289899A>G	ClinGen:CA224967,UniProtKB:Q9UQN3#VAR_038373,OMIM:609512.0005	C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)	25978	CHMP2B	Likely benign	-1	RCV001354452\|RCV002070222;	N	MedGen:CN517202\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289902	87289902	87289902	-
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)	25978	CHMP2B	Uncertain significance	-1	RCV001946318;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289904	87289904	87289904	-
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)	25978	CHMP2B	Uncertain significance	-1	RCV001581266\|RCV001825006;	N	MedGen:CN517202\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289908	87289908	87289908	-
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)	25978	CHMP2B	Likely benign	rs376846232	RCV000968565\|RCV001664577;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN169374	3	87289925	87289925	3:g.87289925A>G	-
NM_014043.4(CHMP2B):c.126+4A>G	25978	CHMP2B	Uncertain significance	-1	RCV001908973;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87289944	87289944	87289944	-
NM_014043.4(CHMP2B):c.127-7C>T	25978	CHMP2B	Likely benign	-1	RCV002581939;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294857	87294857	NC_000003.11:g.87294857C>T	-
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)	25978	CHMP2B	Likely benign	rs188471297	RCV000884111;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294900	87294900	3:g.87294900A>C	-
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)	25978	CHMP2B	Uncertain significance	-1	RCV003016249;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294912	87294912	NC_000003.11:g.87294912A>G	-
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)	25978	CHMP2B	Uncertain significance	rs143800051	RCV001220348;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294913	87294913	3:g.87294913A>G	-
NM_014043.4(CHMP2B):c.180T>G (p.Val60_Leu61=)	25978	CHMP2B	Likely benign	-1	RCV003011452;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294917	87294917	NC_000003.11:g.87294917T>G	-
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)	25978	CHMP2B	Uncertain significance	-1	RCV001763113\|RCV001882879;	N	MedGen:CN517202\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294924	87294924	87294924	-
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)	25978	CHMP2B	Benign	rs148750997	RCV000347050;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294929	87294929	NC_000003.11:g.87294929A>G	ClinGen:CA2500931	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)	25978	CHMP2B	Uncertain significance	rs1706200423	RCV001148369;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294939	87294939	3:g.87294939C>T	-
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)	25978	CHMP2B	Uncertain significance	-1	RCV001927104;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294942	87294942	87294942	-
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)	25978	CHMP2B	Conflicting interpretations of pathogenicity	rs200792883	RCV001092352\|RCV001241565;	N	MedGen:CN517202\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294943	87294943	3:g.87294943G>A	-
NM_014043.4(CHMP2B):c.216G>A (p.Lys72_Thr73=)	25978	CHMP2B	Likely benign	-1	RCV002972079;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294953	87294953	NC_000003.11:g.87294953G>A	-
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)	25978	CHMP2B	Conflicting interpretations of pathogenicity	rs192188850	RCV000390491\|RCV000516998;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN169374	3	87294955	87294955	NC_000003.11:g.87294955C>T	ClinGen:CA2500938	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=)	25978	CHMP2B	Likely benign	-1	RCV002196117;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294956	87294956	87294956	-
NM_014043.4(CHMP2B):c.234A>C (p.Val78=)	25978	CHMP2B	Likely benign	-1	RCV002113836;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294971	87294971	87294971	-
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)	25978	CHMP2B	Uncertain significance	-1	RCV001931558\|RCV002246603;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN169374	3	87294985	87294985	87294985	-
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)	25978	CHMP2B	Uncertain significance	-1	RCV002303440;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294990	87294990	87294990	-
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)	25978	CHMP2B	Uncertain significance	-1	RCV002735174;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87294998	87295001	NC_000003.11:g.87294999CAAA[1]	-
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)	25978	CHMP2B	Uncertain significance	rs1706202120	RCV001063866;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295005	87295005	3:g.87295005A>G	-
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)	25978	CHMP2B	Uncertain significance	-1	RCV002018852;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295024	87295024	87295024	-
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)	25978	CHMP2B	Pathogenic	rs281864934	RCV000055937;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295048	87295048	3:g.87295048C>A	ClinGen:CA260074,UniProtKB:Q9UQN3#VAR_068689,OMIM:609512.0006	C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)	25978	CHMP2B	Benign	rs11540913	RCV000084272\|RCV000252941\|RCV000293185;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295049	87295049	3:g.87295049T>C	ClinGen:CA224968	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=)	25978	CHMP2B	Likely benign	-1	RCV001931659;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295052	87295052	87295052	-
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=)	25978	CHMP2B	Likely benign	-1	RCV002135428;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295052	87295052	87295052	-
NM_014043.4(CHMP2B):c.321+3A>G	25978	CHMP2B	Uncertain significance	-1	RCV001931937;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295061	87295061	87295061	-
NM_014043.4(CHMP2B):c.321+10A>C	25978	CHMP2B	Likely benign	-1	RCV002976469;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87295068	87295068	NC_000003.11:g.87295068A>C	-
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)	25978	CHMP2B	Uncertain significance	-1	RCV001912346;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299042	87299042	87299042	-
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)	25978	CHMP2B	Uncertain significance	-1	RCV002296313;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299065	87299065	87299065	-
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)	25978	CHMP2B	Benign/Likely benign	rs189313287	RCV000350500;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299067	87299067	NC_000003.11:g.87299067T>C	ClinGen:CA2500973	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)	25978	CHMP2B	Benign	rs1044499	RCV000084273\|RCV000244940\|RCV000402232;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299075	87299075	3:g.87299075A>C	ClinGen:CA224970	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.408A>G (p.Glu136_Met137=)	25978	CHMP2B	Likely benign	-1	RCV003088399;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299111	87299111	NC_000003.11:g.87299111A>G	-
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)	25978	CHMP2B	Uncertain significance	-1	RCV001809184;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299124	87299124	87299124	-
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)	25978	CHMP2B	Uncertain significance	-1	RCV001809185;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299126	87299126	87299126	-
NM_014043.4(CHMP2B):c.424+10A>G	25978	CHMP2B	Likely benign	-1	RCV001500499;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299137	87299137	87299137	-
NM_014043.4(CHMP2B):c.424+19_424+21del	25978	CHMP2B	Likely benign	-1	RCV002102881;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299144	87299146	87299143	-
NM_014043.4(CHMP2B):c.424+20A>C	25978	CHMP2B	Likely benign	-1	RCV003072983;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87299147	87299147	NC_000003.11:g.87299147A>C	-
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)	25978	CHMP2B	Uncertain significance	-1	RCV001989013;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302556	87302556	87302556	-
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)	25978	CHMP2B	Uncertain significance	rs63750944	RCV000084274\|RCV002513896;	N	MedGen:CN517202\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302557	87302557	3:g.87302557A>G	ClinGen:CA224972	CN517202 not provided;
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)	25978	CHMP2B	Uncertain significance	-1	RCV003109068;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302567	87302569	NC_000003.11:g.87302567TGA[1]	-
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)	25978	CHMP2B	Pathogenic	rs63750653	RCV000001720\|RCV000084275;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87302571	87302571	3:g.87302571G>T	ClinGen:CA224974,UniProtKB:Q9UQN3#VAR_023383,OMIM:609512.0002	C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=)	25978	CHMP2B	Likely benign	-1	RCV001467086;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302582	87302582	87302582	-
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=)	25978	CHMP2B	Likely benign	-1	RCV001412195;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302603	87302603	87302603	-
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)	25978	CHMP2B	Pathogenic	rs63750355	RCV000001722\|RCV000084276;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87302622	87302622	3:g.87302622C>T	ClinGen:CA224975,OMIM:609512.0004	C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.531+8C>T	25978	CHMP2B	Conflicting interpretations of pathogenicity	rs374796686	RCV001149929;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302668	87302668	3:g.87302668C>T	-
NM_014043.4(CHMP2B):c.532-3T>C	25978	CHMP2B	Uncertain significance	-1	RCV001954222;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302859	87302859	87302859	-
NM_014043.4(CHMP2B):c.532-1G>A	25978	CHMP2B	not provided	rs63750652	RCV000020694;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302861	87302861	3:g.87302861G>A	ClinGen:CA342147	C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.532-1G>C	25978	CHMP2B	Pathogenic	rs63750652	RCV000084277\|RCV002055246;	N	MedGen:CN517202\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302861	87302861	3:g.87302861G>C	ClinGen:CA224977,OMIM:609512.0001	CN517202 not provided;
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)	25978	CHMP2B	Uncertain significance	-1	RCV002912903;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302864	87302864	NC_000003.11:g.87302865del	-
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)	25978	CHMP2B	Uncertain significance	-1	RCV001912051;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302875	87302875	87302875	-
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)	25978	CHMP2B	Benign/Likely benign	rs143178463	RCV000315280;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302879	87302879	NC_000003.11:g.87302879A>G	ClinGen:CA2501035	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp)	25978	CHMP2B	Uncertain significance	-1	RCV002022913;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302884	87302884	87302884	-
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)	25978	CHMP2B	not provided	rs63751048	RCV000020695\|RCV000084278;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87302886	87302886	3:g.87302886C>T	ClinGen:CA224978	C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)	25978	CHMP2B	Benign/Likely benign	rs78268395	RCV000249485\|RCV000335262\|RCV000514690;	N	MedGen:CN169374\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87302890	87302890	NC_000003.11:g.87302890G>A	ClinGen:CA2501038	C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.579T>A (p.Thr193_Ser194=)	25978	CHMP2B	Likely benign	-1	RCV002885594;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302909	87302909	NC_000003.11:g.87302909T>A	-
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)	25978	CHMP2B	Uncertain significance	rs149380040	RCV000704973\|RCV000991798;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87302911	87302911	3:g.87302911C>T	-	C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp)	25978	CHMP2B	Uncertain significance	rs373536428	RCV001340722;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302943	87302943	87302943	-
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)	25978	CHMP2B	Uncertain significance	-1	RCV001930013;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302944	87302944	87302944	-
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)	25978	CHMP2B	Pathogenic	rs63751126	RCV000020696\|RCV000084279;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87302948	87302948	3:g.87302948A>C	ClinGen:CA224980,UniProtKB:Q9UQN3#VAR_038374,OMIM:609512.0003	C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)	25978	CHMP2B	Uncertain significance	-1	RCV002837728;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87302962	87302962	NC_000003.11:g.87302962G>C	-
NM_014043.4(CHMP2B):c.*121G>A	25978	CHMP2B	Uncertain significance	rs1706359144	RCV001149930;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303093	87303093	3:g.87303093G>A	-
NM_014043.4(CHMP2B):c.*231T>C	25978	CHMP2B	Benign/Likely benign	rs17189270	RCV000357174\|RCV001559458;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803\|MedGen:CN517202	3	87303203	87303203	3:g.87303203T>C	ClinGen:CA10619648	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*602T>G	25978	CHMP2B	Uncertain significance	rs886058908	RCV000264562;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303574	87303574	3:g.87303574T>G	ClinGen:CA10617531	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*626A>G	25978	CHMP2B	Uncertain significance	rs971797498	RCV001149931;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303598	87303598	3:g.87303598A>G	-
NM_014043.4(CHMP2B):c.*718C>T	25978	CHMP2B	Uncertain significance	rs918982067	RCV001145591;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303690	87303690	3:g.87303690C>T	-
NM_014043.4(CHMP2B):c.*744C>A	25978	CHMP2B	Benign	rs185167991	RCV001145592;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303716	87303716	3:g.87303716C>A	-
NM_014043.4(CHMP2B):c.*836T>C	25978	CHMP2B	Benign	rs189927047	RCV000303314;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303808	87303808	3:g.87303808T>C	ClinGen:CA10617532	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*864G>A	25978	CHMP2B	Benign	rs181777395	RCV000360644;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303836	87303836	3:g.87303836G>A	ClinGen:CA10617537	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*901T>C	25978	CHMP2B	Uncertain significance	rs1014335812	RCV001145593;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303873	87303873	3:g.87303873T>C	-
NM_014043.4(CHMP2B):c.*968G>A	25978	CHMP2B	Uncertain significance	rs886058910	RCV000382637;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87303940	87303940	NC_000003.11:g.87303940G>A	ClinGen:CA10616740	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1071A>G	25978	CHMP2B	Benign	rs544589377	RCV000329921;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304043	87304043	NC_000003.11:g.87304043A>G	ClinGen:CA10616743	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1080C>T	25978	CHMP2B	Uncertain significance	rs963258376	RCV001145594;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304052	87304052	3:g.87304052C>T	-
NM_014043.4(CHMP2B):c.*1190G>T	25978	CHMP2B	Benign/Likely benign	rs115892684	RCV000386865\|RCV001145713;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304162	87304162	NC_000003.11:g.87304162G>T	ClinGen:CA10619662	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1255G>T	25978	CHMP2B	Benign	rs144167614	RCV001145714;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304227	87304227	3:g.87304227G>T	-
NM_014043.4(CHMP2B):c.*1376G>C	25978	CHMP2B	Benign	rs191203869	RCV000294918;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304348	87304348	NC_000003.11:g.87304348G>C	ClinGen:CA10619663	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1408A>G	25978	CHMP2B	Benign	rs183429826	RCV000352170;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304380	87304380	NC_000003.11:g.87304380A>G	ClinGen:CA10619700	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1414T>C	25978	CHMP2B	Uncertain significance	rs1575973316	RCV001145715;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304386	87304386	3:g.87304386T>C	-
NM_014043.4(CHMP2B):c.*1421C>T	25978	CHMP2B	Uncertain significance	rs1016915311	RCV001145716;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304393	87304393	3:g.87304393C>T	-
NM_014043.4(CHMP2B):c.*1422G>A	25978	CHMP2B	Uncertain significance	rs572323799	RCV000371912;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304394	87304394	NC_000003.11:g.87304394G>A	ClinGen:CA10616744	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1482T>A	25978	CHMP2B	Uncertain significance	rs910263560	RCV001148472;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304454	87304454	3:g.87304454T>A	-
NM_014043.4(CHMP2B):c.*1503G>C	25978	CHMP2B	Benign/Likely benign	rs1060238	RCV000279254\|RCV001148473;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304475	87304475	NC_000003.11:g.87304475G>C	ClinGen:CA10619664	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1516C>T	25978	CHMP2B	Uncertain significance	rs1024508536	RCV001148474;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304488	87304488	3:g.87304488C>T	-
NM_014043.4(CHMP2B):c.*1588C>T	25978	CHMP2B	Benign	rs11426	RCV000336612;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304560	87304560	NC_000003.11:g.87304560C>T	ClinGen:CA10619701	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1610C>T	25978	CHMP2B	Benign	rs191312397	RCV001150051;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304582	87304582	3:g.87304582C>T	-
NM_014043.4(CHMP2B):c.*1647A>G	25978	CHMP2B	Uncertain significance	rs534772903	RCV001150052;	N	MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304619	87304619	3:g.87304619A>G	-
NM_014043.4(CHMP2B):c.*1589G>A	-1	CHMP2B;POU1F1	Benign/Likely benign	rs1060241	RCV000372680\|RCV000399132\|RCV001148475;	N	MedGen:CN239344\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304561	87304561	3:g.87304561G>A	ClinGen:CA10617539	CN239344 Combined Pituitary Hormone Deficiency, Recessive;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen