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
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 LSDB:  
Genes: CHMP2B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000718Aggressive behavior
3 HP:0000741Apathy
4 HP:0002446Astrocytosis
5 HP:0003487Babinski sign
6 HP:0002120Cerebral cortical atrophy
7 HP:0000734Disinhibition
8 HP:0002442Dyscalculia
9 HP:0001332Dystonia
NAMDC:  Dystonia
10 HP:0000743Frontal release signs
11 HP:0002145Frontotemporal dementia
12 HP:0001288Gait disturbance
13 HP:0000710Hyperorality
14 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
15 HP:0000757Lack of insight
16 HP:0002371Loss of speech
17 HP:0002354Memory impairment
18 HP:0002300Mutism
19 HP:0001336Myoclonus
NAMDC:  Myoclonus
20 HP:0002529Neuronal loss in central nervous system
21 HP:0002310Orofacial dyskinesia
22 HP:0000751Personality changes
23 HP:0000711Restlessness
24 HP:0002063Rigidity
25 HP:0000733Stereotypy
26 HP:0000020Urinary incontinence
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014043.4(CHMP2B):c.-205C>T25978CHMP2BUncertain significancers556556377RCV000321227; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727646887276468CTNC_000003.11:g.87276468C>TClinGen:CA10616734C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-151C>A25978CHMP2BBenign/Likely benignrs77328592RCV000378169|RCV001584060; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238727652287276522CANC_000003.11:g.87276522C>AClinGen:CA10619686C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-144C>T25978CHMP2BUncertain significancers1441064038RCV001147330; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727652987276529CT3:g.87276529C>T-
NM_014043.4(CHMP2B):c.-102C>T25978CHMP2BBenign/Likely benignrs36098294RCV000286148|RCV001591003; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238727657187276571CTNC_000003.11:g.87276571C>TClinGen:CA10616735C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-38C>T25978CHMP2BUncertain significancers886058905RCV000324889; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727663587276635CTNC_000003.11:g.87276635C>TClinGen:CA10617526C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.-34G>A25978CHMP2BUncertain significancers199854996RCV001147331; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727663987276639GA3:g.87276639G>A-
NC_000003.11:g.(?_87276673)_(87325612_?)del25978CHMP2BUncertain significance-1RCV001922921; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727667387325612nana-1-
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=)25978CHMP2BLikely benign-1RCV002149568; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727669387276693GA87276693-
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)25978CHMP2BBenignrs2279720RCV000084270|RCV000248385|RCV000381786; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727669987276699CT3:g.87276699C>TClinGen:CA224965C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)25978CHMP2BUncertain significance-1RCV002040378; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338727670087276700GA87276700-
NM_014043.4(CHMP2B):c.34+8C>T25978CHMP2BBenignrs35413339RCV000288601|RCV000517928|RCV001579735; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN169374|MedGen:CN51720238727671487276714CTNC_000003.11:g.87276714C>TClinGen:CA2500852C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.35-7C>T25978CHMP2BBenignrs200912994RCV000874255; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338728984287289842CT3:g.87289842C>T-
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)25978CHMP2BConflicting interpretations of pathogenicityrs200322526RCV001148367; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338728987087289870GA3:g.87289870G>A-
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)25978CHMP2BConflicting interpretations of pathogenicityrs138886714RCV001148368|RCV001759655; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238728987887289878CT3:g.87289878C>T-
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)25978CHMP2BUncertain significancers63750818RCV000020697|RCV000084271; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238728989987289899AG3:g.87289899A>GOMIM:609512.0005,ClinGen:CA224967,UniProtKB:Q9UQN3#VAR_038373C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)25978CHMP2BLikely benign-1RCV001354452|RCV002070222; NMedGen:CN517202|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338728990287289902AG87289902-
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)25978CHMP2BUncertain significance-1RCV001946318; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338728990487289904AC87289904-
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)25978CHMP2BUncertain significance-1RCV001581266|RCV001825006; NMedGen:CN517202|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338728990887289908CT87289908-
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)25978CHMP2BLikely benignrs376846232RCV000968565|RCV001664577; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN16937438728992587289925AG3:g.87289925A>G-
NM_014043.4(CHMP2B):c.126+4A>G25978CHMP2BUncertain significance-1RCV001908973; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338728994487289944AG87289944-
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)25978CHMP2BLikely benignrs188471297RCV000884111; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729490087294900AC3:g.87294900A>C-
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)25978CHMP2BUncertain significancers143800051RCV001220348; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729491387294913AG3:g.87294913A>G-
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)25978CHMP2BUncertain significance-1RCV001763113|RCV001882879; NMedGen:CN517202|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729492487294924AG87294924-
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)25978CHMP2BBenignrs148750997RCV000347050; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729492987294929AGNC_000003.11:g.87294929A>GClinGen:CA2500931C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)25978CHMP2BUncertain significancers1706200423RCV001148369; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729493987294939CT3:g.87294939C>T-
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)25978CHMP2BUncertain significance-1RCV001927104; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729494287294942CT87294942-
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)25978CHMP2BConflicting interpretations of pathogenicityrs200792883RCV001092352|RCV001241565; NMedGen:CN517202|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729494387294943GA3:g.87294943G>A-
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)25978CHMP2BConflicting interpretations of pathogenicityrs192188850RCV000390491|RCV000516998; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN16937438729495587294955CTNC_000003.11:g.87294955C>TClinGen:CA2500938C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=)25978CHMP2BLikely benign-1RCV002196117; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729495687294956GA87294956-
NM_014043.4(CHMP2B):c.234A>C (p.Val78=)25978CHMP2BLikely benign-1RCV002113836; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729497187294971AC87294971-
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)25978CHMP2BUncertain significance-1RCV001931558; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729498587294985CT87294985-
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)25978CHMP2BUncertain significancers1706202120RCV001063866; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729500587295005AG3:g.87295005A>G-
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)25978CHMP2BUncertain significance-1RCV002018852; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729502487295024TC87295024-
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)25978CHMP2BConflicting interpretations of pathogenicityrs281864934RCV000055937; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729504887295048CA3:g.87295048C>AClinGen:CA260074,UniProtKB:Q9UQN3#VAR_068689,OMIM:609512.0006C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)25978CHMP2BBenignrs11540913RCV000084272|RCV000252941|RCV000293185; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729504987295049TC3:g.87295049T>CClinGen:CA224968C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=)25978CHMP2BLikely benign-1RCV001931659; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729505287295052AG87295052-
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=)25978CHMP2BLikely benign-1RCV002135428; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729505287295052AC87295052-
NM_014043.4(CHMP2B):c.321+3A>G25978CHMP2BUncertain significance-1RCV001931937; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729506187295061AG87295061-
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)25978CHMP2BUncertain significance-1RCV001912346; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729904287299042CG87299042-
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)25978CHMP2BBenign/Likely benignrs189313287RCV000350500; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729906787299067TCNC_000003.11:g.87299067T>CClinGen:CA2500973C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)25978CHMP2BBenignrs1044499RCV000084273|RCV000244940|RCV000402232; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729907587299075AC3:g.87299075A>CClinGen:CA224970C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)25978CHMP2BUncertain significance-1RCV001809184; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729912487299124AG87299124-
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)25978CHMP2BUncertain significance-1RCV001809185; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729912687299126GA87299126-
NM_014043.4(CHMP2B):c.424+10A>G25978CHMP2BLikely benign-1RCV001500499; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729913787299137AG87299137-
NM_014043.4(CHMP2B):c.424+19_424+21del25978CHMP2BLikely benign-1RCV002102881; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338729914487299146TATAT87299143-
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)25978CHMP2BUncertain significance-1RCV001989013; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730255687302556AG87302556-
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)25978CHMP2BPathogenicrs63750653RCV000001720|RCV000084275; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730257187302571GT3:g.87302571G>TClinGen:CA224974,UniProtKB:Q9UQN3#VAR_023383,OMIM:609512.0002C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=)25978CHMP2BLikely benign-1RCV001467086; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730258287302582CT87302582-
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=)25978CHMP2BLikely benign-1RCV001412195; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730260387302603AG87302603-
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)25978CHMP2BPathogenicrs63750355RCV000001722|RCV000084276; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730262287302622CT3:g.87302622C>TClinGen:CA224975,OMIM:609512.0004C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.531+8C>T25978CHMP2BConflicting interpretations of pathogenicityrs374796686RCV001149929; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730266887302668CT3:g.87302668C>T-
NM_014043.4(CHMP2B):c.532-3T>C25978CHMP2BUncertain significance-1RCV001954222; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730285987302859TC87302859-
NM_014043.4(CHMP2B):c.532-1G>A25978CHMP2BPathogenicrs63750652RCV000020694; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730286187302861GA3:g.87302861G>AClinGen:CA342147C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.532-1G>C25978CHMP2BPathogenicrs63750652RCV000084277|RCV002055246; NMedGen:CN517202|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730286187302861GC3:g.87302861G>CClinGen:CA224977,OMIM:609512.0001CN517202 not provided;
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)25978CHMP2BUncertain significance-1RCV001912051; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730287587302875CT87302875-
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)25978CHMP2BBenign/Likely benignrs143178463RCV000315280; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730287987302879AGNC_000003.11:g.87302879A>GClinGen:CA2501035C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp)25978CHMP2BUncertain significance-1RCV002022913; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730288487302884CA87302884-
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)25978CHMP2BPathogenicrs63751048RCV000020695|RCV000084278; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730288687302886CT3:g.87302886C>TClinGen:CA224978C1833296 600795 Frontotemporal Dementia, Chromosome 3-Linked;
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)25978CHMP2BBenignrs78268395RCV000249485|RCV000335262|RCV000514690; NMedGen:CN169374|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730289087302890GANC_000003.11:g.87302890G>AClinGen:CA2501038C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)25978CHMP2BUncertain significancers149380040RCV000704973|RCV000991798; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730291187302911CT3:g.87302911C>T-C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp)25978CHMP2BUncertain significancers373536428RCV001340722; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730294387302943CT87302943-
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)25978CHMP2BUncertain significance-1RCV001930013; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730294487302944GA87302944-
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)25978CHMP2BPathogenicrs63751126RCV000020696|RCV000084279; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730294887302948AC3:g.87302948A>CClinGen:CA224980,UniProtKB:Q9UQN3#VAR_038374,OMIM:609512.0003C1836076 614696 Amyotrophic lateral sclerosis 17;
NM_014043.4(CHMP2B):c.*121G>A25978CHMP2BUncertain significancers1706359144RCV001149930; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730309387303093GA3:g.87303093G>A-
NM_014043.4(CHMP2B):c.*231T>C25978CHMP2BBenign/Likely benignrs17189270RCV000357174|RCV001559458; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803|MedGen:CN51720238730320387303203TC3:g.87303203T>CClinGen:CA10619648C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*602T>G25978CHMP2BUncertain significancers886058908RCV000264562; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730357487303574TG3:g.87303574T>GClinGen:CA10617531C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*626A>G25978CHMP2BUncertain significancers971797498RCV001149931; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730359887303598AG3:g.87303598A>G-
NM_014043.4(CHMP2B):c.*718C>T25978CHMP2BUncertain significancers918982067RCV001145591; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730369087303690CT3:g.87303690C>T-
NM_014043.4(CHMP2B):c.*744C>A25978CHMP2BBenignrs185167991RCV001145592; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730371687303716CA3:g.87303716C>A-
NM_014043.4(CHMP2B):c.*836T>C25978CHMP2BBenignrs189927047RCV000303314; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730380887303808TC3:g.87303808T>CClinGen:CA10617532C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*864G>A25978CHMP2BBenignrs181777395RCV000360644; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730383687303836GA3:g.87303836G>AClinGen:CA10617537C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*901T>C25978CHMP2BUncertain significancers1014335812RCV001145593; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730387387303873TC3:g.87303873T>C-
NM_014043.4(CHMP2B):c.*968G>A25978CHMP2BUncertain significancers886058910RCV000382637; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730394087303940GANC_000003.11:g.87303940G>AClinGen:CA10616740C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1071A>G25978CHMP2BBenignrs544589377RCV000329921; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730404387304043AGNC_000003.11:g.87304043A>GClinGen:CA10616743C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1080C>T25978CHMP2BUncertain significancers963258376RCV001145594; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730405287304052CT3:g.87304052C>T-
NM_014043.4(CHMP2B):c.*1190G>T25978CHMP2BBenign/Likely benignrs115892684RCV000386865|RCV001145713; NHuman 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:80338730416287304162GTNC_000003.11:g.87304162G>TClinGen:CA10619662C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1255G>T25978CHMP2BBenignrs144167614RCV001145714; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730422787304227GT3:g.87304227G>T-
NM_014043.4(CHMP2B):c.*1376G>C25978CHMP2BBenignrs191203869RCV000294918; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730434887304348GCNC_000003.11:g.87304348G>CClinGen:CA10619663C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1408A>G25978CHMP2BBenignrs183429826RCV000352170; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730438087304380AGNC_000003.11:g.87304380A>GClinGen:CA10619700C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1414T>C25978CHMP2BUncertain significancers1575973316RCV001145715; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730438687304386TC3:g.87304386T>C-
NM_014043.4(CHMP2B):c.*1421C>T25978CHMP2BUncertain significancers1016915311RCV001145716; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730439387304393CT3:g.87304393C>T-
NM_014043.4(CHMP2B):c.*1422G>A25978CHMP2BUncertain significancers572323799RCV000371912; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730439487304394GANC_000003.11:g.87304394G>AClinGen:CA10616744C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1482T>A25978CHMP2BUncertain significancers910263560RCV001148472; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730445487304454TA3:g.87304454T>A-
NM_014043.4(CHMP2B):c.*1503G>C25978CHMP2BBenign/Likely benignrs1060238RCV000279254|RCV001148473; NHuman 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:80338730447587304475GCNC_000003.11:g.87304475G>CClinGen:CA10619664C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1516C>T25978CHMP2BUncertain significancers1024508536RCV001148474; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730448887304488CT3:g.87304488C>T-
NM_014043.4(CHMP2B):c.*1588C>T25978CHMP2BBenignrs11426RCV000336612; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730456087304560CTNC_000003.11:g.87304560C>TClinGen:CA10619701C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1610C>T25978CHMP2BBenignrs191312397RCV001150051; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730458287304582CT3:g.87304582C>T-
NM_014043.4(CHMP2B):c.*1647A>G25978CHMP2BUncertain significancers534772903RCV001150052; NMONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:80338730461987304619AG3:g.87304619A>G-
NM_014043.4(CHMP2B):c.*1589G>A-1CHMP2B;POU1F1Benign/Likely benignrs1060241RCV000372680|RCV000399132|RCV001148475; NMedGen: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:80338730456187304561GA3:g.87304561G>AClinGen:CA10617539CN239344 Combined Pituitary Hormone Deficiency, Recessive;
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