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:4886
Name:Frontotemporal Dementia
Definition:The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.
Alternative IDs:DO:DOID:9255|OMIM:600274
ParentIDs:MESH:D057174
TreeNumbers:C10.228.140.380.266.299 |C10.574.950.300.299 |C18.452.845.800.300.299 |F03.615.400.380.299
Synonyms:Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy |Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy |Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy |Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy |DDPAC |Dementia, Frontotempor
Slim Mappings:Mental disorder|Metabolic disease|Nervous system disease
Reference: MedGen: D057180
MeSH: D057180
OMIM: 600274;
MSeqDR LSDB:  
Genes: MAPT; PSEN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007354Amyotrophic lateral sclerosis
3 HP:0000741Apathy
4 HP:0000734Disinhibition
5 HP:0000727Frontal lobe dementia
6 HP:0002145Frontotemporal dementia
7 HP:0001425Heterogeneous
8 HP:0000710Hyperorality
9 HP:0000748Inappropriate laughter
10 HP:0008768Inappropriate sexual behavior
11 HP:0000737Irritability
12 HP:0002463Language impairment
13 HP:0002529Neuronal loss in central nervous system
14 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
15 HP:0000751Personality changes
16 HP:0002591Polyphagia
17 HP:0002476Primitive reflex
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)10347ABCA7risk factorrs770510230RCV001090095; NMeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2821910581541058154GT19:g.1058154G>T-
NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)283ANGUncertain significance-1RCV001848613|RCV002034770; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202142116209121162091GC21162091-
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)410ARSAConflicting interpretations of pathogenicityrs199476352RCV000058956|RCV000409776|RCV001090098; NMedGen:CN517202|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282225106580351065803GA22:g.51065803G>AClinGen:CA219008,UniProtKB/Swiss-Prot:VAR_054169C0023522 250100 Metachromatic leukodystrophy;
NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)899CCNFLikely pathogenic-1RCV001848611; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2821624871562487156GA2487156-
NM_014043.3(CHMP2B):c.-259C>A25978CHMP2BUncertain significancers538600777RCV000263633; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238727641487276414CANC_000003.11:g.87276414C>AClinGen:CA10619647C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*92dup25978CHMP2BUncertain significancers886058906RCV000393501; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238730306387303064GGC3:g.87303063_87303064insCClinGen:CA10619698C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*106dup25978CHMP2BConflicting interpretations of pathogenicityrs368297778RCV000299934|RCV001660726; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN51720238730306487303065CCA3:g.87303064_87303065insAClinGen:CA10616739C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*899T>A25978CHMP2BLikely benignrs186472338RCV000268315; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238730387187303871TANC_000003.11:g.87303871T>AClinGen:CA10619654C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*955_*960del25978CHMP2BUncertain significancers886058909RCV000325634; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238730392487303929GTTTAATGNC_000003.11:g.87303927_87303932delClinGen:CA10617538C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1008_*1011del25978CHMP2BUncertain significancers886058911RCV000272519; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238730397887303981CAATTCNC_000003.11:g.87303980_87303983delClinGen:CA10619699C0338451 600274 Frontotemporal dementia;
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.*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.*1641A>C25978CHMP2BUncertain significancers886058912RCV000302114; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238730461387304613ACNC_000003.11:g.87304613A>CClinGen:CA10619666C0338451 600274 Frontotemporal dementia;
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;
NM_000306.4(POU1F1):c.*139dup-1CHMP2B;POU1F1Conflicting interpretations of pathogenicityrs368061882RCV000366346|RCV000404010; NMedGen:CN239344|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28238730890487308905TTANC_000003.11:g.87308905dupAClinGen:CA10619671CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*139T>A-1CHMP2B;POU1F1Benign/Likely benignrs4988463RCV000277699|RCV000404776|RCV001143923|RCV001683381; NMedGen:CN239344|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:CN51720238730890587308905AT3:g.87308905A>TClinGen:CA10616754CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.666-6C>T-1CHMP2B;POU1F1Conflicting interpretations of pathogenicityrs201995103RCV000338684|RCV000395594|RCV000898539; NMedGen:CN239344|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN51720238730926087309260GA3:g.87309260G>AClinGen:CA2501101CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)1137CHRNA4Conflicting interpretations of pathogenicityrs121912282RCV000084610|RCV000513088|RCV000654320|RCV001847655; NMedGen:C0040336|MedGen:CN517202|MONDO:MONDO:0020300,MedGen:C3696898, Orphanet:98784|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282206198112961981129GA20:g.61981129G>AClinGen:CA150420C3696898 Autosomal dominant nocturnal frontal lobe epilepsy;
NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)1143CHRNB4Likely pathogenic-1RCV001848609; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282157892198978921989CT78921989-
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)1143CHRNB4Likely pathogenic-1RCV001848608; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282157892780778927807GA78927807-
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)1436CSF1RLikely pathogenicrs1757092904RCV001090101; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2825149433949149433949CT5:g.149433949C>T-
NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His)2066ERBB4Likely pathogenic-1RCV001848612; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2822212251724212251724CT212251724-
NM_018446.4(GLT8D1):c.393del (p.Lys131fs)55830GLT8D1Likely pathogenic-1RCV001848610; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28235273061252730612GTG52730611-
NM_002087.3(GRN):c.-173C>T2896GRNUncertain significancers886053004RCV000358975; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242253742422537CTNC_000017.10:g.42422537C>TClinGen:CA10639807C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.87dup (p.Cys30fs)2896GRNPathogenicrs794729672RCV000185614|RCV001852413; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262174242661742426618GGC17:g.42426617_42426618insCClinGen:CA275538C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.232dup (p.Ser78fs)2896GRNPathogenicrs1567885658RCV000736257; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242688642426887CCTNC_000017.10:g.42426887dup-
NM_002087.4(GRN):c.385dup (p.Ser129fs)2896GRNPathogenicrs1567886206RCV000736256; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242763042427631TTANC_000017.10:g.42427631dup-
NM_002087.4(GRN):c.388_391del (p.Gln130fs)2896GRNPathogenicrs63749801RCV000017384|RCV000084442|RCV000736253; NMONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242763142427634TAGTCT17:g.42427631_42427634delClinGen:CA225245,OMIM:138945.0006C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.393C>T (p.Phe131=)2896GRNConflicting interpretations of pathogenicityrs149180605RCV000349606|RCV002056604; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282; MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262174242763942427639CTNC_000017.10:g.42427639C>TClinGen:CA8601872C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.462+1G>C2896GRNPathogenicrs794729669RCV000185610; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242770942427709GC17:g.42427709G>CClinGen:CA275530C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs)2896GRNPathogenicrs1567886445RCV000736247; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242786942427870TTTGTGAAGACAGGGTGCACTGCTGTCNC_000017.10:g.42427869_42427870insTGTGAAGACAGGGTGCACTGCTGTC-
NM_002087.4(GRN):c.560del (p.Leu187fs)2896GRNPathogenicrs1567886478RCV000736254; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242790742427907CTCNC_000017.10:g.42427907del-
NM_002087.4(GRN):c.708+1G>A2896GRNPathogenic/Likely pathogenicrs63749817RCV000185615|RCV000503399|RCV000513518; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282|MedGen:CN517202174242816942428169GA17:g.42428169G>AClinGen:CA275539C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.759_760dup (p.Asp254fs)2896GRNPathogenicrs63751035RCV000736248; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242844842428449CCTGNC_000017.10:g.42428449TG[5]-
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)2896GRNPathogenicrs63751035RCV000084455|RCV000736250|RCV000995785; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282174242844942428450CTGC17:g.42428449_42428450delClinGen:CA225274CN517202 not provided;
NM_002087.4(GRN):c.776dup (p.Cys260fs)2896GRNPathogenicrs1567887015RCV000736251; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242847042428471TTANC_000017.10:g.42428472dup-
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)2896GRNPathogenicrs794729670RCV000185611|RCV001254078; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282174242877742428777TG17:g.42428777T>GClinGen:CA275531C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)2896GRNUncertain significancers754862784RCV000310685|RCV000720890; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenot174242910242429104CCCTCNC_000017.10:g.42429104TCC[1]ClinGen:CA8602103
NM_002087.4(GRN):c.1179G>A (p.Glu393=)2896GRNLikely pathogenicrs1567887777RCV000736255; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242916342429163GANC_000017.10:g.42429163G>A-
NM_002087.4(GRN):c.1212C>A (p.Cys404Ter)2896GRNPathogenicrs193026789RCV000185612; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242941542429415CA17:g.42429415C>AClinGen:CA275534C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1246dup (p.Cys416fs)2896GRNPathogenicrs794729671RCV000185613; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242944842429449GGT17:g.42429448_42429449insTClinGen:CA275537C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1446C>A (p.Cys482Ter)2896GRNPathogenicrs1567888461RCV000736252; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174242974142429741CANC_000017.10:g.42429741C>A-
NM_002137.4(HNRNPA2B1):c.965G>A (p.Gly322Glu)3181HNRNPA2B1Likely pathogenic-1RCV001810078; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28272623219726232197CT26232197-
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu)120892LRRK2Uncertain significancers762890407RCV000414857; NHuman Phenotype Ontology:HP:0002063,MedGen:C0026837; Human Phenotype Ontology:HP:0001300,MedGen:C0242422; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; Human Phenotype Ontology:HP:0012444,MedGen:C4551584124071709940717099TC12:g.40717099T>CClinGen:CA6514493C0235946 Brain atrophy;
NC_000017.10:g.(?_43861911)_(44159928_?)del4137MAPTUncertain significance-1RCV001918826; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174386191144159928nana-1-
NM_001377265.1(MAPT):c.-18+124C>G4137MAPTBenign-1RCV001518458; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174397217643972176CG43972176-
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)4137MAPTUncertain significance-1RCV002049876; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403971344039713CA44039713-
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys)4137MAPTConflicting interpretations of pathogenicityrs766166210RCV001123790|RCV001856632; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403971644039716CT17:g.44039716C>T-
NM_001377265.1(MAPT):c.14G>A (p.Arg5His)4137MAPTConflicting interpretations of pathogenicityrs63750959RCV000015330|RCV000266864; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239327174403971744039717GA17:g.44039717G>AClinGen:CA257191,UniProtKB:P10636#VAR_019660,OMIM:157140.0017C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.18G>A (p.Gln6=)4137MAPTLikely benign-1RCV002126868; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403972144039721GA44039721-
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)4137MAPTUncertain significance-1RCV001815827|RCV001869641; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403972844039728GA44039728-
NM_001377265.1(MAPT):c.36A>G (p.Glu12=)4137MAPTLikely benign-1RCV002178915; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403973944039739AG44039739-
NM_001377265.1(MAPT):c.42C>T (p.His14=)4137MAPTLikely benign-1RCV002119429; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403974544039745CT44039745-
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)4137MAPTUncertain significancers755131800RCV000662120|RCV000662118|RCV000662117|RCV000662119; NMONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:C4551862174403975044039750GT17:g.44039750G>T-C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met)4137MAPTBenign/Likely benignrs144611688RCV000874605|RCV002064770; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403975344039753CT17:g.44039753C>T-
NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe)4137MAPTUncertain significance-1RCV001874485; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403976344039763GC44039763-
NM_001377265.1(MAPT):c.62G>T (p.Gly21Val)4137MAPTUncertain significancers781076528RCV000821910; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403976544039765GT17:g.44039765G>T-
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)4137MAPTUncertain significance-1RCV001921514; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403978344039783GA44039783-
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)4137MAPTUncertain significancers374996228RCV001229146; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403979244039792CT17:g.44039792C>T-
NM_001377265.1(MAPT):c.117G>A (p.Thr39=)4137MAPTBenign/Likely benignrs63750529RCV000084500|RCV001512806; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403982044039820GA17:g.44039820G>AClinGen:CA225383C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.120C>T (p.Asp40=)4137MAPTBenign/Likely benignrs191362093RCV000861209|RCV001683670; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174403982344039823CT17:g.44039823C>T-
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)4137MAPTUncertain significance-1RCV001953160; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174403982444039824GA44039824-
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)4137MAPTBenign-1RCV001521462|RCV001685408; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174404926744049267CT44049267-
NM_001377265.1(MAPT):c.177G>C (p.Pro59=)4137MAPTLikely benign-1RCV001501480; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174404926844049268GC44049268-
NM_001377265.1(MAPT):c.177G>A (p.Pro59=)4137MAPTLikely benign-1RCV002160709; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174404926844049268GA44049268-
NM_001377265.1(MAPT):c.220+18C>T4137MAPTBenignrs75242405RCV000244111|RCV001610607|RCV001510733; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174404932944049329CT17:g.44049329C>TClinGen:CA8617555CN169374 not specified;
NM_001377265.1(MAPT):c.220+2451C>G4137MAPTUncertain significance-1RCV001973180; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405176244051762CG44051762-
NM_001377265.1(MAPT):c.220+2480G>A4137MAPTLikely benign-1RCV002088779; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405179144051791GA44051791-
NM_001377265.1(MAPT):c.220+2490G>A4137MAPTUncertain significancers371071165RCV000819677; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405180144051801GA17:g.44051801G>A-
NM_001377265.1(MAPT):c.220+2491C>T4137MAPTUncertain significancers780582778RCV000526140; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405180244051802CT17:g.44051802C>TClinGen:CA8617592C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.220+2503C>T4137MAPTConflicting interpretations of pathogenicityrs138293088RCV000803671|RCV001123792; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239327174405181444051814CT17:g.44051814C>T-
NM_001377265.1(MAPT):c.220+2535A>G4137MAPTBenignrs1800547RCV000249235|RCV000353232|RCV001636762|RCV001510734; NMedGen:CN169374|MedGen:CN239327|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405184644051846AG17:g.44051846A>GClinGen:CA8617602CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser)4137MAPTUncertain significance-1RCV001907887; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405575244055752GA44055752-
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp)4137MAPTUncertain significance-1RCV002027900; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405575344055753GA44055753-
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val)4137MAPTUncertain significance-1RCV001959824; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405575544055755AG44055755-
NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp)4137MAPTUncertain significance-1RCV001370898; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405577844055778AC44055778-
NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys)4137MAPTUncertain significancers373705830RCV001056904; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405578244055782GA17:g.44055782G>A-
NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly)4137MAPTUncertain significance-1RCV002020790; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405578644055786CG44055786-
NM_001377265.1(MAPT):c.273T>C (p.Gly91=)4137MAPTLikely benign-1RCV002171504; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174405579344055793TC44055793-
NM_001377265.1(MAPT):c.630_640del (p.Phe211fs)4137MAPTUncertain significancers768990943RCV000823327; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406057444060584GGCTTCCTCCGAG17:g.44060574_44060584del-
NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser)4137MAPTBenignrs151115928RCV000876539; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406058844060588CT17:g.44060588C>T-
NM_001377265.1(MAPT):c.756C>T (p.Asp252=)4137MAPTLikely benignrs1358418932RCV000922021|RCV001489706; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406070144060701CT17:g.44060701C>T-
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)4137MAPTBenignrs63750417RCV000084582|RCV000254223|RCV001510735; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406077544060775CT17:g.44060775C>TClinGen:CA225519CN517202 not provided;
NM_001377265.1(MAPT):c.841G>T (p.Ala281Ser)4137MAPTUncertain significancers1321460540RCV000700976; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406078644060786GT17:g.44060786G>T-C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.848del (p.Gly283fs)4137MAPTUncertain significancers773149360RCV000490460; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MedGen:C4551862; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406078944060789AGANC_000017.10:g.44060793delClinGen:CA8617709C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg)4137MAPTBenign/Likely benignrs76375268RCV000635212|RCV001591414; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174406080744060807GA17:g.44060807G>AClinGen:CA8617715C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)4137MAPTUncertain significancers150983093RCV000791003|RCV000791006|RCV000791004|RCV000791005|RCV001354954; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:C4551862|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282|MONDO:MONDO:0007803,MedGen:C0393571, Orphanet:102|MedGen:CN517202174406083444060834CA17:g.44060834C>A-
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly)4137MAPTConflicting interpretations of pathogenicityrs141120474RCV000761992|RCV001510129; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406084144060841TGNC_000017.10:g.44060841T>G-
NM_001377265.1(MAPT):c.912C>G (p.Pro304=)4137MAPTBenignrs142327009RCV000873779|RCV001766782; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174406085744060857CG17:g.44060857C>G-
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)4137MAPTBenignrs63750072RCV000084502|RCV000246243|RCV000555583; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406085944060859AG17:g.44060859A>GClinGen:CA225387C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.969A>C (p.Thr323=)4137MAPTLikely benignrs781607136RCV000877934|RCV001481300; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406091444060914AC17:g.44060914A>C-
NM_001377265.1(MAPT):c.973G>A (p.Ala325Thr)4137MAPTLikely benignrs770014302RCV000896437; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406091844060918GA17:g.44060918G>A-
NM_001377265.1(MAPT):c.1008G>A (p.Ala336=)4137MAPTUncertain significancers200385096RCV000635208; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406095344060953GA17:g.44060953G>AClinGen:CA8617755C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1023C>G (p.Pro341=)4137MAPTLikely benignrs1382449748RCV000540857; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406096844060968CG17:g.44060968C>GClinGen:CA500643712C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn)4137MAPTBenignrs62063786RCV000084503|RCV000251165|RCV001510736; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406102344061023GA17:g.44061023G>AClinGen:CA225389,UniProtKB:P10636#VAR_010340CN517202 not provided;
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)4137MAPTBenignrs63750222RCV000084504|RCV000254558|RCV001514000; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406102544061025CT17:g.44061025C>TClinGen:CA225391CN517202 not provided;
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)4137MAPTBenignrs62063787RCV000084505|RCV000244903|RCV001510737; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406103644061036TC17:g.44061036T>CClinGen:CA225393,UniProtKB:P10636#VAR_010341CN517202 not provided;
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)4137MAPTUncertain significancers377402921RCV000493800|RCV000764133; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683174406106044061060CT17:g.44061060C>TClinGen:CA8617779CN169374 not specified;
NM_001377265.1(MAPT):c.1137C>T (p.His379=)4137MAPTLikely benignrs142283842RCV000874004; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406108244061082CT17:g.44061082C>T-
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu)4137MAPTBenignrs73314997RCV000249877|RCV001517496|RCV001580035; NMedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174406112344061123CTNC_000017.10:g.44061123C>TClinGen:CA8617803CN169374 not specified;
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)4137MAPTBenignrs17651549RCV000241580|RCV001618407|RCV000989933; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406127844061278CT17:g.44061278C>TClinGen:CA8617840,UniProtKB:P10636#VAR_056121CN169374 not specified;
NM_001377265.1(MAPT):c.1351+5G>C4137MAPTUncertain significance-1RCV002221384; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406130144061301GC44061301-
NM_001377265.1(MAPT):c.1355G>A (p.Arg452His)4137MAPTUncertain significance-1RCV001947990; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406440944064409GA44064409-
NM_001377265.1(MAPT):c.1356C>A (p.Arg452=)4137MAPTLikely benignrs776028517RCV000635214; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406441044064410CANC_000017.10:g.44064410C>AClinGen:CA8617862C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn)4137MAPTUncertain significance-1RCV001928505; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406441844064418GA44064418-
NM_001377265.1(MAPT):c.1366A>G (p.Lys456Glu)4137MAPTUncertain significance-1RCV001959768; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406442044064420AG44064420-
NM_001377265.1(MAPT):c.1407+18C>T4137MAPTLikely benign-1RCV002156506; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406447944064479CT44064479-
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys)4137MAPTLikely benignrs986393575RCV000942546|RCV001503794; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406725344067253CT17:g.44067253C>T-
NM_001377265.1(MAPT):c.1453C>T (p.Leu485Phe)4137MAPTLikely benignrs199759929RCV000964742|RCV001393993; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406728944067289CT17:g.44067289C>T-
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)4137MAPTConflicting interpretations of pathogenicityrs143956882RCV000585116|RCV000989934; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406734144067341CT17:g.44067341C>TClinGen:CA8617915C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His)4137MAPTBenignrs2258689RCV000084507|RCV000246568|RCV001514001; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406738244067382TC17:g.44067382T>CClinGen:CA225397,UniProtKB:P10636#VAR_010342CN517202 not provided;
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)4137MAPTBenignrs10445337RCV000084508|RCV000251494|RCV000989935; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406740044067400TC17:g.44067400T>CClinGen:CA225399,UniProtKB:P10636#VAR_010343CN517202 not provided;
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu)4137MAPTUncertain significancers116231676RCV001346710; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406882744068827GA44068827-
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=)4137MAPTLikely benignrs139748238RCV000544124; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406884344068843GANC_000017.10:g.44068843G>AClinGen:CA8617959C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr)4137MAPTLikely benignrs114635790RCV000635213; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406884844068848TCNC_000017.10:g.44068848T>CClinGen:CA8617960C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met)4137MAPTUncertain significancers759212591RCV001299120; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406884944068849CG44068849-
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=)4137MAPTLikely benign-1RCV002115268; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406884944068849CT44068849-
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)4137MAPTConflicting interpretations of pathogenicityrs143624519RCV000356485|RCV000532567|RCV001531268; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174406885044068850GANC_000017.10:g.44068850G>AClinGen:CA8617962C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1638G>A (p.Pro546=)4137MAPTBenign/Likely benignrs201046056RCV000273482|RCV000635210; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406885844068858GANC_000017.10:g.44068858G>AClinGen:CA8617965C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu)4137MAPTUncertain significance-1RCV002011386; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406887244068872CT44068872-
NM_001377265.1(MAPT):c.1703C>T (p.Pro568Leu)4137MAPTUncertain significancers1273925499RCV001240473; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406892344068923CT17:g.44068923C>T-
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=)4137MAPTBenignrs1052551RCV000084509|RCV000243513|RCV000330758|RCV001510738; NMedGen:CN517202|MedGen:CN169374|MedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406892444068924GA17:g.44068924G>AClinGen:CA225401CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=)4137MAPTLikely benign-1RCV002121143; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406892444068924GT44068924-
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=)4137MAPTLikely benignrs750910229RCV000920629; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406892744068927CT17:g.44068927C>T-
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)4137MAPTBenignrs63750612RCV000084510|RCV000387650|RCV000246861|RCV001079276; NMedGen:CN517202|MedGen:CN239327|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406892844068928GA17:g.44068928G>AClinGen:CA225403CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1732+8_1732+10del4137MAPTLikely benign-1RCV002161293; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174406895544068957TAAGT44068954-
NM_001377265.1(MAPT):c.1732+2342T>C4137MAPTBenignrs62063845RCV000084511|RCV000251813|RCV001510739; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407129444071294TC17:g.44071294T>CClinGen:CA225405CN517202 not provided;
NM_001377265.1(MAPT):c.1732+2364C>T4137MAPTBenignrs187760483RCV000861531|RCV001692298; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174407131644071316CT17:g.44071316C>T-
NM_001377265.1(MAPT):c.1732+2367C>G4137MAPTBenignrs267604921RCV000954051; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407131944071319CG17:g.44071319C>G-
NM_001377265.1(MAPT):c.1733-14T>C4137MAPTLikely benign-1RCV002215329; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407375144073751TC44073751-
NM_001377265.1(MAPT):c.1733-12C>T4137MAPTLikely benign-1RCV002198404; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407375344073753CT44073753-
NM_001377265.1(MAPT):c.1733-3del4137MAPTUncertain significancers2074473044RCV001235651; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407376044073760TCT17:g.44073760_44073760del-
NM_001377265.1(MAPT):c.1749_1750del (p.Asp585fs)4137MAPTUncertain significance-1RCV002011346; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407378144073782CAGC44073780-
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=)4137MAPTLikely benign-1RCV002108786; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407379944073799CT44073799-
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=)4137MAPTBenign/Likely benignrs201057449RCV001128498|RCV001395763; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407380844073808CT17:g.44073808C>T-
NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys)4137MAPTConflicting interpretations of pathogenicityrs138984221RCV001128499|RCV001856676; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407383344073833CT17:g.44073833C>T-
NM_001377265.1(MAPT):c.1802G>A (p.Arg601His)4137MAPTConflicting interpretations of pathogenicityrs115492908RCV000635209|RCV001128500; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239327174407383444073834GA17:g.44073834G>AClinGen:CA8618037C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)4137MAPTUncertain significance-1RCV001938426; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407383944073839CT44073839-
NM_001377265.1(MAPT):c.1808G>A (p.Arg603His)4137MAPTUncertain significance-1RCV001944992; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407384044073840GA44073840-
NM_001377265.1(MAPT):c.1811C>A (p.Thr604Asn)4137MAPTUncertain significancers763356972RCV001300291; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407384344073843CA44073843-
NM_001377265.1(MAPT):c.1814C>T (p.Pro605Leu)4137MAPTUncertain significance-1RCV001808995; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407384644073846CT44073846-
NM_001377265.1(MAPT):c.1831C>T (p.Pro611Ser)4137MAPTUncertain significancers1598326219RCV000793907; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407386344073863CT17:g.44073863C>T-
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro)4137MAPTUncertain significancers1598326279RCV000989936; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407386644073866AC17:g.44073866A>C-
NM_001377265.1(MAPT):c.1854G>A (p.Val618=)4137MAPTLikely benign-1RCV002218869; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407388644073886GA44073886-
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)4137MAPTBenignrs1052553RCV000084512|RCV000295833|RCV000243822|RCV001510740; NMedGen:CN517202|MedGen:CN239327|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407388944073889AG17:g.44073889A>GClinGen:CA225407CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=)4137MAPTLikely benign-1RCV002178407; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407389844073898TC44073898-
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)4137MAPTLikely benign-1RCV001459077; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407391344073913GA44073913-
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=)4137MAPTConflicting interpretations of pathogenicityrs145897970RCV000658785|RCV002060787; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407391644073916GA17:g.44073916G>A-CN517202 not provided;
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)4137MAPTConflicting interpretations of pathogenicityrs63750096RCV000084513|RCV000325065|RCV000805364; NMedGen:CN517202|MedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407392344073923GANC_000017.10:g.44073923G>AClinGen:CA225409CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1918G>A (p.Val640Met)4137MAPTUncertain significance-1RCV002001707; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407395044073950GA44073950-
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=)4137MAPTBenign/Likely benignrs141636979RCV000712259|RCV001128501|RCV002060888; NMedGen:CN517202|MedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407397044073970GANC_000017.10:g.44073970G>A-
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)4137MAPTBenignrs17652121RCV000084514|RCV000382118|RCV000248783|RCV001510741; NMedGen:CN517202|MedGen:CN239327|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407397344073973TC17:g.44073973T>CClinGen:CA225411CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=)4137MAPTLikely benign-1RCV001446991; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407398844073988CT44073988-
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)4137MAPTPathogenicrs63750349RCV000015336|RCV000084517; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174407400444074004CG17:g.44074004C>GClinGen:CA225417,UniProtKB:P10636#VAR_019662,OMIM:157140.0022C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=)4137MAPTBenign/Likely benignrs373081497RCV000290067|RCV000970516; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407400644074006GANC_000017.10:g.44074006G>AClinGen:CA8618065CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu)4137MAPTUncertain significancers2074495003RCV001226581; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407401444074014AT17:g.44074014A>T-
NM_001377265.1(MAPT):c.1985C>T (p.Pro662Leu)4137MAPTUncertain significancers1047467075RCV001240818; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407401744074017CT17:g.44074017C>T-
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)4137MAPTBenignrs11568305RCV000084518|RCV000347983|RCV000253733|RCV000554260; NMedGen:CN517202|MedGen:CN239327|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407401844074018GA17:g.44074018G>AClinGen:CA225419C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val)4137MAPTPathogenicrs63750376RCV000015315|RCV000084519; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174407402344074023GT17:g.44074023G>TClinGen:CA225421,UniProtKB:P10636#VAR_010345,OMIM:157140.0002C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1998+15C>T4137MAPTLikely benign-1RCV002157805; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174407404544074045CT44074045-
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)4137MAPTPathogenicrs63750756RCV000015322|RCV000084521|RCV000763404; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:16174408769044087690TG17:g.44087690T>GClinGen:CA225424,UniProtKB:P10636#VAR_010346,OMIM:157140.0009C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)4137MAPTConflicting interpretations of pathogenicityrs63750688RCV000084522|RCV000695531; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174408769144087693TAAGT17:g.44087691_44087693delClinGen:CA225429C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=)4137MAPTLikely benign-1RCV001430919; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174408771144087711CT44087711-
NM_001377265.1(MAPT):c.2035G>A (p.Val679Ile)4137MAPTUncertain significancers149280278RCV001235829; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174408771244087712GA17:g.44087712G>A-
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)4137MAPTPathogenicrs63750912RCV000015326|RCV000084525; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174408774144087741TC17:g.44087741T>COMIM:157140.0013,ClinGen:CA225434C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)4137MAPTBenign/Likely benign-1RCV001680629|RCV002073198; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174408775144087751GA44087751-
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)4137MAPTPathogenicrs63751438RCV000015325|RCV000084526; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174408775444087754CT17:g.44087754C>TClinGen:CA225439,UniProtKB:P10636#VAR_010349,OMIM:157140.0012C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)4137MAPTPathogenicrs63751273RCV000015314|RCV000015313|RCV000084527|RCV000763405; NMedGen:C4551862|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:174408775544087755CT17:g.44087755C>TClinGen:CA225444,UniProtKB:P10636#VAR_010348,OMIM:157140.0001C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn)4137MAPTPathogenicrs63751165RCV000015323|RCV000084530; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174408776744087767GA17:g.44087767G>AClinGen:CA225453,UniProtKB:P10636#VAR_010350,OMIM:157140.0010C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)4137MAPTPathogenic/Likely pathogenicrs63750568RCV000084531|RCV000989937; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174408776844087768TC17:g.44087768T>CClinGen:CA225458CN517202 not provided;
NM_001377265.1(MAPT):c.2091+1G>A4137MAPTPathogenicrs1568327531RCV000015320; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174408776944087769GA17:g.44087769G>AOMIM:157140.0007C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2091+11T>C4137MAPTPathogenicrs63751394RCV000015333|RCV000084533; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174408777944087779TC17:g.44087779T>CClinGen:CA225461,OMIM:157140.0020CN517202 not provided;
NM_001377265.1(MAPT):c.2091+13A>G4137MAPTPathogenicrs63750308RCV000015318|RCV000084535; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174408778144087781AG17:g.44087781A>GClinGen:CA225463,OMIM:157140.0005CN517202 not provided;
NM_001377265.1(MAPT):c.2091+14C>T4137MAPTPathogenicrs63750972RCV000015317|RCV000084536; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174408778244087782CT17:g.44087782C>TClinGen:CA225464,OMIM:157140.0004C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2091+29G>A4137MAPTBenign/Likely benignrs63751443RCV000084540|RCV001081972|RCV001725968; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN169374174408779744087797GA17:g.44087797G>AClinGen:CA225468C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met)4137MAPTPathogenicrs63750092RCV000015338|RCV000084543; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174409164344091643AT17:g.44091643A>TClinGen:CA225473,UniProtKB:P10636#VAR_037440,OMIM:157140.0024C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)4137MAPTPathogenicrs63750635RCV000015331|RCV000084544|RCV000995804; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409165244091652CT17:g.44091652C>TClinGen:CA225475,UniProtKB:P10636#VAR_019665,OMIM:157140.0018CN517202 not provided;
NM_001377265.1(MAPT):c.2173G>T (p.Gly725Ter)4137MAPTUncertain significancers2076012350RCV001235615; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409169044091690GT17:g.44091690G>T-
NM_001377265.1(MAPT):c.2173+9G>C4137MAPTConflicting interpretations of pathogenicityrs979650971RCV001122793|RCV002070007; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409169944091699GC17:g.44091699G>C-
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)4137MAPTConflicting interpretations of pathogenicityrs1598408073RCV000823456; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409599444095994GC17:g.44095994G>C-
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)4137MAPTPathogenicrs63750570RCV000015321|RCV000084548; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174409599544095995GA17:g.44095995G>AClinGen:CA225483,UniProtKB:P10636#VAR_010351,OMIM:157140.0008C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val)4137MAPTPathogenicrs63750711RCV000015327|RCV000084549; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202174409601144096011AT17:g.44096011A>TClinGen:CA225485,UniProtKB:P10636#VAR_019666,OMIM:157140.0014C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg)4137MAPTLikely pathogenicrs1568339821RCV000736258; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409603844096038AGNC_000017.10:g.44096038A>G-
NM_001377265.1(MAPT):c.2262C>T (p.His754=)4137MAPTLikely benign-1RCV002210323; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409607244096072CT44096072-
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)4137MAPTConflicting interpretations of pathogenicityrs63750869RCV000084551|RCV000692998; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409607344096073GA17:g.44096073G>AClinGen:CA225490C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr)4137MAPTLikely pathogenicrs1598408336RCV000995805; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409607644096076CA17:g.44096076C>A-
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=)4137MAPTConflicting interpretations of pathogenicityrs148501218RCV000284697|RCV001421102; NMedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409608144096081CTNC_000017.10:g.44096081C>TClinGen:CA8618231CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.2286+6G>T4137MAPTUncertain significancers2076343277RCV001340909; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174409610244096102GT44096102-
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=)4137MAPTUncertain significancers373462041RCV000699959; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410134844101348CTNC_000017.10:g.44101348C>T-C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=)4137MAPTLikely benign-1RCV001450330; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410134844101348CA44101348-
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)4137MAPTPathogenic/Likely pathogenicrs63750512RCV000015324|RCV000517183|RCV001851871; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410137644101376GA17:g.44101376G>AClinGen:CA257189,UniProtKB:P10636#VAR_010352,OMIM:157140.0011CN517202 not provided;
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr)4137MAPTUncertain significance-1RCV001866334; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410137944101379GA44101379-
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=)4137MAPTLikely benign-1RCV002217957; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410138144101381GA44101381-
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)4137MAPTConflicting interpretations of pathogenicityrs377720312RCV000488020|RCV001122795|RCV002063827; NMedGen:CN517202|MedGen:CN239327|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410139944101399GA17:g.44101399G>AClinGen:CA8618258CN517202 not provided;
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)4137MAPTPathogenicrs63750424RCV000015316|RCV000084554|RCV000763406; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:16174410142744101427CT17:g.44101427C>TClinGen:CA225495,UniProtKB:P10636#VAR_010353,OMIM:157140.0003C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2406T>C (p.Asn802=)4137MAPTBenignrs115381139RCV000873732; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410144144101441TC17:g.44101441T>C-
NM_001377265.1(MAPT):c.2418C>T (p.Thr806=)4137MAPTLikely benign-1RCV001422462; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410145344101453CT44101453-
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn)4137MAPTUncertain significance-1RCV001907979; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410146344101463GA44101463-
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys)4137MAPTUncertain significancers63750191RCV000084555|RCV001857413; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410148144101481CA17:g.44101481C>AClinGen:CA225498CN517202 not provided;
NM_001377265.1(MAPT):c.2451C>T (p.Leu817=)4137MAPTLikely benign-1RCV002163692; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282174410148644101486CT44101486-
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu)57574MARCHF4Uncertain significancers756981946RCV000590974; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2822217148338217148338TCNC_000002.11:g.217148338T>CClinGen:CA2097378C0338451 600274 Frontotemporal dementia;
NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys)57574MARCHF4Likely benignrs145386484RCV000590979; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2822217234945217234945CG2:g.217234945C>GClinGen:CA2097508C0338451 600274 Frontotemporal dementia;
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT-1MASP2;TARDBPBenignrs3059695RCV000267829|RCV000353235|RCV000394679; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:33118711108500411085005AATGTTTNC_000001.10:g.11085005_11085006insGTTTTClinGen:CA10607486CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*2331A>G-1MASP2;TARDBPBenign/Likely benignrs114897688RCV000309062|RCV000322945|RCV000377600|RCV001098078; NMONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239175|MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069, Orphanet:275872, Orphanet:80311108504211085042AGNC_000001.10:g.11085042A>GClinGen:CA10607316CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.*225T>C-1MASP2;TARDBPBenignrs1033638RCV000368372|RCV000392886|RCV000400242; NMedGen:CN239175|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108671711086717AGNC_000001.10:g.11086717A>GClinGen:CA10607320CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.*184C>T-1MASP2;TARDBPLikely benignrs115750484RCV000369417|RCV000314809|RCV001101863; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:33118711108675811086758GA1:g.11086758G>AClinGen:CA10654420CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.1617T>C (p.Asn539=)-1MASP2;TARDBPBenign/Likely benignrs72550845RCV000260724|RCV000316368|RCV000333994|RCV000963738; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187|MedGen:CN51720211108738611087386AG1:g.11087386A>GClinGen:CA586632CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.1479C>T (p.Ser493=)-1MASP2;TARDBPBenignrs1782455RCV000262387|RCV000294328|RCV000357134|RCV000455702; NMedGen:CN239175|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN16937411108752411087524GA1:g.11087524G>AClinGen:CA586657CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_002397.5(MEF2C):c.-208del4208MEF2CUncertain significancers886060864RCV000359333|RCV000490253|RCV000490443; NMedGen:CN239216|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28258817883788178837GAGNC_000005.9:g.88178846delClinGen:CA10622455C0338451 600274 Frontotemporal dementia;
NM_001131005.2(MEF2C):c.-143+4180_-143+4193del4208MEF2CLikely pathogenicrs1085307051RCV000490370; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28258817912688179139GGAGGAGGAGGAAGAG5:g.88179126_88179139delClinGen:CA645293867C0338451 600274 Frontotemporal dementia;
NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)10133OPTNLikely pathogenic-1RCV001848606; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282101315234313152343AG13152343-
NM_000306.4(POU1F1):c.*213=-1POU1F1;CHMP2BBenignrs6792500RCV000280492|RCV000407251|RCV001618616; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:CN51720238730883187308831CT3:g.87308831C>TClinGen:CA10616748CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*140A>T-1POU1F1;CHMP2BBenign/Likely benignrs33936108RCV000308985|RCV000337782|RCV001150054|RCV001643050; NMedGen:CN239344|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:CN51720238730890487308904TA3:g.87308904T>AClinGen:CA10616753CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*138T>A-1POU1F1;CHMP2BBenign/Likely benignrs190287993RCV000306488|RCV000316447|RCV001143924|RCV001643051; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239344|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:CN51720238730890687308906AT3:g.87308906A>TClinGen:CA10616756CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.666-5G>A-1POU1F1;CHMP2BBenign/Likely benignrs76296626RCV000179288|RCV000281196|RCV000363552|RCV000712842|RCV001143926; NMedGen:CN169374|MedGen:CN239344|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN517202|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:61303838730925987309259CT3:g.87309259C>TClinGen:CA203213CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000021.3(PSEN1):c.-528C>G5663PSEN1Benignrs34086577RCV000559201|RCV001516352; NMedGen:CN517202|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02147360289973602899CG14:g.73602899C>GClinGen:CA262598192C3151038 613737 Acne inversa, familial, 3;
NC_000014.8:g.73603082del5663PSEN1Benign-1RCV001518793; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147360308273603082GCG73603081-
NM_000021.4(PSEN1):c.88-7C>T5663PSEN1Likely benignrs1594997672RCV000940776|RCV001491480; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:00133147363749873637498CT14:g.73637498C>T-
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)5663PSEN1Uncertain significancers746691776RCV001090096; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MeSH:D000544,MedGen:C0750901147363752073637520CT14:g.73637520C>T-
NM_000021.4(PSEN1):c.118_120del (p.Asp40del)5663PSEN1Uncertain significance-1RCV002004172; NMONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147363753373637535AACGA73637532-
NM_000021.4(PSEN1):c.138C>T (p.His46=)5663PSEN1Benign-1RCV001513571; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147363755573637555CT73637555-
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)5663PSEN1Likely benign-1RCV002088756; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822147363756273637562CG73637562-
NM_000021.4(PSEN1):c.177C>T (p.Ser59=)5663PSEN1Likely benign-1RCV002110042; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147363759473637594CT73637594-
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp)5663PSEN1Uncertain significancers777427451RCV001296368; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147363759573637595CT73637595-
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)5663PSEN1Pathogenicrs63749824RCV000019787|RCV000084281|RCV000529477; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00119147363765373637653CT14:g.73637653C>TClinGen:CA224983,UniProtKB:P49768#VAR_006413,OMIM:104311.0035C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)5663PSEN1Uncertain significancers1897874234RCV001208063; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147363767973637679CA14:g.73637679C>A-
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)5663PSEN1Pathogenicrs1897874329RCV001261949; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282147363768073637680CG14:g.73637680C>G-
NM_000021.4(PSEN1):c.264T>C (p.Pro88=)5663PSEN1Likely benign-1RCV001476967; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147363768173637681TC73637681-
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)5663PSEN1Uncertain significancers1007193620RCV001043730; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147363768673637686CG14:g.73637686C>G-
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)5663PSEN1Uncertain significancers63750831RCV000084287|RCV001854471; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147363769773637697GA14:g.73637697G>AClinGen:CA224990CN517202 not provided;
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)5663PSEN1Uncertain significancers1897876766RCV001230382; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147363772573637725TG14:g.73637725T>G-
NM_000021.4(PSEN1):c.321C>G (p.Thr107=)5663PSEN1Benignrs139863395RCV000712870|RCV001081579; NMedGen:CN517202|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02147363773873637738CGNC_000014.8:g.73637738C>G-
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)5663PSEN1Likely pathogenicrs63751399RCV000019775|RCV000020084|RCV000084292|RCV001228362; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:6147363775573637755TC14:g.73637755T>CClinGen:CA224998,UniProtKB:P49768#VAR_016215,OMIM:104311.0023C1843013 607822 Alzheimer disease, type 3;
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)5663PSEN1Pathogenic/Likely pathogenicrs63750450RCV000084295|RCV000640610|RCV001199924; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147364027973640279AG14:g.73640279A>GClinGen:CA225002,UniProtKB:P49768#VAR_006416C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)5663PSEN1Likely pathogenicrs1566630791RCV000782176|RCV001196175; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282147364029173640291CT14:g.73640291C>T-
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)5663PSEN1Likely pathogenicrs1566630811RCV000736265; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282147364029973640299AGNC_000014.8:g.73640299A>G-
NM_000021.4(PSEN1):c.366C>T (p.Thr122=)5663PSEN1Likely benignrs201644344RCV000873640; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147364030173640301CT14:g.73640301C>T-
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)5663PSEN1Uncertain significancers1595002439RCV000823608; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147364033673640336TG14:g.73640336T>G-
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)5663PSEN1Likely pathogenicrs63750353RCV000084302|RCV001854472; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147364033873640338AG14:g.73640338A>GClinGen:CA225012,UniProtKB:P49768#VAR_010121CN517202 not provided;
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)5663PSEN1Pathogenic/Likely pathogenicrs63751278RCV000084303|RCV000824341; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147364033973640339AGNC_000014.8:g.73640339A>GClinGen:CA225013CN517202 not provided;
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)5663PSEN1Likely pathogenicrs1566630884RCV000736260; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282147364034473640344GANC_000014.8:g.73640344G>A-
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)5663PSEN1Pathogenicrs63750004RCV000084308|RCV001071503; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147364036373640363TC14:g.73640363T>CClinGen:CA225019,UniProtKB:P49768#VAR_006424CN517202 not provided;
NM_000021.4(PSEN1):c.435C>T (p.Val145=)5663PSEN1Likely benign-1RCV001481363; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147364037073640370CT73640370-
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)5663PSEN1Pathogenicrs63750306RCV000019751|RCV001248367; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C18430147364037173640371AC14:g.73640371A>CClinGen:CA341490,UniProtKB:P49768#VAR_006426,OMIM:104311.0001C1843013 607822 Alzheimer disease, type 3;
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)5663PSEN1Pathogenicrs63750391RCV000084311|RCV001854473; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147364037373640373GT14:g.73640373G>TClinGen:CA225023,UniProtKB:P49768#VAR_006425CN517202 not provided;
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)5663PSEN1Uncertain significance-1RCV001878087; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147364037773640377AG73640377-
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)5663PSEN1Uncertain significancers1897961716RCV001067591; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147364041073640410TC14:g.73640410T>C-
NM_000021.4(PSEN1):c.480+17G>A5663PSEN1Likely benign-1RCV002177731; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147364043273640432GA73640432-
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile)5663PSEN1Uncertain significancers1898533490RCV001315317; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365356173653561GA73653561-
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)5663PSEN1Uncertain significancers1898533739RCV001070299; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365356573653565TG14:g.73653565T>G-
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)5663PSEN1Pathogenicrs63750590RCV000019752|RCV000084318|RCV000534810; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00119147365356873653568AG14:g.73653568A>GClinGen:CA225034,UniProtKB:P49768#VAR_006428,OMIM:104311.0002C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.501T>C (p.Ile167=)5663PSEN1Likely benign-1RCV002211723; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147365358173653581TC73653581-
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)5663PSEN1Uncertain significancers63750577RCV001047251; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365358973653589CA14:g.73653589C>A-
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del)5663PSEN1Uncertain significancers1595026031RCV000850226; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020147365359473653596ATTGA14:g.73653594_73653596del-
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)5663PSEN1Uncertain significancers63750155RCV000084334|RCV000640607; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147365361273653612TC14:g.73653612T>CClinGen:CA225059,UniProtKB:P49768#VAR_075265C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.549-19C>A5663PSEN1Likely benign-1RCV002162588; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147365933373659333CA73659333-
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)5663PSEN1Pathogenicrs63750311RCV000084336|RCV001857411; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147365935573659355AC14:g.73659355A>CClinGen:CA225063CN517202 not provided;
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)5663PSEN1Uncertain significance-1RCV001917495; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365936373659363AC73659363-
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)5663PSEN1Uncertain significance-1RCV001961930; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147365937473659374GA73659374-
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)5663PSEN1Pathogenicrs63750053RCV000084340|RCV000640604; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147365942973659429GT14:g.73659429G>TClinGen:CA225070,UniProtKB:P49768#VAR_006433C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)5663PSEN1Likely pathogenicrs63750053RCV000821428; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365942973659429GA14:g.73659429G>A-
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)5663PSEN1Likely pathogenicrs1555355250RCV000712873|RCV001055042; NMedGen:CN517202|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02147365943873659438CANC_000014.8:g.73659438C>A-
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)5663PSEN1Pathogenic-1RCV001900646; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147365944373659443CA73659443-
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)5663PSEN1Likely pathogenicrs267606983RCV000019789|RCV001377214; NMedGen:C4015781|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:00133147365945273659452GC14:g.73659452G>CClinGen:CA127843,OMIM:104311.0037C4015781 Alzheimer disease, familial, 3, with unusual plaques;
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys)5663PSEN1Uncertain significancers1898776259RCV001350081; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365947073659470CA73659470-
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)5663PSEN1Likely pathogenicrs63749836RCV000084352|RCV000763347; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013371,MedGen:C3160720,OMIM:613694, Orphanet:154; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:001339147365949473659494GA14:g.73659494G>AClinGen:CA225090,UniProtKB:P49768#VAR_006435CN517202 not provided;
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)5663PSEN1Pathogenic/Likely pathogenicrs63751287RCV000020086|RCV000712874|RCV000818883; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013147365950073659500AGNC_000014.8:g.73659500A>GClinGen:CA341527C1843013 607822 Alzheimer disease, type 3;
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)5663PSEN1Pathogenicrs63750526RCV000019753|RCV000084361|RCV000542870; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00119147365954073659540CA14:g.73659540C>AClinGen:CA225104,UniProtKB:P49768#VAR_006439,OMIM:104311.0003C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)5663PSEN1Likely pathogenicrs1362575880RCV001289155|RCV001378264; NMedGen:CN517202|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133147365954873659548AC73659548-
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)5663PSEN1Likely pathogenic-1RCV001980594; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365954873659548AT73659548-
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)5663PSEN1Pathogenic-1RCV002037964; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147365955373659553GT73659553-
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)5663PSEN1Conflicting interpretations of pathogenicityrs150301281RCV000896851|RCV001115471|RCV001115472; NMONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822147366476173664761GT14:g.73664761G>T-
NM_000021.4(PSEN1):c.798T>A (p.Gly266=)5663PSEN1Likely benign-1RCV001453064; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147366476773664767TA73664767-
NM_000021.4(PSEN1):c.801A>G (p.Pro267=)5663PSEN1Likely benign-1RCV002114861; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147366477073664770AG73664770-
NM_000021.4(PSEN1):c.813G>T (p.Leu271=)5663PSEN1Likely benignrs757698754RCV000931407|RCV001505453; NMedGen:CN517202|MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0011913,MedGen:C184147366478273664782GT14:g.73664782G>T-
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg)5663PSEN1Uncertain significancers63750284RCV000084378|RCV001857412; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147366479073664790CG14:g.73664790C>GClinGen:CA225127,UniProtKB:P49768#VAR_075271CN517202 not provided;
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys)5663PSEN1Pathogenic-1RCV001949489; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147366480773664807GA73664807-
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)5663PSEN1Pathogenicrs63750231RCV000019759|RCV000701892; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C18430147366480873664808AC14:g.73664808A>CClinGen:CA341491,UniProtKB:P49768#VAR_006450,OMIM:104311.0009C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.843G>C (p.Thr281=)5663PSEN1Benign-1RCV001509906; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147366481273664812GC73664812-
NM_000021.4(PSEN1):c.868+16G>T5663PSEN1Benignrs165932RCV000250323|RCV001513933|RCV001682946|RCV001789237|RCV001789238|RCV001789239|RCV001789240|RCV001789241; NMedGen:CN169374|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133147366485373664853GT14:g.73664853G>TClinGen:CA7256838CN169374 not specified;
NC_000014.8:g.(?_73673074)_(73673200_?)del5663PSEN1Pathogenic-1RCV001958815; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147367307473673200nana-1-
NM_000021.4(PSEN1):c.869-3C>A5663PSEN1Uncertain significance-1RCV001875732; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147367309173673091CA73673091-
NM_000021.4(PSEN1):c.869-2A>T5663PSEN1Pathogenicrs1566650594RCV000703026; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147367309273673092AT14:g.73673092A>T-C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.909G>A (p.Pro303=)5663PSEN1Likely benign-1RCV002095667; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147367313473673134GA73673134-
NM_000021.4(PSEN1):c.918A>C (p.Gln306His)5663PSEN1Uncertain significance-1RCV001968059; NMONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147367314373673143AC73673143-
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)5663PSEN1Uncertain significance-1RCV001965128; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147367318073673180AT73673180-
NM_000021.4(PSEN1):c.956-20A>C5663PSEN1Likely benign-1RCV002098681; NMONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147367845773678457AC73678457-
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)5663PSEN1Uncertain significancers63751174RCV000518371|RCV001314550; NMedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C02147367859473678594GC14:g.73678594G>CClinGen:CA262618753CN169374 not specified;
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)5663PSEN1Uncertain significancers199715992RCV000797696|RCV001116884|RCV001116885; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147367859973678599GA14:g.73678599G>A-
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu)5663PSEN1Uncertain significance-1RCV001864898; NMONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147367860273678602GC73678602-
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)5663PSEN1Pathogenic-1RCV002014803; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147367865073678650AT73678650-
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)5663PSEN1Conflicting interpretations of pathogenicityrs63750227RCV000084406|RCV000811198; NMedGen:CN517202|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184147368392973683929GANC_000014.8:g.73683929G>AClinGen:CA225173,UniProtKB:P49768#VAR_009213CN517202 not provided;
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)5663PSEN1Pathogenicrs661RCV000019755|RCV000084407|RCV000640605; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00119147368393373683933GA14:g.73683933G>AClinGen:CA225174,UniProtKB:P49768#VAR_006458,OMIM:104311.0005C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val)5663PSEN1Uncertain significancers777734426RCV001324627; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147368394473683944AG73683944-
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)5663PSEN1Pathogenicrs63751316RCV001049005; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147368584773685847GC14:g.73685847G>C-
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)5663PSEN1Likely pathogenicrs63751223RCV000019766|RCV000084411|RCV000763348; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020|MedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133147368586973685869GC14:g.73685869G>CClinGen:CA225181,UniProtKB:P49768#VAR_006459,OMIM:104311.0014C1843013 607822 Alzheimer disease, type 3;
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)5663PSEN1Conflicting interpretations of pathogenicity-1RCV001873794|RCV001810077; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822147368587273685872AG73685872-
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)5663PSEN1Uncertain significancers764971634RCV001289154|RCV001871727; NMedGen:CN517202|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133147368590273685902AG73685902-
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)5663PSEN1Uncertain significancers1900050658RCV001058511; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147368591273685912CA14:g.73685912C>A-
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=)5663PSEN1Likely benign-1RCV002152736; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0013398,MedGen:C31510147368594073685940AG73685940-
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)5663PSEN1Uncertain significance-1RCV002043451; NMONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:17270147368597073685970AG73685970-
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)23064SETXUncertain significancers764920626RCV000713215|RCV001849076|RCV001165734|RCV001169728|RCV001861986; NMedGen:CN517202|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043|MONDO:MONDO:09135202313135202313TCNC_000009.11:g.135202313T>C-
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)23064SETXLikely pathogenic-1RCV001848614; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2829135205871135205871TG135205871-
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)23064SETXLikely pathogenic-1RCV001848607; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:2829135211763135211763GA135211763-
NM_007375.4(TARDBP):c.-12-10_-12-9del23435TARDBPLikely benignrs575825467RCV000265462|RCV000360165; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211107376111073762CTTCNC_000001.10:g.11073763_11073764delClinGen:CA586296CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)23435TARDBPBenign/Likely benignrs148325203RCV000353305|RCV000392664|RCV000518153|RCV000875373|RCV001096237; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239175|MedGen:CN169374|MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069, Orphanet:275872, Orphanet:803; MedGen:C3150169|MONDO:MONDO:0012790,MedGen:C26711108256411082564CGNC_000001.10:g.11082564C>GClinGen:CA586484CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)23435TARDBPLikely pathogenicrs1570725499RCV000986235; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108259511082595TC1:g.11082595T>C-
NM_007375.4(TARDBP):c.*208G>A23435TARDBPBenign/Likely benignrs148414479RCV000269531|RCV000364084|RCV001097985|RCV001555101; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN239175|MONDO:MONDO:0012790,MedGen:C2677565,OMIM:612069, Orphanet:275872, Orphanet:803|MedGen:CN51720211108291911082919GANC_000001.10:g.11082919G>AClinGen:CA10607296CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*505del23435TARDBPUncertain significancers886045038RCV000294216|RCV000330501; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108321311083213CACNC_000001.10:g.11083216delClinGen:CA10607397CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*1597_*1600del23435TARDBPUncertain significancers748047297RCV000274024|RCV000368674; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108430611084309ATTTGANC_000001.10:g.11084308_11084311delClinGen:CA10607302CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*1633del23435TARDBPUncertain significancers886045043RCV000261200|RCV000316450; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108433411084334ATANC_000001.10:g.11084344delClinGen:CA10607309CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*2538del23435TARDBPUncertain significancers886045050RCV000344401|RCV000389658; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108524811085248GCGNC_000001.10:g.11085249delClinGen:CA10607317CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*2829dup23435TARDBPUncertain significancers886045051RCV000298127|RCV000359870; NMedGen:CN239175|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28211108553111085532AATNC_000001.10:g.11085540dupClinGen:CA10607287CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu)80213TM2D3Uncertain significancers140152371RCV001090112; NMeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28215102190328102190328GA15:g.102190328G>A-
NM_003985.6(TNK1):c.393C>G (p.His131Gln)8711TNK1Uncertain significancers767381816RCV001090113; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MeSH:D000544,MedGen:C07509011772869027286902CG17:g.7286902C>G-
NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)54209TREM2Pathogenic-1RCV001810084; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:28264112669341126693CT41126693-
NM_018965.4(TREM2):c.117C>G (p.Asp39Glu)54209TREM2Uncertain significancers200392967RCV001154721|RCV001847172|RCV002032426; NMONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MedGen:CN51720264112927541129275GC6:g.41129275G>C-
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)54832VPS13CUncertain significancers138846118RCV001090104; NMeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282156214860762148607GA15:g.62148607G>A-
MSeqDR Portal