MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Frontotemporal Lobar Degeneration (D057174)
..Starting node ..Frontotemporal Dementia (D057180)
Child Nodes:
........AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
........AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
........AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
........Amyotrophic Lateral Sclerosis 6, Autosomal Recessive (C567699)
........Chromosome 3-Linked Frontotemporal Dementia (C579991)
........FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
........FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
........FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
........FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
........Frontotemporal Dementia With Motor Neuron Disease (C566288)
........Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
........Pallidopontonigral Degeneration (C563003)
........Pick Disease of the Brain (D020774)
Sister Nodes:
..Frontotemporal Dementia (D057180) 8
..FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED (OMIM:607485)
..Pick Complex (C563966)
..Primary Progressive Nonfluent Aphasia (D057178)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: MAPT; PSEN1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007354	Amyotrophic lateral sclerosis
3	HP:0000741	Apathy
4	HP:0000734	Disinhibition
5	HP:0000727	Frontal lobe dementia
6	HP:0002145	Frontotemporal dementia
7	HP:0001425	Heterogeneous
8	HP:0000710	Hyperorality
9	HP:0000748	Inappropriate laughter
10	HP:0008768	Inappropriate sexual behavior
11	HP:0000737	Irritability
12	HP:0002463	Language impairment
13	HP:0002529	Neuronal loss in central nervous system
14	HP:0001300	Parkinsonism NAMDC: Parkinsonism
15	HP:0000751	Personality changes
16	HP:0002591	Polyphagia
17	HP:0002476	Primitive reflex

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)	10347	ABCA7	Likely pathogenic; risk factor	rs770510230	RCV001090095\|RCV002223988;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MeSH:D000544,MedGen:C0750901\|MedGen:CN517202	19	1058154	1058154	19:g.1058154G>T	-
NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)	283	ANG	Uncertain significance	-1	RCV001848613\|RCV002034770\|RCV002543425;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	14	21162091	21162091	21162091	-
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)	410	ARSA	Conflicting interpretations of pathogenicity	rs199476352	RCV000058956\|RCV000409776\|RCV001090098;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	22	51065803	51065803	22:g.51065803G>A	ClinGen:CA219008,UniProtKB/Swiss-Prot:VAR_054169	C0023522 250100 Metachromatic leukodystrophy;
NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)	899	CCNF	Likely pathogenic	-1	RCV001848611;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	16	2487156	2487156	2487156	-
NM_014043.3(CHMP2B):c.-259C>A	25978	CHMP2B	Uncertain significance	rs538600777	RCV000263633;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87276414	87276414	NC_000003.11:g.87276414C>A	ClinGen:CA10619647	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*92dup	25978	CHMP2B	Uncertain significance	rs886058906	RCV000393501;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87303063	87303064	3:g.87303063_87303064insC	ClinGen:CA10619698	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*106dup	25978	CHMP2B	Conflicting interpretations of pathogenicity	rs368297778	RCV000299934\|RCV001660726;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	3	87303064	87303065	3:g.87303064_87303065insA	ClinGen:CA10616739	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*899T>A	25978	CHMP2B	Likely benign	rs186472338	RCV000268315;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87303871	87303871	NC_000003.11:g.87303871T>A	ClinGen:CA10619654	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.955_960del	25978	CHMP2B	Uncertain significance	rs886058909	RCV000325634;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87303924	87303929	NC_000003.11:g.87303927_87303932del	ClinGen:CA10617538	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.1008_1011del	25978	CHMP2B	Uncertain significance	rs886058911	RCV000272519;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87303978	87303981	NC_000003.11:g.87303980_87303983del	ClinGen:CA10619699	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1190G>T	25978	CHMP2B	Benign/Likely benign	rs115892684	RCV000386865\|RCV001145713;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304162	87304162	NC_000003.11:g.87304162G>T	ClinGen:CA10619662	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1503G>C	25978	CHMP2B	Benign/Likely benign	rs1060238	RCV000279254\|RCV001148473;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304475	87304475	NC_000003.11:g.87304475G>C	ClinGen:CA10619664	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1641A>C	25978	CHMP2B	Uncertain significance	rs886058912	RCV000302114;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87304613	87304613	NC_000003.11:g.87304613A>C	ClinGen:CA10619666	C0338451 600274 Frontotemporal dementia;
NM_014043.4(CHMP2B):c.*1589G>A	-1	CHMP2B;POU1F1	Benign/Likely benign	rs1060241	RCV000372680\|RCV000399132\|RCV001148475;	N	MedGen:CN239344\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0010936,MedGen:C1833296,OMIM:600795, Orphanet:275864, Orphanet:282, Orphanet:803	3	87304561	87304561	3:g.87304561G>A	ClinGen:CA10617539	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*140A>T	-1	CHMP2B;POU1F1	Benign/Likely benign	rs33936108	RCV000308985\|RCV000337782\|RCV001150054\|RCV001643050;	N	MedGen:CN239344\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038\|MedGen:CN517202	3	87308904	87308904	3:g.87308904T>A	ClinGen:CA10616753	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*139T>A	-1	CHMP2B;POU1F1	Benign/Likely benign	rs4988463	RCV000277699\|RCV000404776\|RCV001143923\|RCV001683381;	N	MedGen:CN239344\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038\|MedGen:CN517202	3	87308905	87308905	3:g.87308905A>T	ClinGen:CA10616754	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*138T>A	-1	CHMP2B;POU1F1	Benign/Likely benign	rs190287993	RCV000306488\|RCV000316447\|RCV001143924\|RCV001643051;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN239344\|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038\|MedGen:CN517202	3	87308906	87308906	3:g.87308906A>T	ClinGen:CA10616756	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.666-6C>T	-1	CHMP2B;POU1F1	Conflicting interpretations of pathogenicity	rs201995103	RCV000338684\|RCV000395594\|RCV000898539;	N	MedGen:CN239344\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	3	87309260	87309260	3:g.87309260G>A	ClinGen:CA2501101	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)	1137	CHRNA4	Conflicting interpretations of pathogenicity	rs121912282	RCV000084610\|RCV000513088\|RCV000654320\|RCV001847655\|RCV002513908;	N	MedGen:C0040336\|MedGen:CN517202\|MONDO:MONDO:0020300,MedGen:C3696898, Orphanet:98784\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MeSH:D030342,MedGen:C0950123	20	61981129	61981129	20:g.61981129G>A	ClinGen:CA150420	C3696898 Autosomal dominant nocturnal frontal lobe epilepsy;
NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)	1143	CHRNB4	Likely pathogenic	-1	RCV001848609;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	15	78921989	78921989	78921989	-
NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)	1143	CHRNB4	Likely pathogenic	-1	RCV001848608;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	15	78927807	78927807	78927807	-
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)	1436	CSF1R	Likely pathogenic	rs1757092904	RCV001090101;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	5	149433949	149433949	5:g.149433949C>T	-
NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His)	2066	ERBB4	Uncertain significance	-1	RCV001848612\|RCV002543424;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	2	212251724	212251724	212251724	-
NM_018446.4(GLT8D1):c.393del (p.Lys131fs)	55830	GLT8D1	Likely pathogenic	-1	RCV001848610;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	52730612	52730612	52730611	-
NM_002087.3(GRN):c.-173C>T	2896	GRN	Uncertain significance	rs886053004	RCV000358975;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42422537	42422537	NC_000017.10:g.42422537C>T	ClinGen:CA10639807	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.87dup (p.Cys30fs)	2896	GRN	Pathogenic	rs794729672	RCV000185614\|RCV001852413;	N	Human 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:79262	17	42426617	42426618	17:g.42426617_42426618insC	ClinGen:CA275538	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.232dup (p.Ser78fs)	2896	GRN	Pathogenic	rs1567885658	RCV000736257;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42426886	42426887	NC_000017.10:g.42426887dup	-
NM_002087.4(GRN):c.385dup (p.Ser129fs)	2896	GRN	Pathogenic	rs1567886206	RCV000736256;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42427630	42427631	NC_000017.10:g.42427631dup	-
NM_002087.4(GRN):c.388_391del (p.Gln130fs)	2896	GRN	Pathogenic	rs63749801	RCV000017384\|RCV000084442\|RCV000736253\|RCV002513074;	N	MONDO: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:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070	17	42427631	42427634	17:g.42427631_42427634del	ClinGen:CA225245,OMIM:138945.0006	C1843792 607485 Frontotemporal dementia, ubiquitin-positive;
NM_002087.4(GRN):c.393C>T (p.Phe131=)	2896	GRN	Conflicting interpretations of pathogenicity	rs149180605	RCV000349606\|RCV002056604;	N	Human 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:79262	17	42427639	42427639	NC_000017.10:g.42427639C>T	ClinGen:CA8601872	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.462+1G>C	2896	GRN	Pathogenic	rs794729669	RCV000185610;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42427709	42427709	17:g.42427709G>C	ClinGen:CA275530	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs)	2896	GRN	Pathogenic	rs1567886445	RCV000736247;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42427869	42427870	NC_000017.10:g.42427869_42427870insTGTGAAGACAGGGTGCACTGCTGTC	-
NM_002087.4(GRN):c.560del (p.Leu187fs)	2896	GRN	Pathogenic	rs1567886478	RCV000736254;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42427907	42427907	NC_000017.10:g.42427907del	-
NM_002087.4(GRN):c.708+1G>A	2896	GRN	Pathogenic/Likely pathogenic	rs63749817	RCV000185615\|RCV000513518\|RCV000503399;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428169	42428169	17:g.42428169G>A	ClinGen:CA275539	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.759_760dup (p.Asp254fs)	2896	GRN	Pathogenic	rs63751035	RCV000736248;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42428448	42428449	NC_000017.10:g.42428449TG[5]	-
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)	2896	GRN	Pathogenic	rs63751035	RCV000084455\|RCV000736250\|RCV000995785;	N	MedGen: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:282	17	42428449	42428450	17:g.42428449_42428450del	ClinGen:CA225274	CN517202 not provided;
NM_002087.4(GRN):c.776dup (p.Cys260fs)	2896	GRN	Pathogenic	rs1567887015	RCV000736251\|RCV002292578;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	42428470	42428471	NC_000017.10:g.42428472dup	-
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)	2896	GRN	Pathogenic	rs794729670	RCV000185611\|RCV001254078;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485, Orphanet:100070, Orphanet:282	17	42428777	42428777	17:g.42428777T>G	ClinGen:CA275531	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)	2896	GRN	Uncertain significance	rs754862784	RCV000310685\|RCV002317839\|RCV002522980;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706, Orphanet:314629, Orphanet:79262; MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,	17	42429102	42429104	NC_000017.10:g.42429104TCC[1]	ClinGen:CA8602103
NM_002087.4(GRN):c.1179G>A (p.Glu393=)	2896	GRN	Likely pathogenic	rs1567887777	RCV000736255;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42429163	42429163	NC_000017.10:g.42429163G>A	-
NM_002087.4(GRN):c.1212C>A (p.Cys404Ter)	2896	GRN	Pathogenic	rs193026789	RCV000185612;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42429415	42429415	17:g.42429415C>A	ClinGen:CA275534	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1246dup (p.Cys416fs)	2896	GRN	Pathogenic	rs794729671	RCV000185613;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42429448	42429449	17:g.42429448_42429449insT	ClinGen:CA275537	C0338451 600274 Frontotemporal dementia;
NM_002087.4(GRN):c.1446C>A (p.Cys482Ter)	2896	GRN	Pathogenic	rs1567888461	RCV000736252;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	42429741	42429741	NC_000017.10:g.42429741C>A	-
NM_002137.4(HNRNPA2B1):c.965G>A (p.Gly322Glu)	3181	HNRNPA2B1	Likely pathogenic	-1	RCV001810078;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	7	26232197	26232197	26232197	-
NC_000017.10:g.(?_43861911)_(44159928_?)del	-1	KANSL1;STH;CRHR1;SPPL2C;MAPT	Conflicting interpretations of pathogenicity	-1	RCV001918826\|RCV003107888;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443, Orphanet:96169	17	43861911	44159928	-1	-
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu)	120892	LRRK2	Uncertain significance	rs762890407	RCV000414857;	N	Human Phenotype Ontology:HP:0012444,MedGen:C4551584; Human Phenotype Ontology:HP:0001300,MedGen:C0242422; Human Phenotype Ontology:HP:0002063,MedGen:C0026837; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	12	40717099	40717099	12:g.40717099T>C	ClinGen:CA6514493	C0235946 Brain atrophy;
NM_001377265.1(MAPT):c.-18+124C>G	4137	MAPT	Benign	-1	RCV001518458;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	43972176	43972176	43972176	-
NC_000017.10:g.(?_44039704)_(44101537_?)dup	4137	MAPT	Uncertain significance	-1	RCV003116458;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039704	44101537		-
NM_001377265.1(MAPT):c.4G>T (p.Ala2Ser)	4137	MAPT	Uncertain significance	-1	RCV002620679;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039707	44039707	NC_000017.10:g.44039707G>T	-
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)	4137	MAPT	Uncertain significance	-1	RCV002049876\|RCV002506868;	N	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:683, Orphanet:99750;	17	44039713	44039713	44039713	-
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys)	4137	MAPT	Conflicting interpretations of pathogenicity	rs766166210	RCV001123790\|RCV001856632;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039716	44039716	17:g.44039716C>T	-
NM_001377265.1(MAPT):c.14G>A (p.Arg5His)	4137	MAPT	Conflicting interpretations of pathogenicity	rs63750959	RCV000015330\|RCV000266864;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN239327	17	44039717	44039717	17:g.44039717G>A	ClinGen:CA257191,UniProtKB:P10636#VAR_019660,OMIM:157140.0017	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.18G>A (p.Gln6=)	4137	MAPT	Likely benign	-1	RCV002126868;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039721	44039721	44039721	-
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)	4137	MAPT	Uncertain significance	-1	RCV001815827\|RCV001869641;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039728	44039728	44039728	-
NM_001377265.1(MAPT):c.31A>C (p.Met11Leu)	4137	MAPT	Uncertain significance	-1	RCV002982990;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039734	44039734	NC_000017.10:g.44039734A>C	-
NM_001377265.1(MAPT):c.36A>G (p.Glu12=)	4137	MAPT	Likely benign	-1	RCV002178915;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039739	44039739	44039739	-
NM_001377265.1(MAPT):c.39T>C (p.Asp13_His14=)	4137	MAPT	Likely benign	-1	RCV003121633;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039742	44039742	NC_000017.10:g.44039742T>C	-
NM_001377265.1(MAPT):c.42C>T (p.His14=)	4137	MAPT	Likely benign	-1	RCV002119429;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039745	44039745	44039745	-
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)	4137	MAPT	Uncertain significance	rs755131800	RCV000662120\|RCV000662118\|RCV000662117\|RCV000662119;	N	MONDO: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:C4551862	17	44039750	44039750	17:g.44039750G>T	-	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met)	4137	MAPT	Benign/Likely benign	rs144611688	RCV000874605\|RCV002064770;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039753	44039753	17:g.44039753C>T	-
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)	4137	MAPT	Likely benign	rs63750811	RCV000084499\|RCV002513905;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039757	44039757	17:g.44039757C>T	ClinGen:CA225381	CN517202 not provided;
NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe)	4137	MAPT	Uncertain significance	-1	RCV001874485;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039763	44039763	44039763	-
NM_001377265.1(MAPT):c.62G>T (p.Gly21Val)	4137	MAPT	Uncertain significance	rs781076528	RCV000821910;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039765	44039765	17:g.44039765G>T	-
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)	4137	MAPT	Conflicting interpretations of pathogenicity	-1	RCV001921514\|RCV002560453;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MeSH:D030342,MedGen:C0950123	17	44039783	44039783	44039783	-
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)	4137	MAPT	Uncertain significance	rs374996228	RCV001229146\|RCV002491726;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:41	17	44039792	44039792	17:g.44039792C>T	-
NM_001377265.1(MAPT):c.89_90delinsAA (p.Thr30Lys)	4137	MAPT	Uncertain significance	-1	RCV002304743;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039792	44039793	44039792	-
NM_001377265.1(MAPT):c.117G>A (p.Thr39=)	4137	MAPT	Benign/Likely benign	rs63750529	RCV000084500\|RCV001512806;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039820	44039820	17:g.44039820G>A	ClinGen:CA225383	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.120C>T (p.Asp40=)	4137	MAPT	Benign/Likely benign	rs191362093	RCV000861209\|RCV001683670;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44039823	44039823	17:g.44039823C>T	-
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)	4137	MAPT	Uncertain significance	-1	RCV001953160;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44039824	44039824	44039824	-
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)	4137	MAPT	Benign	-1	RCV001521462\|RCV001685408;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44049267	44049267	44049267	-
NM_001377265.1(MAPT):c.177G>C (p.Pro59=)	4137	MAPT	Likely benign	-1	RCV001501480;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44049268	44049268	44049268	-
NM_001377265.1(MAPT):c.177G>A (p.Pro59=)	4137	MAPT	Likely benign	-1	RCV002160709;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44049268	44049268	44049268	-
NM_001377265.1(MAPT):c.216G>A (p.Ala72_Glu73=)	4137	MAPT	Likely benign	-1	RCV002680884;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44049307	44049307	NC_000017.10:g.44049307G>A	-
NM_001377265.1(MAPT):c.220+18C>T	4137	MAPT	Benign	rs75242405	RCV000244111\|RCV001510733\|RCV001610607;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44049329	44049329	17:g.44049329C>T	ClinGen:CA8617555	CN169374 not specified;
NM_001377265.1(MAPT):c.220+2451C>G	4137	MAPT	Uncertain significance	-1	RCV001973180;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44051762	44051762	44051762	-
NM_001377265.1(MAPT):c.220+2480G>A	4137	MAPT	Likely benign	-1	RCV002088779;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44051791	44051791	44051791	-
NM_001377265.1(MAPT):c.220+2490G>A	4137	MAPT	Uncertain significance	rs371071165	RCV000819677;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44051801	44051801	17:g.44051801G>A	-
NM_001377265.1(MAPT):c.220+2491C>T	4137	MAPT	Uncertain significance	rs780582778	RCV000526140;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44051802	44051802	17:g.44051802C>T	ClinGen:CA8617592	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.220+2503C>T	4137	MAPT	Conflicting interpretations of pathogenicity	rs138293088	RCV000803671\|RCV001123792;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN239327	17	44051814	44051814	17:g.44051814C>T	-
NM_001377265.1(MAPT):c.220+2531G>A	4137	MAPT	Uncertain significance	-1	RCV002711192;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44051842	44051842	NC_000017.10:g.44051842G>A	-
NM_001377265.1(MAPT):c.220+2535A>G	4137	MAPT	Benign	rs1800547	RCV000249235\|RCV000353232\|RCV001510734\|RCV001636762\|RCV002503932;	N	MedGen:CN169374\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260	17	44051846	44051846	17:g.44051846A>G	ClinGen:CA8617602	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.220+2538C>G	4137	MAPT	Conflicting interpretations of pathogenicity	rs368845248	RCV000260870\|RCV001579853\|RCV002522982;	N	MedGen:CN239327\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44051849	44051849	NC_000017.10:g.44051849C>G	ClinGen:CA8617603	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser)	4137	MAPT	Uncertain significance	-1	RCV001907887;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055752	44055752	44055752	-
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val)	4137	MAPT	Uncertain significance	rs144397565	RCV000517408\|RCV001726210\|RCV002525052;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055753	44055753	17:g.44055753G>T	ClinGen:CA8617639	CN169374 not specified;
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp)	4137	MAPT	Uncertain significance	-1	RCV002027900;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055753	44055753	44055753	-
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val)	4137	MAPT	Uncertain significance	-1	RCV001959824;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055755	44055755	44055755	-
NM_001377265.1(MAPT):c.251G>C (p.Ser84Thr)	4137	MAPT	Uncertain significance	-1	RCV002299103;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055771	44055771	44055771	-
NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp)	4137	MAPT	Uncertain significance	-1	RCV001370898;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055778	44055778	44055778	-
NM_001377265.1(MAPT):c.261C>T (p.Asp87=)	4137	MAPT	Likely benign	rs768654750	RCV002539229;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055781	44055781	17:g.44055781C>T	-
NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys)	4137	MAPT	Uncertain significance	rs373705830	RCV001056904;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055782	44055782	17:g.44055782G>A	-
NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly)	4137	MAPT	Uncertain significance	-1	RCV002020790;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055786	44055786	44055786	-
NM_001377265.1(MAPT):c.273T>C (p.Gly91=)	4137	MAPT	Likely benign	-1	RCV002171504;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44055793	44055793	44055793	-
NM_001377265.1(MAPT):c.630_640del (p.Phe211fs)	4137	MAPT	Uncertain significance	rs768990943	RCV000823327;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060574	44060584	17:g.44060574_44060584del	-
NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser)	4137	MAPT	Benign	rs151115928	RCV000876539;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060588	44060588	17:g.44060588C>T	-
NM_001377265.1(MAPT):c.756C>T (p.Asp252=)	4137	MAPT	Likely benign	rs1358418932	RCV000922021\|RCV001489706;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060701	44060701	17:g.44060701C>T	-
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)	4137	MAPT	Benign	rs63750417	RCV000084582\|RCV000254223\|RCV001510735;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060775	44060775	17:g.44060775C>T	ClinGen:CA225519	CN517202 not provided;
NM_001377265.1(MAPT):c.841G>T (p.Ala281Ser)	4137	MAPT	Uncertain significance	rs1321460540	RCV000700976;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060786	44060786	17:g.44060786G>T	-	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.848del (p.Gly283fs)	4137	MAPT	Uncertain significance	rs773149360	RCV000490460;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MedGen:C4551862	17	44060789	44060789	NC_000017.10:g.44060793del	ClinGen:CA8617709	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg)	4137	MAPT	Benign/Likely benign	rs76375268	RCV000635212\|RCV001591414;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44060807	44060807	17:g.44060807G>A	ClinGen:CA8617715	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)	4137	MAPT	Uncertain significance	rs150983093	RCV000791006\|RCV000791003\|RCV000791004\|RCV000791005\|RCV001354954;	N	MedGen:C4551862\|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:0007803,MedGen:C0393571, Orphanet:102\|MedGen:CN517202	17	44060834	44060834	17:g.44060834C>A	-
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly)	4137	MAPT	Conflicting interpretations of pathogenicity	rs141120474	RCV000761992\|RCV001510129;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060841	44060841	NC_000017.10:g.44060841T>G	-
NM_001377265.1(MAPT):c.912C>G (p.Pro304=)	4137	MAPT	Benign	rs142327009	RCV000873779\|RCV001766782;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44060857	44060857	17:g.44060857C>G	-
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)	4137	MAPT	Benign/Likely benign	rs63750072	RCV000084502\|RCV000246243\|RCV000555583\|RCV002490738;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:	17	44060859	44060859	17:g.44060859A>G	ClinGen:CA225387	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.969A>C (p.Thr323=)	4137	MAPT	Likely benign	rs781607136	RCV000877934\|RCV001481300;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060914	44060914	17:g.44060914A>C	-
NM_001377265.1(MAPT):c.973G>A (p.Ala325Thr)	4137	MAPT	Likely benign	rs770014302	RCV000896437;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060918	44060918	17:g.44060918G>A	-
NM_001377265.1(MAPT):c.1008G>A (p.Ala336=)	4137	MAPT	Uncertain significance	rs200385096	RCV000635208;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060953	44060953	17:g.44060953G>A	ClinGen:CA8617755	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1023C>G (p.Pro341=)	4137	MAPT	Likely benign	rs1382449748	RCV000540857;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44060968	44060968	17:g.44060968C>G	ClinGen:CA500643712	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)	4137	MAPT	Uncertain significance	rs753640366	RCV000521274\|RCV002476073;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:	17	44060987	44060987	17:g.44060987T>C	ClinGen:CA8617760	CN169374 not specified;
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn)	4137	MAPT	Benign	rs62063786	RCV000084503\|RCV000251165\|RCV001510736;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44061023	44061023	17:g.44061023G>A	UniProtKB:P10636#VAR_010340,ClinGen:CA225389	CN517202 not provided;
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)	4137	MAPT	Benign	rs63750222	RCV000084504\|RCV000254558\|RCV001514000;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44061025	44061025	17:g.44061025C>T	ClinGen:CA225391	CN517202 not provided;
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala)	4137	MAPT	Benign	rs62063787	RCV000084505\|RCV000244903\|RCV001510737;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44061036	44061036	17:g.44061036T>C	ClinGen:CA225393,UniProtKB:P10636#VAR_010341	CN517202 not provided;
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)	4137	MAPT	Uncertain significance	rs377402921	RCV000493800\|RCV000764133;	N	MedGen: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:683	17	44061060	44061060	17:g.44061060C>T	ClinGen:CA8617779	CN169374 not specified;
NM_001377265.1(MAPT):c.1137C>T (p.His379=)	4137	MAPT	Likely benign	rs142283842	RCV000874004;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44061082	44061082	17:g.44061082C>T	-
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu)	4137	MAPT	Benign	rs73314997	RCV000249877\|RCV001517496\|RCV001580035;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44061123	44061123	NC_000017.10:g.44061123C>T	ClinGen:CA8617803	CN169374 not specified;
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)	4137	MAPT	Benign	rs17651549	RCV000241580\|RCV000989933\|RCV001618407;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44061278	44061278	17:g.44061278C>T	ClinGen:CA8617840,UniProtKB:P10636#VAR_056121	CN169374 not specified;
NM_001377265.1(MAPT):c.1351+5G>C	4137	MAPT	Uncertain significance	-1	RCV002221384;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44061301	44061301	44061301	-
NM_001377265.1(MAPT):c.1355G>A (p.Arg452His)	4137	MAPT	Uncertain significance	-1	RCV001947990;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064409	44064409	44064409	-
NM_001377265.1(MAPT):c.1356C>A (p.Arg452=)	4137	MAPT	Likely benign	rs776028517	RCV000635214;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064410	44064410	NC_000017.10:g.44064410C>A	ClinGen:CA8617862	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn)	4137	MAPT	Uncertain significance	-1	RCV001928505;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064418	44064418	44064418	-
NM_001377265.1(MAPT):c.1366A>G (p.Lys456Glu)	4137	MAPT	Uncertain significance	-1	RCV001959768;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064420	44064420	44064420	-
NM_001377265.1(MAPT):c.1375G>A (p.Asp459Asn)	4137	MAPT	Uncertain significance	-1	RCV002823929;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064429	44064429	NC_000017.10:g.44064429G>A	-
NM_001377265.1(MAPT):c.1377C>T (p.Asp459=)	4137	MAPT	Likely benign	rs371173110	RCV002548293;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064431	44064431	17:g.44064431C>T	-
NM_001377265.1(MAPT):c.1407+10C>T	4137	MAPT	Likely benign	-1	RCV002959153;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064471	44064471	NC_000017.10:g.44064471C>T	-
NM_001377265.1(MAPT):c.1407+11G>A	4137	MAPT	Likely benign	-1	RCV002903577;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064472	44064472	NC_000017.10:g.44064472G>A	-
NM_001377265.1(MAPT):c.1407+18C>T	4137	MAPT	Likely benign	-1	RCV002156506;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44064479	44064479	44064479	-
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys)	4137	MAPT	Likely benign	rs986393575	RCV000942546\|RCV001503794;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44067253	44067253	17:g.44067253C>T	-
NM_001377265.1(MAPT):c.1453C>T (p.Leu485Phe)	4137	MAPT	Likely benign	rs199759929	RCV000964742\|RCV001393993;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44067289	44067289	17:g.44067289C>T	-
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)	4137	MAPT	Conflicting interpretations of pathogenicity	rs143956882	RCV000585116\|RCV000989934;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44067341	44067341	17:g.44067341C>T	ClinGen:CA8617915	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His)	4137	MAPT	Benign	rs2258689	RCV000084507\|RCV000246568\|RCV001514001;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44067382	44067382	17:g.44067382T>C	ClinGen:CA225397,UniProtKB:P10636#VAR_010342	CN517202 not provided;
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)	4137	MAPT	Benign	rs10445337	RCV000084508\|RCV000251494\|RCV000989935;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44067400	44067400	17:g.44067400T>C	ClinGen:CA225399,UniProtKB:P10636#VAR_010343	CN517202 not provided;
NM_001377265.1(MAPT):c.1606-19T>C	4137	MAPT	Likely benign	-1	RCV002618753;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068807	44068807	NC_000017.10:g.44068807T>C	-
NM_001377265.1(MAPT):c.1606-18A>G	4137	MAPT	Likely benign	-1	RCV002667039;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068808	44068808	NC_000017.10:g.44068808A>G	-
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu)	4137	MAPT	Uncertain significance	rs116231676	RCV001346710;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068827	44068827	44068827	-
NM_001377265.1(MAPT):c.1607G>C (p.Gly536Ala)	4137	MAPT	Uncertain significance	-1	RCV003073026;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068827	44068827	NC_000017.10:g.44068827G>C	-
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=)	4137	MAPT	Likely benign	rs139748238	RCV000544124;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068843	44068843	NC_000017.10:g.44068843G>A	ClinGen:CA8617959	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr)	4137	MAPT	Likely benign	rs114635790	RCV000635213;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068848	44068848	NC_000017.10:g.44068848T>C	ClinGen:CA8617960	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met)	4137	MAPT	Uncertain significance	rs759212591	RCV001299120;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068849	44068849	44068849	-
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=)	4137	MAPT	Likely benign	-1	RCV002115268;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068849	44068849	44068849	-
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr)	4137	MAPT	Conflicting interpretations of pathogenicity	rs143624519	RCV000356485\|RCV000532567\|RCV001531268;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44068850	44068850	NC_000017.10:g.44068850G>A	ClinGen:CA8617962	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1638G>A (p.Pro546=)	4137	MAPT	Benign/Likely benign	rs201046056	RCV000273482\|RCV000635210;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068858	44068858	NC_000017.10:g.44068858G>A	ClinGen:CA8617965	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu)	4137	MAPT	Uncertain significance	-1	RCV002011386;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068872	44068872	44068872	-
NM_001377265.1(MAPT):c.1677C>T (p.Asn559_Ala560=)	4137	MAPT	Likely benign	-1	RCV002923812;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068897	44068897	NC_000017.10:g.44068897C>T	-
NM_001377265.1(MAPT):c.1678G>A (p.Ala560Thr)	4137	MAPT	Uncertain significance	-1	RCV002909247;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068898	44068898	NC_000017.10:g.44068898G>A	-
NM_001377265.1(MAPT):c.1703C>T (p.Pro568Leu)	4137	MAPT	Uncertain significance	rs1273925499	RCV001240473;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068923	44068923	17:g.44068923C>T	-
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=)	4137	MAPT	Benign	rs1052551	RCV000084509\|RCV000243513\|RCV000330758\|RCV001510738;	N	MedGen:CN517202\|MedGen:CN169374\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068924	44068924	17:g.44068924G>A	ClinGen:CA225401	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=)	4137	MAPT	Likely benign	-1	RCV002121143;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068924	44068924	44068924	-
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=)	4137	MAPT	Likely benign	rs750910229	RCV000920629;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068927	44068927	17:g.44068927C>T	-
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)	4137	MAPT	Benign	rs63750612	RCV000084510\|RCV000246861\|RCV000387650\|RCV001079276;	N	MedGen:CN517202\|MedGen:CN169374\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068928	44068928	17:g.44068928G>A	ClinGen:CA225403	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1732+8_1732+10del	4137	MAPT	Likely benign	-1	RCV002161293;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44068955	44068957	44068954	-
NM_001377265.1(MAPT):c.1732+2342T>C	4137	MAPT	Benign	rs62063845	RCV000084511\|RCV000251813\|RCV001510739;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44071294	44071294	17:g.44071294T>C	ClinGen:CA225405	CN517202 not provided;
NM_001377265.1(MAPT):c.1732+2364C>T	4137	MAPT	Benign	rs187760483	RCV000861531\|RCV001692298;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44071316	44071316	17:g.44071316C>T	-
NM_001377265.1(MAPT):c.1732+2367C>G	4137	MAPT	Benign	rs267604921	RCV000954051;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44071319	44071319	17:g.44071319C>G	-
NM_001377265.1(MAPT):c.1733-14T>C	4137	MAPT	Likely benign	-1	RCV002215329;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073751	44073751	44073751	-
NM_001377265.1(MAPT):c.1733-12C>T	4137	MAPT	Likely benign	-1	RCV002198404;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073753	44073753	44073753	-
NM_001377265.1(MAPT):c.1733-3del	4137	MAPT	Uncertain significance	rs2074473044	RCV001235651;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073760	44073760	17:g.44073760_44073760del	-
NM_001377265.1(MAPT):c.1749_1750del (p.Asp585fs)	4137	MAPT	Uncertain significance	-1	RCV002011346;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073781	44073782	44073780	-
NM_001377265.1(MAPT):c.1749A>C (p.Ser583_Gly584=)	4137	MAPT	Likely benign	-1	RCV002695333;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073781	44073781	NC_000017.10:g.44073781A>C	-
NM_001377265.1(MAPT):c.1752G>A (p.Gly584_Asp585=)	4137	MAPT	Likely benign	-1	RCV003057136;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073784	44073784	NC_000017.10:g.44073784G>A	-
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=)	4137	MAPT	Likely benign	-1	RCV002108786;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073799	44073799	44073799	-
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=)	4137	MAPT	Benign/Likely benign	rs201057449	RCV001128498\|RCV001395763;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073808	44073808	17:g.44073808C>T	-
NM_001377265.1(MAPT):c.1777G>A (p.Gly593Ser)	4137	MAPT	Uncertain significance	-1	RCV003064463;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073809	44073809	NC_000017.10:g.44073809G>A	-
NM_001377265.1(MAPT):c.1795G>A (p.Gly599Ser)	4137	MAPT	Uncertain significance	-1	RCV002292042\|RCV003097803;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073827	44073827	44073827	-
NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys)	4137	MAPT	Conflicting interpretations of pathogenicity	rs138984221	RCV001128499\|RCV001856676;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073833	44073833	17:g.44073833C>T	-
NM_001377265.1(MAPT):c.1802G>A (p.Arg601His)	4137	MAPT	Conflicting interpretations of pathogenicity	rs115492908	RCV000635209\|RCV001128500;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN239327	17	44073834	44073834	17:g.44073834G>A	ClinGen:CA8618037	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1802G>T (p.Arg601Leu)	4137	MAPT	Uncertain significance	-1	RCV003050482;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073834	44073834	NC_000017.10:g.44073834G>T	-
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)	4137	MAPT	Uncertain significance	-1	RCV001938426\|RCV002484525;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:24	17	44073839	44073839	44073839	-
NM_001377265.1(MAPT):c.1808G>A (p.Arg603His)	4137	MAPT	Uncertain significance	-1	RCV001944992;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073840	44073840	44073840	-
NM_001377265.1(MAPT):c.1811C>A (p.Thr604Asn)	4137	MAPT	Uncertain significance	rs763356972	RCV001300291;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073843	44073843	44073843	-
NM_001377265.1(MAPT):c.1814C>T (p.Pro605Leu)	4137	MAPT	Uncertain significance	-1	RCV001808995;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073846	44073846	44073846	-
NM_001377265.1(MAPT):c.1831C>T (p.Pro611Ser)	4137	MAPT	Uncertain significance	rs1598326219	RCV000793907;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073863	44073863	17:g.44073863C>T	-
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro)	4137	MAPT	Uncertain significance	rs1598326279	RCV000989936;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073866	44073866	17:g.44073866A>C	-
NM_001377265.1(MAPT):c.1838G>A (p.Arg613Gln)	4137	MAPT	Uncertain significance	-1	RCV003064464\|RCV003128879;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44073870	44073870	NC_000017.10:g.44073870G>A	-
NM_001377265.1(MAPT):c.1854G>A (p.Val618=)	4137	MAPT	Likely benign	-1	RCV002218869;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073886	44073886	44073886	-
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)	4137	MAPT	Benign	rs1052553	RCV000084512\|RCV000295833\|RCV000243822\|RCV001510740;	N	MedGen:CN517202\|MedGen:CN239327\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073889	44073889	17:g.44073889A>G	ClinGen:CA225407	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=)	4137	MAPT	Likely benign	-1	RCV002178407;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073898	44073898	44073898	-
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)	4137	MAPT	Likely benign	-1	RCV001459077\|RCV002495658;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:24	17	44073913	44073913	44073913	-
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=)	4137	MAPT	Conflicting interpretations of pathogenicity	rs145897970	RCV000658785\|RCV002060787;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073916	44073916	17:g.44073916G>A	-	CN517202 not provided;
NM_001377265.1(MAPT):c.1890C>T (p.Ser630_Ala631=)	4137	MAPT	Likely benign	-1	RCV003007398;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073922	44073922	NC_000017.10:g.44073922C>T	-
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)	4137	MAPT	Conflicting interpretations of pathogenicity	rs63750096	RCV000084513\|RCV000325065\|RCV000805364;	N	MedGen:CN517202\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073923	44073923	NC_000017.10:g.44073923G>A	ClinGen:CA225409	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1900C>T (p.Arg634Cys)	4137	MAPT	Uncertain significance	-1	RCV002776154;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073932	44073932	NC_000017.10:g.44073932C>T	-
NM_001377265.1(MAPT):c.1918G>A (p.Val640Met)	4137	MAPT	Uncertain significance	-1	RCV002001707;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073950	44073950	44073950	-
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=)	4137	MAPT	Benign/Likely benign	rs141636979	RCV000712259\|RCV001128501\|RCV002060888;	N	MedGen:CN517202\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073970	44073970	NC_000017.10:g.44073970G>A	-
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)	4137	MAPT	Benign	rs17652121	RCV000084514\|RCV000248783\|RCV000382118\|RCV001510741;	N	MedGen:CN517202\|MedGen:CN169374\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073973	44073973	17:g.44073973T>C	ClinGen:CA225411	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=)	4137	MAPT	Likely benign	-1	RCV001446991;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073988	44073988	44073988	-
NM_001377265.1(MAPT):c.1957G>A (p.Gly653Ser)	4137	MAPT	Uncertain significance	-1	RCV003074863;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44073989	44073989	NC_000017.10:g.44073989G>A	-
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)	4137	MAPT	Pathogenic	rs63750349	RCV000015336\|RCV000084517;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44074004	44074004	17:g.44074004C>G	ClinGen:CA225417,UniProtKB:P10636#VAR_019662,OMIM:157140.0022	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=)	4137	MAPT	Benign/Likely benign	rs373081497	RCV000290067\|RCV000970516;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074006	44074006	NC_000017.10:g.44074006G>A	ClinGen:CA8618065	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu)	4137	MAPT	Uncertain significance	rs2074495003	RCV001226581;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074014	44074014	17:g.44074014A>T	-
NM_001377265.1(MAPT):c.1985C>T (p.Pro662Leu)	4137	MAPT	Uncertain significance	rs1047467075	RCV001240818;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074017	44074017	17:g.44074017C>T	-
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)	4137	MAPT	Benign	rs11568305	RCV000084518\|RCV000253733\|RCV000347983\|RCV000554260;	N	MedGen:CN517202\|MedGen:CN169374\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074018	44074018	17:g.44074018G>A	ClinGen:CA225419	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val)	4137	MAPT	Pathogenic	rs63750376	RCV000015315\|RCV000084519;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44074023	44074023	17:g.44074023G>T	ClinGen:CA225421,UniProtKB:P10636#VAR_010345,OMIM:157140.0002	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1992C>T (p.Gly664_Gly665=)	4137	MAPT	Likely benign	-1	RCV002949050;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074024	44074024	NC_000017.10:g.44074024C>T	-
NM_001377265.1(MAPT):c.1995G>C (p.Gly665_Lys666=)	4137	MAPT	Likely benign	-1	RCV002953397;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074027	44074027	NC_000017.10:g.44074027G>C	-
NM_001377265.1(MAPT):c.1998+15C>T	4137	MAPT	Likely benign	-1	RCV002157805;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074045	44074045	44074045	-
NM_001377265.1(MAPT):c.1998+19G>A	4137	MAPT	Likely benign	-1	RCV002933288;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44074049	44074049	NC_000017.10:g.44074049G>A	-
NM_001377265.1(MAPT):c.1999-10G>T	4137	MAPT	Pathogenic	rs63749974	RCV000084520\|RCV002513906;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087666	44087666	17:g.44087666G>T	ClinGen:CA225423	CN517202 not provided;
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	4137	MAPT	Pathogenic	rs63750756	RCV000015322\|RCV000084521\|RCV000763404;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683, Orphanet:99750; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,	17	44087690	44087690	17:g.44087690T>G	ClinGen:CA225424,UniProtKB:P10636#VAR_010346,OMIM:157140.0009	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del)	4137	MAPT	Conflicting interpretations of pathogenicity	rs63750688	RCV000084522\|RCV000695531;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087691	44087693	17:g.44087691_44087693del	ClinGen:CA225429	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=)	4137	MAPT	Likely benign	-1	RCV001430919;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087711	44087711	44087711	-
NM_001377265.1(MAPT):c.2035G>A (p.Val679Ile)	4137	MAPT	Uncertain significance	rs149280278	RCV001235829;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087712	44087712	17:g.44087712G>A	-
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)	4137	MAPT	Pathogenic	rs63750912	RCV000015326\|RCV000084525;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44087741	44087741	17:g.44087741T>C	OMIM:157140.0013,ClinGen:CA225434	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)	4137	MAPT	Benign/Likely benign	-1	RCV001680629\|RCV002073198\|RCV002496003;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:16	17	44087751	44087751	44087751	-
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)	4137	MAPT	Pathogenic	rs63751438	RCV000015325\|RCV000084526;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44087754	44087754	17:g.44087754C>T	ClinGen:CA225439,UniProtKB:P10636#VAR_010349,OMIM:157140.0012	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	4137	MAPT	Pathogenic	rs63751273	RCV000015313\|RCV000084527\|RCV000763405\|RCV002508757;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683, Orphanet:99750; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,	17	44087755	44087755	17:g.44087755C>T	ClinGen:CA225444,UniProtKB:P10636#VAR_010348,OMIM:157140.0001	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=)	4137	MAPT	Likely benign	rs63751395	RCV000084528\|RCV000396762\|RCV002514503;	N	MedGen:CN517202\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087756	44087756	17:g.44087756G>A	ClinGen:CA225449	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn)	4137	MAPT	Pathogenic	rs63751165	RCV000015323\|RCV000084530;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44087767	44087767	17:g.44087767G>A	ClinGen:CA225453,UniProtKB:P10636#VAR_010350,OMIM:157140.0010	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)	4137	MAPT	Pathogenic/Likely pathogenic	rs63750568	RCV000084531\|RCV000989937;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087768	44087768	17:g.44087768T>C	ClinGen:CA225458	CN517202 not provided;
NM_001377265.1(MAPT):c.2091+1G>A	4137	MAPT	Pathogenic	rs1568327531	RCV000015320;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087769	44087769	17:g.44087769G>A	OMIM:157140.0007	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2091+11T>C	4137	MAPT	Pathogenic	rs63751394	RCV000015333\|RCV000084533;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44087779	44087779	17:g.44087779T>C	ClinGen:CA225461,OMIM:157140.0020	CN517202 not provided;
NM_001377265.1(MAPT):c.2091+13A>G	4137	MAPT	Pathogenic	rs63750308	RCV000015318\|RCV000084535;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44087781	44087781	17:g.44087781A>G	ClinGen:CA225463,OMIM:157140.0005	CN517202 not provided;
NM_001377265.1(MAPT):c.2091+14C>T	4137	MAPT	Pathogenic	rs63750972	RCV000015317\|RCV000084536;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44087782	44087782	17:g.44087782C>T	ClinGen:CA225464,OMIM:157140.0004	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2091+16C>G	4137	MAPT	Likely pathogenic	-1	RCV002914169;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087784	44087784	NC_000017.10:g.44087784C>G	-
NM_001377265.1(MAPT):c.2091+17G>A	4137	MAPT	Likely benign	-1	RCV003067583;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44087785	44087785	NC_000017.10:g.44087785G>A	-
NM_001377265.1(MAPT):c.2091+29G>A	4137	MAPT	Benign/Likely benign	rs63751443	RCV000084540\|RCV001081972\|RCV001725968\|RCV002514504;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	17	44087797	44087797	17:g.44087797G>A	ClinGen:CA225468	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2101G>T (p.Val701Phe)	4137	MAPT	Uncertain significance	-1	RCV002895328;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44091618	44091618	NC_000017.10:g.44091618G>T	-
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met)	4137	MAPT	Pathogenic	rs63750092	RCV000015338\|RCV000084543;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44091643	44091643	17:g.44091643A>T	ClinGen:CA225473,UniProtKB:P10636#VAR_037440,OMIM:157140.0024	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)	4137	MAPT	Pathogenic	rs63750635	RCV000015331\|RCV000084544\|RCV000995804;	N	MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44091652	44091652	17:g.44091652C>T	ClinGen:CA225475,UniProtKB:P10636#VAR_019665,OMIM:157140.0018	CN517202 not provided;
NM_001377265.1(MAPT):c.2173G>T (p.Gly725Ter)	4137	MAPT	Uncertain significance	rs2076012350	RCV001235615;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44091690	44091690	17:g.44091690G>T	-
NM_001377265.1(MAPT):c.2173+9G>C	4137	MAPT	Conflicting interpretations of pathogenicity	rs979650971	RCV001122793\|RCV002070007;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44091699	44091699	17:g.44091699G>C	-
NM_001377265.1(MAPT):c.2174-5T>A	4137	MAPT	Uncertain significance	-1	RCV002632386;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44095979	44095979	NC_000017.10:g.44095979T>A	-
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)	4137	MAPT	Conflicting interpretations of pathogenicity	rs1598408073	RCV000823456;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44095994	44095994	17:g.44095994G>C	-
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)	4137	MAPT	Pathogenic	rs63750570	RCV000015321\|RCV000084548;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44095995	44095995	17:g.44095995G>A	ClinGen:CA225483,UniProtKB:P10636#VAR_010351,OMIM:157140.0008	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val)	4137	MAPT	Pathogenic	rs63750711	RCV000015327\|RCV000084549;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	17	44096011	44096011	17:g.44096011A>T	ClinGen:CA225485,UniProtKB:P10636#VAR_019666,OMIM:157140.0014	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2205G>A (p.Lys735_Leu736=)	4137	MAPT	Likely benign	-1	RCV002876572;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096015	44096015	NC_000017.10:g.44096015G>A	-
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg)	4137	MAPT	Likely pathogenic	rs1568339821	RCV000736258;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096038	44096038	NC_000017.10:g.44096038A>G	-
NM_001377265.1(MAPT):c.2232G>C (p.Ser744_Lys745=)	4137	MAPT	Likely benign	-1	RCV002577222;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096042	44096042	NC_000017.10:g.44096042G>C	-
NM_001377265.1(MAPT):c.2262C>T (p.His754=)	4137	MAPT	Likely benign	-1	RCV002210323;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096072	44096072	44096072	-
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)	4137	MAPT	Pathogenic/Likely pathogenic	rs63750869	RCV000084551\|RCV000692998;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096073	44096073	17:g.44096073G>A	ClinGen:CA225490	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr)	4137	MAPT	Likely pathogenic	rs1598408336	RCV000995805;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096076	44096076	17:g.44096076C>A	-
NM_001377265.1(MAPT):c.2268T>C (p.Pro756_Gly757=)	4137	MAPT	Likely benign	-1	RCV002825261;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096078	44096078	NC_000017.10:g.44096078T>C	-
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=)	4137	MAPT	Conflicting interpretations of pathogenicity	rs148501218	RCV000284697\|RCV001421102;	N	MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096081	44096081	NC_000017.10:g.44096081C>T	ClinGen:CA8618231	CN239327 MAPT-Related Spectrum Disorders;
NM_001377265.1(MAPT):c.2286+6G>T	4137	MAPT	Uncertain significance	rs2076343277	RCV001340909;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44096102	44096102	44096102	-
NM_001377265.1(MAPT):c.2287-12C>T	4137	MAPT	Likely benign	-1	RCV003023006;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101310	44101310	NC_000017.10:g.44101310C>T	-
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=)	4137	MAPT	Uncertain significance	rs373462041	RCV000699959;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101348	44101348	NC_000017.10:g.44101348C>T	-	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=)	4137	MAPT	Likely benign	-1	RCV001450330;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101348	44101348	44101348	-
NM_001377265.1(MAPT):c.2328C>T (p.Ala776_Lys777=)	4137	MAPT	Likely benign	-1	RCV002996504;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101363	44101363	NC_000017.10:g.44101363C>T	-
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	4137	MAPT	Pathogenic/Likely pathogenic	rs63750512	RCV000015324\|RCV000517183\|RCV001851871;	N	MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101376	44101376	17:g.44101376G>A	ClinGen:CA257189,UniProtKB:P10636#VAR_010352,OMIM:157140.0011	CN517202 not provided;
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr)	4137	MAPT	Uncertain significance	-1	RCV001866334;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101379	44101379	44101379	-
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=)	4137	MAPT	Likely benign	-1	RCV002217957;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101381	44101381	44101381	-
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=)	4137	MAPT	Likely benign	rs142776675	RCV000992290\|RCV002549791;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101384	44101384	17:g.44101384G>A	-
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val)	4137	MAPT	Uncertain significance	rs991713081	RCV001090107\|RCV002554805;	N	\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101385	44101385	17:g.44101385A>G	-
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)	4137	MAPT	Conflicting interpretations of pathogenicity	rs377720312	RCV000488020\|RCV001122795\|RCV002063827;	N	MedGen:CN517202\|MedGen:CN239327\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101399	44101399	17:g.44101399G>A	ClinGen:CA8618258	CN517202 not provided;
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	4137	MAPT	Pathogenic	rs63750424	RCV000015316\|RCV000084554\|RCV002476970;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202\|MONDO:MONDO:0009839,MedGen:C1850077,OMIM:260540, Orphanet:240085, Orphanet:683, Orphanet:99750; MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700,	17	44101427	44101427	17:g.44101427C>T	ClinGen:CA225495,UniProtKB:P10636#VAR_010353,OMIM:157140.0003	C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.2406T>C (p.Asn802=)	4137	MAPT	Benign	rs115381139	RCV000873732;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101441	44101441	17:g.44101441T>C	-
NM_001377265.1(MAPT):c.2418C>T (p.Thr806=)	4137	MAPT	Likely benign	-1	RCV001422462;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101453	44101453	44101453	-
NM_001377265.1(MAPT):c.2419G>A (p.Gly807Ser)	4137	MAPT	Uncertain significance	-1	RCV003079217;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101454	44101454	NC_000017.10:g.44101454G>A	-
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn)	4137	MAPT	Uncertain significance	-1	RCV001907979;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101463	44101463	44101463	-
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys)	4137	MAPT	Uncertain significance	rs63750191	RCV000084555\|RCV001857413;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101481	44101481	17:g.44101481C>A	ClinGen:CA225498	CN517202 not provided;
NM_001377265.1(MAPT):c.2451C>T (p.Leu817=)	4137	MAPT	Likely benign	-1	RCV002163692;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101486	44101486	44101486	-
NM_001377265.1(MAPT):c.2452G>A (p.Ala818Thr)	4137	MAPT	Uncertain significance	-1	RCV002882088;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	44101487	44101487	NC_000017.10:g.44101487G>A	-
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu)	57574	MARCHF4	Uncertain significance	rs756981946	RCV000590974;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	2	217148338	217148338	NC_000002.11:g.217148338T>C	ClinGen:CA2097378	C0338451 600274 Frontotemporal dementia;
NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys)	57574	MARCHF4	Likely benign	rs145386484	RCV000590979;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	2	217234945	217234945	2:g.217234945C>G	ClinGen:CA2097508	C0338451 600274 Frontotemporal dementia;
NM_007375.4(TARDBP):c.2294_2295insGTTTT	-1	MASP2;TARDBP	Benign	rs3059695	RCV000267829\|RCV000353235\|RCV000394679;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187	1	11085004	11085005	NC_000001.10:g.11085005_11085006insGTTTT	ClinGen:CA10607486	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*2331A>G	-1	MASP2;TARDBP	Benign/Likely benign	rs114897688	RCV000309062\|RCV000322945\|RCV000377600\|RCV001098078;	N	MONDO: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:803	1	11085042	11085042	NC_000001.10:g.11085042A>G	ClinGen:CA10607316	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.*225T>C	-1	MASP2;TARDBP	Benign	rs1033638	RCV000368372\|RCV000392886\|RCV000400242;	N	MedGen:CN239175\|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11086717	11086717	NC_000001.10:g.11086717A>G	ClinGen:CA10607320	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.*184C>T	-1	MASP2;TARDBP	Likely benign	rs115750484	RCV000314809\|RCV000369417\|RCV001101863;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN239175\|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791, Orphanet:331187	1	11086758	11086758	1:g.11086758G>A	ClinGen:CA10654420	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.1617T>C (p.Asn539=)	-1	MASP2;TARDBP	Benign/Likely benign	rs72550845	RCV000260724\|RCV000316368\|RCV000333994\|RCV000963738;	N	MedGen: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:CN517202	1	11087386	11087386	1:g.11087386A>G	ClinGen:CA586632	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_006610.4(MASP2):c.1479C>T (p.Ser493=)	-1	MASP2;TARDBP	Benign	rs1782455	RCV000262387\|RCV000294328\|RCV000357134\|RCV000455702;	N	MedGen: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:CN169374	1	11087524	11087524	1:g.11087524G>A	ClinGen:CA586657	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_002397.5(MEF2C):c.-208del	4208	MEF2C	Uncertain significance	rs886060864	RCV000359333\|RCV000490443\|RCV000490253;	N	MedGen:CN239216\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN169374	5	88178837	88178837	NC_000005.9:g.88178846del	ClinGen:CA10622455	C0338451 600274 Frontotemporal dementia;
NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC	4208	MEF2C	Likely pathogenic	rs1085307051	RCV000490370;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	5	88179126	88179139	5:g.88179126_88179139del	ClinGen:CA645293867	C0338451 600274 Frontotemporal dementia;
NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)	10133	OPTN	Likely pathogenic	-1	RCV001848606;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	10	13152343	13152343	13152343	-
NM_000306.4(POU1F1):c.*213=	-1	POU1F1;CHMP2B	Benign	rs6792500	RCV000280492\|RCV000407251\|RCV001618616;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038\|MedGen:CN517202	3	87308831	87308831	3:g.87308831C>T	ClinGen:CA10616748	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.*139dup	-1	POU1F1;CHMP2B	Conflicting interpretations of pathogenicity	rs368061882	RCV000366346\|RCV000404010;	N	MedGen:CN239344\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	3	87308904	87308905	NC_000003.11:g.87308905dupA	ClinGen:CA10619671	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000306.4(POU1F1):c.666-5G>A	-1	POU1F1;CHMP2B	Benign/Likely benign	rs76296626	RCV000179288\|RCV000281196\|RCV000363552\|RCV000712842\|RCV001143926;	N	MedGen: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:613038	3	87309259	87309259	3:g.87309259C>T	ClinGen:CA203213	CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_000021.3(PSEN1):c.-528C>G	5663	PSEN1	Benign	rs34086577	RCV000559201\|RCV001516352;	N	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:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133	14	73602899	73602899	14:g.73602899C>G	ClinGen:CA262598192	C3151038 613737 Acne inversa, familial, 3;
NM_000021.3(PSEN1):c.-296C>T	5663	PSEN1	Benign/Likely benign	rs1800839	RCV000314754\|RCV000408289\|RCV000546639\|RCV001512125;	N	MONDO:MONDO:0015140,MedGen:CN043596, Orphanet:1020\|MedGen:CN239310\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; MONDO:MONDO:	14	73603131	73603131	14:g.73603131C>T	ClinGen:CA10654512	C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.-136+213G>A	5663	PSEN1	Likely benign	-1	RCV001495274;	N	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:0013398,MedGen:C31510	14	73603504	73603504	73603504	-
NM_000021.4(PSEN1):c.87+11_87+14dup	5663	PSEN1	Likely benign	-1	RCV002846845;	N	MONDO: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:C31510	14	73614821	73614822	NC_000014.8:g.73614825_73614828dup	-
NM_000021.4(PSEN1):c.88-7C>T	5663	PSEN1	Likely benign	rs1594997672	RCV000940776\|RCV001491480;	N	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:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133	14	73637498	73637498	14:g.73637498C>T	-
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)	5663	PSEN1	Uncertain significance	rs746691776	RCV001090096;	N	MeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73637520	73637520	14:g.73637520C>T	-
NM_000021.4(PSEN1):c.118_120del (p.Asp40del)	5663	PSEN1	Uncertain significance	-1	RCV002004172;	N	MONDO: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:C31510	14	73637533	73637535	73637532	-
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)	5663	PSEN1	Uncertain significance	-1	RCV002711664;	N	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:C0236642,OMIM:17270	14	73637540	73637540	NC_000014.8:g.73637540A>T	-
NM_000021.4(PSEN1):c.138C>T (p.His46=)	5663	PSEN1	Benign	-1	RCV001513571;	N	MONDO: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:C31510	14	73637555	73637555	73637555	-
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	5663	PSEN1	Conflicting interpretations of pathogenicity	-1	RCV002088756\|RCV003007081;	N	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:C0236642,OMIM:17270	14	73637562	73637562	73637562	-
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln)	5663	PSEN1	Likely benign	-1	RCV001392197;	N	MONDO: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:C31510	14	73637578	73637578	73637578	-
NM_000021.4(PSEN1):c.177C>T (p.Ser59=)	5663	PSEN1	Likely benign	-1	RCV002110042;	N	MONDO: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:C31510	14	73637594	73637594	73637594	-
NM_000021.4(PSEN1):c.177C>A (p.Ser59_Arg60=)	5663	PSEN1	Likely benign	-1	RCV002599803;	N	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:0013398,MedGen:C31510	14	73637594	73637594	NC_000014.8:g.73637594C>A	-
NM_000021.4(PSEN1):c.213G>A (p.Glu71=)	5663	PSEN1	Likely benign	-1	RCV002159689;	N	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:0013398,MedGen:C31510	14	73637630	73637630	73637630	-
NM_000021.4(PSEN1):c.234C>A (p.Gly78_Ala79=)	5663	PSEN1	Likely benign	-1	RCV002766185;	N	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:C0236642,OMIM:17270	14	73637651	73637651	NC_000014.8:g.73637651C>A	-
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)	5663	PSEN1	Likely pathogenic	-1	RCV002824042;	N	Human 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:C31510	14	73637669	73637669	NC_000014.8:g.73637669G>C	-
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)	5663	PSEN1	Uncertain significance	rs1897874234	RCV001208063;	N	MONDO: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:17270	14	73637679	73637679	14:g.73637679C>A	-
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)	5663	PSEN1	Pathogenic	rs1897874329	RCV001261949;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73637680	73637680	14:g.73637680C>G	-
NM_000021.4(PSEN1):c.264T>C (p.Pro88=)	5663	PSEN1	Likely benign	-1	RCV001476967;	N	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:C0236642,OMIM:17270	14	73637681	73637681	73637681	-
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)	5663	PSEN1	Uncertain significance	rs1007193620	RCV001043730;	N	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:0013398,MedGen:C31510	14	73637686	73637686	14:g.73637686C>G	-
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)	5663	PSEN1	Pathogenic	-1	RCV002876347;	N	MONDO: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:C31510	14	73637691	73637691	NC_000014.8:g.73637691T>A	-
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)	5663	PSEN1	Uncertain significance	rs63750831	RCV000084287\|RCV001854471;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73637697	73637697	14:g.73637697G>A	ClinGen:CA224990	CN517202 not provided;
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)	5663	PSEN1	Likely pathogenic	rs1897876766	RCV001230382;	N	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:0013398,MedGen:C31510	14	73637725	73637725	14:g.73637725T>G	-
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)	5663	PSEN1	Uncertain significance	-1	RCV002856793;	N	MONDO: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:C31510	14	73637725	73637727	NC_000014.8:g.73637725_73637727del	-
NM_000021.4(PSEN1):c.321C>G (p.Thr107=)	5663	PSEN1	Benign	rs139863395	RCV000712870\|RCV001081579;	N	MedGen:CN517202\|MONDO: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:00133	14	73637738	73637738	NC_000014.8:g.73637738C>G	-
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	5663	PSEN1	Likely pathogenic	rs63751399	RCV000019775\|RCV000020084\|RCV000084292\|RCV001228362;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020\|MedGen:CN517202\|MONDO:MONDO:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73637755	73637755	14:g.73637755T>C	ClinGen:CA224998,UniProtKB:P49768#VAR_016215,OMIM:104311.0023	C1843013 607822 Alzheimer disease, type 3;
NM_000021.4(PSEN1):c.338+7A>G	5663	PSEN1	Likely pathogenic	rs1897878139	RCV001326693;	N	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:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822	14	73637762	73637762	73637762	-
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)	5663	PSEN1	Pathogenic/Likely pathogenic	rs63750450	RCV000084295\|RCV000640610\|RCV001199924;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640279	73640279	14:g.73640279A>G	ClinGen:CA225002,UniProtKB:P49768#VAR_006416	C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)	5663	PSEN1	Pathogenic	rs63750730	RCV000084296\|RCV002514493;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640282	73640282	14:g.73640282C>T	ClinGen:CA225003	CN517202 not provided;
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)	5663	PSEN1	Pathogenic	rs63750730	RCV000816670;	N	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:0013398,MedGen:C31510	14	73640282	73640282	14:g.73640282C>A	-
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)	5663	PSEN1	Pathogenic	rs63750550	RCV000084297\|RCV002514494;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640284	73640284	14:g.73640284C>T	ClinGen:CA225005	CN517202 not provided;
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)	5663	PSEN1	Uncertain significance	-1	RCV003021319;	N	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:C0236642,OMIM:17270	14	73640287	73640287	NC_000014.8:g.73640287T>G	-
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile)	5663	PSEN1	Likely pathogenic	rs1566630791	RCV000782176\|RCV001196175;	N	MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73640291	73640291	14:g.73640291C>T	-
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala)	5663	PSEN1	Likely pathogenic	rs1566630811	RCV000736265;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73640299	73640299	NC_000014.8:g.73640299A>G	-
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)	5663	PSEN1	Uncertain significance	-1	RCV001987911;	N	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:C0236642,OMIM:17270	14	73640302	73640302	73640302	-
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala)	5663	PSEN1	Uncertain significance	-1	RCV001938686;	N	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:0013398,MedGen:C31510	14	73640305	73640305	73640305	-
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)	5663	PSEN1	Uncertain significance	-1	RCV003062641;	N	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:0013398,MedGen:C31510	14	73640327	73640327	NC_000014.8:g.73640327A>G	-
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)	5663	PSEN1	Uncertain significance	rs1595002439	RCV000823608;	N	MONDO: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:C31510	14	73640336	73640336	14:g.73640336T>G	-
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)	5663	PSEN1	Likely pathogenic	rs63750353	RCV000084302\|RCV001854472;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640338	73640338	14:g.73640338A>G	ClinGen:CA225012,UniProtKB:P49768#VAR_010121	CN517202 not provided;
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)	5663	PSEN1	Pathogenic/Likely pathogenic	rs63751278	RCV000084303\|RCV000824341;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640339	73640339	NC_000014.8:g.73640339A>G	ClinGen:CA225013	CN517202 not provided;
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)	5663	PSEN1	Likely pathogenic	rs1566630884	RCV000736260;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73640344	73640344	NC_000014.8:g.73640344G>A	-
NM_000021.4(PSEN1):c.426C>T (p.Val142_Ile143=)	5663	PSEN1	Likely benign	-1	RCV002974992;	N	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:0013398,MedGen:C31510	14	73640361	73640361	NC_000014.8:g.73640361C>T	-
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)	5663	PSEN1	Likely pathogenic	-1	RCV003062642;	N	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:0013398,MedGen:C31510	14	73640362	73640362	NC_000014.8:g.73640362A>G	-
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	5663	PSEN1	Pathogenic	rs63750004	RCV000084308\|RCV001071503;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640363	73640363	14:g.73640363T>C	ClinGen:CA225019,UniProtKB:P49768#VAR_006424	CN517202 not provided;
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)	5663	PSEN1	Pathogenic	rs63750391	RCV000084311\|RCV001854473;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73640373	73640373	14:g.73640373G>T	ClinGen:CA225023,UniProtKB:P49768#VAR_006425	CN517202 not provided;
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)	5663	PSEN1	Uncertain significance	-1	RCV001878087;	N	MONDO: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:C31510	14	73640377	73640377	73640377	-
NM_000021.4(PSEN1):c.459G>T (p.Leu153=)	5663	PSEN1	Likely benign	-1	RCV002200941;	N	MONDO: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:C31510	14	73640394	73640394	73640394	-
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)	5663	PSEN1	Uncertain significance	-1	RCV003026832;	N	MONDO: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:17270	14	73640401	73640401	NC_000014.8:g.73640401T>C	-
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)	5663	PSEN1	Uncertain significance	rs1897961716	RCV001067591;	N	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:0013398,MedGen:C31510	14	73640410	73640410	14:g.73640410T>C	-
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)	5663	PSEN1	Pathogenic	-1	RCV003062643;	N	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:0013398,MedGen:C31510	14	73640411	73640411	NC_000014.8:g.73640411A>T	-
NM_000021.4(PSEN1):c.480+17G>A	5663	PSEN1	Likely benign	-1	RCV002177731;	N	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:0013398,MedGen:C31510	14	73640432	73640432	73640432	-
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)	5663	PSEN1	Uncertain significance	rs1898533739	RCV001070299;	N	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:0013398,MedGen:C31510	14	73653565	73653565	14:g.73653565T>G	-
NM_000021.4(PSEN1):c.501T>C (p.Ile167=)	5663	PSEN1	Likely benign	-1	RCV002211723;	N	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:C0236642,OMIM:17270	14	73653581	73653581	73653581	-
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)	5663	PSEN1	Pathogenic	rs63751210	RCV000084325\|RCV002513897;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73653586	73653586	14:g.73653586C>T	ClinGen:CA225045,UniProtKB:P49768#VAR_006430	CN517202 not provided;
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)	5663	PSEN1	Uncertain significance	rs63750577	RCV001047251;	N	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:C0236642,OMIM:17270	14	73653589	73653589	14:g.73653589C>A	-
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)	5663	PSEN1	Pathogenic	rs63750963	RCV000084327\|RCV002514495;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73653592	73653592	14:g.73653592T>C	ClinGen:CA225048,UniProtKB:P49768#VAR_006432	CN517202 not provided;
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del)	5663	PSEN1	Uncertain significance	rs1595026031	RCV000850226;	N	MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73653594	73653596	14:g.73653594_73653596del	-
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)	5663	PSEN1	Pathogenic	rs63749806	RCV000084333\|RCV002513898;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73653610	73653610	14:g.73653610T>C	ClinGen:CA225057,UniProtKB:P49768#VAR_075264	CN517202 not provided;
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)	5663	PSEN1	Uncertain significance	rs63750155	RCV000084334\|RCV000640607;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73653612	73653612	14:g.73653612T>C	ClinGen:CA225059,UniProtKB:P49768#VAR_075265	C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.537C>T (p.Phe179_Ile180=)	5663	PSEN1	Likely benign	-1	RCV002633109;	N	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:0013398,MedGen:C31510	14	73653617	73653617	NC_000014.8:g.73653617C>T	-
NM_000021.4(PSEN1):c.549-19C>A	5663	PSEN1	Likely benign	-1	RCV002162588;	N	MONDO: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:17270	14	73659333	73659333	73659333	-
NM_000021.4(PSEN1):c.549-4dup	5663	PSEN1	Benign	-1	RCV002213215;	N	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:C0236642,OMIM:17270	14	73659340	73659341	73659340	-
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)	5663	PSEN1	Uncertain significance	-1	RCV003037455;	N	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:0013398,MedGen:C31510	14	73659353	73659353	NC_000014.8:g.73659353G>A	-
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)	5663	PSEN1	Pathogenic	rs63750311	RCV000084336\|RCV001857411;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73659355	73659355	14:g.73659355A>C	ClinGen:CA225063	CN517202 not provided;
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)	5663	PSEN1	Uncertain significance	-1	RCV001917495;	N	Human 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:17270	14	73659363	73659363	73659363	-
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys)	5663	PSEN1	Uncertain significance	rs556147068	RCV001325814;	N	MONDO: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:17270	14	73659369	73659369	73659369	-
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)	5663	PSEN1	Uncertain significance	-1	RCV001961930;	N	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:0013398,MedGen:C31510	14	73659374	73659374	73659374	-
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)	5663	PSEN1	Uncertain significance	rs543391977	RCV000813898;	N	MONDO: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:17270	14	73659425	73659425	14:g.73659425G>T	-
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)	5663	PSEN1	Pathogenic	rs63750053	RCV000084340\|RCV000640604;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73659429	73659429	14:g.73659429G>T	ClinGen:CA225070,UniProtKB:P49768#VAR_006433	C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)	5663	PSEN1	Likely pathogenic	rs1555355250	RCV000712873\|RCV001055042;	N	MedGen:CN517202\|MONDO: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:00133	14	73659438	73659438	NC_000014.8:g.73659438C>A	-
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)	5663	PSEN1	Pathogenic	-1	RCV001900646;	N	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:0013398,MedGen:C31510	14	73659443	73659443	73659443	-
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)	5663	PSEN1	Uncertain significance	-1	RCV002918620;	N	MONDO: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:17270	14	73659482	73659482	NC_000014.8:g.73659482A>G	-
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)	5663	PSEN1	Uncertain significance	-1	RCV002966311;	N	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:0013398,MedGen:C31510	14	73659482	73659482	NC_000014.8:g.73659482A>C	-
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)	5663	PSEN1	Likely pathogenic	rs63749836	RCV000084352\|RCV000763347;	N	MedGen:CN517202\|MONDO: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:C02	14	73659494	73659494	14:g.73659494G>A	UniProtKB:P49768#VAR_006435,ClinGen:CA225090	CN517202 not provided;
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)	5663	PSEN1	Pathogenic/Likely pathogenic	rs1362575880	RCV001289155\|RCV001378264;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184	14	73659548	73659548	73659548	-
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)	5663	PSEN1	Likely pathogenic	-1	RCV001980594;	N	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:0013398,MedGen:C31510	14	73659548	73659548	73659548	-
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)	5663	PSEN1	Pathogenic	-1	RCV002037964;	N	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:0013398,MedGen:C31510	14	73659553	73659553	73659553	-
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)	5663	PSEN1	Pathogenic	-1	RCV003112298;	N	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:0013398,MedGen:C31510	14	73659569	73659569	NC_000014.8:g.73659569T>A	-
NM_000021.4(PSEN1):c.768T>C (p.Tyr256_Asp257=)	5663	PSEN1	Uncertain significance	-1	RCV003056903;	N	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:0013398,MedGen:C31510	14	73659571	73659571	NC_000014.8:g.73659571T>C	-
NM_000021.4(PSEN1):c.774A>G (p.Leu258_Val259=)	5663	PSEN1	Likely benign	-1	RCV002623943;	N	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:0013398,MedGen:C31510	14	73664743	73664743	NC_000014.8:g.73664743A>G	-
NM_000021.4(PSEN1):c.792G>T (p.Pro264=)	5663	PSEN1	Conflicting interpretations of pathogenicity	rs150301281	RCV000896851\|RCV001115471\|RCV001115472;	N	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:0013398,MedGen:C31510	14	73664761	73664761	14:g.73664761G>T	-
NM_000021.4(PSEN1):c.792G>A (p.Pro264_Lys265=)	5663	PSEN1	Likely benign	-1	RCV002726172;	N	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:0013398,MedGen:C31510	14	73664761	73664761	NC_000014.8:g.73664761G>A	-
NM_000021.4(PSEN1):c.798T>A (p.Gly266=)	5663	PSEN1	Likely benign	-1	RCV001453064;	N	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:0013398,MedGen:C31510	14	73664767	73664767	73664767	-
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)	5663	PSEN1	Likely pathogenic	rs63750779	RCV000084372\|RCV001261442\|RCV002514496;	N	MedGen:CN517202\|MONDO:MONDO:0011913,MedGen:C1843013,OMIM:607822, Orphanet:1020\|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:0013	14	73664769	73664769	14:g.73664769C>T	ClinGen:CA225119	CN517202 not provided;
NM_000021.4(PSEN1):c.801A>G (p.Pro267=)	5663	PSEN1	Likely benign	-1	RCV002114861;	N	MONDO: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:C31510	14	73664770	73664770	73664770	-
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)	5663	PSEN1	Uncertain significance	-1	RCV002721819;	N	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:0013398,MedGen:C31510	14	73664776	73664777	NC_000014.8:g.73664777_73664779dup	-
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)	5663	PSEN1	Uncertain significance	-1	RCV002290176;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73664777	73664777	73664777	-
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr)	5663	PSEN1	Uncertain significance	rs1899028511	RCV001325624;	N	MONDO: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:C31510	14	73664778	73664778	73664778	-
NM_000021.4(PSEN1):c.813G>T (p.Leu271=)	5663	PSEN1	Likely benign	rs757698754	RCV000931407\|RCV001505453;	N	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:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:00133	14	73664782	73664782	14:g.73664782G>T	-
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg)	5663	PSEN1	Uncertain significance	rs63750284	RCV000084378\|RCV001857412;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73664790	73664790	14:g.73664790C>G	ClinGen:CA225127,UniProtKB:P49768#VAR_075271	CN517202 not provided;
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)	5663	PSEN1	Uncertain significance	-1	RCV002625228;	N	MONDO: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:C31510	14	73664811	73664811	NC_000014.8:g.73664811C>T	-
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)	5663	PSEN1	Pathogenic	-1	RCV002601742;	N	MONDO: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:17270	14	73664814	73664814	NC_000014.8:g.73664814T>C	-
NM_000021.4(PSEN1):c.868+16G>T	5663	PSEN1	Benign	rs165932	RCV000250323\|RCV001513933\|RCV001682946\|RCV001789241\|RCV001789237\|RCV001789238\|RCV001789239\|RCV001789240;	N	MedGen:CN169374\|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:172700, Orphanet:282; MONDO:MONDO:0011913,MedGen:C184	14	73664853	73664853	14:g.73664853G>T	ClinGen:CA7256838	CN169374 not specified;
NC_000014.8:g.(?_73673074)_(73673200_?)del	5663	PSEN1	Pathogenic	-1	RCV001958815;	N	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:0013398,MedGen:C31510	14	73673074	73673200	-1	-
NM_000021.4(PSEN1):c.869-3C>A	5663	PSEN1	Uncertain significance	-1	RCV001875732;	N	MONDO: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:C31510	14	73673091	73673091	73673091	-
NM_000021.4(PSEN1):c.869-2A>T	5663	PSEN1	Pathogenic	rs1566650594	RCV000703026;	N	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:0013398,MedGen:C31510	14	73673092	73673092	14:g.73673092A>T	-	C3151038 613737 Acne inversa, familial, 3;
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)	5663	PSEN1	Uncertain significance	-1	RCV002917221;	N	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:C0236642,OMIM:17270	14	73673096	73673096	NC_000014.8:g.73673096A>G	-
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)	5663	PSEN1	Uncertain significance	-1	RCV002780497;	N	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:0013398,MedGen:C31510	14	73673101	73673101	NC_000014.8:g.73673101G>C	-
NM_000021.4(PSEN1):c.906C>T (p.Asp302_Pro303=)	5663	PSEN1	Likely benign	-1	RCV002721491;	N	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:0013398,MedGen:C31510	14	73673131	73673131	NC_000014.8:g.73673131C>T	-
NM_000021.4(PSEN1):c.909G>A (p.Pro303=)	5663	PSEN1	Likely benign	-1	RCV002095667;	N	MONDO: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:17270	14	73673134	73673134	73673134	-
NM_000021.4(PSEN1):c.918A>C (p.Gln306His)	5663	PSEN1	Uncertain significance	-1	RCV001968059;	N	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:C0236642,OMIM:17270	14	73673143	73673143	73673143	-
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg)	5663	PSEN1	Uncertain significance	-1	RCV001871297;	N	Human 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:C31510	14	73673157	73673157	73673157	-
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)	5663	PSEN1	Uncertain significance	-1	RCV003057230;	N	Human 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:C31510	14	73673161	73673161	NC_000014.8:g.73673161T>G	-
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)	5663	PSEN1	Uncertain significance	-1	RCV001965128;	N	MONDO: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:C31510	14	73673180	73673180	73673180	-
NM_000021.4(PSEN1):c.956-20A>C	5663	PSEN1	Likely benign	-1	RCV002098681;	N	MONDO: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:C31510	14	73678457	73678457	73678457	-
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg)	5663	PSEN1	Uncertain significance	-1	RCV001910054;	N	MONDO: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:C31510	14	73678524	73678524	73678524	-
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)	5663	PSEN1	Uncertain significance	rs63751174	RCV000518371\|RCV001314550;	N	MedGen: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:00133	14	73678594	73678594	14:g.73678594G>C	ClinGen:CA262618753	CN169374 not specified;
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)	5663	PSEN1	Uncertain significance	rs199715992	RCV000797696\|RCV001116884\|RCV001116885;	N	MONDO: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:17270	14	73678599	73678599	14:g.73678599G>A	-
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu)	5663	PSEN1	Uncertain significance	-1	RCV001864898;	N	MONDO: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:17270	14	73678602	73678602	73678602	-
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)	5663	PSEN1	Uncertain significance	-1	RCV003014654;	N	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:0013398,MedGen:C31510	14	73678615	73678615	NC_000014.8:g.73678615C>T	-
NM_000021.4(PSEN1):c.1107C>T (p.Leu369_Ala370=)	5663	PSEN1	Likely benign	-1	RCV002610703;	N	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:0013398,MedGen:C31510	14	73678628	73678628	NC_000014.8:g.73678628C>T	-
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)	5663	PSEN1	Pathogenic	-1	RCV002014803;	N	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:C0236642,OMIM:17270	14	73678650	73678650	73678650	-
NM_000021.4(PSEN1):c.1130-13del	5663	PSEN1	Likely benign	-1	RCV003087447;	N	MONDO: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:C31510	14	73683820	73683820	NC_000014.8:g.73683821del	-
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)	5663	PSEN1	Pathogenic	rs63751416	RCV000084402\|RCV002513899;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73683878	73683878	14:g.73683878C>G	ClinGen:CA225167,UniProtKB:P49768#VAR_006457	CN517202 not provided;
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)	5663	PSEN1	Pathogenic	rs63750929	RCV000084404\|RCV002513900;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73683885	73683885	14:g.73683885G>T	ClinGen:CA225170,UniProtKB:P49768#VAR_075276	CN517202 not provided;
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)	5663	PSEN1	Conflicting interpretations of pathogenicity	rs63750227	RCV000084406\|RCV000811198;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0008243,MedGen:C02	14	73683929	73683929	NC_000014.8:g.73683929G>A	ClinGen:CA225173,UniProtKB:P49768#VAR_009213	CN517202 not provided;
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val)	5663	PSEN1	Uncertain significance	rs777734426	RCV001324627;	N	MONDO: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:17270	14	73683944	73683944	73683944	-
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)	5663	PSEN1	Conflicting interpretations of pathogenicity	rs63750083	RCV000084412\|RCV002288582;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	14	73685885	73685885	14:g.73685885C>T	ClinGen:CA225182	CN517202 not provided;
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)	5663	PSEN1	Conflicting interpretations of pathogenicity	rs764971634	RCV001289154\|RCV001871727;	N	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:0013398,MedGen:C3151038,OMIM:613737; MONDO:MONDO:0011913,MedGen:C184	14	73685902	73685902	73685902	-
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=)	5663	PSEN1	Likely benign	rs201453174	RCV002541013;	N	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:0013398,MedGen:C31510	14	73685904	73685904	14:g.73685904C>T	-
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=)	5663	PSEN1	Likely benign	-1	RCV002152736;	N	Human 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:C31510	14	73685940	73685940	73685940	-
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)	5663	PSEN1	Uncertain significance	rs1430581353	RCV000805834;	N	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:C0236642,OMIM:17270	14	73685962	73685962	14:g.73685962A>G	-
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)	5663	PSEN1	Conflicting interpretations of pathogenicity	-1	RCV002043451\|RCV002486747;	N	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:C0236642,OMIM:17270	14	73685970	73685970	73685970	-
NM_000021.4(PSEN1):c.1386C>T (p.Phe462_His463=)	5663	PSEN1	Benign	-1	RCV003014952;	N	MONDO: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:C31510	14	73685979	73685979	NC_000014.8:g.73685979C>T	-
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)	23064	SETX	Uncertain significance	-1	RCV001848614\|RCV002440902;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MeSH:D030342,MedGen:C0950123	9	135205871	135205871	135205871	-
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)	23064	SETX	Likely benign	-1	RCV001848607\|RCV002543423;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433, Orphanet:357043; MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002, Orphanet:64753	9	135211763	135211763	135211763	-
NM_007375.4(TARDBP):c.-12-10_-12-9del	23435	TARDBP	Likely benign	rs575825467	RCV000265462\|RCV000360165;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11073761	11073762	NC_000001.10:g.11073763_11073764del	ClinGen:CA586296	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)	23435	TARDBP	Benign/Likely benign	rs148325203	RCV000353305\|RCV000392664\|RCV000518153\|RCV000875373\|RCV001096237\|RCV002450837;	N	Human 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:C267	1	11082564	11082564	NC_000001.10:g.11082564C>G	ClinGen:CA586484	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)	23435	TARDBP	Likely pathogenic	rs1570725499	RCV000986235;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11082595	11082595	1:g.11082595T>C	-
NM_007375.4(TARDBP):c.*208G>A	23435	TARDBP	Benign/Likely benign	rs148414479	RCV000269531\|RCV000364084\|RCV001097985\|RCV001555101;	N	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:803\|MedGen:CN517202	1	11082919	11082919	NC_000001.10:g.11082919G>A	ClinGen:CA10607296	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*505del	23435	TARDBP	Uncertain significance	rs886045038	RCV000294216\|RCV000330501;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11083213	11083213	NC_000001.10:g.11083216del	ClinGen:CA10607397	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.1597_1600del	23435	TARDBP	Uncertain significance	rs748047297	RCV000274024\|RCV000368674;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11084306	11084309	NC_000001.10:g.11084308_11084311del	ClinGen:CA10607302	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*1633del	23435	TARDBP	Uncertain significance	rs886045043	RCV000261200\|RCV000316450;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11084334	11084334	NC_000001.10:g.11084344del	ClinGen:CA10607309	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*2538del	23435	TARDBP	Uncertain significance	rs886045050	RCV000344401\|RCV000389658;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11085248	11085248	NC_000001.10:g.11085249del	ClinGen:CA10607317	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_007375.4(TARDBP):c.*2829dup	23435	TARDBP	Uncertain significance	rs886045051	RCV000298127\|RCV000359870;	N	MedGen:CN239175\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	1	11085531	11085532	NC_000001.10:g.11085540dup	ClinGen:CA10607287	CN239175 Amyotrophic Lateral Sclerosis, Dominant;
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu)	80213	TM2D3	Uncertain significance	rs140152371	RCV001090112;	N	MeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	15	102190328	102190328	15:g.102190328G>A	-
NM_003985.6(TNK1):c.393C>G (p.His131Gln)	8711	TNK1	Uncertain significance	rs767381816	RCV001090113;	N	MeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	17	7286902	7286902	17:g.7286902C>G	-
NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)	54209	TREM2	Pathogenic	-1	RCV001810084;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	6	41126693	41126693	41126693	-
NM_018965.4(TREM2):c.117C>G (p.Asp39Glu)	54209	TREM2	Uncertain significance	rs200392967	RCV001154721\|RCV001847172\|RCV002032426;	N	MONDO:MONDO:0020750,MedGen:C4748657,OMIM:618193\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	6	41129275	41129275	6:g.41129275G>C	-
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)	54832	VPS13C	Conflicting interpretations of pathogenicity	rs138846118	RCV001090104\|RCV002223989;	N	MeSH:D000544,MedGen:C0750901; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|MedGen:CN517202	15	62148607	62148607	15:g.62148607G>A	-

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