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: Amyotrophic Lateral Sclerosis (D000690)
Parent Node: Frontotemporal Dementia (D057180)
..Starting node ..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
..AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
..AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
..Amyotrophic Lateral Sclerosis 6, Autosomal Recessive (C567699)
..Chromosome 3-Linked Frontotemporal Dementia (C579991)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 (OMIM:616437)
..FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 (OMIM:616439)
..Frontotemporal Dementia With Motor Neuron Disease (C566288)
..Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
..Pallidopontonigral Degeneration (C563003)
..Pick Disease of the Brain (D020774)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4890

Name:

FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4

Definition:

Alternative IDs:

DO:DOID:0110069

ParentIDs:

MESH:D000690|MESH:D057180

TreeNumbers:

C10.228.140.380.266.299/616439 |C10.228.854.139/616439 |C10.574.562.250/616439 |C10.574.950.050/616439 |C10.574.950.300.299/616439 |C10.668.467.250/616439 |C18.452.845.800.050/616439 |C18.452.845.800.300.299/616439 |F03.615.400.380.299/616439

Synonyms:

FTDALS4

Slim Mappings:

Mental disorder|Metabolic disease|Nervous system disease

Reference:

MedGen: 616439
MeSH: 616439
OMIM: 616439;
MSeqDR :
Genes: HOXA13;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002366	Abnormal lower motor neuron morphology
4	HP:0007354	Amyotrophic lateral sclerosis
5	HP:0000741	Apathy
6	HP:0001283	Bulbar palsy
7	HP:0002120	Cerebral cortical atrophy
8	HP:0000734	Disinhibition
9	HP:0001260	Dysarthria NAMDC: Dysarthria
10	HP:0002015	Dysphagia NAMDC: Dysphagia
11	HP:0002380	Fasciculations
12	HP:0002145	Frontotemporal dementia
13	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
14	HP:0001265	Hyporeflexia
15	HP:0002463	Language impairment
16	HP:0002300	Mutism
17	HP:0000751	Personality changes
18	HP:0003812	Phenotypic variability
19	HP:0003676	Progressive
20	HP:0003202	Skeletal muscle atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)	3798	KIF5A	Conflicting interpretations of pathogenicity	rs1882640177	RCV001095391\|RCV002555972;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	12	57976397	57976397	12:g.57976397A>G	-
NC_000012.11:g.(?_64849651)_(64854129_?)del	29110	TBK1	Pathogenic	-1	RCV003116626;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849651	64854129		-
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)	29110	TBK1	Pathogenic	-1	RCV003058387;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849654	64849654	NC_000012.11:g.64849654C>T	-
NM_013254.4(TBK1):c.9C>T (p.Ser3=)	29110	TBK1	Benign	rs115692983	RCV000652987\|RCV001709681;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64849659	64849659	NC_000012.11:g.64849659C>T	ClinGen:CA6668694	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.40A>G (p.Ile14Val)	29110	TBK1	Uncertain significance	rs781325780	RCV000546706;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849690	64849690	12:g.64849690A>G	ClinGen:CA6668702	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr)	29110	TBK1	Uncertain significance	-1	RCV001941406;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849691	64849691	64849691	-
NM_013254.4(TBK1):c.51A>G (p.Gln17=)	29110	TBK1	Uncertain significance	-1	RCV001940365;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849701	64849701	64849701	-
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp)	29110	TBK1	Uncertain significance	-1	RCV001965440;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849714	64849714	64849714	-
NM_013254.4(TBK1):c.66T>C (p.Asn22=)	29110	TBK1	Benign	rs41292019	RCV000530892\|RCV000625497\|RCV001683590\|RCV001579616;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|Gene:101448070,MONDO:MONDO:0008328,MedGen:C3888338,OMIM:177700\|MedGen:CN517202\|MedGen:CN169374	12	64849716	64849716	12:g.64849716T>C	ClinGen:CA6668705	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.72dup (p.Arg25fs)	29110	TBK1	Pathogenic	-1	RCV001892768;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849719	64849720	64849719	-
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)	29110	TBK1	Uncertain significance	-1	RCV002820866;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849729	64849729	NC_000012.11:g.64849729A>G	-
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe)	29110	TBK1	Uncertain significance	-1	RCV001973136;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849732	64849733	64849732	-
NM_013254.4(TBK1):c.86dup (p.Lys30fs)	29110	TBK1	Pathogenic	rs1592350883	RCV000995894;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849734	64849735	12:g.64849734_64849735insA	-
NM_013254.4(TBK1):c.87G>A (p.Lys29=)	29110	TBK1	Pathogenic	rs1592350887	RCV000995895;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849737	64849737	12:g.64849737G>A	-
NM_013254.4(TBK1):c.87+8C>T	29110	TBK1	Likely benign	rs148982416	RCV000874784;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849745	64849745	12:g.64849745C>T	-
NM_013254.4(TBK1):c.87+17C>T	29110	TBK1	Likely benign	-1	RCV002756542;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64849754	64849754	NC_000012.11:g.64849754C>T	-
NM_013254.4(TBK1):c.88-9T>C	29110	TBK1	Likely benign	-1	RCV002121184;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64853960	64853960	64853960	-
NM_013254.4(TBK1):c.94G>A (p.Gly32Ser)	29110	TBK1	Uncertain significance	-1	RCV001809181;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64853975	64853975	64853975	-
NM_013254.4(TBK1):c.108T>C (p.Ala36=)	29110	TBK1	Benign	rs202056661	RCV000876873\|RCV001521386;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64853989	64853989	12:g.64853989T>C	-
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser)	29110	TBK1	Uncertain significance	-1	RCV002042511;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64853991	64853991	64853991	-
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)	29110	TBK1	Uncertain significance	-1	RCV001948003;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854006	64854006	64854006	-
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)	29110	TBK1	Uncertain significance	-1	RCV002607944;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854009	64854009	NC_000012.11:g.64854009T>G	-
NM_013254.4(TBK1):c.135C>T (p.Phe45=)	29110	TBK1	Benign/Likely benign	rs11538420	RCV000877984\|RCV001569066;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64854016	64854016	12:g.64854016C>T	-
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala)	29110	TBK1	Uncertain significance	-1	RCV001884902;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854023	64854023	64854023	-
NM_013254.4(TBK1):c.153T>C (p.Val51_Gln52=)	29110	TBK1	Likely benign	-1	RCV003020947;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854034	64854034	NC_000012.11:g.64854034T>C	-
NM_013254.4(TBK1):c.172G>A (p.Val58Met)	29110	TBK1	Uncertain significance	-1	RCV001872397;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854053	64854053	64854053	-
NM_013254.4(TBK1):c.175T>C (p.Leu59=)	29110	TBK1	Likely benign	-1	RCV002084581;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854056	64854056	64854056	-
NM_013254.4(TBK1):c.201T>C (p.Ile67_Val68=)	29110	TBK1	Benign	-1	RCV002614660;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854082	64854082	NC_000012.11:g.64854082T>C	-
NM_013254.4(TBK1):c.204C>G (p.Val68_Lys69=)	29110	TBK1	Likely benign	-1	RCV003053782;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854085	64854085	NC_000012.11:g.64854085C>G	-
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)	29110	TBK1	Uncertain significance	-1	RCV002938131;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854098	64854098	NC_000012.11:g.64854098A>G	-
NM_013254.4(TBK1):c.228+4A>C	29110	TBK1	Uncertain significance	-1	RCV001967034;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64854113	64854113	64854113	-
NM_013254.4(TBK1):c.229-4dup	29110	TBK1	Benign	rs57810028	RCV000455230\|RCV000625058\|RCV001515857\|RCV001653816;	N	MedGen:CN169374\|Gene:101448070,MONDO:MONDO:0008328,MedGen:C3888338,OMIM:177700\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64858100	64858101	12:g.64858100_64858101insT	ClinGen:CA6668753	C3888338 177700 Glaucoma 1, open angle, p;
NM_013254.4(TBK1):c.229-14_229-13insC	29110	TBK1	Likely benign	-1	RCV003077928;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858100	64858101	NC_000012.11:g.64858100_64858101insC	-
NM_013254.4(TBK1):c.229-5_229-4dup	29110	TBK1	Benign	-1	RCV002751450;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858100	64858101	NC_000012.11:g.64858109_64858110dup	-
NM_013254.4(TBK1):c.229-9_229-8insG	29110	TBK1	Likely benign	-1	RCV002164346;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858105	64858106	64858105	-
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)	29110	TBK1	Uncertain significance	rs748007618	RCV000684999;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858114	64858116	12:g.64858114_64858116del	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)	29110	TBK1	Uncertain significance	-1	RCV002794819;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858115	64858115	NC_000012.11:g.64858115C>T	-
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)	29110	TBK1	Uncertain significance	-1	RCV002614929;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858138	64858138	NC_000012.11:g.64858138A>G	-
NM_013254.4(TBK1):c.270A>C (p.Pro90_Cys91=)	29110	TBK1	Likely benign	-1	RCV002608857;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858155	64858155	NC_000012.11:g.64858155A>C	-
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)	29110	TBK1	Uncertain significance	-1	RCV003006106;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858171	64858171	NC_000012.11:g.64858171A>G	-
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)	29110	TBK1	Uncertain significance	-1	RCV002842280;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858174	64858174	NC_000012.11:g.64858174G>A	-
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)	29110	TBK1	Pathogenic	-1	RCV002933815;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858185	64858194	NC_000012.11:g.64858185_64858194del	-
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala)	29110	TBK1	Uncertain significance	-1	RCV002014364;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858186	64858186	64858186	-
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys)	29110	TBK1	Uncertain significance	rs1366668789	RCV001171890\|RCV002559646;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858199	64858199	12:g.64858199A>G	-
NM_013254.4(TBK1):c.330T>C (p.Ser110=)	29110	TBK1	Likely benign	rs1592356440	RCV000941917\|RCV001439088;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858215	64858215	12:g.64858215T>C	-
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)	29110	TBK1	Likely pathogenic	-1	RCV001825077;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858234	64858234	64858234	-
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)	29110	TBK1	Uncertain significance	-1	RCV002629046;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858235	64858235	NC_000012.11:g.64858235G>A	-
NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)	29110	TBK1	Likely pathogenic	-1	RCV002283871;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858237	64858237	64858237	-
NM_013254.4(TBK1):c.358+9_358+12del	29110	TBK1	Likely benign	rs769662604	RCV000531831;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858247	64858250	12:g.64858247_64858250del	ClinGen:CA6668771	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.358+4T>C	29110	TBK1	Likely benign	-1	RCV002968152;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858247	64858247	NC_000012.11:g.64858247T>C	-
NM_013254.4(TBK1):c.358+5G>A	29110	TBK1	Uncertain significance	-1	RCV001360981;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858248	64858248	64858248	-
NM_013254.4(TBK1):c.358+13A>G	29110	TBK1	Benign	-1	RCV002882246;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64858256	64858256	NC_000012.11:g.64858256A>G	-
NM_013254.4(TBK1):c.378A>G (p.Leu126=)	29110	TBK1	Likely benign	rs144462850	RCV000875645\|RCV001406370;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860700	64860700	12:g.64860700A>G	-
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln)	29110	TBK1	Uncertain significance	-1	RCV001943817;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860702	64860702	64860702	-
NM_013254.4(TBK1):c.381A>C (p.Arg127=)	29110	TBK1	Likely benign	rs749847349	RCV000960749\|RCV001461254;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860703	64860703	12:g.64860703A>C	-
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)	29110	TBK1	Uncertain significance	-1	RCV003064782;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860707	64860707	NC_000012.11:g.64860707A>T	-
NM_013254.4(TBK1):c.402T>C (p.Arg134_Asp135=)	29110	TBK1	Likely benign	-1	RCV002601775;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860724	64860724	NC_000012.11:g.64860724T>C	-
NM_013254.4(TBK1):c.421dup (p.Ile141fs)	29110	TBK1	Pathogenic	rs1565814492	RCV000703742;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860742	64860743	12:g.64860742_64860743insA	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)	29110	TBK1	Conflicting interpretations of pathogenicity	rs1027249002	RCV000995896;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860749	64860749	12:g.64860749C>T	-
NM_013254.4(TBK1):c.428G>A (p.Arg143His)	29110	TBK1	Uncertain significance	-1	RCV002922060;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860750	64860750	NC_000012.11:g.64860750G>A	-
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala)	29110	TBK1	Uncertain significance	-1	RCV001899484;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860759	64860759	64860759	-
NM_013254.4(TBK1):c.438G>A (p.Gly146=)	29110	TBK1	Likely benign	-1	RCV001502382;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860760	64860760	64860760	-
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	29110	TBK1	Conflicting interpretations of pathogenicity	rs55824172	RCV000492091\|RCV001855019;	N	MONDO:MONDO:0020128,MedGen:C0085084, Orphanet:98503\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860774	64860774	12:g.64860774C>T	ClinGen:CA6668820	C0085084 Motor neuron disease;
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys)	29110	TBK1	Uncertain significance	-1	RCV001998036;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860774	64860774	64860774	-
NM_013254.4(TBK1):c.454G>C (p.Val152Leu)	29110	TBK1	Uncertain significance	-1	RCV001941398;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860776	64860776	64860776	-
NM_013254.4(TBK1):c.511G>A (p.Val171Ile)	29110	TBK1	Uncertain significance	-1	RCV001906925;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860833	64860833	64860833	-
NM_013254.4(TBK1):c.519G>A (p.Leu173=)	29110	TBK1	Benign/Likely benign	rs73313869	RCV000552474\|RCV001560378;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64860841	64860841	NC_000012.11:g.64860841G>A	ClinGen:CA6668826	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile)	29110	TBK1	Uncertain significance	-1	RCV001976758;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860849	64860849	64860849	-
NM_013254.4(TBK1):c.535T>C (p.Tyr179His)	29110	TBK1	Uncertain significance	-1	RCV002014977;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860857	64860857	64860857	-
NM_013254.4(TBK1):c.540+8_540+9del	29110	TBK1	Likely benign	rs761043079	RCV000941328\|RCV001427458;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64860870	64860871	12:g.64860870_64860871del	-
NM_013254.4(TBK1):c.541-9dup	29110	TBK1	Benign/Likely benign	-1	RCV002085259\|RCV002486850;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900; MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64867991	64867992	64867991	-
NM_013254.4(TBK1):c.541-9del	29110	TBK1	Benign/Likely benign	rs369498196	RCV000625498\|RCV001579548\|RCV002060700\|RCV002499015;	N	Gene:101448070,MONDO:MONDO:0008328,MedGen:C3888338,OMIM:177700\|MedGen:CN169374\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900; MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:27587	12	64867992	64867992	12:g.64867992_64867992del	ClinGen:CA6668847	C3888338 177700 Glaucoma 1, open angle, p;
NM_013254.4(TBK1):c.541-18T>C	29110	TBK1	Likely benign	-1	RCV003028564;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64867992	64867992	NC_000012.11:g.64867992T>C	-
NM_013254.4(TBK1):c.541-3T>G	29110	TBK1	Uncertain significance	-1	RCV001899889;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868007	64868007	64868007	-
GRCh37/hg19 12q14.2(chr12:64868010-64895161)	29110	TBK1	Pathogenic	-1	RCV001004099;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868010	64895161		-
NM_013254.4(TBK1):c.550A>G (p.Met184Val)	29110	TBK1	Uncertain significance	-1	RCV003054837;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868019	64868019	NC_000012.11:g.64868019A>G	-
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu)	29110	TBK1	Uncertain significance	-1	RCV001753322\|RCV002540681;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868043	64868043	64868043	-
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)	29110	TBK1	Uncertain significance	-1	RCV003058032;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868060	64868060	NC_000012.11:g.64868060A>C	-
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile)	29110	TBK1	Uncertain significance	-1	RCV001883261;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868098	64868098	64868098	-
NM_013254.4(TBK1):c.630A>T (p.Thr210=)	29110	TBK1	Benign	rs201336522	RCV000873781;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868099	64868099	12:g.64868099A>T	-
NM_013254.4(TBK1):c.683G>A (p.Arg228His)	29110	TBK1	Uncertain significance	rs748622208	RCV001051776;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868152	64868152	12:g.64868152G>A	-
NM_013254.4(TBK1):c.701+1G>A	29110	TBK1	Pathogenic	rs1592362719	RCV000797764\|RCV001843550;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	12	64868171	64868171	12:g.64868171G>A	-
NM_013254.4(TBK1):c.701+2T>G	29110	TBK1	Pathogenic	-1	RCV002927416;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868172	64868172	NC_000012.11:g.64868172T>G	-
NM_013254.4(TBK1):c.701+16A>T	29110	TBK1	Likely benign	-1	RCV002153469;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64868186	64868186	64868186	-
NM_013254.4(TBK1):c.723G>A (p.Lys241=)	29110	TBK1	Likely benign	-1	RCV002092373;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873813	64873813	64873813	-
NM_013254.4(TBK1):c.729T>G (p.Ser243_Gly244=)	29110	TBK1	Likely benign	-1	RCV002595380;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873819	64873819	NC_000012.11:g.64873819T>G	-
NM_013254.4(TBK1):c.734C>T (p.Ala245Val)	29110	TBK1	Uncertain significance	-1	RCV002029249;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873824	64873824	64873824	-
NM_013254.4(TBK1):c.738_739del (p.Ser247fs)	29110	TBK1	Pathogenic	-1	RCV002511171;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873826	64873827	NC_000012.11:g.64873826AT[1]	-
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)	29110	TBK1	Uncertain significance	-1	RCV002898794;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873848	64873848	NC_000012.11:g.64873848A>C	-
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)	29110	TBK1	Uncertain significance	-1	RCV003059241;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873853	64873853	NC_000012.11:g.64873853G>A	-
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr)	29110	TBK1	Uncertain significance	-1	RCV001959918;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873860	64873860	64873860	-
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly)	29110	TBK1	Uncertain significance	rs746971642	RCV000822732\|RCV001809844;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900	12	64873892	64873892	12:g.64873892A>G	-
NM_013254.4(TBK1):c.812G>A (p.Arg271Gln)	29110	TBK1	Likely benign	rs56196591	RCV000652983;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64873902	64873902	NC_000012.11:g.64873902G>A	ClinGen:CA6668900	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NC_000012.11:g.(?_64875602)_(64879817_?)del	29110	TBK1	Pathogenic	-1	RCV001951576;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875602	64879817	-1	-
NM_013254.4(TBK1):c.813-7A>C	29110	TBK1	Conflicting interpretations of pathogenicity	-1	RCV002091831;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875615	64875615	64875615	-
NM_013254.4(TBK1):c.813-3T>C	29110	TBK1	Uncertain significance	rs2040770701	RCV001234770;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875619	64875619	12:g.64875619T>C	-
NM_013254.4(TBK1):c.828A>G (p.Leu276_Leu277=)	29110	TBK1	Likely benign	-1	RCV002957616;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875637	64875637	NC_000012.11:g.64875637A>G	-
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	29110	TBK1	Conflicting interpretations of pathogenicity	rs905184241	RCV000492371\|RCV000520272\|RCV001855020;	N	MONDO:MONDO:0020128,MedGen:C0085084, Orphanet:98503\|MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875638	64875638	NC_000012.11:g.64875638C>G	ClinGen:CA238264724	C0085084 Motor neuron disease;
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu)	29110	TBK1	Uncertain significance	rs34774243	RCV000487810\|RCV001043489;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875680	64875680	12:g.64875680A>G	ClinGen:CA6668918	CN517202 not provided;
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)	29110	TBK1	Uncertain significance	-1	RCV002999090;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875714	64875714	NC_000012.11:g.64875714C>G	-
NM_013254.4(TBK1):c.916C>A (p.Leu306Ile)	29110	TBK1	Benign/Likely benign	rs201970436	RCV000876885\|RCV001593109;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64875725	64875725	12:g.64875725C>A	-
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)	29110	TBK1	Pathogenic	rs1284582102	RCV001095423;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875731	64875731	12:g.64875731C>T	-
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)	29110	TBK1	Pathogenic	-1	RCV002863800;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875753	64875753	NC_000012.11:g.64875753C>A	-
NM_013254.4(TBK1):c.945G>A (p.Ser315=)	29110	TBK1	Likely benign	-1	RCV001408287;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875754	64875754	64875754	-
NM_013254.4(TBK1):c.958del (p.Thr320fs)	29110	TBK1	Pathogenic	rs755950225	RCV000185598;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875767	64875767	12:g.64875767_64875767del	ClinGen:CA6668928,OMIM:604834.0004	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.962C>T (p.Ala321Val)	29110	TBK1	Uncertain significance	-1	RCV001971014;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875771	64875771	64875771	-
NM_013254.4(TBK1):c.964C>T (p.His322Tyr)	29110	TBK1	Conflicting interpretations of pathogenicity	rs145905497	RCV000238938\|RCV000545768;	N	MedGen:CN169374\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875773	64875773	12:g.64875773C>T	ClinGen:CA6668932	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.978T>A (p.Ile326=)	29110	TBK1	Benign	rs7486100	RCV000455777\|RCV000625499\|RCV000834431\|RCV001515858;	N	MedGen:CN169374\|Gene:101448070,MONDO:MONDO:0008328,MedGen:C3888338,OMIM:177700\|MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875787	64875787	NC_000012.11:g.64875787T>A	ClinGen:CA6668934	C3888338 177700 Glaucoma 1, open angle, p;
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile)	29110	TBK1	Uncertain significance	rs200758840	RCV000560570\|RCV001775873;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64875801	64875801	12:g.64875801C>T	ClinGen:CA6668937	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.992+1G>A	29110	TBK1	Pathogenic	rs1341055534	RCV000995897\|RCV001196463;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900	12	64875802	64875802	12:g.64875802G>A	-
NM_013254.4(TBK1):c.992+13A>G	29110	TBK1	Benign	-1	RCV002948809;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875814	64875814	NC_000012.11:g.64875814A>G	-
NM_013254.4(TBK1):c.992+21_992+23del	29110	TBK1	Benign	-1	RCV002089133;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64875817	64875819	64875816	-
NM_013254.4(TBK1):c.996T>A (p.Ala332=)	29110	TBK1	Likely benign	-1	RCV001392164\|RCV001788470;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64878086	64878086	64878086	-
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)	29110	TBK1	Uncertain significance	-1	RCV003011446;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878118	64878118	NC_000012.11:g.64878118C>G	-
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr)	29110	TBK1	Uncertain significance	-1	RCV002252736\|RCV001958033;	N	\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878127	64878127	64878127	-
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val)	29110	TBK1	Uncertain significance	-1	RCV001892864;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878147	64878147	64878147	-
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)	29110	TBK1	Uncertain significance	-1	RCV002647269;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878148	64878148	NC_000012.11:g.64878148T>C	-
NM_013254.4(TBK1):c.1062C>T (p.Tyr354=)	29110	TBK1	Likely benign	-1	RCV002119202;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878152	64878152	64878152	-
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)	29110	TBK1	Pathogenic	rs1328949478	RCV000760459\|RCV002536579;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878159	64878159	NC_000012.11:g.64878159C>T	-
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)	29110	TBK1	Pathogenic	-1	RCV002000195;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878160	64878160	64878160	-
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys)	29110	TBK1	Uncertain significance	rs780192375	RCV000810739;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878162	64878162	12:g.64878162C>T	-
NM_013254.4(TBK1):c.1073G>A (p.Arg358His)	29110	TBK1	Likely benign	rs374208742	RCV001058696;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878163	64878163	12:g.64878163G>A	-
NM_013254.4(TBK1):c.1089T>C (p.Pro363_Gly364=)	29110	TBK1	Likely benign	-1	RCV003070108;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878179	64878179	NC_000012.11:g.64878179T>C	-
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu)	29110	TBK1	Uncertain significance	-1	RCV001901845;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878181	64878181	64878181	-
NM_013254.4(TBK1):c.1110C>T (p.Phe370=)	29110	TBK1	Benign/Likely benign	rs143590388	RCV000524582\|RCV001580092;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64878200	64878200	12:g.64878200C>T	ClinGen:CA6668973	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1116A>G (p.Lys372=)	29110	TBK1	Uncertain significance	rs775134475	RCV000692692;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878206	64878206	NC_000012.11:g.64878206A>G	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile)	29110	TBK1	Uncertain significance	rs1592369002	RCV000800054;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878238	64878238	12:g.64878238G>T	-
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)	29110	TBK1	Uncertain significance	-1	RCV001964696\|RCV002503642;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900; MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878240	64878240	64878240	-
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	29110	TBK1	Pathogenic/Likely pathogenic	rs765106259	RCV001328679;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878243	64878243	64878243	-
NM_013254.4(TBK1):c.1176A>G (p.Leu392=)	29110	TBK1	Likely benign	rs141806113	RCV000539427\|RCV002060363;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878266	64878266	12:g.64878266A>G	ClinGen:CA6668983	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met)	29110	TBK1	Uncertain significance	rs755520364	RCV001239173;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878269	64878269	12:g.64878269A>G	-
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp)	29110	TBK1	Uncertain significance	rs1267274595	RCV001347468;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878270	64878270	64878270	-
NM_013254.4(TBK1):c.1189+1G>T	29110	TBK1	Likely pathogenic	-1	RCV002039154;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878280	64878280	64878280	-
NM_013254.4(TBK1):c.1189+1G>A	29110	TBK1	Likely pathogenic	-1	RCV002019738;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878280	64878280	64878280	-
NM_013254.4(TBK1):c.1189+10G>A	29110	TBK1	Benign	rs185457813	RCV000876874;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64878289	64878289	12:g.64878289G>A	-
NM_013254.4(TBK1):c.1190-9A>G	29110	TBK1	Likely benign	rs375547018	RCV000652985;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879226	64879226	NC_000012.11:g.64879226A>G	ClinGen:CA6669000	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr)	29110	TBK1	Uncertain significance	-1	RCV001768375\|RCV001868745;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879235	64879235	64879235	-
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)	29110	TBK1	Uncertain significance	rs756751089	RCV000185601;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879246	64879246	12:g.64879246A>G	ClinGen:CA203891,UniProtKB:Q9UHD2#VAR_073943,OMIM:604834.0007	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1206A>G (p.Val402_His403=)	29110	TBK1	Likely benign	-1	RCV002572697;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879251	64879251	NC_000012.11:g.64879251A>G	-
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr)	29110	TBK1	Conflicting interpretations of pathogenicity	-1	RCV001755326\|RCV002540614;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879252	64879252	64879252	-
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)	29110	TBK1	Uncertain significance	-1	RCV002876871;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879264	64879264	NC_000012.11:g.64879264G>C	-
NM_013254.4(TBK1):c.1227C>T (p.Asp409=)	29110	TBK1	Benign	rs150609728	RCV000874258;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879272	64879272	12:g.64879272C>T	-
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)	29110	TBK1	Uncertain significance	-1	RCV002603395;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879273	64879273	NC_000012.11:g.64879273G>A	-
NM_013254.4(TBK1):c.1234del (p.Ala412fs)	29110	TBK1	Pathogenic	-1	RCV003026167;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879279	64879279	NC_000012.11:g.64879279del	-
NM_013254.4(TBK1):c.1248+18T>A	29110	TBK1	Likely benign	-1	RCV002633322;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879311	64879311	NC_000012.11:g.64879311T>A	-
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)	29110	TBK1	Uncertain significance	-1	RCV003021275;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879714	64879715	NC_000012.11:g.64879716_64879721dup	-
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile)	29110	TBK1	Uncertain significance	rs201332131	RCV001301000;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879718	64879718	64879718	-
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer)	29110	TBK1	Pathogenic	-1	RCV001972841;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879729	64879729	64879728	-
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile)	29110	TBK1	Uncertain significance	-1	RCV001965514;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879749	64879749	64879749	-
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)	29110	TBK1	Pathogenic	-1	RCV003019974;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879762	64879762	NC_000012.11:g.64879762T>A	-
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)	29110	TBK1	Pathogenic	rs769588220	RCV001291944;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879775	64879775	64879775	-
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln)	29110	TBK1	Uncertain significance	-1	RCV001898440;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879778	64879778	64879778	-
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	29110	TBK1	Pathogenic; other	rs142030898	RCV000492391\|RCV000760460\|RCV001859503;	N	MONDO:MONDO:0020128,MedGen:C0085084, Orphanet:98503\|MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879787	64879787	NC_000012.11:g.64879787C>T	ClinGen:CA6669034	C0085084 Motor neuron disease;
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)	29110	TBK1	Pathogenic	-1	RCV001901321;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879792	64879792	64879792	-
NM_013254.4(TBK1):c.1340+1G>A	29110	TBK1	Pathogenic	rs767898276	RCV000185599;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879798	64879798	12:g.64879798G>A	ClinGen:CA6669037,OMIM:604834.0005	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1340+3A>G	29110	TBK1	Uncertain significance	-1	RCV002624557;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879800	64879800	NC_000012.11:g.64879800A>G	-
NM_013254.4(TBK1):c.1340+8A>G	29110	TBK1	Likely benign	-1	RCV002130682;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879805	64879805	64879805	-
NM_013254.4(TBK1):c.1340+13T>C	29110	TBK1	Likely benign	-1	RCV002169025;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64879810	64879810	64879810	-
NM_013254.4(TBK1):c.1341-10_1341-9del	29110	TBK1	Uncertain significance	-1	RCV002746163;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882256	64882257	NC_000012.11:g.64882257_64882258del	-
NM_013254.4(TBK1):c.1341-3del	29110	TBK1	Benign	rs201728462	RCV000554302\|RCV001540559;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64882258	64882258	NC_000012.11:g.64882264del	ClinGen:CA6669044	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1341-1G>C	29110	TBK1	Likely pathogenic	-1	RCV002863152;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882266	64882266	NC_000012.11:g.64882266G>C	-
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)	29110	TBK1	Pathogenic	rs876657404	RCV000185595;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882269	64882272	12:g.64882269_64882272del	ClinGen:CA10575726,OMIM:604834.0001	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu)	29110	TBK1	Uncertain significance	rs1565821771	RCV000688383;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882285	64882285	NC_000012.11:g.64882285T>G	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1382dup (p.Thr462fs)	29110	TBK1	Pathogenic	-1	RCV001874314;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882303	64882304	64882303	-
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs)	29110	TBK1	Pathogenic	rs1555204731	RCV000652982\|RCV001824857;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:C0339573,OMIM:137760; MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551, Orphanet:1930; MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872; MONDO:MONDO:0054754,MedGen:C4693542	12	64882312	64882313	12:g.64882312_64882313del	ClinGen:CA605378688	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)	29110	TBK1	Benign/Likely benign	rs35635889	RCV000528199\|RCV000625059\|RCV001564266\|RCV001579525;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|Gene:101448070,MONDO:MONDO:0008328,MedGen:C3888338,OMIM:177700\|MedGen:CN517202\|MedGen:CN169374	12	64882317	64882317	12:g.64882317T>C	ClinGen:CA6669048	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser)	29110	TBK1	Uncertain significance	rs369875862	RCV000652981;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882338	64882338	NC_000012.11:g.64882338G>C	ClinGen:CA385602231	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)	29110	TBK1	Uncertain significance	-1	RCV002985638;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882338	64882338	NC_000012.11:g.64882338G>A	-
NM_013254.4(TBK1):c.1422C>T (p.Asn474=)	29110	TBK1	Likely benign	-1	RCV002074807;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882348	64882348	64882348	-
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)	29110	TBK1	Likely pathogenic	rs876657405	RCV000185596;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64882360	64882361	NC_000012.11:g.64882360TG[1]	ClinGen:CA10575727,OMIM:604834.0002	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1443-6A>G	29110	TBK1	Likely benign	-1	RCV002160161;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883815	64883815	64883815	-
NM_013254.4(TBK1):c.1443-1G>T	29110	TBK1	Likely pathogenic	-1	RCV002834874;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883820	64883820	NC_000012.11:g.64883820G>T	-
NM_013254.4(TBK1):c.1443A>T (p.Val481=)	29110	TBK1	Uncertain significance	-1	RCV001912995;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883821	64883821	64883821	-
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser)	29110	TBK1	Uncertain significance	-1	RCV002007637;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883844	64883844	64883844	-
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)	29110	TBK1	Uncertain significance	-1	RCV002721131;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883853	64883853	NC_000012.11:g.64883853C>G	-
NM_013254.4(TBK1):c.1476G>A (p.Ala492=)	29110	TBK1	Likely benign	-1	RCV002110595;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883854	64883854	64883854	-
NM_013254.4(TBK1):c.1485A>G (p.Leu495=)	29110	TBK1	Likely benign	rs771930992	RCV000910835\|RCV001480921;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883863	64883863	12:g.64883863A>G	-
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)	29110	TBK1	Pathogenic	-1	RCV003062524;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883874	64883874	NC_000012.11:g.64883874C>G	-
NM_013254.4(TBK1):c.1505A>G (p.His502Arg)	29110	TBK1	Uncertain significance	rs1206925876	RCV000811612;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883883	64883883	12:g.64883883A>G	-
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)	29110	TBK1	Uncertain significance	rs779715292	RCV000492111\|RCV001859502;	N	MONDO:MONDO:0020128,MedGen:C0085084, Orphanet:98503\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883886	64883886	NC_000012.11:g.64883886C>T	ClinGen:CA6669079	C0085084 Motor neuron disease;
NM_013254.4(TBK1):c.1521+20C>T	29110	TBK1	Likely benign	-1	RCV002212348;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64883919	64883919	64883919	-
NM_013254.4(TBK1):c.1522C>A (p.Leu508Ile)	29110	TBK1	Benign	rs144424516	RCV000652984;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889263	64889263	NC_000012.11:g.64889263C>A	ClinGen:CA6669100	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1539A>C (p.Gly513_Thr514=)	29110	TBK1	Likely benign	-1	RCV002720343;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889280	64889280	NC_000012.11:g.64889280A>C	-
NM_013254.4(TBK1):c.1551C>T (p.Thr517=)	29110	TBK1	Likely benign	rs1460627390	RCV000941518\|RCV001501883;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889292	64889292	12:g.64889292C>T	-
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met)	29110	TBK1	Uncertain significance	-1	RCV002006793;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889307	64889307	64889307	-
NM_013254.4(TBK1):c.1566C>T (p.Ile522=)	29110	TBK1	Likely benign	-1	RCV002197621;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889307	64889307	64889307	-
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys)	29110	TBK1	Uncertain significance	-1	RCV002000987;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889321	64889321	64889321	-
NM_013254.4(TBK1):c.1584A>G (p.Pro528=)	29110	TBK1	Likely benign	rs1592375893	RCV000959465\|RCV001422879;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889325	64889325	12:g.64889325A>G	-
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg)	29110	TBK1	Uncertain significance	rs2040916858	RCV001328680;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889329	64889329	64889329	-
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro)	29110	TBK1	Uncertain significance	-1	RCV001928455;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889336	64889336	64889336	-
NM_013254.4(TBK1):c.1602C>T (p.Asp534_Ala535=)	29110	TBK1	Likely benign	-1	RCV002962862;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889343	64889343	NC_000012.11:g.64889343C>T	-
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr)	29110	TBK1	Uncertain significance	rs199905735	RCV000698157;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889344	64889344	12:g.64889344G>A	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)	29110	TBK1	Uncertain significance	-1	RCV002628564;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889353	64889353	NC_000012.11:g.64889353C>T	-
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val)	29110	TBK1	Uncertain significance	rs768023625	RCV001206693\|RCV002561233;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MeSH:D030342,MedGen:C0950123	12	64889360	64889360	12:g.64889360A>T	-
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp)	29110	TBK1	Uncertain significance	rs2040917422	RCV001056684;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889363	64889363	12:g.64889363G>A	-
NM_013254.4(TBK1):c.1643+19C>T	29110	TBK1	Likely benign	-1	RCV002932740;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889403	64889403	NC_000012.11:g.64889403C>T	-
NM_013254.4(TBK1):c.1643+20G>A	29110	TBK1	Likely benign	-1	RCV002895602;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889404	64889404	NC_000012.11:g.64889404G>A	-
NM_013254.4(TBK1):c.1644-10C>T	29110	TBK1	Likely benign	-1	RCV001503659;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889469	64889469	64889469	-
NM_013254.3(TBK1):c.1644-5_1644-2del	29110	TBK1	Conflicting interpretations of pathogenicity	rs755646937	RCV000513177\|RCV000685263;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889472	64889475	12:g.64889472_64889475del	ClinGen:CA6669128	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1644-2A>T	29110	TBK1	Likely pathogenic	-1	RCV002847242;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889477	64889477	NC_000012.11:g.64889477A>T	-
NM_013254.4(TBK1):c.1656A>G (p.Leu552_Gln553=)	29110	TBK1	Likely benign	-1	RCV002949038;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889491	64889491	NC_000012.11:g.64889491A>G	-
NM_013254.4(TBK1):c.1659A>C (p.Gln553His)	29110	TBK1	Likely benign	rs772256797	RCV001061061;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889494	64889494	12:g.64889494A>C	-
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys)	29110	TBK1	Uncertain significance	-1	RCV002008231;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889552	64889552	64889552	-
NM_013254.4(TBK1):c.1718G>A (p.Arg573His)	29110	TBK1	Uncertain significance	rs186475789	RCV000538483;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889553	64889553	12:g.64889553G>A	ClinGen:CA6669134	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1720+2dup	29110	TBK1	Uncertain significance	-1	RCV001999672;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889556	64889557	64889556	-
NM_013254.4(TBK1):c.1720+16T>A	29110	TBK1	Likely benign	-1	RCV002814499;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64889571	64889571	NC_000012.11:g.64889571T>A	-
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly)	29110	TBK1	Uncertain significance	-1	RCV001962547;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890153	64890153	64890153	-
NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly)	29110	TBK1	Uncertain significance	rs2040925135	RCV001253470;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890165	64890165	12:g.64890165A>G	-
NM_013254.4(TBK1):c.1740del (p.Glu580fs)	29110	TBK1	Pathogenic	-1	RCV001386793;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890165	64890165	64890164	-
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg)	29110	TBK1	Uncertain significance	-1	RCV001903674;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890177	64890177	64890177	-
NM_013254.4(TBK1):c.1760+4_1760+7del	29110	TBK1	Uncertain significance	-1	RCV001358670\|RCV002547698;	N	\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890184	64890187	64890183	-
NM_013254.4(TBK1):c.1761-11C>T	29110	TBK1	Benign	-1	RCV001555840\|RCV002072083;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890718	64890718	64890718	-
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs)	29110	TBK1	Pathogenic	-1	RCV001970049;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890737	64890738	64890736	-
NM_013254.4(TBK1):c.1770G>A (p.Leu590=)	29110	TBK1	Likely benign	rs753990284	RCV000969908;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890738	64890738	12:g.64890738G>A	-
NM_013254.4(TBK1):c.1785A>G (p.Thr595_Lys596=)	29110	TBK1	Likely benign	-1	RCV002937632;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890753	64890753	NC_000012.11:g.64890753A>G	-
NM_013254.4(TBK1):c.1792A>G (p.Met598Val)	29110	TBK1	Conflicting interpretations of pathogenicity	rs899858451	RCV000614658\|RCV000687975;	N	MedGen:CN169374\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890760	64890760	12:g.64890760A>G	ClinGen:CA238276382	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1796C>T (p.Thr599Met)	29110	TBK1	Benign	-1	RCV002995931;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890764	64890764	NC_000012.11:g.64890764C>T	-
NM_013254.4(TBK1):c.1797G>A (p.Thr599=)	29110	TBK1	Likely benign	-1	RCV002119505;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890765	64890765	64890765	-
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu)	29110	TBK1	Uncertain significance	-1	RCV001897200;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890771	64890771	64890771	-
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile)	29110	TBK1	Uncertain significance	-1	RCV001909342;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890784	64890784	64890784	-
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)	29110	TBK1	Benign/Likely benign	rs368859659	RCV000952445\|RCV001517243\|RCV002502941\|RCV003117650;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MONDO:MONDO:0054754,MedGen:C4693542,OMIM:617900; MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|	12	64890807	64890807	12:g.64890807G>T	-
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs)	29110	TBK1	Pathogenic	-1	RCV001901252;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890812	64890815	64890811	-
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)	29110	TBK1	Pathogenic	-1	RCV002471876;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890824	64890824	NC_000012.11:g.64890824G>A	-
NM_013254.4(TBK1):c.1862+7A>C	29110	TBK1	Likely benign	-1	RCV001401739;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890837	64890837	64890837	-
NM_013254.4(TBK1):c.1862+13_1862+15del	29110	TBK1	Likely benign	-1	RCV002746081;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890840	64890842	NC_000012.11:g.64890840CTT[1]	-
NM_013254.4(TBK1):c.1865A>G (p.Lys622Arg)	29110	TBK1	Likely benign	-1	RCV001395805;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890945	64890945	64890945	-
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile)	29110	TBK1	Uncertain significance	-1	RCV002032016;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890956	64890956	64890956	-
NM_013254.4(TBK1):c.1887G>C (p.Gln629His)	29110	TBK1	Uncertain significance	rs752047246	RCV001243865;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890967	64890967	12:g.64890967G>C	-
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del)	29110	TBK1	Uncertain significance	-1	RCV001927009;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890968	64890970	64890967	-
NM_013254.4(TBK1):c.1917del (p.Asp639fs)	29110	TBK1	Pathogenic	-1	RCV002820163;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64890997	64890997	NC_000012.11:g.64890997del	-
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)	29110	TBK1	Pathogenic/Likely pathogenic	rs1402092579	RCV000995659\|RCV001093319\|RCV001843556;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	12	64891001	64891003	12:g.64891001_64891003del	-
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)	29110	TBK1	Pathogenic	-1	RCV001388492;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891014	64891014	64891014	-
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn)	29110	TBK1	Uncertain significance	rs1592376939	RCV000801728;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891032	64891032	12:g.64891032C>A	-
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del)	29110	TBK1	Benign	rs141727722	RCV000871138\|RCV001519687;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891033	64891035	12:g.64891033_64891035del	-
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)	29110	TBK1	Uncertain significance	rs144370662	RCV000704095;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891037	64891037	NC_000012.11:g.64891037G>C	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1960-20_1960-19insC	29110	TBK1	Likely benign	-1	RCV003084037;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891408	64891409	NC_000012.11:g.64891408_64891409insC	-
NM_013254.4(TBK1):c.1960-19_1960-18insC	29110	TBK1	Likely benign	-1	RCV002167085;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891409	64891410	64891409	-
NM_013254.4(TBK1):c.1960-10G>T	29110	TBK1	Benign/Likely benign	rs371275822	RCV000553403\|RCV000625326;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|Gene:101448070,MONDO:MONDO:0008328,MedGen:C3888338,OMIM:177700	12	64891418	64891418	12:g.64891418G>T	ClinGen:CA6669233	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1960-7G>T	29110	TBK1	Likely benign	rs768189768	RCV000652986\|RCV000836832;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64891421	64891421	NC_000012.11:g.64891421G>T	ClinGen:CA6669236	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs)	29110	TBK1	Pathogenic	-1	RCV002037825;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891438	64891439	64891437	-
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)	29110	TBK1	Likely pathogenic	-1	RCV002272614;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891446	64891446	64891446	-
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)	29110	TBK1	Uncertain significance	-1	RCV002601441;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891459	64891459	NC_000012.11:g.64891459C>T	-
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly)	29110	TBK1	Uncertain significance	-1	RCV001935900;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891503	64891503	64891503	-
NM_013254.4(TBK1):c.2043C>T (p.Asn681=)	29110	TBK1	Likely benign	-1	RCV002103366;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891511	64891511	64891511	-
NM_013254.4(TBK1):c.2047T>C (p.Leu683=)	29110	TBK1	Likely benign	rs369067312	RCV000878390\|RCV002064913;	N	MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891515	64891515	12:g.64891515T>C	-
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser)	29110	TBK1	Uncertain significance	-1	RCV002034946\|RCV002463045;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64891516	64891516	64891516	-
NM_013254.4(TBK1):c.2066+11C>G	29110	TBK1	Likely benign	-1	RCV002872640;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891545	64891545	NC_000012.11:g.64891545C>G	-
NM_013254.4(TBK1):c.2067-7_2067-3del	29110	TBK1	Uncertain significance	-1	RCV002889688;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891735	64891739	NC_000012.11:g.64891736TTATT[1]	-
NM_013254.4(TBK1):c.2067-7T>A	29110	TBK1	Uncertain significance	-1	RCV001888197;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891741	64891741	64891741	-
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)	29110	TBK1	Uncertain significance	-1	RCV002811724;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891750	64891750	NC_000012.11:g.64891750T>G	-
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)	29110	TBK1	Uncertain significance	-1	RCV003037484;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891756	64891756	NC_000012.11:g.64891756A>G	-
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser)	29110	TBK1	Uncertain significance	-1	RCV001889707;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891759	64891759	64891759	-
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del)	29110	TBK1	Uncertain significance	rs2040947403	RCV001204131;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891761	64891763	12:g.64891761_64891763del	-
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)	29110	TBK1	Pathogenic	rs748112833	RCV000185600;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891767	64891767	12:g.64891767G>A	ClinGen:CA203889,UniProtKB:Q9UHD2#VAR_073948,OMIM:604834.0006	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)	29110	TBK1	Uncertain significance	-1	RCV002647260;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64891806	64891814	NC_000012.11:g.64891806_64891814del	-
NM_013254.4(TBK1):c.2138+2T>C	29110	TBK1	Pathogenic	rs876657406	RCV000185597\|RCV001532209;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872\|MedGen:CN517202	12	64891821	64891821	12:g.64891821T>C	ClinGen:CA10575728,OMIM:604834.0003	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.2139-11G>A	29110	TBK1	Benign/Likely benign	rs41292027	RCV000454770\|RCV001566946\|RCV002056706;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895099	64895099	12:g.64895099G>A	ClinGen:CA6669277	CN169374 not specified;
NM_013254.4(TBK1):c.2139-9G>A	29110	TBK1	Likely benign	-1	RCV003067437;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895101	64895101	NC_000012.11:g.64895101G>A	-
NM_013254.4(TBK1):c.2139-7G>A	29110	TBK1	Conflicting interpretations of pathogenicity	-1	RCV002153421;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895103	64895103	64895103	-
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser)	29110	TBK1	Uncertain significance	-1	RCV001996362;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895110	64895110	64895110	-
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)	29110	TBK1	Uncertain significance	-1	RCV003092382;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895126	64895126	NC_000012.11:g.64895126A>G	-
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val)	29110	TBK1	Uncertain significance	-1	RCV001883096;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895138	64895138	64895138	-
NM_013254.4(TBK1):c.2170C>T (p.Arg724Cys)	29110	TBK1	Likely benign	-1	RCV002213229;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895141	64895141	64895141	-
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser)	29110	TBK1	Uncertain significance	-1	RCV002023406;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895145	64895145	64895145	-
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala)	29110	TBK1	Uncertain significance	rs765585935	RCV000695573;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895148	64895148	12:g.64895148T>C	-	C4225325 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)	29110	TBK1	Uncertain significance	-1	RCV002876104;	N	MONDO:MONDO:0014641,MedGen:C4225325,OMIM:616439, Orphanet:275872	12	64895156	64895156	NC_000012.11:g.64895156C>T	-

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