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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: Blepharospasm (D001764)
Parent Node: Parkinson Disease, Secondary (D010302)
..Starting node ..Pallidopyramidal syndrome (C538104)
Child Nodes:
Sister Nodes:
..Charcot-Marie-Tooth disease with ptosis and parkinsonism (C538079)
..MPTP Poisoning (D020267)
..Pallidopyramidal syndrome (C538104)
..Parkinson Disease, Postencephalitic (D010301)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9403

Name:

Pallidopyramidal syndrome

Definition:

Alternative IDs:

OMIM:260300

ParentIDs:

MESH:D001764|MESH:D010302

TreeNumbers:

C10.228.140.079.862.800/C538104 |C10.228.662.600.700/C538104 |C11.338.250/C538104

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease

Reference:

MedGen: C538104
MeSH: C538104
OMIM: 260300;
MSeqDR :
Genes: FBXO7;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011462	Young adult onset
3	HP:0002071	Abnormality of extrapyramidal motor function
4	HP:0003487	Babinski sign
5	HP:0002067	Bradykinesia
6	HP:0001260	Dysarthria NAMDC: Dysarthria
7	HP:0001332	Dystonia NAMDC: Dystonia
8	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
9	HP:0000338	Hypomimic face
10	HP:0002061	Lower limb spasticity
11	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
12	HP:0002172	Postural instability
13	HP:0002063	Rigidity
14	HP:0012407	Scissor gait
15	HP:0003677	Slow progression
16	HP:0000514	Slow saccadic eye movements
17	HP:0001762	Talipes equinovarus
18	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_012179.4(FBXO7):c.-184C>T	25793	FBXO7	Benign	rs11538371	RCV000274674\|RCV001653654;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32870806	32870806	NC_000022.10:g.32870806C>T	ClinGen:CA10651144	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.-168A>G	25793	FBXO7	Uncertain significance	rs886057417	RCV000329836;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32870822	32870822	NC_000022.10:g.32870822A>G	ClinGen:CA10653379	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.-130C>T	25793	FBXO7	Uncertain significance	rs1399012413	RCV001146687;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32870860	32870860	22:g.32870860C>T	-
NM_012179.4(FBXO7):c.-118T>G	25793	FBXO7	Uncertain significance	rs886057418	RCV000375116;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32870872	32870872	NC_000022.10:g.32870872T>G	ClinGen:CA10654048	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.-97C>T	25793	FBXO7	Uncertain significance	rs531209490	RCV001146688;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32870893	32870893	22:g.32870893C>T	-
NM_012179.4(FBXO7):c.-93G>A	25793	FBXO7	Uncertain significance	rs886057419	RCV000280639;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32870897	32870897	NC_000022.10:g.32870897G>A	ClinGen:CA10645363	CN239372 Parkinson Disease, Recessive;
NC_000022.10:g.(?_32870990)_(32875282_?)dup	25793	FBXO7	Uncertain significance	-1	RCV001939145;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32870990	32875282	-1	-
NM_012179.4(FBXO7):c.32C>T (p.Thr11Ile)	25793	FBXO7	Uncertain significance	rs1233525301	RCV001203007;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32871021	32871021	22:g.32871021C>T	-
NM_012179.4(FBXO7):c.49C>G (p.Pro17Ala)	25793	FBXO7	Uncertain significance	rs886057420	RCV000317019;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32871038	32871038	NC_000022.10:g.32871038C>G	ClinGen:CA10651146	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)	25793	FBXO7	Pathogenic	rs121918305	RCV000005080;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32871054	32871054	NC_000022.10:g.32871054C>T	ClinGen:CA253301,OMIM:605648.0004	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.110C>G (p.Thr37Ser)	25793	FBXO7	Likely benign	-1	RCV002191504;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32871099	32871099	32871099	-
NM_012179.4(FBXO7):c.114G>C (p.Trp38Cys)	25793	FBXO7	Uncertain significance	-1	RCV001974108;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32871103	32871103	32871103	-
NM_012179.4(FBXO7):c.122+9G>A	25793	FBXO7	Conflicting interpretations of pathogenicity	rs192327462	RCV000531417\|RCV000592300;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN169374	22	32871120	32871120	NC_000022.10:g.32871120G>A	ClinGen:CA10201304	CN169374 not specified;
NM_012179.4(FBXO7):c.122+272T>G	25793	FBXO7	Benign	rs8137714	RCV000609047\|RCV001683608;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32871383	32871383	NC_000022.10:g.32871383T>G	ClinGen:CA10201339	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.123-10T>G	25793	FBXO7	Likely benign	-1	RCV001482804;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32874958	32874958	32874958	-
NM_012179.4(FBXO7):c.152del (p.Asn51fs)	25793	FBXO7	Pathogenic	rs1228608709	RCV000578350;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32874996	32874996	22:g.32874996_32874996del	ClinGen:CA639391308	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.155A>G (p.Tyr52Cys)	25793	FBXO7	Likely benign	rs550610502	RCV001147592\|RCV002225799;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32875000	32875000	22:g.32875000A>G	-
NM_012179.4(FBXO7):c.169A>G (p.Thr57Ala)	25793	FBXO7	Uncertain significance	rs760306475	RCV000793300;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875014	32875014	22:g.32875014A>G	-
NM_012179.4(FBXO7):c.213G>A (p.Gly71=)	25793	FBXO7	Likely benign	rs149180516	RCV000874001\|RCV002064750;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875058	32875058	22:g.32875058G>A	-
NM_012179.4(FBXO7):c.260T>C (p.Ile87Thr)	25793	FBXO7	Uncertain significance	rs780055842	RCV000490301;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875105	32875105	NC_000022.10:g.32875105T>C	ClinGen:CA10201378	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.274G>C (p.Asp92His)	25793	FBXO7	Uncertain significance	rs139135860	RCV000286438\|RCV001532462;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32875119	32875119	NC_000022.10:g.32875119G>C	ClinVar:433544,ClinGen:CA10201381	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs143041875	RCV001147593;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875122	32875122	22:g.32875122T>G	-
NM_012179.4(FBXO7):c.284A>T (p.His95Leu)	25793	FBXO7	Uncertain significance	-1	RCV001979226;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875129	32875129	32875129	-
NM_012179.4(FBXO7):c.291A>C (p.Ser97=)	25793	FBXO7	Likely benign	rs369892815	RCV000876050\|RCV001495702;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875136	32875136	22:g.32875136A>C	-
NM_012179.4(FBXO7):c.303T>C (p.Asn101=)	25793	FBXO7	Likely benign	rs373293691	RCV000950510\|RCV002066262;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875148	32875148	22:g.32875148T>C	-
NM_012179.4(FBXO7):c.306G>A (p.Glu102=)	25793	FBXO7	Likely benign	-1	RCV002170880;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875151	32875151	32875151	-
NM_012179.4(FBXO7):c.319G>A (p.Ala107Thr)	25793	FBXO7	Likely benign	rs138222812	RCV000889125\|RCV001422015;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875164	32875164	22:g.32875164G>A	-
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)	25793	FBXO7	Benign	rs11107	RCV000175837\|RCV000616422\|RCV001610488;	N	MedGen:CN169374\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32875190	32875190	22:g.32875190G>A	ClinGen:CA201655,UniProtKB:Q9Y3I1#VAR_021408	CN169374 not specified;
NM_012179.4(FBXO7):c.358C>T (p.Pro120Ser)	25793	FBXO7	Uncertain significance	rs191469599	RCV000393330;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875203	32875203	NC_000022.10:g.32875203C>T	ClinGen:CA10201401	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.364G>A (p.Asp122Asn)	25793	FBXO7	Uncertain significance	-1	RCV001881867;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875209	32875209	32875209	-
NM_012179.4(FBXO7):c.367T>G (p.Ser123Ala)	25793	FBXO7	Uncertain significance	rs2057448381	RCV001147594;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32875212	32875212	22:g.32875212T>G	-
NM_012179.4(FBXO7):c.418-7T>C	25793	FBXO7	Likely benign	-1	RCV001457798;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32879877	32879877	32879877	-
NM_012179.4(FBXO7):c.430C>G (p.Gln144Glu)	25793	FBXO7	Uncertain significance	-1	RCV002010321;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32879896	32879896	32879896	-
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)	25793	FBXO7	Uncertain significance	rs1012166328	RCV001147595;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32879913	32879913	22:g.32879913G>A	-
NM_012179.4(FBXO7):c.464C>A (p.Ala155Glu)	25793	FBXO7	Uncertain significance	rs61730784	RCV001225456;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32879930	32879930	22:g.32879930C>A	-
NM_012179.4(FBXO7):c.465G>A (p.Ala155=)	25793	FBXO7	Likely benign	rs765523844	RCV000925403\|RCV002502817;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32879931	32879931	22:g.32879931G>A	-
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu)	25793	FBXO7	Uncertain significance	-1	RCV001956029;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32879987	32879987	32879987	-
NM_012179.4(FBXO7):c.540A>G (p.Pro180=)	25793	FBXO7	Benign/Likely benign	rs41311141	RCV000546312\|RCV001672610;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32880006	32880006	NC_000022.10:g.32880006A>G	ClinGen:CA10201452	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.571G>C (p.Asp191His)	25793	FBXO7	Uncertain significance	-1	RCV001932011;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32880037	32880037	32880037	-
NM_012179.4(FBXO7):c.593C>G (p.Ala198Gly)	25793	FBXO7	Uncertain significance	rs2057482701	RCV001235832;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32880059	32880059	22:g.32880059C>G	-
NM_012179.4(FBXO7):c.601G>A (p.Val201Met)	25793	FBXO7	Likely benign	rs61730783	RCV000641220\|RCV001546047;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32880067	32880067	22:g.32880067G>A	ClinGen:CA10201463	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.646-10C>T	25793	FBXO7	Likely benign	-1	RCV001452468;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32881045	32881045	32881045	-
NM_012179.4(FBXO7):c.661G>C (p.Ala221Pro)	25793	FBXO7	Uncertain significance	-1	RCV001955758;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32881070	32881070	32881070	-
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu)	25793	FBXO7	Uncertain significance	-1	RCV001733646;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32881083	32881083	32881083	-
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg)	25793	FBXO7	Uncertain significance	-1	RCV002050727;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32881083	32881083	32881083	-
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs61752254	RCV000552061\|RCV000591434\|RCV001310799;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN169374\|MedGen:CN517202	22	32881102	32881102	NC_000022.10:g.32881102C>T	ClinGen:CA10201498	CN169374 not specified;
NM_012179.4(FBXO7):c.697G>A (p.Val233Met)	25793	FBXO7	Uncertain significance	rs1388222868	RCV000802923;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32881106	32881106	22:g.32881106G>A	-
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs1290655316	RCV000778655\|RCV002223936;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32881131	32881132	NC_000022.10:g.32881131CT[2]	-
NM_012179.4(FBXO7):c.745A>G (p.Thr249Ala)	25793	FBXO7	Uncertain significance	rs749742547	RCV000307882;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32881154	32881154	NC_000022.10:g.32881154A>G	ClinGen:CA10201512	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser)	25793	FBXO7	Uncertain significance	-1	RCV001754284\|RCV002032754;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32883747	32883747	32883747	-
NM_012179.4(FBXO7):c.839T>C (p.Leu280Pro)	25793	FBXO7	Uncertain significance	rs776439796	RCV000519913\|RCV001858020;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32883783	32883783	22:g.32883783T>C	ClinGen:CA10201543	CN169374 not specified;
NM_012179.4(FBXO7):c.871+15_871+17del	25793	FBXO7	Likely benign	-1	RCV002212407;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32883827	32883829	32883826	-
NM_012179.4(FBXO7):c.899A>T (p.Asp300Val)	25793	FBXO7	Uncertain significance	-1	RCV002015727;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32887100	32887100	32887100	-
NM_012179.4(FBXO7):c.917G>A (p.Arg306His)	25793	FBXO7	Uncertain significance	-1	RCV002005972;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32887118	32887118	32887118	-
NM_012179.4(FBXO7):c.949C>T (p.Leu317=)	25793	FBXO7	Benign	rs9726	RCV000611094\|RCV001672611;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32887150	32887150	NC_000022.10:g.32887150C>T	ClinGen:CA10201583	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.957T>C (p.Phe319=)	25793	FBXO7	Uncertain significance	rs2057532824	RCV001150918;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32887158	32887158	22:g.32887158T>C	-
NM_012179.4(FBXO7):c.968-14T>G	25793	FBXO7	Benign	rs77327421	RCV001150919\|RCV001655685;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32889078	32889078	22:g.32889078T>G	-
NM_012179.4(FBXO7):c.993G>T (p.Gly331=)	25793	FBXO7	Likely benign	-1	RCV001463195;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889117	32889117	32889117	-
NM_012179.4(FBXO7):c.999C>T (p.Val333=)	25793	FBXO7	Likely benign	rs1191841298	RCV000932560\|RCV001398914;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889123	32889123	22:g.32889123C>T	-
NM_012179.4(FBXO7):c.1054G>A (p.Val352Ile)	25793	FBXO7	Uncertain significance	rs762037477	RCV000400945;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889178	32889178	NC_000022.10:g.32889178G>A	ClinGen:CA10201635	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1070C>T (p.Ala357Val)	25793	FBXO7	Uncertain significance	rs141068487	RCV000808574;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889194	32889194	22:g.32889194C>T	-
NM_012179.4(FBXO7):c.1086C>T (p.Leu362=)	25793	FBXO7	Likely benign	-1	RCV001401961;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889210	32889210	32889210	-
NM_012179.4(FBXO7):c.1089T>C (p.Phe363=)	25793	FBXO7	Likely benign	rs1250777790	RCV000941449\|RCV001471578;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889213	32889213	22:g.32889213T>C	-
NM_012179.4(FBXO7):c.1100A>G (p.Asn367Ser)	25793	FBXO7	Uncertain significance	-1	RCV002034282;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889224	32889224	32889224	-
NM_012179.4(FBXO7):c.1125A>G (p.Leu375=)	25793	FBXO7	Benign/Likely benign	rs147911892	RCV000873830\|RCV002259337;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32889249	32889249	22:g.32889249A>G	ClinGen:CA10201649	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly)	25793	FBXO7	Pathogenic	rs71799110	RCV000005077;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889256	32889256	22:g.32889256C>G	ClinGen:CA253297,UniProtKB:Q9Y3I1#VAR_047938,OMIM:605648.0001	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1144+1G>T	25793	FBXO7	Pathogenic	rs730880272	RCV000005079;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32889269	32889269	22:g.32889269G>T	ClinGen:CA253300,OMIM:605648.0003	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1144+9C>T	25793	FBXO7	Conflicting interpretations of pathogenicity	rs199954341	RCV000641221\|RCV001579859;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32889277	32889277	22:g.32889277C>T	ClinGen:CA10201654	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1145-8C>T	25793	FBXO7	Likely benign	-1	RCV001473873;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32891472	32891472	32891472	-
NM_012179.4(FBXO7):c.1181_1182+1del	25793	FBXO7	Uncertain significance	rs2057568606	RCV001247770;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32891513	32891515	22:g.32891513_32891515del	-
NM_012179.4(FBXO7):c.1182+18T>G	25793	FBXO7	Likely benign	-1	RCV002112065;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32891535	32891535	32891535	-
NM_012179.4(FBXO7):c.1183-15T>G	25793	FBXO7	Likely benign	-1	RCV002081893;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894116	32894116	32894116	-
NM_012179.4(FBXO7):c.1183-4del	25793	FBXO7	Likely benign	rs1399849415	RCV000875498\|RCV001474113;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894127	32894127	22:g.32894127_32894127del	-
NM_012179.4(FBXO7):c.1198C>A (p.His400Asn)	25793	FBXO7	Uncertain significance	rs2057587664	RCV001066527;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894146	32894146	22:g.32894146C>A	-
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs)	25793	FBXO7	Pathogenic/Likely pathogenic	rs749019340	RCV000795355\|RCV002223941;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894152	32894153	22:g.32894152_32894153insAA	-
NM_012179.4(FBXO7):c.1213G>T (p.Glu405Ter)	25793	FBXO7	Pathogenic	-1	RCV001950804;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894161	32894161	32894161	-
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=)	25793	FBXO7	Likely benign	rs201127594	RCV000956347\|RCV001483333;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894169	32894169	22:g.32894169G>A	-
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs749534144	RCV000778656\|RCV001585706;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894209	32894210	NC_000022.10:g.32894211CATTC[3]	-
NM_012179.4(FBXO7):c.1264A>T (p.Ile422Phe)	25793	FBXO7	Uncertain significance	rs1555884880	RCV001246833;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894212	32894212	22:g.32894212A>T	-
NM_012179.4(FBXO7):c.1266T>G (p.Ile422Met)	25793	FBXO7	Uncertain significance	rs2057588908	RCV001144821;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894214	32894214	22:g.32894214T>G	-
NM_012179.4(FBXO7):c.1271_1272delinsAT (p.Phe424Tyr)	25793	FBXO7	Benign	rs1601520476	RCV000874043;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894219	32894220	NC_000022.10:g.32894219_32894220delinsAT	-
NM_012179.4(FBXO7):c.1312C>T (p.Arg438Cys)	25793	FBXO7	Uncertain significance	-1	RCV001540091\|RCV002032519;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894260	32894260	32894260	-
NM_012179.4(FBXO7):c.1332C>G (p.Ile444Met)	25793	FBXO7	Uncertain significance	rs755248108	RCV001144822;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894280	32894280	22:g.32894280C>G	-
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter)	25793	FBXO7	Likely pathogenic	-1	RCV002226951;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894293	32894295	32894293	-
NM_012179.4(FBXO7):c.1385G>T (p.Ser462Ile)	25793	FBXO7	Uncertain significance	rs149552421	RCV000812038\|RCV001766700;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894333	32894333	22:g.32894333G>T	-
NM_012179.4(FBXO7):c.1386T>G (p.Ser462Arg)	25793	FBXO7	Uncertain significance	-1	RCV002045332;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894334	32894334	32894334	-
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu)	25793	FBXO7	Uncertain significance	-1	RCV001960140;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894336	32894336	32894336	-
NM_012179.4(FBXO7):c.1441C>T (p.Arg481Cys)	25793	FBXO7	Likely benign	rs148272407	RCV000945785;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894389	32894389	22:g.32894389C>T	-
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile)	25793	FBXO7	Uncertain significance	rs141286570	RCV000734164\|RCV001049233;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894401	32894401	NC_000022.10:g.32894401G>A	-
NM_012179.4(FBXO7):c.1453G>C (p.Val485Leu)	25793	FBXO7	Uncertain significance	-1	RCV001929146;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894401	32894401	32894401	-
NM_012179.4(FBXO7):c.1490G>C (p.Gly497Ala)	25793	FBXO7	Uncertain significance	-1	RCV002003088;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894438	32894438	32894438	-
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter)	25793	FBXO7	Pathogenic	rs121918304	RCV000005078\|RCV002281696;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894440	32894440	22:g.32894440C>T	ClinGen:CA253298,OMIM:605648.0002	C1850100 260300 Parkinson disease 15;
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser)	25793	FBXO7	Likely benign	-1	RCV001495246\|RCV002225839;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894443	32894443	32894443	-
NM_012179.4(FBXO7):c.1497C>T (p.Gly499=)	25793	FBXO7	Uncertain significance	rs373124830	RCV001236791;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894445	32894445	22:g.32894445C>T	-
NM_012179.4(FBXO7):c.1505A>G (p.Asn502Ser)	25793	FBXO7	Uncertain significance	rs144538200	RCV000263188\|RCV001573646;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894453	32894453	22:g.32894453A>G	ClinGen:CA10201762	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs765344006	RCV001144823;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894454	32894454	22:g.32894454T>C	-
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=)	25793	FBXO7	Uncertain significance	rs758609287	RCV000318405;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894475	32894475	22:g.32894475C>A	ClinGen:CA10201765	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs)	25793	FBXO7	Uncertain significance	rs772175765	RCV000793915\|RCV002466584;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695\|MedGen:CN517202	22	32894482	32894485	22:g.32894482_32894485del	-
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs142471722	RCV000876905\|RCV001144824;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894483	32894483	22:g.32894483G>A	-
NM_012179.4(FBXO7):c.1541del (p.Pro514fs)	25793	FBXO7	Uncertain significance	-1	RCV001975270;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894488	32894488	32894487	-
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)	25793	FBXO7	Conflicting interpretations of pathogenicity	rs34316445	RCV000513395\|RCV000615906;	N	MedGen:CN517202\|MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894494	32894494	22:g.32894494G>C	ClinGen:CA10201774	CN517202 not provided;
NM_012179.4(FBXO7):c.1546G>T (p.Asp516Tyr)	25793	FBXO7	Uncertain significance	rs34316445	RCV001340077;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894494	32894494	32894494	-
NM_012179.4(FBXO7):c.1552C>T (p.Arg518Trp)	25793	FBXO7	Uncertain significance	rs374363283	RCV001146784;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894500	32894500	22:g.32894500C>T	-
NM_012179.4(FBXO7):c.1553G>A (p.Arg518Gln)	25793	FBXO7	Uncertain significance	-1	RCV001931832;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894501	32894501	32894501	-
NM_012179.4(FBXO7):c.*47A>T	25793	FBXO7	Uncertain significance	rs367714958	RCV000354444;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894564	32894564	22:g.32894564A>T	ClinGen:CA10201790	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.*82G>A	25793	FBXO7	Uncertain significance	rs147661976	RCV001146785;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894599	32894599	22:g.32894599G>A	-
NM_012179.4(FBXO7):c.*104T>C	25793	FBXO7	Uncertain significance	rs1601521158	RCV001146786;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894621	32894621	22:g.32894621T>C	-
NM_012179.4(FBXO7):c.*170C>G	25793	FBXO7	Uncertain significance	rs186797068	RCV000259495;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894687	32894687	22:g.32894687C>G	ClinGen:CA10654054	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.*198T>G	25793	FBXO7	Uncertain significance	rs951733600	RCV001146787;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894715	32894715	22:g.32894715T>G	-
NM_012179.4(FBXO7):c.*263A>G	25793	FBXO7	Uncertain significance	rs886057422	RCV000324196;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894780	32894780	22:g.32894780A>G	ClinGen:CA10653385	CN239372 Parkinson Disease, Recessive;
NM_012179.4(FBXO7):c.*282A>T	25793	FBXO7	Uncertain significance	rs886057423	RCV000378716;	N	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300, Orphanet:171695	22	32894799	32894799	22:g.32894799A>T	ClinGen:CA10654055	CN239372 Parkinson Disease, Recessive;

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