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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: Dystonic Disorders (D020821)
..Starting node ..Juvenile-onset dystonia (C537704)
Child Nodes:
Sister Nodes:
..Dystonia 12 (C538001)
..Dystonia 16 (C567430)
..Dystonia 17, Torsion, Autosomal Recessive (C567319)
..Dystonia 18 (C564288) 1
..Dystonia 3, Torsion, X-Linked (C564048)
..Dystonia Musculorum Deformans (D004422) 7
..Dystonia with Ringbinden (C565608)
..DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
..Dystonia, Dopa-responsive (C538007)
..Dystonia, Focal, Task-Specific (C566973)
..Dystonia-Parkinsonism, Adult-Onset (C567844)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Juvenile-onset dystonia (C537704)
..Meige Syndrome (D008538)
..Myoclonic dystonia (C536096)
..Parkinsonism-Dystonia, Infantile (C567730)
..Segawa syndrome, autosomal recessive (C537537)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6577

Name:

Juvenile-onset dystonia

Definition:

Alternative IDs:

OMIM:607371

ParentIDs:

MESH:D020821

TreeNumbers:

C10.228.662.300/C537704

Synonyms:

DJO |Dystonia, juvenile-onset

Slim Mappings:

Nervous system disease

Reference:

MedGen: C537704
MeSH: C537704
OMIM: 607371;
MSeqDR :
Genes: ACTB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002571	Achalasia
3	HP:0000518	Cataract NAMDC: Cataracts
4	HP:0000175	Cleft palate
5	HP:0000204	Cleft upper lip
6	HP:0008796	Externally rotated hips
7	HP:0007325	Generalized dystonia
8	HP:0000348	High forehead
9	HP:0000882	Hypoplastic scapulae
10	HP:0001256	Intellectual disability, mild
11	HP:0002751	Kyphoscoliosis
12	HP:0011342	Mild global developmental delay
13	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
14	HP:0001518	Small for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001101.5(ACTB):c.1107C>T (p.Ile369=)	60	ACTB	Benign/Likely benign	71531321	RCV000642198\|RCV001704765\|RCV002253523\|RCV002491290;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722	7	5567400	5567400	7:g.5567400G>A	ClinGen:CA4146833	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.1077_1078delinsTT (p.Lys359_Gln360delinsAsnTer)	60	ACTB	Likely pathogenic	-1	RCV002472083;	N	MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567429	5567430	NC_000007.13:g.5567429_5567430delinsAA	-
NM_001101.5(ACTB):c.1044G>A (p.Ser348=)	60	ACTB	Benign	13447409	RCV000642203\|RCV001088660\|RCV002253433;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567463	5567463	7:g.5567463C>T	ClinGen:CA4146844	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.1023C>T (p.Ile341=)	60	ACTB	Benign	58704474	RCV000116224\|RCV000527082\|RCV002253209;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567484	5567484	7:g.5567484G>A	ClinGen:CA151574	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.1017G>C (p.Val339=)	60	ACTB	Benign	201416978	RCV000864218\|RCV001731956\|RCV002253621;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567490	5567490	7:g.5567490C>G	-
NM_001101.5(ACTB):c.1014C>T (p.Ser338=)	60	ACTB	Likely benign	1064790	RCV001432793\|RCV002504714;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567493	5567493	5567493	-
NM_001101.5(ACTB):c.985-6C>T	60	ACTB	Benign	182943508	RCV000420276\|RCV000680338\|RCV001080302\|RCV002253439;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567528	5567528	7:g.5567528G>A	ClinGen:CA4146854	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.984+39G>A	60	ACTB	Benign	852424	RCV000680683\|RCV001549054\|RCV001549055;	N	MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5567596	5567596	7:g.5567596C>T	-	CN517202 not provided;
NM_001101.5(ACTB):c.984+15T>C	60	ACTB	Benign/Likely benign	372551192	RCV001641275\|RCV002072982\|RCV002495974\|RCV002253920;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,Me	7	5567620	5567620	5567620	-
NM_001101.5(ACTB):c.951C>T (p.Ile317=)	60	ACTB	Benign	13447408	RCV000614264\|RCV000862866\|RCV002253528;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567668	5567668	7:g.5567668G>A	ClinGen:CA4146891	CN169374 not specified;
NM_001101.5(ACTB):c.942G>A (p.Gln314=)	60	ACTB	Benign	11546939	RCV000116225\|RCV000541380\|RCV002253210;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567677	5567677	7:g.5567677C>T	ClinGen:CA151577	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.903C>T (p.Gly301=)	60	ACTB	Benign/Likely benign	13447407	RCV000529360\|RCV002491022;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567716	5567716	7:g.5567716G>A	ClinGen:CA4146894	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.882C>T (p.Tyr294=)	60	ACTB	Likely benign	774758801	RCV000553222\|RCV002497133;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5567737	5567737	7:g.5567737G>A	ClinGen:CA4146898	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.858C>T (p.Asp286=)	60	ACTB	Likely benign	150105166	RCV000869599\|RCV001546064\|RCV002501296;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:CN517202\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5567761	5567761	7:g.5567761G>A	-
NM_001101.5(ACTB):c.822C>A (p.Ile274=)	60	ACTB	Benign/Likely benign	377390140	RCV000867594\|RCV001683675\|RCV002253633;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567797	5567797	7:g.5567797G>T	-
NM_001101.5(ACTB):c.803-7C>T	60	ACTB	Likely benign	780471227	RCV001477627\|RCV002507497;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5567823	5567823	7:g.5567823G>A	-
NM_001101.5(ACTB):c.762G>C (p.Arg254=)	60	ACTB	Benign/Likely benign	145818896	RCV000417808\|RCV001087879\|RCV001821196\|RCV002253442\|RCV002488947;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:CN169374\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470	7	5567952	5567952	7:g.5567952C>G	ClinGen:CA4146961	CN517202 not provided;
NM_001101.5(ACTB):c.687G>A (p.Thr229=)	60	ACTB	Benign/Likely benign	138499594	RCV000862149\|RCV001644845\|RCV002253618\|RCV002501210;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722	7	5568027	5568027	7:g.5568027C>T	-
NM_001101.5(ACTB):c.645G>A (p.Lys215=)	60	ACTB	Likely benign	145017784	RCV000602964\|RCV001447369\|RCV002491258;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5568069	5568069	7:g.5568069C>T	ClinGen:CA4146977	CN169374 not specified;
NM_001101.5(ACTB):c.642G>A (p.Glu214=)	60	ACTB	Benign/Likely benign	769411154	RCV001681138\|RCV002253952\|RCV002506724\|RCV002073192;	N	MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722	7	5568072	5568072	5568072	-
NM_001101.5(ACTB):c.609G>C (p.Thr203=)	60	ACTB	Benign	148292298	RCV000863290\|RCV001534957\|RCV002253620;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568105	5568105	7:g.5568105C>G	-
NM_001101.5(ACTB):c.598T>G (p.Phe200Val)	60	ACTB	Likely pathogenic	2128241275	RCV001815631;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568116	5568116	5568116	-
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)	60	ACTB	Pathogenic	104894003	RCV000019937\|RCV000503778\|RCV000624662\|RCV000680718\|RCV001533046;	N	MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|	7	5568167	5568167	7:g.5568167G>A	ClinGen:CA341493,UniProtKB:P60709#VAR_030026,OMIM:102630.0001	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.491C>A (p.Pro164His)	60	ACTB	Likely pathogenic	1784814819	RCV001249679;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568223	5568223	7:g.5568223G>T	-
NM_001101.5(ACTB):c.474G>A (p.Gly158=)	60	ACTB	Likely benign	141472083	RCV000418973\|RCV001088667\|RCV002506055;	N	MedGen:CN517202\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568240	5568240	7:g.5568240C>T	ClinGen:CA4146999	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.453C>T (p.Ile151=)	60	ACTB	Benign/Likely benign	150837984	RCV000866420\|RCV001712811\|RCV002253631\|RCV002478968;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722	7	5568261	5568261	7:g.5568261G>A	-
NM_001101.5(ACTB):c.429C>T (p.Tyr143=)	60	ACTB	Likely benign	375215955	RCV001470057\|RCV002495229;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568285	5568285	7:g.5568285G>A	-
NM_001101.5(ACTB):c.426G>T (p.Leu142=)	60	ACTB	Benign/Likely benign	79074016	RCV000445157\|RCV001080382\|RCV001573551\|RCV002253432\|RCV002488913;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:CN169374\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470	7	5568288	5568288	7:g.5568288C>A	ClinGen:CA4147003	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.420A>G (p.Leu140=)	60	ACTB	Benign	13447405	RCV000336952\|RCV000680681\|RCV001080828\|RCV002253376\|RCV002487287;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:	7	5568294	5568294	7:g.5568294T>C	ClinGen:CA4147004	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.364-4A>G	60	ACTB	Likely benign	763065691	RCV002064546\|RCV002507494;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568354	5568354	7:g.5568354T>C	-
NM_001101.5(ACTB):c.364-8C>T	60	ACTB	Likely benign	751843940	RCV001396567\|RCV002478973;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568358	5568358	7:g.5568358G>A	-
NM_001101.5(ACTB):c.364-16T>C	60	ACTB	Benign	852423	RCV000419496\|RCV001516811\|RCV001549056;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568366	5568366	7:g.5568366A>G	ClinGen:CA4147013	CN169374 not specified;
NM_001101.5(ACTB):c.363+16C>T	60	ACTB	Benign/Likely benign	73332405	RCV000515072\|RCV001513372\|RCV002253428;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568776	5568776	7:g.5568776G>A	ClinGen:CA4147099	CN517202 not provided;
NM_001101.5(ACTB):c.363+15A>C	60	ACTB	Likely benign	772907450	RCV000681192\|RCV002060864\|RCV002477517;	N	MedGen:CN517202\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5568777	5568777	7:g.5568777T>G	-	CN517202 not provided;
NM_001101.5(ACTB):c.315G>C (p.Leu105=)	60	ACTB	Benign/Likely benign	139795454	RCV001686830\|RCV002539678\|RCV002496004;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568840	5568840	5568840	-
NM_001101.5(ACTB):c.270C>T (p.Phe90=)	60	ACTB	Likely benign	1446932164	RCV002116253\|RCV002500195;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5568885	5568885	5568885	-
NM_001101.5(ACTB):c.267C>T (p.Thr89=)	60	ACTB	Likely benign	760279394	RCV000868934\|RCV002501284;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5568888	5568888	7:g.5568888G>A	-
NM_001101.5(ACTB):c.257G>A (p.Trp86Ter)	60	ACTB	Uncertain significance	1784831364	RCV001293990;	N	MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568898	5568898	5568898	-
NM_001101.5(ACTB):c.219C>G (p.His73Gln)	60	ACTB	Likely pathogenic	-1	RCV000760255;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568936	5568936	NC_000007.13:g.5568936G>C	-
NM_001101.5(ACTB):c.180C>T (p.Ser60=)	60	ACTB	Conflicting interpretations of pathogenicity	147566416	RCV000799928\|RCV002495063;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568975	5568975	7:g.5568975G>A	-
NM_001101.5(ACTB):c.168C>T (p.Asp56=)	60	ACTB	Benign	13447398	RCV000282092\|RCV000642201\|RCV001086381\|RCV002253375\|RCV002502156;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:	7	5568987	5568987	7:g.5568987G>A	ClinGen:CA4147132	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys)	60	ACTB	Likely pathogenic	2128241408	RCV001560300\|RCV002495893;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5568997	5568997	5568997	-
NM_001101.5(ACTB):c.124-4C>T	60	ACTB	Benign	13447397	RCV000547746\|RCV001703620\|RCV002253429;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5569035	5569035	7:g.5569035G>A	ClinGen:CA4147138	C1855722 243310 Baraitser-Winter syndrome 1;
NM_001101.5(ACTB):c.124-7T>A	60	ACTB	Benign	199651295	RCV000866317\|RCV001511005\|RCV002253630;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5569038	5569038	7:g.5569038A>T	-
NM_001101.5(ACTB):c.96C>T (p.Pro32=)	60	ACTB	Benign/Likely benign	755754152	RCV000592198\|RCV002062095\|RCV002253516;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5569193	5569193	7:g.5569193G>A	ClinGen:CA4147195	CN169374 not specified;
NM_001101.5(ACTB):c.63C>T (p.Phe21=)	60	ACTB	Likely benign	370972197	RCV000615587\|RCV001416542\|RCV002498969;	N	MedGen:CN169374\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5569226	5569226	7:g.5569226G>A	ClinGen:CA4147203	CN169374 not specified;
NM_001101.5(ACTB):c.36C>T (p.Asn12=)	60	ACTB	Likely benign	764325153	RCV000427582\|RCV001089014\|RCV002481334;	N	MedGen:CN517202\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5569253	5569253	7:g.5569253G>A	ClinGen:CA4147207	CN517202 not provided;
NM_001101.5(ACTB):c.24C>G (p.Leu8=)	60	ACTB	Likely benign	151181948	RCV000865059\|RCV002495247;	N	MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107; MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5569265	5569265	7:g.5569265G>C	-
NM_001101.5(ACTB):c.-6-4G>T	60	ACTB	Benign/Likely benign	13447394	RCV000175657\|RCV000680325\|RCV002253272\|RCV002253273;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995	7	5569298	5569298	7:g.5569298C>A	ClinGen:CA201567	CN517202 not provided;
NM_001101.5(ACTB):c.-6-15C>G	60	ACTB	Likely benign	375195937	RCV000429426\|RCV002488950;	N	MedGen:CN517202\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995; MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5569309	5569309	7:g.5569309G>C	ClinGen:CA4147225	CN517202 not provided;
NM_001101.5(ACTB):c.-6-33C>T	60	ACTB	Benign	2908425	RCV000680680\|RCV001549220\|RCV001549057;	N	MedGen:C3661900\|MONDO:MONDO:0009470,MedGen:C1855722,OMIM:243310, Orphanet:2649, Orphanet:2995\|MONDO:MONDO:0011823,MedGen:C1846331,OMIM:607371, Orphanet:79107	7	5569327	5569327	7:g.5569327G>A	-	CN517202 not provided;

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