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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: Dystonia (D004421)
..Starting node ..Familial paroxysmal dystonia (C537180)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Cervical Dystonia, Primary (C566572)
..Dystonia 13, Torsion (C564354)
..Dystonia with Cerebellar Atrophy (C567131)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Familial paroxysmal dystonia (C537180)
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Marsden syndrome (C536024)
..Mohr-Tranebjaerg syndrome (C535808) L: 00113;
..NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..Torsion dystonia with onset in infancy (C536969)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4596

Name:

Familial paroxysmal dystonia

Definition:

Alternative IDs:

OMIM:128200

ParentIDs:

MESH:D004421

TreeNumbers:

C10.597.350.300/C537180 |C23.888.592.350.300/C537180

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C537180
MeSH: C537180
OMIM: 128200;
MSeqDR :
Genes: PRRT2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000271	Abnormality of the face
3	HP:0003829	Incomplete penetrance
4	HP:0002310	Orofacial dyskinesia
5	HP:0007098	Paroxysmal choreoathetosis
6	HP:0002268	Paroxysmal dystonia
7	HP:0001250	Seizures NAMDC: Seizures	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000016.9:g.(?_29824311)_(29827202_?)dup	112476	PRRT2	Uncertain significance	-1	RCV000475685;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824311	29827202		-	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup)	112476	PRRT2	Uncertain significance	757994031	RCV001048090\|RCV002471016;	N	MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824389	29824390	16:g.29824389_29824390insCTCTGAGAT	-
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)	112476	PRRT2	Pathogenic	-1	RCV001004741;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824421	29824422	16:g.29824421_29824422del	-
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)	112476	PRRT2	Conflicting interpretations of pathogenicity	140383655	RCV000118066\|RCV001081520\|RCV002312241\|RCV003224153;	N	MedGen:C3661900\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178	16	29824442	29824442	16:g.29824442G>A	ClinGen:CA231418	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.128A>G (p.Asp43Gly)	112476	PRRT2	Uncertain significance	-1	RCV003058113\|RCV003448476;	N	MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824503	29824503	NC_000016.9:g.29824503A>G	-
NM_145239.3(PRRT2):c.304del (p.Glu102fs)	112476	PRRT2	Likely pathogenic	1567379016	RCV000768058;	N	MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709	16	29824679	29824679	NC_000016.9:g.29824679del	-
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)	112476	PRRT2	Pathogenic	886042013	RCV000378110\|RCV001045357\|RCV002248505;	N	MedGen:C3661900\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824699	29824700	16:g.29824699_29824700del	ClinGen:CA10603263	CN517202 not provided;
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)	112476	PRRT2	Benign	79182085	RCV000118065\|RCV000426092\|RCV000471449\|RCV001080628\|RCV002312240;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MeSH:D030342,MedGen:C0950123	16	29824787	29824787	16:g.29824787C>G	ClinGen:CA289005,UniProtKB:Q7Z6L0#VAR_067010	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)	112476	PRRT2	Conflicting interpretations of pathogenicity	200877676	RCV000688995\|RCV000765285\|RCV002544836;	N	MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709; MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306\|M	16	29824809	29824809	NC_000016.9:g.29824809G>A	-	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)	112476	PRRT2	Uncertain significance	1900084663	RCV001839305\|RCV002034711;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809	16	29824811	29824811	29824811	-
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)	112476	PRRT2	Benign/Likely benign	79568162	RCV000175976\|RCV000456838\|RCV000989591\|RCV001704051\|RCV002326837\|RCV002505095;	N	MedGen:CN169374\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709; M	16	29824814	29824814	16:g.29824814G>C	ClinGen:CA302824,UniProtKB:Q7Z6L0#VAR_067011	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)	112476	PRRT2	Likely pathogenic	-1	RCV003335790;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824832	29824833		-
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)	112476	PRRT2	Pathogenic	387907127	RCV000024174\|RCV000024175;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709	16	29824862	29824862	16:g.29824862C>T	ClinGen:CA129730,OMIM:614386.0009	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.510dup (p.Leu171fs)	112476	PRRT2	not provided	397515576	RCV000055989;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824883	29824884	16:g.29824883_29824884insT	ClinGen:CA345081	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs)	112476	PRRT2	Pathogenic	730882065	RCV000024167\|RCV002513223;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809	16	29824885	29824888	16:g.29824885_29824888del	ClinGen:CA259997,OMIM:614386.0002	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.521_530del (p.Ser174fs)	112476	PRRT2	Likely pathogenic	-1	RCV002289507;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824894	29824903	29824893	-
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)	112476	PRRT2	Pathogenic	1555502708	RCV000625699;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824907	29824910	16:g.29824907_29824910del	ClinGen:CA658798586	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.629dup (p.Ala211fs)	112476	PRRT2	Pathogenic	730882067	RCV000024169\|RCV000188767\|RCV002247391\|RCV002228054;	N	MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709\|MedGen:C3661900\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809	16	29824997	29824998	NC_000016.9:g.29825004dup	ClinGen:CA129725,OMIM:614386.0004	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.629del (p.Pro210fs)	112476	PRRT2	Pathogenic	730882067	RCV000032972\|RCV002247412;	N	MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29824998	29824998	16:g.29824998_29824998del	ClinGen:CA130521,OMIM:614386.0013	C1853995 605751 Seizures, benign familial infantile, 2;
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)	112476	PRRT2	Uncertain significance	779020826	RCV000468258\|RCV000765286;	N	MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709	16	29825010	29825010	NC_000016.9:g.29825010A>G	ClinGen:CA7994559	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	112476	PRRT2	Pathogenic/Likely pathogenic	-1	RCV000055991\|RCV000153783\|RCV000188779\|RCV000193894\|RCV000585818\|RCV000768059\|RCV000791409\|RCV000991298\|RCV001264813\|RCV001563615\|RCV002280097\|RCV002313738\|RCV002273952\|RCV002470742\|RCV003335084;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Hum	16	29825015	29825016	NC_000016.9:g.29825024dup	ClinGen:CA180353,OMIM:614386.0001	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	112476	PRRT2	Pathogenic/Likely pathogenic	587778771	RCV000032970\|RCV000188778\|RCV000820557\|RCV001253175\|RCV002496495\|RCV003242966\|RCV003389315\|RCV003415757;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MedGen:C3661900\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,	16	29825016	29825016	NC_000016.9:g.29825024del	ClinGen:CA261215,OMIM:614386.0011	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)	112476	PRRT2	Benign/Likely benign	200926711	RCV000477236\|RCV001711483\|RCV002314749\|RCV002492868;	N	MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178	16	29825019	29825019	NC_000016.9:g.29825019C>G	ClinGen:CA317029,UniProtKB:Q7Z6L0#VAR_067320	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)	112476	PRRT2	Conflicting interpretations of pathogenicity	76335820	RCV000055990\|RCV000791448\|RCV001332952\|RCV001719806\|RCV002354247;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	29825022	29825022	NC_000016.9:g.29825022C>G	ClinGen:CA317033	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.647C>A (p.Pro216His)	112476	PRRT2	Likely benign	76335820	RCV000188770\|RCV000229187\|RCV001535419\|RCV002362987\|RCV002492869;	N	MedGen:CN169374\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MON	16	29825022	29825022	NC_000016.9:g.29825022C>A	ClinGen:CA317031	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	112476	PRRT2	Pathogenic	387907126	RCV000024172\|RCV000431690\|RCV000817890\|RCV002247392\|RCV002288519;	N	MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709\|MedGen:CN517202\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:60575	16	29825093	29825093	NC_000016.9:g.29825093C>T	ClinGen:CA129727,OMIM:614386.0007	C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial;
NM_145239.3(PRRT2):c.741del (p.Ser248fs)	112476	PRRT2	Pathogenic	-1	RCV003404870;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825113	29825113		-
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	112476	PRRT2	Pathogenic	397514579	RCV000032974\|RCV000032975;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306	16	29825123	29825123	16:g.29825123C>T	ClinGen:CA130523,OMIM:614386.0015	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)	112476	PRRT2	Benign	11150573	RCV000153784\|RCV001510040\|RCV001789224\|RCV001789222\|RCV001789223;	N	MedGen:CN169374\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,	16	29825126	29825126	16:g.29825126T>C	ClinGen:CA180354	CN169374 not specified;
NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys)	112476	PRRT2	Uncertain significance	2142426795	RCV002273272;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825144	29825144	29825144	-
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)	112476	PRRT2	Benign/Likely benign	560303559	RCV000368601\|RCV000463630\|RCV001249313\|RCV001711857\|RCV002401988;	N	MedGen:CN169374\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,	16	29825148	29825148	16:g.29825148G>A	ClinGen:CA7994585	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)	112476	PRRT2	Conflicting interpretations of pathogenicity	387907128	RCV000024176\|RCV002281719;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MedGen:CN169374	16	29825171	29825171	16:g.29825171C>T	ClinGen:CA259999,UniProtKB:Q7Z6L0#VAR_067322,OMIM:614386.0010	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)	112476	PRRT2	Conflicting interpretations of pathogenicity	932713001	RCV000519798\|RCV000644948\|RCV002248752;	N	MedGen:CN517202\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825696	29825696	16:g.29825696C>T	ClinGen:CA280410931	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)	112476	PRRT2	Conflicting interpretations of pathogenicity	1301400509	RCV000515468\|RCV001857289\|RCV002248745;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825733	29825733	16:g.29825733C>T	ClinGen:CA395480710	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.971dup (p.Val325fs)	112476	PRRT2	Pathogenic/Likely pathogenic	796052941	RCV001092090\|RCV001208461\|RCV001644913\|RCV002249678;	N	MedGen:C3661900\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825739	29825740	16:g.29825739_29825740insG	-
NM_145239.3(PRRT2):c.971del (p.Gly324fs)	112476	PRRT2	Pathogenic/Likely pathogenic	796052941	RCV000188780\|RCV000544016\|RCV002247606\|RCV002510567;	N	MedGen:C3661900\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809\|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306	16	29825740	29825740	NC_000016.9:g.29825745del	ClinGen:CA317045	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.972del (p.Val325fs)	112476	PRRT2	Pathogenic	730882066	RCV000024168;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825746	29825746	NC_000016.9:g.29825746del	ClinGen:CA259998,OMIM:614386.0003	C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.976C>A (p.Leu326Ile)	112476	PRRT2	Uncertain significance	1900142681	RCV001770803\|RCV002225140;	N	MedGen:C3661900\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825750	29825750	29825750	-
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=)	112476	PRRT2	Conflicting interpretations of pathogenicity	745970212	RCV000413489\|RCV000807992\|RCV002248643;	N	MedGen:CN169374\|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809\|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825785	29825785	NC_000016.9:g.29825785C>T	ClinGen:CA7994641	CN169374 not specified;
NM_145239.3(PRRT2):c.1012+5G>T	112476	PRRT2	Uncertain significance	2142429667	RCV002052094;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825791	29825791	29825791	-
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg)	112476	PRRT2	Pathogenic	1403034524	RCV002250268;	N	MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809	16	29825957	29825957	29825957	-

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