MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

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: Dyskinesias (D020820)
Parent Node: Myokymia (D020385)
..Starting node ..Dyskinesia, Familial, with Facial Myokymia (C564676)
Child Nodes:
Sister Nodes:
..Continuous Muscle Fiber Activity, Hereditary (C563545)
..Dyskinesia, Familial, with Facial Myokymia (C564676)
..Epilepsy, Benign Neonatal, 1, And-Or Myokymia (C567743)
..Episodic Ataxia, Type 1 (C563278)
..Myokymia with neonatal epilepsy (C536099)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3893

Name:

Dyskinesia, Familial, with Facial Myokymia

Definition:

Alternative IDs:

OMIM:606703

ParentIDs:

MESH:D020385|MESH:D020820

TreeNumbers:

C10.228.662.262/C564676 |C10.597.350/C564676 |C10.597.613.650/C564676 |C23.888.592.350/C564676 |C23.888.592.608.650/C564676

Synonyms:

FDFM

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C564676
MeSH: C564676
OMIM: 606703;
MSeqDR :
Genes: ADCY5; SCARB2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003621	Juvenile onset
3	HP:0000739	Anxiety NAMDC: Anxiety
4	HP:0002072	Chorea NAMDC: Chorea
5	HP:0001635	Congestive heart failure	HP:0040283
6	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy	HP:0040283
7	HP:0001260	Dysarthria NAMDC: Dysarthria
8	HP:0100660	Dyskinesia
9	HP:0001332	Dystonia NAMDC: Dystonia
10	HP:0000317	Facial myokymia
11	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)	HP:0040283
12	HP:0002509	Limb hypertonia
13	HP:0001270	Motor delay	HP:0040283
14	HP:0008936	Muscular hypotonia of the trunk	HP:0040283
15	HP:0002322	Resting tremor	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_183357.3(ADCY5):c.3777G>A (p.Pro1259=)	111	ADCY5	Benign/Likely benign	rs112321119	RCV000965650\|RCV002253733\|RCV002253734\|RCV002253732;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123003464	123003464	3:g.123003464C>T	-
NM_183357.3(ADCY5):c.3696G>A (p.Thr1232=)	111	ADCY5	Benign/Likely benign	rs140582739	RCV000872368\|RCV002253642\|RCV002253643\|RCV002253641;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123003545	123003545	3:g.123003545C>T	-
NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met)	111	ADCY5	Uncertain significance	rs1938794666	RCV001198036;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123005576	123005576	3:g.123005576C>T	-
NM_183357.3(ADCY5):c.3532+78A>C	111	ADCY5	Benign	-1	RCV001549076\|RCV001655880;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123008519	123008519	123008519	-
NM_183357.3(ADCY5):c.3532+20G>T	111	ADCY5	Benign/Likely benign	-1	RCV001752002\|RCV002253984\|RCV002253985\|RCV002253986;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651	3	123008577	123008577	123008577	-
NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=)	111	ADCY5	Benign/Likely benign	rs113566464	RCV000873488\|RCV002253651\|RCV002253652\|RCV002253650\|RCV002501326;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647; MedGen:C5562038,OMIM:619651; MONDO:MONDO:0800028,M	3	123008754	123008754	3:g.123008754G>A	-
NM_183357.3(ADCY5):c.3169C>T (p.Arg1057Trp)	111	ADCY5	Uncertain significance	rs764692395	RCV000425304\|RCV002289575;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123010118	123010118	3:g.123010118G>A	ClinGen:CA2576836	CN169374 not specified;
NM_183357.3(ADCY5):c.3086T>A (p.Met1029Lys)	111	ADCY5	Pathogenic	rs864309484	RCV000202493;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123010201	123010201	3:g.123010201A>T	ClinGen:CA347742,OMIM:600293.0006	C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.3074A>C (p.Glu1025Ala)	111	ADCY5	Likely pathogenic	rs1576526285	RCV000987316;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123010213	123010213	3:g.123010213T>G	-
NM_183357.3(ADCY5):c.3074A>G (p.Glu1025Gly)	111	ADCY5	Likely pathogenic	-1	RCV002248962;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123010213	123010213	123010213	-
NM_183357.3(ADCY5):c.3064-18G>A	111	ADCY5	Benign/Likely benign	-1	RCV001512465\|RCV002253825\|RCV002253823\|RCV002253824\|RCV002501767;	N	MedGen:CN517202\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588; MONDO:MONDO:0030625,MedGen:C55620	3	123010241	123010241	123010241	-
NM_183357.3(ADCY5):c.3064-53C>T	111	ADCY5	Benign	-1	RCV001675379\|RCV002253948\|RCV002253949\|RCV002253950;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651	3	123010276	123010276	123010276	-
NM_183357.3(ADCY5):c.3063+54G>A	111	ADCY5	Benign	-1	RCV001549077\|RCV001720315\|RCV002253848\|RCV002253849;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651	3	123014877	123014877	123014877	-
NM_183357.3(ADCY5):c.3063+27G>A	111	ADCY5	Benign	-1	RCV001619666\|RCV002253914\|RCV002253913\|RCV002253912;	N	MedGen:CN517202\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123014904	123014904	123014904	-
NM_183357.3(ADCY5):c.3061C>T (p.Gln1021Ter)	111	ADCY5	Likely pathogenic	-1	RCV002468889;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123014933	123014933	NC_000003.11:g.123014933G>A	-
NM_183357.3(ADCY5):c.3045C>A (p.Asp1015Glu)	111	ADCY5	Pathogenic	-1	RCV001789712;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123014949	123014949	123014949	OMIM:600293.0004
NM_183357.3(ADCY5):c.3015C>A (p.Ala1005=)	111	ADCY5	Benign/Likely benign	rs113525130	RCV000870647\|RCV002253636\|RCV002253635\|RCV002253637;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:C5562038,OMIM:619651	3	123014979	123014979	3:g.123014979G>T	-
NM_183357.3(ADCY5):c.3012C>T (p.His1004=)	111	ADCY5	Benign/Likely benign	rs142086014	RCV000872748\|RCV002253645\|RCV002253644\|RCV002253646;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:C5562038,OMIM:619651	3	123014982	123014982	3:g.123014982G>A	-
NM_183357.3(ADCY5):c.2931-31C>G	111	ADCY5	Benign	-1	RCV001549078\|RCV001647418;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123015094	123015094	123015094	-
NM_183357.3(ADCY5):c.2900+4T>C	111	ADCY5	Benign	-1	RCV001520461\|RCV001529813\|RCV001549079\|RCV002253833\|RCV002253834;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651	3	123018963	123018963	123018963	-
NM_183357.3(ADCY5):c.2724+64T>C	111	ADCY5	Benign	-1	RCV001549080\|RCV001619975;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123021838	123021838	123021838	-
NM_183357.3(ADCY5):c.2724+32C>G	111	ADCY5	Benign	-1	RCV001549244\|RCV001619977;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123021870	123021870	123021870	-
NM_183357.3(ADCY5):c.2481C>A (p.Ile827=)	111	ADCY5	Benign/Likely benign	rs75494273	RCV000864278\|RCV002253624\|RCV002253622\|RCV002253623\|RCV002495242;	N	MedGen:CN517202\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588; MONDO:MONDO:0030625,MedGen:C55620	3	123022992	123022992	3:g.123022992G>T	-
NM_183357.3(ADCY5):c.2443-14T>A	111	ADCY5	Uncertain significance	rs1362359930	RCV001331927;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123023044	123023044	123023044	-
NM_183357.3(ADCY5):c.2278C>T (p.Arg760Ter)	111	ADCY5	Pathogenic	-1	RCV002249230\|RCV003094018;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123036943	123036943	123036943	-
NM_183357.3(ADCY5):c.2257-79T>C	111	ADCY5	Benign	-1	RCV001619356\|RCV002253909\|RCV002253910\|RCV002253908;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123037043	123037043	123037043	-
NM_183357.3(ADCY5):c.2257-83T>G	111	ADCY5	Benign	-1	RCV001549245\|RCV001694097;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123037047	123037047	123037047	-
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)	111	ADCY5	Pathogenic	rs796065306	RCV000030679\|RCV000484892;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123038601	123038601	3:g.123038601C>T	ClinGen:CA342901,UniProtKB:O95622#VAR_068821,OMIM:600293.0001	C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.2111+100T>C	111	ADCY5	Benign	-1	RCV001608427\|RCV002253889\|RCV002253888\|RCV002253887;	N	MedGen:CN517202\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123039496	123039496	123039496	-
NM_183357.3(ADCY5):c.2111+12G>A	111	ADCY5	Benign	-1	RCV001517587\|RCV002253827\|RCV002253828\|RCV002253829;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651	3	123039584	123039584	123039584	-
NM_183357.3(ADCY5):c.2088+1G>T	111	ADCY5	Pathogenic	rs797045002	RCV000190498;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123044168	123044168	NC_000003.11:g.123044168C>A	ClinGen:CA275966	C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.2088+1G>A	111	ADCY5	Pathogenic	rs797045002	RCV000202586\|RCV002298522;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123044168	123044168	NC_000003.11:g.123044168C>T	ClinGen:CA347808,OMIM:600293.0003	C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.2080_2088del (p.Lys694_Met696del)	111	ADCY5	Pathogenic	-1	RCV001548757;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123044169	123044177	123044168	-
NM_183357.3(ADCY5):c.2074G>A (p.Glu692Lys)	111	ADCY5	Uncertain significance	-1	RCV002226838\|RCV003089213;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123044183	123044183	123044183	-
NM_183357.3(ADCY5):c.2072A>T (p.Lys691Met)	111	ADCY5	Likely pathogenic	-1	RCV002248963;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123044185	123044185	123044185	-
NM_183357.3(ADCY5):c.2071A>G (p.Lys691Glu)	111	ADCY5	Likely pathogenic	rs1553726054	RCV000995686;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123044186	123044186	3:g.123044186T>C	-
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)	111	ADCY5	Conflicting interpretations of pathogenicity	rs61734561	RCV000417426\|RCV000987317;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123046510	123046510	3:g.123046510C>G	ClinGen:CA2577336	CN169374 not specified;
NM_183357.3(ADCY5):c.1839C>T (p.Tyr613=)	111	ADCY5	Benign	-1	RCV001685299\|RCV002253957\|RCV002253958\|RCV002253956;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123046573	123046573	123046573	-
NM_183357.3(ADCY5):c.1805+13T>C	111	ADCY5	Benign	-1	RCV001509893\|RCV001528822\|RCV002253822\|RCV002253821\|RCV002253820;	N	MedGen:CN517202\|MedGen:CN169374\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123047478	123047478	123047478	-
NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile)	111	ADCY5	Uncertain significance	rs1941613094	RCV001169881;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123047546	123047546	3:g.123047546C>T	-
NM_183357.3(ADCY5):c.1647-17T>C	111	ADCY5	Benign	rs9855969	RCV000987318\|RCV001509894\|RCV001529759;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202\|MedGen:CN169374	3	123047666	123047666	3:g.123047666A>G	-
NM_183357.3(ADCY5):c.1646+58G>A	111	ADCY5	Benign	-1	RCV001656449\|RCV002253926\|RCV002253927\|RCV002253925;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123049678	123049678	123049678	-
NM_183357.3(ADCY5):c.1646+29C>A	111	ADCY5	Benign	-1	RCV001710977\|RCV002253970\|RCV002253968\|RCV002253969;	N	MedGen:CN517202\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647	3	123049707	123049707	123049707	-
NM_183357.3(ADCY5):c.1579C>A (p.Pro527Thr)	111	ADCY5	Likely pathogenic	rs910314734	RCV000987319;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123049803	123049803	3:g.123049803G>T	-
NM_183357.3(ADCY5):c.1519-75T>G	111	ADCY5	Benign	-1	RCV001549246\|RCV001685508;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123049938	123049938	123049938	-
NM_183357.3(ADCY5):c.1406+70_1406+73dup	111	ADCY5	Benign	-1	RCV001549247\|RCV001638160;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202	3	123066555	123066556	123066555	-
NM_183357.3(ADCY5):c.1378A>T (p.Ile460Phe)	111	ADCY5	Likely pathogenic	rs1576606182	RCV000995687;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123066657	123066657	3:g.123066657T>A	-
NM_183357.3(ADCY5):c.1322C>T (p.Ala441Val)	111	ADCY5	Likely pathogenic	rs1576606282	RCV000995688;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123066713	123066713	3:g.123066713G>A	-
NM_183357.3(ADCY5):c.1285-6C>T	111	ADCY5	Benign/Likely benign	rs77442307	RCV000864587\|RCV002253626\|RCV002253627\|RCV002253625\|RCV002538943;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MeSH:D030342,MedGen:C0950123	3	123066756	123066756	3:g.123066756G>A	-
NM_183357.3(ADCY5):c.1285-8C>A	111	ADCY5	Benign/Likely benign	rs201309229	RCV000955139\|RCV002253716\|RCV002253717\|RCV002253715;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123066758	123066758	3:g.123066758G>T	-
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)	111	ADCY5	Pathogenic	rs864309515	RCV000202572\|RCV000494073\|RCV002273986\|RCV003128395;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738\|	3	123071310	123071310	NC_000003.11:g.123071310C>T	ClinGen:CA347806	C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	111	ADCY5	Conflicting interpretations of pathogenicity	rs864309483	RCV000202545\|RCV000255111\|RCV000622463;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	3	123071311	123071311	3:g.123071311G>A	ClinGen:CA347787,UniProtKB:O95622#VAR_073778,OMIM:600293.0002	C1847627 606703 Dyskinesia, familial, with facial myokymia;
NM_183357.3(ADCY5):c.1235G>T (p.Arg412Leu)	111	ADCY5	Likely pathogenic	-1	RCV002466312;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123071328	123071328	NC_000003.11:g.123071328C>A	-
NM_183357.3(ADCY5):c.963G>A (p.Gln321=)	111	ADCY5	Benign/Likely benign	rs150947472	RCV000871794\|RCV002253639\|RCV002253640\|RCV002253638;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166430	123166430	3:g.123166430C>T	-
NM_183357.3(ADCY5):c.816C>A (p.Ala272=)	111	ADCY5	Benign/Likely benign	rs199689389	RCV000872920\|RCV002253647\|RCV002253649\|RCV002253648;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647	3	123166577	123166577	3:g.123166577G>T	-
NM_183357.3(ADCY5):c.753C>T (p.Leu251=)	111	ADCY5	Benign/Likely benign	-1	RCV001517588\|RCV002253832\|RCV002253831\|RCV002253830;	N	MedGen:CN517202\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166640	123166640	123166640	-
NM_183357.3(ADCY5):c.697T>C (p.Tyr233His)	111	ADCY5	Pathogenic	-1	RCV001789713;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166696	123166696	123166696	OMIM:600293.0005
NM_183357.3(ADCY5):c.649C>T (p.Arg217Cys)	111	ADCY5	Uncertain significance	-1	RCV001809303;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166744	123166744	123166744	-
NM_183357.3(ADCY5):c.632C>T (p.Ala211Val)	111	ADCY5	Uncertain significance	-1	RCV001823450;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166761	123166761	123166761	-
NM_183357.3(ADCY5):c.593_604dup (p.Ala201_Val202insGlyProGlyAla)	111	ADCY5	Uncertain significance	-1	RCV002272777;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166788	123166789	123166788	-
NM_183357.3(ADCY5):c.503G>A (p.Arg168His)	111	ADCY5	Uncertain significance	rs1576704455	RCV001331989;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166890	123166890	123166890	-
NM_183357.3(ADCY5):c.459_460del (p.Arg154fs)	111	ADCY5	Likely pathogenic	rs1576704514	RCV000987320;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166933	123166934	3:g.123166933_123166934del	-
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)	111	ADCY5	Conflicting interpretations of pathogenicity	rs988224463	RCV001333702\|RCV001556364\|RCV002486333\|RCV002546647;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647; MedGen:C5562038,OMIM:619651; MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MeSH:D030342,MedGen:C0950123	3	123166993	123166993	123166993	-
NM_183357.3(ADCY5):c.395C>G (p.Pro132Arg)	111	ADCY5	Uncertain significance	rs1455648014	RCV001333701;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123166998	123166998	123166998	-
NM_183357.3(ADCY5):c.352C>G (p.Gln118Glu)	111	ADCY5	Uncertain significance	-1	RCV002290376;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123167041	123167041	123167041	-
NM_183357.3(ADCY5):c.351G>A (p.Arg117=)	111	ADCY5	Benign/Likely benign	-1	RCV001583365\|RCV002253877\|RCV002253878\|RCV002253876;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MedGen:C5562038,OMIM:619651\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123167042	123167042	123167042	-
NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr)	111	ADCY5	Conflicting interpretations of pathogenicity	rs548282891	RCV000428751\|RCV000765702\|RCV002522550;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MeSH:D030342,MedGen:C0950123	3	123167089	123167089	3:g.123167089C>T	ClinGen:CA2577700	CN169374 not specified;
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu)	111	ADCY5	Conflicting interpretations of pathogenicity	-1	RCV001513381\|RCV002295342\|RCV002506600;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588; MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647; MedGen:C5562038,OMIM:619651	3	123167151	123167151	123167151	-
NM_183357.3(ADCY5):c.225CGA[4] (p.Asp80del)	111	ADCY5	Uncertain significance	rs754577305	RCV001175306;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123167154	123167156	3:g.123167154_123167156del	-
NM_183357.3(ADCY5):c.144C>T (p.Gly48=)	111	ADCY5	Benign	-1	RCV001509895\|RCV001549248\|RCV001528242;	N	MedGen:CN517202\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:CN169374	3	123167249	123167249	123167249	-
NM_183357.3(ADCY5):c.130C>T (p.His44Tyr)	111	ADCY5	Benign/Likely benign	rs189868197	RCV000870961\|RCV002507514;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647; MedGen:C5562038,OMIM:619651; MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123167263	123167263	3:g.123167263G>A	-
NM_183357.3(ADCY5):c.100G>C (p.Glu34Gln)	111	ADCY5	Uncertain significance	rs1559883468	RCV000714656;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123167293	123167293	NC_000003.11:g.123167293C>G	-
NM_183357.3(ADCY5):c.29C>T (p.Pro10Leu)	111	ADCY5	Benign/Likely benign	-1	RCV001521983\|RCV002253838\|RCV002253837\|RCV002253839;	N	MedGen:CN517202\|MONDO:MONDO:0030625,MedGen:C5562036,OMIM:619647\|MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588\|MedGen:C5562038,OMIM:619651	3	123167364	123167364	123167364	-
NM_183357.3(ADCY5):c.-1dup (p.Met1fs)	111	ADCY5	Pathogenic	-1	RCV002249231;	N	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703, Orphanet:324588	3	123167392	123167393	123167392	-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen