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: Parkinson Disease (D010300)
..Starting node ..PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..Paralysis Agitans, Juvenile, Of Hunt (C562469)
..PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..Parkinson Disease 10 (C564653)
..Parkinson Disease 11 (C564345)
..PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..Parkinson Disease 12 (C564486)
..Parkinson Disease 13 (C565204)
..PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..Parkinson Disease 16 (C567726)
..PARKINSON DISEASE 17 (OMIM:614203)
..PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..PARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..PARKINSON DISEASE 21 (OMIM:616361)
..PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..Parkinson disease 3 (C537176)
..Parkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..Parkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..Parkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..Parkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..Parkinson Disease, Familial, Type 1 (C566823)
..PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..Parkinson Disease, Mitochondrial (C564015) L: 00170;
..Parkinsonism, early onset with mental retardation (C537179)
..Parkinsonism-Dystonia, Infantile (C567730)
..Progressive supranuclear palsy atypical (C537240)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9545

Name:

PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

DO:DOID:0060900

ParentIDs:

MESH:D010300

TreeNumbers:

C10.228.140.079.862.500/612953 |C10.228.662.600.400/612953 |C10.574.812/612953

Synonyms:

DYSTONIA-PARKINSONISM, ADULT-ONSET |PARK14

Slim Mappings:

Nervous system disease

Reference:

MedGen: 612953
MeSH: 612953
OMIM: 612953;
MSeqDR :
Genes: PDHA1; PLA2G6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000718	Aggressive behavior
3	HP:0002067	Bradykinesia
4	HP:0002312	Clumsiness
5	HP:0000716	Depressivity NAMDC: Depression
6	HP:0001260	Dysarthria NAMDC: Dysarthria
7	HP:0001332	Dystonia NAMDC: Dystonia
8	HP:0003236	Elevated serum creatine phosphokinase
9	HP:0006892	Frontotemporal cerebral atrophy
10	HP:0002145	Frontotemporal dementia
11	HP:0002283	Global brain atrophy
12	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13	HP:0001300	Parkinsonism NAMDC: Parkinsonism
14	HP:0000751	Personality changes
15	HP:0002172	Postural instability
16	HP:0003678	Rapidly progressive
17	HP:0002063	Rigidity
18	HP:0001257	Spasticity NAMDC: Spasticity
19	HP:0000605	Supranuclear gaze palsy
20	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_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)	8398	PLA2G6	Conflicting interpretations of pathogenicity	140758033	RCV000193114\|RCV000874967\|RCV001078629\|RCV001149228\|RCV002295288;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38508172	38508172	NC_000022.10:g.38508172G>C	ClinGen:CA206378	CN169374 not specified;
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	8398	PLA2G6	Pathogenic/Likely pathogenic	587784353	RCV000006578\|RCV000006579\|RCV000147322\|RCV000255768\|RCV002504755\|RCV002512837\|RCV002512838;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|Human Phenotype Ontology:HP:0012675,MedGen:C4021076\|MedGen:CN517202\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:19	22	38508218	38508219	NC_000022.10:g.38508218_38508219del	ClinGen:CA173267,OMIM:603604.0007	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	8398	PLA2G6	Conflicting interpretations of pathogenicity	121908680	RCV000006572\|RCV000147321\|RCV000323935\|RCV000623021\|RCV000763481\|RCV000778661\|RCV001250474\|RCV001333134\|RCV001813959\|RCV002265549\|RCV003407288;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|Human Phenotype Ontology:HP:0012675,MedGen:C4021076\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0	22	38508219	38508219	22:g.38508219A>C	ClinGen:CA173265,OMIM:603604.0001,OMIM:603604.0006	C0950123 Inborn genetic diseases;
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln)	8398	PLA2G6	Uncertain significance	376144077	RCV001055939\|RCV001571527\|RCV002479340\|RCV002554392;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MedGen:CN517202\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,	22	38508547	38508547	22:g.38508547C>T	-
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)	8398	PLA2G6	Pathogenic/Likely pathogenic	121908687	RCV000006582\|RCV000763482\|RCV001268312\|RCV002512840;	N	MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38508548	38508548	22:g.38508548G>A	ClinGen:CA253798,UniProtKB:O60733#VAR_062531,OMIM:603604.0010	C2751842 612953 Parkinson disease 14;
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser)	8398	PLA2G6	Uncertain significance	563222818	RCV002027134\|RCV002507815;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069	22	38508551	38508551	38508551	-
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln)	8398	PLA2G6	Uncertain significance	368514303	RCV001771162\|RCV001868610\|RCV002489804;	N	MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600	22	38508553	38508553	38508553	-
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	8398	PLA2G6	Pathogenic/Likely pathogenic	121908686	RCV000006581\|RCV000811054\|RCV001251187\|RCV001588801\|RCV002496284\|RCV003155018;	N	MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953	22	38508565	38508565	NC_000022.10:g.38508565C>T	ClinGen:CA253797,UniProtKB:O60733#VAR_062530,OMIM:603604.0009	C2751842 612953 Parkinson disease 14;
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)	8398	PLA2G6	Pathogenic/Likely pathogenic	530348521	RCV000255821\|RCV000853336\|RCV002282096\|RCV002470830\|RCV002494803\|RCV002521855;	N	MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0018307,MedGen:C2931845,OMIM:PS234200, Orphanet:385\|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,	22	38508566	38508566	22:g.38508566G>A	ClinGen:CA10230570	CN517202 not provided;
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)	8398	PLA2G6	Conflicting interpretations of pathogenicity	387906863	RCV000023314\|RCV000779372\|RCV002273936\|RCV002477008\|RCV002513186;	N	MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303\|MedGen:CN517202\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:	22	38511664	38511664	NC_000022.10:g.38511664C>T	ClinGen:CA259782,OMIM:603604.0011
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile)	8398	PLA2G6	Conflicting interpretations of pathogenicity	139579057	RCV002032930\|RCV002265035\|RCV002482409\|RCV002545323;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,	22	38512112	38512112	38512112	-
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe)	8398	PLA2G6	Uncertain significance	2087181118	RCV001236048\|RCV002491762;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069	22	38512175	38512175	22:g.38512175G>A	-
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly)	8398	PLA2G6	Uncertain significance	751508677	RCV001880857\|RCV002490093;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38516823	38516823	38516823	-
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)	8398	PLA2G6	Pathogenic/Likely pathogenic	587784336	RCV000147297\|RCV002505128\|RCV002514835;	N	Human Phenotype Ontology:HP:0012675,MedGen:C4021076\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MONDO:MONDO	22	38516834	38516834	NC_000022.10:g.38516837del	ClinGen:CA173223
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)	8398	PLA2G6	Uncertain significance	376051062	RCV002261645\|RCV002502073;	N	MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069	22	38516859	38516859	38516859	-
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)	8398	PLA2G6	Conflicting interpretations of pathogenicity	143826762	RCV000147295\|RCV000765649\|RCV000811515\|RCV001144627\|RCV001288670;	N	Human Phenotype Ontology:HP:0012675,MedGen:C4021076\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MONDO:MONDO	22	38516893	38516893	NC_000022.10:g.38516893C>T	ClinGen:CA173219	C4021076 Iron accumulation in brain;
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val)	8398	PLA2G6	Uncertain significance	886057503	RCV000267667\|RCV001094768\|RCV003311771\|RCV002487505;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303\|MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:19	22	38519162	38519162	22:g.38519162G>C	ClinGen:CA10654127	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.1427+1G>A	8398	PLA2G6	Pathogenic/Likely pathogenic	750939090	RCV000500147\|RCV000763483\|RCV001783002\|RCV002527311;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|	22	38522377	38522377	22:g.38522377C>T	ClinGen:CA10230870	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp)	8398	PLA2G6	Uncertain significance	76718524	RCV000546754\|RCV002254931\|RCV002490975;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600	22	38522424	38522424	22:g.38522424G>A	ClinGen:CA10230888	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)	8398	PLA2G6	Pathogenic	387906864	RCV000023315;	N	MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38522451	38522451	NC_000022.10:g.38522451G>A	ClinGen:CA259784,OMIM:603604.0012	C2751842 612953 Parkinson disease 14;
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	8398	PLA2G6	Pathogenic	368497893	RCV000266508\|RCV001382039\|RCV002479994\|RCV002519034;	N	MedGen:CN517202\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217	22	38528838	38528838	22:g.38528838C>T	ClinGen:CA10603512	CN517202 not provided;
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)	8398	PLA2G6	Conflicting interpretations of pathogenicity	1403125636	RCV001050248\|RCV001542713\|RCV003317423;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|MedGen:CN169374	22	38528854	38528854	22:g.38528854A>G	-
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)	8398	PLA2G6	Pathogenic	199935023	RCV000023319\|RCV000498427\|RCV001852019\|RCV002513188;	N	MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303	22	38528924	38528924	22:g.38528924C>A	ClinGen:CA259786,OMIM:603604.0016	CN517202 not provided;
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	8398	PLA2G6	Conflicting interpretations of pathogenicity	149653983	RCV001050461\|RCV001147487\|RCV001542714\|RCV001779109\|RCV001585947;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351\|MedGen:CN169374\|MedGen:C3661900	22	38528959	38528959	22:g.38528959G>A	-
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys)	8398	PLA2G6	Uncertain significance	367854265	RCV000997930\|RCV001858869\|RCV002481790;	N	MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217	22	38529014	38529014	22:g.38529014G>A	-
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)	8398	PLA2G6	Conflicting interpretations of pathogenicity	528966598	RCV000224530\|RCV000345705\|RCV000765650\|RCV002057229;	N	MedGen:C3661900\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:19	22	38529017	38529017	22:g.38529017C>T	ClinGen:CA10231094	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His)	8398	PLA2G6	Uncertain significance	372511574	RCV001890439\|RCV002300613\|RCV002482647\|RCV003164287;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217	22	38531035	38531035	38531035	-
NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala)	8398	PLA2G6	Conflicting interpretations of pathogenicity	764286950	RCV001769202\|RCV002295348;	N	MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38535989	38535989	38535989	-
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys)	8398	PLA2G6	Uncertain significance	767260174	RCV001583780\|RCV001866173\|RCV002495942;	N	MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217	22	38539240	38539240	38539240	-
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=)	8398	PLA2G6	Likely benign	368631309	RCV000950904\|RCV001593142\|RCV002502924;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217	22	38539274	38539274	22:g.38539274G>A	-
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)	8398	PLA2G6	Conflicting interpretations of pathogenicity	141825182	RCV000585504\|RCV000765651\|RCV001083799\|RCV001150840;	N	MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600	22	38541454	38541454	22:g.38541454C>T	ClinGen:CA10231275	CN517202 not provided;
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His)	8398	PLA2G6	Uncertain significance	763734863	RCV001358442\|RCV001361193\|RCV002476641\|RCV002547694;	N	MedGen:C3661900\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953,	22	38541475	38541475	38541475	-
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)	8398	PLA2G6	Pathogenic/Likely pathogenic	121908685	RCV000006580\|RCV000535771\|RCV000660638\|RCV001540404\|RCV002512839;	N	MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069;	22	38541632	38541632	22:g.38541632C>T	ClinGen:CA253795,OMIM:603604.0008	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu)	8398	PLA2G6	Pathogenic	774631197	RCV000023316;	N	MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38541654	38541654	22:g.38541654G>T	OMIM:603604.0013	C2751842 612953 Parkinson disease 14;
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)	8398	PLA2G6	Uncertain significance	144910769	RCV001336583\|RCV002486344\|RCV002546786;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|	22	38565318	38565318	38565318	-
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)	8398	PLA2G6	Conflicting interpretations of pathogenicity	147948449	RCV000362034\|RCV000512651\|RCV000518740\|RCV000765652\|RCV001303294;	N	MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:6	22	38565333	38565333	NC_000022.10:g.38565333G>A	ClinGen:CA10231376	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)	8398	PLA2G6	Conflicting interpretations of pathogenicity	150024227	RCV000260236\|RCV000765653\|RCV000762074\|RCV001094773\|RCV002523229;	N	MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|	22	38565343	38565343	NC_000022.10:g.38565343C>T	ClinGen:CA10231378	C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln)	8398	PLA2G6	Uncertain significance	372291638	RCV000147332\|RCV001321701\|RCV001762326\|RCV002505130;	N	Human Phenotype Ontology:HP:0012675,MedGen:C4021076\|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069\|MedGen:CN517202\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:3	22	38565366	38565366	NC_000022.10:g.38565366C>T	ClinGen:CA173286	C4021076 Iron accumulation in brain;
NM_003560.4(PLA2G6):c.29C>A (p.Thr10Asn)	8398	PLA2G6	Uncertain significance	1323819447	RCV000997931\|RCV002290512;	N	MedGen:C3661900\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351	22	38565405	38565405	22:g.38565405G>T	-
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)	8398	PLA2G6	Uncertain significance	143250889	RCV000584924\|RCV000764385\|RCV001144725\|RCV001231034\|RCV002530854;	N	MedGen:CN517202\|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069\|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:32	22	38565418	38565418	22:g.38565418G>A	ClinGen:CA10231391	CN517202 not provided;

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