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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: Lysosomal Storage Diseases (D016464)
Parent Node: Neuroaxonal Dystrophies (D019150)
..Starting node ..Schindler Disease, Type I (C536631)
Child Nodes:
Sister Nodes:
..Hunter Carpenter Macdonald syndrome (C536071)
..Karak Syndrome (C548029)
..NBIA2B (C565699)
..Neuroaxonal dystrophy renal tubular acidosis (C537386)
..Neurodegeneration Due To Cerebral Folate Transport Deficiency (C567791)
..Neurodegeneration with brain iron accumulation (NBIA) (C538421) 2
..Neuroferritinopathy (C548080)
..Osteopetrosis and infantile neuroaxonal dystrophy (C536055)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Schindler Disease, Type I (C536631)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11015

Name:

Schindler Disease, Type I

Definition:

Alternative IDs:

OMIM:609241|OMIM:609242

ParentIDs:

MESH:D016464|MESH:D019150

TreeNumbers:

C10.228.140.744/C536631 |C16.320.565.595/C536631 |C18.452.648.595/C536631

Synonyms:

Alpha-Galactosidase B Deficiency |Alpha-Galnac Deficiency, Schindler Type |Alpha-N-Acetylgalactosaminidase Deficiency |Alpha-N-acetylgalactosaminidase deficiency adult onset |Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset |Alpha-N-acetylgalactosamini

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C536631
MeSH: C536631
OMIM: 609242;
MSeqDR :
Genes: NAGA; PLAT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003461	Increased urinary O-linked sialopeptides
3	HP:0003581	Adult onset
4	HP:0000478	Abnormality of the eye NAMDC: Ophthalmologic
5	HP:0003355	Aminoaciduria
6	HP:0001071	Angiokeratoma corporis diffusum
7	HP:0040078	Axonal degeneration
8	HP:0002059	Cerebral atrophy
9	HP:0000280	Coarse facial features
10	HP:0100543	Cognitive impairment NAMDC: Cognitive delay
11	HP:0005280	Depressed nasal bridge
12	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
13	HP:0002936	Distal sensory impairment
14	HP:0003409	Distal sensory impairment of all modalities
15	HP:0000958	Dry skin
16	HP:0000962	Hyperkeratosis
17	HP:0001256	Intellectual disability, mild
18	HP:0000214	Lip telangiectasia
19	HP:0001004	Lymphedema
20	HP:0003477	Peripheral axonal neuropathy NAMDC: Neuropathy axonal
21	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
22	HP:0007428	Telangiectasia of the oral mucosa
23	HP:0000179	Thick lower lip vermilion
24	HP:0002321	Vertigo
25	HP:0006812	White mater abnormalities in the posterior periventricular region

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000262.3(NAGA):c.*1930G>A	4668	NAGA	Likely benign	144373253	RCV001148196\|RCV001148197;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42454353	42454353	22:g.42454353C>T	-
NM_000262.3(NAGA):c.*1929C>T	4668	NAGA	Benign	5758566	RCV000288226\|RCV000382486;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454354	42454354	NC_000022.10:g.42454354G>A	ClinGen:CA10653602	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1862C>A	4668	NAGA	Uncertain significance	1926176961	RCV001148198\|RCV001149753;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42454421	42454421	22:g.42454421G>T	-
NM_000262.3(NAGA):c.*1814C>T	4668	NAGA	Benign	80313011	RCV000347831\|RCV000395216;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454469	42454469	NC_000022.10:g.42454469G>A	ClinGen:CA10653603	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1789del	4668	NAGA	Uncertain significance	10713176	RCV000313100\|RCV000349138;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454494	42454494	NC_000022.10:g.42454504del	ClinGen:CA10645637	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.1788_1789del	4668	NAGA	Benign	10713176	RCV000314331\|RCV000399400;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454494	42454495	NC_000022.10:g.42454503_42454504del	ClinGen:CA10653605	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1724C>G	4668	NAGA	Uncertain significance	892278914	RCV001149754\|RCV001149755;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454559	42454559	22:g.42454559G>C	-
NM_000262.3(NAGA):c.*1696C>T	4668	NAGA	Benign	11703233	RCV000260311\|RCV000355090;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42454587	42454587	NC_000022.10:g.42454587G>A	ClinGen:CA10653606	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1555C>T	4668	NAGA	Uncertain significance	866446194	RCV001145432\|RCV001149756;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454728	42454728	22:g.42454728G>A	-
NM_000262.3(NAGA):c.*1501C>G	4668	NAGA	Uncertain significance	750373836	RCV000301495\|RCV000358679;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42454782	42454782	NC_000022.10:g.42454782G>C	ClinGen:CA10653608	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1484A>G	4668	NAGA	Uncertain significance	1433090840	RCV001145433\|RCV001145434;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42454799	42454799	22:g.42454799T>C	-
NM_000262.3(NAGA):c.*1333T>C	4668	NAGA	Benign	1063392	RCV000266251\|RCV000323621;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42454950	42454950	NC_000022.10:g.42454950A>G	ClinGen:CA10653612	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1311T>C	4668	NAGA	Likely benign	185586436	RCV001147376\|RCV001145435;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454972	42454972	22:g.42454972A>G	-
NM_000262.3(NAGA):c.*1299C>T	4668	NAGA	Uncertain significance	886057592	RCV000269614\|RCV000380526;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42454984	42454984	22:g.42454984G>A	ClinGen:CA10651421	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1252T>C	4668	NAGA	Uncertain significance	886057593	RCV000327051\|RCV000383874;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42455031	42455031	22:g.42455031A>G	ClinGen:CA10651422	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1103T>C	4668	NAGA	Benign	117826003	RCV001147377\|RCV001147378;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42455180	42455180	22:g.42455180A>G	-
NM_000262.3(NAGA):c.*1090G>A	4668	NAGA	Uncertain significance	886057594	RCV000291933\|RCV000349008;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42455193	42455193	22:g.42455193C>T	ClinGen:CA10653613	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*1035G>A	4668	NAGA	Benign	62238588	RCV000295309\|RCV000387189;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42455248	42455248	22:g.42455248C>T	ClinGen:CA10654170	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*926C>G	4668	NAGA	Uncertain significance	886057595	RCV000352562\|RCV000397719;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42455357	42455357	22:g.42455357G>C	ClinGen:CA10651424	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*730T>C	4668	NAGA	Uncertain significance	1926239462	RCV001148302\|RCV001148303;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42455553	42455553	22:g.42455553A>G	-
NM_000262.3(NAGA):c.*572G>A	4668	NAGA	Uncertain significance	538578699	RCV001148304\|RCV001149864;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42455711	42455711	22:g.42455711C>T	-
NM_000262.3(NAGA):c.*555C>T	4668	NAGA	Likely benign	141688392	RCV000298846\|RCV000337393;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42455728	42455728	22:g.42455728G>A	ClinGen:CA10654171	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*268G>A	4668	NAGA	Uncertain significance	886057596	RCV000301899\|RCV000397688;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42456015	42456015	22:g.42456015C>T	ClinGen:CA10651425	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*176C>G	4668	NAGA	Uncertain significance	191051580	RCV000266713\|RCV000359073;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42456107	42456107	22:g.42456107G>C	ClinGen:CA10654172	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*170G>A	4668	NAGA	Benign/Likely benign	142863061	RCV001149865\|RCV001145533\|RCV002285449;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MedGen:C3661900	22	42456113	42456113	22:g.42456113C>T	-
NM_000262.3(NAGA):c.*161T>C	4668	NAGA	Benign/Likely benign	150991002	RCV000305453\|RCV000362608\|RCV001597108;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MedGen:C3661900	22	42456122	42456122	22:g.42456122A>G	ClinGen:CA10651426	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*155A>G	4668	NAGA	Uncertain significance	761125179	RCV000270304\|RCV000327782;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42456128	42456128	22:g.42456128T>C	ClinGen:CA10651428	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*143C>T	4668	NAGA	Benign	17002832	RCV000273896\|RCV000384680\|RCV001672616;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900	22	42456140	42456140	22:g.42456140G>A	ClinGen:CA10653614	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.*107G>A	4668	NAGA	Uncertain significance	531819016	RCV001145646\|RCV001145534;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42456176	42456176	22:g.42456176C>T	-
NM_000262.3(NAGA):c.*55C>T	4668	NAGA	Uncertain significance	1004630693	RCV001145647\|RCV001145648;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42456228	42456228	22:g.42456228G>A	-
NM_000262.3(NAGA):c.*12A>C	4668	NAGA	Benign	2229547	RCV000331287\|RCV000388080\|RCV000675775;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900	22	42456271	42456271	22:g.42456271T>G	ClinGen:CA10263566	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)	4668	NAGA	Conflicting interpretations of pathogenicity	201582948	RCV001145650\|RCV001145649;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42456310	42456310	22:g.42456310G>A	-
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)	4668	NAGA	Uncertain significance	778343270	RCV000296129\|RCV000315970;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42457016	42457016	22:g.42457016A>G	ClinGen:CA10263622	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.993G>T (p.Leu331=)	4668	NAGA	Conflicting interpretations of pathogenicity	147853281	RCV000280790\|RCV000372997;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42457036	42457036	22:g.42457036C>A	ClinGen:CA10263625	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)	4668	NAGA	Uncertain significance	121434533	RCV000019796\|RCV000778663;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|	22	42457043	42457043	22:g.42457043C>T	UniProtKB:P17050#VAR_022525,OMIM:104170.0005,ClinGen:CA127853	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)	4668	NAGA	Pathogenic	121434530	RCV000019793;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42457044	42457044	22:g.42457044G>A	ClinGen:CA127849,UniProtKB:P17050#VAR_000498,OMIM:104170.0002	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	4668	NAGA	Conflicting interpretations of pathogenicity	121434529	RCV000019792\|RCV000256069\|RCV000501877\|RCV000660647\|RCV001148412\|RCV001195394\|RCV002251915;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MedGen:C3661900\|MONDO:MONDO:0017779,MedGen:CN276905, Orphanet:3137\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280; MONDO:MONDO:001222	22	42457056	42457056	22:g.42457056C>T	ClinGen:CA127848,UniProtKB:P17050#VAR_000497,OMIM:104170.0001	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.957+4C>G	4668	NAGA	Benign	55715427	RCV000338134\|RCV000396099\|RCV000675776;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900	22	42458827	42458827	22:g.42458827G>C	ClinGen:CA10263648	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys)	4668	NAGA	Uncertain significance	368220690	RCV000285917\|RCV000343240;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42458929	42458929	22:g.42458929G>A	ClinGen:CA10263665	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.760-7C>A	4668	NAGA	Benign	150693978	RCV000308283\|RCV000396104;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42459035	42459035	22:g.42459035G>T	ClinGen:CA10263690	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.759+1_759+8del	4668	NAGA	Likely pathogenic	768761898	RCV001199313\|RCV002480653\|RCV001863139;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281; MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:M	22	42461734	42461741	22:g.42461734_42461741del	-
NM_000262.3(NAGA):c.697G>A (p.Val233Met)	4668	NAGA	Uncertain significance	201294991	RCV001149983\|RCV001149984\|RCV002557227;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MeSH:D030342,MedGen:C0950123	22	42461804	42461804	22:g.42461804C>T	-
NM_000262.3(NAGA):c.638G>A (p.Arg213His)	4668	NAGA	Uncertain significance	781499383	RCV000365198\|RCV000398285;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42461863	42461863	22:g.42461863C>T	ClinGen:CA10263728	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.618G>A (p.Ala206=)	4668	NAGA	Conflicting interpretations of pathogenicity	200770245	RCV001149986\|RCV001149985;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42461883	42461883	22:g.42461883C>T	-
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)	4668	NAGA	Likely pathogenic	779423223	RCV000192506\|RCV002478678;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281; MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137,Orphane	22	42461895	42461895	22:g.42461895G>T	ClinGen:CA090903	C1836544 609241 Schindler disease, type 1;
NM_000262.3(NAGA):c.598-15C>T	4668	NAGA	Benign	2854827	RCV000179279\|RCV000311665\|RCV000368866\|RCV000675777;	N	MedGen:CN169374\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900	22	42461918	42461918	22:g.42461918G>A	ClinGen:CA203210	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.582C>T (p.Gly194=)	4668	NAGA	Uncertain significance	553977653	RCV001143860\|RCV001143861;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42462729	42462729	22:g.42462729G>A	-
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter)	4668	NAGA	Pathogenic	121434531	RCV000019794;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42462734	42462734	NC_000022.10:g.42462734C>A	ClinGen:CA127850,OMIM:104170.0003	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.549C>T (p.Ile183=)	4668	NAGA	Uncertain significance	374984089	RCV000276581\|RCV000334085;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42462762	42462762	22:g.42462762G>A	ClinGen:CA10263775	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)	4668	NAGA	Uncertain significance	200080569	RCV001143863\|RCV001143862\|RCV001508020;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:CN517202	22	42463126	42463126	22:g.42463126G>A	-
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)	4668	NAGA	Uncertain significance	372458856	RCV000817487\|RCV001535647;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280; MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279,Orphane	22	42463132	42463132	22:g.42463132C>T	-
NM_000262.3(NAGA):c.486C>G (p.Pro162=)	4668	NAGA	Uncertain significance	760003063	RCV001143865\|RCV001143864;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42463133	42463133	22:g.42463133G>C	-
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)	4668	NAGA	Conflicting interpretations of pathogenicity	141557187	RCV000963407\|RCV001508021\|RCV001145758;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MedGen:C3661900\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42463137	42463137	22:g.42463137G>A	-
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	4668	NAGA	Conflicting interpretations of pathogenicity	121434532	RCV000019795\|RCV000169668\|RCV001092858\|RCV001145759\|RCV001778658\|RCV002272026;	N	MONDO:MONDO:0019264,MedGen:C5437471, Orphanet:79281\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MedGen:C3661900\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:CN169374\|M	22	42463140	42463140	22:g.42463140G>C	ClinGen:CA127852,UniProtKB:P17050#VAR_000496,OMIM:104170.0004	C1836544 609241 Schindler disease, type 1;
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)	4668	NAGA	Conflicting interpretations of pathogenicity	186173534	RCV000261413\|RCV000353858\|RCV001199905;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:CN169374	22	42463213	42463213	22:g.42463213C>T	ClinGen:CA10263832	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)	4668	NAGA	Uncertain significance	182798205	RCV001145761\|RCV001145760;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42463769	42463769	22:g.42463769G>A	-
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)	4668	NAGA	Conflicting interpretations of pathogenicity	73167107	RCV000319000\|RCV000375961\|RCV000520922\|RCV000764402;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137,Orphan	22	42463813	42463813	22:g.42463813C>T	ClinGen:CA10263889	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.279G>A (p.Pro93=)	4668	NAGA	Benign	133369	RCV000177025\|RCV000282713\|RCV000322543\|RCV000675778;	N	MedGen:CN169374\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900	22	42463814	42463814	22:g.42463814C>T	ClinGen:CA202236	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.110G>A (p.Arg37His)	4668	NAGA	Uncertain significance	199834981	RCV000287258\|RCV000379429\|RCV000733060\|RCV003243099;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	22	42464485	42464485	NC_000022.10:g.42464485C>T	ClinGen:CA10263938	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.25C>T (p.Leu9=)	4668	NAGA	Benign/Likely benign	147528904	RCV000344634\|RCV000406276\|RCV001726136;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MedGen:C3661900	22	42464570	42464570	NC_000022.10:g.42464570G>A	ClinGen:CA10263949	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)	4668	NAGA	Uncertain significance	886057597	RCV000290697\|RCV000348095;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42464576	42464576	NC_000022.10:g.42464576G>A	ClinGen:CA10654173	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.12G>A (p.Lys4=)	4668	NAGA	Uncertain significance	776865602	RCV001150315\|RCV001150314;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42466290	42466290	22:g.42466290C>T	-
NM_000262.3(NAGA):c.-43C>T	4668	NAGA	Uncertain significance	753592199	RCV000312832\|RCV000395272;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42466344	42466344	NC_000022.10:g.42466344G>A	ClinGen:CA10263991	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.-208G>C	4668	NAGA	Benign	133375	RCV000369898\|RCV000399431\|RCV000842782;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MedGen:C3661900	22	42466509	42466509	NC_000022.10:g.42466509C>G	ClinGen:CA10654174	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.-306C>A	4668	NAGA	Uncertain significance	886057598	RCV000297426\|RCV000354883;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42466607	42466607	NC_000022.10:g.42466607G>T	ClinGen:CA10654175	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.-394A>G	4668	NAGA	Likely benign	377708906	RCV001144182\|RCV001144183;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42466695	42466695	22:g.42466695T>C	-
NM_000262.3(NAGA):c.-496G>C	4668	NAGA	Uncertain significance	886057599	RCV000262438\|RCV000319772;	N	MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281\|MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280	22	42466797	42466797	NC_000022.10:g.42466797C>G	ClinGen:CA10653617	C1836522 609242 Kanzaki disease;
NM_000262.3(NAGA):c.-502A>C	4668	NAGA	Uncertain significance	886057600	RCV000266631\|RCV000358272;	N	MONDO:MONDO:0012222,MedGen:C1836522,OMIM:609242, Orphanet:3137, Orphanet:79280\|MONDO:MONDO:0012221,MedGen:C1836544,OMIM:609241, Orphanet:3137, Orphanet:79279, Orphanet:79281	22	42466803	42466803	NC_000022.10:g.42466803T>G	ClinGen:CA10645641	C1836522 609242 Kanzaki disease;

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