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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: GM1 gangliosidosis (MONDO:0018149)
Parent Node: syndromic dyslipidemia (MONDO:0015905)
..Starting node ..GM1 gangliosidosis type 1 ()
Child Nodes:
Sister Nodes:
..3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome () L: 00484;
..46,XY disorder of sex development due to testicular 17,20-desmolase deficiency ()
..abetalipoproteinemia ()
..apparent mineralocorticoid excess syndrome ()
..autosomal recessive cerebellar ataxia with late-onset spasticity ()
..autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction ()
..Barth syndrome () L: 00399;
..cerebrotendinous xanthomatosis ()
..CHIME syndrome ()
..congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ()
..Dorfman-Chanarin disease ()
..dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
..Fabry disease ()
..fatty acid hydroxylase-associated neurodegeneration ()
..Gaucher disease perinatal lethal ()
..GM1 gangliosidosis type 1 ()
..GM3 synthase deficiency ()
..hereditary sensory neuropathy-deafness-dementia syndrome ()
..hereditary spastic paraplegia 39 ()
..hyperphosphatasia-intellectual disability syndrome ()
..intellectual disability, autosomal recessive 53 ()
..lipoic acid synthetase deficiency () L: 00479;
..lipoprotein glomerulopathy ()
..long chain 3-hydroxyacyl-CoA dehydrogenase deficiency () L: 00474;
..lysosomal acid lipase deficiency ()
..MEND syndrome ()
..mevalonate kinase deficiency ()
..microcephaly-congenital cataract-psoriasiform dermatitis syndrome ()
..mucosulfatidosis ()
..multiple congenital anomalies-hypotonia-seizures syndrome 1 ()
..multiple congenital anomalies-hypotonia-seizures syndrome 2 ()
..multiple congenital anomalies-hypotonia-seizures syndrome 3 ()
..multiple mitochondrial dysfunctions syndrome 4 () L: 00530;
..nephrotic syndrome 14 ()
..neuronal ceroid lipofuscinosis 8 northern epilepsy variant ()
..pantothenate kinase-associated neurodegeneration ()
..PHARC syndrome ()
..pyruvate dehydrogenase E3 deficiency ()
..rhizomelic chondrodysplasia punctata ()
..sea-blue histiocyte syndrome ()
..Sengers syndrome () L: 00403;
..severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency ()
..sitosterolemia ()
..Sjogren-Larsson syndrome ()
..Smith-Lemli-Opitz syndrome ()
..spasticity-ataxia-gait anomalies syndrome ()
..spinocerebellar ataxia type 38 ()
..syndromic recessive X-linked ichthyosis ()
..X-linked chondrodysplasia punctata ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9260

Name:

GM1 gangliosidosis type 1

Definition:

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.

Alternative IDs:

230500

ParentIDs:

TreeNumbers:

Synonyms:

Beta galactosidase deficiency type 1; Beta-galactosidase-1 deficiency; gangliosidosis generalized GM1 infantile form; gangliosidosis generalized GM1 type 1; gangliosidosis, generalized GM1, infantile form; gangliosidosis, generalized GM1, type 1; gangliosidosis, generalized GM1, type I, with Cardiac

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 230500;
MSeqDR :
Genes: GLB1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001654	Abnormal heart valve morphology
3	HP:0000079	Abnormality of the urinary system
4	HP:0001071	Angiokeratoma corporis diffusum
5	HP:0004568	Beaking of vertebral bodies
6	HP:0007313	Cerebral degeneration
7	HP:0010729	Cherry red spot of the macula	HP:0040282
8	HP:0000280	Coarse facial features
9	HP:0001635	Congestive heart failure
10	HP:0001522	Death in infancy
11	HP:0008166	Decreased beta-galactosidase activity
12	HP:0000457	Depressed nasal ridge
13	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
14	HP:0002007	Frontal bossing
15	HP:0000212	Gingival overgrowth
16	HP:0002240	Hepatomegaly
17	HP:0000316	Hypertelorism
18	HP:0000998	Hypertrichosis
19	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
20	HP:0008479	Hypoplastic vertebral bodies
21	HP:0000023	Inguinal hernia
22	HP:0001249	Intellectual disability
23	HP:0001387	Joint stiffness
24	HP:0002808	Kyphosis
25	HP:0002650	Scoliosis
26	HP:0003510	Severe short stature
27	HP:0000470	Short neck
28	HP:0001744	Splenomegaly
29	HP:0000900	Thickened ribs
30	HP:0001922	Vacuolated lymphocytes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	2720	GLB1	Pathogenic/Likely pathogenic	398123351	RCV000174999\|RCV000794211\|RCV001804833\|RCV001810420;	N	MedGen:C3661900\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009261,MedGen:C0268272	3	33038802	33038802	NC_000003.11:g.33038802C>T	ClinGen:CA201251	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)	2720	GLB1	Pathogenic/Likely pathogenic	371582179	RCV000239412\|RCV000665995\|RCV001192992\|RCV001061617\|RCV001200664\|RCV002518537;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,MedGen:C0268272,OM	3	33055549	33055549	3:g.33055549T>C	ClinGen:CA2299321	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	2720	GLB1	Pathogenic/Likely pathogenic	564428355	RCV000633471\|RCV000666461\|RCV001568844\|RCV003338697;	N	MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354,Orp	3	33059962	33059962	3:g.33059962C>T	ClinGen:CA2299427	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)	2720	GLB1	Pathogenic/Likely pathogenic	780724173	RCV000666573\|RCV001049111;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009660,MedGen:C0086652,OM	3	33059966	33059966	3:g.33059966C>T	-	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)	2720	GLB1	Pathogenic/Likely pathogenic	1697335361	RCV001045376\|RCV002307662;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orp	3	33059988	33059989	3:g.33059988_33059989del	-
NM_000404.4(GLB1):c.1144-2A>G	2720	GLB1	Pathogenic/Likely pathogenic	1553607014	RCV000673337\|RCV001071947\|RCV003387908;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009660,MedGen:C0086652,OM	3	33063149	33063149	3:g.33063149T>C	-	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1142del (p.Lys381fs)	2720	GLB1	Pathogenic/Likely pathogenic	2125478934	RCV001939477\|RCV002307812;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600,Orp	3	33065744	33065744	33065743	-
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	2720	GLB1	Pathogenic/Likely pathogenic	752177002	RCV001650518\|RCV001882746\|RCV003323912;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354	3	33087670	33087670	33087670	-
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	2720	GLB1	Pathogenic/Likely pathogenic	1378338444	RCV001263745\|RCV002537662;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0018149,MedGen:C0085131,Or	3	33093470	33093470	3:g.33093470C>T	-
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)	2720	GLB1	Pathogenic/Likely pathogenic	1559401428	RCV000689254\|RCV000790561\|RCV001584562\|RCV002275106;	N	MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Or	3	33093471	33093472	NC_000003.11:g.33093471_33093472delinsAG	-	C0085131 GM1 gangliosidosis;
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	2720	GLB1	Pathogenic/Likely pathogenic	746766232	RCV000995552\|RCV001331204\|RCV001378118\|RCV002279689\|RCV003226413;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedG	3	33099598	33099598	3:g.33099598G>A	-
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)	2720	GLB1	Pathogenic/Likely pathogenic	756575833	RCV001863251\|RCV002290779;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33099745	33099745	33099745	-
NM_000404.4(GLB1):c.553-2A>T	2720	GLB1	Pathogenic/Likely pathogenic	2125533195	RCV002249057\|RCV003094010;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582	3	33099763	33099763	33099763	-
NM_000404.4(GLB1):c.176G>A (p.Arg59His)	2720	GLB1	Pathogenic/Likely pathogenic	72555392	RCV000000995\|RCV000000994\|RCV000059350\|RCV000078708\|RCV000175600\|RCV000778693\|RCV000850557\|RCV000984179\|RCV000811276\|RCV001813729;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C1968748\|MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MedGen:C3661900\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310,Orpha	3	33114105	33114105	NC_000003.11:g.33114105C>T	ClinGen:CA114666,OMIM:611458.0023
NM_000404.4(GLB1):c.65_75+1del	2720	GLB1	Pathogenic/Likely pathogenic	1382394474	RCV000671128\|RCV001784268\|RCV001861803\|RCV003155274;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,O	3	33138502	33138513	3:g.33138502_33138513del	-	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	2720	GLB1	Pathogenic	794727165	RCV000175003\|RCV000175004\|RCV000703485\|RCV003387787\|RCV003221293;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:CN517202\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009660,MedGen:C0086652	3	33038803	33038803	NC_000003.11:g.33038803G>A	ClinGen:CA201253	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	2720	GLB1	Pathogenic	794729217	RCV000184037\|RCV000627406\|RCV000784901\|RCV000798976\|RCV000987139\|RCV001260322\|RCV003137707;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C3661900\|MedGen:CN169666\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009261	3	33055704	33055705	NC_000003.11:g.33055710dup	ClinGen:CA203855
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	2720	GLB1	Pathogenic	72555391	RCV000000981\|RCV000119099\|RCV000174679\|RCV000586055\|RCV001034863\|RCV002476905;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MedGen:CN517202\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009660,MedGen:C0086652	3	33058235	33058235	NC_000003.11:g.33058235C>T	ClinGen:CA114644,OMIM:611458.0010	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	2720	GLB1	Pathogenic	72555359	RCV000000972\|RCV000667074\|RCV001058421\|RCV001174734\|RCV001781153;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OM	3	33058311	33058311	3:g.33058311G>A	ClinGen:CA114630,OMIM:611458.0002	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1318C>T (p.His440Tyr)	2720	GLB1	Pathogenic	1575414831	RCV001027535;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33059969	33059969	3:g.33059969G>A	-
NM_000404.4(GLB1):c.1188dup (p.Pro397fs)	2720	GLB1	Pathogenic	587779403	RCV000087091;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33063102	33063103	3:g.33063102_33063103insC	ClinGen:CA150629	C0268271 230500 Infantile GM1 gangliosidosis;
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)	2720	GLB1	Pathogenic	-1	RCV002510243;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33065764	33065764	NC_000003.11:g.33065764A>C	-
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	2720	GLB1	Pathogenic	72555372	RCV000000990\|RCV000665526\|RCV000780302\|RCV001223149\|RCV001331201\|RCV001642195\|RCV002225254;	N	MedGen:C1968748\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,M	3	33087629	33087629	3:g.33087629G>A	ClinGen:CA114658,OMIM:611458.0019	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu)	2720	GLB1	Pathogenic	587779404	RCV000087093;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33093283	33093283	3:g.33093283A>G	ClinGen:CA150630	C0268271 230500 Infantile GM1 gangliosidosis;
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	2720	GLB1	Pathogenic	72555366	RCV000000988\|RCV000179306\|RCV000586182\|RCV000633470\|RCV000984269\|RCV000984270\|RCV000984271\|RCV002512629;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C3661900\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310	3	33099692	33099692	NC_000003.11:g.33099692G>A	ClinGen:CA114654,OMIM:611458.0017	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	2720	GLB1	Pathogenic	2125533127	RCV002004514\|RCV002507682\|RCV002246614;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orp	3	33099722	33099723	33099722	-
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)	2720	GLB1	Pathogenic	-1	RCV003238167;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33099752	33099752		-
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	2720	GLB1	Pathogenic	376710410	RCV000256106\|RCV000665871\|RCV000809706\|RCV000984003\|RCV001175291;	N	MedGen:CN517202\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MO	3	33107043	33107043	NC_000003.11:g.33107043A>C	ClinGen:CA10588356
NM_000404.4(GLB1):c.451G>T (p.Asp151Tyr)	2720	GLB1	Pathogenic	375582374	RCV001730468;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33109728	33109728	33109728	OMIM:611458.0029
NM_000404.4(GLB1):c.425_428del (p.Lys142fs)	2720	GLB1	Pathogenic	1699765928	RCV001806351\|RCV001869565;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354	3	33109751	33109754	33109750	-
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)	2720	GLB1	Pathogenic	28934274	RCV000000976\|RCV000428850\|RCV001217770;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:CN517202\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354	3	33110341	33110341	3:g.33110341C>T	ClinGen:CA114636,OMIM:611458.0006,ClinVar:424779	C0268271 230500 Infantile GM1 gangliosidosis;
NM_000404.4(GLB1):c.256_278dup (p.Gln95fs)	2720	GLB1	Pathogenic	587776524	RCV000000983;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33110429	33110430	3:g.33110429_33110430insGGCCAGGGCTCATGAAAGTTCCA	ClinGen:CA114648,OMIM:611458.0012	C0268271 230500 Infantile GM1 gangliosidosis;
NM_000404.4(GLB1):c.266A>T (p.His89Leu)	2720	GLB1	Pathogenic	2125548832	RCV001806352;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33110442	33110442	33110442	-
NM_000404.4(GLB1):c.245+1G>A	2720	GLB1	Pathogenic	778423653	RCV000477865\|RCV000685614\|RCV001175540;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009262,MedG	3	33114035	33114035	3:g.33114035C>T	ClinGen:CA2299763	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)	2720	GLB1	Pathogenic	72555370	RCV000000993\|RCV000760159\|RCV001235447;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedG	3	33114079	33114079	NC_000003.11:g.33114079G>A	ClinGen:CA114664,OMIM:611458.0022
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)	2720	GLB1	Pathogenic	1207569870	RCV001175103\|RCV001384625;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354	3	33114132	33114132	3:g.33114132T>C	-
NM_001039770.3(TMPPE):c.-397dup	2720	GLB1	Pathogenic	2125591475	RCV001806443;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33138498	33138499	33138498	-
NM_000404.4(GLB1):c.75+2dup	2720	GLB1	Pathogenic	587776525	RCV000000985\|RCV000412989\|RCV000781443\|RCV000796145\|RCV001376158\|RCV003338377;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:CN517202\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:M	3	33138500	33138501	NC_000003.11:g.33138501dup	ClinGen:CA114651,OMIM:611458.0014
NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs)	2720	GLB1	Likely pathogenic	2125466937	RCV001794518;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33058214	33058215	33058213	-
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)	2720	GLB1	Likely pathogenic	-1	RCV002307306;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33058300	33058301	33058299	-
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	2720	GLB1	Likely pathogenic	1697334156	RCV001263743;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33059975	33059975	3:g.33059975C>A	-
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	2720	GLB1	Likely pathogenic	-1	RCV002307889;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33065764	33065764	33065764	-
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)	2720	GLB1	Likely pathogenic	-1	RCV003337744;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33065813	33065815		-
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)	2720	GLB1	Likely pathogenic	-1	RCV002310423;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33087656	33087657	33087655	-
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)	2720	GLB1	Likely pathogenic	1575451526	RCV000985131;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33093255	33093255	3:g.33093255C>T	-
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)	2720	GLB1	Likely pathogenic	72555361	RCV000000977\|RCV000673295;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,O	3	33093258	33093258	3:g.33093258T>C	ClinGen:CA114638,OMIM:611458.0007	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	2720	GLB1	Likely pathogenic	1699002261	RCV001263744;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33093287	33093287	3:g.33093287G>T	-
NM_000404.4(GLB1):c.835del (p.Gln279fs)	2720	GLB1	Likely pathogenic	-1	RCV002309663;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33093454	33093454	33093453	-
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	2720	GLB1	Likely pathogenic	1699086565	RCV001263746;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33095000	33095000	3:g.33095000C>A	-
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)	2720	GLB1	Likely pathogenic	-1	RCV002291070;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33099745	33099745	33099745	-
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)	2720	GLB1	Likely pathogenic	-1	RCV002308377;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33107006	33107007	33107005	-
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)	2720	GLB1	Likely pathogenic	-1	RCV002309297;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33107019	33107020	33107018	-
NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)	2720	GLB1	Likely pathogenic	1699766499	RCV001261541;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33109763	33109763	NC_000003.11:g.33109763A>T	-
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)	2720	GLB1	Likely pathogenic	1575471281	RCV001009625;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33109772	33109772	3:g.33109772G>A	-
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)	2720	GLB1	Likely pathogenic	886042079	RCV000984877;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33110323	33110323	3:g.33110323C>G	-
NM_000404.4(GLB1):c.246-17_246-3del	2720	GLB1	Likely pathogenic	2125548864	RCV001806353;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33110465	33110479	33110464	-
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)	2720	GLB1	Likely pathogenic	-1	RCV002309396;	N	MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33114050	33114051	33114049	-
NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)	2720	GLB1	Likely pathogenic	-1	RCV003225699;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33114151	33114151		-
NM_000404.4(GLB1):c.3G>A (p.Met1Ile)	2720	GLB1	Likely pathogenic	-1	RCV002571631;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33138575	33138575	NC_000003.11:g.33138575C>T	-
NM_000404.4(GLB1):c.2010dup (p.Asp671fs)	2720	GLB1	Uncertain significance	1165249729	RCV002273360;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33038560	33038561	33038560	-
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)	2720	GLB1	Uncertain significance	199694629	RCV001580718\|RCV001580720\|RCV001580721\|RCV001580719\|RCV002573266\|RCV002573267;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009261,MedGen:C0268272,O	3	33038787	33038787	33038787	-
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	2720	GLB1	Uncertain significance	72555371	RCV000000998\|RCV000673090;	N	MedGen:C1968748\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,M	3	33038799	33038799	3:g.33038799T>C	ClinGen:CA114671,OMIM:611458.0026	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)	2720	GLB1	Uncertain significance	2125463098	RCV001563859\|RCV001563860\|RCV001563861\|RCV001563862;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257\|MONDO:MONDO:0009660,MedGen:C0086652,OM	3	33055624	33055624	33055624	-
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)	2720	GLB1	Conflicting interpretations of pathogenicity	371397760	RCV000522107\|RCV000765726\|RCV001079383;	N	MedGen:C3661900\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MO	3	33055694	33055694	NC_000003.11:g.33055694G>A	ClinGen:CA2299352
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)	2720	GLB1	Benign	4302331	RCV000153326\|RCV001175292\|RCV001521989\|RCV001527520\|RCV001527521\|RCV001701622\|RCV001701621;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660	3	33055721	33055721	3:g.33055721A>G	ClinGen:CA180082	CN169374 not specified;
NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)	2720	GLB1	Uncertain significance	-1	RCV002510671;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33058259	33058259	NC_000003.11:g.33058259T>C	-
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	2720	GLB1	Conflicting interpretations of pathogenicity	202237232	RCV000669669\|RCV000874342\|RCV001150120\|RCV001150121\|RCV002222593;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009262,MedG	3	33059977	33059977	3:g.33059977T>C	-	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	2720	GLB1	Conflicting interpretations of pathogenicity	180869784	RCV000537911\|RCV000673241\|RCV000681633;	N	MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354; MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650,Orp	3	33060002	33060002	NC_000003.11:g.33060002G>A	ClinVar:208495,ClinGen:CA351471	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.1233+91G>C	2720	GLB1	Likely benign	2125474421	RCV001527523\|RCV001527522;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33062967	33062967	33062967	-
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)	2720	GLB1	Uncertain significance	1697636883	RCV001806444;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33065787	33065787	33065787	-
NM_000404.4(GLB1):c.955+60A>G	2720	GLB1	Benign	12632196	RCV000837695\|RCV001527558\|RCV001527559;	N	MedGen:C3661900\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582	3	33093190	33093190	3:g.33093190T>C	-
NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)	2720	GLB1	Uncertain significance	1699012933	RCV001580714\|RCV001580715\|RCV001580716\|RCV001580717;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257\|MONDO:MONDO:0009660,MedGen:C0086652,OM	3	33093468	33093468	33093468	-
NM_000404.4(GLB1):c.808T>C (p.Tyr270His)	2720	GLB1	not provided	376663785	RCV001803466;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33093481	33093481	33093481	-
NM_000404.4(GLB1):c.792+10G>T	2720	GLB1	Benign/Likely benign	79518579	RCV000078722\|RCV000264041\|RCV000361060\|RCV000675683\|RCV001527560\|RCV001522843;	N	MedGen:CN169374\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MedGen:C3661900\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0018149	3	33094973	33094973	3:g.33094973C>A	ClinGen:CA146082	C0085131 GM1 gangliosidosis;
NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)	2720	GLB1	Uncertain significance	-1	RCV003338190;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33095036	33095036		-
NM_000404.4(GLB1):c.734-8A>G	2720	GLB1	Uncertain significance	398123357	RCV000078720\|RCV000669168\|RCV002508193\|RCV003317082;	N	MedGen:CN517202\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009261,M	3	33095049	33095049	3:g.33095049T>C	ClinGen:CA220723	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.734-80G>A	2720	GLB1	Benign/Likely benign	75639377	RCV001527562\|RCV001527561\|RCV001538541;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C3661900	3	33095121	33095121	33095121	-
NM_000404.4(GLB1):c.734-99G>T	2720	GLB1	Benign	72856120	RCV001527564\|RCV001527563\|RCV001692445;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C3661900	3	33095140	33095140	33095140	-
NM_000404.4(GLB1):c.734-112T>C	2720	GLB1	Benign	80059915	RCV001527566\|RCV001527565\|RCV001615230;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C3661900	3	33095153	33095153	33095153	-
NM_000404.4(GLB1):c.733+78A>G	2720	GLB1	Benign/Likely benign	77452319	RCV001527567\|RCV001527568\|RCV001615231;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MedGen:C3661900	3	33099503	33099503	33099503	-
NM_000404.4(GLB1):c.623G>A (p.Arg208His)	2720	GLB1	Conflicting interpretations of pathogenicity	111840209	RCV000681638\|RCV000876207\|RCV001145887\|RCV001148903\|RCV001354677;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257\|MONDO:MONDO:0009660,MedGen:C0086652,OM	3	33099691	33099691	3:g.33099691C>T	-	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)	2720	GLB1	Uncertain significance	758577863	RCV000850228;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33106962	33106962	3:g.33106962G>C	-
NM_000404.4(GLB1):c.495_497del (p.Leu166del)	2720	GLB1	Conflicting interpretations of pathogenicity	754077128	RCV000844877\|RCV001214281\|RCV001585790;	N	MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500,Orp	3	33107010	33107012	3:g.33107010_33107012del	-
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)	2720	GLB1	Conflicting interpretations of pathogenicity	1553612143	RCV000625810\|RCV002295308;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354	3	33109740	33109740	NC_000003.11:g.33109740G>A	ClinGen:CA351994074	C0268271 230500 Infantile GM1 gangliosidosis;
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)	2720	GLB1	Conflicting interpretations of pathogenicity	572237881	RCV000175606\|RCV000673880\|RCV001201192\|RCV001852152;	N	MedGen:C3661900\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009261,MedGen:C0268272,OMIM:230600, Orphanet:354, Orphanet:79256; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MO	3	33114078	33114078	3:g.33114078C>T	ClinGen:CA201542	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	2720	GLB1	Conflicting interpretations of pathogenicity	72555358	RCV000000971\|RCV000175599\|RCV000672371\|RCV000707313\|RCV001778644;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:CN517202\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,M	3	33114136	33114136	3:g.33114136G>A	ClinGen:CA114628,OMIM:611458.0001	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.93G>A (p.Met31Ile)	2720	GLB1	Uncertain significance	1553612598	RCV000666272;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255; MONDO:MONDO:0009262,MedGen:C0268273,OMIM:230650, Orphanet:79257; MONDO:MONDO:0009261,MedGen:C0268272,O	3	33114188	33114188	3:g.33114188C>T	-	C0268273 230650 Gangliosidosis GM1 type 3;
NM_000404.4(GLB1):c.76-4426C>T	2720	GLB1	Benign	9865342	RCV001527571\|RCV001527570\|RCV001647357;	N	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255\|MedGen:C3661900	3	33118631	33118631	33118631	-
NM_001039770.3(TMPPE):c.-398_-397del	2720	GLB1	Uncertain significance	-1	RCV002510481;	N	MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33138499	33138500	NC_000003.11:g.33138499_33138500del	-
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)	2720	GLB1	Conflicting interpretations of pathogenicity	77988381	RCV000488298\|RCV001089162\|RCV001335294;	N	MedGen:C3661900\|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010, Orphanet:309310, Orphanet:582; MONDO:MONDO:0018149,MedGen:C0085131, Orphanet:354\|MONDO:MONDO:0009260,MedGen:C0268271,OMIM:230500, Orphanet:354, Orphanet:79255	3	33138547	33138547	3:g.33138547G>C	ClinGen:CA2300136	CN517202 not provided;

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