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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: Gangliosidoses, GM2 (D020143)
..Starting node ..Tay-Sachs Disease, AB Variant (D049290)
Child Nodes:
Sister Nodes:
..Sandhoff Disease (D012497) 3
..Tay-Sachs Disease (D013661) 6
..Tay-Sachs Disease, AB Variant (D049290)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11946

Name:

Tay-Sachs Disease, AB Variant

Definition:

A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

Alternative IDs:

DO:DOID:4795|OMIM:272750

ParentIDs:

MESH:D020143

TreeNumbers:

C10.228.140.163.100.435.825.300.300.750 |C16.320.565.189.435.825.300.300.750 |C16.320.565.398.641.803.350.300.925 |C16.320.565.595.554.825.300.300.920 |C18.452.132.100.435.825.300.300.750 |C18.452.584.687.803.350.300.925 |C18.452.648.189.435.825.300.300.750 |C1

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D049290
MeSH: D049290
OMIM: 272750;
MSeqDR :
Genes: GM2A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007256	Abnormal pyramidal signs
3	HP:0000741	Apathy
4	HP:0002835	Aspiration
5	HP:0000618	Blindness
6	HP:0002059	Cerebral atrophy
7	HP:0002072	Chorea NAMDC: Chorea
8	HP:0000726	Dementia NAMDC: Dementia
9	HP:0001332	Dystonia NAMDC: Dystonia
10	HP:0002267	Exaggerated startle response
11	HP:0001290	Generalized hypotonia
12	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
13	HP:0001263	Global developmental delay NAMDC: Mental retardation
14	HP:0003495	GM2-ganglioside accumulation
15	HP:0010780	Hyperacusis
16	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
17	HP:0001276	Hypertonia
18	HP:0002371	Loss of speech
19	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
20	HP:0008936	Muscular hypotonia of the trunk
21	HP:0002180	Neurodegeneration
22	HP:0003470	Paralysis
23	HP:0002421	Poor head control
24	HP:0002476	Primitive reflex
25	HP:0001250	Seizures NAMDC: Seizures
26	HP:0001285	Spastic tetraparesis
27	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000405.4(GM2A):c.-104T>C	2760	GM2A	Uncertain significance	rs1753617546	RCV001153183;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632674	150632674	5:g.150632674T>C	-
NM_000405.4(GM2A):c.-102A>G	2760	GM2A	Benign	rs2277028	RCV000369671\|RCV001709624;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150632676	150632676	NC_000005.9:g.150632676A>G	ClinGen:CA10623791	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.4(GM2A):c.-83C>G	2760	GM2A	Uncertain significance	rs1753618021	RCV001153184;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632695	150632695	5:g.150632695C>G	-
NM_000405.4(GM2A):c.-44G>A	2760	GM2A	Benign	rs144932594	RCV000270337;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632734	150632734	NC_000005.9:g.150632734G>A	ClinGen:CA3517808	C0268275 272750 Tay-Sachs disease, variant AB;
NC_000005.10:g.(?_151253197)_(151267660_?)del	2760	GM2A	Pathogenic	-1	RCV000634578;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632758	150647221		-	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.-7C>G	2760	GM2A	Uncertain significance	rs371628812	RCV000325440;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632771	150632771	NC_000005.9:g.150632771C>G	ClinGen:CA10623624	C0268275 272750 Tay-Sachs disease, variant AB;
NC_000005.9:g.(?_150632778)_(150727021_?)dup	2760	GM2A	Uncertain significance	-1	RCV003111176;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632778	150727021		-
NC_000005.9:g.(?_150632778)_(150646494_?)dup	2760	GM2A	Uncertain significance	-1	RCV003111177;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632778	150646494		-
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)	2760	GM2A	Likely pathogenic	-1	RCV001782204;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632781	150632781	150632781	-
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)	2760	GM2A	Uncertain significance	-1	RCV003080661;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632782	150632782	NC_000005.9:g.150632782A>G	-
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln)	2760	GM2A	Uncertain significance	rs762676667	RCV001037876;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632788	150632788	5:g.150632788T>A	-
NM_000405.5(GM2A):c.13A>T (p.Met5Leu)	2760	GM2A	Uncertain significance	rs557461469	RCV001153185;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632790	150632790	5:g.150632790A>T	-
NM_000405.5(GM2A):c.13A>C (p.Met5Leu)	2760	GM2A	Uncertain significance	-1	RCV002795231;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632790	150632790	NC_000005.9:g.150632790A>C	-
NM_000405.5(GM2A):c.24C>T (p.Pro8=)	2760	GM2A	Likely benign	-1	RCV002146503;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632801	150632801	150632801	-
NM_000405.5(GM2A):c.33C>T (p.Ile11=)	2760	GM2A	Benign/Likely benign	rs143867953	RCV000897047\|RCV001153186;	N	MedGen:CN517202\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632810	150632810	5:g.150632810C>T	-
NM_000405.5(GM2A):c.36C>T (p.Ala12_Leu13=)	2760	GM2A	Likely benign	-1	RCV002885751;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632813	150632813	NC_000005.9:g.150632813C>T	-
NM_000405.5(GM2A):c.37C>T (p.Leu13=)	2760	GM2A	Uncertain significance	rs1753622145	RCV001153187;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632814	150632814	5:g.150632814C>T	-
NM_000405.5(GM2A):c.39G>A (p.Leu13=)	2760	GM2A	Likely benign	rs374161170	RCV000808931;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632816	150632816	5:g.150632816G>A	-
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)	2760	GM2A	Benign	rs1048719	RCV000250898\|RCV000384587\|RCV000675620;	N	MedGen:CN169374\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150632832	150632832	NC_000005.9:g.150632832G>A	ClinGen:CA3517840,UniProtKB:P17900#VAR_013830	CN517202 not provided;
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn)	2760	GM2A	Likely benign	rs28365994	RCV000271517;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632855	150632855	NC_000005.9:g.150632855A>T	ClinGen:CA3517846	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.81+4A>G	2760	GM2A	Uncertain significance	-1	RCV002962836;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150632862	150632862	NC_000005.9:g.150632862A>G	-
NM_000405.5(GM2A):c.82-15C>T	2760	GM2A	Likely benign	-1	RCV002090456;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639301	150639301	150639301	-
NM_000405.5(GM2A):c.82-8G>C	2760	GM2A	Likely benign	-1	RCV002148575;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639308	150639308	150639308	-
NM_000405.5(GM2A):c.84A>G (p.Pro28_Ser29=)	2760	GM2A	Likely benign	-1	RCV002806315;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639318	150639318	NC_000005.9:g.150639318A>G	-
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)	2760	GM2A	Uncertain significance	-1	RCV001878113;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639319	150639319	150639319	-
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)	2760	GM2A	Uncertain significance	-1	RCV003083162;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639332	150639332	NC_000005.9:g.150639332G>A	-
NM_000405.5(GM2A):c.126G>A (p.Gly42=)	2760	GM2A	Benign/Likely benign	rs113271740	RCV000321739;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639360	150639360	NC_000005.9:g.150639360G>A	ClinGen:CA3517874	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)	2760	GM2A	Uncertain significance	-1	RCV002780801;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639371	150639371	NC_000005.9:g.150639371C>A	-
NM_000405.5(GM2A):c.138G>A (p.Ala46=)	2760	GM2A	Likely benign	rs147511920	RCV002540997;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639372	150639372	5:g.150639372G>A	-
NM_000405.5(GM2A):c.139G>A (p.Val47Met)	2760	GM2A	Uncertain significance	-1	RCV002043241;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639373	150639373	150639373	-
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter)	2760	GM2A	Pathogenic	rs104893897	RCV000000425;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639394	150639394	5:g.150639394G>T	ClinGen:CA114236,OMIM:613109.0005	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)	2760	GM2A	Uncertain significance	rs730882196	RCV000162097\|RCV000235077;	N	MedGen:CN228274\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639398	150639398	NC_000005.9:g.150639398C>T	ClinGen:CA186039,OMIM:613109.0006	CN228274 Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy;
NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)	2760	GM2A	Uncertain significance	-1	RCV003003181;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639406	150639406	NC_000005.9:g.150639406A>T	-
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)	2760	GM2A	Benign	rs153477	RCV000153332\|RCV000376352\|RCV000675621;	N	MedGen:CN169374\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150639409	150639409	5:g.150639409A>G	ClinGen:CA180085,UniProtKB:P17900#VAR_036892	CN517202 not provided;
NM_000405.5(GM2A):c.177C>T (p.Ile59=)	2760	GM2A	Likely benign	-1	RCV002100187;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639411	150639411	150639411	-
NM_000405.5(GM2A):c.178G>A (p.Val60Ile)	2760	GM2A	Uncertain significance	-1	RCV001936195;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639412	150639412	150639412	-
NM_000405.5(GM2A):c.178G>C (p.Val60Leu)	2760	GM2A	Uncertain significance	-1	RCV001981224;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639412	150639412	150639412	-
NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)	2760	GM2A	Uncertain significance	-1	RCV003087830;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639416	150639416	NC_000005.9:g.150639416C>G	-
NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)	2760	GM2A	Uncertain significance	-1	RCV003056089;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639418	150639418	NC_000005.9:g.150639418G>A	-
NM_000405.5(GM2A):c.195C>T (p.Thr65=)	2760	GM2A	Likely benign	-1	RCV002108595;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639429	150639429	150639429	-
NM_000405.5(GM2A):c.203T>C (p.Val68Ala)	2760	GM2A	Uncertain significance	-1	RCV002727266;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639437	150639437	NC_000005.9:g.150639437T>C	-
NM_000405.5(GM2A):c.204_205inv (p.Met69Val)	2760	GM2A	Likely benign	-1	RCV002894244;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639438	150639439	NC_000005.9:g.150639438_150639439inv	-
NM_000405.5(GM2A):c.205A>G (p.Met69Val)	2760	GM2A	Benign	rs153478	RCV000153333\|RCV000286625\|RCV000675622;	N	MedGen:CN169374\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150639439	150639439	5:g.150639439A>G	ClinGen:CA180087,UniProtKB:P17900#VAR_036893	CN517202 not provided;
NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)	2760	GM2A	Uncertain significance	-1	RCV002629568;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639439	150639440	NC_000005.9:g.150639439_150639440delinsGC	-
NM_000405.5(GM2A):c.207G>A (p.Met69Ile)	2760	GM2A	Uncertain significance	-1	RCV001934574;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639441	150639441	150639441	-
NM_000405.5(GM2A):c.209del (p.Gly70fs)	2760	GM2A	Pathogenic	-1	RCV002273276;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639441	150639441	150639440	-
NM_000405.5(GM2A):c.243+10G>A	2760	GM2A	Likely benign	-1	RCV002885204;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150639487	150639487	NC_000005.9:g.150639487G>A	-
NM_000405.5(GM2A):c.244-6dup	2760	GM2A	Benign	-1	RCV002638025;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646277	150646278	NC_000005.9:g.150646286dup	-
NM_000405.5(GM2A):c.244-15A>T	2760	GM2A	Likely benign	-1	RCV002646744;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646277	150646277	NC_000005.9:g.150646277A>T	-
NM_000405.5(GM2A):c.244-6del	2760	GM2A	Benign	-1	RCV002634490;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646278	150646278	NC_000005.9:g.150646286del	-
NM_000405.5(GM2A):c.244-13T>G	2760	GM2A	Likely benign	-1	RCV002084431;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646279	150646279	150646279	-
NM_000405.5(GM2A):c.244-6T>C	2760	GM2A	Likely benign	-1	RCV002173619;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646286	150646286	150646286	-
NM_000405.5(GM2A):c.244-2A>T	2760	GM2A	Likely pathogenic	rs1057519022	RCV000416363;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646290	150646290	NC_000005.9:g.150646290A>T	ClinGen:CA16044025	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.244G>C (p.Val82Leu)	2760	GM2A	Uncertain significance	-1	RCV001914118;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646292	150646292	150646292	-
NM_000405.5(GM2A):c.254T>G (p.Val85Gly)	2760	GM2A	Uncertain significance	rs143999954	RCV000341668\|RCV002523514;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MeSH:D030342,MedGen:C0950123	5	150646302	150646302	NC_000005.9:g.150646302T>G	ClinGen:CA3517917	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.262_264del (p.Lys88del)	2760	GM2A	Likely pathogenic	rs1753894328	RCV001253492;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646308	150646310	5:g.150646308_150646310del	OMIM:613109.0003
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)	2760	GM2A	Uncertain significance	rs1753894633	RCV001344003;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646324	150646325	150646324	-
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg)	2760	GM2A	Uncertain significance	-1	RCV002047070;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646326	150646327	150646326	-
NM_000405.5(GM2A):c.308T>C (p.Ile103Thr)	2760	GM2A	Uncertain significance	rs1443880021	RCV001331205;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646356	150646356	150646356	-
NM_000405.5(GM2A):c.315C>T (p.Ser105_Cys106=)	2760	GM2A	Likely benign	-1	RCV003003067;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646363	150646363	NC_000005.9:g.150646363C>T	-
NM_000405.5(GM2A):c.333del (p.Cys112fs)	2760	GM2A	Pathogenic	rs587779405	RCV000087094\|RCV002247494;	N	MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646381	150646381	5:g.150646381_150646381del	ClinGen:CA267586	C0039373 272800 Tay-Sachs disease;
NM_000405.5(GM2A):c.342G>C (p.Val114_Leu115=)	2760	GM2A	Likely benign	-1	RCV003072913;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646390	150646390	NC_000005.9:g.150646390G>C	-
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys)	2760	GM2A	Uncertain significance	rs1561620130	RCV000761512;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646427	150646427	NC_000005.9:g.150646427G>A	-
NM_000405.5(GM2A):c.381G>A (p.Glu127_Pro128=)	2760	GM2A	Likely benign	-1	RCV003091707;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646429	150646429	NC_000005.9:g.150646429G>A	-
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys)	2760	GM2A	Uncertain significance	-1	RCV001947306;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646436	150646436	150646436	-
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)	2760	GM2A	Uncertain significance	-1	RCV002588010\|RCV002598940;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646443	150646443	NC_000005.9:g.150646443A>T	-
NM_000405.5(GM2A):c.410del (p.His137fs)	2760	GM2A	Pathogenic	-1	RCV000000424;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646458	150646458	NC_000005.9:g.150646458del	OMIM:613109.0004	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)	2760	GM2A	Pathogenic	rs137852797	RCV000000421;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646460	150646460	5:g.150646460T>C	ClinGen:CA114233,UniProtKB:P17900#VAR_006947,OMIM:613109.0001	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.427-13G>A	2760	GM2A	Uncertain significance	rs1753905990	RCV001331206;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646844	150646844	150646844	-
NM_000405.5(GM2A):c.427-7C>T	2760	GM2A	Likely benign	-1	RCV003060925;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646850	150646850	NC_000005.9:g.150646850C>T	-
NM_000405.5(GM2A):c.427-4G>A	2760	GM2A	Likely benign	rs761411485	RCV002540192;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646853	150646853	5:g.150646853G>A	-
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)	2760	GM2A	Uncertain significance	-1	RCV002746621;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646858	150646858	NC_000005.9:g.150646858G>A	-
NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)	2760	GM2A	Uncertain significance	-1	RCV002908053;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646875	150646875	NC_000005.9:g.150646875A>C	-
NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)	2760	GM2A	Uncertain significance	-1	RCV003045137;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646879	150646879	NC_000005.9:g.150646879G>A	-
NM_000405.5(GM2A):c.450C>T (p.Ser150=)	2760	GM2A	Likely benign	-1	RCV002090145;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646880	150646880	150646880	-
NM_000405.5(GM2A):c.458T>C (p.Val153Ala)	2760	GM2A	Benign	rs61740602	RCV000372708\|RCV000675624;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150646888	150646888	NC_000005.9:g.150646888T>C	ClinGen:CA3517976	CN517202 not provided;
NM_000405.5(GM2A):c.467A>T (p.Asp156Val)	2760	GM2A	Uncertain significance	-1	RCV003024451;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646897	150646897	NC_000005.9:g.150646897A>T	-
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter)	2760	GM2A	Likely pathogenic	rs1057519021	RCV000416329;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646902	150646902	NC_000005.9:g.150646902G>T	ClinGen:CA16044026	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.495C>T (p.Thr165=)	2760	GM2A	Likely benign	-1	RCV001402112;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646925	150646925	150646925	-
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg)	2760	GM2A	Uncertain significance	-1	RCV001906186;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646926	150646926	150646926	-
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)	2760	GM2A	Uncertain significance	-1	RCV003089418;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646935	150646935	NC_000005.9:g.150646935C>T	-
NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)	2760	GM2A	Uncertain significance	-1	RCV002574335;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646935	150646935	NC_000005.9:g.150646935C>A	-
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro)	2760	GM2A	Pathogenic	rs104893892	RCV000000422;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646936	150646936	5:g.150646936G>C	OMIM:613109.0002,ClinGen:CA114235,UniProtKB:P17900#VAR_011698	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.506G>A (p.Arg169His)	2760	GM2A	Uncertain significance	-1	RCV002051322\|RCV002545675;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MeSH:D030342,MedGen:C0950123	5	150646936	150646936	150646936	-
NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)	2760	GM2A	Uncertain significance	-1	RCV002828090;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646941	150646941	NC_000005.9:g.150646941G>C	-
NM_000405.5(GM2A):c.512A>T (p.Glu171Val)	2760	GM2A	Uncertain significance	-1	RCV003058048;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646942	150646942	NC_000005.9:g.150646942A>T	-
NM_000405.5(GM2A):c.516C>T (p.Ser172=)	2760	GM2A	Likely benign	-1	RCV002177195;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646946	150646946	150646946	-
NM_000405.5(GM2A):c.517G>A (p.Val173Ile)	2760	GM2A	Uncertain significance	rs532003642	RCV001157496;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646947	150646947	5:g.150646947G>A	-
NM_000405.5(GM2A):c.522G>C (p.Leu174=)	2760	GM2A	Likely benign	rs778176491	RCV002541555;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646952	150646952	5:g.150646952G>C	-
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser)	2760	GM2A	Uncertain significance	-1	RCV001885843\|RCV002552195;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MeSH:D030342,MedGen:C0950123	5	150646968	150646968	150646968	-
NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)	2760	GM2A	Uncertain significance	-1	RCV002766754;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646968	150646968	NC_000005.9:g.150646968C>T	-
NM_000405.5(GM2A):c.539G>A (p.Arg180His)	2760	GM2A	Uncertain significance	rs368576623	RCV001157497\|RCV002558379;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MeSH:D030342,MedGen:C0950123	5	150646969	150646969	5:g.150646969G>A	-
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)	2760	GM2A	Uncertain significance	-1	RCV002971450;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646969	150646969	NC_000005.9:g.150646969G>C	-
NM_000405.5(GM2A):c.558C>T (p.Ile186_Ala187=)	2760	GM2A	Likely benign	-1	RCV003072402;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646988	150646988	NC_000005.9:g.150646988C>T	-
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly)	2760	GM2A	Uncertain significance	rs761692942	RCV001157498;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150646993	150646993	5:g.150646993C>G	-
NM_000405.5(GM2A):c.570A>G (p.Leu190_Lys191=)	2760	GM2A	Likely benign	-1	RCV003065670;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647000	150647000	NC_000005.9:g.150647000A>G	-
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)	2760	GM2A	Uncertain significance	-1	RCV002591864;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647004	150647004	NC_000005.9:g.150647004G>A	-
NM_000405.5(GM2A):c.575G>T (p.Gly192Val)	2760	GM2A	Uncertain significance	rs751291017	RCV001339609\|RCV001545706\|RCV002546878;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	150647005	150647005	150647005	-
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)	2760	GM2A	Uncertain significance	-1	RCV002620515;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647009	150647009	NC_000005.9:g.150647009A>G	-
NM_000405.5(GM2A):c.582A>G (p.Ter194=)	2760	GM2A	Benign	rs1048723	RCV000153334\|RCV000278116\|RCV000675625;	N	MedGen:CN169374\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150647012	150647012	5:g.150647012A>G	ClinGen:CA180089	CN517202 not provided;
NM_000405.5(GM2A):c.*28C>T	2760	GM2A	Benign	rs9324685	RCV000250018\|RCV000337841\|RCV000675626;	N	MedGen:CN169374\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150647040	150647040	5:g.150647040C>T	ClinGen:CA3518012	CN517202 not provided;
NM_000405.5(GM2A):c.*91C>A	2760	GM2A	Uncertain significance	rs774301017	RCV001157499;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647103	150647103	5:g.150647103C>A	-
NM_000405.5(GM2A):c.*133C>T	2760	GM2A	Uncertain significance	rs1753917282	RCV001157500;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647145	150647145	5:g.150647145C>T	-
NM_000405.5(GM2A):c.*144T>C	2760	GM2A	Benign	rs9324686	RCV000406353\|RCV001672659;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150647156	150647156	NC_000005.9:g.150647156T>C	ClinGen:CA3518022	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*188A>T	2760	GM2A	Uncertain significance	rs886060269	RCV000312300;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647200	150647200	NC_000005.9:g.150647200A>T	ClinGen:CA10623796	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*226C>T	2760	GM2A	Likely benign	rs537947985	RCV000348512;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647238	150647238	NC_000005.9:g.150647238C>T	ClinGen:CA3518031	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*227A>G	2760	GM2A	Benign	rs989	RCV000394134\|RCV001541167;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150647239	150647239	NC_000005.9:g.150647239A>G	ClinGen:CA3518032	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*241C>T	2760	GM2A	Uncertain significance	rs377505668	RCV000313470;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647253	150647253	NC_000005.9:g.150647253C>T	ClinGen:CA10620967	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*245G>A	2760	GM2A	Uncertain significance	rs542291291	RCV000363025;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647257	150647257	NC_000005.9:g.150647257G>A	ClinGen:CA10619737	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*255C>T	2760	GM2A	Likely benign	rs75026189	RCV000273102;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647267	150647267	5:g.150647267C>T	ClinGen:CA10623798	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*257C>G	2760	GM2A	Uncertain significance	rs536229935	RCV001152026;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647269	150647269	5:g.150647269C>G	-
NM_000405.5(GM2A):c.*274A>G	2760	GM2A	Uncertain significance	rs886060270	RCV000309508;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647286	150647286	NC_000005.9:g.150647286A>G	ClinGen:CA10623802	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*286C>T	2760	GM2A	Uncertain significance	rs766120281	RCV001153297;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647298	150647298	5:g.150647298C>T	-
NM_000405.5(GM2A):c.*352C>G	2760	GM2A	Uncertain significance	rs564679676	RCV001153298;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647364	150647364	5:g.150647364C>G	-
NM_000405.5(GM2A):c.*356C>A	2760	GM2A	Uncertain significance	rs189626755	RCV000359612;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647368	150647368	NC_000005.9:g.150647368C>A	ClinGen:CA10620968	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*376del	2760	GM2A	Benign	rs397712620	RCV000264629;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647377	150647377	NC_000005.9:g.150647388del	ClinGen:CA10620969	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*394G>A	2760	GM2A	Uncertain significance	rs574467377	RCV001153299;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647406	150647406	5:g.150647406G>A	-
NM_000405.5(GM2A):c.*401G>A	2760	GM2A	Benign	rs116809628	RCV000324415\|RCV001618636;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246\|MedGen:CN517202	5	150647413	150647413	NC_000005.9:g.150647413G>A	ClinGen:CA10620974	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*410C>T	2760	GM2A	Uncertain significance	rs181890739	RCV001153300;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647422	150647422	5:g.150647422C>T	-
NM_000405.5(GM2A):c.*426C>T	2760	GM2A	Uncertain significance	rs370699960	RCV000378981;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647438	150647438	NC_000005.9:g.150647438C>T	ClinGen:CA10623805	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*536G>T	2760	GM2A	Benign	rs151210034	RCV000261008;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647548	150647548	NC_000005.9:g.150647548G>T	ClinGen:CA10619742	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*568G>A	2760	GM2A	Uncertain significance	rs886060271	RCV000316721;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647580	150647580	NC_000005.9:g.150647580G>A	ClinGen:CA10619743	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*629C>T	2760	GM2A	Likely benign	rs184763035	RCV001155895;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647641	150647641	5:g.150647641C>T	-
NM_000405.5(GM2A):c.*704T>A	2760	GM2A	Uncertain significance	rs569818818	RCV000376003;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647716	150647716	NC_000005.9:g.150647716T>A	ClinGen:CA10620989	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*723dup	2760	GM2A	Benign	rs35982513	RCV000281511;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647722	150647723	5:g.150647722_150647723insT	ClinGen:CA10619748	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.722_723dup	2760	GM2A	Uncertain significance	rs35982513	RCV000350521;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647722	150647723	NC_000005.9:g.150647734_150647735dup	ClinGen:CA10623806	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*724G>C	2760	GM2A	Uncertain significance	rs112641014	RCV001155896;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647736	150647736	5:g.150647736G>C	-
NM_000405.5(GM2A):c.*790C>T	2760	GM2A	Benign	rs181571430	RCV001155897;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647802	150647802	5:g.150647802C>T	-
NM_000405.5(GM2A):c.*824C>A	2760	GM2A	Benign	rs186626408	RCV000386188;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647836	150647836	5:g.150647836C>A	ClinGen:CA10619749	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*860C>T	2760	GM2A	Uncertain significance	rs368971605	RCV000296591;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647872	150647872	5:g.150647872C>T	ClinGen:CA10623807	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*862C>G	2760	GM2A	Uncertain significance	rs781320720	RCV001157597;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647874	150647874	5:g.150647874C>G	-
NM_000405.5(GM2A):c.*864C>T	2760	GM2A	Likely benign	rs191120902	RCV001157598;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647876	150647876	5:g.150647876C>T	-
NM_000405.5(GM2A):c.*868T>C	2760	GM2A	Uncertain significance	rs886060272	RCV000351499;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647880	150647880	5:g.150647880T>C	ClinGen:CA10623628	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*903C>T	2760	GM2A	Uncertain significance	rs1753937645	RCV001157599;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647915	150647915	5:g.150647915C>T	-
NM_000405.5(GM2A):c.*938G>A	2760	GM2A	Benign	rs1130163	RCV000404489;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647950	150647950	5:g.150647950G>A	ClinGen:CA10619751	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*944T>C	2760	GM2A	Benign	rs149174	RCV000287549;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647956	150647956	5:g.150647956T>C	ClinGen:CA10619754	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*984A>G	2760	GM2A	Uncertain significance	rs866309305	RCV001157600;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150647996	150647996	5:g.150647996A>G	-
NM_000405.5(GM2A):c.*1068A>G	2760	GM2A	Uncertain significance	rs576574973	RCV001152131;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648080	150648080	5:g.150648080A>G	-
NM_000405.5(GM2A):c.*1239dup	2760	GM2A	Benign	rs397883774	RCV000347139;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648242	150648243	NC_000005.9:g.150648251dup	ClinGen:CA10623629	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1241T>C	2760	GM2A	Uncertain significance	rs541818620	RCV000397988;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648253	150648253	NC_000005.9:g.150648253T>C	ClinGen:CA10623630	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1246A>G	2760	GM2A	Uncertain significance	rs760209124	RCV000302774;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648258	150648258	NC_000005.9:g.150648258A>G	ClinGen:CA10623814	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1274dup	2760	GM2A	Benign	rs397716595	RCV000357750;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648284	150648285	NC_000005.9:g.150648286dup	ClinGen:CA10619758	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1312G>T	2760	GM2A	Likely benign	rs541345989	RCV001152132;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648324	150648324	5:g.150648324G>T	-
NM_000405.5(GM2A):c.*1362G>C	2760	GM2A	Uncertain significance	rs886060273	RCV000397999;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648374	150648374	NC_000005.9:g.150648374G>C	ClinGen:CA10623816	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1410A>C	2760	GM2A	Uncertain significance	rs181014044	RCV000304177;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648422	150648422	NC_000005.9:g.150648422A>C	ClinGen:CA10619761	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1445G>A	2760	GM2A	Benign	rs153450	RCV000354305;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648457	150648457	NC_000005.9:g.150648457G>A	ClinGen:CA10623631	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1673A>G	2760	GM2A	Uncertain significance	rs920253935	RCV001152133;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648685	150648685	5:g.150648685A>G	-
NM_000405.5(GM2A):c.*1695C>A	2760	GM2A	Benign	rs115956086	RCV000259499;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648707	150648707	NC_000005.9:g.150648707C>A	ClinGen:CA10623817	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1708A>G	2760	GM2A	Uncertain significance	rs1469616524	RCV001153408;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648720	150648720	5:g.150648720A>G	-
NM_000405.5(GM2A):c.*1829C>T	2760	GM2A	Benign	rs3806952	RCV000319402;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648841	150648841	NC_000005.9:g.150648841C>T	ClinGen:CA10623819	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1866C>T	2760	GM2A	Benign	rs3806953	RCV000355568;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648878	150648878	NC_000005.9:g.150648878C>T	ClinGen:CA10623820	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1899G>C	2760	GM2A	Uncertain significance	rs886060274	RCV000275246;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648911	150648911	NC_000005.9:g.150648911G>C	ClinGen:CA10623638	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1927C>G	2760	GM2A	Uncertain significance	rs1413471325	RCV001153409;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150648939	150648939	5:g.150648939C>G	-
NM_000405.5(GM2A):c.*1994A>G	2760	GM2A	Benign	rs12516391	RCV000330280;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649006	150649006	NC_000005.9:g.150649006A>G	ClinGen:CA10623823	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2009A>G	2760	GM2A	Uncertain significance	rs1753965351	RCV001153410;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649021	150649021	5:g.150649021A>G	-
NM_000405.5(GM2A):c.*2113G>A	2760	GM2A	Uncertain significance	rs886060275	RCV000389438;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649125	150649125	NC_000005.9:g.150649125G>A	ClinGen:CA10619765	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2141C>T	2760	GM2A	Benign	rs153449	RCV000295093;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649153	150649153	NC_000005.9:g.150649153C>T	ClinGen:CA10620990	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2206C>T	2760	GM2A	Uncertain significance	rs1753968753	RCV001156008;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649218	150649218	5:g.150649218C>T	-
NM_000405.5(GM2A):c.*2363C>T	2760	GM2A	Uncertain significance	rs566427956	RCV001156009;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649375	150649375	5:g.150649375C>T	-
NM_000405.5(GM2A):c.*2430T>C	2760	GM2A	Benign	rs3734041	RCV000326691;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649442	150649442	NC_000005.9:g.150649442T>C	ClinGen:CA10623639	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2452A>C	2760	GM2A	Uncertain significance	rs1037658502	RCV001156010;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649464	150649464	5:g.150649464A>C	-
NM_000405.5(GM2A):c.*2479C>T	2760	GM2A	Uncertain significance	rs886060276	RCV000384650;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649491	150649491	NC_000005.9:g.150649491C>T	ClinGen:CA10620991	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2519G>A	2760	GM2A	Uncertain significance	rs138240164	RCV000290201;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649531	150649531	NC_000005.9:g.150649531G>A	ClinGen:CA10623640	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2529G>A	2760	GM2A	Uncertain significance	rs747946670	RCV000340618;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649541	150649541	NC_000005.9:g.150649541G>A	ClinGen:CA10621004	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2550C>T	2760	GM2A	Uncertain significance	rs886060277	RCV000402882;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649562	150649562	NC_000005.9:g.150649562C>T	ClinGen:CA10619768	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2619C>T	2760	GM2A	Uncertain significance	rs772153529	RCV001157723;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649631	150649631	5:g.150649631C>T	-
NM_000405.5(GM2A):c.*2624C>T	2760	GM2A	Uncertain significance	rs886060278	RCV000286558;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649636	150649636	NC_000005.9:g.150649636C>T	ClinGen:CA10621005	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2643G>T	2760	GM2A	Likely benign	rs114108271	RCV000341577;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649655	150649655	NC_000005.9:g.150649655G>T	ClinGen:CA10623824	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2695G>A	2760	GM2A	Uncertain significance	rs770518416	RCV000404785;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649707	150649707	NC_000005.9:g.150649707G>A	ClinGen:CA10621006	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.2717_2720del	2760	GM2A	Benign	rs35384604	RCV000297292;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649726	150649729	NC_000005.9:g.150649729_150649732del	ClinGen:CA10621007	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2767C>T	2760	GM2A	Benign	rs117832237	RCV000356511;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649779	150649779	NC_000005.9:g.150649779C>T	ClinGen:CA10623645	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2801A>G	2760	GM2A	Benign	rs111935946	RCV000395484;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649813	150649813	NC_000005.9:g.150649813A>G	ClinGen:CA10623825	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2849G>A	2760	GM2A	Benign	rs10076053	RCV000312088;	N	MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	5	150649861	150649861	NC_000005.9:g.150649861G>A	ClinGen:CA10619769	C0268275 272750 Tay-Sachs disease, variant AB;
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	3073	HEXA	Conflicting interpretations of pathogenicity	rs121907977	RCV000004139\|RCV001250228;	N	MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845\|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845; MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246	15	72641504	72641504	15:g.72641504A>C	ClinGen:CA252931,UniProtKB:P06865#VAR_003227,OMIM:606869.0047	C0039373 272800 Tay-Sachs disease;
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)	3073	HEXA	Conflicting interpretations of pathogenicity	rs759157781	RCV000672419\|RCV001250237;	N	MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845\|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246; MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845	15	72668205	72668205	15:g.72668205A>T	-	C0039373 272800 Tay-Sachs disease;

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