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Gangliosidoses, GM2 (D020143)
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Tay-Sachs Disease, AB Variant (D049290)

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..expandSandhoff Disease (D012497) Child3
..expandTay-Sachs Disease (D013661) Child6
..expandTay-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:AB Variant Gangliosidosis GM2 |AB Variant GM2-Gangliosidoses |AB Variant GM2 Gangliosidosis |AB Variant GM2-Gangliosidosis |Activator Deficiencies, GM2 |Activator Deficiencies, Hexosaminidase |Activator Deficiency, GM2 |Activator Deficiency GM2 Gangliosidosis |A
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D049290
MeSH: D049290
OMIM: 272750;
MSeqDR LSDB:  
Genes: GM2A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007256Abnormal pyramidal signs
3 HP:0000741Apathy
4 HP:0002835Aspiration
5 HP:0000618Blindness
6 HP:0002059Cerebral atrophy
7 HP:0002072Chorea
NAMDC:  Chorea
8 HP:0000726Dementia
NAMDC:  Dementia
9 HP:0001332Dystonia
NAMDC:  Dystonia
10 HP:0002267Exaggerated startle response
11 HP:0001290Generalized hypotonia
12 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
13 HP:0001263Global developmental delay
NAMDC:  Mental retardation
14 HP:0003495GM2-ganglioside accumulation
15 HP:0010780Hyperacusis
16 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
17 HP:0001276Hypertonia
18 HP:0002371Loss of speech
19 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
20 HP:0008936Muscular hypotonia of the trunk
21 HP:0002180Neurodegeneration
22 HP:0003470Paralysis
23 HP:0002421Poor head control
24 HP:0002476Primitive reflex
25 HP:0001250Seizures
NAMDC:  Seizures
26 HP:0001285Spastic tetraparesis
27 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000005.10:g.151253113T>C2760GM2AUncertain significancers1753617546RCV001153183; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632674150632674TC5:g.150632674T>C-
NM_000405.4(GM2A):c.-102A>G2760GM2ABenignrs2277028RCV000369671|RCV001709624; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150632676150632676AGNC_000005.9:g.150632676A>GClinGen:CA10623791C0268275 272750 Tay-Sachs disease, variant AB;
NC_000005.10:g.151253134C>G2760GM2AUncertain significancers1753618021RCV001153184; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632695150632695CG5:g.150632695C>G-
NM_000405.4(GM2A):c.-44G>A2760GM2ABenignrs144932594RCV000270337; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632734150632734GANC_000005.9:g.150632734G>AClinGen:CA3517808C0268275 272750 Tay-Sachs disease, variant AB;
NC_000005.10:g.(?_151253197)_(151267660_?)del2760GM2APathogenic-1RCV000634578; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632758150647221nana-C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.-7C>G2760GM2AUncertain significancers371628812RCV000325440; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632771150632771CGNC_000005.9:g.150632771C>GClinGen:CA10623624C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)2760GM2ALikely pathogenic-1RCV001782204; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632781150632781CT150632781-
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln)2760GM2AUncertain significancers762676667RCV001037876; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632788150632788TA5:g.150632788T>A-
NM_000405.5(GM2A):c.13A>T (p.Met5Leu)2760GM2AUncertain significancers557461469RCV001153185; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632790150632790AT5:g.150632790A>T-
NM_000405.5(GM2A):c.24C>T (p.Pro8=)2760GM2ALikely benign-1RCV002146503; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632801150632801CT150632801-
NM_000405.5(GM2A):c.33C>T (p.Ile11=)2760GM2ABenign/Likely benignrs143867953RCV000897047|RCV001153186; NMedGen:CN517202|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632810150632810CT5:g.150632810C>T-
NM_000405.5(GM2A):c.37C>T (p.Leu13=)2760GM2AUncertain significancers1753622145RCV001153187; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632814150632814CT5:g.150632814C>T-
NM_000405.5(GM2A):c.39G>A (p.Leu13=)2760GM2AUncertain significancers374161170RCV000808931; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632816150632816GA5:g.150632816G>A-
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)2760GM2ABenignrs1048719RCV000250898|RCV000384587|RCV000675620; NMedGen:CN169374|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150632832150632832GANC_000005.9:g.150632832G>AClinGen:CA3517840,UniProtKB:P17900#VAR_013830CN517202 not provided;
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn)2760GM2ALikely benignrs28365994RCV000271517; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150632855150632855ATNC_000005.9:g.150632855A>TClinGen:CA3517846C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.82-15C>T2760GM2ALikely benign-1RCV002090456; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639301150639301CT150639301-
NM_000405.5(GM2A):c.82-8G>C2760GM2ALikely benign-1RCV002148575; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639308150639308GC150639308-
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)2760GM2AUncertain significance-1RCV001878113; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639319150639319TC150639319-
NM_000405.5(GM2A):c.126G>A (p.Gly42=)2760GM2ABenign/Likely benignrs113271740RCV000321739; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639360150639360GANC_000005.9:g.150639360G>AClinGen:CA3517874C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.139G>A (p.Val47Met)2760GM2AUncertain significance-1RCV002043241; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639373150639373GA150639373-
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter)2760GM2APathogenicrs104893897RCV000000425; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639394150639394GT5:g.150639394G>TClinGen:CA114236,OMIM:613109.0005C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)2760GM2APathogenic/Likely pathogenicrs730882196RCV000162097|RCV000235077; NMedGen:CN228274|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639398150639398CTNC_000005.9:g.150639398C>TClinGen:CA186039,OMIM:613109.0006CN228274 Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy;
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)2760GM2ABenignrs153477RCV000153332|RCV000376352|RCV000675621; NMedGen:CN169374|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150639409150639409AG5:g.150639409A>GClinGen:CA180085,UniProtKB:P17900#VAR_036892CN517202 not provided;
NM_000405.5(GM2A):c.177C>T (p.Ile59=)2760GM2ALikely benign-1RCV002100187; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639411150639411CT150639411-
NM_000405.5(GM2A):c.178G>A (p.Val60Ile)2760GM2AUncertain significance-1RCV001936195; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639412150639412GA150639412-
NM_000405.5(GM2A):c.178G>C (p.Val60Leu)2760GM2AUncertain significance-1RCV001981224; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639412150639412GC150639412-
NM_000405.5(GM2A):c.195C>T (p.Thr65=)2760GM2ALikely benign-1RCV002108595; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639429150639429CT150639429-
NM_000405.5(GM2A):c.205A>G (p.Met69Val)2760GM2ABenignrs153478RCV000153333|RCV000286625|RCV000675622; NMedGen:CN169374|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150639439150639439AG5:g.150639439A>GClinGen:CA180087,UniProtKB:P17900#VAR_036893CN517202 not provided;
NM_000405.5(GM2A):c.207G>A (p.Met69Ile)2760GM2AUncertain significance-1RCV001934574; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150639441150639441GA150639441-
NM_000405.5(GM2A):c.244-13T>G2760GM2ALikely benign-1RCV002084431; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646279150646279TG150646279-
NM_000405.5(GM2A):c.244-6T>C2760GM2ALikely benign-1RCV002173619; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646286150646286TC150646286-
NM_000405.5(GM2A):c.244-2A>T2760GM2ALikely pathogenicrs1057519022RCV000416363; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646290150646290ATNC_000005.9:g.150646290A>TClinGen:CA16044025C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.244G>C (p.Val82Leu)2760GM2AUncertain significance-1RCV001914118; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646292150646292GC150646292-
NM_000405.5(GM2A):c.254T>G (p.Val85Gly)2760GM2AUncertain significancers143999954RCV000341668; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646302150646302TGNC_000005.9:g.150646302T>GClinGen:CA3517917C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.262_264del (p.Lys88del)2760GM2ALikely pathogenicrs1753894328RCV001253492; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646308150646310GAGAG5:g.150646308_150646310delOMIM:613109.0003
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)2760GM2AUncertain significancers1753894633RCV001344003; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646324150646325CCTT150646324-
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg)2760GM2AUncertain significance-1RCV002047070; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646326150646327TCGT150646326-
NM_000405.5(GM2A):c.308T>C (p.Ile103Thr)2760GM2AUncertain significancers1443880021RCV001331205; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646356150646356TC150646356-
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys)2760GM2AUncertain significancers1561620130RCV000761512; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646427150646427GANC_000005.9:g.150646427G>A-
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys)2760GM2AUncertain significance-1RCV001947306; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646436150646436CT150646436-
NM_000405.5(GM2A):c.410del (p.His137fs)2760GM2APathogenic-1RCV000000424; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646458150646458CACNC_000005.9:g.150646458delOMIM:613109.0004C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)2760GM2APathogenicrs137852797RCV000000421; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646460150646460TC5:g.150646460T>CClinGen:CA114233,UniProtKB:P17900#VAR_006947,OMIM:613109.0001C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.427-13G>A2760GM2AUncertain significancers1753905990RCV001331206; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646844150646844GA150646844-
NM_000405.5(GM2A):c.450C>T (p.Ser150=)2760GM2ALikely benign-1RCV002090145; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646880150646880CT150646880-
NM_000405.5(GM2A):c.458T>C (p.Val153Ala)2760GM2ABenignrs61740602RCV000372708|RCV000675624; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150646888150646888TCNC_000005.9:g.150646888T>CClinGen:CA3517976CN517202 not provided;
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter)2760GM2ALikely pathogenicrs1057519021RCV000416329; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646902150646902GTNC_000005.9:g.150646902G>TClinGen:CA16044026C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.495C>T (p.Thr165=)2760GM2ALikely benign-1RCV001402112; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646925150646925CT150646925-
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg)2760GM2AUncertain significance-1RCV001906186; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646926150646926GA150646926-
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro)2760GM2APathogenicrs104893892RCV000000422; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646936150646936GC5:g.150646936G>CClinGen:CA114235,UniProtKB:P17900#VAR_011698,OMIM:613109.0002C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.506G>A (p.Arg169His)2760GM2AUncertain significance-1RCV002051322; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646936150646936GA150646936-
NM_000405.5(GM2A):c.516C>T (p.Ser172=)2760GM2ALikely benign-1RCV002177195; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646946150646946CT150646946-
NM_000405.5(GM2A):c.517G>A (p.Val173Ile)2760GM2AUncertain significancers532003642RCV001157496; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646947150646947GA5:g.150646947G>A-
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser)2760GM2AUncertain significance-1RCV001885843; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646968150646968CA150646968-
NM_000405.5(GM2A):c.539G>A (p.Arg180His)2760GM2AUncertain significancers368576623RCV001157497; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646969150646969GA5:g.150646969G>A-
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly)2760GM2AUncertain significancers761692942RCV001157498; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150646993150646993CG5:g.150646993C>G-
NM_000405.5(GM2A):c.575G>T (p.Gly192Val)2760GM2AUncertain significancers751291017RCV001545706|RCV001339609; NMedGen:CN517202|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647005150647005GT150647005-
NM_000405.5(GM2A):c.582A>G (p.Ter194=)2760GM2ABenignrs1048723RCV000153334|RCV000278116|RCV000675625; NMedGen:CN169374|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150647012150647012AG5:g.150647012A>GClinGen:CA180089CN517202 not provided;
NM_000405.5(GM2A):c.*28C>T2760GM2ABenignrs9324685RCV000250018|RCV000337841|RCV000675626; NMedGen:CN169374|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150647040150647040CT5:g.150647040C>TClinGen:CA3518012CN517202 not provided;
NM_000405.5(GM2A):c.*91C>A2760GM2AUncertain significancers774301017RCV001157499; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647103150647103CA5:g.150647103C>A-
NM_000405.5(GM2A):c.*133C>T2760GM2AUncertain significancers1753917282RCV001157500; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647145150647145CT5:g.150647145C>T-
NM_000405.5(GM2A):c.*144T>C2760GM2ABenignrs9324686RCV000406353|RCV001672659; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150647156150647156TCNC_000005.9:g.150647156T>CClinGen:CA3518022C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*188A>T2760GM2AUncertain significancers886060269RCV000312300; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647200150647200ATNC_000005.9:g.150647200A>TClinGen:CA10623796C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*226C>T2760GM2ALikely benignrs537947985RCV000348512; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647238150647238CTNC_000005.9:g.150647238C>TClinGen:CA3518031C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*227A>G2760GM2ABenignrs989RCV000394134|RCV001541167; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150647239150647239AGNC_000005.9:g.150647239A>GClinGen:CA3518032C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*241C>T2760GM2AUncertain significancers377505668RCV000313470; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647253150647253CTNC_000005.9:g.150647253C>TClinGen:CA10620967C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*245G>A2760GM2AUncertain significancers542291291RCV000363025; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647257150647257GANC_000005.9:g.150647257G>AClinGen:CA10619737C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*255C>T2760GM2ALikely benignrs75026189RCV000273102; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647267150647267CT5:g.150647267C>TClinGen:CA10623798C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*257C>G2760GM2AUncertain significancers536229935RCV001152026; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647269150647269CG5:g.150647269C>G-
NM_000405.5(GM2A):c.*274A>G2760GM2AUncertain significancers886060270RCV000309508; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647286150647286AGNC_000005.9:g.150647286A>GClinGen:CA10623802C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*286C>T2760GM2AUncertain significancers766120281RCV001153297; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647298150647298CT5:g.150647298C>T-
NM_000405.5(GM2A):c.*352C>G2760GM2AUncertain significancers564679676RCV001153298; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647364150647364CG5:g.150647364C>G-
NM_000405.5(GM2A):c.*356C>A2760GM2AUncertain significancers189626755RCV000359612; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647368150647368CANC_000005.9:g.150647368C>AClinGen:CA10620968C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*376del2760GM2ABenignrs397712620RCV000264629; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647377150647377CTCNC_000005.9:g.150647388delClinGen:CA10620969C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*394G>A2760GM2AUncertain significancers574467377RCV001153299; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647406150647406GA5:g.150647406G>A-
NM_000405.5(GM2A):c.*401G>A2760GM2ABenignrs116809628RCV000324415|RCV001618636; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246|MedGen:CN5172025150647413150647413GANC_000005.9:g.150647413G>AClinGen:CA10620974C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*410C>T2760GM2AUncertain significancers181890739RCV001153300; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647422150647422CT5:g.150647422C>T-
NM_000405.5(GM2A):c.*426C>T2760GM2AUncertain significancers370699960RCV000378981; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647438150647438CTNC_000005.9:g.150647438C>TClinGen:CA10623805C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*536G>T2760GM2ABenignrs151210034RCV000261008; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647548150647548GTNC_000005.9:g.150647548G>TClinGen:CA10619742C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*568G>A2760GM2AUncertain significancers886060271RCV000316721; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647580150647580GANC_000005.9:g.150647580G>AClinGen:CA10619743C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*629C>T2760GM2ALikely benignrs184763035RCV001155895; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647641150647641CT5:g.150647641C>T-
NM_000405.5(GM2A):c.*704T>A2760GM2AUncertain significancers569818818RCV000376003; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647716150647716TANC_000005.9:g.150647716T>AClinGen:CA10620989C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*723dup2760GM2ABenignrs35982513RCV000281511; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647722150647723CCT5:g.150647722_150647723insTClinGen:CA10619748C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*722_*723dup2760GM2AUncertain significancers35982513RCV000350521; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647722150647723CCTTNC_000005.9:g.150647734_150647735dupClinGen:CA10623806C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*724G>C2760GM2AUncertain significancers112641014RCV001155896; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647736150647736GC5:g.150647736G>C-
NM_000405.5(GM2A):c.*790C>T2760GM2ABenignrs181571430RCV001155897; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647802150647802CT5:g.150647802C>T-
NM_000405.5(GM2A):c.*824C>A2760GM2ABenignrs186626408RCV000386188; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647836150647836CA5:g.150647836C>AClinGen:CA10619749C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*860C>T2760GM2AUncertain significancers368971605RCV000296591; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647872150647872CT5:g.150647872C>TClinGen:CA10623807C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*862C>G2760GM2AUncertain significancers781320720RCV001157597; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647874150647874CG5:g.150647874C>G-
NM_000405.5(GM2A):c.*864C>T2760GM2ALikely benignrs191120902RCV001157598; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647876150647876CT5:g.150647876C>T-
NM_000405.5(GM2A):c.*868T>C2760GM2AUncertain significancers886060272RCV000351499; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647880150647880TC5:g.150647880T>CClinGen:CA10623628C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*903C>T2760GM2AUncertain significancers1753937645RCV001157599; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647915150647915CT5:g.150647915C>T-
NM_000405.5(GM2A):c.*938G>A2760GM2ABenignrs1130163RCV000404489; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647950150647950GA5:g.150647950G>AClinGen:CA10619751C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*944T>C2760GM2ABenignrs149174RCV000287549; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647956150647956TC5:g.150647956T>CClinGen:CA10619754C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*984A>G2760GM2AUncertain significancers866309305RCV001157600; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150647996150647996AG5:g.150647996A>G-
NM_000405.5(GM2A):c.*1068A>G2760GM2AUncertain significancers576574973RCV001152131; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648080150648080AG5:g.150648080A>G-
NM_000405.5(GM2A):c.*1239dup2760GM2ABenignrs397883774RCV000347139; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648242150648243CCANC_000005.9:g.150648251dupClinGen:CA10623629C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1241T>C2760GM2AUncertain significancers541818620RCV000397988; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648253150648253TCNC_000005.9:g.150648253T>CClinGen:CA10623630C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1246A>G2760GM2AUncertain significancers760209124RCV000302774; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648258150648258AGNC_000005.9:g.150648258A>GClinGen:CA10623814C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1274dup2760GM2ABenignrs397716595RCV000357750; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648284150648285TTCNC_000005.9:g.150648286dupClinGen:CA10619758C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1312G>T2760GM2ALikely benignrs541345989RCV001152132; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648324150648324GT5:g.150648324G>T-
NM_000405.5(GM2A):c.*1362G>C2760GM2AUncertain significancers886060273RCV000397999; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648374150648374GCNC_000005.9:g.150648374G>CClinGen:CA10623816C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1410A>C2760GM2AUncertain significancers181014044RCV000304177; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648422150648422ACNC_000005.9:g.150648422A>CClinGen:CA10619761C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1445G>A2760GM2ABenignrs153450RCV000354305; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648457150648457GANC_000005.9:g.150648457G>AClinGen:CA10623631C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1673A>G2760GM2AUncertain significancers920253935RCV001152133; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648685150648685AG5:g.150648685A>G-
NM_000405.5(GM2A):c.*1695C>A2760GM2ABenignrs115956086RCV000259499; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648707150648707CANC_000005.9:g.150648707C>AClinGen:CA10623817C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1708A>G2760GM2AUncertain significancers1469616524RCV001153408; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648720150648720AG5:g.150648720A>G-
NM_000405.5(GM2A):c.*1829C>T2760GM2ABenignrs3806952RCV000319402; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648841150648841CTNC_000005.9:g.150648841C>TClinGen:CA10623819C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1866C>T2760GM2ABenignrs3806953RCV000355568; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648878150648878CTNC_000005.9:g.150648878C>TClinGen:CA10623820C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1899G>C2760GM2AUncertain significancers886060274RCV000275246; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648911150648911GCNC_000005.9:g.150648911G>CClinGen:CA10623638C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*1927C>G2760GM2AUncertain significancers1413471325RCV001153409; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150648939150648939CG5:g.150648939C>G-
NM_000405.5(GM2A):c.*1994A>G2760GM2ABenignrs12516391RCV000330280; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649006150649006AGNC_000005.9:g.150649006A>GClinGen:CA10623823C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2009A>G2760GM2AUncertain significancers1753965351RCV001153410; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649021150649021AG5:g.150649021A>G-
NM_000405.5(GM2A):c.*2113G>A2760GM2AUncertain significancers886060275RCV000389438; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649125150649125GANC_000005.9:g.150649125G>AClinGen:CA10619765C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2141C>T2760GM2ABenignrs153449RCV000295093; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649153150649153CTNC_000005.9:g.150649153C>TClinGen:CA10620990C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2206C>T2760GM2AUncertain significancers1753968753RCV001156008; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649218150649218CT5:g.150649218C>T-
NM_000405.5(GM2A):c.*2363C>T2760GM2AUncertain significancers566427956RCV001156009; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649375150649375CT5:g.150649375C>T-
NM_000405.5(GM2A):c.*2430T>C2760GM2ABenignrs3734041RCV000326691; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649442150649442TCNC_000005.9:g.150649442T>CClinGen:CA10623639C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2452A>C2760GM2AUncertain significancers1037658502RCV001156010; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649464150649464AC5:g.150649464A>C-
NM_000405.5(GM2A):c.*2479C>T2760GM2AUncertain significancers886060276RCV000384650; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649491150649491CTNC_000005.9:g.150649491C>TClinGen:CA10620991C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2519G>A2760GM2AUncertain significancers138240164RCV000290201; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649531150649531GANC_000005.9:g.150649531G>AClinGen:CA10623640C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2529G>A2760GM2AUncertain significancers747946670RCV000340618; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649541150649541GANC_000005.9:g.150649541G>AClinGen:CA10621004C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2550C>T2760GM2AUncertain significancers886060277RCV000402882; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649562150649562CTNC_000005.9:g.150649562C>TClinGen:CA10619768C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2619C>T2760GM2AUncertain significancers772153529RCV001157723; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649631150649631CT5:g.150649631C>T-
NM_000405.5(GM2A):c.*2624C>T2760GM2AUncertain significancers886060278RCV000286558; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649636150649636CTNC_000005.9:g.150649636C>TClinGen:CA10621005C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2643G>T2760GM2ALikely benignrs114108271RCV000341577; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649655150649655GTNC_000005.9:g.150649655G>TClinGen:CA10623824C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2695G>A2760GM2AUncertain significancers770518416RCV000404785; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649707150649707GANC_000005.9:g.150649707G>AClinGen:CA10621006C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2717_*2720del2760GM2ABenignrs35384604RCV000297292; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649726150649729TAATATNC_000005.9:g.150649729_150649732delClinGen:CA10621007C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2767C>T2760GM2ABenignrs117832237RCV000356511; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649779150649779CTNC_000005.9:g.150649779C>TClinGen:CA10623645C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2801A>G2760GM2ABenignrs111935946RCV000395484; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649813150649813AGNC_000005.9:g.150649813A>GClinGen:CA10623825C0268275 272750 Tay-Sachs disease, variant AB;
NM_000405.5(GM2A):c.*2849G>A2760GM2ABenignrs10076053RCV000312088; NMONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:3092465150649861150649861GANC_000005.9:g.150649861G>AClinGen:CA10619769C0268275 272750 Tay-Sachs disease, variant AB;
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)3073HEXAPathogenicrs387906309RCV000004093|RCV000224443|RCV000623223|RCV001250227|RCV001252517; YMONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010099,MedGen:C0268275,OMIM:272750, Orphanet:309246; MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800, Orphanet:845|Human Phenotype Ontolo157263892172638924GGGATA15:g.72638920_72638921insGATAClinGen:CA325516,OMIM:606869.0001C0950123 Inborn genetic diseases;
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)3073HEXAConflicting interpretations of pathogenicityrs121907977RCV000004139|RCV001250228; NMONDO: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:845157264150472641504AC15:g.72641504A>CClinGen:CA252931,UniProtKB:P06865#VAR_003227,OMIM:606869.0047C0039373 272800 Tay-Sachs disease;
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)3073HEXAConflicting interpretations of pathogenicityrs759157781RCV000672419|RCV001250237; NMONDO: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:309246157266820572668205AT15:g.72668205A>T-C0039373 272800 Tay-Sachs disease;
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