HEXB (hexosaminidase subunit beta) - Rat Genome Database

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Gene: HEXB (hexosaminidase subunit beta) Homo sapiens
Analyze
Symbol: HEXB
Name: hexosaminidase subunit beta
RGD ID: 1316898
HGNC Page HGNC:4879
Description: Enables acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and identical protein binding activity. Involved in ganglioside catabolic process and glycosaminoglycan metabolic process. Located in azurophil granule and beta-N-acetylhexosaminidase complex. Implicated in Sandhoff disease and spinal muscular atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-hexosaminidase beta-subunit; beta-hexosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; ENC-1AS; epididymis luminal protein 248; epididymis secretory protein Li 111; HCC-7; HEL-248; HEL-S-111; hexosaminidase B (beta polypeptide); hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38574,640,023 - 74,721,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl574,640,023 - 74,722,647 (+)EnsemblGRCh38hg38GRCh38
GRCh37573,935,848 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36574,016,767 - 74,052,869 (+)NCBINCBI36Build 36hg18NCBI36
Build 34574,016,766 - 74,052,869NCBI
Celera569,875,759 - 69,911,869 (+)NCBICelera
Cytogenetic Map5q13.3NCBI
HuRef569,185,979 - 69,222,054 (+)NCBIHuRef
CHM1_1573,413,670 - 73,449,974 (+)NCBICHM1_1
T2T-CHM13v2.0575,120,988 - 75,202,190 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dioxane  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-Methylaziridine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrolein  (EXP)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
amiodarone  (EXP)
ampicillin  (ISO)
aristolochic acid A  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
astemizole  (ISO)
atracurium  (EXP)
atrazine  (EXP,ISO)
azithromycin  (ISO)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
biphenyl-2-ol  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bitertanol  (ISO)
Brodifacoum  (ISO)
buspirone  (ISO)
butylated hydroxyanisole  (ISO)
Butylparaben  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cetirizine  (ISO)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
compound 48/80  (EXP)
cupressuflavone  (ISO)
cyclosporin A  (EXP,ISO)
deguelin  (EXP)
dexamethasone  (EXP)
dextromethorphan  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
enniatin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flunarizine  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-linolenic acid  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hydroxyzine  (ISO)
indometacin  (EXP)
iodixanol  (EXP)
iohexol  (EXP)
ionomycin  (EXP,ISO)
iopromide  (EXP)
Ioversol  (EXP)
ivermectin  (EXP)
KN-93  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
metronidazole  (ISO)
Mibefradil  (ISO)
ML-7  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N,O-dimethyltyramine  (EXP)
N-(4-aminobutyl)-5-chloronaphthalene-2-sulfonamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methylnicotinate  (EXP)
N-nitrosodiethylamine  (ISO)
neomycin  (ISO)
nickel dichloride  (ISO)
oxatomide  (ISO)
oxycodone  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
prothiofos  (ISO)
pyridaben  (ISO)
pyrimethamine  (EXP)
pyrimidifen  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
Salinomycin  (ISO)
SB 431542  (EXP)
sevoflurane  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
terbufos  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vecuronium bromide  (EXP)
Yessotoxin  (EXP)
zinc dichloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal glycosphingolipid metabolism  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal thalamic MRI signal intensity  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Acroparesthesia  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Blue nevus  (IAGP)
Cardiomegaly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cherry red spot of the macula  (IAGP)
Chronic diarrhea  (IAGP)
CNS hypomyelination  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Death in childhood  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Distal muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Episodic abdominal pain  (IAGP)
Exaggerated startle response  (IAGP)
Failure to thrive  (IAGP)
Fasciculations  (IAGP)
Focal dystonia  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperactive patellar reflex  (IAGP)
Hyperacusis  (IAGP)
Hyperhidrosis  (IAGP)
Hyperreflexia  (IAGP)
Hypersomnia  (IAGP)
Hypohidrosis  (IAGP)
Hypotonia  (IAGP)
Impaired temperature sensation  (IAGP)
Impotence  (IAGP)
Incoordination  (IAGP)
Increased urinary N-acetylglucosamine-rich oligosaccharide level  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile onset  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Limb joint contracture  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mental deterioration  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Neurodevelopmental delay  (IAGP)
Orthostatic hypotension  (IAGP)
Pes cavus  (IAGP)
Progressive macrocephaly  (IAGP)
Progressive psychomotor deterioration  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Reduced beta-hexosaminidase activity  (IAGP)
Reduced tendon reflexes  (IAGP)
Seizure  (IAGP)
Sensory axonal neuropathy  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Stuttering  (IAGP)
Tremor  (IAGP)
Upper limb muscle weakness  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Urinary incontinence  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. Banerjee P, etal., Biochem Biophys Res Commun. 1991 Nov 27;181(1):108-15.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. Neote K, etal., J Clin Invest. 1990 Nov;86(5):1524-31.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1054503   PMID:1386607   PMID:1487253   PMID:1531140   PMID:1825792   PMID:1967020   PMID:2139028   PMID:2147427   PMID:2170400   PMID:2522450   PMID:2525487   PMID:2579389  
PMID:2921040   PMID:2948136   PMID:2964638   PMID:2965147   PMID:2966076   PMID:2971039   PMID:2971395   PMID:2977375   PMID:3013851   PMID:6230359   PMID:6458607   PMID:6959123  
PMID:7177110   PMID:7299841   PMID:7557963   PMID:7626071   PMID:7633435   PMID:8045559   PMID:8106452   PMID:8123671   PMID:8357844   PMID:8634145   PMID:8663217   PMID:8672428  
PMID:8673609   PMID:8950198   PMID:9401004   PMID:9694901   PMID:9856491   PMID:9888387   PMID:10571007   PMID:10591618   PMID:10982028   PMID:11447134   PMID:11707436   PMID:12413610  
PMID:12477932   PMID:12662933   PMID:12706724   PMID:12754519   PMID:14702039   PMID:15459180   PMID:15485660   PMID:15489334   PMID:15953731   PMID:16352452   PMID:16698036   PMID:16710745  
PMID:17251047   PMID:18180457   PMID:18204279   PMID:18217416   PMID:18552385   PMID:18588514   PMID:18758829   PMID:18930675   PMID:19278737   PMID:19615986   PMID:19913121   PMID:19946888  
PMID:20628086   PMID:20800603   PMID:21307379   PMID:21321400   PMID:21637923   PMID:21873635   PMID:21900206   PMID:21978926   PMID:21997228   PMID:22191674   PMID:22268729   PMID:22789865  
PMID:22848519   PMID:22863301   PMID:22863883   PMID:23046579   PMID:23349634   PMID:23370522   PMID:23376485   PMID:23533145   PMID:23886397   PMID:23906468   PMID:23911049   PMID:24461908  
PMID:24518553   PMID:25645918   PMID:25659154   PMID:26344197   PMID:26496610   PMID:26582265   PMID:27018595   PMID:27105913   PMID:27682710   PMID:28514442   PMID:28846871   PMID:29128334  
PMID:29448188   PMID:30397336   PMID:31682993   PMID:31852446   PMID:31919734   PMID:32296183   PMID:32814053   PMID:32963011   PMID:33407268   PMID:33545068   PMID:33961781   PMID:34554397  
PMID:34597346   PMID:34709727   PMID:35271311   PMID:35384245   PMID:35420740   PMID:35446349   PMID:35563538   PMID:35696571   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168  


Genomics

Comparative Map Data
HEXB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38574,640,023 - 74,721,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl574,640,023 - 74,722,647 (+)EnsemblGRCh38hg38GRCh38
GRCh37573,935,848 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36574,016,767 - 74,052,869 (+)NCBINCBI36Build 36hg18NCBI36
Build 34574,016,766 - 74,052,869NCBI
Celera569,875,759 - 69,911,869 (+)NCBICelera
Cytogenetic Map5q13.3NCBI
HuRef569,185,979 - 69,222,054 (+)NCBIHuRef
CHM1_1573,413,670 - 73,449,974 (+)NCBICHM1_1
T2T-CHM13v2.0575,120,988 - 75,202,190 (+)NCBIT2T-CHM13v2.0
Hexb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391397,312,839 - 97,334,865 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1397,312,839 - 97,334,865 (-)EnsemblGRCm39 Ensembl
GRCm381397,176,331 - 97,198,357 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1397,176,331 - 97,198,357 (-)EnsemblGRCm38mm10GRCm38
MGSCv371397,946,286 - 97,968,312 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361398,277,106 - 98,298,969 (-)NCBIMGSCv36mm8
Celera13100,809,364 - 100,830,755 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1350.66NCBI
Hexb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8230,218,608 - 30,238,771 (-)NCBIGRCr8
mRatBN7.2228,483,997 - 28,504,165 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl228,484,012 - 28,504,223 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx235,537,922 - 35,558,126 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0233,632,260 - 33,652,462 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0228,445,997 - 28,466,169 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0227,983,925 - 28,003,260 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl227,984,117 - 28,003,186 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0247,094,814 - 47,114,992 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4227,649,188 - 27,672,231 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1227,569,557 - 27,592,600 (-)NCBI
Celera224,525,921 - 24,545,955 (-)NCBICelera
Cytogenetic Map2q12NCBI
Hexb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542525,942,278 - 25,961,312 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542525,942,341 - 25,961,312 (-)NCBIChiLan1.0ChiLan1.0
HEXB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2440,590,788 - 40,626,533 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1538,744,423 - 38,780,168 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0540,589,448 - 40,625,176 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1541,199,681 - 41,232,693 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl541,199,681 - 41,232,693 (-)Ensemblpanpan1.1panPan2
HEXB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1257,221,809 - 57,248,432 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl257,222,186 - 57,248,417 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha254,199,623 - 54,228,736 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0257,746,022 - 57,775,171 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl257,745,874 - 57,775,170 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1254,810,104 - 54,839,238 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0255,573,246 - 55,602,349 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0256,470,393 - 56,499,556 (+)NCBIUU_Cfam_GSD_1.0
Hexb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213188,915,295 - 188,940,491 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365491,917,327 - 1,943,691 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365491,918,482 - 1,943,665 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEXB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl283,744,627 - 83,784,759 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1283,745,263 - 83,784,762 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2285,331,866 - 85,371,568 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEXB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1469,037,532 - 69,065,925 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl469,037,583 - 69,065,814 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604917,815,486 - 17,843,814 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hexb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624924195,175 - 219,278 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624924195,406 - 219,232 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HEXB
487 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_009770.3:g.48585_63669del deletion Sandhoff disease [RCV000004077] Chr5:5q13 pathogenic
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) single nucleotide variant HEXB POLYMORPHISM [RCV000004078]|Sandhoff disease [RCV000336190]|not provided [RCV000675618]|not specified [RCV000079063] Chr5:74689390 [GRCh38]
Chr5:73985215 [GRCh37]
Chr5:5q13.3
benign|likely benign
HEXB, 24-BP INS insertion Sandhoff disease, juvenile form [RCV000004079] Chr5:5q13 pathogenic
HEXB, 18-BP INS insertion Hexosaminidase B (paris) [RCV000004080] Chr5:5q13 pathogenic
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) single nucleotide variant Sandhoff disease [RCV000675054]|Sandhoff disease, juvenile form [RCV000004081]|not specified [RCV001553740] Chr5:74718921 [GRCh38]
Chr5:74014746 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) single nucleotide variant HEXB-related condition [RCV003407272]|Sandhoff disease [RCV000174009]|Sandhoff disease, adult form [RCV000004084]|Sandhoff disease, juvenile form [RCV000004082]|See cases [RCV002251870]|not provided [RCV000079058] Chr5:74718804 [GRCh38]
Chr5:74014629 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) single nucleotide variant Sandhoff disease [RCV000669552]|Sandhoff disease, adult form [RCV000004083] Chr5:74720648 [GRCh38]
Chr5:74016473 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) single nucleotide variant HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM [RCV000004085]|Sandhoff disease [RCV000987527]|not provided [RCV000079061] Chr5:74721131 [GRCh38]
Chr5:74016956 [GRCh37]
Chr5:5q13.3
benign|likely benign|other|not provided
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) single nucleotide variant Sandhoff disease [RCV000869482]|Sandhoff disease, infantile form [RCV000004086] Chr5:74685445 [GRCh38]
Chr5:73981270 [GRCh37]
Chr5:5q13.3
pathogenic|benign
NC_000005.10:g.(?_74640023)_(74705321_74713505)del deletion Sandhoff disease, infantile form [RCV000004087] Chr5:74640023..74705321 [GRCh38]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) single nucleotide variant Sandhoff disease [RCV001238377]|Sandhoff disease, chronic [RCV000004088] Chr5:74720644 [GRCh38]
Chr5:74016469 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1082+5G>C single nucleotide variant Sandhoff disease, infantile form [RCV000004089] Chr5:74715695 [GRCh38]
Chr5:74011520 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.76del (p.Met26fs) deletion Sandhoff disease [RCV002512733]|Sandhoff disease, infantile form [RCV000004090] Chr5:74685336 [GRCh38]
Chr5:73981161 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) single nucleotide variant Sandhoff disease [RCV000184012]|Sandhoff disease, infantile form [RCV000004091]|not provided [RCV000579011] Chr5:74713584 [GRCh38]
Chr5:74009409 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4:c.965del deletion Sandhoff disease, infantile [RCV000004092] Chr5:5q13 pathogenic
NM_000521.4(HEXB):c.1086A>G (p.Glu362=) single nucleotide variant Sandhoff disease [RCV001494979] Chr5:74716590 [GRCh38]
Chr5:74012415 [GRCh37]
Chr5:5q13.3
likely benign
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
NM_000521.4(HEXB):c.115del (p.Val39fs) deletion Sandhoff disease [RCV001004173]|not provided [RCV000173146] Chr5:74685374 [GRCh38]
Chr5:73981199 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1169+3_1169+10del deletion Sandhoff disease [RCV001028022]|not provided [RCV000079055] Chr5:74716675..74716682 [GRCh38]
Chr5:74012500..74012507 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1239_1243del (p.Lys414fs) deletion not provided [RCV000173703] Chr5:74718355..74718359 [GRCh38]
Chr5:74014180..74014184 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1243-2A>G single nucleotide variant Sandhoff disease [RCV000174010]|not provided [RCV000079057] Chr5:74718795 [GRCh38]
Chr5:74014620 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr) single nucleotide variant not provided [RCV000174011] Chr5:74718929 [GRCh38]
Chr5:74014754 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-14C>A single nucleotide variant Sandhoff disease [RCV000673104]|not provided [RCV001310507]|not specified [RCV000079060] Chr5:74721104 [GRCh38]
Chr5:74016929 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) single nucleotide variant Sandhoff disease [RCV001854394]|not provided [RCV000079062] Chr5:74721149 [GRCh38]
Chr5:74016974 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.587A>C (p.Asp196Ala) single nucleotide variant not provided [RCV000079064] Chr5:74697024 [GRCh38]
Chr5:73992849 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) single nucleotide variant HEXB POLYMORPHISM [RCV000235014]|Sandhoff disease [RCV000403428]|not provided [RCV000675619]|not specified [RCV000079065] Chr5:74697056 [GRCh38]
Chr5:73992881 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000521.4(HEXB):c.772-4A>G single nucleotide variant Sandhoff disease [RCV000351167]|not provided [RCV000590368]|not specified [RCV000079066] Chr5:74713502 [GRCh38]
Chr5:74009327 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys) single nucleotide variant not provided [RCV000179766] Chr5:74713531 [GRCh38]
Chr5:74009356 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.895G>A (p.Gly299Arg) single nucleotide variant not provided [RCV000079068] Chr5:74713629 [GRCh38]
Chr5:74009454 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.3(HEXB):c.902-50delT deletion AllHighlyPenetrant [RCV000079069]|not specified [RCV000079069] Chr5:74715460 [GRCh38]
Chr5:74011285 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) single nucleotide variant Sandhoff disease [RCV000397650]|not provided [RCV001705832]|not specified [RCV000117218] Chr5:74715659 [GRCh38]
Chr5:74011484 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) single nucleotide variant Sandhoff disease [RCV001082206]|not provided [RCV000224126]|not specified [RCV000117219] Chr5:74685474 [GRCh38]
Chr5:73981299 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) single nucleotide variant Sandhoff disease [RCV001323093]|not provided [RCV000174253] Chr5:74720488 [GRCh38]
Chr5:74016313 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) duplication not provided [RCV000174487] Chr5:74720648..74720649 [GRCh38]
Chr5:74016473..74016474 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) microsatellite Sandhoff disease [RCV000174488]|not provided [RCV000724463] Chr5:74720665..74720666 [GRCh38]
Chr5:74016490..74016491 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000521.3(HEXB):c.1616_1617insTTCATGTTATCTACAGAC (p.Arg539_Gly540insSerCysTyrLeuGlnThr) insertion not provided [RCV000174689] Chr5:74721120..74721121 [GRCh38]
Chr5:74016945..74016946 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3 copy number gain See cases [RCV000141307] Chr5:74715712..74767984 [GRCh38]
Chr5:74011537..74063809 [GRCh37]
Chr5:74047293..74099565 [NCBI36]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) single nucleotide variant Sandhoff disease [RCV000987526]|not specified [RCV000153357] Chr5:74685445 [GRCh38]
Chr5:73981270 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) single nucleotide variant Sandhoff disease [RCV001270125]|not provided [RCV000175617] Chr5:74689339 [GRCh38]
Chr5:73985164 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.771+5G>C single nucleotide variant Sandhoff disease [RCV001329340]|not provided [RCV000179319] Chr5:74705325 [GRCh38]
Chr5:74001150 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1601G>T (p.Cys534Phe) single nucleotide variant not provided [RCV000153359] Chr5:74720735 [GRCh38]
Chr5:74016560 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) single nucleotide variant Sandhoff disease [RCV000674784]|not provided [RCV000153360] Chr5:74721156 [GRCh38]
Chr5:74016981 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001292004.1(HEXB):c.-377+8338A>G single nucleotide variant Lung cancer [RCV000096167] Chr5:74648896 [GRCh38]
Chr5:73944721 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) single nucleotide variant Inborn genetic diseases [RCV002517081]|Sandhoff disease [RCV000671169]|not provided [RCV003480547]|not specified [RCV000194629] Chr5:74685387 [GRCh38]
Chr5:73981212 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.298del (p.Arg100fs) deletion Sandhoff disease [RCV000668469]|not provided [RCV000255439] Chr5:74685558 [GRCh38]
Chr5:73981383 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1418-12_1418del deletion Sandhoff disease [RCV000669423] Chr5:74720415..74720427 [GRCh38]
Chr5:74016240..74016252 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) single nucleotide variant Sandhoff disease [RCV001085568]|not provided [RCV000224288]|not specified [RCV000246282] Chr5:74693642 [GRCh38]
Chr5:73989467 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) microsatellite Sandhoff disease [RCV000669540] Chr5:74720691..74720692 [GRCh38]
Chr5:74016516..74016517 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.558+5G>A single nucleotide variant Sandhoff disease [RCV000669675] Chr5:74696744 [GRCh38]
Chr5:73992569 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.118del (p.Ala40fs) deletion Sandhoff disease [RCV000669727] Chr5:74685377 [GRCh38]
Chr5:73981202 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.300-32C>T single nucleotide variant Sandhoff disease [RCV001543963]|not provided [RCV001651131]|not specified [RCV000248560] Chr5:74689296 [GRCh38]
Chr5:73985121 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.902-48del deletion not provided [RCV001668440]|not specified [RCV000250878] Chr5:74715460 [GRCh38]
Chr5:74011285 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) single nucleotide variant Sandhoff disease [RCV000286253]|not provided [RCV000723437] Chr5:74693701 [GRCh38]
Chr5:73989526 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.300-46T>A single nucleotide variant not provided [RCV001640483]|not specified [RCV000251490] Chr5:74689282 [GRCh38]
Chr5:73985107 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1082+26T>A single nucleotide variant not provided [RCV001711657]|not specified [RCV000247070] Chr5:74715716 [GRCh38]
Chr5:74011541 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) single nucleotide variant Sandhoff disease [RCV000268566]|not provided [RCV000514555]|not specified [RCV000252021] Chr5:74718812 [GRCh38]
Chr5:74014637 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.558+45G>A single nucleotide variant Sandhoff disease [RCV001543965]|not provided [RCV001682982]|not specified [RCV000249577] Chr5:74696784 [GRCh38]
Chr5:73992609 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.445+1G>C single nucleotide variant Sandhoff disease [RCV000709991] Chr5:74689474 [GRCh38]
Chr5:73985299 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|benign
NM_000521.4(HEXB):c.446-13A>G single nucleotide variant not specified [RCV000253018] Chr5:74693626 [GRCh38]
Chr5:73989451 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) single nucleotide variant Sandhoff disease [RCV000397655] Chr5:74713576 [GRCh38]
Chr5:74009401 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) single nucleotide variant Sandhoff disease [RCV000363000] Chr5:74718802 [GRCh38]
Chr5:74014627 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1082+5G>A single nucleotide variant Sandhoff disease [RCV000308357] Chr5:74715695 [GRCh38]
Chr5:74011520 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.*105T>C single nucleotide variant Sandhoff disease [RCV000278139] Chr5:74721280 [GRCh38]
Chr5:74017105 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) single nucleotide variant Inborn genetic diseases [RCV002520382]|Sandhoff disease [RCV000359685] Chr5:74720746 [GRCh38]
Chr5:74016571 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) single nucleotide variant Sandhoff disease [RCV000366647] Chr5:74715643 [GRCh38]
Chr5:74011468 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.918G>C (p.Leu306=) single nucleotide variant Sandhoff disease [RCV000311611] Chr5:74715526 [GRCh38]
Chr5:74011351 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.*40A>C single nucleotide variant Sandhoff disease [RCV000317974] Chr5:74721215 [GRCh38]
Chr5:74017040 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) single nucleotide variant Sandhoff disease [RCV000666419]|not provided [RCV000372047] Chr5:74696733 [GRCh38]
Chr5:73992558 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.*82_*83del deletion Sandhoff disease [RCV000372579]|not provided [RCV001712155] Chr5:74721256..74721257 [GRCh38]
Chr5:74017081..74017082 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) single nucleotide variant Sandhoff disease [RCV000281221] Chr5:74685338 [GRCh38]
Chr5:73981163 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) single nucleotide variant Sandhoff disease [RCV000784909]|not provided [RCV000312602] Chr5:74713567 [GRCh38]
Chr5:74009392 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1613+14del deletion Sandhoff disease [RCV000265045]|not specified [RCV001553738] Chr5:74720760 [GRCh38]
Chr5:74016585 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) deletion Sandhoff disease [RCV000390326]|not provided [RCV000723406] Chr5:74715629..74715632 [GRCh38]
Chr5:74011454..74011457 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) single nucleotide variant Sandhoff disease [RCV001279184] Chr5:74715653 [GRCh38]
Chr5:74011478 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.-126C>T single nucleotide variant Sandhoff disease [RCV000343015]|not provided [RCV000841649] Chr5:74685135 [GRCh38]
Chr5:73980960 [GRCh37]
Chr5:5q13.3
benign
NM_000521.3(HEXB):c.-52C>A single nucleotide variant Sandhoff disease [RCV000320555] Chr5:74685209 [GRCh38]
Chr5:73981034 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.670-14_670-13del microsatellite Sandhoff disease [RCV000296290] Chr5:74705203..74705204 [GRCh38]
Chr5:74001028..74001029 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.-122del deletion Sandhoff disease [RCV000406221]|not provided [RCV001662363] Chr5:74685139 [GRCh38]
Chr5:73980964 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.-14G>A single nucleotide variant Sandhoff disease [RCV000375729] Chr5:74685247 [GRCh38]
Chr5:73981072 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.978G>C (p.Leu326=) single nucleotide variant Sandhoff disease [RCV000896988]|not specified [RCV000587177] Chr5:74715586 [GRCh38]
Chr5:74011411 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.274_277dup (p.Leu93fs) duplication not provided [RCV000414696] Chr5:74685532..74685533 [GRCh38]
Chr5:73981357..73981358 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.838T>A (p.Leu280Ile) single nucleotide variant not specified [RCV000414653] Chr5:74713572 [GRCh38]
Chr5:74009397 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) single nucleotide variant Sandhoff disease [RCV000415095] Chr5:74685532 [GRCh38]
Chr5:73981357 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) single nucleotide variant Sandhoff disease [RCV000984275]|not provided [RCV000414444] Chr5:74718971 [GRCh38]
Chr5:74014796 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro) single nucleotide variant Sandhoff disease [RCV000449491] Chr5:74685559 [GRCh38]
Chr5:73981384 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.3(chr5:73979022-73993252)x1 copy number loss See cases [RCV000447398] Chr5:73979022..73993252 [GRCh37]
Chr5:5q13.3
conflicting data from submitters
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) single nucleotide variant Sandhoff disease [RCV000669074]|not provided [RCV000427051] Chr5:74713530 [GRCh38]
Chr5:74009355 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) single nucleotide variant Sandhoff disease [RCV002525932]|not provided [RCV000482174] Chr5:74721134 [GRCh38]
Chr5:74016959 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) single nucleotide variant Sandhoff disease [RCV000502357] Chr5:74720731 [GRCh38]
Chr5:74016556 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) single nucleotide variant Sandhoff disease [RCV000500181] Chr5:74713512 [GRCh38]
Chr5:74009337 [GRCh37]
Chr5:5q13.3
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) single nucleotide variant Sandhoff disease [RCV000491131] Chr5:74685430 [GRCh38]
Chr5:73981255 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.10:g.(?_74685241)_(74697126_?)del deletion Sandhoff disease [RCV000633009] Chr5:74685241..74697126 [GRCh38]
Chr5:73981066..73992951 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.902-1G>T single nucleotide variant Sandhoff disease [RCV000672264] Chr5:74715509 [GRCh38]
Chr5:74011334 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-16_1615dup duplication Hexosaminidase B (paris) [RCV002286414]|Sandhoff disease [RCV000674261]|not provided [RCV000596163] Chr5:74721101..74721102 [GRCh38]
Chr5:74016926..74016927 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) deletion Sandhoff disease [RCV000671971] Chr5:74685316..74685327 [GRCh38]
Chr5:73981141..73981152 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) single nucleotide variant Sandhoff disease [RCV000612023]|not provided [RCV001573050]|not specified [RCV001797763] Chr5:74705264 [GRCh38]
Chr5:74001089 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) single nucleotide variant Sandhoff disease [RCV000633007] Chr5:74693693 [GRCh38]
Chr5:73989518 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1509-26G>A single nucleotide variant Inborn genetic diseases [RCV002529814]|Sandhoff disease [RCV000633008]|Sandhoff disease, juvenile form [RCV002286417]|not provided [RCV003153772] Chr5:74720617 [GRCh38]
Chr5:74016442 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) single nucleotide variant Sandhoff disease [RCV000664782] Chr5:74721119 [GRCh38]
Chr5:74016944 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1417+5G>A single nucleotide variant Sandhoff disease [RCV000673197]|not provided [RCV001310506] Chr5:74718976 [GRCh38]
Chr5:74014801 [GRCh37]
Chr5:5q13.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.299+1G>A single nucleotide variant Sandhoff disease [RCV000664552] Chr5:74685560 [GRCh38]
Chr5:73981385 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.230_232del (p.Phe77del) deletion Sandhoff disease [RCV000670595] Chr5:74685488..74685490 [GRCh38]
Chr5:73981313..73981315 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.512-3C>A single nucleotide variant Sandhoff disease [RCV000671236] Chr5:74696690 [GRCh38]
Chr5:73992515 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.825del (p.Ile275fs) deletion Sandhoff disease [RCV000670270] Chr5:74713558 [GRCh38]
Chr5:74009383 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) microsatellite Sandhoff disease [RCV000669759] Chr5:74718857..74718858 [GRCh38]
Chr5:74014682..74014683 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1611_1613+2del deletion Sandhoff disease [RCV000665204] Chr5:74720743..74720747 [GRCh38]
Chr5:74016568..74016572 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) single nucleotide variant Sandhoff disease [RCV000673828] Chr5:74718943 [GRCh38]
Chr5:74014768 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) microsatellite Inborn genetic diseases [RCV002531197]|Sandhoff disease [RCV000668414] Chr5:74720433..74720438 [GRCh38]
Chr5:74016258..74016263 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) single nucleotide variant Sandhoff disease [RCV000671547] Chr5:74685406 [GRCh38]
Chr5:73981231 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) deletion Sandhoff disease [RCV000674477] Chr5:74685317..74685331 [GRCh38]
Chr5:73981142..73981156 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.56del (p.Leu19fs) deletion Sandhoff disease [RCV000674483] Chr5:74685315 [GRCh38]
Chr5:73981140 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.*4dup (p.Ter557=) duplication Sandhoff disease [RCV000667019] Chr5:74721173..74721174 [GRCh38]
Chr5:74016998..74016999 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.512-1G>T single nucleotide variant Sandhoff disease [RCV000673291] Chr5:74696692 [GRCh38]
Chr5:73992517 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) deletion Sandhoff disease [RCV000664678] Chr5:74685340..74685357 [GRCh38]
Chr5:73981165..73981182 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.965del (p.Ile322fs) deletion Sandhoff disease [RCV000673580]|Sandhoff disease, infantile form [RCV000004092] Chr5:74715573 [GRCh38]
Chr5:74011398 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1614-25_1614-7dup duplication Sandhoff disease [RCV000669973] Chr5:74721092..74721093 [GRCh38]
Chr5:74016917..74016918 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) single nucleotide variant Sandhoff disease [RCV000670728] Chr5:74693641 [GRCh38]
Chr5:73989466 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1613+15_1613+18dup duplication Sandhoff disease [RCV000671283] Chr5:74720760..74720761 [GRCh38]
Chr5:74016585..74016586 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.171del (p.Trp57fs) deletion Sandhoff disease [RCV000673881] Chr5:74685430 [GRCh38]
Chr5:73981255 [GRCh37]
Chr5:5q13.3
pathogenic
NM_032380.5(GFM2):c.2239dup (p.Thr747fs) duplication Sandhoff disease [RCV000673981] Chr5:74721755..74721756 [GRCh38]
Chr5:74017580..74017581 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) single nucleotide variant Sandhoff disease [RCV000674196] Chr5:74689361 [GRCh38]
Chr5:73985186 [GRCh37]
Chr5:5q13.3
pathogenic
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter) single nucleotide variant Sandhoff disease [RCV000671110] Chr5:74721765 [GRCh38]
Chr5:74017590 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.133del (p.Ala45fs) deletion Sandhoff disease [RCV000667714] Chr5:74685391 [GRCh38]
Chr5:73981216 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-8_1614-6dup duplication Sandhoff disease [RCV000672849] Chr5:74721109..74721110 [GRCh38]
Chr5:74016934..74016935 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter) single nucleotide variant Sandhoff disease [RCV000664438] Chr5:74721699 [GRCh38]
Chr5:74017524 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) deletion Sandhoff disease [RCV000671549] Chr5:74721130..74721141 [GRCh38]
Chr5:74016955..74016966 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.300-1G>A single nucleotide variant Sandhoff disease [RCV000668508] Chr5:74689327 [GRCh38]
Chr5:73985152 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) deletion Sandhoff disease [RCV000667162] Chr5:74689367..74689375 [GRCh38]
Chr5:73985192..73985200 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) duplication Sandhoff disease [RCV000674128] Chr5:74720708..74720709 [GRCh38]
Chr5:74016533..74016534 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) deletion Sandhoff disease [RCV000665099] Chr5:74689369..74689371 [GRCh38]
Chr5:73985194..73985196 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) single nucleotide variant Sandhoff disease [RCV000674299] Chr5:74718363 [GRCh38]
Chr5:74014188 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) deletion Sandhoff disease [RCV000674425] Chr5:74685324..74685344 [GRCh38]
Chr5:73981149..73981169 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) deletion Sandhoff disease [RCV000666620] Chr5:74685328..74685339 [GRCh38]
Chr5:73981153..73981164 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1520del (p.Ser507fs) deletion Sandhoff disease [RCV000667704] Chr5:74720654 [GRCh38]
Chr5:74016479 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-16_1622dup duplication Sandhoff disease [RCV000685380]|not provided [RCV001756151] Chr5:74721101..74721102 [GRCh38]
Chr5:74016926..74016927 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) single nucleotide variant Sandhoff disease [RCV000691227] Chr5:74685420 [GRCh38]
Chr5:73981245 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) single nucleotide variant Sandhoff disease [RCV000688835] Chr5:74715594 [GRCh38]
Chr5:74011419 [GRCh37]
Chr5:5q13.3
uncertain significance
NC_000005.10:g.(?_74685261)_(74697106_?)del deletion Sandhoff disease [RCV000707942] Chr5:74685261..74697106 [GRCh38]
Chr5:73981086..73992931 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q13.3(chr5:73980065-73993871)x1 copy number loss not provided [RCV000744855] Chr5:73980065..73993871 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1082+301T>G single nucleotide variant not provided [RCV001679024] Chr5:74715991 [GRCh38]
Chr5:74011816 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.300-240A>G single nucleotide variant not provided [RCV001612627] Chr5:74689088 [GRCh38]
Chr5:73984913 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1082+7T>A single nucleotide variant Sandhoff disease [RCV001462715] Chr5:74715697 [GRCh38]
Chr5:74011522 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.772-310G>A single nucleotide variant not provided [RCV001648055] Chr5:74713196 [GRCh38]
Chr5:74009021 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) single nucleotide variant Sandhoff disease [RCV000761439]|not provided [RCV001562408] Chr5:74713575 [GRCh38]
Chr5:74009400 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) single nucleotide variant Sandhoff disease [RCV000761558] Chr5:74685558 [GRCh38]
Chr5:73981383 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.512-112T>G single nucleotide variant Sandhoff disease [RCV001543964]|not provided [RCV001685483] Chr5:74696581 [GRCh38]
Chr5:73992406 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1082+26del deletion not provided [RCV001547409] Chr5:74715714 [GRCh38]
Chr5:74011539 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.42G>A (p.Leu14=) single nucleotide variant Sandhoff disease [RCV000975338] Chr5:74685302 [GRCh38]
Chr5:73981127 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1269A>G (p.Val423=) single nucleotide variant Sandhoff disease [RCV000971880] Chr5:74718823 [GRCh38]
Chr5:74014648 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1418-5T>C single nucleotide variant Sandhoff disease [RCV000928841] Chr5:74720423 [GRCh38]
Chr5:74016248 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1029G>A (p.Val343=) single nucleotide variant Sandhoff disease [RCV001461343] Chr5:74715637 [GRCh38]
Chr5:74011462 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro) single nucleotide variant Sandhoff disease [RCV001048153]|not provided [RCV001759974] Chr5:74721141 [GRCh38]
Chr5:74016966 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) single nucleotide variant Sandhoff disease, adult form [RCV001804177] Chr5:74720491 [GRCh38]
Chr5:74016316 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) deletion Sandhoff disease [RCV001067035] Chr5:74685324..74685325 [GRCh38]
Chr5:73981149..73981150 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1082+2T>C single nucleotide variant Sandhoff disease [RCV001038156] Chr5:74715692 [GRCh38]
Chr5:74011517 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) single nucleotide variant Sandhoff disease [RCV001271416]|not specified [RCV000781465] Chr5:74693702 [GRCh38]
Chr5:73989527 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.445+1G>A single nucleotide variant Sandhoff disease [RCV000781464] Chr5:74689474 [GRCh38]
Chr5:73985299 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.3:c.-2059_669+1737del deletion Sandhoff disease [RCV000781940] Chr5:5q13.3 pathogenic
NM_000521.4(HEXB):c.16C>T (p.Leu6=) single nucleotide variant Sandhoff disease [RCV001475160] Chr5:74685276 [GRCh38]
Chr5:73981101 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.150C>T (p.Ala50=) single nucleotide variant Sandhoff disease [RCV001274211] Chr5:74685410 [GRCh38]
Chr5:73981235 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.69G>A (p.Leu23=) single nucleotide variant Sandhoff disease [RCV001437280]|not provided [RCV003424483] Chr5:74685329 [GRCh38]
Chr5:73981154 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1243-6T>C single nucleotide variant Sandhoff disease [RCV000872703]|not specified [RCV001175477] Chr5:74718791 [GRCh38]
Chr5:74014616 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) single nucleotide variant Sandhoff disease [RCV000919377] Chr5:74720706 [GRCh38]
Chr5:74016531 [GRCh37]
Chr5:5q13.3
likely benign
NC_000005.10:g.74685135C>T single nucleotide variant not provided [RCV000841649] Chr5:73980960 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.445+236T>C single nucleotide variant not provided [RCV000841650] Chr5:74689709 [GRCh38]
Chr5:73985534 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1614-4A>G single nucleotide variant Sandhoff disease [RCV000937001] Chr5:74721114 [GRCh38]
Chr5:74016939 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) single nucleotide variant Sandhoff disease [RCV000796892] Chr5:74689438 [GRCh38]
Chr5:73985263 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) single nucleotide variant Sandhoff disease [RCV000823115] Chr5:74713573 [GRCh38]
Chr5:74009398 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) duplication Sandhoff disease [RCV000823847] Chr5:74715613..74715614 [GRCh38]
Chr5:74011438..74011439 [GRCh37]
Chr5:5q13.3
pathogenic
NM_001292004.2(HEXB):c.-376-4450A>T single nucleotide variant not provided [RCV000840394] Chr5:74684878 [GRCh38]
Chr5:73980703 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.171_176delinsCCCCC (p.Trp57fs) indel Sandhoff disease [RCV000815579] Chr5:74685431..74685436 [GRCh38]
Chr5:73981256..73981261 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) single nucleotide variant Sandhoff disease [RCV000790389] Chr5:74720458 [GRCh38]
Chr5:74016283 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 copy number loss not provided [RCV000846928] Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_000521.4(HEXB):c.1083-14A>C single nucleotide variant Sandhoff disease [RCV001151447] Chr5:74716573 [GRCh38]
Chr5:74012398 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 copy number loss not provided [RCV000846158] Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) single nucleotide variant Sandhoff disease [RCV000872361]|not provided [RCV003457882] Chr5:74689411 [GRCh38]
Chr5:73985236 [GRCh37]
Chr5:5q13.3
likely benign
NM_001292004.2(HEXB):c.-376-4449T>G single nucleotide variant not provided [RCV000840396] Chr5:74684879 [GRCh38]
Chr5:73980704 [GRCh37]
Chr5:5q13.3
benign
NM_001292004.2(HEXB):c.-376-4354G>C single nucleotide variant not provided [RCV000840397] Chr5:74684974 [GRCh38]
Chr5:73980799 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.299+278G>A single nucleotide variant not provided [RCV000840399] Chr5:74685837 [GRCh38]
Chr5:73981662 [GRCh37]
Chr5:5q13.3
benign
NC_000005.10:g.(?_74685251)_(74697116_?)del deletion Sandhoff disease [RCV000798158] Chr5:74685251..74697116 [GRCh38]
Chr5:73981076..73992941 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.672T>C (p.Asp224=) single nucleotide variant Sandhoff disease [RCV001274212] Chr5:74705221 [GRCh38]
Chr5:74001046 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.1417+229T>C single nucleotide variant not provided [RCV000829704] Chr5:74719200 [GRCh38]
Chr5:74015025 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) single nucleotide variant Sandhoff disease [RCV000801007] Chr5:74721129 [GRCh38]
Chr5:74016954 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1345del (p.Trp449fs) deletion Sandhoff disease [RCV001194423] Chr5:74718898 [GRCh38]
Chr5:74014723 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) single nucleotide variant Sandhoff disease [RCV001154476]|not provided [RCV000998400] Chr5:74721171 [GRCh38]
Chr5:74016996 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q13.3(chr5:73974274-74011878)x1 copy number loss not provided [RCV000847623] Chr5:73974274..74011878 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg) single nucleotide variant Sandhoff disease [RCV001175296] Chr5:74720723 [GRCh38]
Chr5:74016548 [GRCh37]
Chr5:5q13.3
likely benign|not provided
NM_000521.4(HEXB):c.283del (p.Glu95fs) deletion Sandhoff disease [RCV001240185] Chr5:74685542 [GRCh38]
Chr5:73981367 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) single nucleotide variant Sandhoff disease [RCV001242017] Chr5:74685319 [GRCh38]
Chr5:73981144 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) single nucleotide variant Sandhoff disease [RCV001239378] Chr5:74713612 [GRCh38]
Chr5:74009437 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.3(HEXB):c.773del deletion Sandhoff disease [RCV001239339] Chr5:74713505 [GRCh38]
Chr5:74009330 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 copy number loss not provided [RCV000847565] Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) single nucleotide variant Sandhoff disease [RCV000993713] Chr5:74705310 [GRCh38]
Chr5:74001135 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) single nucleotide variant Sandhoff disease [RCV001246112] Chr5:74689359 [GRCh38]
Chr5:73985184 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.156G>A (p.Pro52=) single nucleotide variant Sandhoff disease [RCV001155218] Chr5:74685416 [GRCh38]
Chr5:73981241 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1082+13C>T single nucleotide variant Sandhoff disease [RCV001151446] Chr5:74715703 [GRCh38]
Chr5:74011528 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.772-39C>T single nucleotide variant not provided [RCV001638601] Chr5:74713467 [GRCh38]
Chr5:74009292 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.-175G>A single nucleotide variant Sandhoff disease [RCV001832856]|not provided [RCV001679565] Chr5:74685086 [GRCh38]
Chr5:73980911 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1169+242C>T single nucleotide variant not provided [RCV001556573] Chr5:74716915 [GRCh38]
Chr5:74012740 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.446-167C>T single nucleotide variant not provided [RCV001639735] Chr5:74693472 [GRCh38]
Chr5:73989297 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.669+281C>T single nucleotide variant not provided [RCV001562558] Chr5:74697387 [GRCh38]
Chr5:73993212 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr) single nucleotide variant Sandhoff disease [RCV002001616] Chr5:74697021 [GRCh38]
Chr5:73992846 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.670-274A>T single nucleotide variant not provided [RCV001696732] Chr5:74704945 [GRCh38]
Chr5:74000770 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1169+89T>A single nucleotide variant not provided [RCV001558578] Chr5:74716762 [GRCh38]
Chr5:74012587 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.512-119A>G single nucleotide variant not provided [RCV001590806] Chr5:74696574 [GRCh38]
Chr5:73992399 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.806del (p.Asn269fs) deletion Sandhoff disease [RCV001580726] Chr5:74713538 [GRCh38]
Chr5:74009363 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.670-107del deletion not provided [RCV001614627] Chr5:74705092 [GRCh38]
Chr5:74000917 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.276C>T (p.Thr92=) single nucleotide variant Sandhoff disease [RCV000873106]|not provided [RCV001585840] Chr5:74685536 [GRCh38]
Chr5:73981361 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.1149A>G (p.Leu383=) single nucleotide variant Sandhoff disease [RCV000979818] Chr5:74716653 [GRCh38]
Chr5:74012478 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-10T>C single nucleotide variant Sandhoff disease [RCV001427059] Chr5:74721108 [GRCh38]
Chr5:74016933 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.771+9A>G single nucleotide variant Sandhoff disease [RCV001490132] Chr5:74705329 [GRCh38]
Chr5:74001154 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1374A>G (p.Gln458=) single nucleotide variant Sandhoff disease [RCV000933373] Chr5:74718928 [GRCh38]
Chr5:74014753 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) single nucleotide variant Sandhoff disease [RCV001221870] Chr5:74715648 [GRCh38]
Chr5:74011473 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) indel Sandhoff disease [RCV001244478] Chr5:74720484..74720487 [GRCh38]
Chr5:74016309..74016312 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) duplication Sandhoff disease [RCV001056488]|not provided [RCV001732027] Chr5:74718846..74718847 [GRCh38]
Chr5:74014671..74014672 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) deletion Sandhoff disease [RCV001224279] Chr5:74697005..74697008 [GRCh38]
Chr5:73992830..73992833 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) single nucleotide variant Sandhoff disease [RCV000985063] Chr5:74685354 [GRCh38]
Chr5:73981179 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.670-108_670-107del deletion not provided [RCV001563499] Chr5:74705092..74705093 [GRCh38]
Chr5:74000917..74000918 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met) single nucleotide variant Sandhoff disease [RCV001563768] Chr5:74718886 [GRCh38]
Chr5:74014711 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3 copy number gain not provided [RCV001005684] Chr5:72829994..74076751 [GRCh37]
Chr5:5q13.2-13.3
uncertain significance
NM_000521.4(HEXB):c.445+59T>C single nucleotide variant not provided [RCV001688367] Chr5:74689532 [GRCh38]
Chr5:73985357 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1614-66A>C single nucleotide variant not provided [RCV001590654] Chr5:74721052 [GRCh38]
Chr5:74016877 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1242+217G>A single nucleotide variant not provided [RCV001596424] Chr5:74718580 [GRCh38]
Chr5:74014405 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1082+40dup duplication not provided [RCV001643291] Chr5:74715716..74715717 [GRCh38]
Chr5:74011541..74011542 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.772-132T>G single nucleotide variant not provided [RCV001594324] Chr5:74713374 [GRCh38]
Chr5:74009199 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.300-276_300-275insA insertion not provided [RCV001636295] Chr5:74689052..74689053 [GRCh38]
Chr5:73984877..73984878 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) microsatellite Sandhoff disease [RCV001090117] Chr5:74697089..74697091 [GRCh38]
Chr5:73992914..73992916 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.3(HEXB):c.-62G>A single nucleotide variant Sandhoff disease [RCV001155217] Chr5:74685199 [GRCh38]
Chr5:73981024 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.669G>A (p.Leu223=) single nucleotide variant Sandhoff disease [RCV001156876] Chr5:74697106 [GRCh38]
Chr5:73992931 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) single nucleotide variant Sandhoff disease [RCV001245816] Chr5:74720455 [GRCh38]
Chr5:74016280 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) single nucleotide variant Sandhoff disease [RCV001193758] Chr5:74720672 [GRCh38]
Chr5:74016497 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.3(HEXB):c.-63G>A single nucleotide variant Sandhoff disease [RCV001155216] Chr5:74685198 [GRCh38]
Chr5:73981023 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) duplication Sandhoff disease [RCV001043436] Chr5:74693642..74693643 [GRCh38]
Chr5:73989467..73989468 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.299+75C>A single nucleotide variant not provided [RCV001616861] Chr5:74685634 [GRCh38]
Chr5:73981459 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) indel Sandhoff disease [RCV001053207] Chr5:74715629..74715631 [GRCh38]
Chr5:74011454..74011456 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.445+280A>C single nucleotide variant not provided [RCV001680776] Chr5:74689753 [GRCh38]
Chr5:73985578 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.771+215A>C single nucleotide variant not provided [RCV001586181] Chr5:74705535 [GRCh38]
Chr5:74001360 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) deletion Sandhoff disease [RCV001206614] Chr5:74721146..74721161 [GRCh38]
Chr5:74016971..74016986 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.559-1G>T single nucleotide variant Sandhoff disease [RCV001234727] Chr5:74696995 [GRCh38]
Chr5:73992820 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.558+1G>C single nucleotide variant Sandhoff disease [RCV001058264] Chr5:74696740 [GRCh38]
Chr5:73992565 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) microsatellite Sandhoff disease [RCV001233820] Chr5:74718862..74718863 [GRCh38]
Chr5:74014687..74014688 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) single nucleotide variant Sandhoff disease [RCV001218156]|not specified [RCV001194422] Chr5:74718819 [GRCh38]
Chr5:74014644 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.249C>T (p.Pro83=) single nucleotide variant Sandhoff disease [RCV001505485]|not provided [RCV001171848] Chr5:74685509 [GRCh38]
Chr5:73981334 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) single nucleotide variant Sandhoff disease [RCV001062976] Chr5:74697000 [GRCh38]
Chr5:73992825 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1417+11C>T single nucleotide variant Sandhoff disease [RCV001151448] Chr5:74718982 [GRCh38]
Chr5:74014807 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) single nucleotide variant Sandhoff disease [RCV001879821]|not specified [RCV001251393] Chr5:74720647 [GRCh38]
Chr5:74016472 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.1242+3G>T single nucleotide variant Sandhoff disease [RCV001264795] Chr5:74718366 [GRCh38]
Chr5:74014191 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) single nucleotide variant Inborn genetic diseases [RCV001265747]|Sandhoff disease [RCV002541621] Chr5:74715665 [GRCh38]
Chr5:74011490 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter) single nucleotide variant Sandhoff disease [RCV001264377] Chr5:74715677 [GRCh38]
Chr5:74011502 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) single nucleotide variant Sandhoff disease [RCV001264378] Chr5:74715690 [GRCh38]
Chr5:74011515 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter) single nucleotide variant Sandhoff disease [RCV001264380] Chr5:74718841 [GRCh38]
Chr5:74014666 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) single nucleotide variant Sandhoff disease [RCV001264046] Chr5:74689360 [GRCh38]
Chr5:73985185 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) single nucleotide variant Sandhoff disease [RCV001264047] Chr5:74696710 [GRCh38]
Chr5:73992535 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter) single nucleotide variant Sandhoff disease [RCV001264048] Chr5:74697076 [GRCh38]
Chr5:73992901 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter) single nucleotide variant Sandhoff disease [RCV001264379] Chr5:74718841 [GRCh38]
Chr5:74014666 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) single nucleotide variant Sandhoff disease [RCV001830064]|not specified [RCV001264467] Chr5:74720717 [GRCh38]
Chr5:74016542 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter) single nucleotide variant Sandhoff disease [RCV001264374] Chr5:74705288 [GRCh38]
Chr5:74001113 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter) single nucleotide variant Sandhoff disease [RCV001264375] Chr5:74715632 [GRCh38]
Chr5:74011457 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter) single nucleotide variant Sandhoff disease [RCV001264376] Chr5:74715647 [GRCh38]
Chr5:74011472 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4:c.1_669del deletion Intellectual disability [RCV001263359]   likely pathogenic
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys) single nucleotide variant Sandhoff disease [RCV001318216] Chr5:74689330 [GRCh38]
Chr5:73985155 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) single nucleotide variant Sandhoff disease [RCV001319475] Chr5:74713520 [GRCh38]
Chr5:74009345 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) deletion Sandhoff disease [RCV001382863] Chr5:74713514..74713517 [GRCh38]
Chr5:74009339..74009342 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.174C>T (p.Pro58=) single nucleotide variant Sandhoff disease [RCV001412639] Chr5:74685434 [GRCh38]
Chr5:73981259 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.180G>A (p.Pro60=) single nucleotide variant Sandhoff disease [RCV001392149] Chr5:74685440 [GRCh38]
Chr5:73981265 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) single nucleotide variant Sandhoff disease [RCV001367809] Chr5:74713635 [GRCh38]
Chr5:74009460 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1243-8G>A single nucleotide variant Sandhoff disease [RCV001396758] Chr5:74718789 [GRCh38]
Chr5:74014614 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.36C>T (p.Pro12=) single nucleotide variant Sandhoff disease [RCV001422977] Chr5:74685296 [GRCh38]
Chr5:73981121 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.511+10A>C single nucleotide variant Sandhoff disease [RCV001397421] Chr5:74693714 [GRCh38]
Chr5:73989539 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-6_1628dup duplication Sandhoff disease [RCV001369836] Chr5:74721111..74721112 [GRCh38]
Chr5:74016936..74016937 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.42G>T (p.Leu14=) single nucleotide variant Sandhoff disease [RCV001392013] Chr5:74685302 [GRCh38]
Chr5:73981127 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) duplication Sandhoff disease [RCV001381997]|not provided [RCV001310505] Chr5:74716668..74716669 [GRCh38]
Chr5:74012493..74012494 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.300A>C (p.Arg100=) single nucleotide variant Sandhoff disease [RCV001371148] Chr5:74689328 [GRCh38]
Chr5:73985153 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) deletion Sandhoff disease [RCV001382579] Chr5:74715624..74715625 [GRCh38]
Chr5:74011449..74011450 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.876del (p.His294fs) deletion Sandhoff disease [RCV002545035]|not provided [RCV001310504] Chr5:74713610 [GRCh38]
Chr5:74009435 [GRCh37]
Chr5:5q13.3
pathogenic
NC_000005.9:g.(?_73981066)_(74017020_?)del deletion Sandhoff disease [RCV001382808] Chr5:73981066..74017020 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) single nucleotide variant Sandhoff disease [RCV001269215] Chr5:74705252 [GRCh38]
Chr5:74001077 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) single nucleotide variant Sandhoff disease [RCV001279185] Chr5:74721174 [GRCh38]
Chr5:74016999 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr) single nucleotide variant Sandhoff disease [RCV001290316] Chr5:74715573 [GRCh38]
Chr5:74011398 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) single nucleotide variant Sandhoff disease [RCV001307119] Chr5:74721159 [GRCh38]
Chr5:74016984 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala) single nucleotide variant Sandhoff disease [RCV001367084] Chr5:74685396 [GRCh38]
Chr5:73981221 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) single nucleotide variant Sandhoff disease [RCV001279183] Chr5:74685274 [GRCh38]
Chr5:73981099 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys) single nucleotide variant Sandhoff disease [RCV001329339] Chr5:74720676 [GRCh38]
Chr5:74016501 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1563T>C (p.Asp521=) single nucleotide variant Sandhoff disease [RCV001450943] Chr5:74720697 [GRCh38]
Chr5:74016522 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1296A>G (p.Glu432=) single nucleotide variant Sandhoff disease [RCV001461083] Chr5:74718850 [GRCh38]
Chr5:74014675 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-6T>C single nucleotide variant Sandhoff disease [RCV001485811] Chr5:74718285 [GRCh38]
Chr5:74014110 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1536A>G (p.Arg512=) single nucleotide variant Sandhoff disease [RCV001399712] Chr5:74720670 [GRCh38]
Chr5:74016495 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.838T>C (p.Leu280=) single nucleotide variant Sandhoff disease [RCV001482202] Chr5:74713572 [GRCh38]
Chr5:74009397 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-7dup duplication Sandhoff disease [RCV001488153] Chr5:74720633..74720634 [GRCh38]
Chr5:74016458..74016459 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1251G>A (p.Pro417=) single nucleotide variant Sandhoff disease [RCV001452055] Chr5:74718805 [GRCh38]
Chr5:74014630 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1362T>A (p.Ile454=) single nucleotide variant Sandhoff disease [RCV001462794] Chr5:74718916 [GRCh38]
Chr5:74014741 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1026G>A (p.Glu342=) single nucleotide variant Sandhoff disease [RCV001462903] Chr5:74715634 [GRCh38]
Chr5:74011459 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1062T>C (p.Asp354=) single nucleotide variant Sandhoff disease [RCV001474326] Chr5:74715670 [GRCh38]
Chr5:74011495 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.486C>A (p.Ala162=) single nucleotide variant Sandhoff disease [RCV001459930] Chr5:74693679 [GRCh38]
Chr5:73989504 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly) single nucleotide variant Sandhoff disease [RCV001434165] Chr5:74718833 [GRCh38]
Chr5:74014658 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1500A>G (p.Pro500=) single nucleotide variant Sandhoff disease [RCV001491651] Chr5:74720510 [GRCh38]
Chr5:74016335 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1041A>G (p.Gln347=) single nucleotide variant Sandhoff disease [RCV001453144] Chr5:74715649 [GRCh38]
Chr5:74011474 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.108G>A (p.Val36=) single nucleotide variant Sandhoff disease [RCV001504263] Chr5:74685368 [GRCh38]
Chr5:73981193 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.519G>A (p.Glu173=) single nucleotide variant Sandhoff disease [RCV001434300] Chr5:74696700 [GRCh38]
Chr5:73992525 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.924A>G (p.Pro308=) single nucleotide variant Sandhoff disease [RCV001487290] Chr5:74715532 [GRCh38]
Chr5:74011357 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1281C>T (p.Ser427=) single nucleotide variant Sandhoff disease [RCV001437771] Chr5:74718835 [GRCh38]
Chr5:74014660 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1494C>G (p.Leu498=) single nucleotide variant Sandhoff disease [RCV001463590] Chr5:74720504 [GRCh38]
Chr5:74016329 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.42G>C (p.Leu14=) single nucleotide variant Sandhoff disease [RCV001419577] Chr5:74685302 [GRCh38]
Chr5:73981127 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.670-10T>G single nucleotide variant Sandhoff disease [RCV001411862] Chr5:74705209 [GRCh38]
Chr5:74001034 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.558+7A>T single nucleotide variant Sandhoff disease [RCV001425514] Chr5:74696746 [GRCh38]
Chr5:73992571 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.216C>T (p.Leu72=) single nucleotide variant Sandhoff disease [RCV001434505] Chr5:74685476 [GRCh38]
Chr5:73981301 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1029G>C (p.Val343=) single nucleotide variant Sandhoff disease [RCV001449209] Chr5:74715637 [GRCh38]
Chr5:74011462 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.567C>A (p.Ile189=) single nucleotide variant Sandhoff disease [RCV001405212] Chr5:74697004 [GRCh38]
Chr5:73992829 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.597G>A (p.Arg199=) single nucleotide variant Sandhoff disease [RCV001444141] Chr5:74697034 [GRCh38]
Chr5:73992859 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.303T>C (p.Tyr101=) single nucleotide variant Sandhoff disease [RCV001444561] Chr5:74689331 [GRCh38]
Chr5:73985156 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.219C>G (p.Ala73=) single nucleotide variant Sandhoff disease [RCV001417490] Chr5:74685479 [GRCh38]
Chr5:73981304 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) deletion Sandhoff disease [RCV001388183] Chr5:74720717..74720720 [GRCh38]
Chr5:74016542..74016545 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) single nucleotide variant Sandhoff disease [RCV001383633] Chr5:74720712 [GRCh38]
Chr5:74016537 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.948G>A (p.Leu316=) single nucleotide variant Sandhoff disease [RCV001431619] Chr5:74715556 [GRCh38]
Chr5:74011381 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1275A>G (p.Lys425=) single nucleotide variant Sandhoff disease [RCV001437963] Chr5:74718829 [GRCh38]
Chr5:74014654 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) single nucleotide variant Sandhoff disease [RCV001381568] Chr5:74716648 [GRCh38]
Chr5:74012473 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.126G>T (p.Ala42=) single nucleotide variant Sandhoff disease [RCV001431602] Chr5:74685386 [GRCh38]
Chr5:73981211 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.633A>G (p.Arg211=) single nucleotide variant Sandhoff disease [RCV001447906] Chr5:74697070 [GRCh38]
Chr5:73992895 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.33G>T (p.Pro11=) single nucleotide variant Sandhoff disease [RCV001408893] Chr5:74685293 [GRCh38]
Chr5:73981118 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1320C>G (p.Gly440=) single nucleotide variant Sandhoff disease [RCV001411471] Chr5:74718874 [GRCh38]
Chr5:74014699 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.450T>A (p.Thr150=) single nucleotide variant Sandhoff disease [RCV001429776] Chr5:74693643 [GRCh38]
Chr5:73989468 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) deletion Sandhoff disease [RCV001382002] Chr5:74716657..74716660 [GRCh38]
Chr5:74012482..74012485 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.201G>A (p.Pro67=) single nucleotide variant Sandhoff disease [RCV001411572] Chr5:74685461 [GRCh38]
Chr5:73981286 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) deletion Sandhoff disease [RCV001387227] Chr5:74718940..74718944 [GRCh38]
Chr5:74014765..74014769 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.727T>A (p.Ser243Thr) single nucleotide variant not provided [RCV001507647] Chr5:74705276 [GRCh38]
Chr5:74001101 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.504A>C (p.Ala168=) single nucleotide variant Sandhoff disease [RCV001468579] Chr5:74693697 [GRCh38]
Chr5:73989522 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.345T>C (p.Pro115=) single nucleotide variant Sandhoff disease [RCV001493743] Chr5:74689373 [GRCh38]
Chr5:73985198 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.210G>T (p.Leu70=) single nucleotide variant Sandhoff disease [RCV001506102] Chr5:74685470 [GRCh38]
Chr5:73981295 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1243-9C>T single nucleotide variant Sandhoff disease [RCV001496555] Chr5:74718788 [GRCh38]
Chr5:74014613 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1419T>C (p.Gly473=) single nucleotide variant Sandhoff disease [RCV001476587] Chr5:74720429 [GRCh38]
Chr5:74016254 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.723C>T (p.Asp241=) single nucleotide variant Sandhoff disease [RCV001479906] Chr5:74705272 [GRCh38]
Chr5:74001097 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.972T>C (p.Pro324=) single nucleotide variant Sandhoff disease [RCV001497218] Chr5:74715580 [GRCh38]
Chr5:74011405 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.843A>G (p.Arg281=) single nucleotide variant Sandhoff disease [RCV001459721] Chr5:74713577 [GRCh38]
Chr5:74009402 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-7dup duplication Sandhoff disease [RCV001480282] Chr5:74721110..74721111 [GRCh38]
Chr5:74016935..74016936 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.855C>T (p.Val285=) single nucleotide variant Sandhoff disease [RCV001477518] Chr5:74713589 [GRCh38]
Chr5:74009414 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.300-7C>T single nucleotide variant Sandhoff disease [RCV001497440] Chr5:74689321 [GRCh38]
Chr5:73985146 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.69G>T (p.Leu23=) single nucleotide variant Sandhoff disease [RCV001463675] Chr5:74685329 [GRCh38]
Chr5:73981154 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.300-201C>A single nucleotide variant not provided [RCV001680887] Chr5:74689127 [GRCh38]
Chr5:73984952 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.670-107dup duplication not provided [RCV001687314] Chr5:74705091..74705092 [GRCh38]
Chr5:74000916..74000917 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=) single nucleotide variant Sandhoff disease [RCV001471806] Chr5:74716665 [GRCh38]
Chr5:74012490 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-8A>G single nucleotide variant Sandhoff disease [RCV001478034] Chr5:74721110 [GRCh38]
Chr5:74016935 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-4T>C single nucleotide variant Sandhoff disease [RCV001456733] Chr5:74720639 [GRCh38]
Chr5:74016464 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.445+7A>G single nucleotide variant Sandhoff disease [RCV001462501] Chr5:74689480 [GRCh38]
Chr5:73985305 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.654T>C (p.Ile218=) single nucleotide variant Sandhoff disease [RCV001465669] Chr5:74697091 [GRCh38]
Chr5:73992916 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1539C>A (p.Leu513=) single nucleotide variant Sandhoff disease [RCV001488551] Chr5:74720673 [GRCh38]
Chr5:74016498 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.276C>A (p.Thr92=) single nucleotide variant Sandhoff disease [RCV001457911]|not provided [RCV003434245] Chr5:74685536 [GRCh38]
Chr5:73981361 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) deletion Sandhoff disease [RCV001378417] Chr5:74720697..74720707 [GRCh38]
Chr5:74016522..74016532 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.126G>A (p.Ala42=) single nucleotide variant Sandhoff disease [RCV001398613] Chr5:74685386 [GRCh38]
Chr5:73981211 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1417+9A>G single nucleotide variant Sandhoff disease [RCV001398452] Chr5:74718980 [GRCh38]
Chr5:74014805 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.378A>G (p.Gln126=) single nucleotide variant Sandhoff disease [RCV001404815] Chr5:74689406 [GRCh38]
Chr5:73985231 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.735A>T (p.Pro245=) single nucleotide variant Sandhoff disease [RCV001494135] Chr5:74705284 [GRCh38]
Chr5:74001109 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) deletion Sandhoff disease [RCV001386324] Chr5:74718853..74718857 [GRCh38]
Chr5:74014678..74014682 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.299+7G>C single nucleotide variant Sandhoff disease [RCV001479567] Chr5:74685566 [GRCh38]
Chr5:73981391 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.855C>A (p.Val285=) single nucleotide variant Sandhoff disease [RCV001424567] Chr5:74713589 [GRCh38]
Chr5:74009414 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.240C>T (p.Ser80=) single nucleotide variant Sandhoff disease [RCV001466906] Chr5:74685500 [GRCh38]
Chr5:73981325 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.147G>C (p.Ser49=) single nucleotide variant Sandhoff disease [RCV003108942] Chr5:74685407 [GRCh38]
Chr5:73981232 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) single nucleotide variant Sandhoff disease [RCV003236447] Chr5:74697048 [GRCh38]
Chr5:73992873 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.988T>G (p.Tyr330Asp) single nucleotide variant not specified [RCV001797887] Chr5:74715596 [GRCh38]
Chr5:74011421 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) single nucleotide variant Sandhoff disease [RCV001797888] Chr5:74713585 [GRCh38]
Chr5:74009410 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.178C>A (p.Pro60Thr) single nucleotide variant not specified [RCV001797889] Chr5:74685438 [GRCh38]
Chr5:73981263 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.299G>A (p.Arg100Gln) single nucleotide variant not specified [RCV001806718] Chr5:74685559 [GRCh38]
Chr5:73981384 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) single nucleotide variant Sandhoff disease [RCV001732819]|not provided [RCV003481126] Chr5:74720732 [GRCh38]
Chr5:74016557 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1378T>C (p.Trp460Arg) single nucleotide variant not specified [RCV001733375] Chr5:74718932 [GRCh38]
Chr5:74014757 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.880C>T (p.His294Tyr) single nucleotide variant Sandhoff disease [RCV001806307] Chr5:74713614 [GRCh38]
Chr5:74009439 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg) single nucleotide variant not provided [RCV001816395]|not specified [RCV003388052] Chr5:74720720 [GRCh38]
Chr5:74016545 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1049A>T (p.His350Leu) single nucleotide variant Sandhoff disease [RCV001823432] Chr5:74715657 [GRCh38]
Chr5:74011482 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) single nucleotide variant Sandhoff disease [RCV001864525] Chr5:74689420 [GRCh38]
Chr5:73985245 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) single nucleotide variant Sandhoff disease [RCV001928798] Chr5:74715534 [GRCh38]
Chr5:74011359 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) deletion Sandhoff disease [RCV002040611] Chr5:74721143..74721156 [GRCh38]
Chr5:74016968..74016981 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) insertion Sandhoff disease [RCV001949467] Chr5:74718857..74718858 [GRCh38]
Chr5:74014682..74014683 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1614-7_1614-1dup duplication Sandhoff disease [RCV002020553] Chr5:74721110..74721111 [GRCh38]
Chr5:74016935..74016936 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1169+1G>C single nucleotide variant Sandhoff disease [RCV001984294] Chr5:74716674 [GRCh38]
Chr5:74012499 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) single nucleotide variant Sandhoff disease [RCV001891756]|not specified [RCV002266054] Chr5:74685436 [GRCh38]
Chr5:73981261 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1482T>C (p.Asp494=) single nucleotide variant Sandhoff disease [RCV001970402] Chr5:74720492 [GRCh38]
Chr5:74016317 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.766A>C (p.Asn256His) single nucleotide variant Inborn genetic diseases [RCV002542730]|Sandhoff disease [RCV001823551] Chr5:74705315 [GRCh38]
Chr5:74001140 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1614-63_1614-36del deletion not provided [RCV002052329] Chr5:74721042..74721069 [GRCh38]
Chr5:74016867..74016894 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) single nucleotide variant Sandhoff disease [RCV001983432] Chr5:74720648 [GRCh38]
Chr5:74016473 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) single nucleotide variant Sandhoff disease [RCV002038495] Chr5:74713606 [GRCh38]
Chr5:74009431 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.705C>G (p.His235Gln) single nucleotide variant Sandhoff disease [RCV002038611] Chr5:74705254 [GRCh38]
Chr5:74001079 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1508+1G>A single nucleotide variant Sandhoff disease [RCV002015164] Chr5:74720519 [GRCh38]
Chr5:74016344 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1024del (p.Glu342fs) deletion Sandhoff disease [RCV001941667] Chr5:74715632 [GRCh38]
Chr5:74011457 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.300-1G>C single nucleotide variant Sandhoff disease [RCV002046604] Chr5:74689327 [GRCh38]
Chr5:73985152 [GRCh37]
Chr5:5q13.3
likely pathogenic
NC_000005.9:g.(?_73992508)_(73992941_?)dup duplication Sandhoff disease [RCV002010274] Chr5:73992508..73992941 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) deletion Sandhoff disease [RCV001922480] Chr5:74715524..74715525 [GRCh38]
Chr5:74011349..74011350 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.881A>G (p.His294Arg) single nucleotide variant Sandhoff disease [RCV001918425] Chr5:74713615 [GRCh38]
Chr5:74009440 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.731del (p.Phe244fs) deletion Sandhoff disease [RCV001952947] Chr5:74705278 [GRCh38]
Chr5:74001103 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) single nucleotide variant Sandhoff disease [RCV001932327] Chr5:74697096 [GRCh38]
Chr5:73992921 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NC_000005.9:g.(?_73985143)_(74014806_?)del deletion Sandhoff disease [RCV001939657] Chr5:73985143..74014806 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) insertion Sandhoff disease [RCV001989977] Chr5:74716646..74716647 [GRCh38]
Chr5:74012471..74012472 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1404del (p.Asp470fs) deletion Sandhoff disease [RCV001956231] Chr5:74718958 [GRCh38]
Chr5:74014783 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) single nucleotide variant Sandhoff disease [RCV001902454] Chr5:74693645 [GRCh38]
Chr5:73989470 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro) single nucleotide variant Sandhoff disease [RCV001937627] Chr5:74696723 [GRCh38]
Chr5:73992548 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) deletion Sandhoff disease [RCV001920974] Chr5:74718831..74718832 [GRCh38]
Chr5:74014656..74014657 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) insertion Sandhoff disease [RCV001958961] Chr5:74715600..74715601 [GRCh38]
Chr5:74011425..74011426 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg) single nucleotide variant Sandhoff disease [RCV001883239] Chr5:74718919 [GRCh38]
Chr5:74014744 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) duplication Sandhoff disease [RCV001883814] Chr5:74718817..74718818 [GRCh38]
Chr5:74014642..74014643 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.902-5T>G single nucleotide variant Sandhoff disease [RCV001999146] Chr5:74715505 [GRCh38]
Chr5:74011330 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NC_000005.9:g.(?_74011325)_(74017010_?)del deletion Sandhoff disease [RCV001899173] Chr5:74011325..74017010 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.531G>A (p.Gln177=) single nucleotide variant Sandhoff disease [RCV002208982] Chr5:74696712 [GRCh38]
Chr5:73992537 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.879G>C (p.Gly293=) single nucleotide variant Sandhoff disease [RCV002075543] Chr5:74713613 [GRCh38]
Chr5:74009438 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.138G>A (p.Pro46=) single nucleotide variant Sandhoff disease [RCV002144876] Chr5:74685398 [GRCh38]
Chr5:73981223 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.582T>C (p.Ile194=) single nucleotide variant Sandhoff disease [RCV002125512] Chr5:74697019 [GRCh38]
Chr5:73992844 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.75G>A (p.Ala25=) single nucleotide variant Sandhoff disease [RCV002088593] Chr5:74685335 [GRCh38]
Chr5:73981160 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1242+17C>A single nucleotide variant Sandhoff disease [RCV002075676] Chr5:74718380 [GRCh38]
Chr5:74014205 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.669+10T>C single nucleotide variant Sandhoff disease [RCV002186444] Chr5:74697116 [GRCh38]
Chr5:73992941 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.381T>C (p.Leu127=) single nucleotide variant Sandhoff disease [RCV002089151] Chr5:74689409 [GRCh38]
Chr5:73985234 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.339T>C (p.His113=) single nucleotide variant Sandhoff disease [RCV002191171] Chr5:74689367 [GRCh38]
Chr5:73985192 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.660T>G (p.Leu220=) single nucleotide variant Sandhoff disease [RCV002145986] Chr5:74697097 [GRCh38]
Chr5:73992922 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.738T>C (p.Tyr246=) single nucleotide variant Sandhoff disease [RCV002074533] Chr5:74705287 [GRCh38]
Chr5:74001112 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.669+10T>G single nucleotide variant Sandhoff disease [RCV002148208] Chr5:74697116 [GRCh38]
Chr5:73992941 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.138G>T (p.Pro46=) single nucleotide variant Sandhoff disease [RCV002105296] Chr5:74685398 [GRCh38]
Chr5:73981223 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.567C>T (p.Ile189=) single nucleotide variant Sandhoff disease [RCV002209418] Chr5:74697004 [GRCh38]
Chr5:73992829 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.66G>A (p.Leu22=) single nucleotide variant Sandhoff disease [RCV002129278] Chr5:74685326 [GRCh38]
Chr5:73981151 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.471G>A (p.Val157=) single nucleotide variant Sandhoff disease [RCV002166972] Chr5:74693664 [GRCh38]
Chr5:73989489 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.858G>A (p.Leu286=) single nucleotide variant Sandhoff disease [RCV002205154] Chr5:74713592 [GRCh38]
Chr5:74009417 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.559-18A>T single nucleotide variant Sandhoff disease [RCV002191332] Chr5:74696978 [GRCh38]
Chr5:73992803 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+6_1613+21dup duplication Sandhoff disease [RCV002209628] Chr5:74720752..74720753 [GRCh38]
Chr5:74016577..74016578 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1512T>C (p.Pro504=) single nucleotide variant Sandhoff disease [RCV002129322] Chr5:74720646 [GRCh38]
Chr5:74016471 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.446-6A>T single nucleotide variant Sandhoff disease [RCV002128196] Chr5:74693633 [GRCh38]
Chr5:73989458 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.12C>T (p.Cys4=) single nucleotide variant Sandhoff disease [RCV002086426] Chr5:74685272 [GRCh38]
Chr5:73981097 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-4C>T single nucleotide variant Sandhoff disease [RCV002088606] Chr5:74718287 [GRCh38]
Chr5:74014112 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1508+7G>A single nucleotide variant Sandhoff disease [RCV002152934] Chr5:74720525 [GRCh38]
Chr5:74016350 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.993C>T (p.Ser331=) single nucleotide variant Sandhoff disease [RCV002115008] Chr5:74715601 [GRCh38]
Chr5:74011426 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.159G>A (p.Gly53=) single nucleotide variant Sandhoff disease [RCV002113155] Chr5:74685419 [GRCh38]
Chr5:73981244 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.93T>C (p.Thr31=) single nucleotide variant Sandhoff disease [RCV002197470] Chr5:74685353 [GRCh38]
Chr5:73981178 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.888A>G (p.Leu296=) single nucleotide variant Sandhoff disease [RCV002117280] Chr5:74713622 [GRCh38]
Chr5:74009447 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.670-8G>A single nucleotide variant Sandhoff disease [RCV002153764] Chr5:74705211 [GRCh38]
Chr5:74001036 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.772-8T>C single nucleotide variant Sandhoff disease [RCV002153217] Chr5:74713498 [GRCh38]
Chr5:74009323 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.559-4A>G single nucleotide variant Sandhoff disease [RCV002114233] Chr5:74696992 [GRCh38]
Chr5:73992817 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.354C>T (p.Phe118=) single nucleotide variant Sandhoff disease [RCV002113689] Chr5:74689382 [GRCh38]
Chr5:73985207 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1437A>C (p.Gln479His) single nucleotide variant Inborn genetic diseases [RCV003007092]|Sandhoff disease [RCV002097664] Chr5:74720447 [GRCh38]
Chr5:74016272 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.705C>T (p.His235=) single nucleotide variant Sandhoff disease [RCV002127661] Chr5:74705254 [GRCh38]
Chr5:74001079 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1437A>G (p.Gln479=) single nucleotide variant Sandhoff disease [RCV002091689] Chr5:74720447 [GRCh38]
Chr5:74016272 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-26G>C single nucleotide variant Sandhoff disease [RCV002150194] Chr5:74720617 [GRCh38]
Chr5:74016442 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1263T>G (p.Val421=) single nucleotide variant Sandhoff disease [RCV002118984] Chr5:74718817 [GRCh38]
Chr5:74014642 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.873C>T (p.Thr291=) single nucleotide variant Sandhoff disease [RCV002121079] Chr5:74713607 [GRCh38]
Chr5:74009432 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1382G>A (p.Arg461Lys) single nucleotide variant Sandhoff disease [RCV002226893] Chr5:74718936 [GRCh38]
Chr5:74014761 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=) single nucleotide variant Sandhoff disease [RCV002175524] Chr5:74721154 [GRCh38]
Chr5:74016979 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser) single nucleotide variant Sandhoff disease [RCV002177544] Chr5:74685511 [GRCh38]
Chr5:73981336 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.657T>C (p.Ile219=) single nucleotide variant Sandhoff disease [RCV002202162] Chr5:74697094 [GRCh38]
Chr5:73992919 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.670-9T>G single nucleotide variant Sandhoff disease [RCV002100781] Chr5:74705210 [GRCh38]
Chr5:74001035 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.446-7A>G single nucleotide variant Sandhoff disease [RCV002200778] Chr5:74693632 [GRCh38]
Chr5:73989457 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1560A>G (p.Arg520=) single nucleotide variant Sandhoff disease [RCV002182239] Chr5:74720694 [GRCh38]
Chr5:74016519 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.558+16A>G single nucleotide variant Sandhoff disease [RCV002100056] Chr5:74696755 [GRCh38]
Chr5:73992580 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+10del deletion Sandhoff disease [RCV002083847] Chr5:74720757 [GRCh38]
Chr5:74016582 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.525T>C (p.Phe175=) single nucleotide variant Sandhoff disease [RCV002120464] Chr5:74696706 [GRCh38]
Chr5:73992531 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1101T>C (p.Ile367=) single nucleotide variant Sandhoff disease [RCV002198718] Chr5:74716605 [GRCh38]
Chr5:74012430 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu) single nucleotide variant Sandhoff disease [RCV002156829] Chr5:74715635 [GRCh38]
Chr5:74011460 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.654T>A (p.Ile218=) single nucleotide variant Sandhoff disease [RCV002178270] Chr5:74697091 [GRCh38]
Chr5:73992916 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1251G>T (p.Pro417=) single nucleotide variant Sandhoff disease [RCV002120531] Chr5:74718805 [GRCh38]
Chr5:74014630 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1169+8G>T single nucleotide variant Sandhoff disease [RCV002162716] Chr5:74716681 [GRCh38]
Chr5:74012506 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1083-10T>A single nucleotide variant Sandhoff disease [RCV002184251] Chr5:74716577 [GRCh38]
Chr5:74012402 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-7A>T single nucleotide variant Sandhoff disease [RCV002164634] Chr5:74720636 [GRCh38]
Chr5:74016461 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=) single nucleotide variant Sandhoff disease [RCV002182681] Chr5:74721145 [GRCh38]
Chr5:74016970 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.552T>C (p.Tyr184=) single nucleotide variant Sandhoff disease [RCV002098714] Chr5:74696733 [GRCh38]
Chr5:73992558 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.189G>A (p.Val63=) single nucleotide variant Sandhoff disease [RCV002143348] Chr5:74685449 [GRCh38]
Chr5:73981274 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1082+25_1082+26insA insertion not provided [RCV002222779] Chr5:74715715..74715716 [GRCh38]
Chr5:74011540..74011541 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1494C>T (p.Leu498=) single nucleotide variant Sandhoff disease [RCV002199508] Chr5:74720504 [GRCh38]
Chr5:74016329 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.772-5T>C single nucleotide variant Sandhoff disease [RCV002123050] Chr5:74713501 [GRCh38]
Chr5:74009326 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.390A>C (p.Ser130=) single nucleotide variant Sandhoff disease [RCV002176102] Chr5:74689418 [GRCh38]
Chr5:73985243 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.135C>T (p.Ala45=) single nucleotide variant Sandhoff disease [RCV002176219] Chr5:74685395 [GRCh38]
Chr5:73981220 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-21del deletion Sandhoff disease [RCV002100975] Chr5:74720617 [GRCh38]
Chr5:74016442 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.55T>C (p.Leu19=) single nucleotide variant Sandhoff disease [RCV002178649] Chr5:74685315 [GRCh38]
Chr5:73981140 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1539C>T (p.Leu513=) single nucleotide variant Sandhoff disease [RCV002142397] Chr5:74720673 [GRCh38]
Chr5:74016498 [GRCh37]
Chr5:5q13.3
likely benign
NC_000005.9:g.(?_73981076)_(73981394_?)del deletion Sandhoff disease [RCV003111341] Chr5:73981076..73981394 [GRCh37]
Chr5:5q13.3
pathogenic
NC_000005.9:g.(?_73980960)_(75008762_?)dup duplication Sandhoff disease [RCV003111342]|not provided [RCV003122290] Chr5:73980960..75008762 [GRCh37]
Chr5:5q13.3
uncertain significance|no classifications from unflagged records
NC_000005.9:g.(?_73978914)_(73981242_?)del deletion Sandhoff disease [RCV003111343] Chr5:73978914..73981242 [GRCh37]
Chr5:5q13.3
pathogenic
NC_000005.9:g.(?_73980960)_(74041702_?)del deletion Sandhoff disease [RCV003111344] Chr5:73980960..74041702 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.771+14A>G single nucleotide variant Sandhoff disease [RCV003117048] Chr5:74705334 [GRCh38]
Chr5:74001159 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.79T>C (p.Leu27=) single nucleotide variant Sandhoff disease [RCV003117255] Chr5:74685339 [GRCh38]
Chr5:73981164 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-20A>T single nucleotide variant Sandhoff disease [RCV003118827] Chr5:74720623 [GRCh38]
Chr5:74016448 [GRCh37]
Chr5:5q13.3
likely benign
NC_000005.9:g.(?_73980960)_(74059567_?)dup duplication not provided [RCV003122863] Chr5:73980960..74059567 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) single nucleotide variant Sandhoff disease [RCV002273215] Chr5:74715669 [GRCh38]
Chr5:74011494 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) single nucleotide variant Sandhoff disease [RCV002243554] Chr5:74693640 [GRCh38]
Chr5:73989465 [GRCh37]
Chr5:5q13.3
likely pathogenic
NC_000005.9:g.(?_73980968)_(73992932_74001043)del deletion Sandhoff disease [RCV002282832] Chr5:73980968..73992932 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1082+40del deletion not provided [RCV002285654] Chr5:74715717 [GRCh38]
Chr5:74011542 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.686A>G (p.Asn229Ser) single nucleotide variant not provided [RCV002261767] Chr5:74705235 [GRCh38]
Chr5:74001060 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.969C>A (p.Asn323Lys) single nucleotide variant Sandhoff disease [RCV003131128] Chr5:74715577 [GRCh38]
Chr5:74011402 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter) single nucleotide variant Sandhoff disease [RCV002309216] Chr5:74713519 [GRCh38]
Chr5:74009344 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter) single nucleotide variant Sandhoff disease [RCV002306496] Chr5:74718340 [GRCh38]
Chr5:74014165 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter) single nucleotide variant Sandhoff disease [RCV002310082] Chr5:74697054 [GRCh38]
Chr5:73992879 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.341_342del (p.Glu114fs) deletion Sandhoff disease [RCV002306995] Chr5:74689369..74689370 [GRCh38]
Chr5:73985194..73985195 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1434dup (p.Gln479fs) duplication Sandhoff disease [RCV002307052] Chr5:74720441..74720442 [GRCh38]
Chr5:74016266..74016267 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter) single nucleotide variant Sandhoff disease [RCV002307327] Chr5:74705287 [GRCh38]
Chr5:74001112 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.971dup (p.Thr325fs) duplication Sandhoff disease [RCV002307068] Chr5:74715576..74715577 [GRCh38]
Chr5:74011401..74011402 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs) indel Sandhoff disease [RCV002309465] Chr5:74685555..74685556 [GRCh38]
Chr5:73981380..73981381 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.860del (p.Pro287fs) deletion Sandhoff disease [RCV002309205] Chr5:74713593 [GRCh38]
Chr5:74009418 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.626del (p.Thr209fs) deletion Sandhoff disease [RCV002309533] Chr5:74697063 [GRCh38]
Chr5:73992888 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.277del (p.Leu93fs) deletion Sandhoff disease [RCV002309840] Chr5:74685535 [GRCh38]
Chr5:73981360 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter) single nucleotide variant Sandhoff disease [RCV002309962] Chr5:74718361 [GRCh38]
Chr5:74014186 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs) indel Sandhoff disease [RCV002310382] Chr5:74685555..74685557 [GRCh38]
Chr5:73981380..73981382 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs) indel Sandhoff disease [RCV002308275] Chr5:74716642..74716644 [GRCh38]
Chr5:74012467..74012469 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.187G>A (p.Val63Met) single nucleotide variant Inborn genetic diseases [RCV002840190] Chr5:74685447 [GRCh38]
Chr5:73981272 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg) single nucleotide variant Sandhoff disease [RCV002615841] Chr5:74685481 [GRCh38]
Chr5:73981306 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1469del (p.Gly490fs) deletion Sandhoff disease [RCV002686008] Chr5:74720476 [GRCh38]
Chr5:74016301 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter) duplication Sandhoff disease [RCV002510393] Chr5:74721143..74721144 [GRCh38]
Chr5:74016968..74016969 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1671A>G (p.Ter557=) single nucleotide variant Sandhoff disease [RCV002838763] Chr5:74721175 [GRCh38]
Chr5:74017000 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr) single nucleotide variant Sandhoff disease [RCV002972548] Chr5:74713558 [GRCh38]
Chr5:74009383 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1473A>G (p.Glu491=) single nucleotide variant Sandhoff disease [RCV002881657] Chr5:74720483 [GRCh38]
Chr5:74016308 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser) single nucleotide variant Inborn genetic diseases [RCV002904462]|Sandhoff disease [RCV002904461] Chr5:74697029 [GRCh38]
Chr5:73992854 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs) duplication Sandhoff disease [RCV003033041] Chr5:74720441..74720442 [GRCh38]
Chr5:74016266..74016267 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1653T>C (p.Cys551=) single nucleotide variant Sandhoff disease [RCV002858385] Chr5:74721157 [GRCh38]
Chr5:74016982 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.306T>C (p.His102=) single nucleotide variant Sandhoff disease [RCV002751056] Chr5:74689334 [GRCh38]
Chr5:73985159 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.495T>C (p.Val165=) single nucleotide variant Sandhoff disease [RCV003076262] Chr5:74693688 [GRCh38]
Chr5:73989513 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1276G>C (p.Asp426His) single nucleotide variant Sandhoff disease [RCV003098915] Chr5:74718830 [GRCh38]
Chr5:74014655 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.261G>A (p.Ala87=) single nucleotide variant Sandhoff disease [RCV003076548] Chr5:74685521 [GRCh38]
Chr5:73981346 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser) single nucleotide variant Sandhoff disease [RCV003077083] Chr5:74689453 [GRCh38]
Chr5:73985278 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter) single nucleotide variant Sandhoff disease [RCV002819878] Chr5:74713628 [GRCh38]
Chr5:74009453 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.7C>T (p.Leu3=) single nucleotide variant Sandhoff disease [RCV002779997] Chr5:74685267 [GRCh38]
Chr5:73981092 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg) single nucleotide variant Sandhoff disease [RCV002726224] Chr5:74718806 [GRCh38]
Chr5:74014631 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser) single nucleotide variant Sandhoff disease [RCV002947833] Chr5:74685420 [GRCh38]
Chr5:73981245 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.670-10T>C single nucleotide variant Sandhoff disease [RCV002815604] Chr5:74705209 [GRCh38]
Chr5:74001034 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.408G>A (p.Glu136=) single nucleotide variant Sandhoff disease [RCV002881656] Chr5:74689436 [GRCh38]
Chr5:73985261 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu) single nucleotide variant Sandhoff disease [RCV003075400] Chr5:74713601 [GRCh38]
Chr5:74009426 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.446-4A>G single nucleotide variant Sandhoff disease [RCV002994502] Chr5:74693635 [GRCh38]
Chr5:73989460 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.250A>C (p.Asn84His) single nucleotide variant Sandhoff disease [RCV003076174] Chr5:74685510 [GRCh38]
Chr5:73981335 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.165G>T (p.Ala55=) single nucleotide variant Sandhoff disease [RCV002863647] Chr5:74685425 [GRCh38]
Chr5:73981250 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.387C>G (p.Val129=) single nucleotide variant Sandhoff disease [RCV003076661] Chr5:74689415 [GRCh38]
Chr5:73985240 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-9T>C single nucleotide variant Sandhoff disease [RCV003038458] Chr5:74721109 [GRCh38]
Chr5:74016934 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.646G>A (p.Val216Ile) single nucleotide variant Sandhoff disease [RCV002780635] Chr5:74697083 [GRCh38]
Chr5:73992908 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.445+8C>T single nucleotide variant Sandhoff disease [RCV003039433] Chr5:74689481 [GRCh38]
Chr5:73985306 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.875dup (p.Gly293fs) duplication Sandhoff disease [RCV002871343] Chr5:74713605..74713606 [GRCh38]
Chr5:74009430..74009431 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.822G>C (p.Val274=) single nucleotide variant Sandhoff disease [RCV002800058] Chr5:74713556 [GRCh38]
Chr5:74009381 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.52C>T (p.Leu18=) single nucleotide variant Sandhoff disease [RCV002848143] Chr5:74685312 [GRCh38]
Chr5:73981137 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.858G>T (p.Leu286=) single nucleotide variant Sandhoff disease [RCV002871127] Chr5:74713592 [GRCh38]
Chr5:74009417 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp) single nucleotide variant Sandhoff disease [RCV002756836] Chr5:74718807 [GRCh38]
Chr5:74014632 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu) single nucleotide variant Sandhoff disease [RCV002785653] Chr5:74685292 [GRCh38]
Chr5:73981117 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.164C>T (p.Ala55Val) single nucleotide variant Inborn genetic diseases [RCV003162052]|Sandhoff disease [RCV002637726] Chr5:74685424 [GRCh38]
Chr5:73981249 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.771+10T>C single nucleotide variant Sandhoff disease [RCV003077654] Chr5:74705330 [GRCh38]
Chr5:74001155 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln) single nucleotide variant Sandhoff disease [RCV003035910] Chr5:74685310 [GRCh38]
Chr5:73981135 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr) single nucleotide variant Sandhoff disease [RCV002636896] Chr5:74685496 [GRCh38]
Chr5:73981321 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys) single nucleotide variant Sandhoff disease [RCV003079671] Chr5:74685529 [GRCh38]
Chr5:73981354 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.558+10A>G single nucleotide variant Sandhoff disease [RCV002659519] Chr5:74696749 [GRCh38]
Chr5:73992574 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1581C>T (p.Asp527=) single nucleotide variant Sandhoff disease [RCV002691001] Chr5:74720715 [GRCh38]
Chr5:74016540 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.231C>T (p.Phe77=) single nucleotide variant Sandhoff disease [RCV002781320] Chr5:74685491 [GRCh38]
Chr5:73981316 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr) single nucleotide variant Sandhoff disease [RCV003077662] Chr5:74705319 [GRCh38]
Chr5:74001144 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.444T>G (p.Ser148=) single nucleotide variant Sandhoff disease [RCV003078366] Chr5:74689472 [GRCh38]
Chr5:73985297 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe) single nucleotide variant Sandhoff disease [RCV003001951] Chr5:74685441 [GRCh38]
Chr5:73981266 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1050T>C (p.His350=) single nucleotide variant Sandhoff disease [RCV002867026] Chr5:74715658 [GRCh38]
Chr5:74011483 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.811G>A (p.Val271Ile) single nucleotide variant Sandhoff disease [RCV003079900] Chr5:74713545 [GRCh38]
Chr5:74009370 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.234C>T (p.Tyr78=) single nucleotide variant Sandhoff disease [RCV002591440] Chr5:74685494 [GRCh38]
Chr5:73981319 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.758del (p.Glu253fs) deletion Sandhoff disease [RCV003020686] Chr5:74705307 [GRCh38]
Chr5:74001132 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1613+15_1613+19dup duplication Sandhoff disease [RCV002785271] Chr5:74720761..74720762 [GRCh38]
Chr5:74016586..74016587 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp) single nucleotide variant Sandhoff disease [RCV003055316] Chr5:74705229 [GRCh38]
Chr5:74001054 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn) single nucleotide variant Inborn genetic diseases [RCV003089561]|Sandhoff disease [RCV003078641] Chr5:74718830 [GRCh38]
Chr5:74014655 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1327G>A (p.Val443Ile) single nucleotide variant Inborn genetic diseases [RCV002782955] Chr5:74718881 [GRCh38]
Chr5:74014706 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser) single nucleotide variant Sandhoff disease [RCV003100183] Chr5:74693681 [GRCh38]
Chr5:73989506 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.446-12T>C single nucleotide variant Sandhoff disease [RCV002870759] Chr5:74693627 [GRCh38]
Chr5:73989452 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.559-1G>A single nucleotide variant Sandhoff disease [RCV002923314] Chr5:74696995 [GRCh38]
Chr5:73992820 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.710A>G (p.His237Arg) single nucleotide variant Sandhoff disease [RCV002638100] Chr5:74705259 [GRCh38]
Chr5:74001084 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg) single nucleotide variant Sandhoff disease [RCV002592841] Chr5:74720475 [GRCh38]
Chr5:74016300 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1569T>C (p.Asp523=) single nucleotide variant Sandhoff disease [RCV002870973] Chr5:74720703 [GRCh38]
Chr5:74016528 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1169+5G>C single nucleotide variant Sandhoff disease [RCV002918340] Chr5:74716678 [GRCh38]
Chr5:74012503 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1654A>C (p.Asn552His) single nucleotide variant Inborn genetic diseases [RCV002830974] Chr5:74721158 [GRCh38]
Chr5:74016983 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.810T>C (p.Asp270=) single nucleotide variant Sandhoff disease [RCV003043609] Chr5:74713544 [GRCh38]
Chr5:74009369 [GRCh37]
Chr5:5q13.3
likely benign
NM_001292004.2(HEXB):c.-376-4189C>T single nucleotide variant Sandhoff disease [RCV002958911] Chr5:74685139 [GRCh38]
Chr5:73980964 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.534_537del (p.Leu178fs) microsatellite Sandhoff disease [RCV002640733] Chr5:74696711..74696714 [GRCh38]
Chr5:73992536..73992539 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1416C>T (p.Gly472=) single nucleotide variant Sandhoff disease [RCV002643832] Chr5:74718970 [GRCh38]
Chr5:74014795 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1066G>A (p.Val356Met) single nucleotide variant Sandhoff disease [RCV002644527] Chr5:74715674 [GRCh38]
Chr5:74011499 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1508+6G>C single nucleotide variant Sandhoff disease [RCV003084038] Chr5:74720524 [GRCh38]
Chr5:74016349 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe) single nucleotide variant Sandhoff disease [RCV002851422] Chr5:74720502 [GRCh38]
Chr5:74016327 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1398G>A (p.Val466=) single nucleotide variant Sandhoff disease [RCV002663985] Chr5:74718952 [GRCh38]
Chr5:74014777 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.817A>G (p.Met273Val) single nucleotide variant Sandhoff disease [RCV003005313] Chr5:74713551 [GRCh38]
Chr5:74009376 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.300-4dup duplication Sandhoff disease [RCV002890104] Chr5:74689321..74689322 [GRCh38]
Chr5:73985146..73985147 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter) single nucleotide variant Sandhoff disease [RCV002740583] Chr5:74718337 [GRCh38]
Chr5:74014162 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.190A>G (p.Lys64Glu) single nucleotide variant Inborn genetic diseases [RCV002763472] Chr5:74685450 [GRCh38]
Chr5:73981275 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1082+7T>C single nucleotide variant Sandhoff disease [RCV003057340] Chr5:74715697 [GRCh38]
Chr5:74011522 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1107T>C (p.Asp369=) single nucleotide variant Sandhoff disease [RCV002745595] Chr5:74716611 [GRCh38]
Chr5:74012436 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr) single nucleotide variant Inborn genetic diseases [RCV002786753]|Sandhoff disease [RCV002800630]|not provided [RCV003427507] Chr5:74697069 [GRCh38]
Chr5:73992894 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.558+7A>G single nucleotide variant Sandhoff disease [RCV002805253] Chr5:74696746 [GRCh38]
Chr5:73992571 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1284A>G (p.Ala428=) single nucleotide variant Sandhoff disease [RCV003056457] Chr5:74718838 [GRCh38]
Chr5:74014663 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1243-9C>A single nucleotide variant Sandhoff disease [RCV003039941] Chr5:74718788 [GRCh38]
Chr5:74014613 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly) single nucleotide variant Sandhoff disease [RCV002644344] Chr5:74720737 [GRCh38]
Chr5:74016562 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1134A>G (p.Thr378=) single nucleotide variant Sandhoff disease [RCV003083341] Chr5:74716638 [GRCh38]
Chr5:74012463 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1464A>G (p.Leu488=) single nucleotide variant Sandhoff disease [RCV002852987] Chr5:74720474 [GRCh38]
Chr5:74016299 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs) deletion Sandhoff disease [RCV002594449] Chr5:74720440..74720441 [GRCh38]
Chr5:74016265..74016266 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys) single nucleotide variant Sandhoff disease [RCV003084431] Chr5:74689361 [GRCh38]
Chr5:73985186 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter) single nucleotide variant Sandhoff disease [RCV002875685] Chr5:74715545 [GRCh38]
Chr5:74011370 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.120G>A (p.Ala40=) single nucleotide variant Sandhoff disease [RCV003083479] Chr5:74685380 [GRCh38]
Chr5:73981205 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.21G>A (p.Gly7=) single nucleotide variant Sandhoff disease [RCV002871689] Chr5:74685281 [GRCh38]
Chr5:73981106 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1593G>A (p.Arg531=) single nucleotide variant Sandhoff disease [RCV003010314] Chr5:74720727 [GRCh38]
Chr5:74016552 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg) single nucleotide variant Sandhoff disease [RCV002833279] Chr5:74689437 [GRCh38]
Chr5:73985262 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.790C>T (p.His264Tyr) single nucleotide variant Sandhoff disease [RCV003048491] Chr5:74713524 [GRCh38]
Chr5:74009349 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala) single nucleotide variant Sandhoff disease [RCV002900554] Chr5:74715530 [GRCh38]
Chr5:74011355 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1605G>A (p.Arg535=) single nucleotide variant Sandhoff disease [RCV003045992] Chr5:74720739 [GRCh38]
Chr5:74016564 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1048C>G (p.His350Asp) single nucleotide variant Sandhoff disease [RCV002627930] Chr5:74715656 [GRCh38]
Chr5:74011481 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=) single nucleotide variant Sandhoff disease [RCV002579759] Chr5:74720486 [GRCh38]
Chr5:74016311 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.321T>A (p.Gly107=) single nucleotide variant Sandhoff disease [RCV003089778] Chr5:74689349 [GRCh38]
Chr5:73985174 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys) single nucleotide variant Sandhoff disease [RCV002628427] Chr5:74696720 [GRCh38]
Chr5:73992545 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1104A>C (p.Gln368His) single nucleotide variant Inborn genetic diseases [RCV003068291]|Sandhoff disease [RCV003062914] Chr5:74716608 [GRCh38]
Chr5:74012433 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg) single nucleotide variant Sandhoff disease [RCV002746567] Chr5:74713578 [GRCh38]
Chr5:74009403 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1005A>G (p.Thr335=) single nucleotide variant Sandhoff disease [RCV002810067]|not provided [RCV003326638] Chr5:74715613 [GRCh38]
Chr5:74011438 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.924A>C (p.Pro308=) single nucleotide variant Sandhoff disease [RCV003046733] Chr5:74715532 [GRCh38]
Chr5:74011357 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.96G>C (p.Gln32His) single nucleotide variant Sandhoff disease [RCV002806423] Chr5:74685356 [GRCh38]
Chr5:73981181 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.166C>T (p.Leu56=) single nucleotide variant Sandhoff disease [RCV002805970] Chr5:74685426 [GRCh38]
Chr5:73981251 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1242+3G>A single nucleotide variant Sandhoff disease [RCV002671463] Chr5:74718366 [GRCh38]
Chr5:74014191 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.516A>G (p.Leu172=) single nucleotide variant Sandhoff disease [RCV002876929] Chr5:74696697 [GRCh38]
Chr5:73992522 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile) single nucleotide variant Sandhoff disease [RCV002646614] Chr5:74716637 [GRCh38]
Chr5:74012462 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.117G>T (p.Val39=) single nucleotide variant Sandhoff disease [RCV003030323]|not provided [RCV003222455] Chr5:74685377 [GRCh38]
Chr5:73981202 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-10T>C single nucleotide variant Sandhoff disease [RCV002857678] Chr5:74720633 [GRCh38]
Chr5:74016458 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.15G>T (p.Gly5=) single nucleotide variant Sandhoff disease [RCV003026421] Chr5:74685275 [GRCh38]
Chr5:73981100 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.565A>G (p.Ile189Val) single nucleotide variant Sandhoff disease [RCV003087528] Chr5:74697002 [GRCh38]
Chr5:73992827 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter) single nucleotide variant Sandhoff disease [RCV003087850] Chr5:74721149 [GRCh38]
Chr5:74016974 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu) single nucleotide variant Sandhoff disease [RCV002579001] Chr5:74685280 [GRCh38]
Chr5:73981105 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1509-8A>T single nucleotide variant Sandhoff disease [RCV002961891] Chr5:74720635 [GRCh38]
Chr5:74016460 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe) single nucleotide variant Sandhoff disease [RCV003046519] Chr5:74715661 [GRCh38]
Chr5:74011486 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1242+9dup duplication Sandhoff disease [RCV003031662] Chr5:74718370..74718371 [GRCh38]
Chr5:74014195..74014196 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1611C>T (p.Val537=) single nucleotide variant Sandhoff disease [RCV002580668] Chr5:74720745 [GRCh38]
Chr5:74016570 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1335T>G (p.Leu445=) single nucleotide variant Sandhoff disease [RCV003090627] Chr5:74718889 [GRCh38]
Chr5:74014714 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.801A>G (p.Thr267=) single nucleotide variant Sandhoff disease [RCV003051965] Chr5:74713535 [GRCh38]
Chr5:74009360 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr) single nucleotide variant Sandhoff disease [RCV003050796] Chr5:74685549 [GRCh38]
Chr5:73981374 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.522C>A (p.Thr174=) single nucleotide variant Sandhoff disease [RCV003049656] Chr5:74696703 [GRCh38]
Chr5:73992528 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+17G>T single nucleotide variant Sandhoff disease [RCV003051215] Chr5:74720764 [GRCh38]
Chr5:74016589 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.587A>T (p.Asp196Val) single nucleotide variant Inborn genetic diseases [RCV002723230] Chr5:74697024 [GRCh38]
Chr5:73992849 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.219C>A (p.Ala73=) single nucleotide variant Sandhoff disease [RCV003066980] Chr5:74685479 [GRCh38]
Chr5:73981304 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser) single nucleotide variant Sandhoff disease [RCV003051218] Chr5:74685378 [GRCh38]
Chr5:73981203 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.63A>G (p.Thr21=) single nucleotide variant Sandhoff disease [RCV002653277] Chr5:74685323 [GRCh38]
Chr5:73981148 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly) single nucleotide variant Sandhoff disease [RCV002611300] Chr5:74720482 [GRCh38]
Chr5:74016307 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp) single nucleotide variant Sandhoff disease [RCV002611855] Chr5:74685390 [GRCh38]
Chr5:73981215 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.514T>G (p.Leu172Val) single nucleotide variant Inborn genetic diseases [RCV003186063] Chr5:74696695 [GRCh38]
Chr5:73992520 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.771+985G>A single nucleotide variant Sandhoff disease [RCV003135564] Chr5:74706305 [GRCh38]
Chr5:74002130 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.512G>T (p.Gly171Val) single nucleotide variant Sandhoff disease [RCV003135565] Chr5:74696693 [GRCh38]
Chr5:73992518 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.34C>T (p.Pro12Ser) single nucleotide variant Inborn genetic diseases [RCV003198066] Chr5:74685294 [GRCh38]
Chr5:73981119 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1181T>G (p.Ile394Ser) single nucleotide variant Inborn genetic diseases [RCV003184433] Chr5:74718302 [GRCh38]
Chr5:74014127 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1170-16T>G single nucleotide variant Sandhoff disease [RCV003502763] Chr5:74718275 [GRCh38]
Chr5:74014100 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+4A>G single nucleotide variant not specified [RCV003324393] Chr5:74720751 [GRCh38]
Chr5:74016576 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0 copy number loss Sandhoff disease [RCV003327708] Chr5:74695284..74702264 [GRCh38]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.427A>C (p.Ile143Leu) single nucleotide variant Inborn genetic diseases [RCV003360248] Chr5:74689455 [GRCh38]
Chr5:73985280 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.158G>A (p.Gly53Glu) single nucleotide variant Inborn genetic diseases [RCV003367384] Chr5:74685418 [GRCh38]
Chr5:73981243 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs) deletion Sandhoff disease [RCV003333376] Chr5:74720444..74720445 [GRCh38]
Chr5:74016269..74016270 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1559G>C (p.Arg520Thr) single nucleotide variant Inborn genetic diseases [RCV003373503] Chr5:74720693 [GRCh38]
Chr5:74016518 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.755C>G (p.Pro252Arg) single nucleotide variant Inborn genetic diseases [RCV003362243] Chr5:74705304 [GRCh38]
Chr5:74001129 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.594A>G (p.Pro198=) single nucleotide variant Sandhoff disease [RCV003503270] Chr5:74697031 [GRCh38]
Chr5:73992856 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.591T>C (p.Ser197=) single nucleotide variant Sandhoff disease [RCV003503166] Chr5:74697028 [GRCh38]
Chr5:73992853 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1418-11T>C single nucleotide variant Sandhoff disease [RCV003503398] Chr5:74720417 [GRCh38]
Chr5:74016242 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer) deletion Sandhoff disease [RCV003503922] Chr5:74720710..74720711 [GRCh38]
Chr5:74016535..74016536 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1242+10G>A single nucleotide variant Sandhoff disease [RCV003504012] Chr5:74718373 [GRCh38]
Chr5:74014198 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.729T>C (p.Ser243=) single nucleotide variant Sandhoff disease [RCV003503470] Chr5:74705278 [GRCh38]
Chr5:74001103 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1243-18A>C single nucleotide variant Sandhoff disease [RCV003880100] Chr5:74718779 [GRCh38]
Chr5:74014604 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-9T>A single nucleotide variant Sandhoff disease [RCV003503511] Chr5:74718282 [GRCh38]
Chr5:74014107 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.699T>C (p.Val233=) single nucleotide variant Sandhoff disease [RCV003503685] Chr5:74705248 [GRCh38]
Chr5:74001073 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.299+12C>T single nucleotide variant Sandhoff disease [RCV003504468] Chr5:74685571 [GRCh38]
Chr5:73981396 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+14T>A single nucleotide variant Sandhoff disease [RCV003503635] Chr5:74720761 [GRCh38]
Chr5:74016586 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.771+20C>G single nucleotide variant Sandhoff disease [RCV003503803] Chr5:74705340 [GRCh38]
Chr5:74001165 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.267C>T (p.Pro89=) single nucleotide variant Sandhoff disease [RCV003503877] Chr5:74685527 [GRCh38]
Chr5:73981352 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.535_538del (p.Val179fs) deletion Sandhoff disease [RCV003503918] Chr5:74696716..74696719 [GRCh38]
Chr5:73992541..73992544 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1613+11T>G single nucleotide variant Sandhoff disease [RCV003504413] Chr5:74720758 [GRCh38]
Chr5:74016583 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.299+19G>A single nucleotide variant Sandhoff disease [RCV003503851] Chr5:74685578 [GRCh38]
Chr5:73981403 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.445+16A>G single nucleotide variant Sandhoff disease [RCV003504108] Chr5:74689489 [GRCh38]
Chr5:73985314 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.511+14A>G single nucleotide variant Sandhoff disease [RCV003875158] Chr5:74693718 [GRCh38]
Chr5:73989543 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1169+18C>T single nucleotide variant Sandhoff disease [RCV003504414] Chr5:74716691 [GRCh38]
Chr5:74012516 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.669+12C>T single nucleotide variant Sandhoff disease [RCV003504372] Chr5:74697118 [GRCh38]
Chr5:73992943 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1418-18_1418-14del deletion Sandhoff disease [RCV003504310] Chr5:74720407..74720411 [GRCh38]
Chr5:74016232..74016236 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1158C>T (p.Phe386=) single nucleotide variant Sandhoff disease [RCV003502957] Chr5:74716662 [GRCh38]
Chr5:74012487 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1083-6C>G single nucleotide variant Sandhoff disease [RCV003503095] Chr5:74716581 [GRCh38]
Chr5:74012406 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.558+18_558+19del microsatellite Sandhoff disease [RCV003874808] Chr5:74696754..74696755 [GRCh38]
Chr5:73992579..73992580 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1626T>C (p.Ala542=) single nucleotide variant Sandhoff disease [RCV003502988] Chr5:74721130 [GRCh38]
Chr5:74016955 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.558+16A>T single nucleotide variant Sandhoff disease [RCV003503154] Chr5:74696755 [GRCh38]
Chr5:73992580 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1191C>T (p.Thr397=) single nucleotide variant Sandhoff disease [RCV003502882] Chr5:74718312 [GRCh38]
Chr5:74014137 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1418-21_1418-19del deletion Sandhoff disease [RCV003503432] Chr5:74720406..74720408 [GRCh38]
Chr5:74016231..74016233 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.670-14A>T single nucleotide variant Sandhoff disease [RCV003502885] Chr5:74705205 [GRCh38]
Chr5:74001030 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.441G>A (p.Glu147=) single nucleotide variant Sandhoff disease [RCV003503014] Chr5:74689469 [GRCh38]
Chr5:73985294 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-11T>G single nucleotide variant Sandhoff disease [RCV003502995] Chr5:74718280 [GRCh38]
Chr5:74014105 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.772-2A>C single nucleotide variant Sandhoff disease [RCV003503009] Chr5:74713504 [GRCh38]
Chr5:74009329 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.445+12T>G single nucleotide variant Sandhoff disease [RCV003503180] Chr5:74689485 [GRCh38]
Chr5:73985310 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.670-13T>C single nucleotide variant Sandhoff disease [RCV003503063] Chr5:74705206 [GRCh38]
Chr5:74001031 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-12T>A single nucleotide variant Sandhoff disease [RCV003503361] Chr5:74720631 [GRCh38]
Chr5:74016456 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1509-21_1509-13del deletion Sandhoff disease [RCV003503363] Chr5:74720622..74720630 [GRCh38]
Chr5:74016447..74016455 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter) single nucleotide variant Sandhoff disease [RCV003503384] Chr5:74689467 [GRCh38]
Chr5:73985292 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1489A>C (p.Asn497His) single nucleotide variant Sandhoff disease [RCV003448834] Chr5:74720499 [GRCh38]
Chr5:74016324 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.534A>G (p.Leu178=) single nucleotide variant Sandhoff disease [RCV003609401] Chr5:74696715 [GRCh38]
Chr5:73992540 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1377T>C (p.Asp459=) single nucleotide variant Sandhoff disease [RCV003609433] Chr5:74718931 [GRCh38]
Chr5:74014756 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.445+12T>C single nucleotide variant Sandhoff disease [RCV003609943] Chr5:74689485 [GRCh38]
Chr5:73985310 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1303del (p.Arg435fs) deletion Sandhoff disease [RCV003610078] Chr5:74718857 [GRCh38]
Chr5:74014682 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter) single nucleotide variant Sandhoff disease [RCV003610193] Chr5:74713627 [GRCh38]
Chr5:74009452 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.147G>A (p.Ser49=) single nucleotide variant Sandhoff disease [RCV003609994] Chr5:74685407 [GRCh38]
Chr5:73981232 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.759G>A (p.Glu253=) single nucleotide variant Sandhoff disease [RCV003609502] Chr5:74705308 [GRCh38]
Chr5:74001133 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1082+13C>A single nucleotide variant Sandhoff disease [RCV003610087] Chr5:74715703 [GRCh38]
Chr5:74011528 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-5A>C single nucleotide variant Sandhoff disease [RCV003831686] Chr5:74718286 [GRCh38]
Chr5:74014111 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-16T>A single nucleotide variant Sandhoff disease [RCV003610202] Chr5:74718275 [GRCh38]
Chr5:74014100 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr) single nucleotide variant Sandhoff disease [RCV003609961] Chr5:74720707 [GRCh38]
Chr5:74016532 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1629A>G (p.Ala543=) single nucleotide variant Sandhoff disease [RCV003610213] Chr5:74721133 [GRCh38]
Chr5:74016958 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+7_1613+21dup duplication Sandhoff disease [RCV003609518] Chr5:74720752..74720753 [GRCh38]
Chr5:74016577..74016578 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1314A>G (p.Ala438=) single nucleotide variant Sandhoff disease [RCV003609062] Chr5:74718868 [GRCh38]
Chr5:74014693 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter) single nucleotide variant Sandhoff disease [RCV003609651] Chr5:74705256 [GRCh38]
Chr5:74001081 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1170-18A>C single nucleotide variant Sandhoff disease [RCV003609726] Chr5:74718273 [GRCh38]
Chr5:74014098 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.477C>T (p.Val159=) single nucleotide variant Sandhoff disease [RCV003608919] Chr5:74693670 [GRCh38]
Chr5:73989495 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.901+8G>C single nucleotide variant Sandhoff disease [RCV003610134] Chr5:74713643 [GRCh38]
Chr5:74009468 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1082+20C>G single nucleotide variant Sandhoff disease [RCV003609428] Chr5:74715710 [GRCh38]
Chr5:74011535 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1479G>A (p.Val493=) single nucleotide variant Sandhoff disease [RCV003609504] Chr5:74720489 [GRCh38]
Chr5:74016314 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs) duplication Sandhoff disease [RCV003609864] Chr5:74720471..74720472 [GRCh38]
Chr5:74016296..74016297 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.102G>T (p.Ala34=) single nucleotide variant Sandhoff disease [RCV003609866] Chr5:74685362 [GRCh38]
Chr5:73981187 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.64C>T (p.Leu22=) single nucleotide variant Sandhoff disease [RCV003610031] Chr5:74685324 [GRCh38]
Chr5:73981149 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.711C>T (p.His237=) single nucleotide variant Sandhoff disease [RCV003609527] Chr5:74705260 [GRCh38]
Chr5:74001085 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-11del deletion Sandhoff disease [RCV003609879] Chr5:74718274 [GRCh38]
Chr5:74014099 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.630C>T (p.Ser210=) single nucleotide variant Sandhoff disease [RCV003610305] Chr5:74697067 [GRCh38]
Chr5:73992892 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.902-15A>C single nucleotide variant Sandhoff disease [RCV003609322] Chr5:74715495 [GRCh38]
Chr5:74011320 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs) microsatellite Sandhoff disease [RCV003494058] Chr5:74720486..74720487 [GRCh38]
Chr5:74016311..74016312 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.511+7T>C single nucleotide variant Sandhoff disease [RCV003609746] Chr5:74693711 [GRCh38]
Chr5:73989536 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1251G>C (p.Pro417=) single nucleotide variant Sandhoff disease [RCV003608658] Chr5:74718805 [GRCh38]
Chr5:74014630 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1365C>T (p.Ser455=) single nucleotide variant Sandhoff disease [RCV003609094] Chr5:74718919 [GRCh38]
Chr5:74014744 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs) deletion Sandhoff disease [RCV003608730] Chr5:74718842..74718848 [GRCh38]
Chr5:74014667..74014673 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.282G>A (p.Leu94=) single nucleotide variant Sandhoff disease [RCV003608735] Chr5:74685542 [GRCh38]
Chr5:73981367 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1083-12T>G single nucleotide variant Sandhoff disease [RCV003608705] Chr5:74716575 [GRCh38]
Chr5:74012400 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1169+1G>A single nucleotide variant Sandhoff disease [RCV003608832] Chr5:74716674 [GRCh38]
Chr5:74012499 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1613+13_1613+15del deletion Sandhoff disease [RCV003876405] Chr5:74720758..74720760 [GRCh38]
Chr5:74016583..74016585 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn) single nucleotide variant Sandhoff disease [RCV003494059] Chr5:74720484 [GRCh38]
Chr5:74016309 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1083-15C>A single nucleotide variant Sandhoff disease [RCV003829046] Chr5:74716572 [GRCh38]
Chr5:74012397 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1575C>T (p.Ala525=) single nucleotide variant Sandhoff disease [RCV003609009] Chr5:74720709 [GRCh38]
Chr5:74016534 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs) duplication Sandhoff disease [RCV003880834] Chr5:74713564..74713565 [GRCh38]
Chr5:74009389..74009390 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1635T>G (p.Pro545=) single nucleotide variant Sandhoff disease [RCV003608700] Chr5:74721139 [GRCh38]
Chr5:74016964 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1169+8G>A single nucleotide variant Sandhoff disease [RCV003608688] Chr5:74716681 [GRCh38]
Chr5:74012506 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1469dup (p.Glu491fs) duplication Sandhoff disease [RCV003608756] Chr5:74720475..74720476 [GRCh38]
Chr5:74016300..74016301 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1418-16A>G single nucleotide variant Sandhoff disease [RCV003609762] Chr5:74720412 [GRCh38]
Chr5:74016237 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+5_1613+10del deletion not specified [RCV003490885] Chr5:74720752..74720757 [GRCh38]
Chr5:74016577..74016582 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1243-20G>A single nucleotide variant Sandhoff disease [RCV003608802] Chr5:74718777 [GRCh38]
Chr5:74014602 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.511+10A>G single nucleotide variant Sandhoff disease [RCV003609511] Chr5:74693714 [GRCh38]
Chr5:73989539 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.300-6A>G single nucleotide variant Sandhoff disease [RCV003609344] Chr5:74689322 [GRCh38]
Chr5:73985147 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.299+18G>T single nucleotide variant Sandhoff disease [RCV003609646] Chr5:74685577 [GRCh38]
Chr5:73981402 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.772-12T>C single nucleotide variant Sandhoff disease [RCV003877002] Chr5:74713494 [GRCh38]
Chr5:74009319 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+19C>G single nucleotide variant Sandhoff disease [RCV003609052] Chr5:74720766 [GRCh38]
Chr5:74016591 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1125C>T (p.Gly375=) single nucleotide variant Sandhoff disease [RCV003609057] Chr5:74716629 [GRCh38]
Chr5:74012454 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.114G>A (p.Gln38=) single nucleotide variant Sandhoff disease [RCV003609407] Chr5:74685374 [GRCh38]
Chr5:73981199 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg) single nucleotide variant Sandhoff disease [RCV003609102] Chr5:74715533 [GRCh38]
Chr5:74011358 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.771+17G>C single nucleotide variant Sandhoff disease [RCV003609412] Chr5:74705337 [GRCh38]
Chr5:74001162 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+15_1613+16dup duplication Sandhoff disease [RCV003608720] Chr5:74720761..74720762 [GRCh38]
Chr5:74016586..74016587 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-10G>A single nucleotide variant Sandhoff disease [RCV003608726] Chr5:74718281 [GRCh38]
Chr5:74014106 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1418-15A>T single nucleotide variant Sandhoff disease [RCV003609118] Chr5:74720413 [GRCh38]
Chr5:74016238 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=) single nucleotide variant Sandhoff disease [RCV003609137] Chr5:74718904 [GRCh38]
Chr5:74014729 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1320C>T (p.Gly440=) single nucleotide variant Sandhoff disease [RCV003610534] Chr5:74718874 [GRCh38]
Chr5:74014699 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.669+16A>G single nucleotide variant Sandhoff disease [RCV003610481] Chr5:74697122 [GRCh38]
Chr5:73992947 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.771+20C>T single nucleotide variant Sandhoff disease [RCV003810634] Chr5:74705340 [GRCh38]
Chr5:74001165 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.512-18A>G single nucleotide variant Sandhoff disease [RCV003610882] Chr5:74696675 [GRCh38]
Chr5:73992500 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-17T>A single nucleotide variant Sandhoff disease [RCV003610914] Chr5:74718274 [GRCh38]
Chr5:74014099 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-6C>T single nucleotide variant Sandhoff disease [RCV003610993] Chr5:74721112 [GRCh38]
Chr5:74016937 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1508+11T>C single nucleotide variant Sandhoff disease [RCV003610945] Chr5:74720529 [GRCh38]
Chr5:74016354 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+19C>T single nucleotide variant Sandhoff disease [RCV003850896] Chr5:74720766 [GRCh38]
Chr5:74016591 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-19_1614-18del deletion Sandhoff disease [RCV003833001] Chr5:74721098..74721099 [GRCh38]
Chr5:74016923..74016924 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1617T>A (p.Arg539=) single nucleotide variant Sandhoff disease [RCV003610425] Chr5:74721121 [GRCh38]
Chr5:74016946 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs) insertion Sandhoff disease [RCV003610537] Chr5:74718962..74718963 [GRCh38]
Chr5:74014787..74014788 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.299+17C>G single nucleotide variant Sandhoff disease [RCV003610620] Chr5:74685576 [GRCh38]
Chr5:73981401 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.559-18A>G single nucleotide variant Sandhoff disease [RCV003610731] Chr5:74696978 [GRCh38]
Chr5:73992803 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1170-18A>T single nucleotide variant Sandhoff disease [RCV003610783] Chr5:74718273 [GRCh38]
Chr5:74014098 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1613+8A>C single nucleotide variant Sandhoff disease [RCV003610400] Chr5:74720755 [GRCh38]
Chr5:74016580 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.445+14C>T single nucleotide variant Sandhoff disease [RCV003610488] Chr5:74689487 [GRCh38]
Chr5:73985312 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.446-21_446-14del deletion Sandhoff disease [RCV003610573] Chr5:74693618..74693625 [GRCh38]
Chr5:73989443..73989450 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1508+15T>C single nucleotide variant Sandhoff disease [RCV003610575] Chr5:74720533 [GRCh38]
Chr5:74016358 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.72G>A (p.Ala24=) single nucleotide variant Sandhoff disease [RCV003851617] Chr5:74685332 [GRCh38]
Chr5:73981157 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1418-15A>G single nucleotide variant Sandhoff disease [RCV003610939] Chr5:74720413 [GRCh38]
Chr5:74016238 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.558+19T>C single nucleotide variant Sandhoff disease [RCV003610902] Chr5:74696758 [GRCh38]
Chr5:73992583 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1243-15T>C single nucleotide variant Sandhoff disease [RCV003610792] Chr5:74718782 [GRCh38]
Chr5:74014607 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1242+18T>C single nucleotide variant Sandhoff disease [RCV003610935] Chr5:74718381 [GRCh38]
Chr5:74014206 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.670-6T>C single nucleotide variant Sandhoff disease [RCV003610441] Chr5:74705213 [GRCh38]
Chr5:74001038 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.60G>A (p.Ala20=) single nucleotide variant Sandhoff disease [RCV003610447] Chr5:74685320 [GRCh38]
Chr5:73981145 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1518A>C (p.Ala506=) single nucleotide variant Sandhoff disease [RCV003610495] Chr5:74720652 [GRCh38]
Chr5:74016477 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.299+14G>A single nucleotide variant Sandhoff disease [RCV003610815] Chr5:74685573 [GRCh38]
Chr5:73981398 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.9G>T (p.Leu3=) single nucleotide variant Sandhoff disease [RCV003610869] Chr5:74685269 [GRCh38]
Chr5:73981094 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.511+16T>G single nucleotide variant Sandhoff disease [RCV003610986] Chr5:74693720 [GRCh38]
Chr5:73989545 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.888A>C (p.Leu296=) single nucleotide variant Sandhoff disease [RCV003610396] Chr5:74713622 [GRCh38]
Chr5:74009447 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.300-18C>T single nucleotide variant Sandhoff disease [RCV003610743] Chr5:74689310 [GRCh38]
Chr5:73985135 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.264C>G (p.Gly88=) single nucleotide variant Sandhoff disease [RCV003610762] Chr5:74685524 [GRCh38]
Chr5:73981349 [GRCh37]
Chr5:5q13.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1139
Count of miRNA genes:604
Interacting mature miRNAs:646
Transcripts:ENST00000261416, ENST00000503312, ENST00000504459, ENST00000505859, ENST00000509579, ENST00000510820, ENST00000511181, ENST00000511621, ENST00000513079, ENST00000513336, ENST00000513539, ENST00000513867, ENST00000515528
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-32009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,017,101 - 74,017,225UniSTSGRCh37
Build 36574,052,857 - 74,052,981RGDNCBI36
Celera569,911,857 - 69,911,981RGD
Cytogenetic Map5q13UniSTS
HuRef569,222,042 - 69,222,166UniSTS
GeneMap99-GB4 RH Map5366.46UniSTS
Whitehead-RH Map5267.5UniSTS
NCBI RH Map5336.5UniSTS
GeneMap99-G3 RH Map52690.0UniSTS
RH92711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,001,907 - 74,001,987UniSTSGRCh37
Build 36574,037,663 - 74,037,743RGDNCBI36
Celera570,088,069 - 70,088,149UniSTS
Celera569,896,669 - 69,896,749RGD
HuRef569,206,852 - 69,206,932UniSTS
D5S1611E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,017,146 - 74,017,339UniSTSGRCh37
Build 36574,052,902 - 74,053,095RGDNCBI36
Celera569,911,902 - 69,912,095RGD
Cytogenetic Map5q13UniSTS
HuRef569,222,087 - 69,222,280UniSTS
STS-R97079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,016,940 - 74,017,062UniSTSGRCh37
Build 36574,052,696 - 74,052,818RGDNCBI36
Celera569,911,696 - 69,911,818RGD
Cytogenetic Map5q13UniSTS
HuRef569,221,881 - 69,222,003UniSTS
GeneMap99-GB4 RH Map5365.93UniSTS
NCBI RH Map5336.5UniSTS
GDB:615686  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q13UniSTS
SGC32640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,014,148 - 74,014,709UniSTSGRCh37
Celera569,908,904 - 69,909,465UniSTS
Cytogenetic Map5q13UniSTS
HuRef569,219,089 - 69,219,650UniSTS
GeneMap99-GB4 RH Map5366.14UniSTS
Whitehead-RH Map5266.2UniSTS
NCBI RH Map5337.4UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2432 2854 1701 604 1875 446 4240 1996 2999 412 1390 1605 171 1204 2673 5
Low 7 137 25 20 72 19 116 201 734 7 70 8 4 1 115 1 2
Below cutoff 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001292004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF378118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY643499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE907813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261416   ⟹   ENSP00000261416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,685,233 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000503312   ⟹   ENSP00000426384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,716,629 - 74,722,616 (+)Ensembl
RefSeq Acc Id: ENST00000504459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,713,538 - 74,720,836 (+)Ensembl
RefSeq Acc Id: ENST00000505859   ⟹   ENSP00000424550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,720,488 - 74,722,647 (+)Ensembl
RefSeq Acc Id: ENST00000509579   ⟹   ENSP00000424939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,719,989 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000510820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,693,475 - 74,705,257 (+)Ensembl
RefSeq Acc Id: ENST00000511181   ⟹   ENSP00000426285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,640,023 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000511621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,715,646 - 74,716,829 (+)Ensembl
RefSeq Acc Id: ENST00000513079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,685,196 - 74,706,168 (+)Ensembl
RefSeq Acc Id: ENST00000513336   ⟹   ENSP00000423713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,715,586 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000513539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,718,291 - 74,721,287 (+)Ensembl
RefSeq Acc Id: ENST00000513867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,721,057 - 74,722,629 (+)Ensembl
RefSeq Acc Id: ENST00000515528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl574,685,206 - 74,689,849 (+)Ensembl
RefSeq Acc Id: NM_000521   ⟹   NP_000512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,685,233 - 74,721,288 (+)NCBI
GRCh37573,935,547 - 74,017,113 (+)NCBI
Build 36574,016,767 - 74,052,869 (+)NCBI Archive
HuRef569,185,979 - 69,222,054 (+)ENTREZGENE
CHM1_1573,413,670 - 73,449,974 (+)NCBI
T2T-CHM13v2.0575,166,158 - 75,202,190 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001292004   ⟹   NP_001278933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,640,023 - 74,721,288 (+)NCBI
CHM1_1573,368,412 - 73,449,974 (+)NCBI
T2T-CHM13v2.0575,120,988 - 75,202,190 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000512   ⟸   NM_000521
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P07686 (UniProtKB/Swiss-Prot),   A0A024RAJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278933   ⟸   NM_001292004
- Peptide Label: isoform 2
- UniProtKB: Q5URX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000426384   ⟸   ENST00000503312
RefSeq Acc Id: ENSP00000424550   ⟸   ENST00000505859
RefSeq Acc Id: ENSP00000424939   ⟸   ENST00000509579
RefSeq Acc Id: ENSP00000426285   ⟸   ENST00000511181
RefSeq Acc Id: ENSP00000261416   ⟸   ENST00000261416
RefSeq Acc Id: ENSP00000423713   ⟸   ENST00000513336
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07686-F1-model_v2 AlphaFold P07686 1-556 view protein structure

Promoters
RGD ID:6803245
Promoter ID:HG_KWN:50469
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000521,   UC003KDE.2,   UC010IZH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36574,016,609 - 74,017,109 (+)MPROMDB
RGD ID:6853110
Promoter ID:EP74376
Type:initiation region
Name:HS_HEXB
Description:Hexosaminidase B (beta polypeptide).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36574,016,831 - 74,016,891EPD
RGD ID:6869876
Promoter ID:EPDNEW_H8103
Type:initiation region
Name:HEXB_1
Description:hexosaminidase subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,685,233 - 74,685,293EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4879 AgrOrtholog
COSMIC HEXB COSMIC
Ensembl Genes ENSG00000049860 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261416 ENTREZGENE
  ENST00000261416.12 UniProtKB/Swiss-Prot
  ENST00000503312.5 UniProtKB/TrEMBL
  ENST00000505859.1 UniProtKB/TrEMBL
  ENST00000509579.1 UniProtKB/TrEMBL
  ENST00000511181 ENTREZGENE
  ENST00000511181.5 UniProtKB/TrEMBL
  ENST00000513336.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.379.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000049860 GTEx
HGNC ID HGNC:4879 ENTREZGENE
Human Proteome Map HEXB Human Proteome Map
InterPro Beta_hexosaminidase_sua/sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_20_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hex-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEX_eukaryotic_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3074 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3074 ENTREZGENE
OMIM 606873 OMIM
PANTHER BETA-HEXOSAMINIDASE SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycohydro_20b2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29257 PharmGKB
PIRSF B-hxosamndse_ab_euk UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
PRINTS GLHYDRLASE20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55545 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAJ6 ENTREZGENE, UniProtKB/TrEMBL
  D6REQ8_HUMAN UniProtKB/TrEMBL
  H0Y9B6_HUMAN UniProtKB/TrEMBL
  H0Y9M3_HUMAN UniProtKB/TrEMBL
  H0YA83_HUMAN UniProtKB/TrEMBL
  HEXB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5URX0 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 HEXB  hexosaminidase subunit beta    hexosaminidase B (beta polypeptide)  Symbol and/or name change 5135510 APPROVED