ASAH1 (N-acylsphingosine amidohydrolase 1) - Rat Genome Database

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Gene: ASAH1 (N-acylsphingosine amidohydrolase 1) Homo sapiens
Analyze
Symbol: ASAH1
Name: N-acylsphingosine amidohydrolase 1
RGD ID: 734135
HGNC Page HGNC:735
Description: Enables N-acylsphingosine amidohydrolase activity; nuclear receptor binding activity; and transcription corepressor activity. Involved in keratinocyte differentiation; regulation of steroid biosynthetic process; and sphingolipid metabolic process. Located in extracellular space; lysosome; and nucleus. Implicated in Farber lipogranulomatosis; sphingolipidosis; and spinal muscular atrophy with progressive myoclonic epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC; ACDase; acid CDase; acid ceramidase; acylsphingosine deacylase; ASAH; FLJ21558; FLJ22079; glycosylceramide deacylase; N-acylethanolamine hydrolase ASAH1; n-acylsphingosine amidohydrolase (acid ceramidase); N-acylsphingosine amidohydrolase (acid ceramidase) 1; PHP; PHP32; putative 32 kDa heart protein; SMAPME
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38818,055,992 - 18,084,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl818,055,992 - 18,084,998 (-)EnsemblGRCh38hg38GRCh38
GRCh37817,913,501 - 17,942,470 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,958,214 - 17,986,787 (-)NCBINCBI36Build 36hg18NCBI36
Build 34817,958,220 - 17,985,900NCBI
Celera816,879,836 - 16,908,397 (-)NCBICelera
Cytogenetic Map8p22NCBI
HuRef816,458,203 - 16,486,822 (-)NCBIHuRef
CHM1_1818,115,374 - 18,143,960 (-)NCBICHM1_1
T2T-CHM13v2.0818,323,470 - 18,352,414 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetamide  (ISO)
acrolein  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amiodarone  (EXP,ISO)
amitriptyline  (EXP)
ammonium chloride  (ISO)
ampicillin  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-carotene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpromazine  (EXP)
cisplatin  (EXP)
clarithromycin  (EXP)
clofibrate  (ISO)
clozapine  (EXP)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
disopyramide  (EXP)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
erythromycin A  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fenamidone  (ISO)
fenfluramine  (EXP)
flavonoids  (ISO)
flecainide  (EXP)
fluoxetine  (EXP)
folic acid  (ISO)
gamma-linolenic acid  (EXP)
genistein  (EXP)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
imipramine  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
metronidazole  (ISO)
mitomycin C  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
neomycin  (ISO)
nickel sulfate  (EXP)
ofloxacin  (EXP)
ouabain  (EXP)
ozone  (EXP,ISO)
p-toluidine  (ISO)
paracetamol  (EXP)
perhexiline  (EXP)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
propiconazole  (ISO)
protein kinase inhibitor  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sertraline  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sotalol  (EXP)
sulindac sulfide  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thioridazine  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
Yessotoxin  (EXP)
zearalenone  (EXP)
zimeldine  (EXP)

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

Human Phenotype
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal conjunctiva morphology  (IAGP)
Abnormal epiglottis morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal larynx morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal skeletal morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the knee  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the wrist  (IAGP)
Anemia  (IAGP)
Areflexia  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ascites  (IAGP)
Atelectasis  (IAGP)
Atonic seizure  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Brain atrophy  (IAGP)
Cherry red spot of the macula  (IAGP)
Childhood onset  (IAGP)
Chronic diarrhea  (IAGP)
Clumsiness  (IAGP)
CNS foam cells  (IAGP)
Corneal opacity  (IAGP)
Decreased acid ceramidase activity  (IAGP)
Degeneration of anterior horn cells  (IAGP)
Dementia  (IAGP)
Developmental regression  (IAGP)
Diffuse reticular or finely nodular infiltrations  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
EMG: chronic denervation signs  (IAGP)
Eyelid myoclonus  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal akinesia sequence  (IAGP)
Flexion contracture  (IAGP)
Frequent falls  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Hepatic failure  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High-frequency sensorineural hearing impairment  (IAGP)
Hoarse cry  (IAGP)
Hoarse voice  (IAGP)
Hydrops fetalis  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intrahepatic cholestasis with episodic jaundice  (IAGP)
Irritability  (IAGP)
Joint swelling  (IAGP)
Juvenile onset  (IAGP)
Laryngeal stridor  (IAGP)
Limb myoclonus  (IAGP)
Limitation of knee mobility  (IAGP)
Lipogranulomatosis  (IAGP)
Loss of voice  (IAGP)
Lower limb muscle weakness  (IAGP)
Lymphadenopathy  (IAGP)
Macular degeneration  (IAGP)
Mental deterioration  (IAGP)
Motor delay  (IAGP)
Mutism  (IAGP)
Myoclonic status epilepticus  (IAGP)
Myoclonus  (IAGP)
Nodular pattern on pulmonary HRCT  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Osteolysis involving bones of the feet  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Osteoporosis  (IAGP)
Paraparesis  (IAGP)
Periarticular subcutaneous nodules  (IAGP)
Progressive  (IAGP)
Progressive distal muscular atrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent fever  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short finger  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin nodule  (IAGP)
Spasticity  (IAGP)
Spinal muscular atrophy  (IAGP)
Splenomegaly  (IAGP)
Subcutaneous nodule  (IAGP)
Thrombocytopenia  (IAGP)
Tongue fasciculations  (IAGP)
Tremor  (IAGP)
Typical absence seizure  (IAGP)
Ulnar deviation of the wrist  (IAGP)
Visual fixation instability  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Bar J, etal., Hum Mutat 2001 Mar;17(3):199-209.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI 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
Additional References at PubMed
PMID:7744740   PMID:8125298   PMID:8889549   PMID:8955159   PMID:9838138   PMID:10610716   PMID:10959093   PMID:10974027   PMID:11451951   PMID:12477932   PMID:12638942   PMID:12754519  
PMID:12764132   PMID:12815059   PMID:14702039   PMID:15088070   PMID:15210766   PMID:15489334   PMID:15655246   PMID:16169070   PMID:16263699   PMID:16335952   PMID:16344560   PMID:16500425  
PMID:16806233   PMID:17713573   PMID:17881906   PMID:18245333   PMID:18477771   PMID:19056867   PMID:19298866   PMID:19905902   PMID:19913121   PMID:20360068   PMID:20379614   PMID:20520628  
PMID:20628086   PMID:20871013   PMID:21335555   PMID:21375364   PMID:21493710   PMID:21504271   PMID:21552555   PMID:21700700   PMID:21846728   PMID:21873635   PMID:21893389   PMID:21988832  
PMID:22079093   PMID:22261821   PMID:22268729   PMID:22322590   PMID:22515519   PMID:22703880   PMID:22927646   PMID:23376485   PMID:23423838   PMID:23518908   PMID:23533145   PMID:23602568  
PMID:23707712   PMID:23777806   PMID:23874603   PMID:24091326   PMID:24098536   PMID:24355074   PMID:25131496   PMID:25476789   PMID:25645918   PMID:25888580   PMID:26186194   PMID:26465331  
PMID:26496610   PMID:26553872   PMID:26687835   PMID:26945816   PMID:27026573   PMID:27411168   PMID:27650050   PMID:27825124   PMID:28251733   PMID:28514442   PMID:28561026   PMID:28785021  
PMID:28905881   PMID:28986522   PMID:29259036   PMID:29278706   PMID:29320752   PMID:29509190   PMID:29518574   PMID:29595935   PMID:29692406   PMID:30254208   PMID:30413652   PMID:30815900  
PMID:30988134   PMID:31505435   PMID:32111095   PMID:32409323   PMID:32449975   PMID:32569620   PMID:32627310   PMID:32687490   PMID:32706452   PMID:32814053   PMID:32875576   PMID:32941674  
PMID:33334013   PMID:33766731   PMID:33961781   PMID:34102611   PMID:35271311   PMID:35337019   PMID:35831314   PMID:35831895   PMID:36215168   PMID:36830643  


Genomics

Comparative Map Data
ASAH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38818,055,992 - 18,084,961 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl818,055,992 - 18,084,998 (-)EnsemblGRCh38hg38GRCh38
GRCh37817,913,501 - 17,942,470 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,958,214 - 17,986,787 (-)NCBINCBI36Build 36hg18NCBI36
Build 34817,958,220 - 17,985,900NCBI
Celera816,879,836 - 16,908,397 (-)NCBICelera
Cytogenetic Map8p22NCBI
HuRef816,458,203 - 16,486,822 (-)NCBIHuRef
CHM1_1818,115,374 - 18,143,960 (-)NCBICHM1_1
T2T-CHM13v2.0818,323,470 - 18,352,414 (-)NCBIT2T-CHM13v2.0
Asah1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39841,793,683 - 41,850,681 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl841,793,234 - 41,827,810 (-)EnsemblGRCm39 Ensembl
GRCm38841,340,646 - 41,397,644 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl841,340,197 - 41,374,773 (-)EnsemblGRCm38mm10GRCm38
MGSCv37842,425,997 - 42,460,051 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36842,839,482 - 42,873,444 (-)NCBIMGSCv36mm8
Celera843,964,022 - 43,997,069 (-)NCBICelera
Cytogenetic Map8A4NCBI
cM Map823.89NCBI
Asah1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81657,669,927 - 57,701,349 (+)NCBIGRCr8
mRatBN7.21650,966,404 - 50,997,827 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1650,966,229 - 51,008,233 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1656,286,045 - 56,317,559 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01659,685,411 - 59,716,841 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01654,919,980 - 54,951,496 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01653,998,604 - 54,030,006 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1653,998,560 - 54,040,836 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01653,712,315 - 53,743,717 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41654,279,253 - 54,311,084 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11654,279,327 - 54,311,158 (+)NCBI
Celera1648,861,616 - 48,893,051 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
Asah1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555521,623,738 - 1,659,086 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555521,623,263 - 1,660,285 (+)NCBIChiLan1.0ChiLan1.0
ASAH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2736,528,846 - 36,557,133 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1812,254,484 - 12,282,710 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0817,272,632 - 17,300,902 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1814,226,156 - 14,254,155 (-)NCBIpanpan1.1PanPan1.1panPan2
ASAH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11641,297,215 - 41,335,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1641,297,809 - 41,323,078 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1641,806,175 - 41,854,360 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01643,355,806 - 43,404,107 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1643,355,801 - 43,404,134 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11641,448,325 - 41,495,377 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01641,993,731 - 42,041,788 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01642,187,013 - 42,233,873 (-)NCBIUU_Cfam_GSD_1.0
Asah1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494337,949,337 - 38,005,322 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936554104,229 - 141,512 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936554104,666 - 141,761 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASAH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,712,058 - 5,758,821 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1175,712,048 - 5,749,811 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2176,296,192 - 6,333,787 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ASAH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1816,151,974 - 16,181,726 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl816,151,247 - 16,181,155 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605226,094,678 - 26,124,159 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asah1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476921,112,851 - 21,138,831 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476921,112,705 - 21,140,004 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASAH1
846 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) single nucleotide variant ASAH1-related disorders [RCV001270895]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000029199]|not provided [RCV000724837] Chr8:18075541 [GRCh38]
Chr8:17933050 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000008.11:g.(?_18051554)_(18107050_?)del deletion Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000029200] Chr8:18051554..18107050 [GRCh38]
Chr8:17909063..17964559 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.665C>A (p.Thr222Lys) single nucleotide variant Farber lipogranulomatosis [RCV000000111] Chr8:18061724 [GRCh38]
Chr8:17919233 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val) single nucleotide variant Farber lipogranulomatosis [RCV000000112]|not provided [RCV000853547] Chr8:18064501 [GRCh38]
Chr8:17922010 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) single nucleotide variant Farber lipogranulomatosis [RCV000000113] Chr8:18075559 [GRCh38]
Chr8:17933068 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.958A>G (p.Asn320Asp) single nucleotide variant Farber lipogranulomatosis [RCV000000114] Chr8:18059424 [GRCh38]
Chr8:17916933 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.544C>G (p.Leu182Val) single nucleotide variant Farber lipogranulomatosis [RCV000000115] Chr8:18062383 [GRCh38]
Chr8:17919892 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) single nucleotide variant Farber lipogranulomatosis [RCV000656521]|not provided [RCV002536315] Chr8:18061686 [GRCh38]
Chr8:17919195 [GRCh37]
Chr8:8p22
pathogenic|not provided
NM_177924.5(ASAH1):c.917+4A>G single nucleotide variant Farber lipogranulomatosis [RCV000049322] Chr8:18059568 [GRCh38]
Chr8:17917077 [GRCh37]
Chr8:8p22
pathogenic
NG_008985.1:g.14667_24138del9472 deletion Farber disease [RCV000049323]|Farber's lipogranulomatosis [RCV000049323] Chr8:18065861..18075332 [GRCh38]
Chr8:17923370..17932841 [GRCh37]
Chr8:8p22
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p22(chr8:18004389-18497384)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052755]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052755]|See cases [RCV000052755] Chr8:18004389..18497384 [GRCh38]
Chr8:17861898..18354894 [GRCh37]
Chr8:17906178..18399174 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_177924.5(ASAH1):c.77C>A (p.Pro26Gln) single nucleotide variant not provided [RCV000255868] Chr8:18083982 [GRCh38]
Chr8:17941491 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.457+4A>G single nucleotide variant Farber lipogranulomatosis [RCV001003331]|Inborn genetic diseases [RCV002549207]|not provided [RCV001553355] Chr8:18064453 [GRCh38]
Chr8:17921962 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) single nucleotide variant Farber lipogranulomatosis [RCV001728167]|not provided [RCV000171533] Chr8:18062422 [GRCh38]
Chr8:17919931 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic|no classifications from unflagged records
NM_177924.5(ASAH1):c.303+7G>A single nucleotide variant Farber lipogranulomatosis [RCV000321995]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554037]|not provided [RCV000675807]|not specified [RCV000178403] Chr8:18069785 [GRCh38]
Chr8:17927294 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) single nucleotide variant Farber lipogranulomatosis [RCV000378864]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554038]|not provided [RCV000675808]|not specified [RCV000178404] Chr8:18069818 [GRCh38]
Chr8:17927327 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_177924.5(ASAH1):c.50G>A (p.Ser17Asn) single nucleotide variant not provided [RCV001945055] Chr8:18084009 [GRCh38]
Chr8:17941518 [GRCh37]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22(chr8:18081979-18646740)x3 copy number gain See cases [RCV000137325] Chr8:18081979..18646740 [GRCh38]
Chr8:17939488..18504250 [GRCh37]
Chr8:17983768..18548530 [NCBI36]
Chr8:8p22
likely pathogenic|uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22(chr8:18081979-18436249)x1 copy number loss See cases [RCV000137819] Chr8:18081979..18436249 [GRCh38]
Chr8:17939488..18293759 [GRCh37]
Chr8:17983768..18338039 [NCBI36]
Chr8:8p22
likely benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p22(chr8:17860010-18406994)x3 copy number gain See cases [RCV000141230] Chr8:17860010..18406994 [GRCh38]
Chr8:17717519..18264504 [GRCh37]
Chr8:17761799..18308784 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p22(chr8:17714835-18141353)x1 copy number loss See cases [RCV000141957] Chr8:17714835..18141353 [GRCh38]
Chr8:17572344..17998862 [GRCh37]
Chr8:17616624..18043142 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000157604] Chr8:18059639 [GRCh38]
Chr8:17917148 [GRCh37]
Chr8:8p22
pathogenic|not provided
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) single nucleotide variant ASAH1-related disorders [RCV004551355]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000157605]|not provided [RCV000853058] Chr8:18064458 [GRCh38]
Chr8:17921967 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro) single nucleotide variant Keloid formation [RCV000515786]|Variant of unknown significance [RCV002280815]|not provided [RCV001851128] Chr8:18057568 [GRCh38]
Chr8:17915077 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8p22(chr8:17793168-18457910)x3 copy number gain Breast ductal adenocarcinoma [RCV000207316] Chr8:17793168..18457910 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_177924.5(ASAH1):c.79-50G>A single nucleotide variant Farber lipogranulomatosis [RCV001554116]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554117]|not provided [RCV001689843]|not specified [RCV000243501] Chr8:18075637 [GRCh38]
Chr8:17933146 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.79-3C>T single nucleotide variant Farber lipogranulomatosis [RCV000347182]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554115]|not provided [RCV000675812]|not specified [RCV000254136] Chr8:18075590 [GRCh38]
Chr8:17933099 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.216+46_216+47insTTA insertion not provided [RCV001675728]|not specified [RCV000244838] Chr8:18071253..18071254 [GRCh38]
Chr8:17928762..17928763 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.704-19T>C single nucleotide variant Farber lipogranulomatosis [RCV001553845]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553846]|not provided [RCV000675804]|not specified [RCV000242736] Chr8:18061477 [GRCh38]
Chr8:17918986 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.457+45A>G single nucleotide variant Farber lipogranulomatosis [RCV001553855]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553856]|not provided [RCV000837756]|not specified [RCV000250121] Chr8:18064412 [GRCh38]
Chr8:17921921 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.304-42G>A single nucleotide variant Farber lipogranulomatosis [RCV001553857]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554030]|not provided [RCV001651182]|not specified [RCV000245358] Chr8:18067340 [GRCh38]
Chr8:17924849 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) single nucleotide variant Farber lipogranulomatosis [RCV000343910]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554039]|not provided [RCV000675810]|not specified [RCV000253040] Chr8:18071302 [GRCh38]
Chr8:17928811 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) single nucleotide variant Farber lipogranulomatosis [RCV000310101]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553844]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002500901]|not provided [RCV000675803]|not specified [RCV000245912] Chr8:18061425 [GRCh38]
Chr8:18061425..18061426 [GRCh38]
Chr8:17918934 [GRCh37]
Chr8:17918934..17918935 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-21A>G single nucleotide variant Farber lipogranulomatosis [RCV001554040]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554041]|not provided [RCV000675811]|not specified [RCV000248257] Chr8:18071411 [GRCh38]
Chr8:17928920 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.211C>G (p.Pro71Ala) single nucleotide variant not provided [RCV000323916] Chr8:18071305 [GRCh38]
Chr8:17928814 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) single nucleotide variant Farber lipogranulomatosis [RCV001270068]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002489187]|not provided [RCV000487856] Chr8:18067226 [GRCh38]
Chr8:17924735 [GRCh37]
Chr8:8p22
uncertain significance
NM_004315.6(ASAH1):c.47G>C (p.Arg16Pro) single nucleotide variant not provided [RCV000488212] Chr8:18084755 [GRCh38]
Chr8:17942264 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.457+7G>A single nucleotide variant Farber lipogranulomatosis [RCV000259794]|not provided [RCV000952361] Chr8:18064450 [GRCh38]
Chr8:17921959 [GRCh37]
Chr8:8p22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177924.4(ASAH1):c.-175A>T single nucleotide variant Farber lipogranulomatosis [RCV000261812] Chr8:18084233 [GRCh38]
Chr8:17941742 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.4(ASAH1):c.-238C>T single nucleotide variant Farber lipogranulomatosis [RCV000265912]|not provided [RCV001692054] Chr8:18084296 [GRCh38]
Chr8:17941805 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*926A>C single nucleotide variant Farber lipogranulomatosis [RCV000266989]|not provided [RCV004712544] Chr8:18056608 [GRCh38]
Chr8:17914117 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*708_*711del deletion Farber lipogranulomatosis [RCV000270458] Chr8:18056823..18056826 [GRCh38]
Chr8:17914332..17914335 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.910G>C (p.Val304Leu) single nucleotide variant Farber lipogranulomatosis [RCV000271296]|not provided [RCV000949200] Chr8:18059579 [GRCh38]
Chr8:17917088 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.*686T>C single nucleotide variant Farber lipogranulomatosis [RCV000274476] Chr8:18056848 [GRCh38]
Chr8:17914357 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) single nucleotide variant ASAH1-related disorders [RCV004549826]|Childhood epilepsy with centrotemporal spikes [RCV000656011]|Farber lipogranulomatosis [RCV000275237]|Inborn genetic diseases [RCV002523650]|not provided [RCV000710620]|not specified [RCV002509374] Chr8:18062298 [GRCh38]
Chr8:17919807 [GRCh37]
Chr8:8p22
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177924.5(ASAH1):c.*200C>T single nucleotide variant Farber lipogranulomatosis [RCV000280488]|not provided [RCV001550628] Chr8:18057334 [GRCh38]
Chr8:17914843 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.361G>A (p.Ala121Thr) single nucleotide variant Farber lipogranulomatosis [RCV000283174]|not provided [RCV001507722] Chr8:18067241 [GRCh38]
Chr8:17924750 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.262G>A (p.Val88Met) single nucleotide variant Farber lipogranulomatosis [RCV000286563]|not provided [RCV001850920] Chr8:18069833 [GRCh38]
Chr8:17927342 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.132A>T (p.Arg44Ser) single nucleotide variant Farber lipogranulomatosis [RCV000290208]|not provided [RCV002523653] Chr8:18071384 [GRCh38]
Chr8:17928893 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*356C>G single nucleotide variant Farber lipogranulomatosis [RCV000296578]|not provided [RCV004707195] Chr8:18057178 [GRCh38]
Chr8:17914687 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.4(ASAH1):c.-101G>A single nucleotide variant Farber lipogranulomatosis [RCV000297005]|not provided [RCV001560351] Chr8:18084159 [GRCh38]
Chr8:17941668 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.*1103C>T single nucleotide variant Farber lipogranulomatosis [RCV000297068]|not provided [RCV004711018] Chr8:18056431 [GRCh38]
Chr8:17913940 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*933T>C single nucleotide variant Farber lipogranulomatosis [RCV000302501] Chr8:18056601 [GRCh38]
Chr8:17914110 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*176_*177del deletion Farber lipogranulomatosis [RCV000302753]|not provided [RCV004696061] Chr8:18057357..18057358 [GRCh38]
Chr8:17914866..17914867 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*738C>G single nucleotide variant Farber lipogranulomatosis [RCV000305737]|not provided [RCV004712545] Chr8:18056796 [GRCh38]
Chr8:17914305 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*124T>A single nucleotide variant Farber lipogranulomatosis [RCV000306492]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554174]|not provided [RCV001675879] Chr8:18057410 [GRCh38]
Chr8:17914919 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.-6A>G single nucleotide variant Farber lipogranulomatosis [RCV000312078]|not provided [RCV000710619] Chr8:18084064 [GRCh38]
Chr8:17941573 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.382+9C>G single nucleotide variant Farber lipogranulomatosis [RCV000317382]|not provided [RCV002058712] Chr8:18067211 [GRCh38]
Chr8:17924720 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.-219A>T single nucleotide variant Farber lipogranulomatosis [RCV000319968]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002504186] Chr8:18084277 [GRCh38]
Chr8:17941786 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.4(ASAH1):c.-247C>G single nucleotide variant Farber lipogranulomatosis [RCV000323269] Chr8:18084305 [GRCh38]
Chr8:17941814 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*695C>T single nucleotide variant Farber lipogranulomatosis [RCV000328382]|not provided [RCV004712547] Chr8:18056839 [GRCh38]
Chr8:17914348 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*501T>C single nucleotide variant Farber lipogranulomatosis [RCV000331866] Chr8:18057033 [GRCh38]
Chr8:17914542 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656012]|Farber lipogranulomatosis [RCV000332641]|Inborn genetic diseases [RCV002523651]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000709958]|not provided [RCV000853063] Chr8:18062307 [GRCh38]
Chr8:17919816 [GRCh37]
Chr8:8p22
pathogenic|uncertain significance|not provided
NM_177924.5(ASAH1):c.*334G>A single nucleotide variant Farber lipogranulomatosis [RCV000335226]|not provided [RCV004712549] Chr8:18057200 [GRCh38]
Chr8:17914709 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*1073C>T single nucleotide variant Farber lipogranulomatosis [RCV000337556]|not provided [RCV004712542] Chr8:18056461 [GRCh38]
Chr8:18056461..18056462 [GRCh38]
Chr8:17913970 [GRCh37]
Chr8:17913970..17913971 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*184T>A single nucleotide variant Farber lipogranulomatosis [RCV000337851]|not provided [RCV001595000] Chr8:18057350 [GRCh38]
Chr8:17914859 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*164T>A single nucleotide variant Farber lipogranulomatosis [RCV000341467] Chr8:18057370 [GRCh38]
Chr8:17914879 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.4(ASAH1):c.-104C>G single nucleotide variant Farber lipogranulomatosis [RCV000354341]|not provided [RCV004696062] Chr8:18084162 [GRCh38]
Chr8:17941671 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.4(ASAH1):c.-227T>G single nucleotide variant Farber lipogranulomatosis [RCV000358441]|not provided [RCV001613214] Chr8:18084285 [GRCh38]
Chr8:17941794 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*932C>T single nucleotide variant Farber lipogranulomatosis [RCV000359643]|not provided [RCV004712543] Chr8:18056602 [GRCh38]
Chr8:17914111 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*729T>C single nucleotide variant Farber lipogranulomatosis [RCV000362745]|not provided [RCV004712546] Chr8:18056805 [GRCh38]
Chr8:17914314 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) single nucleotide variant ASAH1-related disorders [RCV004549825]|Farber lipogranulomatosis [RCV000363473]|not provided [RCV000422429] Chr8:18057617 [GRCh38]
Chr8:17915126 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.704G>A (p.Gly235Asp) single nucleotide variant Farber lipogranulomatosis [RCV000367143]|not provided [RCV000853060] Chr8:18061458 [GRCh38]
Chr8:17918967 [GRCh37]
Chr8:8p22
likely pathogenic|uncertain significance
NM_177924.5(ASAH1):c.-27C>T single nucleotide variant Farber lipogranulomatosis [RCV000369130] Chr8:18084085 [GRCh38]
Chr8:17941594 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*244C>T single nucleotide variant Farber lipogranulomatosis [RCV000373567]|not provided [RCV001613212] Chr8:18057290 [GRCh38]
Chr8:17914799 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) single nucleotide variant Farber lipogranulomatosis [RCV000375398]|not provided [RCV000675805]|not specified [RCV000516525] Chr8:18067230 [GRCh38]
Chr8:17924739 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*687C>G single nucleotide variant Farber lipogranulomatosis [RCV000385260]|not provided [RCV004712548] Chr8:18056847 [GRCh38]
Chr8:17914356 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*368C>T single nucleotide variant Farber lipogranulomatosis [RCV000388557] Chr8:18057166 [GRCh38]
Chr8:17914675 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.504-4A>G single nucleotide variant Farber lipogranulomatosis [RCV000389449]|Inborn genetic diseases [RCV002523652]|not provided [RCV001289242] Chr8:18062427 [GRCh38]
Chr8:17919936 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.*961A>G single nucleotide variant Farber lipogranulomatosis [RCV000402764] Chr8:18056573 [GRCh38]
Chr8:17914082 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.-2C>G single nucleotide variant ASAH1-related disorders [RCV004549827]|Farber lipogranulomatosis [RCV000403664] Chr8:18084060 [GRCh38]
Chr8:17941569 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.*160T>C single nucleotide variant Farber lipogranulomatosis [RCV000404532]|not provided [RCV001613213] Chr8:18057374 [GRCh38]
Chr8:17914883 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.*178A>G single nucleotide variant Farber lipogranulomatosis [RCV000405405] Chr8:18057356 [GRCh38]
Chr8:17914865 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.-38C>T single nucleotide variant Farber lipogranulomatosis [RCV000405662]|not provided [RCV001553329] Chr8:18084096 [GRCh38]
Chr8:17941605 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.183A>G (p.Arg61=) single nucleotide variant Farber lipogranulomatosis [RCV000407217]|not provided [RCV002058713] Chr8:18071333 [GRCh38]
Chr8:17928842 [GRCh37]
Chr8:8p22
benign|likely benign|uncertain significance
NM_177924.5(ASAH1):c.125+211_383-1330del deletion Farber lipogranulomatosis [RCV000656522] Chr8:18065861..18075330 [GRCh38]
Chr8:17923370..17932839 [GRCh37]
Chr8:8p22
pathogenic
GRCh37/hg19 8p22(chr8:17294405-17919470)x3 copy number gain See cases [RCV000598817] Chr8:17294405..17919470 [GRCh37]
Chr8:8p22
uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) single nucleotide variant not provided [RCV000414472] Chr8:18059388 [GRCh38]
Chr8:17916897 [GRCh37]
Chr8:8p22
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3 copy number gain See cases [RCV000446821] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000679928] Chr8:18062391 [GRCh38]
Chr8:17919900 [GRCh37]
Chr8:8p22
conflicting interpretations of pathogenicity|uncertain significance
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) single nucleotide variant ASAH1-related disorders [RCV004551416]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000416939]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002502451]|not provided [RCV001861470] Chr8:18064504 [GRCh38]
Chr8:17922013 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
NM_177924.5(ASAH1):c.126-1873G>A single nucleotide variant Farber lipogranulomatosis [RCV001554113]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554114]|not provided [RCV000837595]|not specified [RCV000454518] Chr8:18073263 [GRCh38]
Chr8:17930772 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p22(chr8:17623587-18133683)x3 copy number gain See cases [RCV000510199] Chr8:17623587..18133683 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22
likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_177924.5(ASAH1):c.648+1G>C single nucleotide variant Farber lipogranulomatosis [RCV000614436]|not provided [RCV001854142] Chr8:18062278 [GRCh38]
Chr8:17919787 [GRCh37]
Chr8:8p22
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656013]|not provided [RCV000999001]|not specified [RCV002248735] Chr8:18084767 [GRCh38]
Chr8:17942276 [GRCh37]
Chr8:8p22
pathogenic|benign|likely benign|uncertain significance
NM_004315.6(ASAH1):c.-22T>C single nucleotide variant not provided [RCV000675814] Chr8:18084823 [GRCh38]
Chr8:17942332 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV000679927]|not provided [RCV002531407] Chr8:18075542 [GRCh38]
Chr8:17933051 [GRCh37]
Chr8:8p22
likely pathogenic|uncertain significance
NM_177924.5(ASAH1):c.303+21C>A single nucleotide variant Farber lipogranulomatosis [RCV001554035]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554036]|not provided [RCV000675806] Chr8:18069771 [GRCh38]
Chr8:17927280 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.258A>G (p.Thr86=) single nucleotide variant not provided [RCV000675809] Chr8:18069837 [GRCh38]
Chr8:17927346 [GRCh37]
Chr8:8p22
likely benign
NM_004315.6(ASAH1):c.107G>A (p.Ser36Asn) single nucleotide variant not provided [RCV000675813] Chr8:18084695 [GRCh38]
Chr8:17942204 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p22(chr8:17727733-18316952)x3 copy number gain not provided [RCV000682987] Chr8:17727733..18316952 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001814223]|Farber lipogranulomatosis [RCV001003303]|not provided [RCV000710617] Chr8:18059385 [GRCh38]
Chr8:17916894 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr) single nucleotide variant Farber lipogranulomatosis [RCV001164024]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002485785]|not provided [RCV000710618] Chr8:18075578 [GRCh38]
Chr8:17933087 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.66G>C (p.Gln22His) single nucleotide variant Farber lipogranulomatosis [RCV001003297] Chr8:18083993 [GRCh38]
Chr8:17941502 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) deletion ASAH1-related disorders [RCV004553550]|Farber lipogranulomatosis [RCV001003299]|not provided [RCV001860533] Chr8:18064503..18064504 [GRCh38]
Chr8:17922012..17922013 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.760A>G (p.Arg254Gly) single nucleotide variant Farber lipogranulomatosis [RCV001003307]|not provided [RCV003558631] Chr8:18061402 [GRCh38]
Chr8:17918911 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.383-10_383-6del microsatellite Farber lipogranulomatosis [RCV001003314] Chr8:18064537..18064541 [GRCh38]
Chr8:17922046..17922050 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.626G>A (p.Gly209Asp) single nucleotide variant Farber lipogranulomatosis [RCV001003315] Chr8:18062301 [GRCh38]
Chr8:17919810 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs) duplication Farber lipogranulomatosis [RCV001003316] Chr8:18071341..18071342 [GRCh38]
Chr8:17928850..17928851 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser) single nucleotide variant Farber lipogranulomatosis [RCV001003324]|not provided [RCV001784545] Chr8:18059423 [GRCh38]
Chr8:17916932 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.991G>A (p.Asp331Asn) single nucleotide variant Farber lipogranulomatosis [RCV001003325]|not provided [RCV003558632] Chr8:18059391 [GRCh38]
Chr8:17916900 [GRCh37]
Chr8:8p22
likely pathogenic|uncertain significance
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter) single nucleotide variant Farber lipogranulomatosis [RCV001003326]|not provided [RCV001860535] Chr8:18064502 [GRCh38]
Chr8:17922011 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.287TGG[1] (p.Val97del) microsatellite Farber lipogranulomatosis [RCV001003329] Chr8:18069803..18069805 [GRCh38]
Chr8:17927312..17927314 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.223_224insC (p.Val75fs) insertion Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003330] Chr8:18069871..18069872 [GRCh38]
Chr8:17927380..17927381 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.786-257C>A single nucleotide variant not provided [RCV001566732] Chr8:18059960 [GRCh38]
Chr8:17917469 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1137T>A (p.Gly379=) single nucleotide variant not provided [RCV001547540] Chr8:18057585 [GRCh38]
Chr8:17915094 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.96A>C (p.Arg32Ser) single nucleotide variant not provided [RCV001531704] Chr8:18075570 [GRCh38]
Chr8:17933079 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22(chr8:17756536-17948298)x3 copy number gain not provided [RCV000747456] Chr8:17756536..17948298 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p22(chr8:17913970-18148015)x3 copy number gain not provided [RCV000747457] Chr8:17913970..18148015 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.94A>C (p.Arg32=) single nucleotide variant not provided [RCV000915759] Chr8:18075572 [GRCh38]
Chr8:17933081 [GRCh37]
Chr8:8p22
likely benign
NM_004315.6(ASAH1):c.91A>G (p.Ile31Val) single nucleotide variant ASAH1-related disorders [RCV004551936]|not provided [RCV001585564] Chr8:18084711 [GRCh38]
Chr8:17942220 [GRCh37]
Chr8:8p22
benign|likely benign
NC_000008.11:g.18085340T>C single nucleotide variant not provided [RCV001645974] Chr8:18085340 [GRCh38]
Chr8:17942849 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.884C>T (p.Thr295Ile) single nucleotide variant not provided [RCV000853548] Chr8:18059605 [GRCh38]
Chr8:17917114 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.217-288dup duplication not provided [RCV001534441] Chr8:18070155..18070156 [GRCh38]
Chr8:17927664..17927665 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1041+19C>A single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002506691]|not provided [RCV001585149] Chr8:18059322 [GRCh38]
Chr8:17916831 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.284A>C (p.Gln95Pro) single nucleotide variant not provided [RCV001583984] Chr8:18069811 [GRCh38]
Chr8:17927320 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.217-222G>A single nucleotide variant not provided [RCV001567882] Chr8:18070100 [GRCh38]
Chr8:18070100..18070101 [GRCh38]
Chr8:17927609 [GRCh37]
Chr8:17927609..17927610 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter) single nucleotide variant ASAH1-related disorders [RCV004737997]|not provided [RCV000760836] Chr8:18071369 [GRCh38]
Chr8:17928878 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_177924.5(ASAH1):c.382+84C>A single nucleotide variant Farber lipogranulomatosis [RCV000988039]|not provided [RCV001709699] Chr8:18067136 [GRCh38]
Chr8:17924645 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.382+119_382+120insATACAGCACAGGTGCTGTATGTCTTAGATATACAGCACAGGTGCTGTATGTCTTAGAT microsatellite not provided [RCV001551807] Chr8:18067100..18067101 [GRCh38]
Chr8:17924609..17924610 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-121A>G single nucleotide variant not provided [RCV001548004] Chr8:18064652 [GRCh38]
Chr8:17922161 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.303+88G>A single nucleotide variant not provided [RCV001549960] Chr8:18069704 [GRCh38]
Chr8:17927213 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys) single nucleotide variant Farber lipogranulomatosis [RCV001163940]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002480573]|not provided [RCV001338988] Chr8:18057578 [GRCh38]
Chr8:17915087 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1079C>T (p.Thr360Ile) single nucleotide variant Farber lipogranulomatosis [RCV001163942]|not provided [RCV001859052] Chr8:18058854 [GRCh38]
Chr8:17916363 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.320A>G (p.Asn107Ser) single nucleotide variant See cases [RCV002252291]|not provided [RCV000991548] Chr8:18067282 [GRCh38]
Chr8:17924791 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.328G>A (p.Gly110Ser) single nucleotide variant not provided [RCV000945989] Chr8:18067274 [GRCh38]
Chr8:17924783 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.649-6T>C single nucleotide variant not provided [RCV000926099] Chr8:18061746 [GRCh38]
Chr8:17919255 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.381A>G (p.Leu127=) single nucleotide variant not provided [RCV000878454] Chr8:18067221 [GRCh38]
Chr8:17924730 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1143C>T (p.Phe381=) single nucleotide variant not provided [RCV000922649] Chr8:18057579 [GRCh38]
Chr8:17915088 [GRCh37]
Chr8:8p22
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177924.5(ASAH1):c.592G>A (p.Val198Ile) single nucleotide variant Farber lipogranulomatosis [RCV000791000]|not provided [RCV001206921] Chr8:18062335 [GRCh38]
Chr8:17919844 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.458-8T>G single nucleotide variant not provided [RCV000883854] Chr8:18063238 [GRCh38]
Chr8:17920747 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855490]|not provided [RCV002536200] Chr8:18063197 [GRCh38]
Chr8:17920706 [GRCh37]
Chr8:8p22
likely pathogenic|uncertain significance
NM_177924.5(ASAH1):c.216+120G>C single nucleotide variant not provided [RCV000839344] Chr8:18071180 [GRCh38]
Chr8:17928689 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.216+137A>G single nucleotide variant not provided [RCV000839345] Chr8:18071163 [GRCh38]
Chr8:17928672 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.458-44A>G single nucleotide variant not provided [RCV000839346] Chr8:18063274 [GRCh38]
Chr8:17920783 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.458-41T>C single nucleotide variant not provided [RCV000839347] Chr8:18063271 [GRCh38]
Chr8:17920780 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.125+2051T>C single nucleotide variant not provided [RCV000837594] Chr8:18073490 [GRCh38]
Chr8:17930999 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.217-129T>C single nucleotide variant not provided [RCV000837602] Chr8:18070007 [GRCh38]
Chr8:17927516 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.303+53T>G single nucleotide variant Farber lipogranulomatosis [RCV001554033]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554034]|not provided [RCV000837603] Chr8:18069739 [GRCh38]
Chr8:17927248 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) single nucleotide variant Farber lipogranulomatosis [RCV001164025]|Fetal akinesia deformation sequence 1 [RCV000855489]|not provided [RCV000983934] Chr8:18075578 [GRCh38]
Chr8:17933087 [GRCh37]
Chr8:8p22
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_177924.5(ASAH1):c.303+219A>G single nucleotide variant not provided [RCV000837619] Chr8:18069573 [GRCh38]
Chr8:17927082 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.303+240C>A single nucleotide variant not provided [RCV000837620] Chr8:18069552 [GRCh38]
Chr8:17927061 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1042-153G>A single nucleotide variant not provided [RCV000837622] Chr8:18059044 [GRCh38]
Chr8:17916553 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1098+120T>G single nucleotide variant Farber lipogranulomatosis [RCV001554175]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553843]|not provided [RCV000837623] Chr8:18058715 [GRCh38]
Chr8:17916224 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-215C>A single nucleotide variant not provided [RCV000837755] Chr8:18071605 [GRCh38]
Chr8:17929114 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.458-68T>C single nucleotide variant Farber lipogranulomatosis [RCV001553851]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553852]|not provided [RCV000837758] Chr8:18063298 [GRCh38]
Chr8:17920807 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.125+1G>A single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003311]|not provided [RCV000820153] Chr8:18075540 [GRCh38]
Chr8:17933049 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.382+91_382+119dup duplication not provided [RCV000831935] Chr8:18067100..18067101 [GRCh38]
Chr8:17924609..17924610 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.457+293C>A single nucleotide variant not provided [RCV000843446] Chr8:18064164 [GRCh38]
Chr8:17921673 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.704-31C>T single nucleotide variant not provided [RCV000838640] Chr8:18061489 [GRCh38]
Chr8:17918998 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-241A>G single nucleotide variant not provided [RCV000837768] Chr8:18059944 [GRCh38]
Chr8:17917453 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p22(chr8:17801363-17925782)x3 copy number gain not provided [RCV000849915] Chr8:17801363..17925782 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p22(chr8:17575940-18443131)x3 copy number gain not provided [RCV000848233] Chr8:17575940..18443131 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.11:g.18075590G>A single nucleotide variant not provided [RCV000837593] Chr8:17933099 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.303+117T>C single nucleotide variant Farber lipogranulomatosis [RCV001554031]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554032]|not provided [RCV000837604] Chr8:18069675 [GRCh38]
Chr8:17927184 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*794A>G single nucleotide variant Farber lipogranulomatosis [RCV001163843] Chr8:18056740 [GRCh38]
Chr8:17914249 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*25G>A single nucleotide variant Farber lipogranulomatosis [RCV001163938] Chr8:18057509 [GRCh38]
Chr8:17915018 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.11:g.(?_18075521)_(18084821_?)del deletion not provided [RCV000800674] Chr8:18075521..18084821 [GRCh38]
Chr8:17933030..17942330 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.125+1959G>A single nucleotide variant not provided [RCV000831241] Chr8:18073582 [GRCh38]
Chr8:17931091 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-1835G>T single nucleotide variant not provided [RCV000837596] Chr8:18073225 [GRCh38]
Chr8:17930734 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-1828C>T single nucleotide variant not provided [RCV000837597] Chr8:18073218 [GRCh38]
Chr8:17930727 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-1706T>G single nucleotide variant not provided [RCV000837598] Chr8:18073096 [GRCh38]
Chr8:17930605 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-100C>T single nucleotide variant Farber lipogranulomatosis [RCV001554042]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001554112]|not provided [RCV000837599] Chr8:18071490 [GRCh38]
Chr8:17928999 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.216+183T>C single nucleotide variant not provided [RCV000837600] Chr8:18071117 [GRCh38]
Chr8:17928626 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.217-247A>G single nucleotide variant not provided [RCV000837601] Chr8:18070125 [GRCh38]
Chr8:17927634 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.928A>C (p.Lys310Gln) single nucleotide variant not provided [RCV000893225] Chr8:18059454 [GRCh38]
Chr8:17916963 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.721C>T (p.Leu241=) single nucleotide variant not provided [RCV000960788] Chr8:18061441 [GRCh38]
Chr8:17918950 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-199del deletion not provided [RCV000837621] Chr8:18059090 [GRCh38]
Chr8:17916599 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1006C>G (p.Pro336Ala) single nucleotide variant Farber lipogranulomatosis [RCV001163944]|not provided [RCV001882525] Chr8:18059376 [GRCh38]
Chr8:17916885 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.261C>T (p.Phe87=) single nucleotide variant Farber lipogranulomatosis [RCV001164022]|not provided [RCV002067998] Chr8:18069834 [GRCh38]
Chr8:17927343 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.129C>T (p.Tyr43=) single nucleotide variant Farber lipogranulomatosis [RCV001164023] Chr8:18071387 [GRCh38]
Chr8:17928896 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.53G>C (p.Cys18Ser) single nucleotide variant not provided [RCV000999000] Chr8:18084006 [GRCh38]
Chr8:17941515 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.216+46TATTT[3] microsatellite Farber lipogranulomatosis [RCV000988040]|not provided [RCV001683707] Chr8:18071244..18071245 [GRCh38]
Chr8:17928753..17928754 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.229G>C (p.Val77Leu) single nucleotide variant not provided [RCV000991547] Chr8:18069866 [GRCh38]
Chr8:17927375 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.622G>A (p.Val208Met) single nucleotide variant not provided [RCV000991549] Chr8:18062305 [GRCh38]
Chr8:17919814 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.918-2A>G single nucleotide variant not provided [RCV001218900] Chr8:18059466 [GRCh38]
Chr8:17916975 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.142C>T (p.Pro48Ser) single nucleotide variant not provided [RCV000853059] Chr8:18071374 [GRCh38]
Chr8:17928883 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) single nucleotide variant ASAH1-related disorders [RCV004549916]|Farber lipogranulomatosis [RCV001159010]|not provided [RCV000853062] Chr8:18059378 [GRCh38]
Chr8:17916887 [GRCh37]
Chr8:8p22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177924.5(ASAH1):c.1156C>T (p.Arg386Trp) single nucleotide variant not provided [RCV000853061] Chr8:18057566 [GRCh38]
Chr8:17915075 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*617T>A single nucleotide variant Farber lipogranulomatosis [RCV001158920] Chr8:18056917 [GRCh38]
Chr8:17914426 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*459T>C single nucleotide variant Farber lipogranulomatosis [RCV001158921] Chr8:18057075 [GRCh38]
Chr8:17914584 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*373C>T single nucleotide variant Farber lipogranulomatosis [RCV001158922] Chr8:18057161 [GRCh38]
Chr8:17914670 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.967C>T (p.Arg323Cys) single nucleotide variant Farber lipogranulomatosis [RCV001159011]|not provided [RCV001859033] Chr8:18059415 [GRCh38]
Chr8:17916924 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.898G>A (p.Glu300Lys) single nucleotide variant Farber lipogranulomatosis [RCV001159012]|not provided [RCV001882502] Chr8:18059591 [GRCh38]
Chr8:17917100 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.-23G>C single nucleotide variant Farber lipogranulomatosis [RCV001159117] Chr8:18084081 [GRCh38]
Chr8:17941590 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*353C>T single nucleotide variant Farber lipogranulomatosis [RCV001160258] Chr8:18057181 [GRCh38]
Chr8:17914690 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001095795]|not provided [RCV001856297] Chr8:18075548 [GRCh38]
Chr8:17933057 [GRCh37]
Chr8:8p22
likely pathogenic|uncertain significance
NM_177924.5(ASAH1):c.154A>G (p.Ile52Val) single nucleotide variant not provided [RCV003104928] Chr8:18071362 [GRCh38]
Chr8:17928871 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.644A>T (p.Lys215Ile) single nucleotide variant not provided [RCV003106476]|not specified [RCV003155524] Chr8:18062283 [GRCh38]
Chr8:17919792 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786-281G>A single nucleotide variant not provided [RCV001568496] Chr8:18059984 [GRCh38]
Chr8:17917493 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+138T>C single nucleotide variant not provided [RCV001545279] Chr8:18064319 [GRCh38]
Chr8:17921828 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-81T>A single nucleotide variant Farber lipogranulomatosis [RCV001553853]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553854]|not provided [RCV001615303] Chr8:18063311 [GRCh38]
Chr8:17920820 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.504-176C>G single nucleotide variant not provided [RCV001577141] Chr8:18062599 [GRCh38]
Chr8:17920108 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+143A>G single nucleotide variant not provided [RCV001638620] Chr8:18061234 [GRCh38]
Chr8:17918743 [GRCh37]
Chr8:8p22
benign
NM_004315.6(ASAH1):c.126+51T>C single nucleotide variant not provided [RCV001723066] Chr8:18084625 [GRCh38]
Chr8:17942134 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.457+156C>G single nucleotide variant not provided [RCV001534748] Chr8:18064301 [GRCh38]
Chr8:17921810 [GRCh37]
Chr8:8p22
benign
NM_004315.6(ASAH1):c.126+264C>G single nucleotide variant not provided [RCV001638379] Chr8:18084412 [GRCh38]
Chr8:17941921 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.217-278_217-277insG insertion not provided [RCV001589612] Chr8:18070155..18070156 [GRCh38]
Chr8:17927664..17927665 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-67C>T single nucleotide variant not provided [RCV001556818] Chr8:18064598 [GRCh38]
Chr8:17922107 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78+301C>G single nucleotide variant not provided [RCV001649662] Chr8:18083680 [GRCh38]
Chr8:17941189 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.383-213G>A single nucleotide variant not provided [RCV001590172] Chr8:18064744 [GRCh38]
Chr8:17922253 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78+75G>A single nucleotide variant not provided [RCV001654580] Chr8:18083906 [GRCh38]
Chr8:17941415 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.786-150C>G single nucleotide variant not provided [RCV001577866] Chr8:18059853 [GRCh38]
Chr8:17917362 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-247G>A single nucleotide variant not provided [RCV001558185] Chr8:18064778 [GRCh38]
Chr8:17922287 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.304-277A>G single nucleotide variant not provided [RCV001545944] Chr8:18067575 [GRCh38]
Chr8:17925084 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.649-191C>G single nucleotide variant not provided [RCV001575491] Chr8:18061931 [GRCh38]
Chr8:17919440 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.217-297C>T single nucleotide variant not provided [RCV001565789] Chr8:18070175 [GRCh38]
Chr8:17927684 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+79dup duplication not provided [RCV001609667] Chr8:18071211..18071212 [GRCh38]
Chr8:17928720..17928721 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.360C>T (p.Ala120=) single nucleotide variant not provided [RCV000951556] Chr8:18067242 [GRCh38]
Chr8:17924751 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.546A>G (p.Leu182=) single nucleotide variant not provided [RCV000974701] Chr8:18062381 [GRCh38]
Chr8:17919890 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.666A>G (p.Thr222=) single nucleotide variant Farber lipogranulomatosis [RCV001160353]|not provided [RCV000951609] Chr8:18061723 [GRCh38]
Chr8:17919232 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.649-8T>C single nucleotide variant Farber lipogranulomatosis [RCV001160354]|not provided [RCV000951610] Chr8:18061748 [GRCh38]
Chr8:17919257 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1033A>G (p.Ser345Gly) single nucleotide variant not provided [RCV000853064] Chr8:18059349 [GRCh38]
Chr8:17916858 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.382+10A>G single nucleotide variant Farber lipogranulomatosis [RCV001162014]|not provided [RCV000951860]|not specified [RCV001700519] Chr8:18067210 [GRCh38]
Chr8:17924719 [GRCh37]
Chr8:8p22
benign|likely benign|uncertain significance
NM_177924.5(ASAH1):c.24C>G (p.Ala8=) single nucleotide variant not provided [RCV000960810] Chr8:18084035 [GRCh38]
Chr8:17941544 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.459T>A (p.Gly153=) single nucleotide variant not provided [RCV000877975] Chr8:18063229 [GRCh38]
Chr8:17920738 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+9T>C single nucleotide variant not provided [RCV000952007] Chr8:18061368 [GRCh38]
Chr8:17918877 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.591T>C (p.Thr197=) single nucleotide variant not provided [RCV000908297] Chr8:18062336 [GRCh38]
Chr8:17919845 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.*885T>C single nucleotide variant Farber lipogranulomatosis [RCV001163842] Chr8:18056649 [GRCh38]
Chr8:17914158 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1107A>T (p.Val369=) single nucleotide variant Farber lipogranulomatosis [RCV001163941]|not provided [RCV002067995] Chr8:18057615 [GRCh38]
Chr8:17915124 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.648+5G>C single nucleotide variant Farber lipogranulomatosis [RCV001160355]|not provided [RCV001208922] Chr8:18062274 [GRCh38]
Chr8:17919783 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.559G>A (p.Val187Met) single nucleotide variant Farber lipogranulomatosis [RCV001160356]|not provided [RCV002558518] Chr8:18062368 [GRCh38]
Chr8:17919877 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.601G>T (p.Ala201Ser) single nucleotide variant not provided [RCV001216858] Chr8:18062326 [GRCh38]
Chr8:17919835 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.785+273C>T single nucleotide variant not provided [RCV001537349] Chr8:18061104 [GRCh38]
Chr8:17918613 [GRCh37]
Chr8:8p22
likely benign
NM_004315.6(ASAH1):c.126+146G>A single nucleotide variant not provided [RCV001636508] Chr8:18084530 [GRCh38]
Chr8:17942039 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.304-59A>G single nucleotide variant not provided [RCV001545514] Chr8:18067357 [GRCh38]
Chr8:17924866 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.503+71G>A single nucleotide variant Farber lipogranulomatosis [RCV001553849]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553850]|not provided [RCV001647425] Chr8:18063114 [GRCh38]
Chr8:17920623 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.503+210T>G single nucleotide variant not provided [RCV001545861] Chr8:18062975 [GRCh38]
Chr8:17920484 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+108G>A single nucleotide variant not provided [RCV001548126] Chr8:18064349 [GRCh38]
Chr8:17921858 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-255_458-254dup duplication not provided [RCV001563267] Chr8:18063470..18063471 [GRCh38]
Chr8:17920979..17920980 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+87_382+116del deletion not provided [RCV001595422] Chr8:18067104..18067133 [GRCh38]
Chr8:17924613..17924642 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.704-64G>A single nucleotide variant not provided [RCV001637611] Chr8:18061522 [GRCh38]
Chr8:17919031 [GRCh37]
Chr8:8p22
benign
NC_000008.11:g.18085242G>T single nucleotide variant not provided [RCV001552581] Chr8:18085242 [GRCh38]
Chr8:17942751 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.303+169T>C single nucleotide variant not provided [RCV001635547] Chr8:18069623 [GRCh38]
Chr8:17927132 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.79-40A>G single nucleotide variant not provided [RCV001586855] Chr8:18075627 [GRCh38]
Chr8:17933136 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.504-115T>C single nucleotide variant not provided [RCV001560108] Chr8:18062538 [GRCh38]
Chr8:17920047 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-58A>G single nucleotide variant not provided [RCV001596178] Chr8:18057681 [GRCh38]
Chr8:17915190 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.*171del deletion not provided [RCV001676531] Chr8:18057363 [GRCh38]
Chr8:17914872 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.785+160C>T single nucleotide variant not provided [RCV001596695] Chr8:18061217 [GRCh38]
Chr8:17918726 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.457+93C>G single nucleotide variant not provided [RCV001569245] Chr8:18064364 [GRCh38]
Chr8:17921873 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+98C>T single nucleotide variant not provided [RCV001717257] Chr8:18071202 [GRCh38]
Chr8:17928711 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1098+36G>A single nucleotide variant not provided [RCV001596643] Chr8:18058799 [GRCh38]
Chr8:17916308 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.648+220C>T single nucleotide variant not provided [RCV001538451] Chr8:18062059 [GRCh38]
Chr8:17919568 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.458-256_458-255insCA insertion not provided [RCV001536644] Chr8:18063485..18063486 [GRCh38]
Chr8:17920994..17920995 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.785+118G>A single nucleotide variant not provided [RCV001536852] Chr8:18061259 [GRCh38]
Chr8:17918768 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1041+133G>A single nucleotide variant not provided [RCV001589696] Chr8:18059208 [GRCh38]
Chr8:17916717 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-80_383-73del deletion not provided [RCV001687850] Chr8:18064604..18064611 [GRCh38]
Chr8:17922113..17922120 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1099-167A>G single nucleotide variant not provided [RCV001723065] Chr8:18057790 [GRCh38]
Chr8:17915299 [GRCh37]
Chr8:8p22
benign
NM_177924.4(ASAH1):c.-243A>C single nucleotide variant not provided [RCV001565093] Chr8:18084301 [GRCh38]
Chr8:17941810 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+149C>T single nucleotide variant not provided [RCV001641609] Chr8:18067071 [GRCh38]
Chr8:17924580 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.79-149A>G single nucleotide variant not provided [RCV001714424] Chr8:18075736 [GRCh38]
Chr8:17933245 [GRCh37]
Chr8:8p22
benign
NC_000008.11:g.18085219_18085221del deletion not provided [RCV001613446] Chr8:18085215..18085217 [GRCh38]
Chr8:17942724..17942726 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.383-288C>G single nucleotide variant not provided [RCV001587660] Chr8:18064819 [GRCh38]
Chr8:17922328 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.504-145A>T single nucleotide variant not provided [RCV001661199] Chr8:18062568 [GRCh38]
Chr8:17920077 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.918-36T>G single nucleotide variant not provided [RCV001669627] Chr8:18059500 [GRCh38]
Chr8:17917009 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.78+253G>C single nucleotide variant not provided [RCV001698863] Chr8:18083728 [GRCh38]
Chr8:17941237 [GRCh37]
Chr8:8p22
benign
NM_004315.6(ASAH1):c.126+164A>G single nucleotide variant not provided [RCV001718377] Chr8:18084512 [GRCh38]
Chr8:17942021 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.216+73G>T single nucleotide variant not provided [RCV001637928] Chr8:18071227 [GRCh38]
Chr8:17928736 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*177del deletion not provided [RCV001658464] Chr8:18057357 [GRCh38]
Chr8:17914866 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.458-201C>T single nucleotide variant not provided [RCV001687668] Chr8:18063431 [GRCh38]
Chr8:17920940 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.649-221T>G single nucleotide variant not provided [RCV001687816] Chr8:18061961 [GRCh38]
Chr8:17919470 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu) single nucleotide variant Farber lipogranulomatosis [RCV001160352]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002483908]|not provided [RCV001343987] Chr8:18061444 [GRCh38]
Chr8:17918953 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*103G>A single nucleotide variant Farber lipogranulomatosis [RCV001163631]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002505743] Chr8:18057431 [GRCh38]
Chr8:17914940 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg) single nucleotide variant Farber lipogranulomatosis [RCV001003328]|not provided [RCV001860537] Chr8:18058848 [GRCh38]
Chr8:17916357 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?) duplication Farber lipogranulomatosis [RCV001003335] Chr8:18057535..18057536 [GRCh38]
Chr8:17915044..17915045 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1098+1G>T single nucleotide variant Farber lipogranulomatosis [RCV001003337]|not provided [RCV002549208] Chr8:18058834 [GRCh38]
Chr8:17916343 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.771G>T (p.Leu257=) single nucleotide variant Farber lipogranulomatosis [RCV001159014]|not provided [RCV002558403] Chr8:18061391 [GRCh38]
Chr8:17918900 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.83C>T (p.Thr28Ile) single nucleotide variant Farber lipogranulomatosis [RCV001159116] Chr8:18075583 [GRCh38]
Chr8:17933092 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.-40C>T single nucleotide variant Farber lipogranulomatosis [RCV001159118]|not provided [RCV001586013] Chr8:18084098 [GRCh38]
Chr8:17941607 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.823A>G (p.Ile275Val) single nucleotide variant Farber lipogranulomatosis [RCV001159013] Chr8:18059666 [GRCh38]
Chr8:17917175 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*292C>G single nucleotide variant Farber lipogranulomatosis [RCV001160259] Chr8:18057242 [GRCh38]
Chr8:17914751 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*222T>A single nucleotide variant Farber lipogranulomatosis [RCV001160260] Chr8:18057312 [GRCh38]
Chr8:17914821 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.219A>G (p.Leu73=) single nucleotide variant not provided [RCV002558776]|not specified [RCV001174798] Chr8:18069876 [GRCh38]
Chr8:17927385 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.290T>A (p.Val97Glu) single nucleotide variant Farber lipogranulomatosis [RCV001003301] Chr8:18069805 [GRCh38]
Chr8:17927314 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp) single nucleotide variant Farber lipogranulomatosis [RCV001003306] Chr8:18063186 [GRCh38]
Chr8:17920695 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln) single nucleotide variant Farber lipogranulomatosis [RCV001003308]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV004798880] Chr8:18058837 [GRCh38]
Chr8:17916346 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.314T>C (p.Leu105Pro) single nucleotide variant Farber lipogranulomatosis [RCV001003333] Chr8:18067288 [GRCh38]
Chr8:17924797 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.917+5G>A single nucleotide variant Farber lipogranulomatosis [RCV001003336] Chr8:18059567 [GRCh38]
Chr8:17917076 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.125+272T>G single nucleotide variant not provided [RCV001645707] Chr8:18075269 [GRCh38]
Chr8:17932778 [GRCh37]
Chr8:8p22
benign
NM_004315.6(ASAH1):c.126+117G>C single nucleotide variant not provided [RCV001585347] Chr8:18084559 [GRCh38]
Chr8:17942068 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-134G>A single nucleotide variant not provided [RCV001609763] Chr8:18059837 [GRCh38]
Chr8:17917346 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.593T>C (p.Val198Ala) single nucleotide variant Farber lipogranulomatosis [RCV001003304] Chr8:18062334 [GRCh38]
Chr8:17919843 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.67C>G (p.His23Asp) single nucleotide variant Farber lipogranulomatosis [RCV001003305] Chr8:18083992 [GRCh38]
Chr8:17941501 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003309] Chr8:18062409 [GRCh38]
Chr8:17919918 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) single nucleotide variant Farber lipogranulomatosis [RCV001003327]|not provided [RCV001860536] Chr8:18059384 [GRCh38]
Chr8:17916893 [GRCh37]
Chr8:8p22
likely pathogenic|conflicting interpretations of pathogenicity
NM_177924.5(ASAH1):c.256dup (p.Thr86fs) duplication Farber lipogranulomatosis [RCV001003332] Chr8:18069838..18069839 [GRCh38]
Chr8:17927347..17927348 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003338]|not provided [RCV001544563] Chr8:18059603 [GRCh38]
Chr8:17917112 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.786-216G>T single nucleotide variant not provided [RCV001684549] Chr8:18059919 [GRCh38]
Chr8:17917428 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.126-1600G>A single nucleotide variant not provided [RCV001714137] Chr8:18072990 [GRCh38]
Chr8:17930499 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.217-76A>T single nucleotide variant not provided [RCV001614403] Chr8:18069954 [GRCh38]
Chr8:17927463 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1099-122_1099-121insAC insertion not provided [RCV001537036] Chr8:18057744..18057745 [GRCh38]
Chr8:17915253..17915254 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.*996C>T single nucleotide variant Farber lipogranulomatosis [RCV001163543] Chr8:18056538 [GRCh38]
Chr8:17914047 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*171T>C single nucleotide variant Farber lipogranulomatosis [RCV001163629]|not provided [RCV004695059] Chr8:18057363 [GRCh38]
Chr8:17914872 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.382+59A>G single nucleotide variant not provided [RCV001540602] Chr8:18067161 [GRCh38]
Chr8:17924670 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe) duplication Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003310] Chr8:18062327..18062328 [GRCh38]
Chr8:17919836..17919837 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003312] Chr8:18083982 [GRCh38]
Chr8:17941491 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.538G>A (p.Glu180Lys) single nucleotide variant Farber lipogranulomatosis [RCV001003313] Chr8:18062389 [GRCh38]
Chr8:17919898 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.92G>T (p.Cys31Phe) single nucleotide variant Farber lipogranulomatosis [RCV001003319] Chr8:18075574 [GRCh38]
Chr8:17933083 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) single nucleotide variant Farber lipogranulomatosis [RCV001003320]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV004796343]|not provided [RCV001860534] Chr8:18059385 [GRCh38]
Chr8:17916894 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.833C>T (p.Pro278Leu) single nucleotide variant Farber lipogranulomatosis [RCV001003323] Chr8:18059656 [GRCh38]
Chr8:17917165 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.*136G>A single nucleotide variant Farber lipogranulomatosis [RCV001163630] Chr8:18057398 [GRCh38]
Chr8:17914907 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.*926A>T single nucleotide variant Farber lipogranulomatosis [RCV001163841] Chr8:18056608 [GRCh38]
Chr8:17914117 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1153C>T (p.Leu385=) single nucleotide variant Farber lipogranulomatosis [RCV001163939]|not provided [RCV003769792] Chr8:18057569 [GRCh38]
Chr8:17915078 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.1041+5C>T single nucleotide variant Farber lipogranulomatosis [RCV001163943] Chr8:18059336 [GRCh38]
Chr8:17916845 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p22(chr8:17657220-17942959)x3 copy number gain not provided [RCV001006083] Chr8:17657220..17942959 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001003298] Chr8:18071339 [GRCh38]
Chr8:17928848 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly) single nucleotide variant Farber lipogranulomatosis [RCV001003300] Chr8:18069805 [GRCh38]
Chr8:17927314 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.677G>C (p.Arg226Pro) single nucleotide variant Farber lipogranulomatosis [RCV001003317] Chr8:18061712 [GRCh38]
Chr8:17919221 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.770T>C (p.Leu257Pro) single nucleotide variant Farber lipogranulomatosis [RCV001003322] Chr8:18061392 [GRCh38]
Chr8:17918901 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.704-2A>G single nucleotide variant Farber lipogranulomatosis [RCV001003334] Chr8:18061460 [GRCh38]
Chr8:17918969 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.408T>A (p.Phe136Leu) single nucleotide variant Farber lipogranulomatosis [RCV001003302] Chr8:18064506 [GRCh38]
Chr8:17922015 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1084C>A (p.Pro362Thr) single nucleotide variant Farber lipogranulomatosis [RCV001003318] Chr8:18058849 [GRCh38]
Chr8:17916358 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr) single nucleotide variant Farber lipogranulomatosis [RCV001003321] Chr8:18057547 [GRCh38]
Chr8:17915056 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.304C>A (p.Pro102Thr) single nucleotide variant Farber lipogranulomatosis [RCV001162015] Chr8:18067298 [GRCh38]
Chr8:17924807 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177924.5(ASAH1):c.847C>G (p.Leu283Val) single nucleotide variant Farber lipogranulomatosis [RCV001333665]|not provided [RCV002546644] Chr8:18059642 [GRCh38]
Chr8:17917151 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17912925)_(17942879_?)dup duplication not provided [RCV001348883] Chr8:17912925..17942879 [GRCh37]
Chr8:8p22
uncertain significance
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_177924.5(ASAH1):c.587A>G (p.Lys196Arg) single nucleotide variant Farber lipogranulomatosis [RCV001331887] Chr8:18062340 [GRCh38]
Chr8:17919849 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p22(chr8:17878070-18529463)x3 copy number gain not provided [RCV001259481] Chr8:17878070..18529463 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.10C>G (p.Arg4Gly) single nucleotide variant not provided [RCV001340341] Chr8:18084049 [GRCh38]
Chr8:17941558 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.2T>G (p.Met1Arg) single nucleotide variant Farber disease [RCV001333663] Chr8:18084057 [GRCh38]
Chr8:17941566 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.556A>G (p.Thr186Ala) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001333664]|not provided [RCV002546643] Chr8:18062371 [GRCh38]
Chr8:17919880 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786-241_786-240del deletion not provided [RCV001539063] Chr8:18059943..18059944 [GRCh38]
Chr8:17917452..17917453 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.9C>T (p.Gly3=) single nucleotide variant not provided [RCV001374087] Chr8:18084050 [GRCh38]
Chr8:17941559 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.618C>T (p.Gly206=) single nucleotide variant ASAH1-related disorders [RCV004550108]|not provided [RCV001394918] Chr8:18062309 [GRCh38]
Chr8:17919818 [GRCh37]
Chr8:8p22
likely benign
NM_004315.6(ASAH1):c.38G>A (p.Gly13Glu) single nucleotide variant ASAH1-related disorders [RCV004738228]|not provided [RCV001289241] Chr8:18084764 [GRCh38]
Chr8:17942273 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1A>C (p.Met1Leu) single nucleotide variant Farber disease [RCV001333662] Chr8:18084058 [GRCh38]
Chr8:17941567 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.216+6C>G single nucleotide variant not provided [RCV001310620] Chr8:18071294 [GRCh38]
Chr8:17928803 [GRCh37]
Chr8:8p22
likely benign|conflicting interpretations of pathogenicity
NM_177924.5(ASAH1):c.649-5C>G single nucleotide variant not provided [RCV001346837] Chr8:18061745 [GRCh38]
Chr8:17919254 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.994G>A (p.Asp332Asn) single nucleotide variant not provided [RCV001365372] Chr8:18059388 [GRCh38]
Chr8:17916897 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.457+5T>C single nucleotide variant not provided [RCV001316211] Chr8:18064452 [GRCh38]
Chr8:17921961 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1042-9G>A single nucleotide variant not provided [RCV001399113] Chr8:18058900 [GRCh38]
Chr8:17916409 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+10_785+11del deletion not provided [RCV001445852] Chr8:18061366..18061367 [GRCh38]
Chr8:17918875..17918876 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.503+127G>A single nucleotide variant Farber lipogranulomatosis [RCV001553847]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001553848]|not provided [RCV001540868] Chr8:18063058 [GRCh38]
Chr8:17920567 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.36G>A (p.Leu12=) single nucleotide variant ASAH1-related disorders [RCV004550309]|not provided [RCV001532609] Chr8:18084023 [GRCh38]
Chr8:17941532 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-255_458-253dup duplication not provided [RCV001575759] Chr8:18063470..18063471 [GRCh38]
Chr8:17920979..17920980 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.125+313A>G single nucleotide variant not provided [RCV001612642] Chr8:18075228 [GRCh38]
Chr8:17932737 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.206A>G (p.Lys69Arg) single nucleotide variant not provided [RCV001507723] Chr8:18071310 [GRCh38]
Chr8:17928819 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1041+98C>T single nucleotide variant not provided [RCV001614391] Chr8:18059243 [GRCh38]
Chr8:17916752 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV001647301]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002506589]|not provided [RCV001507724] Chr8:18084056 [GRCh38]
Chr8:17941565 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.750G>T (p.Gly250=) single nucleotide variant not provided [RCV001519006] Chr8:18061412 [GRCh38]
Chr8:17918921 [GRCh37]
Chr8:8p22
benign|likely benign
NM_177924.5(ASAH1):c.383-114C>T single nucleotide variant not provided [RCV001717243] Chr8:18064645 [GRCh38]
Chr8:17922154 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1099-209T>C single nucleotide variant not provided [RCV001615623] Chr8:18057832 [GRCh38]
Chr8:17915341 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.503+224G>A single nucleotide variant not provided [RCV001589549] Chr8:18062961 [GRCh38]
Chr8:17920470 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.125+1933G>A single nucleotide variant not provided [RCV001618736] Chr8:18073608 [GRCh38]
Chr8:17931117 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.458-255dup duplication not provided [RCV001672155] Chr8:18063470..18063471 [GRCh38]
Chr8:17920979..17920980 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.648+20A>C single nucleotide variant not provided [RCV001513033] Chr8:18062259 [GRCh38]
Chr8:17919768 [GRCh37]
Chr8:8p22
benign
NM_177924.5(ASAH1):c.1099-283G>A single nucleotide variant not provided [RCV001650029] Chr8:18057906 [GRCh38]
Chr8:17915415 [GRCh37]
Chr8:8p22
benign
NC_000008.10:g.(?_17927301)_(17930785_?)del deletion not provided [RCV001382193] Chr8:17927301..17930785 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly) single nucleotide variant Farber lipogranulomatosis [RCV001728066] Chr8:18064487 [GRCh38]
Chr8:17921996 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.358G>C (p.Ala120Pro) single nucleotide variant Farber lipogranulomatosis [RCV001728067] Chr8:18067244 [GRCh38]
Chr8:17924753 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter) single nucleotide variant Farber lipogranulomatosis [RCV002272649] Chr8:18075572 [GRCh38]
Chr8:17933081 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.177C>A (p.Tyr59Ter) single nucleotide variant not provided [RCV003104632] Chr8:18071339 [GRCh38]
Chr8:17928848 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.79-1G>A single nucleotide variant not provided [RCV001780645] Chr8:18075588 [GRCh38]
Chr8:17933097 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.885_886del (p.Asp297fs) microsatellite ASAH1-related disorders [RCV004728813]|not provided [RCV001784859] Chr8:18059603..18059604 [GRCh38]
Chr8:17917112..17917113 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) single nucleotide variant ASAH1-related disorders [RCV004738381]|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002482308]|not provided [RCV001780646] Chr8:18071330 [GRCh38]
Chr8:17928839 [GRCh37]
Chr8:8p22
pathogenic|likely pathogenic
NM_177924.5(ASAH1):c.109C>A (p.Pro37Thr) single nucleotide variant Abnormality of the nervous system [RCV001814525] Chr8:18075557 [GRCh38]
Chr8:17933066 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.939A>G (p.Arg313=) single nucleotide variant not provided [RCV002044670] Chr8:18059443 [GRCh38]
Chr8:17916952 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.78+3G>T single nucleotide variant not provided [RCV001930071] Chr8:18083978 [GRCh38]
Chr8:17941487 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.922G>A (p.Asp308Asn) single nucleotide variant not provided [RCV001864534] Chr8:18059460 [GRCh38]
Chr8:17916969 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.988C>T (p.Leu330Phe) single nucleotide variant not provided [RCV002008461] Chr8:18059394 [GRCh38]
Chr8:17916903 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.216+2T>C single nucleotide variant not provided [RCV002008517] Chr8:18071298 [GRCh38]
Chr8:17928807 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.326C>T (p.Pro109Leu) single nucleotide variant not provided [RCV001988735] Chr8:18067276 [GRCh38]
Chr8:17924785 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.532A>T (p.Ile178Leu) single nucleotide variant not provided [RCV001896033] Chr8:18062395 [GRCh38]
Chr8:17919904 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+16A>G single nucleotide variant not provided [RCV001893985] Chr8:18075525 [GRCh38]
Chr8:17933034 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.456dup (p.Gly153fs) duplication not provided [RCV001874575] Chr8:18064457..18064458 [GRCh38]
Chr8:17921966..17921967 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.263T>G (p.Val88Gly) single nucleotide variant not provided [RCV001971445] Chr8:18069832 [GRCh38]
Chr8:17927341 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.266C>G (p.Pro89Arg) single nucleotide variant Inborn genetic diseases [RCV002554172]|not provided [RCV001896097] Chr8:18069829 [GRCh38]
Chr8:17927338 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.377C>G (p.Pro126Arg) single nucleotide variant not provided [RCV001874748] Chr8:18067225 [GRCh38]
Chr8:17924734 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.217-2A>G single nucleotide variant not provided [RCV002007056] Chr8:18069880 [GRCh38]
Chr8:17927389 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.74C>T (p.Pro25Leu) single nucleotide variant not provided [RCV001949965] Chr8:18083985 [GRCh38]
Chr8:17941494 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.703+6T>G single nucleotide variant not provided [RCV001915288] Chr8:18061680 [GRCh38]
Chr8:17919189 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1126G>A (p.Val376Ile) single nucleotide variant not provided [RCV001864594] Chr8:18057596 [GRCh38]
Chr8:17915105 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.5C>G (p.Pro2Arg) single nucleotide variant not provided [RCV001971366] Chr8:18084054 [GRCh38]
Chr8:17941563 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.100T>C (p.Ser34Pro) single nucleotide variant not provided [RCV002021396] Chr8:18075566 [GRCh38]
Chr8:17933075 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.4C>G (p.Pro2Ala) single nucleotide variant not provided [RCV001967224] Chr8:18084055 [GRCh38]
Chr8:17941564 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1098+15A>G single nucleotide variant not provided [RCV001983244] Chr8:18058820 [GRCh38]
Chr8:17916329 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.1142T>C (p.Phe381Ser) single nucleotide variant not provided [RCV001909085] Chr8:18057580 [GRCh38]
Chr8:17915089 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.818C>G (p.Thr273Ser) single nucleotide variant not provided [RCV001912003] Chr8:18059671 [GRCh38]
Chr8:17917180 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.265C>T (p.Pro89Ser) single nucleotide variant not provided [RCV001945206] Chr8:18069830 [GRCh38]
Chr8:17927339 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.551C>T (p.Pro184Leu) single nucleotide variant not provided [RCV002004917] Chr8:18062376 [GRCh38]
Chr8:17919885 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1062G>A (p.Met354Ile) single nucleotide variant not provided [RCV001911867] Chr8:18058871 [GRCh38]
Chr8:17916380 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1094A>T (p.Asn365Ile) single nucleotide variant not provided [RCV001966878] Chr8:18058839 [GRCh38]
Chr8:17916348 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002491986]|not provided [RCV001967554] Chr8:18057553 [GRCh38]
Chr8:17915062 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1054G>A (p.Glu352Lys) single nucleotide variant Inborn genetic diseases [RCV002545398]|not provided [RCV002039399] Chr8:18058879 [GRCh38]
Chr8:17916388 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.551C>A (p.Pro184His) single nucleotide variant not provided [RCV001947435] Chr8:18062376 [GRCh38]
Chr8:17919885 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.642C>G (p.Phe214Leu) single nucleotide variant not provided [RCV002041731] Chr8:18062285 [GRCh38]
Chr8:17919794 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.217-9_217-6del microsatellite not provided [RCV001893971] Chr8:18069884..18069887 [GRCh38]
Chr8:17927393..17927396 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.216+3A>G single nucleotide variant not provided [RCV001927182] Chr8:18071297 [GRCh38]
Chr8:17928806 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.799A>G (p.Lys267Glu) single nucleotide variant not provided [RCV001911300] Chr8:18059690 [GRCh38]
Chr8:17917199 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304) copy number gain not specified [RCV002053754] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3
uncertain significance
NM_177924.5(ASAH1):c.62C>T (p.Ala21Val) single nucleotide variant not provided [RCV001928448] Chr8:18083997 [GRCh38]
Chr8:17941506 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1120A>G (p.Ile374Val) single nucleotide variant not provided [RCV002044524] Chr8:18057602 [GRCh38]
Chr8:17915111 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.746T>C (p.Ile249Thr) single nucleotide variant not provided [RCV002022958] Chr8:18061416 [GRCh38]
Chr8:17918925 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.424A>T (p.Ile142Phe) single nucleotide variant not provided [RCV001909869] Chr8:18064490 [GRCh38]
Chr8:17921999 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.105C>G (p.Thr35=) single nucleotide variant not provided [RCV001863456] Chr8:18075561 [GRCh38]
Chr8:17933070 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.409_410insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGTACTCGTGATCCTCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATTCAATATTTTTT (p.Tyr137fs) microsatellite not provided [RCV002007185] Chr8:18064504..18064505 [GRCh38]
Chr8:17922013..17922014 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.918A>T (p.Glu306Asp) single nucleotide variant not provided [RCV002044298] Chr8:18059464 [GRCh38]
Chr8:17916973 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.973A>C (p.Lys325Gln) single nucleotide variant not provided [RCV002020617] Chr8:18059409 [GRCh38]
Chr8:17916918 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1099-18A>G single nucleotide variant not provided [RCV002007631] Chr8:18057641 [GRCh38]
Chr8:17915150 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.781A>C (p.Thr261Pro) single nucleotide variant not provided [RCV001984944] Chr8:18061381 [GRCh38]
Chr8:17918890 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.886C>G (p.Arg296Gly) single nucleotide variant not provided [RCV001983908] Chr8:18059603 [GRCh38]
Chr8:17917112 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.179A>G (p.Lys60Arg) single nucleotide variant not provided [RCV002002603] Chr8:18071337 [GRCh38]
Chr8:17928846 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.600G>A (p.Lys200=) single nucleotide variant not provided [RCV002005652] Chr8:18062327 [GRCh38]
Chr8:17919836 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.582C>A (p.Asn194Lys) single nucleotide variant not provided [RCV001909635] Chr8:18062345 [GRCh38]
Chr8:17919854 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.50G>C (p.Ser17Thr) single nucleotide variant not provided [RCV002003178] Chr8:18084009 [GRCh38]
Chr8:17941518 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.387_388del (p.Glu129fs) microsatellite not provided [RCV002007402] Chr8:18064526..18064527 [GRCh38]
Chr8:17922035..17922036 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.686T>C (p.Ile229Thr) single nucleotide variant not provided [RCV001913525] Chr8:18061703 [GRCh38]
Chr8:17919212 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.409T>A (p.Tyr137Asn) single nucleotide variant not provided [RCV001945179] Chr8:18064505 [GRCh38]
Chr8:17922014 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.388A>T (p.Ile130Phe) single nucleotide variant Inborn genetic diseases [RCV002556384]|not provided [RCV001945224] Chr8:18064526 [GRCh38]
Chr8:17922035 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.833C>A (p.Pro278Gln) single nucleotide variant not provided [RCV002043449] Chr8:18059656 [GRCh38]
Chr8:17917165 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.383-4A>G single nucleotide variant not provided [RCV001908611] Chr8:18064535 [GRCh38]
Chr8:17922044 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.637G>A (p.Gly213Arg) single nucleotide variant not provided [RCV001955614] Chr8:18062290 [GRCh38]
Chr8:17919799 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.297A>C (p.Glu99Asp) single nucleotide variant not provided [RCV002032250] Chr8:18069798 [GRCh38]
Chr8:17927307 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1041+14G>T single nucleotide variant not provided [RCV001888474] Chr8:18059327 [GRCh38]
Chr8:17916836 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.857A>G (p.Asn286Ser) single nucleotide variant not provided [RCV001886255] Chr8:18059632 [GRCh38]
Chr8:17917141 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.27A>C (p.Leu9Phe) single nucleotide variant Inborn genetic diseases [RCV003365470]|not provided [RCV002049395] Chr8:18084032 [GRCh38]
Chr8:17941541 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.30CCT[1] (p.Leu12del) microsatellite not provided [RCV001975357] Chr8:18084024..18084026 [GRCh38]
Chr8:17941533..17941535 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.829G>A (p.Ala277Thr) single nucleotide variant not provided [RCV002019998] Chr8:18059660 [GRCh38]
Chr8:17917169 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1035C>G (p.Ser345Arg) single nucleotide variant not provided [RCV001961913] Chr8:18059347 [GRCh38]
Chr8:17916856 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1035C>A (p.Ser345Arg) single nucleotide variant Inborn genetic diseases [RCV002561501]|not provided [RCV001962525] Chr8:18059347 [GRCh38]
Chr8:17916856 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.732A>C (p.Lys244Asn) single nucleotide variant not provided [RCV001924707] Chr8:18061430 [GRCh38]
Chr8:17918939 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.461A>G (p.His154Arg) single nucleotide variant not provided [RCV001962016] Chr8:18063227 [GRCh38]
Chr8:17920736 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.283C>T (p.Gln95Ter) single nucleotide variant not provided [RCV001941967] Chr8:18069812 [GRCh38]
Chr8:17927321 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1085C>T (p.Pro362Leu) single nucleotide variant not provided [RCV001880722] Chr8:18058848 [GRCh38]
Chr8:17916357 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002503501]|not provided [RCV001886719] Chr8:18067294 [GRCh38]
Chr8:17924803 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1061T>C (p.Met354Thr) single nucleotide variant not provided [RCV001978860] Chr8:18058872 [GRCh38]
Chr8:17916381 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.61_76del (p.Ala21fs) deletion not provided [RCV001937278] Chr8:18083983..18083998 [GRCh38]
Chr8:17941492..17941507 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.28G>A (p.Val10Ile) single nucleotide variant not provided [RCV001888678] Chr8:18084031 [GRCh38]
Chr8:17941540 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1007C>A (p.Pro336His) single nucleotide variant not provided [RCV002050022] Chr8:18059375 [GRCh38]
Chr8:17916884 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+11A>G single nucleotide variant not provided [RCV002018519] Chr8:18075530 [GRCh38]
Chr8:17933039 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.127T>C (p.Tyr43His) single nucleotide variant not provided [RCV001941516] Chr8:18071389 [GRCh38]
Chr8:17928898 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.23C>G (p.Ala8Gly) single nucleotide variant not provided [RCV001941391] Chr8:18084036 [GRCh38]
Chr8:17941545 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1098+18T>G single nucleotide variant not provided [RCV002018607] Chr8:18058817 [GRCh38]
Chr8:17916326 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.64C>T (p.Gln22Ter) single nucleotide variant not provided [RCV001963132] Chr8:18083995 [GRCh38]
Chr8:17941504 [GRCh37]
Chr8:8p22
pathogenic
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3
uncertain significance
NC_000008.11:g.18061741del deletion not provided [RCV001993313] Chr8:18061739 [GRCh38]
Chr8:17919248 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.376C>T (p.Pro126Ser) single nucleotide variant not provided [RCV001962747] Chr8:18067226 [GRCh38]
Chr8:17924735 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.326C>A (p.Pro109His) single nucleotide variant not provided [RCV001943579] Chr8:18067276 [GRCh38]
Chr8:17924785 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1088T>G (p.Val363Gly) single nucleotide variant not provided [RCV001885786] Chr8:18058845 [GRCh38]
Chr8:17916354 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.947T>C (p.Val316Ala) single nucleotide variant not provided [RCV001943813] Chr8:18059435 [GRCh38]
Chr8:17916944 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.421A>G (p.Thr141Ala) single nucleotide variant not provided [RCV001958148] Chr8:18064493 [GRCh38]
Chr8:17922002 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.683G>A (p.Ser228Asn) single nucleotide variant not provided [RCV001989662] Chr8:18061706 [GRCh38]
Chr8:17919215 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.18C>G (p.Cys6Trp) single nucleotide variant not provided [RCV002046739] Chr8:18084041 [GRCh38]
Chr8:17941550 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.172C>G (p.Pro58Ala) single nucleotide variant not provided [RCV001900479] Chr8:18071344 [GRCh38]
Chr8:17928853 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.631T>G (p.Leu211Val) single nucleotide variant not provided [RCV001921794] Chr8:18062296 [GRCh38]
Chr8:17919805 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.728A>T (p.Lys243Met) single nucleotide variant not provided [RCV002030753] Chr8:18061434 [GRCh38]
Chr8:17918943 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.383-19A>G single nucleotide variant not provided [RCV001993829] Chr8:18064550 [GRCh38]
Chr8:17922059 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.872G>T (p.Gly291Val) single nucleotide variant not provided [RCV001974274] Chr8:18059617 [GRCh38]
Chr8:17917126 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.170C>T (p.Pro57Leu) single nucleotide variant not provided [RCV001936464] Chr8:18071346 [GRCh38]
Chr8:17928855 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1106T>C (p.Val369Ala) single nucleotide variant not provided [RCV001935177] Chr8:18057616 [GRCh38]
Chr8:17915125 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.152C>G (p.Thr51Ser) single nucleotide variant not provided [RCV001918077] Chr8:18071364 [GRCh38]
Chr8:17928873 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1030A>C (p.Thr344Pro) single nucleotide variant not provided [RCV002050958] Chr8:18059352 [GRCh38]
Chr8:17916861 [GRCh37]
Chr8:8p22
benign|uncertain significance
NM_177924.5(ASAH1):c.202G>C (p.Asp68His) single nucleotide variant not provided [RCV001934081] Chr8:18071314 [GRCh38]
Chr8:17928823 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.235T>A (p.Ser79Thr) single nucleotide variant not provided [RCV001902669] Chr8:18069860 [GRCh38]
Chr8:17927369 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1042-3T>C single nucleotide variant not provided [RCV002029806] Chr8:18058894 [GRCh38]
Chr8:17916403 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.991GAT[1] (p.Asp332del) microsatellite not provided [RCV002048479] Chr8:18059386..18059388 [GRCh38]
Chr8:17916895..17916897 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786-3T>C single nucleotide variant not provided [RCV001974624] Chr8:18059706 [GRCh38]
Chr8:17917215 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.785+2T>C single nucleotide variant ASAH1-related disorders [RCV004738479]|not provided [RCV001973375] Chr8:18061375 [GRCh38]
Chr8:17918884 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.529G>A (p.Val177Ile) single nucleotide variant not provided [RCV001991564] Chr8:18062398 [GRCh38]
Chr8:17919907 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17941470)_(17941567_?)del deletion not provided [RCV001953624] Chr8:17941470..17941567 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.46G>C (p.Val16Leu) single nucleotide variant not provided [RCV001931774] Chr8:18084013 [GRCh38]
Chr8:17941522 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1091_1095del (p.Leu364fs) deletion not provided [RCV001973432] Chr8:18058838..18058842 [GRCh38]
Chr8:17916347..17916351 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1140A>T (p.Gln380His) single nucleotide variant not provided [RCV002015936] Chr8:18057582 [GRCh38]
Chr8:17915091 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.758C>G (p.Thr253Ser) single nucleotide variant not provided [RCV001879592] Chr8:18061404 [GRCh38]
Chr8:17918913 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.648+1G>A single nucleotide variant not provided [RCV002031901] Chr8:18062278 [GRCh38]
Chr8:17919787 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1104C>A (p.Thr368=) single nucleotide variant not provided [RCV001897527] Chr8:18057618 [GRCh38]
Chr8:17915127 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.547A>G (p.Lys183Glu) single nucleotide variant not provided [RCV001952753] Chr8:18062380 [GRCh38]
Chr8:17919889 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.677G>A (p.Arg226His) single nucleotide variant not provided [RCV001937466] Chr8:18061712 [GRCh38]
Chr8:17919221 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.40G>A (p.Ala14Thr) single nucleotide variant not provided [RCV001897616] Chr8:18084019 [GRCh38]
Chr8:17941528 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.244A>G (p.Asn82Asp) single nucleotide variant not provided [RCV002048001] Chr8:18069851 [GRCh38]
Chr8:17927360 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.401A>G (p.Asn134Ser) single nucleotide variant not provided [RCV001996965] Chr8:18064513 [GRCh38]
Chr8:17922022 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1036C>G (p.Gln346Glu) single nucleotide variant not provided [RCV001906317] Chr8:18059346 [GRCh38]
Chr8:17916855 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.648+20A>G single nucleotide variant not provided [RCV002015239] Chr8:18062259 [GRCh38]
Chr8:17919768 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.785+1G>A single nucleotide variant not provided [RCV001996451] Chr8:18061376 [GRCh38]
Chr8:17918885 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.262G>T (p.Val88Leu) single nucleotide variant not provided [RCV001955778] Chr8:18069833 [GRCh38]
Chr8:17927342 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.785+5dup duplication not provided [RCV001921631] Chr8:18061371..18061372 [GRCh38]
Chr8:17918880..17918881 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1030A>G (p.Thr344Ala) single nucleotide variant not provided [RCV001920810] Chr8:18059352 [GRCh38]
Chr8:17916861 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.275A>G (p.Lys92Arg) single nucleotide variant not provided [RCV002014629] Chr8:18069820 [GRCh38]
Chr8:17927329 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1034G>A (p.Ser345Asn) single nucleotide variant not provided [RCV001995929] Chr8:18059348 [GRCh38]
Chr8:17916857 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17915043)_(17941567_?)dup duplication not provided [RCV002012117] Chr8:17915043..17941567 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.95G>T (p.Arg32Ile) single nucleotide variant not provided [RCV001867690] Chr8:18075571 [GRCh38]
Chr8:17933080 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.658A>G (p.Ser220Gly) single nucleotide variant not provided [RCV001940453] Chr8:18061731 [GRCh38]
Chr8:17919240 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.551C>G (p.Pro184Arg) single nucleotide variant not provided [RCV001881642] Chr8:18062376 [GRCh38]
Chr8:17919885 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1064A>G (p.Tyr355Cys) single nucleotide variant not provided [RCV001906635] Chr8:18058869 [GRCh38]
Chr8:17916378 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.289G>C (p.Val97Leu) single nucleotide variant not provided [RCV001906636] Chr8:18069806 [GRCh38]
Chr8:17927315 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.78G>A (p.Pro26=) single nucleotide variant not provided [RCV001933047] Chr8:18083981 [GRCh38]
Chr8:17941490 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.281T>C (p.Met94Thr) single nucleotide variant not provided [RCV001974682] Chr8:18069814 [GRCh38]
Chr8:17927323 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.114_116del (p.Ser39del) deletion not provided [RCV001899892] Chr8:18075550..18075552 [GRCh38]
Chr8:17933059..17933061 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.229G>A (p.Val77Met) single nucleotide variant not provided [RCV001865074] Chr8:18069866 [GRCh38]
Chr8:17927375 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.342G>C (p.Glu114Asp) single nucleotide variant not provided [RCV001921995] Chr8:18067260 [GRCh38]
Chr8:17924769 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.458-5A>G single nucleotide variant not provided [RCV001937583] Chr8:18063235 [GRCh38]
Chr8:17920744 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.446A>G (p.Glu149Gly) single nucleotide variant not provided [RCV002017417] Chr8:18064468 [GRCh38]
Chr8:17921977 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786-2A>G single nucleotide variant not provided [RCV001959474] Chr8:18059705 [GRCh38]
Chr8:17917214 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.456A>G (p.Lys152=) single nucleotide variant not provided [RCV001952638] Chr8:18064458 [GRCh38]
Chr8:17921967 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.8G>C (p.Gly3Ala) single nucleotide variant not provided [RCV001955354] Chr8:18084051 [GRCh38]
Chr8:17941560 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.187C>T (p.His63Tyr) single nucleotide variant not provided [RCV001906784] Chr8:18071329 [GRCh38]
Chr8:17928838 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.458-2A>C single nucleotide variant not provided [RCV002033543] Chr8:18063232 [GRCh38]
Chr8:17920741 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.502G>A (p.Gly168Arg) single nucleotide variant Inborn genetic diseases [RCV002557755]|not provided [RCV001938312] Chr8:18063186 [GRCh38]
Chr8:17920695 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.359C>T (p.Ala120Val) single nucleotide variant not provided [RCV002033652] Chr8:18067243 [GRCh38]
Chr8:17924752 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1028G>A (p.Arg343His) single nucleotide variant not provided [RCV001906593] Chr8:18059354 [GRCh38]
Chr8:17916863 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1094A>G (p.Asn365Ser) single nucleotide variant not provided [RCV001884484] Chr8:18058839 [GRCh38]
Chr8:17916348 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.137C>T (p.Ala46Val) single nucleotide variant not provided [RCV001884651] Chr8:18071379 [GRCh38]
Chr8:17928888 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.667C>G (p.Leu223Val) single nucleotide variant not provided [RCV001980409] Chr8:18061722 [GRCh38]
Chr8:17919231 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.503+19del deletion not provided [RCV001924796] Chr8:18063166 [GRCh38]
Chr8:17920675 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.682A>G (p.Ser228Gly) single nucleotide variant not provided [RCV001924892] Chr8:18061707 [GRCh38]
Chr8:17919216 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17747877)_(18544453_?)del deletion not provided [RCV001956385] Chr8:17747877..18544453 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1042-1G>A single nucleotide variant not provided [RCV002036068] Chr8:18058892 [GRCh38]
Chr8:17916401 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.374T>C (p.Ile125Thr) single nucleotide variant not provided [RCV001884337] Chr8:18067228 [GRCh38]
Chr8:17924737 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.968G>A (p.Arg323His) single nucleotide variant not provided [RCV001975566]|not specified [RCV003155450] Chr8:18059414 [GRCh38]
Chr8:17916923 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.793G>A (p.Glu265Lys) single nucleotide variant not provided [RCV002028812] Chr8:18059696 [GRCh38]
Chr8:17917205 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1048_1049del (p.Ser350fs) microsatellite not provided [RCV001950923] Chr8:18058884..18058885 [GRCh38]
Chr8:17916393..17916394 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002482757]|not provided [RCV001922542] Chr8:18061378 [GRCh38]
Chr8:17918887 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.503+4A>T single nucleotide variant not provided [RCV002011746] Chr8:18063181 [GRCh38]
Chr8:17920690 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.670A>T (p.Asn224Tyr) single nucleotide variant not provided [RCV001933316] Chr8:18061719 [GRCh38]
Chr8:17919228 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.152C>T (p.Thr51Ile) single nucleotide variant not provided [RCV002013417] Chr8:18071364 [GRCh38]
Chr8:17928873 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.592G>C (p.Val198Leu) single nucleotide variant not provided [RCV001899274] Chr8:18062335 [GRCh38]
Chr8:17919844 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.353G>A (p.Gly118Asp) single nucleotide variant not provided [RCV002049894] Chr8:18067249 [GRCh38]
Chr8:17924758 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.494T>C (p.Val165Ala) single nucleotide variant not provided [RCV001995102] Chr8:18063194 [GRCh38]
Chr8:17920703 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.890A>G (p.Asp297Gly) single nucleotide variant not provided [RCV001866501] Chr8:18059599 [GRCh38]
Chr8:17917108 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.676C>T (p.Arg226Cys) single nucleotide variant not provided [RCV002013753] Chr8:18061713 [GRCh38]
Chr8:17919222 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.69C>G (p.His23Gln) single nucleotide variant not provided [RCV001923111] Chr8:18083990 [GRCh38]
Chr8:17941499 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1114A>G (p.Thr372Ala) single nucleotide variant not provided [RCV001957264] Chr8:18057608 [GRCh38]
Chr8:17915117 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786T>G (p.Ser262Arg) single nucleotide variant not provided [RCV001866619] Chr8:18059703 [GRCh38]
Chr8:17917212 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.703+6T>C single nucleotide variant not provided [RCV001933591] Chr8:18061680 [GRCh38]
Chr8:17919189 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1024A>G (p.Asn342Asp) single nucleotide variant not provided [RCV002046660] Chr8:18059358 [GRCh38]
Chr8:17916867 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.749G>C (p.Gly250Ala) single nucleotide variant not provided [RCV001931860] Chr8:18061413 [GRCh38]
Chr8:17918922 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.504-17A>T single nucleotide variant not provided [RCV001935471] Chr8:18062440 [GRCh38]
Chr8:17919949 [GRCh37]
Chr8:8p22
likely benign|uncertain significance
NM_177924.5(ASAH1):c.56C>T (p.Ala19Val) single nucleotide variant not provided [RCV001957193] Chr8:18084003 [GRCh38]
Chr8:17941512 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1005G>A (p.Thr335=) single nucleotide variant not provided [RCV002085594] Chr8:18059377 [GRCh38]
Chr8:17916886 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-7C>T single nucleotide variant not provided [RCV002092582] Chr8:18057630 [GRCh38]
Chr8:17915139 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002494174]|not provided [RCV002075683] Chr8:18061722 [GRCh38]
Chr8:17919231 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.123A>G (p.Pro41=) single nucleotide variant not provided [RCV002165059] Chr8:18075543 [GRCh38]
Chr8:17933052 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.72G>C (p.Ala24=) single nucleotide variant not provided [RCV002108277] Chr8:18083987 [GRCh38]
Chr8:17941496 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-14T>G single nucleotide variant not provided [RCV002090083] Chr8:18064545 [GRCh38]
Chr8:17922054 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78+17C>G single nucleotide variant not provided [RCV002089023] Chr8:18083964 [GRCh38]
Chr8:17941473 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-18T>C single nucleotide variant not provided [RCV002165153] Chr8:18058909 [GRCh38]
Chr8:17916418 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.217-10T>G single nucleotide variant not provided [RCV002210547] Chr8:18069888 [GRCh38]
Chr8:17927397 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+20G>T single nucleotide variant not provided [RCV002207386] Chr8:18064437 [GRCh38]
Chr8:17921946 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-18C>A single nucleotide variant not provided [RCV002188214] Chr8:18063248 [GRCh38]
Chr8:17920757 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-17T>C single nucleotide variant not provided [RCV002208021] Chr8:18063247 [GRCh38]
Chr8:17920756 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.585C>T (p.Asn195=) single nucleotide variant not provided [RCV002072503] Chr8:18062342 [GRCh38]
Chr8:17919851 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.917+9G>T single nucleotide variant not provided [RCV002149012] Chr8:18059563 [GRCh38]
Chr8:17917072 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.304-19T>G single nucleotide variant not provided [RCV002204967] Chr8:18067317 [GRCh38]
Chr8:17924826 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.45C>T (p.Ala15=) single nucleotide variant not provided [RCV002127631] Chr8:18084014 [GRCh38]
Chr8:17941523 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.217-13A>G single nucleotide variant not provided [RCV002109671] Chr8:18069891 [GRCh38]
Chr8:17927400 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.79-11_79-10del deletion not provided [RCV002085952] Chr8:18075597..18075598 [GRCh38]
Chr8:17933106..17933107 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-15T>A single nucleotide variant not provided [RCV002148972] Chr8:18063245 [GRCh38]
Chr8:17920754 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.57C>G (p.Ala19=) single nucleotide variant not provided [RCV002106538] Chr8:18084002 [GRCh38]
Chr8:17941511 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.135T>A (p.Gly45=) single nucleotide variant not provided [RCV002074681] Chr8:18071381 [GRCh38]
Chr8:17928890 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.649-14del deletion not provided [RCV002186404] Chr8:18061754 [GRCh38]
Chr8:17919263 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-4A>G single nucleotide variant not provided [RCV002129026] Chr8:18059707 [GRCh38]
Chr8:17917216 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.291G>A (p.Val97=) single nucleotide variant not provided [RCV002071055] Chr8:18069804 [GRCh38]
Chr8:17927313 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-7A>G single nucleotide variant not provided [RCV002188306] Chr8:18071397 [GRCh38]
Chr8:17928906 [GRCh37]
Chr8:8p22
likely benign|conflicting interpretations of pathogenicity
NM_177924.5(ASAH1):c.648+15_648+17del microsatellite not provided [RCV002108405] Chr8:18062262..18062264 [GRCh38]
Chr8:17919771..17919773 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+18A>T single nucleotide variant not provided [RCV002167492] Chr8:18071282 [GRCh38]
Chr8:17928791 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.760A>C (p.Arg254=) single nucleotide variant not provided [RCV002166134] Chr8:18061402 [GRCh38]
Chr8:17918911 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-12C>T single nucleotide variant not provided [RCV002088389] Chr8:18071402 [GRCh38]
Chr8:17928911 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.762A>G (p.Arg254=) single nucleotide variant not provided [RCV002125545] Chr8:18061400 [GRCh38]
Chr8:17918909 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.648+9T>A single nucleotide variant not provided [RCV002173542] Chr8:18062270 [GRCh38]
Chr8:17919779 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.642C>T (p.Phe214=) single nucleotide variant not provided [RCV002132878] Chr8:18062285 [GRCh38]
Chr8:17919794 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-18A>T single nucleotide variant not provided [RCV002077927] Chr8:18071408 [GRCh38]
Chr8:17928917 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1098+11T>G single nucleotide variant not provided [RCV002131609] Chr8:18058824 [GRCh38]
Chr8:17916333 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-8T>A single nucleotide variant not provided [RCV002093184] Chr8:18063238 [GRCh38]
Chr8:17920747 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+8A>G single nucleotide variant not provided [RCV002189898] Chr8:18071292 [GRCh38]
Chr8:17928801 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.168A>G (p.Leu56=) single nucleotide variant not provided [RCV002211880] Chr8:18071348 [GRCh38]
Chr8:17928857 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1041+13G>C single nucleotide variant not provided [RCV002113367] Chr8:18059328 [GRCh38]
Chr8:17916837 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.57C>A (p.Ala19=) single nucleotide variant not provided [RCV002095482] Chr8:18084002 [GRCh38]
Chr8:17941511 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.990T>C (p.Leu330=) single nucleotide variant not provided [RCV002173920] Chr8:18059392 [GRCh38]
Chr8:17916901 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.450C>T (p.Asp150=) single nucleotide variant not provided [RCV002173985] Chr8:18064464 [GRCh38]
Chr8:17921973 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-6A>G single nucleotide variant not provided [RCV002116843] Chr8:18059709 [GRCh38]
Chr8:17917218 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.42C>T (p.Ala14=) single nucleotide variant not provided [RCV002080840] Chr8:18084017 [GRCh38]
Chr8:17941526 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+13T>C single nucleotide variant not provided [RCV002135053] Chr8:18067207 [GRCh38]
Chr8:17924716 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.704-17G>A single nucleotide variant not provided [RCV002116940] Chr8:18061475 [GRCh38]
Chr8:17918984 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.843T>C (p.Phe281=) single nucleotide variant not provided [RCV002151126] Chr8:18059646 [GRCh38]
Chr8:17917155 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.303+18T>C single nucleotide variant not provided [RCV002134281] Chr8:18069774 [GRCh38]
Chr8:17927283 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.703+10G>T single nucleotide variant not provided [RCV002152844] Chr8:18061676 [GRCh38]
Chr8:17919185 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-6T>C single nucleotide variant not provided [RCV002094029] Chr8:18071396 [GRCh38]
Chr8:17928905 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.747A>T (p.Ile249=) single nucleotide variant not provided [RCV002094552] Chr8:18061415 [GRCh38]
Chr8:17918924 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.648+8G>A single nucleotide variant not provided [RCV002084632] Chr8:18062271 [GRCh38]
Chr8:17919780 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.669G>C (p.Leu223=) single nucleotide variant not provided [RCV002192959] Chr8:18061720 [GRCh38]
Chr8:17919229 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.504-16A>G single nucleotide variant not provided [RCV002213303] Chr8:18062439 [GRCh38]
Chr8:17919948 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.704-4C>T single nucleotide variant not provided [RCV002208310] Chr8:18061462 [GRCh38]
Chr8:17918971 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.519T>C (p.Asn173=) single nucleotide variant not provided [RCV002113541] Chr8:18062408 [GRCh38]
Chr8:17919917 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.612T>C (p.Phe204=) single nucleotide variant ASAH1-related disorders [RCV004553767]|not provided [RCV002152460] Chr8:18062315 [GRCh38]
Chr8:17919824 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.125+10C>T single nucleotide variant not provided [RCV002195000] Chr8:18075531 [GRCh38]
Chr8:17933040 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1098+19G>A single nucleotide variant not provided [RCV002094653] Chr8:18058816 [GRCh38]
Chr8:17916325 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.921C>G (p.Leu307=) single nucleotide variant not provided [RCV002107173] Chr8:18059461 [GRCh38]
Chr8:17916970 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+12T>C single nucleotide variant not provided [RCV002131809] Chr8:18071288 [GRCh38]
Chr8:17928797 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.544C>T (p.Leu182=) single nucleotide variant not provided [RCV002218283] Chr8:18062383 [GRCh38]
Chr8:17919892 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.480C>T (p.Asn160=) single nucleotide variant not provided [RCV002179007] Chr8:18063208 [GRCh38]
Chr8:17920717 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.917+15T>G single nucleotide variant not provided [RCV002083595] Chr8:18059557 [GRCh38]
Chr8:17917066 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.808T>C (p.Leu270=) single nucleotide variant not provided [RCV002119669] Chr8:18059681 [GRCh38]
Chr8:17917190 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1098+16T>C single nucleotide variant not provided [RCV002081761] Chr8:18058819 [GRCh38]
Chr8:17916328 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-15C>T single nucleotide variant not provided [RCV002123571] Chr8:18071405 [GRCh38]
Chr8:17928914 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+12C>T single nucleotide variant not provided [RCV002098497] Chr8:18061365 [GRCh38]
Chr8:17918874 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.648+19C>T single nucleotide variant not provided [RCV002201941] Chr8:18062260 [GRCh38]
Chr8:17919769 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.75G>A (p.Pro25=) single nucleotide variant not provided [RCV002102542] Chr8:18083984 [GRCh38]
Chr8:17941493 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+13G>A single nucleotide variant not provided [RCV002138327] Chr8:18061364 [GRCh38]
Chr8:17918873 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.594C>T (p.Val198=) single nucleotide variant not provided [RCV002155008] Chr8:18062333 [GRCh38]
Chr8:17919842 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-17T>C single nucleotide variant not provided [RCV002100798] Chr8:18059720 [GRCh38]
Chr8:17917229 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+10C>T single nucleotide variant not provided [RCV002099070] Chr8:18064447 [GRCh38]
Chr8:17921956 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.304-4C>G single nucleotide variant not provided [RCV002202934] Chr8:18067302 [GRCh38]
Chr8:17924811 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.703+19A>T single nucleotide variant not provided [RCV002178479] Chr8:18061667 [GRCh38]
Chr8:17919176 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-17A>C single nucleotide variant not provided [RCV002163288] Chr8:18058908 [GRCh38]
Chr8:17916417 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.704-20dup duplication not provided [RCV002163586] Chr8:18061477..18061478 [GRCh38]
Chr8:17918986..17918987 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1110C>T (p.Tyr370=) single nucleotide variant not provided [RCV002202209] Chr8:18057612 [GRCh38]
Chr8:17915121 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+13G>T single nucleotide variant not provided [RCV002154713] Chr8:18061364 [GRCh38]
Chr8:17918873 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1041+20_1041+21delinsAG indel not provided [RCV002202365] Chr8:18059320..18059321 [GRCh38]
Chr8:17916829..17916830 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-10T>C single nucleotide variant not provided [RCV002181783] Chr8:18058901 [GRCh38]
Chr8:17916410 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-6A>C single nucleotide variant not provided [RCV002181865] Chr8:18059709 [GRCh38]
Chr8:17917218 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-12G>T single nucleotide variant not provided [RCV002184291] Chr8:18059715 [GRCh38]
Chr8:17917224 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.606A>G (p.Ser202=) single nucleotide variant not provided [RCV002082954] Chr8:18062321 [GRCh38]
Chr8:17919830 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1098+18T>C single nucleotide variant not provided [RCV002220327] Chr8:18058817 [GRCh38]
Chr8:17916326 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-20A>T single nucleotide variant not provided [RCV002199763] Chr8:18058911 [GRCh38]
Chr8:17916420 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-18C>T single nucleotide variant not provided [RCV002139102] Chr8:18063248 [GRCh38]
Chr8:17920757 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-15T>C single nucleotide variant not provided [RCV002163053] Chr8:18057638 [GRCh38]
Chr8:17915147 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.918-16C>T single nucleotide variant not provided [RCV002177534] Chr8:18059480 [GRCh38]
Chr8:17916989 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.918-4C>T single nucleotide variant not provided [RCV002175749] Chr8:18059468 [GRCh38]
Chr8:17916977 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+11G>A single nucleotide variant not provided [RCV002159837] Chr8:18064446 [GRCh38]
Chr8:17921955 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.34C>T (p.Leu12=) single nucleotide variant not provided [RCV002118203] Chr8:18084025 [GRCh38]
Chr8:17941534 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.105C>T (p.Thr35=) single nucleotide variant not provided [RCV002161791] Chr8:18075561 [GRCh38]
Chr8:17933070 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.144A>G (p.Pro48=) single nucleotide variant not provided [RCV002143739] Chr8:18071372 [GRCh38]
Chr8:17928881 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1098+19G>T single nucleotide variant not provided [RCV002117507] Chr8:18058816 [GRCh38]
Chr8:17916325 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-8C>T single nucleotide variant not provided [RCV002220591] Chr8:18059711 [GRCh38]
Chr8:17917220 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+11C>G single nucleotide variant not provided [RCV002177404] Chr8:18067209 [GRCh38]
Chr8:17924718 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1149T>C (p.Thr383=) single nucleotide variant not provided [RCV002098380] Chr8:18057573 [GRCh38]
Chr8:17915082 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.60C>T (p.Val20=) single nucleotide variant not provided [RCV002159592] Chr8:18083999 [GRCh38]
Chr8:17941508 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.921C>T (p.Leu307=) single nucleotide variant not provided [RCV002154246] Chr8:18059461 [GRCh38]
Chr8:17916970 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.79-15T>A single nucleotide variant not provided [RCV002139511] Chr8:18075602 [GRCh38]
Chr8:17933111 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.903A>C (p.Ser301=) single nucleotide variant ASAH1-related disorders [RCV004553717]|not provided [RCV002098506] Chr8:18059586 [GRCh38]
Chr8:17917095 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.458-12A>G single nucleotide variant not provided [RCV002198442] Chr8:18063242 [GRCh38]
Chr8:17920751 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.789T>C (p.Tyr263=) single nucleotide variant not provided [RCV002180011] Chr8:18059700 [GRCh38]
Chr8:17917209 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+8_785+9del microsatellite not provided [RCV002155293] Chr8:18061368..18061369 [GRCh38]
Chr8:17918877..17918878 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-14A>G single nucleotide variant not provided [RCV002144234] Chr8:18057637 [GRCh38]
Chr8:17915146 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-12G>A single nucleotide variant not provided [RCV002220206] Chr8:18059715 [GRCh38]
Chr8:17917224 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1104C>T (p.Thr368=) single nucleotide variant not provided [RCV002157665] Chr8:18057618 [GRCh38]
Chr8:17915127 [GRCh37]
Chr8:8p22
likely benign
NC_000008.10:g.(?_17941470)_(17941567_?)dup duplication not provided [RCV003113888] Chr8:17941470..17941567 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17933030)_(17941567_?)dup duplication not provided [RCV003113889] Chr8:17933030..17941567 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17924709)_(17941567_?)dup duplication not provided [RCV003113890] Chr8:17924709..17941567 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.463C>G (p.Leu155Val) single nucleotide variant not provided [RCV003115488] Chr8:18063225 [GRCh38]
Chr8:17920734 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.918-13C>A single nucleotide variant not provided [RCV003112117] Chr8:18059477 [GRCh38]
Chr8:17916986 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1041+18T>C single nucleotide variant not provided [RCV003112886] Chr8:18059323 [GRCh38]
Chr8:17916832 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1166C>G (p.Pro389Arg) single nucleotide variant not provided [RCV003121256] Chr8:18057556 [GRCh38]
Chr8:17915065 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.309C>A (p.Gly103=) single nucleotide variant not provided [RCV003120035] Chr8:18067293 [GRCh38]
Chr8:17924802 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.851G>A (p.Gly284Glu) single nucleotide variant Inborn genetic diseases [RCV004661617]|not provided [RCV003119044] Chr8:18059638 [GRCh38]
Chr8:17917147 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.413A>G (p.Glu138Gly) single nucleotide variant Farber lipogranulomatosis [RCV002250396] Chr8:18064501 [GRCh38]
Chr8:17922010 [GRCh37]
Chr8:8p22
likely pathogenic
NM_004315.6(ASAH1):c.108_114del (p.Ser36fs) deletion not provided [RCV002263473] Chr8:18084688..18084694 [GRCh38]
Chr8:17942197..17942203 [GRCh37]
Chr8:8p22
uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln) single nucleotide variant Spinal muscular atrophy-progressive myoclonic epilepsy syndrome [RCV002289101] Chr8:18057565 [GRCh38]
Chr8:17915074 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1060_1064del (p.Thr353_Met354insTer) deletion not provided [RCV003130307] Chr8:18058869..18058873 [GRCh38]
Chr8:17916378..17916382 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.396A>C (p.Ser132=) single nucleotide variant not provided [RCV002681447] Chr8:18064518 [GRCh38]
Chr8:17922027 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.329G>A (p.Gly110Asp) single nucleotide variant not provided [RCV002303680] Chr8:18067273 [GRCh38]
Chr8:17924782 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.121_125+19del deletion Farber lipogranulomatosis [RCV002465012] Chr8:18075522..18075545 [GRCh38]
Chr8:17933031..17933054 [GRCh37]
Chr8:8p22
likely pathogenic
NC_000008.10:g.(?_17915043)_(20112692_?)dup duplication not provided [RCV003154902] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3
uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22
pathogenic
NM_177924.5(ASAH1):c.953A>T (p.Gln318Leu) single nucleotide variant not provided [RCV002295599] Chr8:18059429 [GRCh38]
Chr8:17916938 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.8G>T (p.Gly3Val) single nucleotide variant not provided [RCV002302391] Chr8:18084051 [GRCh38]
Chr8:17941560 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.984C>T (p.Phe328=) single nucleotide variant not provided [RCV002771308] Chr8:18059398 [GRCh38]
Chr8:17916907 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-12C>T single nucleotide variant not provided [RCV003073863] Chr8:18057635 [GRCh38]
Chr8:17915144 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.917+4A>C single nucleotide variant not provided [RCV002880648] Chr8:18059568 [GRCh38]
Chr8:17917077 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1098+16del deletion not provided [RCV002863354] Chr8:18058819 [GRCh38]
Chr8:17916328 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-1G>C single nucleotide variant not provided [RCV002862532] Chr8:18059704 [GRCh38]
Chr8:17917213 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.174C>T (p.Pro58=) single nucleotide variant not provided [RCV002775245] Chr8:18071342 [GRCh38]
Chr8:17928851 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.420T>C (p.Phe140=) single nucleotide variant not provided [RCV003074201] Chr8:18064494 [GRCh38]
Chr8:17922003 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.517A>G (p.Asn173Asp) single nucleotide variant not provided [RCV002838374] Chr8:18062410 [GRCh38]
Chr8:17919919 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.265C>G (p.Pro89Ala) single nucleotide variant not provided [RCV002816443] Chr8:18069830 [GRCh38]
Chr8:17927339 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.649-4T>C single nucleotide variant not provided [RCV002971289] Chr8:18061744 [GRCh38]
Chr8:17919253 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1098+11T>C single nucleotide variant not provided [RCV002975198] Chr8:18058824 [GRCh38]
Chr8:17916333 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+17G>T single nucleotide variant not provided [RCV002843142] Chr8:18064440 [GRCh38]
Chr8:17921949 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.374T>G (p.Ile125Arg) single nucleotide variant not provided [RCV003034114] Chr8:18067228 [GRCh38]
Chr8:17924737 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+1G>T single nucleotide variant not provided [RCV002858257] Chr8:18075540 [GRCh38]
Chr8:17933049 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.436A>G (p.Ile146Val) single nucleotide variant not provided [RCV002726665] Chr8:18064478 [GRCh38]
Chr8:17921987 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.637G>C (p.Gly213Arg) single nucleotide variant not provided [RCV002839011] Chr8:18062290 [GRCh38]
Chr8:17919799 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.216+14C>A single nucleotide variant not provided [RCV002731367] Chr8:18071286 [GRCh38]
Chr8:17928795 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1091T>C (p.Leu364Pro) single nucleotide variant Inborn genetic diseases [RCV002906505] Chr8:18058842 [GRCh38]
Chr8:17916351 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1131C>T (p.Thr377=) single nucleotide variant not provided [RCV002863108] Chr8:18057591 [GRCh38]
Chr8:17915100 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.79-18A>G single nucleotide variant not provided [RCV002971955] Chr8:18075605 [GRCh38]
Chr8:17933114 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.455_456del (p.Lys152fs) deletion not provided [RCV002903525] Chr8:18064458..18064459 [GRCh38]
Chr8:17921967..17921968 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.323T>C (p.Phe108Ser) single nucleotide variant Inborn genetic diseases [RCV002805680]|not provided [RCV002771030] Chr8:18067279 [GRCh38]
Chr8:17924788 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.649-19T>G single nucleotide variant not provided [RCV002730121] Chr8:18061759 [GRCh38]
Chr8:17919268 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1027C>A (p.Arg343Ser) single nucleotide variant not provided [RCV002616465] Chr8:18059355 [GRCh38]
Chr8:17916864 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.521A>G (p.Asp174Gly) single nucleotide variant not provided [RCV002755984] Chr8:18062406 [GRCh38]
Chr8:17919915 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.304-13A>G single nucleotide variant not provided [RCV002996655] Chr8:18067311 [GRCh38]
Chr8:17924820 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78G>C (p.Pro26=) single nucleotide variant not provided [RCV002685615] Chr8:18083981 [GRCh38]
Chr8:17941490 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.818C>T (p.Thr273Ile) single nucleotide variant not provided [RCV002842938] Chr8:18059671 [GRCh38]
Chr8:17917180 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.126-13C>G single nucleotide variant not provided [RCV002727339] Chr8:18071403 [GRCh38]
Chr8:17928912 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1119G>A (p.Leu373=) single nucleotide variant not provided [RCV002690118] Chr8:18057603 [GRCh38]
Chr8:17915112 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.918-14C>T single nucleotide variant not provided [RCV002880431] Chr8:18059478 [GRCh38]
Chr8:17916987 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.248T>A (p.Met83Lys) single nucleotide variant not provided [RCV003039454] Chr8:18069847 [GRCh38]
Chr8:17927356 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+20T>C single nucleotide variant not provided [RCV002796151] Chr8:18075521 [GRCh38]
Chr8:17933030 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.469C>T (p.His157Tyr) single nucleotide variant Inborn genetic diseases [RCV002762654]|not provided [RCV003730278] Chr8:18063219 [GRCh38]
Chr8:17920728 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.11:g.18064531_18064533del deletion not provided [RCV002735501] Chr8:18064529..18064531 [GRCh38]
Chr8:17922038..17922040 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1099-11T>G single nucleotide variant not provided [RCV002623150] Chr8:18057634 [GRCh38]
Chr8:17915143 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.952C>T (p.Gln318Ter) single nucleotide variant not provided [RCV003022036] Chr8:18059430 [GRCh38]
Chr8:17916939 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.909T>C (p.Asp303=) single nucleotide variant not provided [RCV002949624] Chr8:18059580 [GRCh38]
Chr8:17917089 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.704-11A>C single nucleotide variant not provided [RCV002637647] Chr8:18061469 [GRCh38]
Chr8:17918978 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.323T>A (p.Phe108Tyr) single nucleotide variant not provided [RCV003053770] Chr8:18067279 [GRCh38]
Chr8:17924788 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+17T>A single nucleotide variant not provided [RCV002953518] Chr8:18075524 [GRCh38]
Chr8:17933033 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1140A>G (p.Gln380=) single nucleotide variant not provided [RCV002622816] Chr8:18057582 [GRCh38]
Chr8:17915091 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.826T>C (p.Leu276=) single nucleotide variant not provided [RCV002636386] Chr8:18059663 [GRCh38]
Chr8:17917172 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1010C>T (p.Ala337Val) single nucleotide variant not provided [RCV003035777] Chr8:18059372 [GRCh38]
Chr8:17916881 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.968G>T (p.Arg323Leu) single nucleotide variant not provided [RCV002978972] Chr8:18059414 [GRCh38]
Chr8:17916923 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.208del (p.Ala70fs) deletion not provided [RCV003018171] Chr8:18071308 [GRCh38]
Chr8:17928817 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1159G>A (p.Asp387Asn) single nucleotide variant not provided [RCV002867225] Chr8:18057563 [GRCh38]
Chr8:17915072 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.826T>G (p.Leu276Val) single nucleotide variant not provided [RCV002923169] Chr8:18059663 [GRCh38]
Chr8:17917172 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.177C>T (p.Tyr59=) single nucleotide variant not provided [RCV002780792] Chr8:18071339 [GRCh38]
Chr8:17928848 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.474G>T (p.Gly158=) single nucleotide variant not provided [RCV003036798] Chr8:18063214 [GRCh38]
Chr8:17920723 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.382G>A (p.Gly128Arg) single nucleotide variant not provided [RCV003020654] Chr8:18067220 [GRCh38]
Chr8:17924729 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1098+17A>G single nucleotide variant not provided [RCV002867446] Chr8:18058818 [GRCh38]
Chr8:17916327 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.79-5T>C single nucleotide variant not provided [RCV002820495] Chr8:18075592 [GRCh38]
Chr8:17933101 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-4T>A single nucleotide variant not provided [RCV003077897] Chr8:18058895 [GRCh38]
Chr8:17916404 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.821A>G (p.Lys274Arg) single nucleotide variant not provided [RCV002781019] Chr8:18059668 [GRCh38]
Chr8:17917177 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.437T>C (p.Ile146Thr) single nucleotide variant not provided [RCV003037279] Chr8:18064477 [GRCh38]
Chr8:17921986 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.648+10C>T single nucleotide variant not provided [RCV003052912] Chr8:18062269 [GRCh38]
Chr8:17919778 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.650G>A (p.Gly217Glu) single nucleotide variant not provided [RCV002638447] Chr8:18061739 [GRCh38]
Chr8:17919248 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1043A>G (p.Asn348Ser) single nucleotide variant not provided [RCV002639375] Chr8:18058890 [GRCh38]
Chr8:17916399 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+14A>C single nucleotide variant not provided [RCV002592762] Chr8:18075527 [GRCh38]
Chr8:17933036 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.917+20C>G single nucleotide variant not provided [RCV002620220] Chr8:18059552 [GRCh38]
Chr8:17917061 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.703+17C>G single nucleotide variant not provided [RCV003053191] Chr8:18061669 [GRCh38]
Chr8:17919178 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.306T>C (p.Pro102=) single nucleotide variant not provided [RCV003054164] Chr8:18067296 [GRCh38]
Chr8:17924805 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-13C>T single nucleotide variant not provided [RCV003079867] Chr8:18071403 [GRCh38]
Chr8:17928912 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1021C>G (p.Leu341Val) single nucleotide variant not provided [RCV002999644] Chr8:18059361 [GRCh38]
Chr8:17916870 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1078A>G (p.Thr360Ala) single nucleotide variant not provided [RCV003019199] Chr8:18058855 [GRCh38]
Chr8:17916364 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786-15A>G single nucleotide variant not provided [RCV003019224] Chr8:18059718 [GRCh38]
Chr8:17917227 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.304C>T (p.Pro102Ser) single nucleotide variant not provided [RCV002780659] Chr8:18067298 [GRCh38]
Chr8:17924807 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.30C>T (p.Val10=) single nucleotide variant not provided [RCV002569764] Chr8:18084029 [GRCh38]
Chr8:17941538 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.967C>G (p.Arg323Gly) single nucleotide variant not provided [RCV002867905] Chr8:18059415 [GRCh38]
Chr8:17916924 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.125+10C>G single nucleotide variant not provided [RCV002847035] Chr8:18075531 [GRCh38]
Chr8:17933040 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+14A>G single nucleotide variant not provided [RCV002927592] Chr8:18067206 [GRCh38]
Chr8:17924715 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+7G>C single nucleotide variant not provided [RCV002867931] Chr8:18064450 [GRCh38]
Chr8:17921959 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.649-2_649-1del deletion not provided [RCV002790203] Chr8:18061741..18061742 [GRCh38]
Chr8:17919250..17919251 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.322T>G (p.Phe108Val) single nucleotide variant not provided [RCV002957824] Chr8:18067280 [GRCh38]
Chr8:17924789 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.74C>A (p.Pro25Gln) single nucleotide variant not provided [RCV002791352] Chr8:18083985 [GRCh38]
Chr8:17941494 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.339A>G (p.Glu113=) single nucleotide variant not provided [RCV003082652] Chr8:18067263 [GRCh38]
Chr8:17924772 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.786-20T>A single nucleotide variant not provided [RCV002805287] Chr8:18059723 [GRCh38]
Chr8:17917232 [GRCh37]
Chr8:8p22
likely benign
NM_004315.6(ASAH1):c.101T>C (p.Phe34Ser) single nucleotide variant Inborn genetic diseases [RCV002713436] Chr8:18084701 [GRCh38]
Chr8:17942210 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.806T>C (p.Leu269Ser) single nucleotide variant not provided [RCV003043086] Chr8:18059683 [GRCh38]
Chr8:17917192 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.918-7T>C single nucleotide variant not provided [RCV002627243] Chr8:18059471 [GRCh38]
Chr8:17916980 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.121C>T (p.Pro41Ser) single nucleotide variant not provided [RCV002928237] Chr8:18075545 [GRCh38]
Chr8:17933054 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1138C>T (p.Gln380Ter) single nucleotide variant not provided [RCV002853325] Chr8:18057584 [GRCh38]
Chr8:17915093 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.78+15G>C single nucleotide variant not provided [RCV002829848] Chr8:18083966 [GRCh38]
Chr8:17941475 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.369T>C (p.Thr123=) single nucleotide variant not provided [RCV002667844] Chr8:18067233 [GRCh38]
Chr8:17924742 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+19T>A single nucleotide variant not provided [RCV002574048] Chr8:18061358 [GRCh38]
Chr8:17918867 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+4A>C single nucleotide variant not provided [RCV003040727] Chr8:18061373 [GRCh38]
Chr8:17918882 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.458-1G>A single nucleotide variant not provided [RCV002872685] Chr8:18063231 [GRCh38]
Chr8:17920740 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.365T>C (p.Val122Ala) single nucleotide variant not provided [RCV003040934] Chr8:18067237 [GRCh38]
Chr8:17924746 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.550C>T (p.Pro184Ser) single nucleotide variant not provided [RCV003041737] Chr8:18062377 [GRCh38]
Chr8:17919886 [GRCh37]
Chr8:8p22
uncertain significance
NM_004315.6(ASAH1):c.126+5G>T single nucleotide variant Inborn genetic diseases [RCV002826844] Chr8:18084671 [GRCh38]
Chr8:17942180 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1042-13_1042-12delinsAT indel not provided [RCV002825727] Chr8:18058903..18058904 [GRCh38]
Chr8:17916412..17916413 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.424A>G (p.Ile142Val) single nucleotide variant not provided [RCV002643434] Chr8:18064490 [GRCh38]
Chr8:17921999 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.95G>A (p.Arg32Lys) single nucleotide variant Inborn genetic diseases [RCV002697399] Chr8:18075571 [GRCh38]
Chr8:17933080 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.160C>T (p.Leu54Phe) single nucleotide variant not provided [RCV002830044] Chr8:18071356 [GRCh38]
Chr8:17928865 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.5C>T (p.Pro2Leu) single nucleotide variant not provided [RCV002919168] Chr8:18084054 [GRCh38]
Chr8:17941563 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.704-20A>G single nucleotide variant not provided [RCV003024756] Chr8:18061478 [GRCh38]
Chr8:17918987 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.470A>G (p.His157Arg) single nucleotide variant not provided [RCV003040880] Chr8:18063218 [GRCh38]
Chr8:17920727 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.192A>G (p.Glu64=) single nucleotide variant not provided [RCV002741290] Chr8:18071324 [GRCh38]
Chr8:17928833 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1117T>C (p.Leu373=) single nucleotide variant not provided [RCV002643559] Chr8:18057605 [GRCh38]
Chr8:17915114 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.648+11T>C single nucleotide variant not provided [RCV002572943] Chr8:18062268 [GRCh38]
Chr8:17919777 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.726A>C (p.Gly242=) single nucleotide variant not provided [RCV003006264] Chr8:18061436 [GRCh38]
Chr8:17918945 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-2A>G single nucleotide variant not provided [RCV002710405] Chr8:18057625 [GRCh38]
Chr8:17915134 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.882T>G (p.Ile294Met) single nucleotide variant not provided [RCV002596196] Chr8:18059607 [GRCh38]
Chr8:17917116 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.79-17T>C single nucleotide variant not provided [RCV002928650] Chr8:18075604 [GRCh38]
Chr8:17933113 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.751T>C (p.Phe251Leu) single nucleotide variant not provided [RCV003056858] Chr8:18061411 [GRCh38]
Chr8:17918920 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.15T>A (p.Ser5Arg) single nucleotide variant not provided [RCV002700798] Chr8:18084044 [GRCh38]
Chr8:17941553 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.6G>C (p.Pro2=) single nucleotide variant not provided [RCV002745371] Chr8:18084053 [GRCh38]
Chr8:17941562 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.257C>T (p.Thr86Ile) single nucleotide variant not provided [RCV002766445] Chr8:18069838 [GRCh38]
Chr8:17927347 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.663_666del (p.Leu221_Thr222insTer) deletion not provided [RCV002700995] Chr8:18061723..18061726 [GRCh38]
Chr8:17919232..17919235 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1041+3A>G single nucleotide variant not provided [RCV002830056] Chr8:18059338 [GRCh38]
Chr8:17916847 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1004C>G (p.Thr335Arg) single nucleotide variant not provided [RCV003024551] Chr8:18059378 [GRCh38]
Chr8:17916887 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.462T>A (p.His154Gln) single nucleotide variant not provided [RCV003039779] Chr8:18063226 [GRCh38]
Chr8:17920735 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.217-13del deletion not provided [RCV003048679] Chr8:18069891 [GRCh38]
Chr8:17927400 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-14A>G single nucleotide variant not provided [RCV002582007] Chr8:18071404 [GRCh38]
Chr8:17928913 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.931C>T (p.Gln311Ter) single nucleotide variant not provided [RCV002628595] Chr8:18059451 [GRCh38]
Chr8:17916960 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.4C>T (p.Pro2Ser) single nucleotide variant not provided [RCV002672071] Chr8:18084055 [GRCh38]
Chr8:17941564 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.662T>C (p.Leu221Pro) single nucleotide variant not provided [RCV002720306] Chr8:18061727 [GRCh38]
Chr8:17919236 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.617G>A (p.Gly206Asp) single nucleotide variant not provided [RCV003065869] Chr8:18062310 [GRCh38]
Chr8:17919819 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.69C>A (p.His23Gln) single nucleotide variant not provided [RCV002582097] Chr8:18083990 [GRCh38]
Chr8:17941499 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.750G>A (p.Gly250=) single nucleotide variant not provided [RCV003065652] Chr8:18061412 [GRCh38]
Chr8:17918921 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.12G>C (p.Arg4=) single nucleotide variant not provided [RCV002966608] Chr8:18084047 [GRCh38]
Chr8:17941556 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.904T>C (p.Leu302=) single nucleotide variant not provided [RCV003087616] Chr8:18059585 [GRCh38]
Chr8:17917094 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-10C>G single nucleotide variant not provided [RCV002877262] Chr8:18071400 [GRCh38]
Chr8:17928909 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.308G>A (p.Gly103Asp) single nucleotide variant not provided [RCV002578412] Chr8:18067294 [GRCh38]
Chr8:17924803 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.57C>T (p.Ala19=) single nucleotide variant not provided [RCV002770741] Chr8:18084002 [GRCh38]
Chr8:17941511 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.209C>T (p.Ala70Val) single nucleotide variant not provided [RCV003028538] Chr8:18071307 [GRCh38]
Chr8:17928816 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.217-15T>A single nucleotide variant not provided [RCV002834548] Chr8:18069893 [GRCh38]
Chr8:17927402 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.185G>A (p.Trp62Ter) single nucleotide variant not provided [RCV002962125] Chr8:18071331 [GRCh38]
Chr8:17928840 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.661C>G (p.Leu221Val) single nucleotide variant not provided [RCV002962598] Chr8:18061728 [GRCh38]
Chr8:17919237 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.540G>A (p.Glu180=) single nucleotide variant not provided [RCV002898728] Chr8:18062387 [GRCh38]
Chr8:17919896 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+20T>C single nucleotide variant not provided [RCV003086569] Chr8:18071280 [GRCh38]
Chr8:17928789 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1050A>G (p.Ser350=) single nucleotide variant not provided [RCV002921887] Chr8:18058883 [GRCh38]
Chr8:17916392 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.778A>G (p.Ser260Gly) single nucleotide variant not provided [RCV002598162] Chr8:18061384 [GRCh38]
Chr8:17918893 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.503+19G>A single nucleotide variant not provided [RCV003044290] Chr8:18063166 [GRCh38]
Chr8:17920675 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.182G>A (p.Arg61Lys) single nucleotide variant not provided [RCV002597498] Chr8:18071334 [GRCh38]
Chr8:17928843 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.126-5T>C single nucleotide variant not provided [RCV002962286] Chr8:18071395 [GRCh38]
Chr8:17928904 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1098+8A>G single nucleotide variant not provided [RCV003046982] Chr8:18058827 [GRCh38]
Chr8:17916336 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.649-11C>G single nucleotide variant not provided [RCV003091139] Chr8:18061751 [GRCh38]
Chr8:17919260 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.371A>C (p.Asp124Ala) single nucleotide variant not provided [RCV002792018] Chr8:18067231 [GRCh38]
Chr8:17924740 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.268A>G (p.Ser90Gly) single nucleotide variant not provided [RCV002900089] Chr8:18069827 [GRCh38]
Chr8:17927336 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.299A>T (p.Lys100Ile) single nucleotide variant not provided [RCV002650476] Chr8:18069796 [GRCh38]
Chr8:17927305 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.648+12G>C single nucleotide variant not provided [RCV002835232] Chr8:18062267 [GRCh38]
Chr8:17919776 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.173C>T (p.Pro58Leu) single nucleotide variant not provided [RCV003090038] Chr8:18071343 [GRCh38]
Chr8:17928852 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.126-14A>C single nucleotide variant not provided [RCV002876912] Chr8:18071404 [GRCh38]
Chr8:17928913 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.158A>G (p.Asn53Ser) single nucleotide variant not provided [RCV003030255] Chr8:18071358 [GRCh38]
Chr8:17928867 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.423C>T (p.Thr141=) single nucleotide variant not provided [RCV002629820] Chr8:18064491 [GRCh38]
Chr8:17922000 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.384A>T (p.Gly128=) single nucleotide variant not provided [RCV002717028] Chr8:18064530 [GRCh38]
Chr8:17922039 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.665C>T (p.Thr222Ile) single nucleotide variant not provided [RCV002938191] Chr8:18061724 [GRCh38]
Chr8:17919233 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.48C>G (p.Val16=) single nucleotide variant not provided [RCV003087815] Chr8:18084011 [GRCh38]
Chr8:17941520 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.240G>A (p.Leu80=) single nucleotide variant not provided [RCV003030051] Chr8:18069855 [GRCh38]
Chr8:17927364 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.503+13C>G single nucleotide variant not provided [RCV002857447] Chr8:18063172 [GRCh38]
Chr8:17920681 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.163G>C (p.Asp55His) single nucleotide variant not provided [RCV002717220] Chr8:18071353 [GRCh38]
Chr8:17928862 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.649-7_649-6del deletion not provided [RCV002627819] Chr8:18061746..18061747 [GRCh38]
Chr8:17919255..17919256 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.30C>A (p.Val10=) single nucleotide variant not provided [RCV002581245] Chr8:18084029 [GRCh38]
Chr8:17941538 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1027C>T (p.Arg343Cys) single nucleotide variant not provided [RCV002598356] Chr8:18059355 [GRCh38]
Chr8:17916864 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.704-19T>G single nucleotide variant not provided [RCV002633903] Chr8:18061477 [GRCh38]
Chr8:17918986 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.816G>T (p.Lys272Asn) single nucleotide variant not provided [RCV003067147] Chr8:18059673 [GRCh38]
Chr8:17917182 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.667C>A (p.Leu223Met) single nucleotide variant not provided [RCV003052050] Chr8:18061722 [GRCh38]
Chr8:17919231 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1117T>G (p.Leu373Val) single nucleotide variant not provided [RCV003066265] Chr8:18057605 [GRCh38]
Chr8:17915114 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1071C>T (p.Val357=) single nucleotide variant not provided [RCV003093081] Chr8:18058862 [GRCh38]
Chr8:17916371 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126G>A (p.Thr42=) single nucleotide variant not provided [RCV003049975] Chr8:18071390 [GRCh38]
Chr8:17928899 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.800A>C (p.Lys267Thr) single nucleotide variant not provided [RCV003066648] Chr8:18059689 [GRCh38]
Chr8:17917198 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.243G>A (p.Lys81=) single nucleotide variant not provided [RCV002584883] Chr8:18069852 [GRCh38]
Chr8:17927361 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.813C>G (p.Thr271=) single nucleotide variant not provided [RCV002721657] Chr8:18059676 [GRCh38]
Chr8:17917185 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.482T>C (p.Met161Thr) single nucleotide variant not provided [RCV002610029] Chr8:18063206 [GRCh38]
Chr8:17920715 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.773A>T (p.Glu258Val) single nucleotide variant not provided [RCV003068692] Chr8:18061389 [GRCh38]
Chr8:17918898 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.837C>G (p.Ala279=) single nucleotide variant not provided [RCV002587965] Chr8:18059652 [GRCh38]
Chr8:17917161 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78+16C>T single nucleotide variant not provided [RCV003093443] Chr8:18083965 [GRCh38]
Chr8:17941474 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.466A>G (p.Ile156Val) single nucleotide variant not provided [RCV003070951] Chr8:18063222 [GRCh38]
Chr8:17920731 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.458-5A>C single nucleotide variant not provided [RCV003071032] Chr8:18063235 [GRCh38]
Chr8:17920744 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.32T>G (p.Leu11Arg) single nucleotide variant not provided [RCV003071078] Chr8:18084027 [GRCh38]
Chr8:17941536 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.703+1G>A single nucleotide variant not provided [RCV003072173] Chr8:18061685 [GRCh38]
Chr8:17919194 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1089C>T (p.Val363=) single nucleotide variant not provided [RCV003066738] Chr8:18058844 [GRCh38]
Chr8:17916353 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.765A>G (p.Thr255=) single nucleotide variant not provided [RCV003068058] Chr8:18061397 [GRCh38]
Chr8:17918906 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1178T>G (p.Ile393Arg) single nucleotide variant not provided [RCV002635337] Chr8:18057544 [GRCh38]
Chr8:17915053 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.452A>G (p.Lys151Arg) single nucleotide variant not provided [RCV002942275] Chr8:18064462 [GRCh38]
Chr8:17921971 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.383-18A>T single nucleotide variant not provided [RCV002725900] Chr8:18064549 [GRCh38]
Chr8:17922058 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78+11T>C single nucleotide variant not provided [RCV002610566] Chr8:18083970 [GRCh38]
Chr8:17941479 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-17A>G single nucleotide variant not provided [RCV002612596] Chr8:18058908 [GRCh38]
Chr8:17916417 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1016T>A (p.Met339Lys) single nucleotide variant not specified [RCV003155604] Chr8:18059366 [GRCh38]
Chr8:17916875 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.216+3A>T single nucleotide variant not provided [RCV003141555] Chr8:18071297 [GRCh38]
Chr8:17928806 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.383-39del deletion not provided [RCV003141557] Chr8:18064570 [GRCh38]
Chr8:17922079 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.835G>C (p.Ala279Pro) single nucleotide variant not provided [RCV003141558] Chr8:18059654 [GRCh38]
Chr8:17917163 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.194T>G (p.Leu65Trp) single nucleotide variant not provided [RCV003141559] Chr8:18071322 [GRCh38]
Chr8:17928831 [GRCh37]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
NM_177924.5(ASAH1):c.77C>T (p.Pro26Leu) single nucleotide variant Farber lipogranulomatosis [RCV003338211] Chr8:18083982 [GRCh38]
Chr8:17941491 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.918-8G>A single nucleotide variant not provided [RCV003543747] Chr8:18059472 [GRCh38]
Chr8:17916981 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-1G>C single nucleotide variant not provided [RCV003875733] Chr8:18064532 [GRCh38]
Chr8:17922041 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.126-12C>G single nucleotide variant not provided [RCV003874267] Chr8:18071402 [GRCh38]
Chr8:17928911 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.621T>A (p.Tyr207Ter) single nucleotide variant not provided [RCV003543106] Chr8:18062306 [GRCh38]
Chr8:17919815 [GRCh37]
Chr8:8p22
pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
GRCh37/hg19 8p22(chr8:17782821-18519318)x3 copy number gain not provided [RCV003484728] Chr8:17782821..18519318 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
NM_177924.5(ASAH1):c.*618C>T single nucleotide variant not provided [RCV003436781] Chr8:18056916 [GRCh38]
Chr8:17914425 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.33C>A (p.Leu11=) single nucleotide variant not provided [RCV003694157] Chr8:18084026 [GRCh38]
Chr8:17941535 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1041+11A>G single nucleotide variant not provided [RCV003849158] Chr8:18059330 [GRCh38]
Chr8:17916839 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.460C>T (p.His154Tyr) single nucleotide variant not provided [RCV003490481] Chr8:18063228 [GRCh38]
Chr8:17920737 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.864T>G (p.Ser288=) single nucleotide variant not provided [RCV003739077] Chr8:18059625 [GRCh38]
Chr8:17917134 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+11T>C single nucleotide variant not provided [RCV003877045] Chr8:18061366 [GRCh38]
Chr8:17918875 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.704-15_704-14del microsatellite not provided [RCV003740251] Chr8:18061472..18061473 [GRCh38]
Chr8:17918981..17918982 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.744G>A (p.Trp248Ter) single nucleotide variant not provided [RCV003579234] Chr8:18061418 [GRCh38]
Chr8:17918927 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.504-9C>G single nucleotide variant not provided [RCV003579235] Chr8:18062432 [GRCh38]
Chr8:17919941 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.633A>G (p.Leu211=) single nucleotide variant not provided [RCV003547392] Chr8:18062294 [GRCh38]
Chr8:17919803 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.965A>T (p.Asp322Val) single nucleotide variant not provided [RCV003688056] Chr8:18059417 [GRCh38]
Chr8:17916926 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.648+12G>A single nucleotide variant not provided [RCV003715409] Chr8:18062267 [GRCh38]
Chr8:17919776 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.759T>C (p.Thr253=) single nucleotide variant not provided [RCV003738687] Chr8:18061403 [GRCh38]
Chr8:17918912 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+18A>C single nucleotide variant not provided [RCV003688609] Chr8:18071282 [GRCh38]
Chr8:17928791 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.846C>T (p.Ile282=) single nucleotide variant not provided [RCV003687140] Chr8:18059643 [GRCh38]
Chr8:17917152 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+13G>A single nucleotide variant not provided [RCV003876550] Chr8:18071287 [GRCh38]
Chr8:17928796 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.216+13G>C single nucleotide variant not provided [RCV003712962] Chr8:18071287 [GRCh38]
Chr8:17928796 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1041+1G>T single nucleotide variant not provided [RCV003688055] Chr8:18059340 [GRCh38]
Chr8:17916849 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1102A>G (p.Thr368Ala) single nucleotide variant not provided [RCV003831009] Chr8:18057620 [GRCh38]
Chr8:17915129 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.503+13C>T single nucleotide variant not provided [RCV003714661] Chr8:18063172 [GRCh38]
Chr8:17920681 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.918-20A>T single nucleotide variant not provided [RCV003578841] Chr8:18059484 [GRCh38]
Chr8:17916993 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+9G>A single nucleotide variant not provided [RCV003544498] Chr8:18064448 [GRCh38]
Chr8:17921957 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.561G>C (p.Val187=) single nucleotide variant not provided [RCV003879524] Chr8:18062366 [GRCh38]
Chr8:17919875 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.342G>A (p.Glu114=) single nucleotide variant not provided [RCV003686692] Chr8:18067260 [GRCh38]
Chr8:17924769 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.564T>C (p.Asn188=) single nucleotide variant not provided [RCV003811587] Chr8:18062363 [GRCh38]
Chr8:17919872 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.340G>T (p.Glu114Ter) single nucleotide variant not provided [RCV003701566] Chr8:18067262 [GRCh38]
Chr8:17924771 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1050A>T (p.Ser350=) single nucleotide variant not provided [RCV003550124] Chr8:18058883 [GRCh38]
Chr8:17916392 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.653T>C (p.Leu218Pro) single nucleotide variant not provided [RCV003561673] Chr8:18061736 [GRCh38]
Chr8:17919245 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.303+11T>C single nucleotide variant not provided [RCV003726722] Chr8:18069781 [GRCh38]
Chr8:17927290 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.193T>C (p.Leu65=) single nucleotide variant not provided [RCV003670152] Chr8:18071323 [GRCh38]
Chr8:17928832 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042_1045del (p.Asn348fs) deletion not provided [RCV003580863] Chr8:18058888..18058891 [GRCh38]
Chr8:17916397..17916400 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.310C>T (p.Leu104=) single nucleotide variant not provided [RCV003699160] Chr8:18067292 [GRCh38]
Chr8:17924801 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.213_214delinsGA (p.Val72Met) indel not provided [RCV003699441] Chr8:18071302..18071303 [GRCh38]
Chr8:17928811..17928812 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-18T>A single nucleotide variant not provided [RCV003669610] Chr8:18058909 [GRCh38]
Chr8:17916418 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.383-5C>T single nucleotide variant not provided [RCV003673607] Chr8:18064536 [GRCh38]
Chr8:17922045 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.785+10T>A single nucleotide variant not provided [RCV003580473] Chr8:18061367 [GRCh38]
Chr8:17918876 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.53dup (p.Cys18fs) duplication not provided [RCV003560521] Chr8:18084005..18084006 [GRCh38]
Chr8:17941514..17941515 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.217-18A>G single nucleotide variant not provided [RCV003579617] Chr8:18069896 [GRCh38]
Chr8:17927405 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.885A>C (p.Thr295=) single nucleotide variant not provided [RCV003698513] Chr8:18059604 [GRCh38]
Chr8:17917113 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1182T>G (p.Gly394=) single nucleotide variant not provided [RCV003697166] Chr8:18057540 [GRCh38]
Chr8:17915049 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.937A>C (p.Arg313=) single nucleotide variant not provided [RCV003716824] Chr8:18059445 [GRCh38]
Chr8:17916954 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-10C>T single nucleotide variant not provided [RCV003665023] Chr8:18071400 [GRCh38]
Chr8:17928909 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV003724064] Chr8:18084018 [GRCh38]
Chr8:17941527 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.704-11A>G single nucleotide variant not provided [RCV003863905] Chr8:18061469 [GRCh38]
Chr8:17918978 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1_2delinsCG (p.Met1Arg) indel not provided [RCV003735564] Chr8:18084057..18084058 [GRCh38]
Chr8:17941566..17941567 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.649-13G>T single nucleotide variant not provided [RCV003677389] Chr8:18061753 [GRCh38]
Chr8:17919262 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.78+17C>T single nucleotide variant not provided [RCV003841841] Chr8:18083964 [GRCh38]
Chr8:17941473 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1099-17A>C single nucleotide variant not provided [RCV003680244] Chr8:18057640 [GRCh38]
Chr8:17915149 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1086T>C (p.Pro362=) single nucleotide variant not provided [RCV003728417] Chr8:18058847 [GRCh38]
Chr8:17916356 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1133A>T (p.Lys378Ile) single nucleotide variant Inborn genetic diseases [RCV004661804]|not provided [RCV003864265] Chr8:18057589 [GRCh38]
Chr8:17915098 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.458-11C>T single nucleotide variant not provided [RCV003819239] Chr8:18063241 [GRCh38]
Chr8:17920750 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1042-2A>C single nucleotide variant Farber lipogranulomatosis [RCV004784169]|not provided [RCV003681456] Chr8:18058893 [GRCh38]
Chr8:17916402 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.33C>G (p.Leu11=) single nucleotide variant not provided [RCV003822049] Chr8:18084026 [GRCh38]
Chr8:17941535 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.669G>A (p.Leu223=) single nucleotide variant not provided [RCV003551122] Chr8:18061720 [GRCh38]
Chr8:17919229 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.649-2A>T single nucleotide variant not provided [RCV003682624] Chr8:18061742 [GRCh38]
Chr8:17919251 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.10C>A (p.Arg4=) single nucleotide variant not provided [RCV003555537] Chr8:18084049 [GRCh38]
Chr8:17941558 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457+17G>A single nucleotide variant not provided [RCV003564766] Chr8:18064440 [GRCh38]
Chr8:17921949 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1041+15T>A single nucleotide variant not provided [RCV003737585] Chr8:18059326 [GRCh38]
Chr8:17916835 [GRCh37]
Chr8:8p22
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177924.5(ASAH1):c.457+1G>A single nucleotide variant not provided [RCV003681162] Chr8:18064456 [GRCh38]
Chr8:17921965 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.78+7G>A single nucleotide variant not provided [RCV003871603] Chr8:18083974 [GRCh38]
Chr8:17941483 [GRCh37]
Chr8:8p22
likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_177924.5(ASAH1):c.918-16C>A single nucleotide variant not provided [RCV003719751] Chr8:18059480 [GRCh38]
Chr8:17916989 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.648+15G>T single nucleotide variant not provided [RCV003718800] Chr8:18062264 [GRCh38]
Chr8:17919773 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.867G>T (p.Gly289=) single nucleotide variant not provided [RCV003868337] Chr8:18059622 [GRCh38]
Chr8:17917131 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+9C>T single nucleotide variant not provided [RCV003684750] Chr8:18067211 [GRCh38]
Chr8:17924720 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.917+2T>G single nucleotide variant not provided [RCV003678272] Chr8:18059570 [GRCh38]
Chr8:17917079 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.786-18T>A single nucleotide variant not provided [RCV003683934] Chr8:18059721 [GRCh38]
Chr8:17917230 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.697T>C (p.Tyr233His) single nucleotide variant not provided [RCV003722589] Chr8:18061692 [GRCh38]
Chr8:17919201 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.525C>G (p.Thr175=) single nucleotide variant not provided [RCV003737385] Chr8:18062402 [GRCh38]
Chr8:17919911 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.918-4C>G single nucleotide variant not provided [RCV003556884] Chr8:18059468 [GRCh38]
Chr8:17916977 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.849G>C (p.Leu283=) single nucleotide variant not provided [RCV003682756] Chr8:18059640 [GRCh38]
Chr8:17917149 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.150C>T (p.Tyr50=) single nucleotide variant not provided [RCV003818250] Chr8:18071366 [GRCh38]
Chr8:17928875 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.1031C>T (p.Thr344Ile) single nucleotide variant not provided [RCV003703934] Chr8:18059351 [GRCh38]
Chr8:17916860 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.330C>A (p.Gly110=) single nucleotide variant not provided [RCV003677053] Chr8:18067272 [GRCh38]
Chr8:17924781 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.24C>T (p.Ala8=) single nucleotide variant not provided [RCV003821048] Chr8:18084035 [GRCh38]
Chr8:17941544 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.382+18G>A single nucleotide variant not provided [RCV003674963] Chr8:18067202 [GRCh38]
Chr8:17924711 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.906G>A (p.Leu302=) single nucleotide variant not provided [RCV003552489] Chr8:18059583 [GRCh38]
Chr8:17917092 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg) single nucleotide variant Farber lipogranulomatosis [RCV003993554] Chr8:18064457 [GRCh38]
Chr8:17921966 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.1031C>G (p.Thr344Ser) single nucleotide variant Inborn genetic diseases [RCV004420437] Chr8:18059351 [GRCh38]
Chr8:17916860 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.782C>T (p.Thr261Ile) single nucleotide variant Inborn genetic diseases [RCV004420438] Chr8:18061380 [GRCh38]
Chr8:17918889 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.786-1G>T single nucleotide variant Farber lipogranulomatosis [RCV003993529] Chr8:18059704 [GRCh38]
Chr8:17917213 [GRCh37]
Chr8:8p22
likely pathogenic
NM_177924.5(ASAH1):c.-5G>A single nucleotide variant ASAH1-related disorders [RCV004554442] Chr8:18084063 [GRCh38]
Chr8:17941572 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.126-1894T>C single nucleotide variant ASAH1-related disorders [RCV004548908] Chr8:18073284 [GRCh38]
Chr8:17930793 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.375_379del (p.Pro126fs) deletion Farber lipogranulomatosis [RCV004545947] Chr8:18067223..18067227 [GRCh38]
Chr8:17924732..17924736 [GRCh37]
Chr8:8p22
likely pathogenic
NM_004315.6(ASAH1):c.12C>T (p.Cys4=) single nucleotide variant ASAH1-related disorders [RCV004548873] Chr8:18084790 [GRCh38]
Chr8:17942299 [GRCh37]
Chr8:8p22
likely benign
NM_177924.5(ASAH1):c.704G>T (p.Gly235Val) single nucleotide variant Farber lipogranulomatosis [RCV003991146] Chr8:18061458 [GRCh38]
Chr8:17918967 [GRCh37]
Chr8:8p22
likely pathogenic
NC_000008.10:g.(?_17924709)_(17924827_?)del deletion not provided [RCV004583373] Chr8:17924709..17924827 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.127T>A (p.Tyr43Asn) single nucleotide variant Inborn genetic diseases [RCV004666971] Chr8:18071389 [GRCh38]
Chr8:17928898 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.949G>T (p.Val317Leu) single nucleotide variant Inborn genetic diseases [RCV004663489] Chr8:18059433 [GRCh38]
Chr8:17916942 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.353G>T (p.Gly118Val) single nucleotide variant Inborn genetic diseases [RCV004663495] Chr8:18067249 [GRCh38]
Chr8:17924758 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.647C>T (p.Pro216Leu) single nucleotide variant Inborn genetic diseases [RCV004666975] Chr8:18062280 [GRCh38]
Chr8:17919789 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.1079C>G (p.Thr360Arg) single nucleotide variant Inborn genetic diseases [RCV004663485] Chr8:18058854 [GRCh38]
Chr8:17916363 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17913500)_(17941617_?)dup duplication not specified [RCV004690938] Chr8:17913500..17941617 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17915043)_(20112692_?)del deletion not provided [RCV004583317] Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3
pathogenic
NC_000008.10:g.(?_17915043)_(17941567_?)del deletion not provided [RCV004583372] Chr8:17915043..17941567 [GRCh37]
Chr8:8p22
pathogenic
NC_000008.10:g.(?_17928789)_(17941567_?)dup duplication not provided [RCV004583376] Chr8:17928789..17941567 [GRCh37]
Chr8:8p22
uncertain significance
NC_000008.10:g.(?_17915043)_(17924827_?)del deletion not provided [RCV004583375] Chr8:17915043..17924827 [GRCh37]
Chr8:8p22
pathogenic
NM_177924.5(ASAH1):c.1099-1G>T single nucleotide variant not provided [RCV004793103] Chr8:18057624 [GRCh38]
Chr8:17915133 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.902C>T (p.Ser301Leu) single nucleotide variant not provided [RCV004793104] Chr8:18059587 [GRCh38]
Chr8:17917096 [GRCh37]
Chr8:8p22
uncertain significance
NM_177924.5(ASAH1):c.753C>G (p.Phe251Leu) single nucleotide variant not provided [RCV004793105] Chr8:18061409 [GRCh38]
Chr8:17918918 [GRCh37]
Chr8:8p22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2548
Count of miRNA genes:828
Interacting mature miRNAs:949
Transcripts:ENST00000262097, ENST00000314146, ENST00000381733, ENST00000417108, ENST00000517409, ENST00000518087, ENST00000518746, ENST00000519468, ENST00000519545, ENST00000520051, ENST00000520781, ENST00000521542, ENST00000523593, ENST00000523744
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
597256315GWAS1352389_Hatrial fibrillation QTL GWAS1352389 (human)1e-20atrial fibrillation81805646118056462Human
597227262GWAS1323336_Hatrial fibrillation QTL GWAS1323336 (human)2e-21atrial fibrillation81805646118056462Human
597143581GWAS1239655_Htriglyceride measurement QTL GWAS1239655 (human)5e-08triglyceride measurementblood triglyceride level (CMO:0000118)81805646118056462Human
597431286GWAS1527360_Hprotein measurement QTL GWAS1527360 (human)1e-61protein measurement81806847718068478Human
406896972GWAS545948_Hatrial fibrillation QTL GWAS545948 (human)6e-10atrial fibrillation81805646118056462Human
597031321GWAS1127395_Hatrial fibrillation QTL GWAS1127395 (human)4e-18atrial fibrillation81805646118056462Human
597031320GWAS1127394_Hatrial fibrillation QTL GWAS1127394 (human)2e-19atrial fibrillation81805646118056462Human
597422504GWAS1518578_Hatrial fibrillation QTL GWAS1518578 (human)2e-20atrial fibrillation81805646118056462Human
597270092GWAS1366166_Hmetabolite measurement QTL GWAS1366166 (human)4e-62metabolite measurement81806142518061426Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
597087274GWAS1183348_Htype 2 diabetes mellitus QTL GWAS1183348 (human)2e-09type 2 diabetes mellitus81807010018070101Human
597319109GWAS1415183_Htriglyceride measurement QTL GWAS1415183 (human)2e-09triglyceride measurementblood triglyceride level (CMO:0000118)81805646118056462Human

Markers in Region
RH94375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,921,267 - 17,921,400UniSTSGRCh37
Build 36817,965,547 - 17,965,680RGDNCBI36
Celera816,887,176 - 16,887,309RGD
Cytogenetic Map8p22UniSTS
HuRef816,465,543 - 16,465,676UniSTS
GeneMap99-GB4 RH Map867.23UniSTS
D8S1341E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,916,351 - 17,916,963UniSTSGRCh37
Build 36817,960,631 - 17,961,243RGD