PSAP (prosaposin) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PSAP (prosaposin) Homo sapiens
Analyze
Symbol: PSAP
Name: prosaposin
RGD ID: 736284
HGNC Page HGNC:9498
Description: Enables several functions, including ganglioside binding activity; protein homodimerization activity; and scaffold protein binding activity. Involved in ganglioside GM1 transport to membrane and lysosomal transport. Located in extracellular space; late endosome; and lysosome. Implicated in atypical Gaucher's disease due to saposin c deficiency; combined saposin deficiency; and late onset Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ00245; GLBA; MGC110993; PARK24; precursor of saposins; proactivator polypeptide; prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy); PSAPD; SAP1; SAP2; saposin-A; saposin-B; saposin-C; saposin-D; sphingolipid activator protein-1; sphingolipid activator protein-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: PSAP (Gene ID: 5660) and MTCH1 (Gene ID: 23787) share the PSAP symbol/alias in common. PSAP is a widely used alternative name for mitochondrial carrier 1 (MTCH1), which can be confused with the official symbol for PSAP (prosaposin, GeneID 5660). [01 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381071,816,298 - 71,851,251 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1071,816,298 - 71,851,251 (-)EnsemblGRCh38hg38GRCh38
GRCh371073,576,055 - 73,611,008 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,246,061 - 73,281,088 (-)NCBINCBI36Build 36hg18NCBI36
Build 341073,246,063 - 73,281,015NCBI
Celera1066,858,625 - 66,893,657 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1067,569,822 - 67,604,837 (-)NCBIHuRef
CHM1_11073,858,033 - 73,893,009 (-)NCBICHM1_1
T2T-CHM13v2.01072,687,031 - 72,721,975 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
aflatoxin B1  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium dichloride  (ISO)
calcidiol  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
diquat  (ISO)
diuron  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
glycidyl methacrylate  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
oxaliplatin  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
phenylpropanolamine  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
propiconazole  (ISO)
raloxifene  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
titanium dioxide  (EXP,ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abducens palsy  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal glycosphingolipid metabolism  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal social behavior  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Anemia  (IAGP)
Ankle clonus  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Blindness  (IAGP)
Bone pain  (IAGP)
Bowel incontinence  (IAGP)
Bulbar signs  (IAGP)
Cachexia  (IAGP)
Central apnea  (IAGP)
Cerebral dysmyelination  (IAGP)
Cherry red spot of the macula  (IAGP)
Childhood onset  (IAGP)
Cholecystitis  (IAGP)
Chorea  (IAGP)
Chronic fatigue  (IAGP)
Clonic seizure  (IAGP)
Clumsiness  (IAGP)
CNS demyelination  (IAGP)
Congenital onset  (IAGP)
Death in infancy  (IAGP)
Decerebrate rigidity  (IAGP)
Decreased head circumference  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Delayed brainstem auditory evoked response conduction time  (IAGP)
Delusion  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated brain choline level by MRS  (IAGP)
Elevated serum acid phosphatase  (IAGP)
EMG: chronic denervation signs  (IAGP)
Emotional lability  (IAGP)
Encephalopathy  (IAGP)
Erlenmeyer flask deformity of the femurs  (IAGP)
Failure to thrive  (IAGP)
Fasciculations  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frequent falls  (IAGP)
Functional motor deficit  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperesthesia  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperkinetic movements  (IAGP)
Hyperreflexia  (IAGP)
Hypersplenism  (IAGP)
Hypertonia  (IAGP)
Hypocholesterolemia  (IAGP)
Hypointensity of cerebral white matter on MRI  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inappropriate crying  (IAGP)
Increased cerebral lipofuscin  (IAGP)
Increased CSF protein concentration  (IAGP)
Increased head circumference  (IAGP)
Increased intracranial pressure  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile onset  (IAGP)
Intention tremor  (IAGP)
Irritability  (IAGP)
Laryngomalacia  (IAGP)
Leukodystrophy  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Lower limb spasticity  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Motor deterioration  (IAGP)
Muscle stiffness  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal onset  (IAGP)
Neoplasm of the gallbladder  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Opisthotonus  (IAGP)
Optic atrophy  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Osteopenia  (IAGP)
Parkinsonism with favorable response to dopaminergic medication  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Photophobia  (IAGP)
Polyneuropathy  (IAGP)
Poor head control  (IAGP)
Progressive gait ataxia  (IAGP)
Progressive neurologic deterioration  (IAGP)
Progressive peripheral neuropathy  (IAGP)
Progressive psychomotor deterioration  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Psychomotor deterioration  (IAGP)
Ptosis  (IAGP)
Punctate periventricular T2 hyperintense foci  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced brain glutamate level by MRS  (IAGP)
Reduced brain N-acetyl aspartate level by MRS  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Resting tremor  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Short attention span  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Slow pupillary light response  (IAGP)
Spastic diplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Status epilepticus  (IAGP)
Supranuclear gaze palsy  (IAGP)
Temperature instability  (IAGP)
Thrombocytopenia  (IAGP)
Tip-toe gait  (IAGP)
Tonic seizure  (IAGP)
Unexplained fevers  (IAGP)
Urinary incontinence  (IAGP)
Vegetative state  (IAGP)
Ventriculomegaly  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1371116   PMID:1454804   PMID:1612590   PMID:1958198   PMID:2013321   PMID:2019586   PMID:2025281   PMID:2060627   PMID:2066109   PMID:2209618   PMID:2302219   PMID:2320574  
PMID:2498298   PMID:2515150   PMID:2717620   PMID:2825202   PMID:2842863   PMID:2845979   PMID:2868718   PMID:3048308   PMID:3242555   PMID:3442600   PMID:3478817   PMID:6256275  
PMID:7613473   PMID:7730378   PMID:7866401   PMID:8125298   PMID:8323276   PMID:8370464   PMID:8554069   PMID:8641138   PMID:9751800   PMID:10406958   PMID:10510427   PMID:10562467  
PMID:10682309   PMID:11180632   PMID:11231313   PMID:11309366   PMID:11313879   PMID:11734895   PMID:11856752   PMID:12083803   PMID:12477932   PMID:12510003   PMID:12518053   PMID:12813057  
PMID:14630798   PMID:14674747   PMID:14716313   PMID:15047825   PMID:15231748   PMID:15305334   PMID:15489334   PMID:15548330   PMID:15606899   PMID:15897971   PMID:16080200   PMID:16169070  
PMID:16199891   PMID:16385451   PMID:16502470   PMID:16713569   PMID:16751776   PMID:16823039   PMID:17044040   PMID:17110338   PMID:17171640   PMID:17300216   PMID:17372201   PMID:17561962  
PMID:17712477   PMID:17893707   PMID:17961073   PMID:18029348   PMID:18462685   PMID:18481277   PMID:18761669   PMID:19056867   PMID:19224915   PMID:19267410   PMID:19471889   PMID:19581582  
PMID:20132547   PMID:20379614   PMID:20484222   PMID:20551380   PMID:20709014   PMID:21328455   PMID:21555518   PMID:21743296   PMID:21873635   PMID:21900206   PMID:21943334   PMID:22157746  
PMID:22261194   PMID:22268729   PMID:22431521   PMID:22738294   PMID:22863883   PMID:22939629   PMID:22949512   PMID:22990118   PMID:23022198   PMID:23376485   PMID:23414517   PMID:23417432  
PMID:23533145   PMID:23555801   PMID:23829686   PMID:24070323   PMID:24501781   PMID:24657443   PMID:24872419   PMID:24966325   PMID:25464930   PMID:25519158   PMID:25640309   PMID:25926625  
PMID:26045750   PMID:26341737   PMID:26370502   PMID:26462614   PMID:26831127   PMID:27068509   PMID:27356620   PMID:27559042   PMID:27576135   PMID:28541286   PMID:28835281   PMID:29128334  
PMID:29249381   PMID:30037697   PMID:30097533   PMID:30385233   PMID:30632081   PMID:30953361   PMID:31368365   PMID:31536960   PMID:31864418   PMID:31980649   PMID:32044242   PMID:32129710  
PMID:32201884   PMID:32296183   PMID:32344865   PMID:32409323   PMID:32513696   PMID:32687490   PMID:32814053   PMID:33197249   PMID:33219486   PMID:33853758   PMID:33903120   PMID:33961781  
PMID:34374777   PMID:34597346   PMID:34709727   PMID:34919127   PMID:35008187   PMID:35013218   PMID:35271311   PMID:35411049   PMID:35446349   PMID:35563538   PMID:35633503   PMID:35696571  
PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:36225252   PMID:36369321   PMID:36762613   PMID:37269057   PMID:38207022   PMID:38297188  


Genomics

Comparative Map Data
PSAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381071,816,298 - 71,851,251 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1071,816,298 - 71,851,251 (-)EnsemblGRCh38hg38GRCh38
GRCh371073,576,055 - 73,611,008 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,246,061 - 73,281,088 (-)NCBINCBI36Build 36hg18NCBI36
Build 341073,246,063 - 73,281,015NCBI
Celera1066,858,625 - 66,893,657 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1067,569,822 - 67,604,837 (-)NCBIHuRef
CHM1_11073,858,033 - 73,893,009 (-)NCBICHM1_1
T2T-CHM13v2.01072,687,031 - 72,721,975 (-)NCBIT2T-CHM13v2.0
Psap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391060,113,436 - 60,138,379 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1060,113,449 - 60,138,376 (+)EnsemblGRCm39 Ensembl
GRCm381060,277,628 - 60,302,600 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1060,277,627 - 60,302,597 (+)EnsemblGRCm38mm10GRCm38
MGSCv371059,740,376 - 59,765,348 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361059,673,095 - 59,697,957 (+)NCBIMGSCv36mm8
Celera1061,374,486 - 61,399,457 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1030.02NCBI
Psap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82028,756,951 - 28,783,422 (+)NCBIGRCr8
mRatBN7.22028,214,229 - 28,240,501 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2028,214,271 - 28,240,498 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2029,228,797 - 29,255,391 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02028,615,101 - 28,641,697 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02029,357,562 - 29,384,161 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02029,831,302 - 29,856,876 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2029,831,314 - 29,856,875 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02031,629,564 - 31,668,605 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42027,595,048 - 27,621,574 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12027,608,847 - 27,635,374 (+)NCBI
Celera2029,653,298 - 29,678,819 (+)NCBICelera
Cytogenetic Map20q11NCBI
Psap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543719,667,252 - 19,683,669 (+)NCBIChiLan1.0ChiLan1.0
PSAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2883,966,632 - 84,001,690 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11083,971,953 - 84,007,011 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01068,286,359 - 68,321,349 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11070,810,591 - 70,845,593 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1070,810,881 - 70,828,781 (-)Ensemblpanpan1.1panPan2
PSAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1422,571,095 - 22,603,880 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl422,572,153 - 22,603,848 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha422,708,767 - 22,741,495 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0422,847,636 - 22,880,854 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl422,847,638 - 22,880,795 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1422,753,725 - 22,786,399 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0422,952,336 - 22,985,298 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0423,306,841 - 23,339,591 (-)NCBIUU_Cfam_GSD_1.0
Psap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721358,483,085 - 58,516,521 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365216,975,770 - 7,009,136 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365216,975,844 - 7,009,460 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1474,734,189 - 74,887,763 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11474,734,185 - 74,820,645 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21480,625,273 - 80,660,726 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PSAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1959,440,327 - 59,474,773 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl959,440,311 - 59,474,986 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604820,084,030 - 20,118,523 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247545,726,681 - 5,753,575 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247545,725,697 - 5,753,575 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSAP
667 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) single nucleotide variant Inborn genetic diseases [RCV000624006]|Sphingolipid activator protein 1 deficiency [RCV000014289]|not provided [RCV000732106] Chr10:71828084 [GRCh38]
Chr10:73587841 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.777+1915C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000014290] Chr10:71823922 [GRCh38]
Chr10:73583679 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) single nucleotide variant Combined PSAP deficiency [RCV000588928]|Sphingolipid activator protein 1 deficiency [RCV000014291] Chr10:71825892 [GRCh38]
Chr10:73585649 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV000014292] Chr10:71819761 [GRCh38]
Chr10:73579518 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1A>T (p.Met1Leu) single nucleotide variant Combined PSAP deficiency [RCV000014293]|Gaucher disease due to saposin C deficiency [RCV000014294]|Sphingolipid activator protein 1 deficiency [RCV001857349] Chr10:71851221 [GRCh38]
Chr10:73610978 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.577-1G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000014295] Chr10:71828158 [GRCh38]
Chr10:73587915 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.643A>C (p.Asn215His) single nucleotide variant PSAP-related condition [RCV003398506]|Sphingolipid activator protein 1 deficiency [RCV000014296] Chr10:71828091 [GRCh38]
Chr10:73587848 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.794del (p.Cys265fs) deletion Combined PSAP deficiency [RCV000014297] Chr10:71821991 [GRCh38]
Chr10:73581748 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.207_209del (p.Val70del) deletion Krabbe disease due to saposin A deficiency [RCV000014298]|Sphingolipid activator protein 1 deficiency [RCV002513042] Chr10:71831886..71831888 [GRCh38]
Chr10:73591643..73591645 [GRCh37]
Chr10:10q22.1
pathogenic|uncertain significance
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV000014299] Chr10:71819762 [GRCh38]
Chr10:73579519 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV000014300] Chr10:71819527 [GRCh38]
Chr10:73579284 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV000014301]|Metachromatic leukodystrophy [RCV003317034] Chr10:71819860 [GRCh38]
Chr10:73579617 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.1006-2A>G single nucleotide variant Combined PSAP deficiency [RCV000014302]|Sphingolipid activator protein 1 deficiency [RCV001851850] Chr10:71819902 [GRCh38]
Chr10:73579659 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.577-2A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000014303] Chr10:71828159 [GRCh38]
Chr10:73587916 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) microsatellite Sphingolipid activator protein 1 deficiency [RCV000014304]|not provided [RCV001090814] Chr10:71821956..71821957 [GRCh38]
Chr10:73581713..73581714 [GRCh37]
Chr10:10q22.1
pathogenic
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
NM_002778.4(PSAP):c.1005+18C>T single nucleotide variant Combined PSAP deficiency [RCV001538043]|Krabbe disease due to saposin A deficiency [RCV001538044]|Sphingolipid activator protein 1 deficiency [RCV001511826]|not provided [RCV000676143]|not specified [RCV000080033] Chr10:71820222 [GRCh38]
Chr10:73579979 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1351-14A>G single nucleotide variant Atypical Gaucher Disease [RCV000291365]|CDH23-Related Disorders [RCV000406452]|Combined PSAP deficiency [RCV000343946]|Galactosylceramide beta-galactosidase deficiency [RCV000400368]|Gaucher disease due to saposin C deficiency [RCV001103803]|Krabbe disease due to saposin A deficiency [RCV001103805]|Metachromatic leukodystrophy [RCV000340431]|Sphingolipid activator protein 1 deficiency [RCV001103804]|not provided [RCV000676139]|not specified [RCV000080034] Chr10:71819125 [GRCh38]
Chr10:73578882 [GRCh37]
Chr10:10q22.1
benign|likely benign
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) single nucleotide variant Metachromatic leukodystrophy [RCV001272678]|Sphingolipid activator protein 1 deficiency [RCV001081218]|not provided [RCV000514444] Chr10:71828111 [GRCh38]
Chr10:73587868 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.-4C>T single nucleotide variant Combined PSAP deficiency [RCV000344174]|Gaucher disease due to saposin C deficiency [RCV000289299]|Krabbe disease due to saposin A deficiency [RCV000401140]|Metachromatic leukodystrophy [RCV001833274]|Sphingolipid activator protein 1 deficiency [RCV000379052]|not provided [RCV000676144]|not specified [RCV000248638] Chr10:71851225 [GRCh38]
Chr10:73610982 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1350+5G>A single nucleotide variant Atypical Gaucher Disease [RCV000313723]|Combined PSAP deficiency [RCV000370757]|Galactosylceramide beta-galactosidase deficiency [RCV000405067]|Gaucher disease due to saposin C deficiency [RCV001103806]|Krabbe disease due to saposin A deficiency [RCV001103807]|Metachromatic leukodystrophy [RCV000391848]|Nonsyndromic Hearing Loss, Recessive [RCV000304444]|Retinitis pigmentosa-deafness syndrome [RCV000361450]|Sphingolipid activator protein 1 deficiency [RCV001103808]|not provided [RCV000676140]|not specified [RCV000241705] Chr10:71819460 [GRCh38]
Chr10:73579217 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.1540-34C>T single nucleotide variant Combined PSAP deficiency [RCV001789280]|Krabbe disease due to saposin A deficiency [RCV001789281]|Sphingolipid activator protein 1 deficiency [RCV001789279]|not provided [RCV001689838]|not specified [RCV000241823] Chr10:71817510 [GRCh38]
Chr10:73577267 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.-10A>G single nucleotide variant Combined PSAP deficiency [RCV000309648]|Gaucher disease due to saposin C deficiency [RCV000408244]|Krabbe disease due to saposin A deficiency [RCV000350452]|Sphingolipid activator protein 1 deficiency [RCV000315569]|not provided [RCV000676145]|not specified [RCV000254128] Chr10:71851231 [GRCh38]
Chr10:73610988 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) single nucleotide variant Combined PSAP deficiency [RCV000282920]|Galactosylceramide beta-galactosidase deficiency [RCV001271962]|Gaucher disease due to saposin C deficiency [RCV000322786]|Krabbe disease due to saposin A deficiency [RCV000379713]|Sphingolipid activator protein 1 deficiency [RCV000884810]|not provided [RCV002262880]|not specified [RCV000250058] Chr10:71819082 [GRCh38]
Chr10:73578839 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.909+32G>T single nucleotide variant Combined PSAP deficiency [RCV001538045]|Krabbe disease due to saposin A deficiency [RCV001538046]|Sphingolipid activator protein 1 deficiency [RCV001538047]|not provided [RCV001610631]|not specified [RCV000247827] Chr10:71821844 [GRCh38]
Chr10:73581601 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1193-26G>A single nucleotide variant Combined PSAP deficiency [RCV001538040]|Krabbe disease due to saposin A deficiency [RCV001538041]|Sphingolipid activator protein 1 deficiency [RCV001538042]|not provided [RCV000676141]|not specified [RCV000250338] Chr10:71819648 [GRCh38]
Chr10:73579405 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1005+42C>G single nucleotide variant not specified [RCV000245594] Chr10:71820198 [GRCh38]
Chr10:73579955 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.-28A>C single nucleotide variant Combined PSAP deficiency [RCV000320357]|Gaucher disease due to saposin C deficiency [RCV000265215]|Krabbe disease due to saposin A deficiency [RCV000266404]|Sphingolipid activator protein 1 deficiency [RCV000360960]|not specified [RCV000245942] Chr10:71851249 [GRCh38]
Chr10:73611006 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) single nucleotide variant Combined PSAP deficiency [RCV000360171]|Gaucher disease due to saposin C deficiency [RCV000320675]|Krabbe disease due to saposin A deficiency [RCV000267782]|Sphingolipid activator protein 1 deficiency [RCV000377595] Chr10:71819554 [GRCh38]
Chr10:73579311 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_002778.4(PSAP):c.*122C>G single nucleotide variant Combined PSAP deficiency [RCV000267855]|Gaucher disease due to saposin C deficiency [RCV000360087]|Krabbe disease due to saposin A deficiency [RCV000390908]|Sphingolipid activator protein 1 deficiency [RCV000298428]|not provided [RCV001556327] Chr10:71817319 [GRCh38]
Chr10:73577076 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) single nucleotide variant Combined PSAP deficiency [RCV000335258]|Gaucher disease due to saposin C deficiency [RCV000301263]|Krabbe disease due to saposin A deficiency [RCV000390963]|Metachromatic leukodystrophy [RCV001828310]|Sphingolipid activator protein 1 deficiency [RCV000390949]|not provided [RCV001356155] Chr10:71819818 [GRCh38]
Chr10:73579575 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) single nucleotide variant Combined PSAP deficiency [RCV000301802]|Gaucher disease due to saposin C deficiency [RCV000340234]|Krabbe disease due to saposin A deficiency [RCV000407241]|Sphingolipid activator protein 1 deficiency [RCV000390115] Chr10:71820334 [GRCh38]
Chr10:73580091 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) single nucleotide variant Atypical Gaucher Disease [RCV000361976]|Combined PSAP deficiency [RCV000303307]|Galactosylceramide beta-galactosidase deficiency [RCV000304947]|Gaucher disease due to saposin C deficiency [RCV001103919]|Krabbe disease due to saposin A deficiency [RCV001103918]|Metachromatic leukodystrophy [RCV000264576]|Sphingolipid activator protein 1 deficiency [RCV000973449] Chr10:71819850 [GRCh38]
Chr10:73579607 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002778.4(PSAP):c.336C>T (p.Ser112=) single nucleotide variant Combined PSAP deficiency [RCV000322338]|Gaucher disease due to saposin C deficiency [RCV000357299]|Krabbe disease due to saposin A deficiency [RCV000358497]|Sphingolipid activator protein 1 deficiency [RCV000967680] Chr10:71831165 [GRCh38]
Chr10:73590922 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.570G>T (p.Gln190His) single nucleotide variant Combined PSAP deficiency [RCV000345152]|Galactosylceramide beta-galactosidase deficiency [RCV001271964]|Gaucher disease due to saposin C deficiency [RCV000285482]|Gaucher disease due to saposin C deficiency [RCV002504058]|Krabbe disease due to saposin A deficiency [RCV000379808]|Sphingolipid activator protein 1 deficiency [RCV000974717]|not provided [RCV001546038] Chr10:71828883 [GRCh38]
Chr10:73588640 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) single nucleotide variant Combined PSAP deficiency [RCV000304205]|Gaucher disease due to saposin C deficiency [RCV000393668]|Krabbe disease due to saposin A deficiency [RCV000345088]|Sphingolipid activator protein 1 deficiency [RCV000972285]|not provided [RCV001552293] Chr10:71834458 [GRCh38]
Chr10:73594215 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_002778.4(PSAP):c.*73C>T single nucleotide variant Combined PSAP deficiency [RCV000270083]|Gaucher disease due to saposin C deficiency [RCV000332122]|Krabbe disease due to saposin A deficiency [RCV000380700]|Sphingolipid activator protein 1 deficiency [RCV000388972] Chr10:71817368 [GRCh38]
Chr10:73577125 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.798G>A (p.Ala266=) single nucleotide variant Combined PSAP deficiency [RCV000310085]|Gaucher disease due to saposin C deficiency [RCV000313643]|Krabbe disease due to saposin A deficiency [RCV000270227]|Metachromatic leukodystrophy [RCV001833439]|Sphingolipid activator protein 1 deficiency [RCV000362418] Chr10:71821987 [GRCh38]
Chr10:73581744 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) single nucleotide variant Combined PSAP deficiency [RCV000336521]|Gaucher disease due to saposin C deficiency [RCV000340063]|Krabbe disease due to saposin A deficiency [RCV000287337]|Sphingolipid activator protein 1 deficiency [RCV000904670] Chr10:71818680 [GRCh38]
Chr10:73578437 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.3(PSAP):c.-56A>G single nucleotide variant Atypical Gaucher Disease [RCV000304421]|Combined PSAP deficiency [RCV000357989]|Galactosylceramide beta-galactosidase deficiency [RCV000361509]|Metachromatic leukodystrophy [RCV000392509] Chr10:71851277 [GRCh38]
Chr10:73611034 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.*113C>T single nucleotide variant Combined PSAP deficiency [RCV000301719]|Gaucher disease due to saposin C deficiency [RCV000328683]|Krabbe disease due to saposin A deficiency [RCV000271245]|Sphingolipid activator protein 1 deficiency [RCV000358827] Chr10:71817328 [GRCh38]
Chr10:73577085 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) single nucleotide variant Atypical Gaucher Disease [RCV000380910]|Combined PSAP deficiency [RCV000288610]|Galactosylceramide beta-galactosidase deficiency [RCV000328597]|Metachromatic leukodystrophy [RCV000271167] Chr10:71819557 [GRCh38]
Chr10:73579314 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) single nucleotide variant Combined PSAP deficiency [RCV000349589]|Gaucher disease due to saposin C deficiency [RCV000389048]|Inborn genetic diseases [RCV002520627]|Krabbe disease due to saposin A deficiency [RCV000350842]|Metachromatic leukodystrophy [RCV001833438]|Sphingolipid activator protein 1 deficiency [RCV001044241]|not provided [RCV002262951] Chr10:71819734 [GRCh38]
Chr10:73579491 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) single nucleotide variant Atypical Gaucher Disease [RCV000272506]|Combined PSAP deficiency [RCV000327586]|Galactosylceramide beta-galactosidase deficiency [RCV000274090]|Metachromatic leukodystrophy [RCV000386828]|Sphingolipid activator protein 1 deficiency [RCV002522167] Chr10:71834379 [GRCh38]
Chr10:73594136 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.*574G>C single nucleotide variant Combined PSAP deficiency [RCV000344036]|Gaucher disease due to saposin C deficiency [RCV000295048]|Krabbe disease due to saposin A deficiency [RCV000289093]|Sphingolipid activator protein 1 deficiency [RCV000389343] Chr10:71816867 [GRCh38]
Chr10:73576624 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.3(PSAP):c.-33T>C single nucleotide variant Atypical Gaucher Disease [RCV000398978]|Combined PSAP deficiency [RCV000386758]|Galactosylceramide beta-galactosidase deficiency [RCV000351340]|Metachromatic leukodystrophy [RCV000294131] Chr10:71851254 [GRCh38]
Chr10:73611011 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) single nucleotide variant Combined PSAP deficiency [RCV000325945]|Gaucher disease due to saposin C deficiency [RCV000382922]|Krabbe disease due to saposin A deficiency [RCV000273320]|Sphingolipid activator protein 1 deficiency [RCV000365539] Chr10:71819894 [GRCh38]
Chr10:73579651 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_002778.4(PSAP):c.174+9C>T single nucleotide variant Combined PSAP deficiency [RCV000361163]|Gaucher disease due to saposin C deficiency [RCV000307686]|Krabbe disease due to saposin A deficiency [RCV000362343]|Sphingolipid activator protein 1 deficiency [RCV000895393] Chr10:71834363 [GRCh38]
Chr10:73594120 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) single nucleotide variant Combined PSAP deficiency [RCV000384126]|Gaucher disease due to saposin C deficiency [RCV000349338]|Krabbe disease due to saposin A deficiency [RCV000329512]|Sphingolipid activator protein 1 deficiency [RCV000294452] Chr10:71831868 [GRCh38]
Chr10:73591625 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.557G>A (p.Arg186His) single nucleotide variant Combined PSAP deficiency [RCV000291043]|Gaucher disease due to saposin C deficiency [RCV000401145]|Krabbe disease due to saposin A deficiency [RCV000391944]|Sphingolipid activator protein 1 deficiency [RCV000345936] Chr10:71828896 [GRCh38]
Chr10:73588653 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.-29C>T single nucleotide variant Combined PSAP deficiency [RCV000327522]|Gaucher disease due to saposin C deficiency [RCV000291198]|Krabbe disease due to saposin A deficiency [RCV000380853]|Sphingolipid activator protein 1 deficiency [RCV000326253] Chr10:71851250 [GRCh38]
Chr10:73611007 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) single nucleotide variant Combined PSAP deficiency [RCV000356874]|Gaucher disease due to saposin C deficiency [RCV000299749]|Krabbe disease due to saposin A deficiency [RCV000259660]|Metachromatic leukodystrophy [RCV001272671]|Sphingolipid activator protein 1 deficiency [RCV000932186]|not specified [RCV003330636] Chr10:71819537 [GRCh38]
Chr10:73579294 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.41-13G>C single nucleotide variant Combined PSAP deficiency [RCV000371674]|Gaucher disease due to saposin C deficiency [RCV000316930]|Krabbe disease due to saposin A deficiency [RCV000275892]|Sphingolipid activator protein 1 deficiency [RCV000263028] Chr10:71834518 [GRCh38]
Chr10:73594275 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.78C>T (p.Thr26=) single nucleotide variant Combined PSAP deficiency [RCV000370278]|Gaucher disease due to saposin C deficiency [RCV000310907]|Krabbe disease due to saposin A deficiency [RCV000364543]|Metachromatic leukodystrophy [RCV001833440]|Sphingolipid activator protein 1 deficiency [RCV000959111] Chr10:71834468 [GRCh38]
Chr10:73594225 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.714C>G (p.Ala238=) single nucleotide variant Combined PSAP deficiency [RCV000370671]|Gaucher disease due to saposin C deficiency [RCV000354645]|Krabbe disease due to saposin A deficiency [RCV000332576]|Sphingolipid activator protein 1 deficiency [RCV000902915]|not provided [RCV003417974] Chr10:71828020 [GRCh38]
Chr10:73587777 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.577-10T>C single nucleotide variant Combined PSAP deficiency [RCV000259735]|Gaucher disease due to saposin C deficiency [RCV000284433]|Krabbe disease due to saposin A deficiency [RCV000319640]|Sphingolipid activator protein 1 deficiency [RCV000898101] Chr10:71828167 [GRCh38]
Chr10:73587924 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) single nucleotide variant Combined PSAP deficiency [RCV000333973]|Gaucher disease due to saposin C deficiency [RCV000386288]|Krabbe disease due to saposin A deficiency [RCV000276629]|Sphingolipid activator protein 1 deficiency [RCV000294309] Chr10:71820245 [GRCh38]
Chr10:73580002 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.-22G>C single nucleotide variant Combined PSAP deficiency [RCV000408218]|Gaucher disease due to saposin C deficiency [RCV000357433]|Krabbe disease due to saposin A deficiency [RCV000369974]|Sphingolipid activator protein 1 deficiency [RCV000297923] Chr10:71851243 [GRCh38]
Chr10:73611000 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) single nucleotide variant Combined PSAP deficiency [RCV000330576]|Galactosylceramide beta-galactosidase deficiency [RCV001271961]|Gaucher disease due to saposin C deficiency [RCV000308371]|Krabbe disease due to saposin A deficiency [RCV000277898]|Sphingolipid activator protein 1 deficiency [RCV000974716]|not provided [RCV001689997] Chr10:71818704 [GRCh38]
Chr10:73578461 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.3(PSAP):c.-65C>T single nucleotide variant Atypical Gaucher Disease [RCV000333211]|Combined PSAP deficiency [RCV000294630]|Galactosylceramide beta-galactosidase deficiency [RCV000329668]|Metachromatic leukodystrophy [RCV000386588]|not provided [RCV002285306] Chr10:71851286 [GRCh38]
Chr10:73611043 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.*9A>G single nucleotide variant Combined PSAP deficiency [RCV000294266]|Gaucher disease due to saposin C deficiency [RCV000318911]|Krabbe disease due to saposin A deficiency [RCV000279004]|Sphingolipid activator protein 1 deficiency [RCV000375756] Chr10:71817432 [GRCh38]
Chr10:73577189 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_002778.4(PSAP):c.204C>T (p.Asp68=) single nucleotide variant Combined PSAP deficiency [RCV000336409]|Gaucher disease due to saposin C deficiency [RCV000295411]|Krabbe disease due to saposin A deficiency [RCV000390895]|Metachromatic leukodystrophy [RCV001271965]|Sphingolipid activator protein 1 deficiency [RCV000960618]|not provided [RCV002056130] Chr10:71831891 [GRCh38]
Chr10:73591648 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) single nucleotide variant Combined PSAP deficiency [RCV000334914]|Gaucher disease due to saposin C deficiency [RCV000388278]|Krabbe disease due to saposin A deficiency [RCV000279820]|Sphingolipid activator protein 1 deficiency [RCV000333853] Chr10:71834434 [GRCh38]
Chr10:73594191 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.*775G>A single nucleotide variant Combined PSAP deficiency [RCV000377635]|Gaucher disease due to saposin C deficiency [RCV000383317]|Krabbe disease due to saposin A deficiency [RCV000264363]|Sphingolipid activator protein 1 deficiency [RCV000328693]|not provided [RCV001712009] Chr10:71816666 [GRCh38]
Chr10:73576423 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) single nucleotide variant Combined PSAP deficiency [RCV000390195]|Gaucher disease due to saposin C deficiency [RCV000339496]|Krabbe disease due to saposin A deficiency [RCV000374243]|Sphingolipid activator protein 1 deficiency [RCV000284356] Chr10:71834452 [GRCh38]
Chr10:73594209 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.*276G>A single nucleotide variant Combined PSAP deficiency [RCV000338205]|Gaucher disease due to saposin C deficiency [RCV000392420]|Krabbe disease due to saposin A deficiency [RCV000299671]|Sphingolipid activator protein 1 deficiency [RCV000349996] Chr10:71817165 [GRCh38]
Chr10:73576922 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.189C>T (p.Cys63=) single nucleotide variant Combined PSAP deficiency [RCV000355292]|Gaucher disease due to saposin C deficiency [RCV000300495]|Krabbe disease due to saposin A deficiency [RCV000301590]|Sphingolipid activator protein 1 deficiency [RCV000971779]|not provided [RCV001672431] Chr10:71831906 [GRCh38]
Chr10:73591663 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002778.4(PSAP):c.1432-4A>G single nucleotide variant Combined PSAP deficiency [RCV000368118]|Gaucher disease due to saposin C deficiency [RCV000371699]|Krabbe disease due to saposin A deficiency [RCV000319311]|Sphingolipid activator protein 1 deficiency [RCV000261764] Chr10:71818728 [GRCh38]
Chr10:73578485 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) single nucleotide variant Combined PSAP deficiency [RCV000366675]|Gaucher disease due to saposin C deficiency [RCV000407182]|Inborn genetic diseases [RCV002520626]|Krabbe disease due to saposin A deficiency [RCV000402799]|Sphingolipid activator protein 1 deficiency [RCV000309664] Chr10:71818700 [GRCh38]
Chr10:73578457 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.3(PSAP):c.-62A>G single nucleotide variant Atypical Gaucher Disease [RCV000364883]|Combined PSAP deficiency [RCV000326587]|Galactosylceramide beta-galactosidase deficiency [RCV000272681]|Metachromatic leukodystrophy [RCV000269230] Chr10:71851283 [GRCh38]
Chr10:73611040 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.40+12G>A single nucleotide variant Combined PSAP deficiency [RCV000318811]|Gaucher disease due to saposin C deficiency [RCV000378161]|Krabbe disease due to saposin A deficiency [RCV000283508]|Sphingolipid activator protein 1 deficiency [RCV000343158] Chr10:71851170 [GRCh38]
Chr10:73610927 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.582T>C (p.Asn194=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001086179]|not provided [RCV000392777] Chr10:71828152 [GRCh38]
Chr10:73587909 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.*859C>T single nucleotide variant Combined PSAP deficiency [RCV000298014]|Gaucher disease due to saposin C deficiency [RCV000267687]|Krabbe disease due to saposin A deficiency [RCV000322739]|Sphingolipid activator protein 1 deficiency [RCV000352959] Chr10:71816582 [GRCh38]
Chr10:73576339 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.250-12G>A single nucleotide variant Combined PSAP deficiency [RCV000382490]|Gaucher disease due to saposin C deficiency [RCV000288083]|Krabbe disease due to saposin A deficiency [RCV000268193]|Sphingolipid activator protein 1 deficiency [RCV000323233] Chr10:71831263 [GRCh38]
Chr10:73591020 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) single nucleotide variant Combined PSAP deficiency [RCV000371610]|Gaucher disease due to saposin C deficiency [RCV000279263]|Krabbe disease due to saposin A deficiency [RCV000341259]|Sphingolipid activator protein 1 deficiency [RCV000337925] Chr10:71820322 [GRCh38]
Chr10:73580079 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1268del (p.Leu423fs) deletion Sphingolipid activator protein 1 deficiency [RCV000755007] Chr10:71819547 [GRCh38]
Chr10:73579304 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.414C>T (p.Cys138=) single nucleotide variant Metachromatic leukodystrophy [RCV001277788]|Sphingolipid activator protein 1 deficiency [RCV001494927] Chr10:71829039 [GRCh38]
Chr10:73588796 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV002493467]|Inborn genetic diseases [RCV002537774]|Metachromatic leukodystrophy [RCV001277789]|Sphingolipid activator protein 1 deficiency [RCV002537773] Chr10:71829074 [GRCh38]
Chr10:73588831 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.41-17_41-9dup duplication Metachromatic leukodystrophy [RCV001277795]|Sphingolipid activator protein 1 deficiency [RCV001483515] Chr10:71834513..71834514 [GRCh38]
Chr10:73594270..73594271 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) single nucleotide variant Metachromatic leukodystrophy [RCV001277797]|Sphingolipid activator protein 1 deficiency [RCV002537776] Chr10:71851214 [GRCh38]
Chr10:73610971 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.*439C>T single nucleotide variant Atypical Gaucher Disease [RCV000312734]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106488]|Combined PSAP deficiency [RCV000314348]|Galactosylceramide beta-galactosidase deficiency [RCV000403296]|Metachromatic leukodystrophy [RCV000352338]|Usher syndrome type 1D [RCV001106487] Chr10:71815717 [GRCh38]
Chr10:73575474 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.1316del (p.Gly439fs) deletion not provided [RCV000520486] Chr10:71819499 [GRCh38]
Chr10:73579256 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.*935A>G single nucleotide variant Combined PSAP deficiency [RCV000346885]|Gaucher disease due to saposin C deficiency [RCV000407853]|Krabbe disease due to saposin A deficiency [RCV000307133]|Sphingolipid activator protein 1 deficiency [RCV000352616] Chr10:71816506 [GRCh38]
Chr10:73576263 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) single nucleotide variant Atypical Gaucher Disease [RCV000301703]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108528]|CDH23-Related Disorders [RCV000381558]|Combined PSAP deficiency [RCV000308301]|Galactosylceramide beta-galactosidase deficiency [RCV000395744]|Metachromatic leukodystrophy [RCV000360078]|Nonsyndromic Hearing Loss, Recessive [RCV000290748]|Retinitis pigmentosa-deafness syndrome [RCV000345678]|Usher syndrome type 1 [RCV001826835]|Usher syndrome type 1D [RCV001108527]|not provided [RCV000902585]|not specified [RCV000155061] Chr10:71815239 [GRCh38]
Chr10:73574996 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) single nucleotide variant Atypical Gaucher Disease [RCV000298108]|Combined PSAP deficiency [RCV000353393]|Galactosylceramide beta-galactosidase deficiency [RCV000313766]|Metachromatic leukodystrophy [RCV000277348]|Nonsyndromic Hearing Loss, Recessive [RCV000371681]|Retinitis pigmentosa-deafness syndrome [RCV000317072]|Usher syndrome type 1 [RCV001276933]|Usher syndrome type 1D [RCV001526764]|not provided [RCV001241617]|not specified [RCV000155059] Chr10:71812886 [GRCh38]
Chr10:73572643 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.9510+13C>T single nucleotide variant Atypical Gaucher Disease [RCV000380976]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106215]|Combined PSAP deficiency [RCV000346745]|Galactosylceramide beta-galactosidase deficiency [RCV000286477]|Metachromatic leukodystrophy [RCV000341426]|Usher syndrome type 1 [RCV001276930]|Usher syndrome type 1D [RCV001106216]|not provided [RCV001520244]|not specified [RCV000155615] Chr10:71812622 [GRCh38]
Chr10:73572379 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_001042465.2(PSAP):c.-118G>A single nucleotide variant Atypical Gaucher Disease [RCV000259641]|Combined PSAP deficiency [RCV000395916]|Galactosylceramide beta-galactosidase deficiency [RCV000355868]|Metachromatic leukodystrophy [RCV000303370] Chr10:71851339 [GRCh38]
Chr10:73611096 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) single nucleotide variant Atypical Gaucher Disease [RCV000319045]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106306]|CDH23-Related Disorders [RCV000324392]|Combined PSAP deficiency [RCV000266027]|Galactosylceramide beta-galactosidase deficiency [RCV000375963]|Metachromatic leukodystrophy [RCV000279075]|Nonsyndromic Hearing Loss, Recessive [RCV000260328]|Retinitis pigmentosa-deafness syndrome [RCV000378954]|Usher syndrome type 1 [RCV001272666]|Usher syndrome type 1D [RCV001106305]|not provided [RCV000898457]|not specified [RCV000603434] Chr10:71815155 [GRCh38]
Chr10:73574912 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.*80G>A single nucleotide variant Atypical Gaucher Disease [RCV000260479]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105270]|Combined PSAP deficiency [RCV000332344]|Galactosylceramide beta-galactosidase deficiency [RCV000389276]|Metachromatic leukodystrophy [RCV000292479]|Usher syndrome type 1D [RCV001105271] Chr10:71815358 [GRCh38]
Chr10:73575115 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.3(PSAP):c.-99T>G single nucleotide variant Atypical Gaucher Disease [RCV000336843]|Combined PSAP deficiency [RCV000371619]|Galactosylceramide beta-galactosidase deficiency [RCV000375131]|Metachromatic leukodystrophy [RCV000279433] Chr10:71851320 [GRCh38]
Chr10:73611077 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.*68G>C single nucleotide variant Atypical Gaucher Disease [RCV000358885]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105267]|CDH23-Related Disorders [RCV000353011]|Combined PSAP deficiency [RCV000319096]|Galactosylceramide beta-galactosidase deficiency [RCV000261585]|Metachromatic leukodystrophy [RCV000353004]|Nonsyndromic Hearing Loss, Recessive [RCV000298093]|Retinitis pigmentosa-deafness syndrome [RCV000404597]|Usher syndrome type 1D [RCV001105266] Chr10:71815346 [GRCh38]
Chr10:73575103 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.*510G>A single nucleotide variant Atypical Gaucher Disease [RCV000320461]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108679]|Combined PSAP deficiency [RCV000377475]|Galactosylceramide beta-galactosidase deficiency [RCV000261813]|Metachromatic leukodystrophy [RCV000267207]|Nonsyndromic Hearing Loss, Recessive [RCV000274238]|Retinitis pigmentosa-deafness syndrome [RCV000320011]|Usher syndrome type 1D [RCV001108678]|not provided [RCV001683212] Chr10:71815788 [GRCh38]
Chr10:73575545 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.*891G>A single nucleotide variant Combined PSAP deficiency [RCV000356626]|Gaucher disease due to saposin C deficiency [RCV000261832]|Krabbe disease due to saposin A deficiency [RCV000405012]|Nonsyndromic Hearing Loss, Recessive [RCV000291291]|Retinitis pigmentosa-deafness syndrome [RCV000344085]|Sphingolipid activator protein 1 deficiency [RCV000311054]|not provided [RCV001689996] Chr10:71816550 [GRCh38]
Chr10:73576307 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) single nucleotide variant Atypical Gaucher Disease [RCV000298268]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105177]|CDH23-Related Disorders [RCV000313005]|Combined PSAP deficiency [RCV000404504]|Galactosylceramide beta-galactosidase deficiency [RCV000406507]|Inborn genetic diseases [RCV003165815]|Metachromatic leukodystrophy [RCV000350786]|Nonsyndromic Hearing Loss, Recessive [RCV000367632]|Retinitis pigmentosa-deafness syndrome [RCV000263857]|Usher syndrome type 1 [RCV001833437]|Usher syndrome type 1D [RCV001105176]|not provided [RCV002051835]|not specified [RCV000612885] Chr10:71815073 [GRCh38]
Chr10:73574830 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.380G>A (p.Arg127His) single nucleotide variant Combined PSAP deficiency [RCV000298228]|Gaucher disease due to saposin C deficiency [RCV000408327]|Krabbe disease due to saposin A deficiency [RCV000370513]|Sphingolipid activator protein 1 deficiency [RCV000311141] Chr10:71829073 [GRCh38]
Chr10:73588830 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.*361C>A single nucleotide variant Atypical Gaucher Disease [RCV000271219]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103426]|Combined PSAP deficiency [RCV000269900]|Galactosylceramide beta-galactosidase deficiency [RCV000328475]|Metachromatic leukodystrophy [RCV000380695]|Nonsyndromic Hearing Loss, Recessive [RCV000402848]|Retinitis pigmentosa-deafness syndrome [RCV000365801]|Usher syndrome type 1D [RCV001103427]|not provided [RCV001848072] Chr10:71815639 [GRCh38]
Chr10:73575396 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.*478G>C single nucleotide variant Atypical Gaucher Disease [RCV000365100]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106490]|Combined PSAP deficiency [RCV000307212]|Galactosylceramide beta-galactosidase deficiency [RCV000273164]|Metachromatic leukodystrophy [RCV000364174]|Usher syndrome type 1D [RCV001106489] Chr10:71815756 [GRCh38]
Chr10:73575513 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.9739-12G>A single nucleotide variant Atypical Gaucher Disease [RCV000368470]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103258]|CDH23-Related Disorders [RCV000407660]|Combined PSAP deficiency [RCV000328937]|Galactosylceramide beta-galactosidase deficiency [RCV000273893]|Metachromatic leukodystrophy [RCV000383482]|Nonsyndromic Hearing Loss, Recessive [RCV000347081]|Retinitis pigmentosa-deafness syndrome [RCV000282753]|Usher syndrome type 1D [RCV001103257]|not provided [RCV001505966] Chr10:71814940 [GRCh38]
Chr10:73574697 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.*349A>G single nucleotide variant Atypical Gaucher Disease [RCV000311190]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108610]|Combined PSAP deficiency [RCV000277087]|Galactosylceramide beta-galactosidase deficiency [RCV000369416]|Metachromatic leukodystrophy [RCV000368083]|Nonsyndromic Hearing Loss, Recessive [RCV000407454]|Retinitis pigmentosa-deafness syndrome [RCV000301787]|Usher syndrome type 1D [RCV001108611]|not provided [RCV001530530] Chr10:71815627 [GRCh38]
Chr10:73575384 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.*430A>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001103431]|CDH23-Related Disorders [RCV000277041]|Combined PSAP deficiency [RCV000283671]|Gaucher disease due to saposin C deficiency [RCV000380533]|Krabbe disease due to saposin A deficiency [RCV000322706]|Nonsyndromic Hearing Loss, Recessive [RCV000362197]|Retinitis pigmentosa-deafness syndrome [RCV000307445]|Sphingolipid activator protein 1 deficiency [RCV000340975]|Usher syndrome type 1D [RCV001103430] Chr10:71815708 [GRCh38]
Chr10:73575465 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.*515C>A single nucleotide variant Atypical Gaucher Disease [RCV000279258]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108680]|Combined PSAP deficiency [RCV000350653]|Galactosylceramide beta-galactosidase deficiency [RCV000371463]|Metachromatic leukodystrophy [RCV000319279]|Nonsyndromic Hearing Loss, Recessive [RCV000280245]|Retinitis pigmentosa-deafness syndrome [RCV000374819]|Usher syndrome type 1D [RCV001108681] Chr10:71815793 [GRCh38]
Chr10:73575550 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.9319+11G>A single nucleotide variant Atypical Gaucher Disease [RCV000301429]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105082]|Combined PSAP deficiency [RCV000265040]|Galactosylceramide beta-galactosidase deficiency [RCV000359537]|Metachromatic leukodystrophy [RCV000305041]|Nonsyndromic Hearing Loss, Recessive [RCV000405954]|Retinitis pigmentosa-deafness syndrome [RCV000312528]|Usher syndrome type 1D [RCV001105081]|not provided [RCV001523600]|not specified [RCV000039307] Chr10:71811764 [GRCh38]
Chr10:73571521 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) single nucleotide variant Atypical Gaucher Disease [RCV000389375]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105085]|Combined PSAP deficiency [RCV000261040]|Galactosylceramide beta-galactosidase deficiency [RCV000316294]|Metachromatic leukodystrophy [RCV000356182]|Nonsyndromic Hearing Loss, Recessive [RCV000271717]|Retinitis pigmentosa-deafness syndrome [RCV000363966]|Usher syndrome type 1 [RCV001276927]|Usher syndrome type 1D [RCV001105086]|not provided [RCV000086979]|not specified [RCV000039308] Chr10:71812008 [GRCh38]
Chr10:73571765 [GRCh37]
Chr10:10q22.1
benign|likely benign|not provided
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) single nucleotide variant Atypical Gaucher Disease [RCV000331531]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106213]|Combined PSAP deficiency [RCV000386012]|Galactosylceramide beta-galactosidase deficiency [RCV000291787]|Metachromatic leukodystrophy [RCV000276340]|Usher syndrome type 1 [RCV001276928]|Usher syndrome type 1D [RCV001106214]|not provided [RCV000888298]|not specified [RCV000039310] Chr10:71812600 [GRCh38]
Chr10:73572357 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) single nucleotide variant Atypical Gaucher Disease [RCV000270308]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103259]|Combined PSAP deficiency [RCV000285800]|Galactosylceramide beta-galactosidase deficiency [RCV000325564]|Metachromatic leukodystrophy [RCV000380222]|Usher syndrome type 1 [RCV001276934]|Usher syndrome type 1D [RCV001103260]|not provided [RCV000889474]|not specified [RCV000039316] Chr10:71814971 [GRCh38]
Chr10:73574728 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) single nucleotide variant Atypical Gaucher Disease [RCV000394283]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105179]|Combined PSAP deficiency [RCV000309875]|Galactosylceramide beta-galactosidase deficiency [RCV000368018]|Metachromatic leukodystrophy [RCV000311112]|Nonsyndromic Hearing Loss, Recessive [RCV000355079]|Retinitis pigmentosa-deafness syndrome [RCV000300347]|Usher syndrome type 1 [RCV001271954]|Usher syndrome type 1D [RCV001105178]|not provided [RCV001510618]|not specified [RCV000039317] Chr10:71815086 [GRCh38]
Chr10:73574843 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) single nucleotide variant Atypical Gaucher Disease [RCV000358601]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106300]|Combined PSAP deficiency [RCV000267313]|Galactosylceramide beta-galactosidase deficiency [RCV000362216]|Metachromatic leukodystrophy [RCV000324862]|Usher syndrome type 1 [RCV001271956]|Usher syndrome type 1D [RCV001106299]|not provided [RCV000886795]|not specified [RCV000039318] Chr10:71815116 [GRCh38]
Chr10:73574873 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) single nucleotide variant Atypical Gaucher Disease [RCV000317831]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108523]|Combined PSAP deficiency [RCV000388265]|Galactosylceramide beta-galactosidase deficiency [RCV000296257]|Metachromatic leukodystrophy [RCV000348937]|Usher syndrome type 1 [RCV001271957]|Usher syndrome type 1D [RCV001108524]|not provided [RCV000965145]|not specified [RCV000039319] Chr10:71815191 [GRCh38]
Chr10:73574948 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.*141G>A single nucleotide variant Atypical Gaucher Disease [RCV000339517]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106402]|CDH23-Related Disorders [RCV000280807]|Combined PSAP deficiency [RCV000403587]|Galactosylceramide beta-galactosidase deficiency [RCV000286901]|Metachromatic leukodystrophy [RCV000407781]|Nonsyndromic Hearing Loss, Recessive [RCV000335794]|Retinitis pigmentosa-deafness syndrome [RCV000407452]|Usher syndrome type 1D [RCV001106401] Chr10:71815419 [GRCh38]
Chr10:73575176 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) single nucleotide variant Atypical Gaucher Disease [RCV000337406]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103262]|CDH23-Related Disorders [RCV000403860]|Combined PSAP deficiency [RCV000282351]|Galactosylceramide beta-galactosidase deficiency [RCV000340738]|Metachromatic leukodystrophy [RCV000376807]|Nonsyndromic Hearing Loss, Recessive [RCV000307536]|Retinitis pigmentosa-deafness syndrome [RCV000352717]|Usher syndrome type 1D [RCV001103261]|not provided [RCV002520625] Chr10:71815012 [GRCh38]
Chr10:73574769 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.*434G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105353]|Combined PSAP deficiency [RCV000374590]|Gaucher disease due to saposin C deficiency [RCV000404105]|Krabbe disease due to saposin A deficiency [RCV000335403]|Nonsyndromic Hearing Loss, Recessive [RCV000332915]|Retinitis pigmentosa-deafness syndrome [RCV000368897]|Sphingolipid activator protein 1 deficiency [RCV000282687]|Usher syndrome type 1D [RCV001105354] Chr10:71815712 [GRCh38]
Chr10:73575469 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.*588del deletion Atypical Gaucher Disease [RCV000407274]|CDH23-Related Disorders [RCV000285698]|Combined PSAP deficiency [RCV000292556]|Galactosylceramide beta-galactosidase deficiency [RCV000388913]|Metachromatic leukodystrophy [RCV000349779]|Nonsyndromic Hearing Loss, Recessive [RCV000316739]|Retinitis pigmentosa-deafness syndrome [RCV000380623] Chr10:71815864 [GRCh38]
Chr10:73575621 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.*204A>G single nucleotide variant Atypical Gaucher Disease [RCV000390678]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108606]|Combined PSAP deficiency [RCV000299894]|Galactosylceramide beta-galactosidase deficiency [RCV000338493]|Metachromatic leukodystrophy [RCV000298356]|Nonsyndromic Hearing Loss, Recessive [RCV000341473]|Retinitis pigmentosa-deafness syndrome [RCV000286621]|Usher syndrome type 1D [RCV001108607]|not provided [RCV001672430] Chr10:71815482 [GRCh38]
Chr10:73575239 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.9510+19_9510+25del deletion Atypical Gaucher Disease [RCV000396275]|Combined PSAP deficiency [RCV000337881]|Galactosylceramide beta-galactosidase deficiency [RCV000402429]|Metachromatic leukodystrophy [RCV000301614]|Usher syndrome type 1 [RCV001276931]|Usher syndrome type 1D [RCV000119817]|not provided [RCV001523525]|not specified [RCV000604131] Chr10:71812625..71812631 [GRCh38]
Chr10:73572382..73572388 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) single nucleotide variant Atypical Gaucher Disease [RCV000290496]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001108526]|Combined PSAP deficiency [RCV000347839]|Galactosylceramide beta-galactosidase deficiency [RCV000402629]|Metachromatic leukodystrophy [RCV000405901]|Usher syndrome type 1 [RCV001271959]|Usher syndrome type 1D [RCV001108525]|not provided [RCV001053104]|not specified [RCV000613082] Chr10:71815196 [GRCh38]
Chr10:73574953 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.*104G>C single nucleotide variant Atypical Gaucher Disease [RCV000344023]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001106399]|Combined PSAP deficiency [RCV000331077]|Galactosylceramide beta-galactosidase deficiency [RCV000383526]|Metachromatic leukodystrophy [RCV000291512]|Nonsyndromic Hearing Loss, Recessive [RCV000325433]|Retinitis pigmentosa-deafness syndrome [RCV000388243]|Usher syndrome type 1D [RCV001106400] Chr10:71815382 [GRCh38]
Chr10:73575139 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.3(PSAP):c.-50G>T single nucleotide variant Atypical Gaucher Disease [RCV000301040]|Combined PSAP deficiency [RCV000336145]|Galactosylceramide beta-galactosidase deficiency [RCV000399236]|Metachromatic leukodystrophy [RCV000278698] Chr10:71851271 [GRCh38]
Chr10:73611028 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) single nucleotide variant Atypical Gaucher Disease [RCV000308492]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001103168]|CDH23-Related Disorders [RCV000407582]|Combined PSAP deficiency [RCV000363140]|Galactosylceramide beta-galactosidase deficiency [RCV000396018]|Metachromatic leukodystrophy [RCV000403032]|Nonsyndromic Hearing Loss, Recessive [RCV000299495]|Retinitis pigmentosa-deafness syndrome [RCV000338320]|Usher syndrome type 1D [RCV001103169]|not provided [RCV002520624] Chr10:71811725 [GRCh38]
Chr10:73571482 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.679_681del (p.Lys227del) deletion Combined PSAP deficiency [RCV001528144]|Gaucher disease due to saposin C deficiency [RCV002477518]|Metachromatic leukodystrophy [RCV002307590]|PSAP-related condition [RCV003420203]|Sphingolipid activator protein 1 deficiency [RCV000755006] Chr10:71828053..71828055 [GRCh38]
Chr10:73587810..73587812 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV000505561] Chr10:71819093 [GRCh38]
Chr10:73578850 [GRCh37]
Chr10:10q22.1
pathogenic
GRCh37/hg19 10q22.1(chr10:73592341-73810742)x3 copy number gain See cases [RCV000446453] Chr10:73592341..73810742 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002778.4(PSAP):c.409C>G (p.Leu137Val) single nucleotide variant Combined PSAP deficiency [RCV001335064]|Metachromatic leukodystrophy [RCV001272680]|Sphingolipid activator protein 1 deficiency [RCV001084808]|not provided [RCV000484673] Chr10:71829044 [GRCh38]
Chr10:73588801 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn) single nucleotide variant Inborn genetic diseases [RCV000624741]|Krabbe disease due to saposin A deficiency [RCV001731817] Chr10:71831244 [GRCh38]
Chr10:73591001 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_002778.4(PSAP):c.1238A>G (p.Lys413Arg) single nucleotide variant Inborn genetic diseases [RCV003295001] Chr10:71819577 [GRCh38]
Chr10:73579334 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.607C>T (p.Gln203Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002529049]|not provided [RCV000578629] Chr10:71828127 [GRCh38]
Chr10:73587884 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.10C>G (p.Leu4Val) single nucleotide variant Metachromatic leukodystrophy [RCV001834647]|Sphingolipid activator protein 1 deficiency [RCV001087790]|not provided [RCV000512836] Chr10:71851212 [GRCh38]
Chr10:73610969 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) single nucleotide variant Metachromatic leukodystrophy [RCV001829458]|Sphingolipid activator protein 1 deficiency [RCV001088093]|not provided [RCV000513446] Chr10:71834418 [GRCh38]
Chr10:73594175 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.1006-21C>T single nucleotide variant not provided [RCV000676142] Chr10:71819921 [GRCh38]
Chr10:73579678 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.1432-22C>T single nucleotide variant Combined PSAP deficiency [RCV001538005]|Krabbe disease due to saposin A deficiency [RCV001538006]|Sphingolipid activator protein 1 deficiency [RCV001538007]|not provided [RCV000676138] Chr10:71818746 [GRCh38]
Chr10:73578503 [GRCh37]
Chr10:10q22.1
benign
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) single nucleotide variant Metachromatic leukodystrophy [RCV001830548]|Sphingolipid activator protein 1 deficiency [RCV000701117]|not provided [RCV002462050] Chr10:71819521 [GRCh38]
Chr10:73579278 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.450C>A (p.His150Gln) single nucleotide variant Metachromatic leukodystrophy [RCV001830492]|Sphingolipid activator protein 1 deficiency [RCV000688161] Chr10:71829003 [GRCh38]
Chr10:73588760 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002778.4(PSAP):c.405C>T (p.Leu135=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000940149] Chr10:71829048 [GRCh38]
Chr10:73588805 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.778-123del deletion not provided [RCV001645970] Chr10:71822130 [GRCh38]
Chr10:73581887 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.174+301C>T single nucleotide variant not provided [RCV001611527] Chr10:71834071 [GRCh38]
Chr10:73593828 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1114C>T (p.Leu372=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000979495] Chr10:71819792 [GRCh38]
Chr10:73579549 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+9del deletion Sphingolipid activator protein 1 deficiency [RCV000979504] Chr10:71819456 [GRCh38]
Chr10:73579213 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1215C>T (p.Asp405=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000941196] Chr10:71819600 [GRCh38]
Chr10:73579357 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1235G>A (p.Cys412Tyr) single nucleotide variant Parkinson disease 24, autosomal dominant, susceptibility to [RCV001580603] Chr10:71819580 [GRCh38]
Chr10:73579337 [GRCh37]
Chr10:10q22.1
risk factor
NM_002778.4(PSAP):c.613_615dup (p.Val205dup) duplication Sphingolipid activator protein 1 deficiency [RCV001004877] Chr10:71828118..71828119 [GRCh38]
Chr10:73587875..73587876 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.28C>T (p.Leu10Phe) single nucleotide variant Combined PSAP deficiency [RCV001328992]|Sphingolipid activator protein 1 deficiency [RCV001858787]|not provided [RCV000994442] Chr10:71851194 [GRCh38]
Chr10:73610951 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.249+37G>A single nucleotide variant not provided [RCV001551375] Chr10:71831809 [GRCh38]
Chr10:73591566 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-130T>A single nucleotide variant not provided [RCV001570126] Chr10:71820030 [GRCh38]
Chr10:73579787 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1431G>A (p.Leu477=) single nucleotide variant Parkinson disease 24, autosomal dominant, susceptibility to [RCV001580602] Chr10:71819031 [GRCh38]
Chr10:73578788 [GRCh37]
Chr10:10q22.1
risk factor
NM_002778.4(PSAP):c.470A>G (p.Asn157Ser) single nucleotide variant Parkinson disease, late-onset [RCV001836944]|Sphingolipid activator protein 1 deficiency [RCV002554808] Chr10:71828983 [GRCh38]
Chr10:73588740 [GRCh37]
Chr10:10q22.1
pathogenic|uncertain significance
NM_002778.4(PSAP):c.1540-319G>A single nucleotide variant not provided [RCV001612090] Chr10:71817795 [GRCh38]
Chr10:73577552 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.576+160G>C single nucleotide variant not provided [RCV001582243] Chr10:71828717 [GRCh38]
Chr10:73588474 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1161C>G (p.Leu387=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000900564] Chr10:71819745 [GRCh38]
Chr10:73579502 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) single nucleotide variant Combined PSAP deficiency [RCV001579247]|Krabbe disease due to saposin A deficiency [RCV001579113]|Metachromatic leukodystrophy [RCV001272670]|Sphingolipid activator protein 1 deficiency [RCV000925688] Chr10:71819534 [GRCh38]
Chr10:73579291 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_002778.4(PSAP):c.186C>T (p.Pro62=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000922986] Chr10:71831909 [GRCh38]
Chr10:73591666 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.588C>T (p.Asp196=) single nucleotide variant Metachromatic leukodystrophy [RCV001825865]|Sphingolipid activator protein 1 deficiency [RCV000924976]|not provided [RCV001815460] Chr10:71828146 [GRCh38]
Chr10:73587903 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.855C>T (p.Ala285=) single nucleotide variant Metachromatic leukodystrophy [RCV001280274]|Sphingolipid activator protein 1 deficiency [RCV000923352] Chr10:71821930 [GRCh38]
Chr10:73581687 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.1233G>A (p.Val411=) single nucleotide variant Metachromatic leukodystrophy [RCV001272672]|Sphingolipid activator protein 1 deficiency [RCV001416264] Chr10:71819582 [GRCh38]
Chr10:73579339 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) single nucleotide variant Metachromatic leukodystrophy [RCV001272683]|Sphingolipid activator protein 1 deficiency [RCV000967851] Chr10:71851216 [GRCh38]
Chr10:73610973 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.87G>C (p.Ser29=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001431510] Chr10:71834459 [GRCh38]
Chr10:73594216 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1425G>T (p.Val475=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001505085] Chr10:71819037 [GRCh38]
Chr10:73578794 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.990C>T (p.Asp330=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001435063] Chr10:71820255 [GRCh38]
Chr10:73580012 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.844C>T (p.Leu282=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001431049] Chr10:71821941 [GRCh38]
Chr10:73581698 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.807G>C (p.Gly269=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000976359] Chr10:71821978 [GRCh38]
Chr10:73581735 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.864C>T (p.Ala288=) single nucleotide variant Metachromatic leukodystrophy [RCV001272676]|Sphingolipid activator protein 1 deficiency [RCV000926233]|not provided [RCV003413728] Chr10:71821921 [GRCh38]
Chr10:73581678 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.852C>T (p.Pro284=) single nucleotide variant Metachromatic leukodystrophy [RCV001272677]|Sphingolipid activator protein 1 deficiency [RCV000924634] Chr10:71821933 [GRCh38]
Chr10:73581690 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) single nucleotide variant Metachromatic leukodystrophy [RCV001272682]|Sphingolipid activator protein 1 deficiency [RCV000974739] Chr10:71851206 [GRCh38]
Chr10:73610963 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.208G>T (p.Val70Phe) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000981719]|not specified [RCV003479257] Chr10:71831887 [GRCh38]
Chr10:73591644 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.570G>A (p.Gln190=) single nucleotide variant Metachromatic leukodystrophy [RCV001825825]|Sphingolipid activator protein 1 deficiency [RCV000906856] Chr10:71828883 [GRCh38]
Chr10:73588640 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.40+7C>T single nucleotide variant not provided [RCV000932870] Chr10:71851175 [GRCh38]
Chr10:73610932 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+9C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000940189] Chr10:71819456 [GRCh38]
Chr10:73579213 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1311G>A (p.Glu437=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000937549] Chr10:71819504 [GRCh38]
Chr10:73579261 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) single nucleotide variant Metachromatic leukodystrophy [RCV001272674]|Sphingolipid activator protein 1 deficiency [RCV000943030] Chr10:71819889 [GRCh38]
Chr10:73579646 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.141C>T (p.His47=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000919668] Chr10:71834405 [GRCh38]
Chr10:73594162 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) single nucleotide variant Combined PSAP deficiency [RCV001107536]|Gaucher disease due to saposin C deficiency [RCV001107537]|Krabbe disease due to saposin A deficiency [RCV001107538]|Metachromatic leukodystrophy [RCV001272673]|Sphingolipid activator protein 1 deficiency [RCV000943827] Chr10:71819760 [GRCh38]
Chr10:73579517 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.966G>A (p.Val322=) single nucleotide variant Metachromatic leukodystrophy [RCV001272675]|Sphingolipid activator protein 1 deficiency [RCV000928373] Chr10:71820279 [GRCh38]
Chr10:73580036 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.741G>A (p.Gln247=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001479180] Chr10:71825873 [GRCh38]
Chr10:73585630 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.549C>T (p.Asp183=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001394076] Chr10:71828904 [GRCh38]
Chr10:73588661 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.174+10G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000939109] Chr10:71834362 [GRCh38]
Chr10:73594119 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1479G>A (p.Glu493=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000977000] Chr10:71818677 [GRCh38]
Chr10:73578434 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1431+78_1431+83del deletion not provided [RCV000840527] Chr10:71818948..71818953 [GRCh38]
Chr10:73578705..73578710 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) single nucleotide variant Metachromatic leukodystrophy [RCV001280263]|Sphingolipid activator protein 1 deficiency [RCV000891763]|not provided [RCV003413714] Chr10:71819040 [GRCh38]
Chr10:73578797 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) single nucleotide variant Metachromatic leukodystrophy [RCV001271963]|Sphingolipid activator protein 1 deficiency [RCV000820422] Chr10:71828096 [GRCh38]
Chr10:73587853 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys) single nucleotide variant Metachromatic leukodystrophy [RCV001272679]|Sphingolipid activator protein 1 deficiency [RCV000805765] Chr10:71829038 [GRCh38]
Chr10:73588795 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.41-237C>T single nucleotide variant not provided [RCV000840521] Chr10:71834742 [GRCh38]
Chr10:73594499 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.174+216T>C single nucleotide variant not provided [RCV000840522] Chr10:71834156 [GRCh38]
Chr10:73593913 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.250-141A>G single nucleotide variant not provided [RCV000840523] Chr10:71831392 [GRCh38]
Chr10:73591149 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.777+1645del deletion not provided [RCV000840525] Chr10:71824192 [GRCh38]
Chr10:73583949 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.778-1756C>G single nucleotide variant not provided [RCV000840526] Chr10:71823763 [GRCh38]
Chr10:73583520 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) single nucleotide variant Metachromatic leukodystrophy [RCV001827101]|Sphingolipid activator protein 1 deficiency [RCV001404726] Chr10:71819768 [GRCh38]
Chr10:73579525 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) single nucleotide variant Metachromatic leukodystrophy [RCV001272669]|Sphingolipid activator protein 1 deficiency [RCV000898102] Chr10:71819088 [GRCh38]
Chr10:73578845 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NC_000010.11:g.(?_71828004)_(71834515_?)dup duplication Sphingolipid activator protein 1 deficiency [RCV001032659] Chr10:73587761..73594272 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1348C>T (p.Gln450Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001212745] Chr10:71819467 [GRCh38]
Chr10:73579224 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.*526G>A single nucleotide variant Combined PSAP deficiency [RCV001103617]|Gaucher disease due to saposin C deficiency [RCV001103618]|Krabbe disease due to saposin A deficiency [RCV001103616]|Sphingolipid activator protein 1 deficiency [RCV001103615] Chr10:71816915 [GRCh38]
Chr10:73576672 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.249+6C>T single nucleotide variant Combined PSAP deficiency [RCV001104402]|Gaucher disease due to saposin C deficiency [RCV001104400]|Inborn genetic diseases [RCV002555021]|Krabbe disease due to saposin A deficiency [RCV001104401]|Sphingolipid activator protein 1 deficiency [RCV001104399] Chr10:71831840 [GRCh38]
Chr10:73591597 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.*787C>T single nucleotide variant Combined PSAP deficiency [RCV001105456]|Gaucher disease due to saposin C deficiency [RCV001105455]|Krabbe disease due to saposin A deficiency [RCV001106601]|Sphingolipid activator protein 1 deficiency [RCV001106600] Chr10:71816654 [GRCh38]
Chr10:73576411 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.249+192T>C single nucleotide variant not provided [RCV001552079] Chr10:71831654 [GRCh38]
Chr10:73591411 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.589G>T (p.Val197Phe) single nucleotide variant not specified [RCV003317828] Chr10:71828145 [GRCh38]
Chr10:73587902 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.175-117C>T single nucleotide variant not provided [RCV001695986] Chr10:71832037 [GRCh38]
Chr10:73591794 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1351-26A>G single nucleotide variant not provided [RCV001609181] Chr10:71819137 [GRCh38]
Chr10:73578894 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1005+44C>T single nucleotide variant not provided [RCV001552903] Chr10:71820196 [GRCh38]
Chr10:73579953 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1122G>A (p.Glu374=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000930209] Chr10:71819784 [GRCh38]
Chr10:73579541 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.153C>T (p.Thr51=) single nucleotide variant Metachromatic leukodystrophy [RCV001272681]|Sphingolipid activator protein 1 deficiency [RCV000907141] Chr10:71834393 [GRCh38]
Chr10:73594150 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.942C>T (p.Tyr314=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001459636] Chr10:71820303 [GRCh38]
Chr10:73580060 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+9C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001505974] Chr10:71831837 [GRCh38]
Chr10:73591594 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.576+7C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001435529] Chr10:71828870 [GRCh38]
Chr10:73588627 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.117G>A (p.Ala39=) single nucleotide variant Metachromatic leukodystrophy [RCV001830942]|Sphingolipid activator protein 1 deficiency [RCV000887576] Chr10:71834429 [GRCh38]
Chr10:73594186 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.351C>A (p.Ile117=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001456485] Chr10:71831150 [GRCh38]
Chr10:73590907 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.120C>T (p.Ser40=) single nucleotide variant Metachromatic leukodystrophy [RCV001832208]|Sphingolipid activator protein 1 deficiency [RCV000961169]|not provided [RCV003413758] Chr10:71834426 [GRCh38]
Chr10:73594183 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) single nucleotide variant Metachromatic leukodystrophy [RCV001825850]|Sphingolipid activator protein 1 deficiency [RCV000918601] Chr10:71819073 [GRCh38]
Chr10:73578830 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.*346C>T single nucleotide variant Combined PSAP deficiency [RCV001105560]|Gaucher disease due to saposin C deficiency [RCV001105563]|Krabbe disease due to saposin A deficiency [RCV001105562]|Sphingolipid activator protein 1 deficiency [RCV001105561] Chr10:71817095 [GRCh38]
Chr10:73576852 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1197C>T (p.His399=) single nucleotide variant Combined PSAP deficiency [RCV001106865]|Gaucher disease due to saposin C deficiency [RCV001106866]|Krabbe disease due to saposin A deficiency [RCV001106867]|Sphingolipid activator protein 1 deficiency [RCV001106864] Chr10:71819618 [GRCh38]
Chr10:73579375 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.778-1889C>T single nucleotide variant not provided [RCV001169959] Chr10:71823896 [GRCh38]
Chr10:73583653 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.*376A>G single nucleotide variant Combined PSAP deficiency [RCV001103620]|Gaucher disease due to saposin C deficiency [RCV001105559]|Krabbe disease due to saposin A deficiency [RCV001103619]|Sphingolipid activator protein 1 deficiency [RCV001105558] Chr10:71817065 [GRCh38]
Chr10:73576822 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp) single nucleotide variant Metachromatic leukodystrophy [RCV001828962]|Sphingolipid activator protein 1 deficiency [RCV001240928] Chr10:71819784 [GRCh38]
Chr10:73579541 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) single nucleotide variant Combined PSAP deficiency [RCV001104312]|Gaucher disease due to saposin C deficiency [RCV001104309]|Krabbe disease due to saposin A deficiency [RCV001104311]|Sphingolipid activator protein 1 deficiency [RCV001104310]|not specified [RCV003235470] Chr10:71828888 [GRCh38]
Chr10:73588645 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_002778.4(PSAP):c.721-1G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001244145] Chr10:71825894 [GRCh38]
Chr10:73585651 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.250-5C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV000890064] Chr10:71831256 [GRCh38]
Chr10:73591013 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1170C>T (p.Gly390=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002066151] Chr10:71819736 [GRCh38]
Chr10:73579493 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-130T>C single nucleotide variant not provided [RCV001556620] Chr10:71820030 [GRCh38]
Chr10:73579787 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1539+222A>T single nucleotide variant not provided [RCV001621860] Chr10:71818395 [GRCh38]
Chr10:73578152 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.720+287del deletion not provided [RCV001555830] Chr10:71827727 [GRCh38]
Chr10:73587484 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-56G>A single nucleotide variant not provided [RCV001556126] Chr10:71834561 [GRCh38]
Chr10:73594318 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.576+213_576+214del deletion not provided [RCV001547550] Chr10:71828663..71828664 [GRCh38]
Chr10:73588420..73588421 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-102C>A single nucleotide variant not provided [RCV001715877] Chr10:71832022 [GRCh38]
Chr10:73591779 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.175-140A>C single nucleotide variant not provided [RCV001687275] Chr10:71832060 [GRCh38]
Chr10:73591817 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.375+226G>A single nucleotide variant not provided [RCV001677072] Chr10:71830900 [GRCh38]
Chr10:73590657 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.41-96G>A single nucleotide variant not provided [RCV001619718] Chr10:71834601 [GRCh38]
Chr10:73594358 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.577-56G>A single nucleotide variant not provided [RCV001688892] Chr10:71828213 [GRCh38]
Chr10:73587970 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.721-287C>G single nucleotide variant not provided [RCV001595733] Chr10:71826180 [GRCh38]
Chr10:73585937 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.40+200G>A single nucleotide variant not provided [RCV001594326] Chr10:71850982 [GRCh38]
Chr10:73610739 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.720+270dup duplication not provided [RCV001677173] Chr10:71827726..71827727 [GRCh38]
Chr10:73587483..73587484 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.778-270C>T single nucleotide variant not provided [RCV001715343] Chr10:71822277 [GRCh38]
Chr10:73582034 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.577-279C>T single nucleotide variant not provided [RCV001698528] Chr10:71828436 [GRCh38]
Chr10:73588193 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.249+73C>T single nucleotide variant not provided [RCV001658699] Chr10:71831773 [GRCh38]
Chr10:73591530 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.175-83C>T single nucleotide variant not provided [RCV001588596] Chr10:71832003 [GRCh38]
Chr10:73591760 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-53C>T single nucleotide variant not provided [RCV001641142] Chr10:71834558 [GRCh38]
Chr10:73594315 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) single nucleotide variant Combined PSAP deficiency [RCV001105747]|Gaucher disease due to saposin C deficiency [RCV001105748]|Krabbe disease due to saposin A deficiency [RCV001105745]|Sphingolipid activator protein 1 deficiency [RCV001105746] Chr10:71819486 [GRCh38]
Chr10:73579243 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1A>G (p.Met1Val) single nucleotide variant Metachromatic leukodystrophy [RCV001833645]|Sphingolipid activator protein 1 deficiency [RCV001066448] Chr10:71851221 [GRCh38]
Chr10:73610978 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.*737G>A single nucleotide variant Combined PSAP deficiency [RCV001106602]|Gaucher disease due to saposin C deficiency [RCV001108768]|Krabbe disease due to saposin A deficiency [RCV001108767]|Sphingolipid activator protein 1 deficiency [RCV001106603] Chr10:71816704 [GRCh38]
Chr10:73576461 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.*238G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001106701]|Combined PSAP deficiency [RCV001106705]|Gaucher disease due to saposin C deficiency [RCV001106702]|Krabbe disease due to saposin A deficiency [RCV001106703]|Sphingolipid activator protein 1 deficiency [RCV001106704]|Usher syndrome type 1D [RCV001106700] Chr10:71817203 [GRCh38]
Chr10:73576960 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.423C>T (p.Leu141=) single nucleotide variant Combined PSAP deficiency [RCV001107069]|Gaucher disease due to saposin C deficiency [RCV001107067]|Krabbe disease due to saposin A deficiency [RCV001107070]|Sphingolipid activator protein 1 deficiency [RCV001107068] Chr10:71829030 [GRCh38]
Chr10:73588787 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.*596A>G single nucleotide variant Combined PSAP deficiency [RCV001108771]|Gaucher disease due to saposin C deficiency [RCV001108770]|Krabbe disease due to saposin A deficiency [RCV001108772]|Sphingolipid activator protein 1 deficiency [RCV001108769] Chr10:71816845 [GRCh38]
Chr10:73576602 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.40+145CTTTCTCTGG[3] microsatellite not provided [RCV001588458] Chr10:71851017..71851018 [GRCh38]
Chr10:73610774..73610775 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1432-147G>A single nucleotide variant not provided [RCV001691019] Chr10:71818871 [GRCh38]
Chr10:73578628 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1005+129G>A single nucleotide variant not provided [RCV001647904] Chr10:71820111 [GRCh38]
Chr10:73579868 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1540-272del deletion not provided [RCV001609752] Chr10:71817748 [GRCh38]
Chr10:73577505 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1358A>C (p.Gln453Pro) single nucleotide variant Parkinson disease 24, autosomal dominant, susceptibility to [RCV001580601] Chr10:71819104 [GRCh38]
Chr10:73578861 [GRCh37]
Chr10:10q22.1
risk factor
NM_002778.4(PSAP):c.778-1822dup duplication not provided [RCV001672111] Chr10:71823816..71823817 [GRCh38]
Chr10:73583573..73583574 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.375+208G>A single nucleotide variant not provided [RCV001538581] Chr10:71830918 [GRCh38]
Chr10:73590675 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) single nucleotide variant Combined PSAP deficiency [RCV001107065]|Gaucher disease due to saposin C deficiency [RCV001107064]|Krabbe disease due to saposin A deficiency [RCV001107066]|Sphingolipid activator protein 1 deficiency [RCV001107063] Chr10:71828945 [GRCh38]
Chr10:73588702 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.*1008C>T single nucleotide variant Combined PSAP deficiency [RCV001103522]|Gaucher disease due to saposin C deficiency [RCV001108683]|Krabbe disease due to saposin A deficiency [RCV001108682]|Sphingolipid activator protein 1 deficiency [RCV001103521] Chr10:71816433 [GRCh38]
Chr10:73576190 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) single nucleotide variant Combined PSAP deficiency [RCV001107737]|Gaucher disease due to saposin C deficiency [RCV001107736]|Krabbe disease due to saposin A deficiency [RCV001107738]|Sphingolipid activator protein 1 deficiency [RCV001107735] Chr10:71829034 [GRCh38]
Chr10:73588791 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.*90C>T single nucleotide variant Combined PSAP deficiency [RCV001103715]|Gaucher disease due to saposin C deficiency [RCV001103717]|Krabbe disease due to saposin A deficiency [RCV001103718]|Sphingolipid activator protein 1 deficiency [RCV001103716] Chr10:71817351 [GRCh38]
Chr10:73577108 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys) single nucleotide variant Metachromatic leukodystrophy [RCV001827403]|Sphingolipid activator protein 1 deficiency [RCV001063288] Chr10:71828089 [GRCh38]
Chr10:73587846 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.319A>C (p.Lys107Gln) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001034483] Chr10:71831182 [GRCh38]
Chr10:73590939 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.816_823del (p.Asp272fs) deletion Sphingolipid activator protein 1 deficiency [RCV002570572]|not provided [RCV001254872] Chr10:71821962..71821969 [GRCh38]
Chr10:73581719..73581726 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.113C>T (p.Thr38Met) single nucleotide variant Combined PSAP deficiency [RCV001335062]|Sphingolipid activator protein 1 deficiency [RCV002546710] Chr10:71834433 [GRCh38]
Chr10:73594190 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) single nucleotide variant Metachromatic leukodystrophy [RCV001280265]|Sphingolipid activator protein 1 deficiency [RCV002541740] Chr10:71819492 [GRCh38]
Chr10:73579249 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1539+215T>A single nucleotide variant not provided [RCV001663034] Chr10:71818402 [GRCh38]
Chr10:73578159 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV002480920]|Metachromatic leukodystrophy [RCV001280268]|Sphingolipid activator protein 1 deficiency [RCV001871601] Chr10:71819714 [GRCh38]
Chr10:73579471 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp) single nucleotide variant Inborn genetic diseases [RCV003355353]|Metachromatic leukodystrophy [RCV001280270]|Sphingolipid activator protein 1 deficiency [RCV002537887]|not provided [RCV003481049] Chr10:71819769 [GRCh38]
Chr10:73579526 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_002778.4(PSAP):c.587A>G (p.Asp196Gly) single nucleotide variant Metachromatic leukodystrophy [RCV001280276] Chr10:71828147 [GRCh38]
Chr10:73587904 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.41C>T (p.Ala14Val) single nucleotide variant Metachromatic leukodystrophy [RCV001277794] Chr10:71834505 [GRCh38]
Chr10:73594262 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) single nucleotide variant Metachromatic leukodystrophy [RCV001280272]|Sphingolipid activator protein 1 deficiency [RCV002537888] Chr10:71819888 [GRCh38]
Chr10:73579645 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1557A>G (p.Lys519=) single nucleotide variant Metachromatic leukodystrophy [RCV001280259] Chr10:71817459 [GRCh38]
Chr10:73577216 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) single nucleotide variant Inborn genetic diseases [RCV002542952]|Metachromatic leukodystrophy [RCV001280261]|Sphingolipid activator protein 1 deficiency [RCV002541739] Chr10:71818661 [GRCh38]
Chr10:73578418 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn) single nucleotide variant Metachromatic leukodystrophy [RCV001280266]|Sphingolipid activator protein 1 deficiency [RCV001871600] Chr10:71819493 [GRCh38]
Chr10:73579250 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.589G>A (p.Val197Ile) single nucleotide variant Metachromatic leukodystrophy [RCV001280275]|Sphingolipid activator protein 1 deficiency [RCV002542953] Chr10:71828145 [GRCh38]
Chr10:73587902 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1350+10G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001414981] Chr10:71819455 [GRCh38]
Chr10:73579212 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.714C>T (p.Ala238=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001394744] Chr10:71828020 [GRCh38]
Chr10:73587777 [GRCh37]
Chr10:10q22.1
likely benign
NM_001042465.2(PSAP):c.-130T>C single nucleotide variant Combined PSAP deficiency [RCV001537937]|Krabbe disease due to saposin A deficiency [RCV001537938]|Sphingolipid activator protein 1 deficiency [RCV001537939]|not provided [RCV001692463] Chr10:71851351 [GRCh38]
Chr10:73611108 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln) single nucleotide variant Metachromatic leukodystrophy [RCV001277790]|Sphingolipid activator protein 1 deficiency [RCV002542883] Chr10:71831131 [GRCh38]
Chr10:73590888 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV002504393]|Metachromatic leukodystrophy [RCV001277793] Chr10:71834479 [GRCh38]
Chr10:73594236 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.910-7T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001433669] Chr10:71820342 [GRCh38]
Chr10:73580099 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.522C>T (p.Asn174=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001421405] Chr10:71828931 [GRCh38]
Chr10:73588688 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+8C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001433261] Chr10:71819457 [GRCh38]
Chr10:73579214 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1017C>G (p.Leu339=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001397272] Chr10:71819889 [GRCh38]
Chr10:73579646 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1120del (p.Glu374fs) deletion Sphingolipid activator protein 1 deficiency [RCV001383261] Chr10:71819786 [GRCh38]
Chr10:73579543 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.11T>C (p.Leu4Pro) single nucleotide variant Combined PSAP deficiency [RCV001335063]|Sphingolipid activator protein 1 deficiency [RCV001871865]|not provided [RCV001760435] Chr10:71851211 [GRCh38]
Chr10:73610968 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.794G>A (p.Cys265Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001301283] Chr10:71821991 [GRCh38]
Chr10:73581748 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1537A>G (p.Asn513Asp) single nucleotide variant Metachromatic leukodystrophy [RCV001280260] Chr10:71818619 [GRCh38]
Chr10:73578376 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1196A>G (p.His399Arg) single nucleotide variant Metachromatic leukodystrophy [RCV001280267] Chr10:71819619 [GRCh38]
Chr10:73579376 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) single nucleotide variant Metachromatic leukodystrophy [RCV001280269]|Sphingolipid activator protein 1 deficiency [RCV001434507] Chr10:71819733 [GRCh38]
Chr10:73579490 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.577G>C (p.Asp193His) single nucleotide variant Metachromatic leukodystrophy [RCV001280278]|Sphingolipid activator protein 1 deficiency [RCV001871602] Chr10:71828157 [GRCh38]
Chr10:73587914 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1432-3T>C single nucleotide variant Metachromatic leukodystrophy [RCV001280262]|Sphingolipid activator protein 1 deficiency [RCV002537886] Chr10:71818727 [GRCh38]
Chr10:73578484 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1381G>A (p.Val461Met) single nucleotide variant Metachromatic leukodystrophy [RCV001280264]|Sphingolipid activator protein 1 deficiency [RCV001871599] Chr10:71819081 [GRCh38]
Chr10:73578838 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) single nucleotide variant Metachromatic leukodystrophy [RCV001280277]|Sphingolipid activator protein 1 deficiency [RCV002069482]|not provided [RCV001354629] Chr10:71828156 [GRCh38]
Chr10:73587913 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) single nucleotide variant Metachromatic leukodystrophy [RCV001280273]|Sphingolipid activator protein 1 deficiency [RCV002541742] Chr10:71820329 [GRCh38]
Chr10:73580086 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.503T>C (p.Val168Ala) single nucleotide variant Inborn genetic diseases [RCV002542954]|Metachromatic leukodystrophy [RCV001280279] Chr10:71828950 [GRCh38]
Chr10:73588707 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser) single nucleotide variant Metachromatic leukodystrophy [RCV001277791]|Sphingolipid activator protein 1 deficiency [RCV002542884] Chr10:71831856 [GRCh38]
Chr10:73591613 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) single nucleotide variant Metachromatic leukodystrophy [RCV001277792]|Sphingolipid activator protein 1 deficiency [RCV002537775] Chr10:71834419 [GRCh38]
Chr10:73594176 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.26G>A (p.Ser9Asn) single nucleotide variant Metachromatic leukodystrophy [RCV001277796] Chr10:71851196 [GRCh38]
Chr10:73610953 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV001449850]|Metachromatic leukodystrophy [RCV001280271]|Sphingolipid activator protein 1 deficiency [RCV002541741] Chr10:71819830 [GRCh38]
Chr10:73579587 [GRCh37]
Chr10:10q22.1
likely pathogenic|risk factor|uncertain significance
NM_002778.4(PSAP):c.1020C>T (p.Asp340=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001395505] Chr10:71819886 [GRCh38]
Chr10:73579643 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser) single nucleotide variant Metachromatic leukodystrophy [RCV001835410]|Sphingolipid activator protein 1 deficiency [RCV001297745] Chr10:71834385 [GRCh38]
Chr10:73594142 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1192+7G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001394084] Chr10:71819707 [GRCh38]
Chr10:73579464 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.354G>C (p.Leu118=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001450320] Chr10:71831147 [GRCh38]
Chr10:73590904 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1192+7G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001468169] Chr10:71819707 [GRCh38]
Chr10:73579464 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-7G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001417181] Chr10:71819907 [GRCh38]
Chr10:73579664 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1233G>T (p.Val411=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001436411] Chr10:71819582 [GRCh38]
Chr10:73579339 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.213C>T (p.Thr71=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001465860] Chr10:71831882 [GRCh38]
Chr10:73591639 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1351-5T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001486289] Chr10:71819116 [GRCh38]
Chr10:73578873 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.40+9T>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001480579] Chr10:71851173 [GRCh38]
Chr10:73610930 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1419C>T (p.Ser473=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001485429] Chr10:71819043 [GRCh38]
Chr10:73578800 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1351-10T>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001474377] Chr10:71819121 [GRCh38]
Chr10:73578878 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.201A>G (p.Lys67=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001474416] Chr10:71831894 [GRCh38]
Chr10:73591651 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.27C>T (p.Ser9=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001498112] Chr10:71851195 [GRCh38]
Chr10:73610952 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.48C>T (p.Ala16=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001442719] Chr10:71834498 [GRCh38]
Chr10:73594255 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1431+7C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001401313] Chr10:71819024 [GRCh38]
Chr10:73578781 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-8C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001491879] Chr10:71817484 [GRCh38]
Chr10:73577241 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) single nucleotide variant Inborn genetic diseases [RCV003375322]|Sphingolipid activator protein 1 deficiency [RCV001488047] Chr10:71819588 [GRCh38]
Chr10:73579345 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.438A>G (p.Ala146=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001424067] Chr10:71829015 [GRCh38]
Chr10:73588772 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1158C>T (p.His386=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001419179] Chr10:71819748 [GRCh38]
Chr10:73579505 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1323C>T (p.Ser441=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001474782] Chr10:71819492 [GRCh38]
Chr10:73579249 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.789G>A (p.Glu263=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001440580] Chr10:71821996 [GRCh38]
Chr10:73581753 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.576+10C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001492056] Chr10:71828867 [GRCh38]
Chr10:73588624 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.912G>A (p.Lys304=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001467835] Chr10:71820333 [GRCh38]
Chr10:73580090 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+10G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001419545] Chr10:71831836 [GRCh38]
Chr10:73591593 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-252A>G single nucleotide variant not provided [RCV001608822] Chr10:71834757 [GRCh38]
Chr10:73594514 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1050G>A (p.Pro350=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001428842] Chr10:71819856 [GRCh38]
Chr10:73579613 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1092C>T (p.Tyr364=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001443571] Chr10:71819814 [GRCh38]
Chr10:73579571 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.2T>G (p.Met1Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001389490] Chr10:71851220 [GRCh38]
Chr10:73610977 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.399T>C (p.Ser133=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001446872] Chr10:71829054 [GRCh38]
Chr10:73588811 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.573A>G (p.Pro191=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001449560] Chr10:71828880 [GRCh38]
Chr10:73588637 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1155G>T (p.Leu385=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001415991] Chr10:71819751 [GRCh38]
Chr10:73579508 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1497A>G (p.Pro499=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001441951] Chr10:71818659 [GRCh38]
Chr10:73578416 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-8_1021del deletion Combined PSAP deficiency [RCV001542767] Chr10:71819885..71819908 [GRCh38]
Chr10:73579642..73579665 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.698T>G (p.Leu233Arg) single nucleotide variant Combined PSAP deficiency [RCV001542768] Chr10:71828036 [GRCh38]
Chr10:73587793 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1296C>T (p.Ile432=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001423919] Chr10:71819519 [GRCh38]
Chr10:73579276 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.687G>A (p.Glu229=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001410936] Chr10:71828047 [GRCh38]
Chr10:73587804 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1191C>G (p.Thr397=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001447676] Chr10:71819715 [GRCh38]
Chr10:73579472 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-7A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001437896] Chr10:71834512 [GRCh38]
Chr10:73594269 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1179G>A (p.Leu393=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001401232] Chr10:71819727 [GRCh38]
Chr10:73579484 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.9C>G (p.Ala3=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001402650] Chr10:71851213 [GRCh38]
Chr10:73610970 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.75C>T (p.Cys25=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001408914] Chr10:71834471 [GRCh38]
Chr10:73594228 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.54G>C (p.Pro18=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001438353] Chr10:71834492 [GRCh38]
Chr10:73594249 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1431+116C>T single nucleotide variant Combined PSAP deficiency [RCV001538008]|Krabbe disease due to saposin A deficiency [RCV001538009]|Sphingolipid activator protein 1 deficiency [RCV001538010]|not provided [RCV001707895] Chr10:71818915 [GRCh38]
Chr10:73578672 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.300G>A (p.Pro100=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001427564] Chr10:71831201 [GRCh38]
Chr10:73590958 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1545C>T (p.Val515=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001439256] Chr10:71817471 [GRCh38]
Chr10:73577228 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.621C>T (p.Asp207=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001457400] Chr10:71828113 [GRCh38]
Chr10:73587870 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+68T>C single nucleotide variant not provided [RCV001716669] Chr10:71825769 [GRCh38]
Chr10:73585526 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.175-152C>T single nucleotide variant not provided [RCV001695616] Chr10:71832072 [GRCh38]
Chr10:73591829 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.1560C>T (p.Arg520=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001458965] Chr10:71817456 [GRCh38]
Chr10:73577213 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-11GT[2] microsatellite Sphingolipid activator protein 1 deficiency [RCV001496766] Chr10:71819906..71819907 [GRCh38]
Chr10:73579663..73579664 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1539+235dup duplication not provided [RCV001672033] Chr10:71818375..71818376 [GRCh38]
Chr10:73578132..73578133 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.174+164C>T single nucleotide variant not provided [RCV001616225] Chr10:71834208 [GRCh38]
Chr10:73593965 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.249+10G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001460147] Chr10:71831836 [GRCh38]
Chr10:73591593 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1287G>A (p.Lys429=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001497244] Chr10:71819528 [GRCh38]
Chr10:73579285 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.591T>G (p.Val197=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001460738] Chr10:71828143 [GRCh38]
Chr10:73587900 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.888G>A (p.Leu296=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001453558] Chr10:71821897 [GRCh38]
Chr10:73581654 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.642C>T (p.Thr214=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001478015] Chr10:71828092 [GRCh38]
Chr10:73587849 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1083G>A (p.Val361=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001489359] Chr10:71819823 [GRCh38]
Chr10:73579580 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+256_777+269del deletion not provided [RCV001616712] Chr10:71825568..71825581 [GRCh38]
Chr10:73585325..73585338 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.885C>T (p.Ala295=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001472561] Chr10:71821900 [GRCh38]
Chr10:73581657 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1062G>A (p.Ser354=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001431101] Chr10:71819844 [GRCh38]
Chr10:73579601 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+1G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001378136] Chr10:71819464 [GRCh38]
Chr10:73579221 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1540-10C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001468409] Chr10:71817486 [GRCh38]
Chr10:73577243 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+7C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001486876] Chr10:71819458 [GRCh38]
Chr10:73579215 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) single nucleotide variant Metachromatic leukodystrophy [RCV001832639]|Sphingolipid activator protein 1 deficiency [RCV001490194] Chr10:71819474 [GRCh38]
Chr10:73579231 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.268T>C (p.Leu90=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001427136] Chr10:71831233 [GRCh38]
Chr10:73590990 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.294G>A (p.Pro98=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001481504] Chr10:71831207 [GRCh38]
Chr10:73590964 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.717C>T (p.Asp239=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001481556] Chr10:71828017 [GRCh38]
Chr10:73587774 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.54G>A (p.Pro18=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001457458] Chr10:71834492 [GRCh38]
Chr10:73594249 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.633T>C (p.Ala211=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001442480] Chr10:71828101 [GRCh38]
Chr10:73587858 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.552C>A (p.Gly184=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001482964] Chr10:71828901 [GRCh38]
Chr10:73588658 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.721-9T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001491087] Chr10:71825902 [GRCh38]
Chr10:73585659 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.894G>A (p.Leu298=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001451242] Chr10:71821891 [GRCh38]
Chr10:73581648 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.915C>T (p.His305=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001486727] Chr10:71820330 [GRCh38]
Chr10:73580087 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.960C>T (p.Phe320=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001505111] Chr10:71820285 [GRCh38]
Chr10:73580042 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.402T>C (p.Ala134=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001427519] Chr10:71829051 [GRCh38]
Chr10:73588808 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1518A>T (p.Thr506=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001496819] Chr10:71818638 [GRCh38]
Chr10:73578395 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-9C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001505211] Chr10:71831260 [GRCh38]
Chr10:73591017 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.834C>T (p.Pro278=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001436584] Chr10:71821951 [GRCh38]
Chr10:73581708 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.594C>T (p.Cys198=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001443401] Chr10:71828140 [GRCh38]
Chr10:73587897 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.663C>T (p.Ala221=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001434530] Chr10:71828071 [GRCh38]
Chr10:73587828 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.822G>A (p.Val274=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001416399] Chr10:71821963 [GRCh38]
Chr10:73581720 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.9C>T (p.Ala3=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001423932] Chr10:71851213 [GRCh38]
Chr10:73610970 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.393G>A (p.Val131=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001497231] Chr10:71829060 [GRCh38]
Chr10:73588817 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.60T>C (p.Leu20=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001405186] Chr10:71834486 [GRCh38]
Chr10:73594243 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1045C>T (p.Leu349=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001456595] Chr10:71819861 [GRCh38]
Chr10:73579618 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1128C>T (p.Val376=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001482472] Chr10:71819778 [GRCh38]
Chr10:73579535 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1338T>C (p.Pro446=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001417094] Chr10:71819477 [GRCh38]
Chr10:73579234 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.398C>G (p.Ser133Cys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003106876] Chr10:71829055 [GRCh38]
Chr10:73588812 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.209T>G (p.Val70Gly) single nucleotide variant Krabbe disease due to saposin A deficiency [RCV001731262] Chr10:71831886 [GRCh38]
Chr10:73591643 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.720+2_720+5del deletion not provided [RCV001782687] Chr10:71828009..71828012 [GRCh38]
Chr10:73587766..73587769 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1005+1G>A single nucleotide variant Gaucher disease due to saposin C deficiency [RCV001801340]|Sphingolipid activator protein 1 deficiency [RCV002541348] Chr10:71820239 [GRCh38]
Chr10:73579996 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_002778.4(PSAP):c.835A>G (p.Met279Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002538752]|not provided [RCV001757970] Chr10:71821950 [GRCh38]
Chr10:73581707 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.763A>T (p.Met255Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001950647] Chr10:71825851 [GRCh38]
Chr10:73585608 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.358A>G (p.Ile120Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002009344] Chr10:71831143 [GRCh38]
Chr10:73590900 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.910-2A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001971771] Chr10:71820337 [GRCh38]
Chr10:73580094 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.637C>T (p.Arg213Trp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001896595] Chr10:71828097 [GRCh38]
Chr10:73587854 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.5A>T (p.Tyr2Phe) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002024240] Chr10:71851217 [GRCh38]
Chr10:73610974 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.194T>C (p.Ile65Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002005064] Chr10:71831901 [GRCh38]
Chr10:73591658 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.856A>G (p.Lys286Glu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001914924] Chr10:71821929 [GRCh38]
Chr10:73581686 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.490A>G (p.Met164Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002045207] Chr10:71828963 [GRCh38]
Chr10:73588720 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1431+11C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001896624] Chr10:71819020 [GRCh38]
Chr10:73578777 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.902C>T (p.Pro301Leu) single nucleotide variant Inborn genetic diseases [RCV002562773]|Sphingolipid activator protein 1 deficiency [RCV001965048] Chr10:71821883 [GRCh38]
Chr10:73581640 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.771G>A (p.Met257Ile) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002004509] Chr10:71825843 [GRCh38]
Chr10:73585600 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.797C>T (p.Ala266Val) single nucleotide variant Inborn genetic diseases [RCV003264114]|Sphingolipid activator protein 1 deficiency [RCV002543316]|not specified [RCV001844578] Chr10:71821988 [GRCh38]
Chr10:73581745 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.337T>G (p.Tyr113Asp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001896152] Chr10:71831164 [GRCh38]
Chr10:73590921 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.190G>A (p.Asp64Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001895738] Chr10:71831905 [GRCh38]
Chr10:73591662 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.76A>G (p.Thr26Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001968211] Chr10:71834470 [GRCh38]
Chr10:73594227 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1227C>G (p.Cys409Trp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001945260] Chr10:71819588 [GRCh38]
Chr10:73579345 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.784A>G (p.Lys262Glu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002022130] Chr10:71822001 [GRCh38]
Chr10:73581758 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.125G>A (p.Cys42Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001870726] Chr10:71834421 [GRCh38]
Chr10:73594178 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1472G>A (p.Gly491Glu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002005624] Chr10:71818684 [GRCh38]
Chr10:73578441 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1067A>C (p.Glu356Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002005680] Chr10:71819839 [GRCh38]
Chr10:73579596 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.608A>G (p.Gln203Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002005195] Chr10:71828126 [GRCh38]
Chr10:73587883 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.37G>T (p.Ala13Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001968123] Chr10:71851185 [GRCh38]
Chr10:73610942 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.727A>G (p.Asn243Asp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001872880] Chr10:71825887 [GRCh38]
Chr10:73585644 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1297C>G (p.Leu433Val) single nucleotide variant Inborn genetic diseases [RCV002548919]|Sphingolipid activator protein 1 deficiency [RCV002043600] Chr10:71819518 [GRCh38]
Chr10:73579275 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.38C>T (p.Ala13Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001946298] Chr10:71851184 [GRCh38]
Chr10:73610941 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1274A>G (p.Lys425Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002006669] Chr10:71819541 [GRCh38]
Chr10:73579298 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1284C>T (p.Thr428=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002041500] Chr10:71819531 [GRCh38]
Chr10:73579288 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.10C>T (p.Leu4Phe) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001986705] Chr10:71851212 [GRCh38]
Chr10:73610969 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.928A>G (p.Lys310Glu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001928309] Chr10:71820317 [GRCh38]
Chr10:73580074 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1262G>T (p.Arg421Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001910681] Chr10:71819553 [GRCh38]
Chr10:73579310 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.15C>A (p.Phe5Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001945953] Chr10:71851207 [GRCh38]
Chr10:73610964 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.41-17_42del deletion Sphingolipid activator protein 1 deficiency [RCV001986796] Chr10:71834504..71834522 [GRCh38]
Chr10:73594261..73594279 [GRCh37]
Chr10:10q22.1
likely pathogenic
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3
pathogenic
NM_002778.4(PSAP):c.376-9T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002022124] Chr10:71829086 [GRCh38]
Chr10:73588843 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.610A>T (p.Met204Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001985146] Chr10:71828124 [GRCh38]
Chr10:73587881 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.346G>C (p.Val116Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001965809] Chr10:71831155 [GRCh38]
Chr10:73590912 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.19C>A (p.Leu7Met) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002039658] Chr10:71851203 [GRCh38]
Chr10:73610960 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.576+3A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001984190] Chr10:71828874 [GRCh38]
Chr10:73588631 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1006-12C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002023327] Chr10:71819912 [GRCh38]
Chr10:73579669 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1088C>G (p.Thr363Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001910834] Chr10:71819818 [GRCh38]
Chr10:73579575 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1049C>G (p.Pro350Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001890838] Chr10:71819857 [GRCh38]
Chr10:73579614 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.226A>G (p.Met76Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001990971] Chr10:71831869 [GRCh38]
Chr10:73591626 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.720+5G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001943102] Chr10:71828009 [GRCh38]
Chr10:73587766 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.214G>A (p.Ala72Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001938927] Chr10:71831881 [GRCh38]
Chr10:73591638 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.553C>T (p.Pro185Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001884346] Chr10:71828900 [GRCh38]
Chr10:73588657 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.249+20G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002037138] Chr10:71831826 [GRCh38]
Chr10:73591583 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1352G>A (p.Cys451Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001963350] Chr10:71819110 [GRCh38]
Chr10:73578867 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1180C>T (p.Pro394Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002014457] Chr10:71819726 [GRCh38]
Chr10:73579483 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1063G>C (p.Glu355Gln) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001922585] Chr10:71819843 [GRCh38]
Chr10:73579600 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1130G>A (p.Ser377Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002038245] Chr10:71819776 [GRCh38]
Chr10:73579533 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.695G>T (p.Arg232Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002028637] Chr10:71828039 [GRCh38]
Chr10:73587796 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.576+9_576+20del deletion Sphingolipid activator protein 1 deficiency [RCV002001359] Chr10:71828857..71828868 [GRCh38]
Chr10:73588614..73588625 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.175-5C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001937630] Chr10:71831925 [GRCh38]
Chr10:73591682 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.428A>G (p.Lys143Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001959979] Chr10:71829025 [GRCh38]
Chr10:73588782 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.576+1G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002038695] Chr10:71828876 [GRCh38]
Chr10:73588633 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.39G>T (p.Ala13=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001888774] Chr10:71851183 [GRCh38]
Chr10:73610940 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.40+6C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001979827] Chr10:71851176 [GRCh38]
Chr10:73610933 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_73587761)_(73588844_?)del deletion Sphingolipid activator protein 1 deficiency [RCV001962174] Chr10:73587761..73588844 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1291G>A (p.Glu431Lys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001956777] Chr10:71819524 [GRCh38]
Chr10:73579281 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.376-3C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001887948] Chr10:71829080 [GRCh38]
Chr10:73588837 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.889G>T (p.Glu297Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001942173] Chr10:71821896 [GRCh38]
Chr10:73581653 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1049C>T (p.Pro350Leu) single nucleotide variant Combined PSAP deficiency [RCV003333191]|Sphingolipid activator protein 1 deficiency [RCV001925974]|not provided [RCV003229903] Chr10:71819857 [GRCh38]
Chr10:73579614 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1081G>A (p.Val361Met) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002049355] Chr10:71819825 [GRCh38]
Chr10:73579582 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.695G>A (p.Arg232His) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV002507741]|Sphingolipid activator protein 1 deficiency [RCV001991035] Chr10:71828039 [GRCh38]
Chr10:73587796 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1280G>A (p.Ser427Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001996163] Chr10:71819535 [GRCh38]
Chr10:73579292 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1243C>G (p.Leu415Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002033496] Chr10:71819572 [GRCh38]
Chr10:73579329 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1093G>T (p.Gly365Cys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001877454] Chr10:71819813 [GRCh38]
Chr10:73579570 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1262G>A (p.Arg421His) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001951820] Chr10:71819553 [GRCh38]
Chr10:73579310 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1351-2A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001993817] Chr10:71819113 [GRCh38]
Chr10:73578870 [GRCh37]
Chr10:10q22.1
likely pathogenic
NC_000010.10:g.(?_73569557)_(73594282_?)dup duplication Sphingolipid activator protein 1 deficiency [RCV001877719] Chr10:73569557..73594282 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.865T>C (p.Ser289Pro) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001996210] Chr10:71821920 [GRCh38]
Chr10:73581677 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.332A>G (p.Asp111Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002025972] Chr10:71831169 [GRCh38]
Chr10:73590926 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1540-5A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001950846] Chr10:71817481 [GRCh38]
Chr10:73577238 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1389C>G (p.Ile463Met) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001881792] Chr10:71819073 [GRCh38]
Chr10:73578830 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.830T>G (p.Met277Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001971877] Chr10:71821955 [GRCh38]
Chr10:73581712 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.375+1G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001975717] Chr10:71831125 [GRCh38]
Chr10:73590882 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1204C>A (p.Gln402Lys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002030256] Chr10:71819611 [GRCh38]
Chr10:73579368 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.875T>G (p.Val292Gly) single nucleotide variant Combined PSAP deficiency [RCV002291509]|Parkinson disease 24, autosomal dominant, susceptibility to [RCV003339831]|Sphingolipid activator protein 1 deficiency [RCV001921495] Chr10:71821910 [GRCh38]
Chr10:73581667 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.910-6C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001878199] Chr10:71820341 [GRCh38]
Chr10:73580098 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1252T>C (p.Tyr418His) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001915915] Chr10:71819563 [GRCh38]
Chr10:73579320 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.83del (p.Gly28fs) deletion Sphingolipid activator protein 1 deficiency [RCV001897524] Chr10:71834463 [GRCh38]
Chr10:73594220 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.397T>C (p.Ser133Pro) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001930738] Chr10:71829056 [GRCh38]
Chr10:73588813 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.763A>G (p.Met255Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001935677] Chr10:71825851 [GRCh38]
Chr10:73585608 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.456G>C (p.Lys152Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001921641] Chr10:71828997 [GRCh38]
Chr10:73588754 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.407A>G (p.Asn136Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001901411] Chr10:71829046 [GRCh38]
Chr10:73588803 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.166C>T (p.Pro56Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001906869] Chr10:71834380 [GRCh38]
Chr10:73594137 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.52C>G (p.Pro18Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001960333] Chr10:71834494 [GRCh38]
Chr10:73594251 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1219G>A (p.Gly407Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001899294] Chr10:71819596 [GRCh38]
Chr10:73579353 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.299_315del (p.Pro100fs) deletion Sphingolipid activator protein 1 deficiency [RCV001917936] Chr10:71831186..71831202 [GRCh38]
Chr10:73590943..73590959 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1040C>T (p.Ser347Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001937934] Chr10:71819866 [GRCh38]
Chr10:73579623 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_73574689)_(73610978_?)del deletion not provided [RCV002011875] Chr10:73574689..73610978 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.743A>G (p.Tyr248Cys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002028420] Chr10:71825871 [GRCh38]
Chr10:73585628 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.932C>G (p.Ser311Cys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001997736] Chr10:71820313 [GRCh38]
Chr10:73580070 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1097G>C (p.Ser366Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002047374] Chr10:71819809 [GRCh38]
Chr10:73579566 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1074G>C (p.Gln358His) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002013677] Chr10:71819832 [GRCh38]
Chr10:73579589 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.136_138inv (p.Lys46Leu) inversion Sphingolipid activator protein 1 deficiency [RCV001989315] Chr10:71834408..71834410 [GRCh38]
Chr10:73594165..73594167 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1175G>A (p.Arg392Gln) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001955244] Chr10:71819731 [GRCh38]
Chr10:73579488 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_73610929)_(73610988_?)del deletion Sphingolipid activator protein 1 deficiency [RCV001925537] Chr10:73610929..73610988 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1282A>G (p.Thr428Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001901448] Chr10:71819533 [GRCh38]
Chr10:73579290 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.940T>C (p.Tyr314His) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001997891] Chr10:71820305 [GRCh38]
Chr10:73580062 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.629C>A (p.Thr210Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001939979] Chr10:71828105 [GRCh38]
Chr10:73587862 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1309G>A (p.Glu437Lys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001961035] Chr10:71819506 [GRCh38]
Chr10:73579263 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1106T>C (p.Leu369Pro) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001867068] Chr10:71819800 [GRCh38]
Chr10:73579557 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001950813] Chr10:71819611 [GRCh38]
Chr10:73579368 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.777+1915C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001978632] Chr10:71823922 [GRCh38]
Chr10:73583679 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.507C>T (p.Ala169=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001989235] Chr10:71828946 [GRCh38]
Chr10:73588703 [GRCh37]
Chr10:10q22.1
likely benign
NC_000010.10:g.(?_73490206)_(73768229_?)dup duplication not provided [RCV001955739] Chr10:73490206..73768229 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.670G>T (p.Glu224Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001934357] Chr10:71828064 [GRCh38]
Chr10:73587821 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.791T>A (p.Ile264Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001934358] Chr10:71821994 [GRCh38]
Chr10:73581751 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1073A>T (p.Gln358Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001876625] Chr10:71819833 [GRCh38]
Chr10:73579590 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.721-1G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001973402] Chr10:71825894 [GRCh38]
Chr10:73585651 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.429G>A (p.Lys143=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002164986] Chr10:71829024 [GRCh38]
Chr10:73588781 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.720+15C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002105829] Chr10:71827999 [GRCh38]
Chr10:73587756 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-12C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002092424] Chr10:71817488 [GRCh38]
Chr10:73577245 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1351-10T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002187015] Chr10:71819121 [GRCh38]
Chr10:73578878 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-14G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002106702] Chr10:71819636 [GRCh38]
Chr10:73579393 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+11C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002091511] Chr10:71825826 [GRCh38]
Chr10:73585583 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1297C>T (p.Leu433=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002188461] Chr10:71819518 [GRCh38]
Chr10:73579275 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.697C>T (p.Leu233=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002108552] Chr10:71828037 [GRCh38]
Chr10:73587794 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.84C>T (p.Gly28=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002084691] Chr10:71834462 [GRCh38]
Chr10:73594219 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.786G>A (p.Lys262=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002206504] Chr10:71821999 [GRCh38]
Chr10:73581756 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1500C>T (p.Ser500=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002088247] Chr10:71818656 [GRCh38]
Chr10:73578413 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.720+7C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002144761] Chr10:71828007 [GRCh38]
Chr10:73587764 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.132A>G (p.Ala44=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002189791] Chr10:71834414 [GRCh38]
Chr10:73594171 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.315A>G (p.Ser105=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002092097] Chr10:71831186 [GRCh38]
Chr10:73590943 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-20G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002085751] Chr10:71819920 [GRCh38]
Chr10:73579677 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.381T>C (p.Arg127=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002085407] Chr10:71829072 [GRCh38]
Chr10:73588829 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+9C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002085603] Chr10:71819456 [GRCh38]
Chr10:73579213 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1539+20G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002097724] Chr10:71818597 [GRCh38]
Chr10:73578354 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-7C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002174781] Chr10:71831927 [GRCh38]
Chr10:73591684 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.910-13A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002185177] Chr10:71820348 [GRCh38]
Chr10:73580105 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.489C>T (p.Asp163=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002092808] Chr10:71828964 [GRCh38]
Chr10:73588721 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.609G>A (p.Gln203=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002131146] Chr10:71828125 [GRCh38]
Chr10:73587882 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1089G>A (p.Thr363=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002116774] Chr10:71819817 [GRCh38]
Chr10:73579574 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.712G>A (p.Ala238Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV001945056] Chr10:71828022 [GRCh38]
Chr10:73587779 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.303C>T (p.Asn101=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002097349] Chr10:71831198 [GRCh38]
Chr10:73590955 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.57C>A (p.Val19=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002081037] Chr10:71834489 [GRCh38]
Chr10:73594246 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.778-8C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002104850] Chr10:71822015 [GRCh38]
Chr10:73581772 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-11C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002096505] Chr10:71819633 [GRCh38]
Chr10:73579390 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+9C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002130262] Chr10:71825828 [GRCh38]
Chr10:73585585 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.963G>A (p.Leu321=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002194597] Chr10:71820282 [GRCh38]
Chr10:73580039 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.12C>G (p.Leu4=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002196475] Chr10:71851210 [GRCh38]
Chr10:73610967 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.126C>T (p.Cys42=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002078976] Chr10:71834420 [GRCh38]
Chr10:73594177 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-17G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002134856] Chr10:71834522 [GRCh38]
Chr10:73594279 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.192C>T (p.Asp64=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002081092] Chr10:71831903 [GRCh38]
Chr10:73591660 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.732T>C (p.Tyr244=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002094408] Chr10:71825882 [GRCh38]
Chr10:73585639 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.930G>A (p.Lys310=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002197397] Chr10:71820315 [GRCh38]
Chr10:73580072 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+15G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002094821] Chr10:71819450 [GRCh38]
Chr10:73579207 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.114G>A (p.Thr38=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002133069] Chr10:71834432 [GRCh38]
Chr10:73594189 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.375+13G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002072784] Chr10:71831113 [GRCh38]
Chr10:73590870 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.910-8T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002086834] Chr10:71820343 [GRCh38]
Chr10:73580100 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-12C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002191463] Chr10:71819634 [GRCh38]
Chr10:73579391 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.651C>G (p.Thr217=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002211829] Chr10:71828083 [GRCh38]
Chr10:73587840 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.576+11G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002111237] Chr10:71828866 [GRCh38]
Chr10:73588623 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.663C>G (p.Ala221=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002173671] Chr10:71828071 [GRCh38]
Chr10:73587828 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.462G>A (p.Leu154=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002196684] Chr10:71828991 [GRCh38]
Chr10:73588748 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.207T>C (p.Val69=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002114704] Chr10:71831888 [GRCh38]
Chr10:73591645 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+11G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002134441] Chr10:71831835 [GRCh38]
Chr10:73591592 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1377G>A (p.Glu459=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002186841] Chr10:71819085 [GRCh38]
Chr10:73578842 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.828G>A (p.Glu276=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002096283] Chr10:71821957 [GRCh38]
Chr10:73581714 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.721-13T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002193912]|not provided [RCV003481262] Chr10:71825906 [GRCh38]
Chr10:73585663 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_002778.4(PSAP):c.778-6C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002215641] Chr10:71822013 [GRCh38]
Chr10:73581770 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+12G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002211815] Chr10:71825825 [GRCh38]
Chr10:73585582 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.376-4C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002172069] Chr10:71829081 [GRCh38]
Chr10:73588838 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1395C>A (p.Ile465=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002079807] Chr10:71819067 [GRCh38]
Chr10:73578824 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1548G>A (p.Glu516=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002075913] Chr10:71817468 [GRCh38]
Chr10:73577225 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.561C>T (p.Ser187=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002118982] Chr10:71828892 [GRCh38]
Chr10:73588649 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.537C>G (p.Leu179=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002153937] Chr10:71828916 [GRCh38]
Chr10:73588673 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.951G>A (p.Val317=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002159648] Chr10:71820294 [GRCh38]
Chr10:73580051 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.577-14T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002218349] Chr10:71828171 [GRCh38]
Chr10:73587928 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.376-15T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002156168] Chr10:71829092 [GRCh38]
Chr10:73588849 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1089G>C (p.Thr363=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002139516] Chr10:71819817 [GRCh38]
Chr10:73579574 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.90A>C (p.Ala30=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002081950] Chr10:71834456 [GRCh38]
Chr10:73594213 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1029C>T (p.Asp343=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002118214] Chr10:71819877 [GRCh38]
Chr10:73579634 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-18C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002204245] Chr10:71819640 [GRCh38]
Chr10:73579397 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.12C>T (p.Leu4=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002176320] Chr10:71851210 [GRCh38]
Chr10:73610967 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.498G>A (p.Glu166=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002202465] Chr10:71828955 [GRCh38]
Chr10:73588712 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-10C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002218674] Chr10:71817486 [GRCh38]
Chr10:73577243 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.376-8C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002163455] Chr10:71829085 [GRCh38]
Chr10:73588842 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.879C>T (p.Ile293=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002143313] Chr10:71821906 [GRCh38]
Chr10:73581663 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.376-5A>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002158550] Chr10:71829082 [GRCh38]
Chr10:73588839 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1117C>T (p.Leu373=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002136660] Chr10:71819789 [GRCh38]
Chr10:73579546 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-19C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002182358] Chr10:71831939 [GRCh38]
Chr10:73591696 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+15G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002120841] Chr10:71831831 [GRCh38]
Chr10:73591588 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-13TC[2] microsatellite Sphingolipid activator protein 1 deficiency [RCV002122742] Chr10:71817484..71817485 [GRCh38]
Chr10:73577241..73577242 [GRCh37]
Chr10:10q22.1
benign
NM_002778.4(PSAP):c.19C>T (p.Leu7=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002218032] Chr10:71851203 [GRCh38]
Chr10:73610960 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.618T>A (p.Thr206=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002082949] Chr10:71828116 [GRCh38]
Chr10:73587873 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+16G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002099758] Chr10:71819449 [GRCh38]
Chr10:73579206 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+8G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002184614] Chr10:71831838 [GRCh38]
Chr10:73591595 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.376-6C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002161409] Chr10:71829083 [GRCh38]
Chr10:73588840 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.147G>A (p.Leu49=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002142839] Chr10:71834399 [GRCh38]
Chr10:73594156 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1041G>A (p.Ser347=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002180054] Chr10:71819865 [GRCh38]
Chr10:73579622 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+18C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002203211] Chr10:71825819 [GRCh38]
Chr10:73585576 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.867C>G (p.Ser289=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002218655] Chr10:71821918 [GRCh38]
Chr10:73581675 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.402T>A (p.Ala134=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002157970] Chr10:71829051 [GRCh38]
Chr10:73588808 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.886C>T (p.Leu296=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002183574] Chr10:71821899 [GRCh38]
Chr10:73581656 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-11G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002100361] Chr10:71819911 [GRCh38]
Chr10:73579668 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.300G>T (p.Pro100=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002184093] Chr10:71831201 [GRCh38]
Chr10:73590958 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.460C>T (p.Leu154=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002160888] Chr10:71828993 [GRCh38]
Chr10:73588750 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-4G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002161061] Chr10:71831255 [GRCh38]
Chr10:73591012 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.351C>T (p.Ile117=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002122472] Chr10:71831150 [GRCh38]
Chr10:73590907 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.849C>A (p.Val283=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002199249] Chr10:71821936 [GRCh38]
Chr10:73581693 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1077G>A (p.Glu359=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002180620] Chr10:71819829 [GRCh38]
Chr10:73579586 [GRCh37]
Chr10:10q22.1
likely benign
NC_000010.10:g.(?_73578585)_(73581640_?)del deletion Sphingolipid activator protein 1 deficiency [RCV003113122] Chr10:73578585..73581640 [GRCh37]
Chr10:10q22.1
pathogenic
NC_000010.10:g.(?_73499381)_(73862745_?)dup duplication Sphingolipid activator protein 1 deficiency [RCV003113123] Chr10:73499381..73862745 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.910-18C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003116950] Chr10:71820353 [GRCh38]
Chr10:73580110 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.723C>T (p.Cys241=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003115429] Chr10:71825891 [GRCh38]
Chr10:73585648 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+7G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003116211] Chr10:71831839 [GRCh38]
Chr10:73591596 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1161C>T (p.Leu387=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003118156] Chr10:71819745 [GRCh38]
Chr10:73579502 [GRCh37]
Chr10:10q22.1
likely benign
NC_000010.10:g.(?_73464648)_(73768229_?)dup duplication not provided [RCV003111464] Chr10:73464648..73768229 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.249+13G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003115018] Chr10:71831833 [GRCh38]
Chr10:73591590 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.439G>A (p.Glu147Lys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003112256] Chr10:71829014 [GRCh38]
Chr10:73588771 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1195C>T (p.His399Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003118909] Chr10:71819620 [GRCh38]
Chr10:73579377 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1350+4C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003095910]|not provided [RCV002261907] Chr10:71819461 [GRCh38]
Chr10:73579218 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002291315] Chr10:71825893 [GRCh38]
Chr10:73585650 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.910-183G>T single nucleotide variant not provided [RCV002285804] Chr10:71820518 [GRCh38]
Chr10:73580275 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1064A>C (p.Glu355Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002967719] Chr10:71819842 [GRCh38]
Chr10:73579599 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.205G>A (p.Val69Ile) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002771109] Chr10:71831890 [GRCh38]
Chr10:73591647 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1546G>A (p.Glu516Lys) single nucleotide variant not provided [RCV002308773] Chr10:71817470 [GRCh38]
Chr10:73577227 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.779A>G (p.Gln260Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002301527] Chr10:71822006 [GRCh38]
Chr10:73581763 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.661G>T (p.Ala221Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002303080] Chr10:71828073 [GRCh38]
Chr10:73587830 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.49G>A (p.Gly17Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002775702] Chr10:71834497 [GRCh38]
Chr10:73594254 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1350G>A (p.Gln450=) single nucleotide variant Inborn genetic diseases [RCV002840428] Chr10:71819465 [GRCh38]
Chr10:73579222 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1119G>A (p.Leu373=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003014824] Chr10:71819787 [GRCh38]
Chr10:73579544 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1245G>T (p.Leu415=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002972213] Chr10:71819570 [GRCh38]
Chr10:73579327 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.457C>T (p.Gln153Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002880738] Chr10:71828996 [GRCh38]
Chr10:73588753 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1006-14C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002861560] Chr10:71819914 [GRCh38]
Chr10:73579671 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1110C>T (p.Ser370=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002726839] Chr10:71819796 [GRCh38]
Chr10:73579553 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.577-3T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003075426] Chr10:71828160 [GRCh38]
Chr10:73587917 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1509C>T (p.Cys503=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002819886] Chr10:71818647 [GRCh38]
Chr10:73578404 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1191C>T (p.Thr397=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003077064] Chr10:71819715 [GRCh38]
Chr10:73579472 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.961C>T (p.Leu321=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002618827] Chr10:71820284 [GRCh38]
Chr10:73580041 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1336C>G (p.Pro446Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003076373] Chr10:71819479 [GRCh38]
Chr10:73579236 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1149C>T (p.Ser383=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002756617] Chr10:71819757 [GRCh38]
Chr10:73579514 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1035G>A (p.Met345Ile) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002909106] Chr10:71819871 [GRCh38]
Chr10:73579628 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter) indel Sphingolipid activator protein 1 deficiency [RCV003013783] Chr10:71825891..71825892 [GRCh38]
Chr10:73585648..73585649 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.852C>A (p.Pro284=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002903638] Chr10:71821933 [GRCh38]
Chr10:73581690 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.174+17T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002731015] Chr10:71834355 [GRCh38]
Chr10:73594112 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.729C>T (p.Asn243=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002816260] Chr10:71825885 [GRCh38]
Chr10:73585642 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.586G>A (p.Asp196Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003074044] Chr10:71828148 [GRCh38]
Chr10:73587905 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.138G>T (p.Lys46Asn) single nucleotide variant Inborn genetic diseases [RCV002841257] Chr10:71834408 [GRCh38]
Chr10:73594165 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1113C>T (p.Ile371=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002881004] Chr10:71819793 [GRCh38]
Chr10:73579550 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.697C>G (p.Leu233Val) single nucleotide variant Inborn genetic diseases [RCV003161731]|PSAP-related condition [RCV003404065]|Sphingolipid activator protein 1 deficiency [RCV003075665] Chr10:71828037 [GRCh38]
Chr10:73587794 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.777+16G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002771147] Chr10:71825821 [GRCh38]
Chr10:73585578 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.755C>G (p.Ala252Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002750497] Chr10:71825859 [GRCh38]
Chr10:73585616 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.375+20C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002756029] Chr10:71831106 [GRCh38]
Chr10:73590863 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-18C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002971541] Chr10:71834523 [GRCh38]
Chr10:73594280 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-16G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002681258] Chr10:71831936 [GRCh38]
Chr10:73591693 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.325A>T (p.Ile109Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003076115] Chr10:71831176 [GRCh38]
Chr10:73590933 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.250-4G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002858329] Chr10:71831255 [GRCh38]
Chr10:73591012 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1340dup (p.Tyr447Ter) duplication Sphingolipid activator protein 1 deficiency [RCV002825544] Chr10:71819474..71819475 [GRCh38]
Chr10:73579231..73579232 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.332A>C (p.Asp111Ala) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002639570] Chr10:71831169 [GRCh38]
Chr10:73590926 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.909+17T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002592862] Chr10:71821859 [GRCh38]
Chr10:73581616 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002928022] Chr10:71818637 [GRCh38]
Chr10:73578394 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.86C>T (p.Ser29Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003077142] Chr10:71834460 [GRCh38]
Chr10:73594217 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.175-6T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002871134] Chr10:71831926 [GRCh38]
Chr10:73591683 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1431+18G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003039319] Chr10:71819013 [GRCh38]
Chr10:73578770 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1514A>G (p.Asn505Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002640213] Chr10:71818642 [GRCh38]
Chr10:73578399 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.250-15G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002871275] Chr10:71831266 [GRCh38]
Chr10:73591023 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.576+13G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002621983] Chr10:71828864 [GRCh38]
Chr10:73588621 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1389C>A (p.Ile463=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002979490] Chr10:71819073 [GRCh38]
Chr10:73578830 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.48C>A (p.Ala16=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002824038] Chr10:71834498 [GRCh38]
Chr10:73594255 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.293C>T (p.Pro98Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002998801] Chr10:71831208 [GRCh38]
Chr10:73590965 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1193-17G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003078226] Chr10:71819639 [GRCh38]
Chr10:73579396 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1005+1G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002867700] Chr10:71820239 [GRCh38]
Chr10:73579996 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1155G>A (p.Leu385=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003035601] Chr10:71819751 [GRCh38]
Chr10:73579508 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.282T>C (p.Cys94=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003054003] Chr10:71831219 [GRCh38]
Chr10:73590976 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.723_726del (p.Ile240_Cys241insTer) deletion Sphingolipid activator protein 1 deficiency [RCV003053867] Chr10:71825888..71825891 [GRCh38]
Chr10:73585645..73585648 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1540-20A>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002923744] Chr10:71817496 [GRCh38]
Chr10:73577253 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.87G>A (p.Ser29=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002592938] Chr10:71834459 [GRCh38]
Chr10:73594216 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.348C>G (p.Val116=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002796381] Chr10:71831153 [GRCh38]
Chr10:73590910 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1342C>G (p.Gln448Glu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002927029] Chr10:71819473 [GRCh38]
Chr10:73579230 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1398G>C (p.Leu466=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002846311] Chr10:71819064 [GRCh38]
Chr10:73578821 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.777+10A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003037730] Chr10:71825827 [GRCh38]
Chr10:73585584 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.133G>T (p.Val45Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002885785] Chr10:71834413 [GRCh38]
Chr10:73594170 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.567C>G (p.Pro189=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002866838] Chr10:71828886 [GRCh38]
Chr10:73588643 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.7G>A (p.Ala3Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002976401] Chr10:71851215 [GRCh38]
Chr10:73610972 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.910-18_910-15del deletion Sphingolipid activator protein 1 deficiency [RCV002592133] Chr10:71820350..71820353 [GRCh38]
Chr10:73580107..73580110 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1050G>C (p.Pro350=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002570118] Chr10:71819856 [GRCh38]
Chr10:73579613 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.69A>G (p.Lys23=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002620596] Chr10:71834477 [GRCh38]
Chr10:73594234 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1432-20T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002638452] Chr10:71818744 [GRCh38]
Chr10:73578501 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.718A>G (p.Ile240Val) single nucleotide variant Inborn genetic diseases [RCV002638456]|Sphingolipid activator protein 1 deficiency [RCV002654854]|not provided [RCV003229936] Chr10:71828016 [GRCh38]
Chr10:73587773 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1351-9C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003054068] Chr10:71819120 [GRCh38]
Chr10:73578877 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.251A>T (p.Glu84Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003038772] Chr10:71831250 [GRCh38]
Chr10:73591007 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1050dup (p.Lys351fs) duplication Sphingolipid activator protein 1 deficiency [RCV002795722] Chr10:71819855..71819856 [GRCh38]
Chr10:73579612..73579613 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1033A>G (p.Met345Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002592118] Chr10:71819873 [GRCh38]
Chr10:73579630 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1422C>G (p.Phe474Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003080627] Chr10:71819040 [GRCh38]
Chr10:73578797 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1562A>G (p.His521Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002796677] Chr10:71817454 [GRCh38]
Chr10:73577211 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.721-5_721-3del microsatellite Sphingolipid activator protein 1 deficiency [RCV002701447] Chr10:71825896..71825898 [GRCh38]
Chr10:73585653..73585655 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.909+8dup duplication Sphingolipid activator protein 1 deficiency [RCV002872571] Chr10:71821867..71821868 [GRCh38]
Chr10:73581624..73581625 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.114G>C (p.Thr38=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002645629] Chr10:71834432 [GRCh38]
Chr10:73594189 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.174+15C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002597223] Chr10:71834357 [GRCh38]
Chr10:73594114 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-10T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002801416] Chr10:71831930 [GRCh38]
Chr10:73591687 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.935A>G (p.Asp312Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002624898] Chr10:71820310 [GRCh38]
Chr10:73580067 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1540-4C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002666722] Chr10:71817480 [GRCh38]
Chr10:73577237 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.778-10C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002852489] Chr10:71822017 [GRCh38]
Chr10:73581774 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.119C>A (p.Ser40Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002957422] Chr10:71834427 [GRCh38]
Chr10:73594184 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1169G>T (p.Gly390Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002700333] Chr10:71819737 [GRCh38]
Chr10:73579494 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.194T>G (p.Ile65Arg) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002982441] Chr10:71831901 [GRCh38]
Chr10:73591658 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.694C>T (p.Arg232Cys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003058400] Chr10:71828040 [GRCh38]
Chr10:73587797 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1351-9C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002829758] Chr10:71819120 [GRCh38]
Chr10:73578877 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1185A>C (p.Ala395=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002828705] Chr10:71819721 [GRCh38]
Chr10:73579478 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1192+20C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003082810] Chr10:71819694 [GRCh38]
Chr10:73579451 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.210C>T (p.Val70=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002801077] Chr10:71831885 [GRCh38]
Chr10:73591642 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1404G>C (p.Glu468Asp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002642600] Chr10:71819058 [GRCh38]
Chr10:73578815 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.524T>C (p.Ile175Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002624859] Chr10:71828929 [GRCh38]
Chr10:73588686 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1559G>A (p.Arg520His) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002914527] Chr10:71817457 [GRCh38]
Chr10:73577214 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.86C>G (p.Ser29Trp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002786444] Chr10:71834460 [GRCh38]
Chr10:73594217 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.145C>T (p.Leu49=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003040715] Chr10:71834401 [GRCh38]
Chr10:73594158 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1375G>A (p.Glu459Lys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003085278] Chr10:71819087 [GRCh38]
Chr10:73578844 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.666G>A (p.Leu222=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002853076] Chr10:71828068 [GRCh38]
Chr10:73587825 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.769A>T (p.Met257Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002932703] Chr10:71825845 [GRCh38]
Chr10:73585602 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.196T>G (p.Cys66Gly) single nucleotide variant Inborn genetic diseases [RCV002825954] Chr10:71831899 [GRCh38]
Chr10:73591656 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.990CAA[2] (p.Asn332del) microsatellite Sphingolipid activator protein 1 deficiency [RCV003056636] Chr10:71820247..71820249 [GRCh38]
Chr10:73580004..73580006 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.121G>A (p.Asp41Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002663994] Chr10:71834425 [GRCh38]
Chr10:73594182 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.699G>A (p.Leu233=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002711460] Chr10:71828035 [GRCh38]
Chr10:73587792 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.475A>T (p.Ile159Phe) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002625906] Chr10:71828978 [GRCh38]
Chr10:73588735 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.527dup (p.Leu177fs) duplication Sphingolipid activator protein 1 deficiency [RCV002801121] Chr10:71828925..71828926 [GRCh38]
Chr10:73588682..73588683 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.859G>T (p.Val287Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002917884] Chr10:71821926 [GRCh38]
Chr10:73581683 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1487T>C (p.Ile496Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002650851] Chr10:71818669 [GRCh38]
Chr10:73578426 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1266C>G (p.Asn422Lys) single nucleotide variant Inborn genetic diseases [RCV002922911]|Sphingolipid activator protein 1 deficiency [RCV002922910] Chr10:71819549 [GRCh38]
Chr10:73579306 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1174C>T (p.Arg392Trp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002938220] Chr10:71819732 [GRCh38]
Chr10:73579489 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.777+19C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003065802] Chr10:71825818 [GRCh38]
Chr10:73585575 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-17C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003091627] Chr10:71831937 [GRCh38]
Chr10:73591694 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.227T>C (p.Met76Thr) single nucleotide variant Inborn genetic diseases [RCV003294599]|Sphingolipid activator protein 1 deficiency [RCV002629901] Chr10:71831868 [GRCh38]
Chr10:73591625 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.154G>A (p.Val52Ile) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003061406] Chr10:71834392 [GRCh38]
Chr10:73594149 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.550G>A (p.Gly184Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002648093] Chr10:71828903 [GRCh38]
Chr10:73588660 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.775A>G (p.Met259Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002600538] Chr10:71825839 [GRCh38]
Chr10:73585596 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.174+16C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002627812] Chr10:71834356 [GRCh38]
Chr10:73594113 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1316G>T (p.Gly439Val) single nucleotide variant Inborn genetic diseases [RCV002832599] Chr10:71819499 [GRCh38]
Chr10:73579256 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.100del (p.Gln34fs) deletion Sphingolipid activator protein 1 deficiency [RCV003043994] Chr10:71834446 [GRCh38]
Chr10:73594203 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1057C>G (p.Leu353Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002600064] Chr10:71819849 [GRCh38]
Chr10:73579606 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.721-8C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002600062] Chr10:71825901 [GRCh38]
Chr10:73585658 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.5A>G (p.Tyr2Cys) single nucleotide variant Inborn genetic diseases [RCV003064905]|Sphingolipid activator protein 1 deficiency [RCV003064906] Chr10:71851217 [GRCh38]
Chr10:73610974 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.325A>G (p.Ile109Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002601889] Chr10:71831176 [GRCh38]
Chr10:73590933 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.720+7C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003030630] Chr10:71828007 [GRCh38]
Chr10:73587764 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1201A>C (p.Thr401Pro) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002598979] Chr10:71819614 [GRCh38]
Chr10:73579371 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1524A>G (p.Thr508=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003090157] Chr10:71818632 [GRCh38]
Chr10:73578389 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1192+11G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003048444] Chr10:71819703 [GRCh38]
Chr10:73579460 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.538T>C (p.Tyr180His) single nucleotide variant Inborn genetic diseases [RCV002717790] Chr10:71828915 [GRCh38]
Chr10:73588672 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1192+6C>T single nucleotide variant Inborn genetic diseases [RCV002939057]|Sphingolipid activator protein 1 deficiency [RCV002942770] Chr10:71819708 [GRCh38]
Chr10:73579465 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.375+9T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002895892] Chr10:71831117 [GRCh38]
Chr10:73590874 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.692A>G (p.Asp231Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003060725] Chr10:71828042 [GRCh38]
Chr10:73587799 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1432-19T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003064763] Chr10:71818743 [GRCh38]
Chr10:73578500 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.789G>T (p.Glu263Asp) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003087308] Chr10:71821996 [GRCh38]
Chr10:73581753 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.576+9A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003010069] Chr10:71828868 [GRCh38]
Chr10:73588625 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1065A>G (p.Glu355=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002834893] Chr10:71819841 [GRCh38]
Chr10:73579598 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.778-9T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003029701] Chr10:71822016 [GRCh38]
Chr10:73581773 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.375+16T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002810916] Chr10:71831110 [GRCh38]
Chr10:73590867 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1558C>T (p.Arg520Cys) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003090950] Chr10:71817458 [GRCh38]
Chr10:73577215 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.376-10A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002806967] Chr10:71829087 [GRCh38]
Chr10:73588844 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.555_556dup (p.Arg186fs) duplication Sphingolipid activator protein 1 deficiency [RCV002833405] Chr10:71828896..71828897 [GRCh38]
Chr10:73588653..73588654 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.411C>T (p.Leu137=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002672197] Chr10:71829042 [GRCh38]
Chr10:73588799 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.12C>A (p.Leu4=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002899409] Chr10:71851210 [GRCh38]
Chr10:73610967 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1198G>A (p.Val400Met) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003091135] Chr10:71819617 [GRCh38]
Chr10:73579374 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.715G>A (p.Asp239Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003066563] Chr10:71828019 [GRCh38]
Chr10:73587776 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.326T>C (p.Ile109Thr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003068200] Chr10:71831175 [GRCh38]
Chr10:73590932 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1415C>T (p.Pro472Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003070207] Chr10:71819047 [GRCh38]
Chr10:73578804 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1320C>T (p.Cys440=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002588951] Chr10:71819495 [GRCh38]
Chr10:73579252 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.429G>C (p.Lys143Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003066433] Chr10:71829024 [GRCh38]
Chr10:73588781 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1539+6T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002606723] Chr10:71818611 [GRCh38]
Chr10:73578368 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1328T>C (p.Leu443Pro) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002721376] Chr10:71819487 [GRCh38]
Chr10:73579244 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1093G>A (p.Gly365Ser) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003073344] Chr10:71819813 [GRCh38]
Chr10:73579570 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.802G>A (p.Val268Ile) single nucleotide variant Inborn genetic diseases [RCV003092206]|Sphingolipid activator protein 1 deficiency [RCV003092207] Chr10:71821983 [GRCh38]
Chr10:73581740 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.847G>C (p.Val283Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002585501] Chr10:71821938 [GRCh38]
Chr10:73581695 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.89C>T (p.Ala30Val) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003069980] Chr10:71834457 [GRCh38]
Chr10:73594214 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.139C>T (p.His47Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002613026] Chr10:71834407 [GRCh38]
Chr10:73594164 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.720A>G (p.Ile240Met) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003071816] Chr10:71828014 [GRCh38]
Chr10:73587771 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1287G>C (p.Lys429Asn) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002814740] Chr10:71819528 [GRCh38]
Chr10:73579285 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.721-11T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003051477] Chr10:71825904 [GRCh38]
Chr10:73585661 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1067A>G (p.Glu356Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002608001] Chr10:71819839 [GRCh38]
Chr10:73579596 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.53C>T (p.Pro18Leu) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003072262] Chr10:71834493 [GRCh38]
Chr10:73594250 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1035G>T (p.Met345Ile) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV002612164] Chr10:71819871 [GRCh38]
Chr10:73579628 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003154637] Chr10:71828141 [GRCh38]
Chr10:73587898 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.688T>G (p.Cys230Gly) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003154638] Chr10:71828046 [GRCh38]
Chr10:73587803 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.777_778insTGT (p.Met259_Gln260insCys) insertion not provided [RCV003135154] Chr10:71825836..71825837 [GRCh38]
Chr10:73585593..73585594 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_002778.4(PSAP):c.1192+1G>A single nucleotide variant Combined PSAP deficiency [RCV003333380] Chr10:71819713 [GRCh38]
Chr10:73579470 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1105C>T (p.Leu369=) single nucleotide variant not provided [RCV003456707] Chr10:71819801 [GRCh38]
Chr10:73579558 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1341C>A (p.Tyr447Ter) single nucleotide variant Combined PSAP deficiency [RCV003484982] Chr10:71819474 [GRCh38]
Chr10:73579231 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.829A>T (p.Met277Leu) single nucleotide variant PSAP-related condition [RCV003408583] Chr10:71821956 [GRCh38]
Chr10:73581713 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 copy number loss not provided [RCV003483098] Chr10:73321269..74612651 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q22.1(chr10:73592342-73811715)x3 copy number gain not provided [RCV003484803] Chr10:73592342..73811715 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_002778.4(PSAP):c.1467G>T (p.Leu489Phe) single nucleotide variant not specified [RCV003479796] Chr10:71818689 [GRCh38]
Chr10:73578446 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.1540-8_1540-7del deletion Sphingolipid activator protein 1 deficiency [RCV003626324] Chr10:71817483..71817484 [GRCh38]
Chr10:73577240..73577241 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-1G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627972] Chr10:71819623 [GRCh38]
Chr10:73579380 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.41-17G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627006] Chr10:71834522 [GRCh38]
Chr10:73594279 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1005+19A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627260] Chr10:71820221 [GRCh38]
Chr10:73579978 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.174+20A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003878468] Chr10:71834352 [GRCh38]
Chr10:73594109 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.825A>G (p.Lys275=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626111] Chr10:71821960 [GRCh38]
Chr10:73581717 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.40+8C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626130] Chr10:71851174 [GRCh38]
Chr10:73610931 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-9G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627788] Chr10:71819909 [GRCh38]
Chr10:73579666 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-1G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626263] Chr10:71831252 [GRCh38]
Chr10:73591009 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.1006-11G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627857] Chr10:71819911 [GRCh38]
Chr10:73579668 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.270G>A (p.Leu90=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626271] Chr10:71831231 [GRCh38]
Chr10:73590988 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-15T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627180] Chr10:71819637 [GRCh38]
Chr10:73579394 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.390G>A (p.Glu130=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627984] Chr10:71829063 [GRCh38]
Chr10:73588820 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-11C>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627906] Chr10:71831931 [GRCh38]
Chr10:73591688 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-19G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627903] Chr10:71817495 [GRCh38]
Chr10:73577252 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.174+17T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627275] Chr10:71834355 [GRCh38]
Chr10:73594112 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1192+14G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626429] Chr10:71819700 [GRCh38]
Chr10:73579457 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-18C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627298] Chr10:71834523 [GRCh38]
Chr10:73594280 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.249+19G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626455] Chr10:71831827 [GRCh38]
Chr10:73591584 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-16T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628149] Chr10:71831267 [GRCh38]
Chr10:73591024 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.40+19A>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628181] Chr10:71851163 [GRCh38]
Chr10:73610920 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-11G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628191] Chr10:71819911 [GRCh38]
Chr10:73579668 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1192+12G>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626582] Chr10:71819702 [GRCh38]
Chr10:73579459 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-16G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627474] Chr10:71831936 [GRCh38]
Chr10:73591693 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1005+13C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628345] Chr10:71820227 [GRCh38]
Chr10:73579984 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1050G>T (p.Pro350=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628387] Chr10:71819856 [GRCh38]
Chr10:73579613 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1419del (p.Phe474fs) deletion Sphingolipid activator protein 1 deficiency [RCV003627684] Chr10:71819043 [GRCh38]
Chr10:73578800 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.353T>C (p.Leu118Pro) single nucleotide variant Combined PSAP deficiency [RCV003494603] Chr10:71831148 [GRCh38]
Chr10:73590905 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_002778.4(PSAP):c.607del (p.Gln203fs) deletion Sphingolipid activator protein 1 deficiency [RCV003628480] Chr10:71828127 [GRCh38]
Chr10:73587884 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1350+12G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628539] Chr10:71819453 [GRCh38]
Chr10:73579210 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1193-17G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627393] Chr10:71819639 [GRCh38]
Chr10:73579396 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1317C>T (p.Gly439=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003877900] Chr10:71819498 [GRCh38]
Chr10:73579255 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.333C>T (p.Asp111=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627469] Chr10:71831168 [GRCh38]
Chr10:73590925 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1267C>T (p.Leu423=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627499] Chr10:71819548 [GRCh38]
Chr10:73579305 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.577-11C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627480] Chr10:71828168 [GRCh38]
Chr10:73587925 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.910-13A>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627653] Chr10:71820348 [GRCh38]
Chr10:73580105 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1350+20G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626255] Chr10:71819445 [GRCh38]
Chr10:73579202 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.435A>G (p.Leu145=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626908] Chr10:71829018 [GRCh38]
Chr10:73588775 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1053G>A (p.Lys351=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627743] Chr10:71819853 [GRCh38]
Chr10:73579610 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.42T>C (p.Ala14=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626307] Chr10:71834504 [GRCh38]
Chr10:73594261 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-7C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626446] Chr10:71831258 [GRCh38]
Chr10:73591015 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.175-8T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627872] Chr10:71831928 [GRCh38]
Chr10:73591685 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.477C>T (p.Ile159=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627975] Chr10:71828976 [GRCh38]
Chr10:73588733 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.648C>T (p.Ser216=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627995] Chr10:71828086 [GRCh38]
Chr10:73587843 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.158G>A (p.Trp53Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628021] Chr10:71834388 [GRCh38]
Chr10:73594145 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.721-5C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628028] Chr10:71825898 [GRCh38]
Chr10:73585655 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.423C>A (p.Leu141=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626126] Chr10:71829030 [GRCh38]
Chr10:73588787 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.291T>C (p.Leu97=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626181] Chr10:71831210 [GRCh38]
Chr10:73590967 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.450C>T (p.His150=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627368] Chr10:71829003 [GRCh38]
Chr10:73588760 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.720+1G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627966] Chr10:71828013 [GRCh38]
Chr10:73587770 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_002778.4(PSAP):c.342C>G (p.Leu114=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628203] Chr10:71831159 [GRCh38]
Chr10:73590916 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-10C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627901] Chr10:71831261 [GRCh38]
Chr10:73591018 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.909+13A>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628244] Chr10:71821863 [GRCh38]
Chr10:73581620 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.720+16T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626912] Chr10:71827998 [GRCh38]
Chr10:73587755 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1432-6A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626977] Chr10:71818730 [GRCh38]
Chr10:73578487 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1236C>T (p.Cys412=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626479] Chr10:71819579 [GRCh38]
Chr10:73579336 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628471] Chr10:71819840 [GRCh38]
Chr10:73579597 [GRCh37]
Chr10:10q22.1
pathogenic
NM_002778.4(PSAP):c.1059G>C (p.Leu353=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627025] Chr10:71819847 [GRCh38]
Chr10:73579604 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-22_41-20del microsatellite Sphingolipid activator protein 1 deficiency [RCV003628211] Chr10:71834525..71834527 [GRCh38]
Chr10:73594282..73594284 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.721-19T>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627128] Chr10:71825912 [GRCh38]
Chr10:73585669 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-16T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627189] Chr10:71834521 [GRCh38]
Chr10:73594278 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.909+12C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627226] Chr10:71821864 [GRCh38]
Chr10:73581621 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.702C>T (p.Gly234=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627022] Chr10:71828032 [GRCh38]
Chr10:73587789 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-8C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628274] Chr10:71817484 [GRCh38]
Chr10:73577241 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1005+12T>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627309] Chr10:71820228 [GRCh38]
Chr10:73579985 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.792C>T (p.Ile264=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627388] Chr10:71821993 [GRCh38]
Chr10:73581750 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.504G>A (p.Val168=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628316] Chr10:71828949 [GRCh38]
Chr10:73588706 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1540-19G>C single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627178] Chr10:71817495 [GRCh38]
Chr10:73577252 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.153C>G (p.Thr51=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626129] Chr10:71834393 [GRCh38]
Chr10:73594150 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-18del deletion Sphingolipid activator protein 1 deficiency [RCV003626141] Chr10:71834523 [GRCh38]
Chr10:73594280 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.250-9C>T single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627575] Chr10:71831260 [GRCh38]
Chr10:73591017 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1006-16C>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627770] Chr10:71819916 [GRCh38]
Chr10:73579673 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1308T>G (p.Leu436=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003627785] Chr10:71819507 [GRCh38]
Chr10:73579264 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.1192+12G>A single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626347] Chr10:71819702 [GRCh38]
Chr10:73579459 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.721-20A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626464] Chr10:71825913 [GRCh38]
Chr10:73585670 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.41-19A>G single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003626140] Chr10:71834524 [GRCh38]
Chr10:73594281 [GRCh37]
Chr10:10q22.1
likely benign
NM_002778.4(PSAP):c.57C>T (p.Val19=) single nucleotide variant Sphingolipid activator protein 1 deficiency [RCV003628027] Chr10:71834489 [GRCh38]
Chr10:73594246 [GRCh37]
Chr10:10q22.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1663
Count of miRNA genes:719
Interacting mature miRNAs:812
Transcripts:ENST00000394934, ENST00000394936, ENST00000493143, ENST00000495196
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH11184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,385 - 73,576,595UniSTSGRCh37
Build 361073,246,391 - 73,246,601RGDNCBI36
Celera1066,858,955 - 66,859,165RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,570,152 - 67,570,362UniSTS
GeneMap99-GB4 RH Map10370.67UniSTS
NCBI RH Map10900.9UniSTS
RH121750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,579,728 - 73,580,025UniSTSGRCh37
Build 361073,249,734 - 73,250,031RGDNCBI36
Celera1066,862,297 - 66,862,594RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,573,494 - 67,573,791UniSTS
D10S1299E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,722 - 73,576,958UniSTSGRCh37
Build 361073,246,728 - 73,246,964RGDNCBI36
Celera1066,859,292 - 66,859,528RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,570,489 - 67,570,725UniSTS
D10S1301E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,581,659 - 73,581,741UniSTSGRCh37
Build 361073,251,665 - 73,251,747RGDNCBI36
Celera1066,864,229 - 66,864,311RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,575,426 - 67,575,508UniSTS
D10S1303E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,541 - 73,576,654UniSTSGRCh37
Build 361073,246,547 - 73,246,660RGDNCBI36
Celera1066,859,111 - 66,859,224RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,570,308 - 67,570,421UniSTS
STS-J03077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,183 - 73,576,325UniSTSGRCh37
Build 361073,246,189 - 73,246,331RGDNCBI36
Celera1066,858,753 - 66,858,895RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,569,950 - 67,570,092UniSTS
GeneMap99-GB4 RH Map10370.87UniSTS
RH41802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,103 - 73,576,301UniSTSGRCh37
Build 361073,246,109 - 73,246,307RGDNCBI36
Celera1066,858,673 - 66,858,871RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,569,870 - 67,570,068UniSTS
GeneMap99-GB4 RH Map10370.67UniSTS
NCBI RH Map10900.9UniSTS
D10S2162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,319 - 73,576,654UniSTSGRCh37
Build 361073,246,325 - 73,246,660RGDNCBI36
Celera1066,858,889 - 66,859,224RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,570,086 - 67,570,421UniSTS
RH68874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,576,163 - 73,576,270UniSTSGRCh37
Build 361073,246,169 - 73,246,276RGDNCBI36
Celera1066,858,733 - 66,858,840RGD
Cytogenetic Map10q21-q22UniSTS
HuRef1067,569,930 - 67,570,037UniSTS
GeneMap99-GB4 RH Map10370.67UniSTS
NCBI RH Map10900.9UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 187 1767 633 94 787 69 1818 229 1030 203 596 977 31 686 1264 3
Medium 2245 1217 1090 528 1161 395 2537 1964 2678 215 851 631 140 518 1524 1
Low 5 7 1 2 3 1 1 3 22 1 11 4 4 1 2 2
Below cutoff 1 2 4 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA487963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF057307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF307850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC420206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ587608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M32221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000394934   ⟹   ENSP00000378392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,816,299 - 71,851,325 (-)Ensembl
RefSeq Acc Id: ENST00000394936   ⟹   ENSP00000378394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,816,298 - 71,851,251 (-)Ensembl
RefSeq Acc Id: ENST00000493143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,819,751 - 71,822,205 (-)Ensembl
RefSeq Acc Id: ENST00000495196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,818,622 - 71,819,271 (-)Ensembl
RefSeq Acc Id: ENST00000610929   ⟹   ENSP00000480857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,816,299 - 71,851,325 (-)Ensembl
RefSeq Acc Id: ENST00000633965   ⟹   ENSP00000488331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,819,816 - 71,828,134 (-)Ensembl
RefSeq Acc Id: NM_001042465   ⟹   NP_001035930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,816,298 - 71,851,251 (-)NCBI
GRCh371073,576,055 - 73,611,082 (-)ENTREZGENE
Build 361073,246,061 - 73,281,088 (-)NCBI Archive
HuRef1067,569,822 - 67,604,837 (-)ENTREZGENE
CHM1_11073,858,018 - 73,893,059 (-)NCBI
T2T-CHM13v2.01072,687,031 - 72,721,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001042466   ⟹   NP_001035931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,816,298 - 71,851,251 (-)NCBI
GRCh371073,576,055 - 73,611,082 (-)ENTREZGENE
Build 361073,246,061 - 73,281,088 (-)NCBI Archive
HuRef1067,569,822 - 67,604,837 (-)ENTREZGENE
CHM1_11073,858,018 - 73,893,059 (-)NCBI
T2T-CHM13v2.01072,687,031 - 72,721,975 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002778   ⟹   NP_002769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,816,298 - 71,851,251 (-)NCBI
GRCh371073,576,055 - 73,611,082 (-)ENTREZGENE
Build 361073,246,061 - 73,281,088 (-)NCBI Archive
HuRef1067,569,822 - 67,604,837 (-)ENTREZGENE
CHM1_11073,858,018 - 73,893,059 (-)NCBI
T2T-CHM13v2.01072,687,031 - 72,721,975 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035930 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035931 (Get FASTA)   NCBI Sequence Viewer  
  NP_002769 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36594 (Get FASTA)   NCBI Sequence Viewer  
  AAA36595 (Get FASTA)   NCBI Sequence Viewer  
  AAA36596 (Get FASTA)   NCBI Sequence Viewer  
  AAA52560 (Get FASTA)   NCBI Sequence Viewer  
  AAA60303 (Get FASTA)   NCBI Sequence Viewer  
  AAB59494 (Get FASTA)   NCBI Sequence Viewer  
  AAC64921 (Get FASTA)   NCBI Sequence Viewer  
  AAG31635 (Get FASTA)   NCBI Sequence Viewer  
  AAH01503 (Get FASTA)   NCBI Sequence Viewer  
  AAH04275 (Get FASTA)   NCBI Sequence Viewer  
  AAH07612 (Get FASTA)   NCBI Sequence Viewer  
  AAH91483 (Get FASTA)   NCBI Sequence Viewer  
  AAP35495 (Get FASTA)   NCBI Sequence Viewer  
  BAA00321 (Get FASTA)   NCBI Sequence Viewer  
  BAD93013 (Get FASTA)   NCBI Sequence Viewer  
  BAD97010 (Get FASTA)   NCBI Sequence Viewer  
  BAG57116 (Get FASTA)   NCBI Sequence Viewer  
  BAG61229 (Get FASTA)   NCBI Sequence Viewer  
  CAA40391 (Get FASTA)   NCBI Sequence Viewer  
  CAA40392 (Get FASTA)   NCBI Sequence Viewer  
  CAG33027 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43188 (Get FASTA)   NCBI Sequence Viewer  
  EAW54436 (Get FASTA)   NCBI Sequence Viewer  
  EAW54437 (Get FASTA)   NCBI Sequence Viewer  
  EAW54438 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000378394
  ENSP00000378394.3
  ENSP00000488331.1
GenBank Protein P07602 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002769   ⟸   NM_002778
- Peptide Label: isoform a preproprotein
- UniProtKB: Q92741 (UniProtKB/Swiss-Prot),   Q92740 (UniProtKB/Swiss-Prot),   Q92739 (UniProtKB/Swiss-Prot),   Q6IBQ6 (UniProtKB/Swiss-Prot),   Q53Y86 (UniProtKB/Swiss-Prot),   P78558 (UniProtKB/Swiss-Prot),   P78547 (UniProtKB/Swiss-Prot),   P78546 (UniProtKB/Swiss-Prot),   P78541 (UniProtKB/Swiss-Prot),   P78538 (UniProtKB/Swiss-Prot),   P15793 (UniProtKB/Swiss-Prot),   P07292 (UniProtKB/Swiss-Prot),   Q92742 (UniProtKB/Swiss-Prot),   P07602 (UniProtKB/Swiss-Prot),   Q53FJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035931   ⟸   NM_001042466
- Peptide Label: isoform c preproprotein
- UniProtKB: Q53FJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035930   ⟸   NM_001042465
- Peptide Label: isoform b preproprotein
- UniProtKB: Q59EN5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000480857   ⟸   ENST00000610929
RefSeq Acc Id: ENSP00000378394   ⟸   ENST00000394936
RefSeq Acc Id: ENSP00000378392   ⟸   ENST00000394934
RefSeq Acc Id: ENSP00000488331   ⟸   ENST00000633965
Protein Domains
Saposin A-type   Saposin B-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07602-F1-model_v2 AlphaFold P07602 1-524 view protein structure

Promoters
RGD ID:7217793
Promoter ID:EPDNEW_H14642
Type:initiation region
Name:PSAP_1
Description:prosaposin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,851,249 - 71,851,309EPDNEW
RGD ID:6788017
Promoter ID:HG_KWN:9967
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000048556
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,248,961 - 73,249,922 (-)MPROMDB
RGD ID:6788016
Promoter ID:HG_KWN:9968
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000048555,   UC001JSL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,251,566 - 73,252,512 (-)MPROMDB
RGD ID:6809868
Promoter ID:HG_ACW:8490
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:PSAP.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,280,076 - 73,280,576 (-)MPROMDB
RGD ID:6787642
Promoter ID:HG_KWN:9969
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000357471,   ENST00000373120,   ENST00000394929,   ENST00000394934,   ENST00000394936,   ENST00000394940,   ENST00000402059,   ENST00000404083,   NM_001042465,   NM_001042466
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,280,724 - 73,281,224 (-)MPROMDB
RGD ID:6850818
Promoter ID:EP73203
Type:multiple initiation site
Name:HS_PSAP
Description:Prosaposin (variant Gaucher disease and variant metachromaticleukodystrophy).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,281,012 - 73,281,072EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9498 AgrOrtholog
COSMIC PSAP COSMIC
Ensembl Genes ENSG00000197746 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000394936 ENTREZGENE
  ENST00000394936.8 UniProtKB/Swiss-Prot
  ENST00000633965.1 UniProtKB/TrEMBL
Gene3D-CATH Saposin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197746 GTEx
HGNC ID HGNC:9498 ENTREZGENE
Human Proteome Map PSAP Human Proteome Map
InterPro SAP_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SapB_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SapB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Saposin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Saposin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Saposin_chordata UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SaposinB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5660 UniProtKB/Swiss-Prot
NCBI Gene 5660 ENTREZGENE
OMIM 176801 OMIM
PANTHER PROSAPOSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAPOSIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SapA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SapB_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SapB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33845 PharmGKB
PIRSF Saposin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS SAPOSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SAP_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAPA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SapB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47862 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YXB8_HUMAN UniProtKB/TrEMBL
  L8EA14_HUMAN UniProtKB/TrEMBL
  P07292 ENTREZGENE
  P07602 ENTREZGENE
  P15793 ENTREZGENE
  P78538 ENTREZGENE
  P78541 ENTREZGENE
  P78546 ENTREZGENE
  P78547 ENTREZGENE
  P78558 ENTREZGENE
  Q53FJ5 ENTREZGENE, UniProtKB/TrEMBL
  Q53Y86 ENTREZGENE
  Q59EN5 ENTREZGENE, UniProtKB/TrEMBL
  Q5BJH1_HUMAN UniProtKB/TrEMBL
  Q6IBQ6 ENTREZGENE
  Q92739 ENTREZGENE
  Q92740 ENTREZGENE
  Q92741 ENTREZGENE
  Q92742 ENTREZGENE
  SAP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary P07292 UniProtKB/Swiss-Prot
  P15793 UniProtKB/Swiss-Prot
  P78538 UniProtKB/Swiss-Prot
  P78541 UniProtKB/Swiss-Prot
  P78546 UniProtKB/Swiss-Prot
  P78547 UniProtKB/Swiss-Prot
  P78558 UniProtKB/Swiss-Prot
  Q53Y86 UniProtKB/Swiss-Prot
  Q6IBQ6 UniProtKB/Swiss-Prot
  Q92739 UniProtKB/Swiss-Prot
  Q92740 UniProtKB/Swiss-Prot
  Q92741 UniProtKB/Swiss-Prot
  Q92742 UniProtKB/Swiss-Prot