PSAP (prosaposin) - Rat Genome Database

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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; lysosomal transport; and positive regulation of beta-galactosidase activity. 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 Orthologs
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)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
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)
beta-lapachone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (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  (EXP,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  (EXP,ISO)
sodium fluoride  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
titanium dioxide  (EXP,ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
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)
Decorticate 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)
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)
Gait disturbance  (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)
Hand clenching  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Horizontal nystagmus  (IAGP)
Hydrocephalus  (IAGP)
Hyperesthesia  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperkinetic movements  (IAGP)
Hyperpyrexia  (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 spasm  (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 tissue galactocerebrosidase activity  (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)
Weight loss  (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:19570996  
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:30884312   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:38206457   PMID:38207022  
PMID:38297188   PMID:38496616   PMID:39238192  


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
805 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) single nucleotide variant Gaucher disease due to saposin C deficiency [RCV005042048]|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]|Parkinson disease 24, autosomal dominant, susceptibility to [RCV004527289]|Sphingolipid activator protein 1 deficiency [RCV000014291] Chr10:71825892 [GRCh38]
Chr10:73585649 [GRCh37]
Chr10:10q22.1
pathogenic|likely 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 disorder [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 Gaucher disease due to saposin C deficiency [RCV005049337]|Sphingolipid activator protein 1 deficiency [RCV000014304]|not provided [RCV001090814] Chr10:71821956..71821957 [GRCh38]
Chr10:73581713..73581714 [GRCh37]
Chr10:10q22.1
pathogenic|likely 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 disorder [RCV004528289]|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]|PSAP-related disorder [RCV003962415]|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]|Hearing loss, autosomal recessive [RCV004577736]|Krabbe disease due to saposin A deficiency [RCV001103807]|Metachromatic leukodystrophy [RCV000391848]|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 provided [RCV004718129]|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]|Inborn genetic diseases [RCV004021479]|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]|not provided [RCV004706764] 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]|not provided [RCV004718286] 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]|PSAP-related disorder [RCV003920235]|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]|Inborn genetic diseases [RCV004668890]|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]|PSAP-related disorder [RCV003938594]|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 disorder [RCV004528889]|Combined PSAP deficiency [RCV000308301]|Galactosylceramide beta-galactosidase deficiency [RCV000395744]|Hearing loss, autosomal recessive [RCV004577726]|Metachromatic leukodystrophy [RCV000360078]|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]|Autosomal recessive nonsyndromic hearing loss 12 [RCV004821276]|CDH23-related disorder [RCV004757144]|Combined PSAP deficiency [RCV000353393]|Galactosylceramide beta-galactosidase deficiency [RCV000313766]|Hearing loss, autosomal recessive [RCV004577725]|Metachromatic leukodystrophy [RCV000277348]|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
NC_000010.11:g.71851339C>T single nucleotide variant Atypical Gaucher Disease [RCV000259641]|Combined PSAP deficiency [RCV000395916]|Galactosylceramide beta-galactosidase deficiency [RCV000355868]|Metachromatic leukodystrophy [RCV000303370]|not provided [RCV004705499] 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 disorder [RCV004529538]|Combined PSAP deficiency [RCV000266027]|Galactosylceramide beta-galactosidase deficiency [RCV000375963]|Hearing loss, autosomal recessive [RCV004577770]|Metachromatic leukodystrophy [RCV000279075]|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 disorder [RCV004529542]|Combined PSAP deficiency [RCV000319096]|Galactosylceramide beta-galactosidase deficiency [RCV000261585]|Hearing loss, autosomal recessive [RCV004577771]|Metachromatic leukodystrophy [RCV000353004]|PSAP-related disorder [RCV003940137]|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]|Hearing loss, autosomal recessive [RCV004577780]|Metachromatic leukodystrophy [RCV000267207]|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]|Hearing loss, autosomal recessive [RCV004577783]|Krabbe disease due to saposin A deficiency [RCV000405012]|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 disorder [RCV004529537]|Combined PSAP deficiency [RCV000404504]|Galactosylceramide beta-galactosidase deficiency [RCV000406507]|Hearing loss, autosomal recessive [RCV004577769]|Inborn genetic diseases [RCV003165815]|Metachromatic leukodystrophy [RCV000350786]|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]|Inborn genetic diseases [RCV004955406]|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]|Hearing loss, autosomal recessive [RCV004577777]|Metachromatic leukodystrophy [RCV000380695]|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 disorder [RCV004529535]|Combined PSAP deficiency [RCV000328937]|Galactosylceramide beta-galactosidase deficiency [RCV000273893]|Hearing loss, autosomal recessive [RCV004577767]|Metachromatic leukodystrophy [RCV000383482]|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]|Hearing loss, autosomal recessive [RCV004577776]|Metachromatic leukodystrophy [RCV000368083]|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 disorder [RCV004529547]|Combined PSAP deficiency [RCV000283671]|Gaucher disease due to saposin C deficiency [RCV000380533]|Hearing loss, autosomal recessive [RCV004577778]|Krabbe disease due to saposin A deficiency [RCV000322706]|PSAP-related disorder [RCV003910097]|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]|Hearing loss, autosomal recessive [RCV004577781]|Metachromatic leukodystrophy [RCV000319279]|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]|Hearing loss, autosomal recessive [RCV004577717]|Metachromatic leukodystrophy [RCV000305041]|Retinitis pigmentosa-deafness syndrome [RCV000312528]|Usher syndrome type 1D [RCV001105081]|not provided [RCV001523600]|not specified [RCV000039307] Chr10:71811764 [GRCh38]
Chr10:71811764..71811765 [GRCh38]
Chr10:73571521 [GRCh37]
Chr10:73571521..73571522 [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]|Hearing loss, autosomal recessive [RCV004577718]|Metachromatic leukodystrophy [RCV000356182]|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]|CDH23-related disorder [RCV004534838]|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]|Hearing loss, autosomal recessive [RCV004577719]|Metachromatic leukodystrophy [RCV000311112]|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]|CDH23-related disorder [RCV004541126]|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 disorder [RCV004529546]|Combined PSAP deficiency [RCV000403587]|Galactosylceramide beta-galactosidase deficiency [RCV000286901]|Hearing loss, autosomal recessive [RCV004577774]|Metachromatic leukodystrophy [RCV000407781]|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 disorder [RCV004529536]|Combined PSAP deficiency [RCV000282351]|Galactosylceramide beta-galactosidase deficiency [RCV000340738]|Hearing loss, autosomal recessive [RCV004577768]|Metachromatic leukodystrophy [RCV000376807]|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]|Hearing loss, autosomal recessive [RCV004577779]|Krabbe disease due to saposin A deficiency [RCV000335403]|PSAP-related disorder [RCV003897683]|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 disorder [RCV004529548]|Combined PSAP deficiency [RCV000292556]|Galactosylceramide beta-galactosidase deficiency [RCV000388913]|Hearing loss, autosomal recessive [RCV004577782]|Metachromatic leukodystrophy [RCV000349779]|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]|Hearing loss, autosomal recessive [RCV004577775]|Metachromatic leukodystrophy [RCV000298356]|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]|Hearing loss, autosomal recessive [RCV004577772]|Metachromatic leukodystrophy [RCV000291512]|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 disorder [RCV004529533]|Combined PSAP deficiency [RCV000363140]|Galactosylceramide beta-galactosidase deficiency [RCV000396018]|Hearing loss, autosomal recessive [RCV004577766]|Metachromatic leukodystrophy [RCV000403032]|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 disorder [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]|not provided [RCV004719844] Chr10:71819093 [GRCh38]
Chr10:73578850 [GRCh37]
Chr10:10q22.1
pathogenic|likely 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]|PSAP-related disorder [RCV003902722]|Sphingolipid activator protein 1 deficiency [RCV001084808]|not provided [RCV000484673] Chr10:71829044 [GRCh38]
Chr10:73588801 [GRCh37]
Chr10:10q22.1
benign|likely 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]|PSAP-related disorder [RCV004722987] 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]|PSAP-related disorder [RCV003960205]|Sphingolipid activator protein 1 deficiency [RCV001087790]|not provided [RCV000512836] Chr10:71851212 [GRCh38]
Chr10:73610969 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) single nucleotide variant Inborn genetic diseases [RCV004023457]|Metachromatic leukodystrophy [RCV001829458]|Sphingolipid activator protein 1 deficiency [RCV001088093]|not provided [RCV000513446] Chr10:71834418 [GRCh38]
Chr10:73594175 [GRCh37]
Chr10:10q22.1
benign|likely 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]
Chr10:71818746..71818747 [GRCh38]
Chr10:73578503 [GRCh37]
Chr10:73578503..73578504 [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]|not specified [RCV004782644] 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 PSAP-related disorder [RCV003923297]|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 Inborn genetic diseases [RCV004958290]|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 PSAP-related disorder [RCV003892162]|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]|PSAP-related disorder [RCV003918568]|Sphingolipid activator protein 1 deficiency [RCV000974739]|not provided [RCV003736945] 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]|PSAP-related disorder [RCV003913139]|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 PSAP-related disorder [RCV003970636]|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]|not provided [RCV004705892] 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]|not provided [RCV004792724] 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]|not provided [RCV004707486] 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]|not provided [RCV003884798] 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]|PSAP-related disorder [RCV003970825]|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 Krabbe disease due to saposin A deficiency [RCV004821301]|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]|not provided [RCV004705880] 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]|Parkinson disease 24, autosomal dominant, susceptibility to [RCV004820867]|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 Gaucher disease due to saposin C deficiency [RCV005047275]|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]|not provided [RCV004762097] 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]|Inborn genetic diseases [RCV004671346]|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
pathogenic|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 PSAP-related disorder [RCV003965927]|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 PSAP-related disorder [RCV003946125]|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 Inborn genetic diseases [RCV004952866]|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 PSAP-related disorder [RCV003900586]|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 Inborn genetic diseases [RCV004952957]|PSAP-related disorder [RCV003900748]|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 Sphingolipid activator protein 1 deficiency [RCV003626688]|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 Combined PSAP deficiency [RCV004798930]|Gaucher disease due to saposin C deficiency [RCV001801340]|Gaucher disease due to saposin C deficiency [RCV005040390]|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]|not specified [RCV004587239] 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