PSAT1 (phosphoserine aminotransferase 1) - Rat Genome Database

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Gene: PSAT1 (phosphoserine aminotransferase 1) Homo sapiens
Analyze
Symbol: PSAT1
Name: phosphoserine aminotransferase 1
RGD ID: 1607031
HGNC Page HGNC:19129
Description: Enables O-phospho-L-serine:2-oxoglutarate aminotransferase activity and identical protein binding activity. Involved in L-serine biosynthetic process. Located in cytosol. Implicated in Neu-Laxova syndrome 2 and PSAT deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endometrial progesterone-induced protein; EPIP; MGC1460; NLS2; phosphohydroxythreonine aminotransferase; phosphoserine aminotransferase; phosphoserine transaminase; PSA; PSAT; PSATD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PSAT1P1   PSAT1P2   PSAT1P3   PSAT1P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38978,297,125 - 78,330,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl978,297,125 - 78,330,093 (+)EnsemblGRCh38hg38GRCh38
GRCh37980,912,041 - 80,945,009 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36980,101,879 - 80,134,829 (+)NCBINCBI36Build 36hg18NCBI36
Celera951,489,329 - 51,522,284 (+)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef950,743,076 - 50,776,006 (+)NCBIHuRef
CHM1_1981,059,641 - 81,092,550 (+)NCBICHM1_1
T2T-CHM13v2.0990,454,269 - 90,487,311 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrylamide  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphotericin B  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (EXP)
arachidonic acid  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
avobenzone  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butan-1-ol  (EXP)
butyric acid  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcidiol  (ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chloroethene  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cholesterol  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
clofibric acid  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
Didecyldimethylammonium  (EXP)
dioxygen  (EXP)
diquat  (ISO)
disodium selenite  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (EXP,ISO)
fenpyroximate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
ifosfamide  (EXP)
indole-3-methanol  (ISO)
indometacin  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
Licarin A  (ISO)
lipopolysaccharide  (EXP)
lucanthone  (EXP)
menadione  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N(4)-hydroxycytidine  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
neomycin  (ISO)
nickel dichloride  (EXP)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
PhIP  (ISO)
phorone  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
piroxicam  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
prostaglandin A1  (ISO)
prothioconazole  (EXP)
pyrimidifen  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tebufenpyrad  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
topotecan  (ISO)
triacsin C  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zidovudine  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,TAS)
extracellular exosome  (HDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ablepharon  (IAGP)
Ankle flexion contracture  (IAGP)
Apnea  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral white matter hypoplasia  (IAGP)
Cleft palate  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Cyanotic episode  (IAGP)
Death in infancy  (IAGP)
Decreased CSF glycine concentration  (IAGP)
Decreased CSF serine concentration  (IAGP)
Decreased fetal movement  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Edema  (IAGP)
EEG with focal sharp waves  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Epileptic spasm  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger syndactyly  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Global developmental delay  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
Hyperglycinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoglycinemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyposerinemia  (IAGP)
Ichthyosis  (IAGP)
Inappropriate crying  (IAGP)
Infantile axial hypotonia  (IAGP)
Intrauterine growth retardation  (IAGP)
Knee flexion contracture  (IAGP)
Lateral ventricle dilatation  (IAGP)
Limb joint contracture  (IAGP)
Lissencephaly  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Myoclonus  (IAGP)
Nasogastric tube feeding  (IAGP)
Neonatal onset  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Polyhydramnios  (IAGP)
Primary microcephaly  (IAGP)
Profound global developmental delay  (IAGP)
Proptosis  (IAGP)
Protuberant abdomen  (IAGP)
Rocker bottom foot  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Simplified gyral pattern  (IAGP)
Sloping forehead  (IAGP)
Spastic tetraparesis  (IAGP)
Spina bifida  (IAGP)
Thickened nuchal skin fold  (IAGP)
Toe syndactyly  (IAGP)
Ventriculomegaly  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:3651428   PMID:10637769   PMID:12477932   PMID:12633500   PMID:15489334   PMID:16196087   PMID:16263121   PMID:17436247   PMID:18221502   PMID:18781797   PMID:19056867   PMID:20458337  
PMID:20955740   PMID:20972266   PMID:21139048   PMID:21319273   PMID:21832049   PMID:21873635   PMID:21890473   PMID:21900206   PMID:21906983   PMID:21963094   PMID:21988832   PMID:22053931  
PMID:22190034   PMID:22360420   PMID:22505724   PMID:22589738   PMID:22863883   PMID:22939629   PMID:23000965   PMID:23166591   PMID:23251661   PMID:23376485   PMID:23824909   PMID:24654937  
PMID:24816145   PMID:25142862   PMID:25147182   PMID:25152457   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26439504   PMID:27372650   PMID:27684187   PMID:27880917   PMID:28302793  
PMID:28514442   PMID:28522855   PMID:28611215   PMID:29216929   PMID:29507755   PMID:29704455   PMID:30258100   PMID:30455355   PMID:30833792   PMID:30948266   PMID:31036704   PMID:31300519  
PMID:31478661   PMID:31630284   PMID:31772275   PMID:31903955   PMID:31980649   PMID:31988456   PMID:32077105   PMID:32235678   PMID:32296183   PMID:32300099   PMID:32579715   PMID:32707033  
PMID:32814053   PMID:32826249   PMID:32901893   PMID:33500247   PMID:33588715   PMID:33729478   PMID:33762435   PMID:33845483   PMID:33916271   PMID:34089226   PMID:34428256   PMID:34709727  
PMID:34745083   PMID:35013556   PMID:35032548   PMID:35045283   PMID:35063084   PMID:35256949   PMID:35271311   PMID:35356984   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35562734  
PMID:35615948   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36327671   PMID:36371491   PMID:36599231   PMID:36788227   PMID:36851825   PMID:36906716  
PMID:37192746   PMID:37347880   PMID:37627284   PMID:37827155   PMID:37832835   PMID:37919070   PMID:38113892   PMID:38373588  


Genomics

Comparative Map Data
PSAT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38978,297,125 - 78,330,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl978,297,125 - 78,330,093 (+)EnsemblGRCh38hg38GRCh38
GRCh37980,912,041 - 80,945,009 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36980,101,879 - 80,134,829 (+)NCBINCBI36Build 36hg18NCBI36
Celera951,489,329 - 51,522,284 (+)NCBICelera
Cytogenetic Map9q21.2NCBI
HuRef950,743,076 - 50,776,006 (+)NCBIHuRef
CHM1_1981,059,641 - 81,092,550 (+)NCBICHM1_1
T2T-CHM13v2.0990,454,269 - 90,487,311 (+)NCBIT2T-CHM13v2.0
Psat1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391915,882,487 - 15,902,423 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1915,882,042 - 15,924,701 (-)EnsemblGRCm39 Ensembl
GRCm381915,905,123 - 15,925,059 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1915,904,678 - 15,947,337 (-)EnsemblGRCm38mm10GRCm38
MGSCv371915,979,622 - 15,999,515 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361915,972,151 - 15,992,044 (-)NCBIMGSCv36mm8
Celera1916,558,064 - 16,577,964 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map1910.86NCBI
Psat1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81222,623,553 - 222,646,187 (-)NCBIGRCr8
mRatBN7.21213,196,709 - 213,218,564 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1213,196,709 - 213,218,682 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1221,530,997 - 221,553,207 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01228,460,604 - 228,482,458 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,285,550 - 221,307,762 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01233,124,089 - 233,145,941 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1233,124,092 - 233,145,941 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01240,241,194 - 240,263,046 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41219,268,419 - 219,290,273 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11219,432,443 - 219,454,296 (-)NCBI
Celera1210,534,954 - 210,556,799 (-)NCBICelera
Cytogenetic Map1q43NCBI
Psat1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555121,132,390 - 1,155,412 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555121,132,452 - 1,155,405 (-)NCBIChiLan1.0ChiLan1.0
PSAT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21177,456,741 - 77,490,075 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1977,463,258 - 77,496,017 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0946,517,253 - 46,550,018 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1977,147,493 - 77,180,439 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl977,147,493 - 77,180,439 (+)Ensemblpanpan1.1panPan2
PSAT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1180,376,469 - 80,408,177 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl180,377,115 - 80,408,162 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha180,840,433 - 80,872,053 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0180,788,941 - 80,820,578 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl180,788,930 - 80,821,265 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1180,574,839 - 80,606,469 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0180,296,037 - 80,327,710 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0181,026,381 - 81,058,002 (-)NCBIUU_Cfam_GSD_1.0
Psat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947127,570,762 - 127,601,270 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366324,391,459 - 4,423,264 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366324,392,165 - 4,422,670 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSAT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1231,142,625 - 231,172,360 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11231,142,673 - 231,172,364 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21257,809,911 - 257,835,735 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PSAT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11289,223,463 - 89,256,017 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1289,223,526 - 89,256,022 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603877,564,510 - 77,596,213 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psat1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248115,727,685 - 5,751,607 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248115,727,912 - 5,751,921 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSAT1
462 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_058179.4(PSAT1):c.107del (p.Gly36fs) deletion Neu-Laxova syndrome 2 [RCV003586120]|PSAT deficiency [RCV000001136]|not provided [RCV001254415] Chr9:78300647 [GRCh38]
Chr9:80915563 [GRCh37]
Chr9:9q21.2		 pathogenic|not provided
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) single nucleotide variant Neu-Laxova syndrome 2 [RCV003586121]|PSAT deficiency [RCV000001137]|not provided [RCV001254373] Chr9:78304842 [GRCh38]
Chr9:80919758 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic|not provided
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1 copy number loss See cases [RCV000052907] Chr9:73706686..80370629 [GRCh38]
Chr9:76321602..82985544 [GRCh37]
Chr9:75511422..82175364 [NCBI36]
Chr9:9q21.13-21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) indel Neu-Laxova syndrome 2 [RCV000144446]|not provided [RCV001254416] Chr9:78328996..78329000 [GRCh38]
Chr9:80943912..80943916 [GRCh37]
Chr9:9q21.2		 pathogenic|not provided
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) single nucleotide variant Neu-Laxova syndrome 2 [RCV000144447]|not provided [RCV001254512] Chr9:78306452 [GRCh38]
Chr9:80921368 [GRCh37]
Chr9:9q21.2		 pathogenic|not provided
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV000144448]|not provided [RCV001254372] Chr9:78304839 [GRCh38]
Chr9:80919755 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic|not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1 copy number loss See cases [RCV000140595] Chr9:77531690..78300187 [GRCh38]
Chr9:80146606..80915103 [GRCh37]
Chr9:79336426..80104923 [NCBI36]
Chr9:9q21.2		 likely pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_058179.4(PSAT1):c.432del (p.Asp145fs) deletion PSAT deficiency [RCV003388586]|not provided [RCV000521804] Chr9:78306348 [GRCh38]
Chr9:80921264 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) single nucleotide variant PSAT deficiency [RCV000301177]|not provided [RCV001254468] Chr9:78317756 [GRCh38]
Chr9:80932672 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) single nucleotide variant Neu-Laxova syndrome 2 [RCV003748225]|PSAT deficiency [RCV000345093]|not provided [RCV001254430] Chr9:78297265 [GRCh38]
Chr9:80912181 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.*670T>G single nucleotide variant PSAT deficiency [RCV000347019] Chr9:78329756 [GRCh38]
Chr9:80944672 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV000652405]|PSAT deficiency [RCV000304704]|PSAT1-related condition [RCV003902443]|not provided [RCV001254501] Chr9:78304910 [GRCh38]
Chr9:80919826 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance|not provided
NM_058179.4(PSAT1):c.-12G>C single nucleotide variant Neu-Laxova syndrome 2 [RCV001789320]|PSAT deficiency [RCV000348360] Chr9:78297199 [GRCh38]
Chr9:80912115 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.*836A>G single nucleotide variant PSAT deficiency [RCV000288589]|not provided [RCV003311796] Chr9:78329922 [GRCh38]
Chr9:80944838 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_058179.4(PSAT1):c.*664A>G single nucleotide variant PSAT deficiency [RCV000291875] Chr9:78329750 [GRCh38]
Chr9:80944666 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.54G>A (p.Pro18=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002058814]|PSAT deficiency [RCV000308920] Chr9:78297264 [GRCh38]
Chr9:80912180 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_058179.4(PSAT1):c.*422C>T single nucleotide variant PSAT deficiency [RCV000331719] Chr9:78329508 [GRCh38]
Chr9:80944424 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) single nucleotide variant Neu-Laxova syndrome 2 [RCV001522557]|PSAT deficiency [RCV000402103] Chr9:78304840 [GRCh38]
Chr9:80919756 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.1007+13G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002058815]|PSAT deficiency [RCV000355832] Chr9:78328201 [GRCh38]
Chr9:80943117 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_058179.4(PSAT1):c.*252G>C single nucleotide variant PSAT deficiency [RCV000276677] Chr9:78329338 [GRCh38]
Chr9:80944254 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_058179.4(PSAT1):c.*789A>G single nucleotide variant PSAT deficiency [RCV000382982] Chr9:78329875 [GRCh38]
Chr9:80944791 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1008-11G>T single nucleotide variant Neu-Laxova syndrome 2 [RCV002058816]|PSAT deficiency [RCV000260998] Chr9:78328970 [GRCh38]
Chr9:80943886 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_058179.4(PSAT1):c.398-14G>A single nucleotide variant PSAT deficiency [RCV000359499] Chr9:78306300 [GRCh38]
Chr9:80921216 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.*592A>C single nucleotide variant PSAT deficiency [RCV000386215] Chr9:78329678 [GRCh38]
Chr9:80944594 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000891980]|PSAT deficiency [RCV000316281] Chr9:78329032 [GRCh38]
Chr9:80943948 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_058179.4(PSAT1):c.571-4dup duplication Neu-Laxova syndrome 2 [RCV000893744]|PSAT deficiency [RCV000264784]|PSAT1-related condition [RCV003922656]|not provided [RCV001529794] Chr9:78308405..78308406 [GRCh38]
Chr9:80923321..80923322 [GRCh37]
Chr9:9q21.2		 benign|likely benign|uncertain significance
NM_058179.4(PSAT1):c.*241C>A single nucleotide variant PSAT deficiency [RCV000389510] Chr9:78329327 [GRCh38]
Chr9:80944243 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) single nucleotide variant Microcephaly [RCV001252716]|Neu-Laxova syndrome 2 [RCV001861350]|PSAT deficiency [RCV000390253]|not provided [RCV001254429] Chr9:78297253 [GRCh38]
Chr9:80912169 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.*865C>G single nucleotide variant PSAT deficiency [RCV000343485] Chr9:78329951 [GRCh38]
Chr9:80944867 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_058179.4(PSAT1):c.44C>T (p.Ala15Val) single nucleotide variant PSAT deficiency [RCV003388587]|not provided [RCV000523830] Chr9:78297254 [GRCh38]
Chr9:80912170 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) indel Neu-Laxova syndrome 2 [RCV000819927]|not provided [RCV000414424] Chr9:78304839..78304840 [GRCh38]
Chr9:80919755..80919756 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.2(chr9:80833575-80973771)x3 copy number gain See cases [RCV000447807] Chr9:80833575..80973771 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV000652404]|PSAT deficiency [RCV001168864]|not provided [RCV001254403] Chr9:78328097 [GRCh38]
Chr9:80943013 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance|not provided
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000652406]|not provided [RCV003326485] Chr9:78304891 [GRCh38]
Chr9:80919807 [GRCh37]
Chr9:9q21.2		 benign
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31		 pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
NM_058179.4(PSAT1):c.444C>A (p.Tyr148Ter) single nucleotide variant PSAT deficiency [RCV001808201] Chr9:78306360 [GRCh38]
Chr9:80921276 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_058179.4(PSAT1):c.178del (p.Val60fs) deletion Neu-Laxova syndrome 2 [RCV000702162] Chr9:78302010 [GRCh38]
Chr9:80916926 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV000689928]|not provided [RCV001254557] Chr9:78304938 [GRCh38]
Chr9:80919854 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_058179.4(PSAT1):c.869+9A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV001472860] Chr9:78317813 [GRCh38]
Chr9:80932729 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.869+300C>T single nucleotide variant not provided [RCV001665694] Chr9:78318104 [GRCh38]
Chr9:80933020 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.571-165G>A single nucleotide variant not provided [RCV001645171] Chr9:78308249 [GRCh38]
Chr9:80923165 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.571-80C>T single nucleotide variant not provided [RCV001609015] Chr9:78308334 [GRCh38]
Chr9:80923250 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.*496A>G single nucleotide variant PSAT deficiency [RCV001167546] Chr9:78329582 [GRCh38]
Chr9:80944498 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.*252G>A single nucleotide variant PSAT deficiency [RCV001165981] Chr9:78329338 [GRCh38]
Chr9:80944254 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.*293A>G single nucleotide variant PSAT deficiency [RCV001165982] Chr9:78329379 [GRCh38]
Chr9:80944295 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.90A>G (p.Leu30=) single nucleotide variant not provided [RCV000906958] Chr9:78300631 [GRCh38]
Chr9:80915547 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.369C>T (p.Ile123=) single nucleotide variant Neu-Laxova syndrome 2 [RCV001470215] Chr9:78304912 [GRCh38]
Chr9:80919828 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.696G>A (p.Val232=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000884272]|PSAT1-related condition [RCV003968023] Chr9:78308539 [GRCh38]
Chr9:80923455 [GRCh37]
Chr9:9q21.2		 benign|likely benign
NM_058179.4(PSAT1):c.546G>A (p.Leu182=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002541522] Chr9:78306462 [GRCh38]
Chr9:80921378 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln) single nucleotide variant High myopia [RCV000785711]|Neu-Laxova syndrome 2 [RCV001869042]|not provided [RCV001254445] Chr9:78304871 [GRCh38]
Chr9:80919787 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_058179.4(PSAT1):c.61-2A>G single nucleotide variant PSAT deficiency [RCV000778891] Chr9:78300600 [GRCh38]
Chr9:80915516 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001856165]|PSAT deficiency [RCV000778892]|not provided [RCV001772039] Chr9:78329084 [GRCh38]
Chr9:80944000 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.270C>G (p.Leu90=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000942769] Chr9:78304813 [GRCh38]
Chr9:80919729 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.870-4T>C single nucleotide variant not provided [RCV000942907] Chr9:78328047 [GRCh38]
Chr9:80942963 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.795G>A (p.Ala265=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000968438] Chr9:78317730 [GRCh38]
Chr9:80932646 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.468G>A (p.Thr156=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000902921]|not provided [RCV003457890] Chr9:78306384 [GRCh38]
Chr9:80921300 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001447883]|not provided [RCV000886733] Chr9:78328065 [GRCh38]
Chr9:80942981 [GRCh37]
Chr9:9q21.2		 likely benign|not provided
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) single nucleotide variant Neu-Laxova syndrome 2 [RCV000960047]|not provided [RCV002275207] Chr9:78304936 [GRCh38]
Chr9:80919852 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV000818408]|not provided [RCV001254527] Chr9:78317803 [GRCh38]
Chr9:80932719 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp) single nucleotide variant PSAT deficiency [RCV001167489] Chr9:78300648 [GRCh38]
Chr9:80915564 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.*498C>T single nucleotide variant PSAT deficiency [RCV001167547] Chr9:78329584 [GRCh38]
Chr9:80944500 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.*554G>A single nucleotide variant PSAT deficiency [RCV001167548] Chr9:78329640 [GRCh38]
Chr9:80944556 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_058179.4(PSAT1):c.*939C>T single nucleotide variant PSAT deficiency [RCV001168176] Chr9:78330025 [GRCh38]
Chr9:80944941 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.706A>C (p.Asn236His) single nucleotide variant Neu-Laxova syndrome 2 [RCV001859094]|PSAT deficiency [RCV001168863]|not provided [RCV001254520] Chr9:78308549 [GRCh38]
Chr9:80923465 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.*219A>G single nucleotide variant PSAT deficiency [RCV001165979] Chr9:78329305 [GRCh38]
Chr9:80944221 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV002068030]|PSAT deficiency [RCV001168099]|PSAT1-related condition [RCV003945893]|not provided [RCV001254382] Chr9:78306361 [GRCh38]
Chr9:80921277 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance|not provided
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV002067828]|PSAT deficiency [RCV001168102]|PSAT1-related condition [RCV003908421]|not provided [RCV001254519] Chr9:78308543 [GRCh38]
Chr9:80923459 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance|not provided
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV001228552]|PSAT deficiency [RCV001168097]|not provided [RCV001254503] Chr9:78304913 [GRCh38]
Chr9:80919829 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV000810596] Chr9:78306336 [GRCh38]
Chr9:80921252 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.831A>G (p.Thr277=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002065927] Chr9:78317766 [GRCh38]
Chr9:80932682 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001859073]|PSAT deficiency [RCV001165918]|not provided [RCV001254426] Chr9:78297214 [GRCh38]
Chr9:80912130 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.231A>T (p.Gly77=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002067819]|PSAT deficiency [RCV001167490]|PSAT1-related condition [RCV003953558] Chr9:78304774 [GRCh38]
Chr9:80919690 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:78672613-83349616)x1 copy number loss not provided [RCV000848555] Chr9:78672613..83349616 [GRCh37]
Chr9:9q21.13-21.31		 uncertain significance
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys) single nucleotide variant Neu-Laxova syndrome 2 [RCV001241283] Chr9:78306397 [GRCh38]
Chr9:80921313 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.121+5G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV001858687]|PSAT deficiency [RCV000988187] Chr9:78300667 [GRCh38]
Chr9:80915583 [GRCh37]
Chr9:9q21.2		 likely pathogenic|uncertain significance
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) single nucleotide variant Neu-Laxova syndrome 2 [RCV001873557]|PSAT deficiency [RCV001168101]|not provided [RCV001254462] Chr9:78308508 [GRCh38]
Chr9:80923424 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.*719G>A single nucleotide variant PSAT deficiency [RCV001168175] Chr9:78329805 [GRCh38]
Chr9:80944721 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.*378T>C single nucleotide variant PSAT deficiency [RCV001165983] Chr9:78329464 [GRCh38]
Chr9:80944380 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.870-138G>A single nucleotide variant not provided [RCV001671463] Chr9:78327913 [GRCh38]
Chr9:80942829 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.570+44G>T single nucleotide variant Neu-Laxova syndrome 2 [RCV001789480]|PSAT deficiency [RCV001789479]|not provided [RCV001655312] Chr9:78306530 [GRCh38]
Chr9:80921446 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.191+157C>T single nucleotide variant not provided [RCV001713612] Chr9:78302180 [GRCh38]
Chr9:80917096 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.869+278T>C single nucleotide variant not provided [RCV001608493] Chr9:78318082 [GRCh38]
Chr9:80932998 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.122-255G>A single nucleotide variant not provided [RCV001710001] Chr9:78301699 [GRCh38]
Chr9:80916615 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.741-77C>A single nucleotide variant not provided [RCV001656534] Chr9:78317599 [GRCh38]
Chr9:80932515 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.398-209G>A single nucleotide variant not provided [RCV001676750] Chr9:78306105 [GRCh38]
Chr9:80921021 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.398-142T>G single nucleotide variant not provided [RCV001595624] Chr9:78306172 [GRCh38]
Chr9:80921088 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.397+100dup duplication not provided [RCV001674921] Chr9:78305039..78305040 [GRCh38]
Chr9:80919955..80919956 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.191+131C>T single nucleotide variant not provided [RCV001650589] Chr9:78302154 [GRCh38]
Chr9:80917070 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.870-1G>T single nucleotide variant Neu-Laxova syndrome 2 [RCV002032850]|not provided [RCV001767372] Chr9:78328050 [GRCh38]
Chr9:80942966 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_058179.4(PSAT1):c.792C>T (p.Ala264=) single nucleotide variant Neu-Laxova syndrome 2 [RCV001401923] Chr9:78317727 [GRCh38]
Chr9:80932643 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.571-4T>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002065702] Chr9:78308410 [GRCh38]
Chr9:80923326 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002068011]|PSAT deficiency [RCV001165978] Chr9:78329047 [GRCh38]
Chr9:80943963 [GRCh37]
Chr9:9q21.2		 benign|uncertain significance
NM_058179.4(PSAT1):c.270C>T (p.Leu90=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002067820]|PSAT deficiency [RCV001167491] Chr9:78304813 [GRCh38]
Chr9:80919729 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001873553]|PSAT deficiency [RCV001167492]|not provided [RCV001254448] Chr9:78304878 [GRCh38]
Chr9:80919794 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.813C>T (p.Ser271=) single nucleotide variant Neu-Laxova syndrome 2 [RCV001858558] Chr9:78317748 [GRCh38]
Chr9:80932664 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.740+110C>T single nucleotide variant not provided [RCV001657659] Chr9:78308693 [GRCh38]
Chr9:80923609 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.61-126G>A single nucleotide variant not provided [RCV001617421] Chr9:78300476 [GRCh38]
Chr9:80915392 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.1007+167A>C single nucleotide variant not provided [RCV001677199] Chr9:78328355 [GRCh38]
Chr9:80943271 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.61-115A>T single nucleotide variant not provided [RCV001657237] Chr9:78300487 [GRCh38]
Chr9:80915403 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.307G>C (p.Val103Leu) single nucleotide variant not provided [RCV001254376] Chr9:78304850 [GRCh38]
Chr9:80919766 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.439T>A (p.Ser147Thr) single nucleotide variant not provided [RCV001254379] Chr9:78306355 [GRCh38]
Chr9:80921271 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.440C>A (p.Ser147Tyr) single nucleotide variant not provided [RCV001254381] Chr9:78306356 [GRCh38]
Chr9:80921272 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.592G>T (p.Ala198Ser) single nucleotide variant not provided [RCV001254387] Chr9:78308435 [GRCh38]
Chr9:80923351 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.605T>C (p.Val202Ala) single nucleotide variant not provided [RCV001254388] Chr9:78308448 [GRCh38]
Chr9:80923364 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.801G>T (p.Met267Ile) single nucleotide variant not provided [RCV001254400] Chr9:78317736 [GRCh38]
Chr9:80932652 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.917G>A (p.Arg306His) single nucleotide variant not provided [RCV001254404] Chr9:78328098 [GRCh38]
Chr9:80943014 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1098G>C (p.Glu366Asp) single nucleotide variant not provided [RCV001254411] Chr9:78329071 [GRCh38]
Chr9:80943987 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1098G>T (p.Glu366Asp) single nucleotide variant not provided [RCV001254412] Chr9:78329071 [GRCh38]
Chr9:80943987 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.161A>T (p.Asn54Ile) single nucleotide variant not provided [RCV001254424] Chr9:78301993 [GRCh38]
Chr9:80916909 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.326C>T (p.Ala109Val) single nucleotide variant not provided [RCV001254444] Chr9:78304869 [GRCh38]
Chr9:80919785 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879899]|not provided [RCV001254488] Chr9:78300647 [GRCh38]
Chr9:80915563 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.213G>C (p.Lys71Asn) single nucleotide variant not provided [RCV001254493] Chr9:78304756 [GRCh38]
Chr9:80919672 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.531G>T (p.Met177Ile) single nucleotide variant not provided [RCV001254511] Chr9:78306447 [GRCh38]
Chr9:80921363 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.682C>A (p.Leu228Met) single nucleotide variant not provided [RCV001254515] Chr9:78308525 [GRCh38]
Chr9:80923441 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1027G>C (p.Ala343Pro) single nucleotide variant not provided [RCV001254530] Chr9:78329000 [GRCh38]
Chr9:80943916 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879908]|not provided [RCV001254536] Chr9:78329024 [GRCh38]
Chr9:80943940 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.127A>C (p.Ser43Arg) single nucleotide variant not provided [RCV001254539] Chr9:78301959 [GRCh38]
Chr9:80916875 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.132C>A (p.His44Gln) single nucleotide variant not provided [RCV001254542] Chr9:78301964 [GRCh38]
Chr9:80916880 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.132C>G (p.His44Gln) single nucleotide variant not provided [RCV001254543] Chr9:78301964 [GRCh38]
Chr9:80916880 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.260C>T (p.Pro87Leu) single nucleotide variant not provided [RCV001254548] Chr9:78304803 [GRCh38]
Chr9:80919719 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.278T>C (p.Leu93Ser) single nucleotide variant not provided [RCV001254550] Chr9:78304821 [GRCh38]
Chr9:80919737 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.284C>A (p.Ala95Glu) single nucleotide variant not provided [RCV001254551] Chr9:78304827 [GRCh38]
Chr9:80919743 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.573T>G (p.Phe191Leu) single nucleotide variant not provided [RCV001254568] Chr9:78308416 [GRCh38]
Chr9:80923332 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.712T>C (p.Ser238Pro) single nucleotide variant not provided [RCV001254570] Chr9:78308555 [GRCh38]
Chr9:80923471 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.733T>C (p.Cys245Arg) single nucleotide variant not provided [RCV001254572] Chr9:78308576 [GRCh38]
Chr9:80923492 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.746A>G (p.Tyr249Cys) single nucleotide variant not provided [RCV001254573] Chr9:78317681 [GRCh38]
Chr9:80932597 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879912]|not provided [RCV001254574] Chr9:78317683 [GRCh38]
Chr9:80932599 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.878T>C (p.Val293Ala) single nucleotide variant not provided [RCV001254578] Chr9:78328059 [GRCh38]
Chr9:80942975 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1075G>A (p.Ala359Thr) single nucleotide variant not provided [RCV001254585] Chr9:78329048 [GRCh38]
Chr9:80943964 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.740+176T>C single nucleotide variant not provided [RCV001648897] Chr9:78308759 [GRCh38]
Chr9:80923675 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.570+197C>T single nucleotide variant not provided [RCV001707209] Chr9:78306683 [GRCh38]
Chr9:80921599 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.869+69T>G single nucleotide variant not provided [RCV001696012] Chr9:78317873 [GRCh38]
Chr9:80932789 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.1008-296G>A single nucleotide variant not provided [RCV001678818] Chr9:78328685 [GRCh38]
Chr9:80943601 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.740+130T>G single nucleotide variant not provided [RCV001669220] Chr9:78308713 [GRCh38]
Chr9:80923629 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.60+211C>G single nucleotide variant not provided [RCV001724707] Chr9:78297481 [GRCh38]
Chr9:80912397 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.1008-277C>T single nucleotide variant not provided [RCV001671815] Chr9:78328704 [GRCh38]
Chr9:80943620 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.869+167C>T single nucleotide variant not provided [RCV001682329] Chr9:78317971 [GRCh38]
Chr9:80932887 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.740+111A>G single nucleotide variant not provided [RCV001612791] Chr9:78308694 [GRCh38]
Chr9:80923610 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.870-139G>C single nucleotide variant not provided [RCV001684713] Chr9:78327912 [GRCh38]
Chr9:80942828 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) single nucleotide variant Neu-Laxova syndrome 2 [RCV001873556]|PSAT deficiency [RCV001168100]|not provided [RCV001254454] Chr9:78306415 [GRCh38]
Chr9:80921331 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.398-7G>A single nucleotide variant PSAT deficiency [RCV001168098] Chr9:78306307 [GRCh38]
Chr9:80921223 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp) single nucleotide variant Neu-Laxova syndrome 2 [RCV001053148]|not provided [RCV001254438] Chr9:78302013 [GRCh38]
Chr9:80916929 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.-26T>G single nucleotide variant PSAT deficiency [RCV001168803] Chr9:78297185 [GRCh38]
Chr9:80912101 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly) single nucleotide variant Neu-Laxova syndrome 2 [RCV001052162]|not provided [RCV001254591] Chr9:78329070 [GRCh38]
Chr9:80943986 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV001054714]|not provided [RCV001254524] Chr9:78317786 [GRCh38]
Chr9:80932702 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala) single nucleotide variant PSAT deficiency [RCV001165919] Chr9:78297220 [GRCh38]
Chr9:80912136 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001247727]|not provided [RCV001254396] Chr9:78317729 [GRCh38]
Chr9:80932645 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp) single nucleotide variant PSAT deficiency [RCV001165920]|not provided [RCV001254487] Chr9:78300645 [GRCh38]
Chr9:80915561 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.*251C>T single nucleotide variant PSAT deficiency [RCV001165980] Chr9:78329337 [GRCh38]
Chr9:80944253 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001204830]|not provided [RCV001254446] Chr9:78304877 [GRCh38]
Chr9:80919793 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.235G>A (p.Gly79Arg) single nucleotide variant Microcephaly [RCV001252717] Chr9:78304778 [GRCh38]
Chr9:80919694 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV002568739]|not provided [RCV001254386] Chr9:78306373 [GRCh38]
Chr9:80921289 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV003770325]|not provided [RCV001254389] Chr9:78308450 [GRCh38]
Chr9:80923366 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.803A>C (p.Glu268Ala) single nucleotide variant not provided [RCV001254401] Chr9:78317738 [GRCh38]
Chr9:80932654 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.933A>T (p.Lys311Asn) single nucleotide variant not provided [RCV001254410] Chr9:78328114 [GRCh38]
Chr9:80943030 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.136T>C (p.Ser46Pro) single nucleotide variant not provided [RCV001254419] Chr9:78301968 [GRCh38]
Chr9:80916884 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.153G>C (p.Lys51Asn) single nucleotide variant not provided [RCV001254422] Chr9:78301985 [GRCh38]
Chr9:80916901 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879894]|PSAT deficiency [RCV003991539]|not provided [RCV001254449] Chr9:78306383 [GRCh38]
Chr9:80921299 [GRCh37]
Chr9:9q21.2		 pathogenic|uncertain significance|not provided
NM_058179.4(PSAT1):c.493A>T (p.Ile165Leu) single nucleotide variant not provided [RCV001254452] Chr9:78306409 [GRCh38]
Chr9:80921325 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.829A>G (p.Thr277Ala) single nucleotide variant not provided [RCV001254471] Chr9:78317764 [GRCh38]
Chr9:80932680 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.983A>G (p.Asn328Ser) single nucleotide variant not provided [RCV001254476] Chr9:78328164 [GRCh38]
Chr9:80943080 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.97A>G (p.Lys33Glu) single nucleotide variant not provided [RCV001254485] Chr9:78300638 [GRCh38]
Chr9:80915554 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.98A>G (p.Lys33Arg) single nucleotide variant not provided [RCV001254486] Chr9:78300639 [GRCh38]
Chr9:80915555 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.209A>C (p.Tyr70Ser) single nucleotide variant not provided [RCV001254491] Chr9:78304752 [GRCh38]
Chr9:80919668 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.209A>G (p.Tyr70Cys) single nucleotide variant not provided [RCV001254492] Chr9:78304752 [GRCh38]
Chr9:80919668 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879900]|not provided [RCV001254497] Chr9:78304881 [GRCh38]
Chr9:80919797 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.368T>C (p.Ile123Thr) single nucleotide variant not provided [RCV001254502] Chr9:78304911 [GRCh38]
Chr9:80919827 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.695T>A (p.Val232Glu) single nucleotide variant not provided [RCV001254517] Chr9:78308538 [GRCh38]
Chr9:80923454 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879904]|not provided [RCV001254526] Chr9:78317798 [GRCh38]
Chr9:80932714 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879907]|not provided [RCV001254532] Chr9:78329004 [GRCh38]
Chr9:80943920 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.404C>T (p.Pro135Leu) single nucleotide variant not provided [RCV001254558] Chr9:78306320 [GRCh38]
Chr9:80921236 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570568]|not provided [RCV001254589] Chr9:78329063 [GRCh38]
Chr9:80943979 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.311C>T (p.Thr104Ile) single nucleotide variant not provided [RCV001254378] Chr9:78304854 [GRCh38]
Chr9:80919770 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879883]|not provided [RCV001254383] Chr9:78306365 [GRCh38]
Chr9:80921281 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879888]|not provided [RCV001254417] Chr9:78297214 [GRCh38]
Chr9:80912130 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570559]|not provided [RCV001254427] Chr9:78297217 [GRCh38]
Chr9:80912133 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.62T>A (p.Val21Glu) single nucleotide variant not provided [RCV001254431] Chr9:78300603 [GRCh38]
Chr9:80915519 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.182G>A (p.Arg61Gln) single nucleotide variant not provided [RCV001254439] Chr9:78302014 [GRCh38]
Chr9:80916930 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.824C>G (p.Ser275Cys) single nucleotide variant not provided [RCV001254469] Chr9:78317759 [GRCh38]
Chr9:80932675 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.840G>C (p.Glu280Asp) single nucleotide variant not provided [RCV001254472] Chr9:78317775 [GRCh38]
Chr9:80932691 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879897]|not provided [RCV001254480] Chr9:78328994 [GRCh38]
Chr9:80943910 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.91G>A (p.Asp31Asn) single nucleotide variant not provided [RCV001254483] Chr9:78300632 [GRCh38]
Chr9:80915548 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.213G>T (p.Lys71Asn) single nucleotide variant not provided [RCV001254494] Chr9:78304756 [GRCh38]
Chr9:80919672 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.348G>T (p.Lys116Asn) single nucleotide variant not provided [RCV001254500] Chr9:78304891 [GRCh38]
Chr9:80919807 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.529A>G (p.Met177Val) single nucleotide variant not provided [RCV001254507] Chr9:78306445 [GRCh38]
Chr9:80921361 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1037A>G (p.Tyr346Cys) single nucleotide variant not provided [RCV001254534] Chr9:78329010 [GRCh38]
Chr9:80943926 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.129T>A (p.Ser43Arg) single nucleotide variant not provided [RCV001254540] Chr9:78301961 [GRCh38]
Chr9:80916877 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.272T>C (p.Ile91Thr) single nucleotide variant not provided [RCV001254549] Chr9:78304815 [GRCh38]
Chr9:80919731 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879913]|not provided [RCV001254576] Chr9:78317684 [GRCh38]
Chr9:80932600 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp) single nucleotide variant Neu-Laxova syndrome 2 [RCV002568740]|not provided [RCV001254590] Chr9:78329067 [GRCh38]
Chr9:80943983 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys) single nucleotide variant PSAT deficiency [RCV001253800] Chr9:78306336 [GRCh38]
Chr9:80921252 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879886]|PSAT deficiency [RCV001336867]|not provided [RCV001254395] Chr9:78317728 [GRCh38]
Chr9:80932644 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.801G>C (p.Met267Ile) single nucleotide variant not provided [RCV001254399] Chr9:78317736 [GRCh38]
Chr9:80932652 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.925A>G (p.Asn309Asp) single nucleotide variant not provided [RCV001254407] Chr9:78328106 [GRCh38]
Chr9:80943022 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1106A>G (p.Gln369Arg) single nucleotide variant not provided [RCV001254414] Chr9:78329079 [GRCh38]
Chr9:80943995 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570560]|not provided [RCV001254435] Chr9:78302002 [GRCh38]
Chr9:80916918 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.179T>C (p.Val60Ala) single nucleotide variant not provided [RCV001254437] Chr9:78302011 [GRCh38]
Chr9:80916927 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.478G>A (p.Val160Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879895]|not provided [RCV001254450] Chr9:78306394 [GRCh38]
Chr9:80921310 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.814T>A (p.Ser272Thr) single nucleotide variant not provided [RCV001254466] Chr9:78317749 [GRCh38]
Chr9:80932665 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.956G>A (p.Arg319Lys) single nucleotide variant not provided [RCV001254475] Chr9:78328137 [GRCh38]
Chr9:80943053 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.988T>G (p.Leu330Val) single nucleotide variant not provided [RCV001254477] Chr9:78328169 [GRCh38]
Chr9:80943085 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879905]|not provided [RCV001254528] Chr9:78328052 [GRCh38]
Chr9:80942968 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.1039A>C (p.Asn347His) single nucleotide variant not provided [RCV001254535] Chr9:78329012 [GRCh38]
Chr9:80943928 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.129T>G (p.Ser43Arg) single nucleotide variant PSAT deficiency [RCV004004918]|not provided [RCV001254541] Chr9:78301961 [GRCh38]
Chr9:80916877 [GRCh37]
Chr9:9q21.2		 pathogenic|not provided
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879909]|not provided [RCV001254545] Chr9:78304784 [GRCh38]
Chr9:80919700 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879910]|not provided [RCV001254556] Chr9:78304929 [GRCh38]
Chr9:80919845 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.566C>G (p.Ser189Cys) single nucleotide variant not provided [RCV001254564] Chr9:78306482 [GRCh38]
Chr9:80921398 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.900G>C (p.Lys300Asn) single nucleotide variant not provided [RCV001254581] Chr9:78328081 [GRCh38]
Chr9:80942997 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570566]|PSAT deficiency [RCV003989659]|not provided [RCV001254583] Chr9:78328086 [GRCh38]
Chr9:80943002 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570567]|not provided [RCV001254584] Chr9:78329033 [GRCh38]
Chr9:80943949 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.1088A>C (p.Lys363Thr) single nucleotide variant not provided [RCV001254588] Chr9:78329061 [GRCh38]
Chr9:80943977 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.307G>T (p.Val103Leu) single nucleotide variant not provided [RCV001254377] Chr9:78304850 [GRCh38]
Chr9:80919766 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879884]|not provided [RCV001254384] Chr9:78306368 [GRCh38]
Chr9:80921284 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.629T>C (p.Val210Ala) single nucleotide variant not provided [RCV001254393] Chr9:78308472 [GRCh38]
Chr9:80923388 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.797C>T (p.Ala266Val) single nucleotide variant not provided [RCV001254397] Chr9:78317732 [GRCh38]
Chr9:80932648 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.806A>T (p.Lys269Met) single nucleotide variant not provided [RCV001254402] Chr9:78317741 [GRCh38]
Chr9:80932657 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.917G>T (p.Arg306Leu) single nucleotide variant not provided [RCV001254405] Chr9:78328098 [GRCh38]
Chr9:80943014 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.933A>C (p.Lys311Asn) single nucleotide variant not provided [RCV001254409] Chr9:78328114 [GRCh38]
Chr9:80943030 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879887]|not provided [RCV001254413] Chr9:78329076 [GRCh38]
Chr9:80943992 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.135G>T (p.Arg45Ser) single nucleotide variant not provided [RCV001254418] Chr9:78301967 [GRCh38]
Chr9:80916883 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879889]|not provided [RCV001254420] Chr9:78301974 [GRCh38]
Chr9:80916890 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879890]|not provided [RCV001254421] Chr9:78301983 [GRCh38]
Chr9:80916899 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570558]|not provided [RCV001254423] Chr9:78301985 [GRCh38]
Chr9:80916901 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.494T>C (p.Ile165Thr) single nucleotide variant not provided [RCV001254453] Chr9:78306410 [GRCh38]
Chr9:80921326 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.670T>C (p.Cys224Arg) single nucleotide variant not provided [RCV001254464] Chr9:78308513 [GRCh38]
Chr9:80923429 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.815C>G (p.Ser272Cys) single nucleotide variant not provided [RCV001254467] Chr9:78317750 [GRCh38]
Chr9:80932666 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1004A>G (p.His335Arg) single nucleotide variant not provided [RCV001254479] Chr9:78328185 [GRCh38]
Chr9:80943101 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879898]|not provided [RCV001254484] Chr9:78300635 [GRCh38]
Chr9:80915551 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.200C>T (p.Pro67Leu) single nucleotide variant not provided [RCV001254489] Chr9:78304743 [GRCh38]
Chr9:80919659 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.233G>C (p.Gly78Ala) single nucleotide variant not provided [RCV001254495] Chr9:78304776 [GRCh38]
Chr9:80919692 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.239G>A (p.Cys80Tyr) single nucleotide variant not provided [RCV001254496] Chr9:78304782 [GRCh38]
Chr9:80919698 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879903]|not provided [RCV001254523] Chr9:78317780 [GRCh38]
Chr9:80932696 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879906]|not provided [RCV001254529] Chr9:78328998 [GRCh38]
Chr9:80943914 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.109A>G (p.Ile37Val) single nucleotide variant not provided [RCV001254537] Chr9:78300650 [GRCh38]
Chr9:80915566 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.124A>G (p.Met42Val) single nucleotide variant not provided [RCV001254538] Chr9:78301956 [GRCh38]
Chr9:80916872 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.385G>T (p.Gly129Trp) single nucleotide variant not provided [RCV001254555] Chr9:78304928 [GRCh38]
Chr9:80919844 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.569A>T (p.Lys190Met) single nucleotide variant not provided [RCV001254565] Chr9:78306485 [GRCh38]
Chr9:80921401 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.616G>A (p.Gly206Arg) single nucleotide variant not provided [RCV001254391] Chr9:78308459 [GRCh38]
Chr9:80923375 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.637C>T (p.Arg213Cys) single nucleotide variant not provided [RCV001254394] Chr9:78308480 [GRCh38]
Chr9:80923396 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.801G>A (p.Met267Ile) single nucleotide variant not provided [RCV001254398] Chr9:78317736 [GRCh38]
Chr9:80932652 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879892]|not provided [RCV001254434] Chr9:78301998 [GRCh38]
Chr9:80916914 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.316G>T (p.Ala106Ser) single nucleotide variant not provided [RCV001254442] Chr9:78304859 [GRCh38]
Chr9:80919775 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.509G>C (p.Gly170Ala) single nucleotide variant not provided [RCV001254455] Chr9:78306425 [GRCh38]
Chr9:80921341 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro) single nucleotide variant Neu-Laxova syndrome 2 [RCV001349898]|not provided [RCV001254456] Chr9:78306427 [GRCh38]
Chr9:80921343 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570561]|not provided [RCV001254458] Chr9:78308492 [GRCh38]
Chr9:80923408 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.650T>C (p.Leu217Pro) single nucleotide variant not provided [RCV001254459] Chr9:78308493 [GRCh38]
Chr9:80923409 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.530T>C (p.Met177Thr) single nucleotide variant not provided [RCV001254508] Chr9:78306446 [GRCh38]
Chr9:80921362 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.531G>A (p.Met177Ile) single nucleotide variant not provided [RCV001254509] Chr9:78306447 [GRCh38]
Chr9:80921363 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.673C>G (p.Pro225Ala) single nucleotide variant not provided [RCV001254513] Chr9:78308516 [GRCh38]
Chr9:80923432 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.694G>A (p.Val232Met) single nucleotide variant not provided [RCV001254516] Chr9:78308537 [GRCh38]
Chr9:80923453 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.841A>T (p.Ile281Phe) single nucleotide variant not provided [RCV001254522] Chr9:78317776 [GRCh38]
Chr9:80932692 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570564]|not provided [RCV001254553] Chr9:78304919 [GRCh38]
Chr9:80919835 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.382C>T (p.Leu128Phe) single nucleotide variant not provided [RCV001254554] Chr9:78304925 [GRCh38]
Chr9:80919841 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.429C>A (p.Asn143Lys) single nucleotide variant not provided [RCV001254559] Chr9:78306345 [GRCh38]
Chr9:80921261 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.541T>A (p.Phe181Ile) single nucleotide variant not provided [RCV001254563] Chr9:78306457 [GRCh38]
Chr9:80921373 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.573T>A (p.Phe191Leu) single nucleotide variant not provided [RCV001254567] Chr9:78308416 [GRCh38]
Chr9:80923332 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.709A>G (p.Ser237Gly) single nucleotide variant not provided [RCV001254569] Chr9:78308552 [GRCh38]
Chr9:80923468 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879911]|not provided [RCV001254571] Chr9:78308568 [GRCh38]
Chr9:80923484 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.877G>A (p.Val293Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879914]|not provided [RCV001254577] Chr9:78328058 [GRCh38]
Chr9:80942974 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.900G>T (p.Lys300Asn) single nucleotide variant not provided [RCV001254582] Chr9:78328081 [GRCh38]
Chr9:80942997 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1081A>C (p.Met361Leu) single nucleotide variant not provided [RCV001254586] Chr9:78329054 [GRCh38]
Chr9:80943970 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1081A>T (p.Met361Leu) single nucleotide variant not provided [RCV001254587] Chr9:78329054 [GRCh38]
Chr9:80943970 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.322T>C (p.Ser108Pro) single nucleotide variant not provided [RCV001254443] Chr9:78304865 [GRCh38]
Chr9:80919781 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.493A>C (p.Ile165Leu) single nucleotide variant not provided [RCV001254451] Chr9:78306409 [GRCh38]
Chr9:80921325 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.653G>A (p.Gly218Glu) single nucleotide variant not provided [RCV001254460] Chr9:78308496 [GRCh38]
Chr9:80923412 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.662T>C (p.Leu221Pro) single nucleotide variant not provided [RCV001254461] Chr9:78308505 [GRCh38]
Chr9:80923421 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.668A>C (p.Glu223Ala) single nucleotide variant not provided [RCV001254463] Chr9:78308511 [GRCh38]
Chr9:80923427 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.937G>C (p.Asp313His) single nucleotide variant not provided [RCV001254473] Chr9:78328118 [GRCh38]
Chr9:80943034 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.952A>G (p.Lys318Glu) single nucleotide variant not provided [RCV001254474] Chr9:78328133 [GRCh38]
Chr9:80943049 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.997A>C (p.Lys333Gln) single nucleotide variant not provided [RCV001254478] Chr9:78328178 [GRCh38]
Chr9:80943094 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.65T>G (p.Leu22Trp) single nucleotide variant not provided [RCV001254481] Chr9:78300606 [GRCh38]
Chr9:80915522 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.203A>G (p.Asp68Gly) single nucleotide variant not provided [RCV001254490] Chr9:78304746 [GRCh38]
Chr9:80919662 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570563]|not provided [RCV001254499] Chr9:78304891 [GRCh38]
Chr9:80919807 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879901]|not provided [RCV001254504] Chr9:78304916 [GRCh38]
Chr9:80919832 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.514G>C (p.Val172Leu) single nucleotide variant not provided [RCV001254505] Chr9:78306430 [GRCh38]
Chr9:80921346 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.514G>T (p.Val172Leu) single nucleotide variant not provided [RCV001254506] Chr9:78306430 [GRCh38]
Chr9:80921346 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.531G>C (p.Met177Ile) single nucleotide variant not provided [RCV001254510] Chr9:78306447 [GRCh38]
Chr9:80921363 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.697C>A (p.Gln233Lys) single nucleotide variant not provided [RCV001254518] Chr9:78308540 [GRCh38]
Chr9:80923456 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.854C>A (p.Ser285Tyr) single nucleotide variant not provided [RCV001254525] Chr9:78317789 [GRCh38]
Chr9:80932705 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1027G>T (p.Ala343Ser) single nucleotide variant not provided [RCV001254531] Chr9:78329000 [GRCh38]
Chr9:80943916 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.1036T>C (p.Tyr346His) single nucleotide variant not provided [RCV001254533] Chr9:78329009 [GRCh38]
Chr9:80943925 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.135G>C (p.Arg45Ser) single nucleotide variant not provided [RCV001254544] Chr9:78301967 [GRCh38]
Chr9:80916883 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.251G>A (p.Ser84Asn) single nucleotide variant not provided [RCV001254546] Chr9:78304794 [GRCh38]
Chr9:80919710 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.259C>T (p.Pro87Ser) single nucleotide variant not provided [RCV001254547] Chr9:78304802 [GRCh38]
Chr9:80919718 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.540C>A (p.Asn180Lys) single nucleotide variant not provided [RCV001254561] Chr9:78306456 [GRCh38]
Chr9:80921372 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.748G>C (p.Val250Leu) single nucleotide variant not provided [RCV001254575] Chr9:78317683 [GRCh38]
Chr9:80932599 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570565]|not provided [RCV001254580] Chr9:78328070 [GRCh38]
Chr9:80942986 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.304G>A (p.Val102Met) single nucleotide variant not provided [RCV001254374] Chr9:78304847 [GRCh38]
Chr9:80919763 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.307G>A (p.Val103Met) single nucleotide variant not provided [RCV001254375] Chr9:78304850 [GRCh38]
Chr9:80919766 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.926A>G (p.Asn309Ser) single nucleotide variant not provided [RCV001254408] Chr9:78328107 [GRCh38]
Chr9:80943023 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879891]|not provided [RCV001254428] Chr9:78297217 [GRCh38]
Chr9:80912133 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.164A>G (p.Asn55Ser) single nucleotide variant not provided [RCV001254433] Chr9:78301996 [GRCh38]
Chr9:80916912 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV003120509]|not provided [RCV001254436] Chr9:78302005 [GRCh38]
Chr9:80916921 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.182G>T (p.Arg61Leu) single nucleotide variant not provided [RCV001254440] Chr9:78302014 [GRCh38]
Chr9:80916930 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.316G>A (p.Ala106Thr) single nucleotide variant not provided [RCV001254441] Chr9:78304859 [GRCh38]
Chr9:80919775 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879893]|not provided [RCV001254447] Chr9:78304877 [GRCh38]
Chr9:80919793 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.638G>A (p.Arg213His) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879896]|not provided [RCV001254457] Chr9:78308481 [GRCh38]
Chr9:80923397 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.808C>T (p.Leu270Phe) single nucleotide variant not provided [RCV001254465] Chr9:78317743 [GRCh38]
Chr9:80932659 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570562]|not provided [RCV001254470] Chr9:78317761 [GRCh38]
Chr9:80932677 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.73A>G (p.Ile25Val) single nucleotide variant not provided [RCV001254482] Chr9:78300614 [GRCh38]
Chr9:80915530 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.341A>C (p.Glu114Ala) single nucleotide variant not provided [RCV001254498] Chr9:78304884 [GRCh38]
Chr9:80919800 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879902]|PSAT deficiency [RCV001332783]|not provided [RCV001254514] Chr9:78308520 [GRCh38]
Chr9:80923436 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.840G>T (p.Glu280Asp) single nucleotide variant not provided [RCV001254521] Chr9:78317775 [GRCh38]
Chr9:80932691 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.290G>A (p.Arg97Lys) single nucleotide variant not provided [RCV001254552] Chr9:78304833 [GRCh38]
Chr9:80919749 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.429C>G (p.Asn143Lys) single nucleotide variant not provided [RCV001254560] Chr9:78306345 [GRCh38]
Chr9:80921261 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.540C>G (p.Asn180Lys) single nucleotide variant not provided [RCV001254562] Chr9:78306456 [GRCh38]
Chr9:80921372 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.571T>C (p.Phe191Leu) single nucleotide variant not provided [RCV001254566] Chr9:78308414 [GRCh38]
Chr9:80923330 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.887A>C (p.Gln296Pro) single nucleotide variant not provided [RCV001254579] Chr9:78328068 [GRCh38]
Chr9:80942984 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.955dup (p.Arg319fs) duplication PSAT deficiency [RCV001253801] Chr9:78328130..78328131 [GRCh38]
Chr9:80943046..80943047 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr) single nucleotide variant Neu-Laxova syndrome 2 [RCV002570557]|not provided [RCV001254371] Chr9:78304836 [GRCh38]
Chr9:80919752 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.439T>G (p.Ser147Ala) single nucleotide variant not provided [RCV001254380] Chr9:78306355 [GRCh38]
Chr9:80921271 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001879885]|not provided [RCV001254385] Chr9:78306373 [GRCh38]
Chr9:80921289 [GRCh37]
Chr9:9q21.2		 uncertain significance|not provided
NM_058179.4(PSAT1):c.610T>G (p.Ser204Ala) single nucleotide variant not provided [RCV001254390] Chr9:78308453 [GRCh38]
Chr9:80923369 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.616G>C (p.Gly206Arg) single nucleotide variant not provided [RCV001254392] Chr9:78308459 [GRCh38]
Chr9:80923375 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.919A>G (p.Ile307Val) single nucleotide variant not provided [RCV001254406] Chr9:78328100 [GRCh38]
Chr9:80943016 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.163A>G (p.Asn55Asp) single nucleotide variant not provided [RCV001254425] Chr9:78301995 [GRCh38]
Chr9:80916911 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.62T>G (p.Val21Gly) single nucleotide variant not provided [RCV001254432] Chr9:78300603 [GRCh38]
Chr9:80915519 [GRCh37]
Chr9:9q21.2		 not provided
NM_058179.4(PSAT1):c.456C>T (p.Cys152=) single nucleotide variant Neu-Laxova syndrome 2 [RCV001412227]|PSAT1-related condition [RCV003963303] Chr9:78306372 [GRCh38]
Chr9:80921288 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.398-85C>T single nucleotide variant not provided [RCV001688357] Chr9:78306229 [GRCh38]
Chr9:80921145 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.571-283G>A single nucleotide variant not provided [RCV001686202] Chr9:78308131 [GRCh38]
Chr9:80923047 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.741-18T>A single nucleotide variant Neu-Laxova syndrome 2 [RCV001511653]|PSAT deficiency [RCV001789395]|not provided [RCV001638101] Chr9:78317658 [GRCh38]
Chr9:80932574 [GRCh37]
Chr9:9q21.2		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_058179.4(PSAT1):c.571-6T>C single nucleotide variant Neu-Laxova syndrome 2 [RCV001988275] Chr9:78308408 [GRCh38]
Chr9:80923324 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_058179.4(PSAT1):c.865T>C (p.Tyr289His) single nucleotide variant Neu-Laxova syndrome 2 [RCV001895981] Chr9:78317800 [GRCh38]
Chr9:80932716 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.122-1G>C single nucleotide variant Neu-Laxova syndrome 2 [RCV002045140] Chr9:78301953 [GRCh38]
Chr9:80916869 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_058179.4(PSAT1):c.211A>G (p.Lys71Glu) single nucleotide variant Neu-Laxova syndrome 2 [RCV001967315] Chr9:78304754 [GRCh38]
Chr9:80919670 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.251G>T (p.Ser84Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV001988307] Chr9:78304794 [GRCh38]
Chr9:80919710 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.407A>C (p.Asp136Ala) single nucleotide variant Neu-Laxova syndrome 2 [RCV001988161] Chr9:78306323 [GRCh38]
Chr9:80921239 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.740+3A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002024456] Chr9:78308586 [GRCh38]
Chr9:80923502 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.118C>G (p.Leu40Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001984019] Chr9:78300659 [GRCh38]
Chr9:80915575 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV001928672] Chr9:78297253 [GRCh38]
Chr9:80912169 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.175C>G (p.Leu59Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001966381] Chr9:78302007 [GRCh38]
Chr9:80916923 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV001966488] Chr9:78328157 [GRCh38]
Chr9:80943073 [GRCh37]
Chr9:9q21.2		 likely pathogenic|uncertain significance
NM_058179.4(PSAT1):c.192-14A>C single nucleotide variant Neu-Laxova syndrome 2 [RCV001946936] Chr9:78304721 [GRCh38]
Chr9:80919637 [GRCh37]
Chr9:9q21.2		 likely benign
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_058179.4(PSAT1):c.741-18_741-17delinsAC indel Neu-Laxova syndrome 2 [RCV001968277] Chr9:78317658..78317659 [GRCh38]
Chr9:80932574..80932575 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.866A>C (p.Tyr289Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV001889650] Chr9:78317801 [GRCh38]
Chr9:80932717 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_058179.4(PSAT1):c.1008-3T>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002039562] Chr9:78328978 [GRCh38]
Chr9:80943894 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:80833575-80973771) copy number gain not specified [RCV002053861] Chr9:80833575..80973771 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.473A>G (p.His158Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001913528] Chr9:78306389 [GRCh38]
Chr9:80921305 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.233G>T (p.Gly78Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001892200] Chr9:78304776 [GRCh38]
Chr9:80919692 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.164A>T (p.Asn55Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV002002631] Chr9:78301996 [GRCh38]
Chr9:80916912 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.60+20C>T single nucleotide variant Neu-Laxova syndrome 2 [RCV001966360] Chr9:78297290 [GRCh38]
Chr9:80912206 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.452A>T (p.Tyr151Phe) single nucleotide variant Neu-Laxova syndrome 2 [RCV001991400] Chr9:78306368 [GRCh38]
Chr9:80921284 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.731C>T (p.Pro244Leu) single nucleotide variant Neu-Laxova syndrome 2 [RCV002000981] Chr9:78308574 [GRCh38]
Chr9:80923490 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1007+5G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV001923913] Chr9:78328193 [GRCh38]
Chr9:80943109 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1088A>T (p.Lys363Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV001903130] Chr9:78329061 [GRCh38]
Chr9:80943977 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.11:g.(?_80912127)_(80944002_?)dup duplication Neu-Laxova syndrome 2 [RCV001919152] Chr9:80912127..80944002 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.835T>C (p.Tyr279His) single nucleotide variant Neu-Laxova syndrome 2 [RCV002015598] Chr9:78317770 [GRCh38]
Chr9:80932686 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.444C>G (p.Tyr148Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV001972869] Chr9:78306360 [GRCh38]
Chr9:80921276 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.570+2_570+15del deletion Neu-Laxova syndrome 2 [RCV002046923] Chr9:78306484..78306497 [GRCh38]
Chr9:80921400..80921413 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_058179.4(PSAT1):c.1033_1034del (p.Leu345fs) microsatellite Neu-Laxova syndrome 2 [RCV001978096] Chr9:78329002..78329003 [GRCh38]
Chr9:80943918..80943919 [GRCh37]
Chr9:9q21.2		 uncertain significance
NC_000009.11:g.(?_80919631)_(80923519_?)del deletion Neu-Laxova syndrome 2 [RCV002029708] Chr9:80919631..80923519 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_058179.4(PSAT1):c.777A>T (p.Lys259Asn) single nucleotide variant Neu-Laxova syndrome 2 [RCV001932970] Chr9:78317712 [GRCh38]
Chr9:80932628 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.664C>T (p.Arg222Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV001901588] Chr9:78308507 [GRCh38]
Chr9:80923423 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.1012G>A (p.Val338Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV001916768] Chr9:78328985 [GRCh38]
Chr9:80943901 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.571-1G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002017210] Chr9:78308413 [GRCh38]
Chr9:80923329 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NC_000009.11:g.(?_80915498)_(80916959_?)del deletion Neu-Laxova syndrome 2 [RCV001972513] Chr9:80915498..80916959 [GRCh37]
Chr9:9q21.2		 pathogenic
NC_000009.11:g.(?_79792621)_(80944002_?)del deletion Neu-Laxova syndrome 2 [RCV001953529] Chr9:79792621..80944002 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.260C>A (p.Pro87His) single nucleotide variant Neu-Laxova syndrome 2 [RCV001939130] Chr9:78304803 [GRCh38]
Chr9:80919719 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.80A>G (p.Lys27Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV001905285] Chr9:78300621 [GRCh38]
Chr9:80915537 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.155T>C (p.Ile52Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV002034902] Chr9:78301987 [GRCh38]
Chr9:80916903 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.741-3T>A single nucleotide variant Neu-Laxova syndrome 2 [RCV001934783] Chr9:78317673 [GRCh38]
Chr9:80932589 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.838G>T (p.Glu280Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV001939663] Chr9:78317773 [GRCh38]
Chr9:80932689 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.704G>T (p.Gly235Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV001897388] Chr9:78308547 [GRCh38]
Chr9:80923463 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.868G>T (p.Val290Phe) single nucleotide variant Neu-Laxova syndrome 2 [RCV001931079] Chr9:78317803 [GRCh38]
Chr9:80932719 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.624C>G (p.Thr208=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002110696] Chr9:78308467 [GRCh38]
Chr9:80923383 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.570+13A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002167211] Chr9:78306499 [GRCh38]
Chr9:80921415 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1005T>C (p.His335=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002205321] Chr9:78328186 [GRCh38]
Chr9:80943102 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.33G>T (p.Gly11=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002084595] Chr9:78297243 [GRCh38]
Chr9:80912159 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.60+20C>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002127036] Chr9:78297290 [GRCh38]
Chr9:80912206 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.162C>T (p.Asn54=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002126249] Chr9:78301994 [GRCh38]
Chr9:80916910 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.291G>A (p.Arg97=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002126337] Chr9:78304834 [GRCh38]
Chr9:80919750 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.498C>T (p.Pro166=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002110857] Chr9:78306414 [GRCh38]
Chr9:80921330 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.121+16G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002190396] Chr9:78300678 [GRCh38]
Chr9:80915594 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.122-9C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002174750] Chr9:78301945 [GRCh38]
Chr9:80916861 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.398-9C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002114606] Chr9:78306305 [GRCh38]
Chr9:80921221 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.741-7A>C single nucleotide variant Neu-Laxova syndrome 2 [RCV002215074] Chr9:78317669 [GRCh38]
Chr9:80932585 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.240C>T (p.Cys80=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002095881] Chr9:78304783 [GRCh38]
Chr9:80919699 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.571-19A>T single nucleotide variant Neu-Laxova syndrome 2 [RCV002112140] Chr9:78308395 [GRCh38]
Chr9:80923311 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.398-19A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002193274] Chr9:78306295 [GRCh38]
Chr9:80921211 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.198T>A (p.Val66=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002079550] Chr9:78304741 [GRCh38]
Chr9:80919657 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.741-7A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002079486] Chr9:78317669 [GRCh38]
Chr9:80932585 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.867C>T (p.Tyr289=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002192903] Chr9:78317802 [GRCh38]
Chr9:80932718 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.870-16T>C single nucleotide variant Neu-Laxova syndrome 2 [RCV002130816] Chr9:78328035 [GRCh38]
Chr9:80942951 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.720C>T (p.Tyr240=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002132635] Chr9:78308563 [GRCh38]
Chr9:80923479 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.447G>A (p.Val149=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002212199] Chr9:78306363 [GRCh38]
Chr9:80921279 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.297T>A (p.Ala99=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002095182] Chr9:78304840 [GRCh38]
Chr9:80919756 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.571-11C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002131409] Chr9:78308403 [GRCh38]
Chr9:80923319 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.191+20A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002121243] Chr9:78302043 [GRCh38]
Chr9:80916959 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.869+17dup duplication Neu-Laxova syndrome 2 [RCV002100557] Chr9:78317817..78317818 [GRCh38]
Chr9:80932733..80932734 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.261C>T (p.Pro87=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002163817] Chr9:78304804 [GRCh38]
Chr9:80919720 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.122-17T>C single nucleotide variant Neu-Laxova syndrome 2 [RCV002160764] Chr9:78301937 [GRCh38]
Chr9:80916853 [GRCh37]
Chr9:9q21.2		 benign
NM_058179.4(PSAT1):c.740+10G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002162784] Chr9:78308593 [GRCh38]
Chr9:80923509 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.669G>A (p.Glu223=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002157625] Chr9:78308512 [GRCh38]
Chr9:80923428 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.516A>G (p.Val172=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002135906] Chr9:78306432 [GRCh38]
Chr9:80921348 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1007+16A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002120082] Chr9:78328204 [GRCh38]
Chr9:80943120 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.61-17C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002198586] Chr9:78300585 [GRCh38]
Chr9:80915501 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.9C>T (p.Ala3=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002203782] Chr9:78297219 [GRCh38]
Chr9:80912135 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.60+9C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002138381] Chr9:78297279 [GRCh38]
Chr9:80912195 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.398-12C>T single nucleotide variant Neu-Laxova syndrome 2 [RCV002140208] Chr9:78306302 [GRCh38]
Chr9:80921218 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.225G>T (p.Leu75=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002158257] Chr9:78304768 [GRCh38]
Chr9:80919684 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.879G>A (p.Val293=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002183396] Chr9:78328060 [GRCh38]
Chr9:80942976 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.60+8C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002184752] Chr9:78297278 [GRCh38]
Chr9:80912194 [GRCh37]
Chr9:9q21.2		 likely benign
NC_000009.11:g.(?_80921210)_(80923519_?)del deletion Neu-Laxova syndrome 2 [RCV003123001] Chr9:80921210..80923519 [GRCh37]
Chr9:9q21.2		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_058179.4(PSAT1):c.679G>T (p.Val227Phe) single nucleotide variant Neu-Laxova syndrome 2 [RCV002296942] Chr9:78308522 [GRCh38]
Chr9:80923438 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1004A>T (p.His335Leu) single nucleotide variant Neu-Laxova syndrome 2 [RCV002470614] Chr9:78328185 [GRCh38]
Chr9:80943101 [GRCh37]
Chr9:9q21.2		 uncertain significance
GRCh37/hg19 9q21.2(chr9:80582026-80948266)x3 copy number gain not provided [RCV002474803] Chr9:80582026..80948266 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1100T>C (p.Met367Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV002298110] Chr9:78329073 [GRCh38]
Chr9:80943989 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.800T>C (p.Met267Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV003012314] Chr9:78317735 [GRCh38]
Chr9:80932651 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.649C>T (p.Leu217=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002730707] Chr9:78308492 [GRCh38]
Chr9:80923408 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.510_514del (p.Ala171fs) deletion Neu-Laxova syndrome 2 [RCV003033065] Chr9:78306425..78306429 [GRCh38]
Chr9:80921341..80921345 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.589G>C (p.Gly197Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV003015570] Chr9:78308432 [GRCh38]
Chr9:80923348 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.892A>T (p.Arg298Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV003013390] Chr9:78328073 [GRCh38]
Chr9:80942989 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly) single nucleotide variant Neu-Laxova syndrome 2 [RCV002751004] Chr9:78300633 [GRCh38]
Chr9:80915549 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.150C>T (p.Ala50=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002686388] Chr9:78301982 [GRCh38]
Chr9:80916898 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1007+11C>T single nucleotide variant Neu-Laxova syndrome 2 [RCV002776468] Chr9:78328199 [GRCh38]
Chr9:80943115 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.228del (p.Gly77fs) deletion Neu-Laxova syndrome 2 [RCV003016652] Chr9:78304770 [GRCh38]
Chr9:80919686 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.625G>A (p.Val209Met) single nucleotide variant Neu-Laxova syndrome 2 [RCV003011924] Chr9:78308468 [GRCh38]
Chr9:80923384 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.60+10C>T single nucleotide variant Neu-Laxova syndrome 2 [RCV002885496] Chr9:78297280 [GRCh38]
Chr9:80912196 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.333C>T (p.Ala111=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002928032] Chr9:78304876 [GRCh38]
Chr9:80919792 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.357G>A (p.Gly119=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003039491] Chr9:78304900 [GRCh38]
Chr9:80919816 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.869+11G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002846965] Chr9:78317815 [GRCh38]
Chr9:80932731 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.687A>G (p.Glu229=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003020100] Chr9:78308530 [GRCh38]
Chr9:80923446 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1008-18G>C single nucleotide variant Neu-Laxova syndrome 2 [RCV002976456] Chr9:78328963 [GRCh38]
Chr9:80943879 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.148G>T (p.Ala50Ser) single nucleotide variant Inborn genetic diseases [RCV002925711] Chr9:78301980 [GRCh38]
Chr9:80916896 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV002953061]|PSAT1-Related Disorders [RCV003230758] Chr9:78328130 [GRCh38]
Chr9:80943046 [GRCh37]
Chr9:9q21.2		 pathogenic|likely pathogenic
NM_058179.4(PSAT1):c.382C>G (p.Leu128Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV002927625] Chr9:78304925 [GRCh38]
Chr9:80919841 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.624C>T (p.Thr208=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002780631] Chr9:78308467 [GRCh38]
Chr9:80923383 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.435T>C (p.Asp145=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002927208] Chr9:78306351 [GRCh38]
Chr9:80921267 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.82_83del (p.Glu28fs) deletion Neu-Laxova syndrome 2 [RCV002952911] Chr9:78300623..78300624 [GRCh38]
Chr9:80915539..80915540 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.122-9_122-5del microsatellite Neu-Laxova syndrome 2 [RCV002790394] Chr9:78301940..78301944 [GRCh38]
Chr9:80916856..80916860 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.49C>T (p.Leu17=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002801026] Chr9:78297259 [GRCh38]
Chr9:80912175 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.358A>G (p.Thr120Ala) single nucleotide variant Neu-Laxova syndrome 2 [RCV002791523] Chr9:78304901 [GRCh38]
Chr9:80919817 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.328A>G (p.Lys110Glu) single nucleotide variant Neu-Laxova syndrome 2 [RCV002801596] Chr9:78304871 [GRCh38]
Chr9:80919787 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.618G>A (p.Gly206=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003006155] Chr9:78308461 [GRCh38]
Chr9:80923377 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1007+12T>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002624183] Chr9:78328200 [GRCh38]
Chr9:80943116 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.957A>G (p.Arg319=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003058106] Chr9:78328138 [GRCh38]
Chr9:80943054 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.866A>G (p.Tyr289Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV002710247] Chr9:78317801 [GRCh38]
Chr9:80932717 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.37G>A (p.Gly13Ser) single nucleotide variant Neu-Laxova syndrome 2 [RCV003042821] Chr9:78297247 [GRCh38]
Chr9:80912163 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.741-19_741-18insA insertion Neu-Laxova syndrome 2 [RCV002623552] Chr9:78317657..78317658 [GRCh38]
Chr9:80932573..80932574 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.600G>A (p.Lys200=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002801400] Chr9:78308443 [GRCh38]
Chr9:80923359 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.570+4G>A single nucleotide variant Neu-Laxova syndrome 2 [RCV003082931] Chr9:78306490 [GRCh38]
Chr9:80921406 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1020C>T (p.Gly340=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003006503] Chr9:78328993 [GRCh38]
Chr9:80943909 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1110A>C (p.Leu370=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002805474] Chr9:78329083 [GRCh38]
Chr9:80943999 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1024C>T (p.Arg342Trp) single nucleotide variant Neu-Laxova syndrome 2 [RCV002632915] Chr9:78328997 [GRCh38]
Chr9:80943913 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.747C>T (p.Tyr249=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002650735] Chr9:78317682 [GRCh38]
Chr9:80932598 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.816C>T (p.Ser272=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002937786] Chr9:78317751 [GRCh38]
Chr9:80932667 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.135G>A (p.Arg45=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002598393] Chr9:78301967 [GRCh38]
Chr9:80916883 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.745T>C (p.Tyr249His) single nucleotide variant Neu-Laxova syndrome 2 [RCV002671796] Chr9:78317680 [GRCh38]
Chr9:80932596 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.192-16C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002937449] Chr9:78304719 [GRCh38]
Chr9:80919635 [GRCh37]
Chr9:9q21.2		 likely benign|uncertain significance
NM_058179.4(PSAT1):c.614C>T (p.Ala205Val) single nucleotide variant Neu-Laxova syndrome 2 [RCV003010210] Chr9:78308457 [GRCh38]
Chr9:80923373 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.869+12G>C single nucleotide variant Neu-Laxova syndrome 2 [RCV002579868] Chr9:78317816 [GRCh38]
Chr9:80932732 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.713C>G (p.Ser238Cys) single nucleotide variant Neu-Laxova syndrome 2 [RCV002791828] Chr9:78308556 [GRCh38]
Chr9:80923472 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.43_60+9del deletion Neu-Laxova syndrome 2 [RCV003060182] Chr9:78297248..78297274 [GRCh38]
Chr9:80912164..80912190 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_058179.4(PSAT1):c.502G>A (p.Val168Ile) single nucleotide variant Neu-Laxova syndrome 2 [RCV003049660] Chr9:78306418 [GRCh38]
Chr9:80921334 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.870-15A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV002583455] Chr9:78328036 [GRCh38]
Chr9:80942952 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.592G>A (p.Ala198Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV002605938] Chr9:78308435 [GRCh38]
Chr9:80923351 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1008-20T>A single nucleotide variant Neu-Laxova syndrome 2 [RCV002607643] Chr9:78328961 [GRCh38]
Chr9:80943877 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.1008-17A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV003073376] Chr9:78328964 [GRCh38]
Chr9:80943880 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.444C>T (p.Tyr148=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002588725]|not provided [RCV003312078] Chr9:78306360 [GRCh38]
Chr9:80921276 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.726G>T (p.Thr242=) single nucleotide variant Neu-Laxova syndrome 2 [RCV002609360] Chr9:78308569 [GRCh38]
Chr9:80923485 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.425T>G (p.Leu142Arg) single nucleotide variant Neu-Laxova syndrome 2 [RCV002582847] Chr9:78306341 [GRCh38]
Chr9:80921257 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.413del (p.Ser138fs) deletion Neu-Laxova syndrome 2 [RCV003748487]|PSAT1-Related Disorders [RCV003331902] Chr9:78306329 [GRCh38]
Chr9:80921245 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr) single nucleotide variant Neu-Laxova syndrome 2 [RCV003777339] Chr9:78308583 [GRCh38]
Chr9:80923499 [GRCh37]
Chr9:9q21.2		 likely pathogenic
NM_058179.4(PSAT1):c.501T>C (p.Asp167=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003830692] Chr9:78306417 [GRCh38]
Chr9:80921333 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.645C>T (p.Asp215=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003828640] Chr9:78308488 [GRCh38]
Chr9:80923404 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.741-8C>G single nucleotide variant Neu-Laxova syndrome 2 [RCV003828296] Chr9:78317668 [GRCh38]
Chr9:80932584 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.108C>T (p.Gly36=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003749717] Chr9:78300649 [GRCh38]
Chr9:80915565 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.192-17C>T single nucleotide variant Neu-Laxova syndrome 2 [RCV003811393] Chr9:78304718 [GRCh38]
Chr9:80919634 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.571-15C>A single nucleotide variant Neu-Laxova syndrome 2 [RCV003749117] Chr9:78308399 [GRCh38]
Chr9:80923315 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.294T>C (p.Cys98=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003750006] Chr9:78304837 [GRCh38]
Chr9:80919753 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.869+8A>C single nucleotide variant Neu-Laxova syndrome 2 [RCV003750014] Chr9:78317812 [GRCh38]
Chr9:80932728 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.660C>G (p.Ala220=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003586469] Chr9:78308503 [GRCh38]
Chr9:80923419 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.54G>T (p.Pro18=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003749186] Chr9:78297264 [GRCh38]
Chr9:80912180 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.543C>T (p.Phe181=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003749330] Chr9:78306459 [GRCh38]
Chr9:80921375 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.861A>T (p.Gly287=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003750133] Chr9:78317796 [GRCh38]
Chr9:80932712 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.99A>G (p.Lys33=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003850478] Chr9:78300640 [GRCh38]
Chr9:80915556 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1050A>G (p.Thr350=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003810991] Chr9:78329023 [GRCh38]
Chr9:80943939 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.122-15T>C single nucleotide variant Neu-Laxova syndrome 2 [RCV003588037] Chr9:78301939 [GRCh38]
Chr9:80916855 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.267C>T (p.Asn89=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003588059] Chr9:78304810 [GRCh38]
Chr9:80919726 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.762T>C (p.Val254=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003587243] Chr9:78317697 [GRCh38]
Chr9:80932613 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1071G>A (p.Leu357=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003587548] Chr9:78329044 [GRCh38]
Chr9:80943960 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.357del (p.Thr120fs) deletion Neu-Laxova syndrome 2 [RCV003587095] Chr9:78304898 [GRCh38]
Chr9:80919814 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.191+8T>A single nucleotide variant Neu-Laxova syndrome 2 [RCV003748176] Chr9:78302031 [GRCh38]
Chr9:80916947 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1008-16T>C single nucleotide variant Neu-Laxova syndrome 2 [RCV003748603] Chr9:78328965 [GRCh38]
Chr9:80943881 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV003843829] Chr9:78300617 [GRCh38]
Chr9:80915533 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.912A>G (p.Pro304=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003748783] Chr9:78328093 [GRCh38]
Chr9:80943009 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1026G>A (p.Arg342=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003748862] Chr9:78328999 [GRCh38]
Chr9:80943915 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1002G>A (p.Gly334=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003587656] Chr9:78328183 [GRCh38]
Chr9:80943099 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.1008-7A>G single nucleotide variant Neu-Laxova syndrome 2 [RCV003587993] Chr9:78328974 [GRCh38]
Chr9:80943890 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.770G>A (p.Trp257Ter) single nucleotide variant Neu-Laxova syndrome 2 [RCV003586619] Chr9:78317705 [GRCh38]
Chr9:80932621 [GRCh37]
Chr9:9q21.2		 pathogenic
NM_058179.4(PSAT1):c.324A>C (p.Ser108=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003820784] Chr9:78304867 [GRCh38]
Chr9:80919783 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.177T>A (p.Leu59=) single nucleotide variant Neu-Laxova syndrome 2 [RCV003586899] Chr9:78302009 [GRCh38]
Chr9:80916925 [GRCh37]
Chr9:9q21.2		 likely benign
NM_058179.4(PSAT1):c.292T>C (p.Cys98Arg) single nucleotide variant Inborn genetic diseases [RCV004513035] Chr9:78304835 [GRCh38]
Chr9:80919751 [GRCh37]
Chr9:9q21.2		 uncertain significance
NM_058179.4(PSAT1):c.570+2T>C single nucleotide variant PSAT1-Related Disorders [RCV003994858] Chr9:78306488 [GRCh38]
Chr9:80921404 [GRCh37]
Chr9:9q21.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:515
Count of miRNA genes:313
Interacting mature miRNAs:336
Transcripts:ENST00000347159, ENST00000376588
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
G19639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,944,778 - 80,944,898UniSTSGRCh37
Build 36980,134,598 - 80,134,718RGDNCBI36
Celera951,522,053 - 51,522,173RGD
Cytogenetic Map9q21.2UniSTS
HuRef950,775,775 - 50,775,895UniSTS
RH66326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,944,694 - 80,944,838UniSTSGRCh37
Build 36980,134,514 - 80,134,658RGDNCBI36
Celera951,521,969 - 51,522,113RGD
Cytogenetic Map9q21.2UniSTS
HuRef950,775,691 - 50,775,835UniSTS
RH66846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37980,944,778 - 80,944,898UniSTSGRCh37
Build 36980,134,598 - 80,134,718RGDNCBI36
Celera951,522,053 - 51,522,173RGD
Cytogenetic Map9q21.2UniSTS
HuRef177,652,222 - 77,652,345UniSTS
HuRef950,775,775 - 50,775,895UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3 1 7 42 5 2 15 6
Medium 627 147 1172 576 767 445 2255 118 3532 302 901 767 142 263 1304 2 1
Low 1802 2480 552 47 1050 18 1389 1236 200 115 539 832 33 1 926 827 3 1
Below cutoff 4 360 1 1 121 2 665 830 2 3 8 15 651

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_058179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF113132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY131232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC300904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC332195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU257144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000347159   ⟹   ENSP00000317606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,297,143 - 78,329,454 (+)Ensembl
RefSeq Acc Id: ENST00000376588   ⟹   ENSP00000365773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl978,297,125 - 78,330,093 (+)Ensembl
RefSeq Acc Id: NM_021154   ⟹   NP_066977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,297,125 - 78,330,093 (+)NCBI
GRCh37980,911,991 - 80,945,009 (+)NCBI
Build 36980,101,879 - 80,134,829 (+)NCBI Archive
Celera951,489,329 - 51,522,284 (+)RGD
HuRef950,743,076 - 50,776,006 (+)NCBI
CHM1_1981,059,641 - 81,092,550 (+)NCBI
T2T-CHM13v2.0990,454,269 - 90,487,311 (+)NCBI
Sequence:
RefSeq Acc Id: NM_058179   ⟹   NP_478059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,297,125 - 78,330,093 (+)NCBI
GRCh37980,911,991 - 80,945,009 (+)NCBI
Build 36980,101,879 - 80,134,829 (+)NCBI Archive
Celera951,489,329 - 51,522,284 (+)RGD
HuRef950,743,076 - 50,776,006 (+)NCBI
CHM1_1981,059,641 - 81,092,550 (+)NCBI
T2T-CHM13v2.0990,454,269 - 90,487,311 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_478059   ⟸   NM_058179
- Peptide Label: isoform 1
- UniProtKB: Q96AW2 (UniProtKB/Swiss-Prot),   Q5T7G6 (UniProtKB/Swiss-Prot),   Q5T7G5 (UniProtKB/Swiss-Prot),   Q9BQ12 (UniProtKB/Swiss-Prot),   Q9Y617 (UniProtKB/Swiss-Prot),   B4DHQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_066977   ⟸   NM_021154
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000317606   ⟸   ENST00000347159
RefSeq Acc Id: ENSP00000365773   ⟸   ENST00000376588
Protein Domains
Aminotransferase class V

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y617-F1-model_v2 AlphaFold Q9Y617 1-370 view protein structure

Promoters
RGD ID:7215295
Promoter ID:EPDNEW_H13394
Type:initiation region
Name:PSAT1_1
Description:phosphoserine aminotransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38978,297,127 - 78,297,187EPDNEW
RGD ID:6807984
Promoter ID:HG_KWN:63756
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_021154,   NM_058179
Position:
Human AssemblyChrPosition (strand)Source
Build 36980,101,191 - 80,102,367 (+)MPROMDB
RGD ID:6850852
Promoter ID:EP73221
Type:initiation region
Name:HS_PSA1
Description:Phosphoserine aminotransferase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36980,101,863 - 80,101,923EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19129 AgrOrtholog
COSMIC PSAT1 COSMIC
Ensembl Genes ENSG00000135069 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000347159 ENTREZGENE
  ENST00000347159.6 UniProtKB/Swiss-Prot
  ENST00000376588 ENTREZGENE
  ENST00000376588.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135069 GTEx
HGNC ID HGNC:19129 ENTREZGENE
Human Proteome Map PSAT1 Human Proteome Map
InterPro Aminotrans_V_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_V_PyrdxlP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pser_aminoTfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29968 UniProtKB/Swiss-Prot
NCBI Gene 29968 ENTREZGENE
OMIM 610936 OMIM
PANTHER PHOSPHOSERINE AMINOTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43247 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aminotran_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128395782 PharmGKB
PIRSF SerC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A9LS35_HUMAN UniProtKB/TrEMBL
  B4DHQ3 ENTREZGENE, UniProtKB/TrEMBL
  Q5T7G5 ENTREZGENE
  Q5T7G6 ENTREZGENE
  Q96AW2 ENTREZGENE
  Q9BQ12 ENTREZGENE
  Q9Y617 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5T7G5 UniProtKB/Swiss-Prot
  Q5T7G6 UniProtKB/Swiss-Prot
  Q96AW2 UniProtKB/Swiss-Prot
  Q9BQ12 UniProtKB/Swiss-Prot