PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) - Rat Genome Database

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Gene: PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) Homo sapiens
Analyze
Symbol: PAFAH1B1
Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
RGD ID: 1349260
HGNC Page HGNC:8574
Description: Enables dynein complex binding activity. Involved in several processes, including adult locomotory behavior; microtubule cytoskeleton organization; and nervous system development. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and nuclear envelope. Part of microtubule associated complex. Implicated in lissencephaly and lissencephaly 1. Biomarker of hepatocellular carcinoma and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LIS-1; LIS1; LIS2; lissencephaly 1 protein; lissencephaly-1 protein; MDCR; MDS; Miller-Dieker syndrome chromosome region; NudF; PAF acetylhydrolase 45 kDa subunit; PAF-AH 45 kDa subunit; PAF-AH alpha; PAFAH; PAFAH alpha; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa); platelet-activating factor acetylhydrolase IB subunit alpha; platelet-activating factor acetylhydrolase IB subunit beta; platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD); platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL354719.1   PAFAH1B1P1   PAFAH1B1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38172,593,183 - 2,685,615 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl172,593,183 - 2,685,615 (+)EnsemblGRCh38hg38GRCh38
GRCh37172,496,948 - 2,588,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36172,443,686 - 2,535,638 (+)NCBINCBI36Build 36hg18NCBI36
Build 34172,443,685 - 2,535,638NCBI
Celera172,513,612 - 2,605,584 (+)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef172,389,423 - 2,481,264 (+)NCBIHuRef
CHM1_1172,505,702 - 2,597,647 (+)NCBICHM1_1
T2T-CHM13v2.0172,482,370 - 2,574,760 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Apafant  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzatropine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
carbon nanotube  (ISO)
castor oil  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
deguelin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furfural  (EXP)
gentamycin  (ISO)
glucose  (ISO)
inulin  (ISO)
isosorbide mononitrate  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phosphatidylcholine  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
terbutaline  (ISO)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acrosome assembly  (IEA,ISO,ISS)
actin cytoskeleton organization  (IEA,ISO,ISS)
adult locomotory behavior  (IEA,IMP,ISO)
ameboidal-type cell migration  (IEA,ISO)
auditory receptor cell development  (IEA)
brain morphogenesis  (IBA,IMP)
cell differentiation  (IEA)
cell division  (IEA)
cell migration  (IEA,ISO)
cerebral cortex development  (IEA,IMP,ISO)
cerebral cortex neuron differentiation  (IEA,ISO)
chemical synaptic transmission  (IEA,ISO,ISS)
cochlea development  (IEA)
corpus callosum morphogenesis  (IMP)
cortical microtubule organization  (IEA)
establishment of centrosome localization  (IEA,ISO)
establishment of localization in cell  (IEA,ISO)
establishment of mitotic spindle orientation  (IBA,IEA,IMP)
establishment of planar polarity of embryonic epithelium  (IEA)
germ cell development  (IBA)
hippocampus development  (IEA,ISO,ISS)
interneuron migration  (IEA,ISO)
JNK cascade  (IEA,ISO)
layer formation in cerebral cortex  (IEA,ISO,ISS)
learning or memory  (IEA,ISO,ISS)
lipid catabolic process  (IEA)
maintenance of centrosome location  (IEA,ISO)
microtubule cytoskeleton organization  (IEA,ISO,ISS)
microtubule cytoskeleton organization involved in establishment of planar polarity  (IEA)
microtubule organizing center organization  (IBA,IMP)
microtubule sliding  (IEA)
microtubule-based process  (IDA)
modulation of chemical synaptic transmission  (IEA)
myeloid leukocyte migration  (IEA,ISO)
negative regulation of JNK cascade  (IEA,ISO)
negative regulation of neuron projection development  (IEA,ISO)
nervous system development  (IEA)
neuroblast proliferation  (IEA,ISO,ISS)
neuromuscular process controlling balance  (IEA,IMP,ISO)
neuron migration  (IEA,IMP,ISO,ISS)
nuclear membrane disassembly  (IEA,ISO)
nuclear migration  (IBA,IEA,ISO)
osteoclast development  (IEA,ISO)
platelet activating factor metabolic process  (ISS)
positive regulation of axon extension  (IEA,ISO)
positive regulation of cellular component organization  (IEA)
positive regulation of cytokine-mediated signaling pathway  (IEA,ISO)
positive regulation of dendritic spine morphogenesis  (IEA)
positive regulation of embryonic development  (IEA)
positive regulation of mitotic cell cycle  (IEA,ISO)
protein secretion  (IEA,ISO)
radial glia-guided pyramidal neuron migration  (IEA,ISO)
reelin-mediated signaling pathway  (IEA,ISS)
regulation of microtubule cytoskeleton organization  (IEA)
regulation of postsynapse organization  (IEA)
retrograde axonal transport  (IBA,IEA,ISO,ISS)
stem cell division  (IEA,ISO)
transmission of nerve impulse  (IEA,ISO,ISS)
vesicle transport along microtubule  (IBA,IEA,ISO,ISS)

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

Human Phenotype
Abnormal cerebral morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal upper lip morphology  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Agyria  (IAGP)
Anterior predominant thick cortex pachygyria  (IAGP)
Anteverted nares  (IAGP)
Aspiration pneumonia  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Atypical absence seizure  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Cavum septum pellucidum  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Delayed ability to sit  (IAGP)
Developmental regression  (IAGP)
Dilation of Virchow-Robin spaces  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysgyria  (IAGP)
EEG abnormality  (IAGP)
EEG with changes in voltage  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epicanthus  (IAGP)
Epileptic encephalopathy  (IAGP)
Feeding difficulties  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Frontal bossing  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impaired smooth pursuit  (IAGP)
Infantile spasms  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Language impairment  (IAGP)
Lissencephaly  (IAGP)
Low-set ears  (IAGP)
Narrow mouth  (IAGP)
Neonatal hyperbilirubinemia  (IAGP)
Neonatal hypotonia  (IAGP)
Nephropathy  (IAGP)
Neurodevelopmental delay  (IAGP)
Omphalocele  (IAGP)
Opisthotonus  (IAGP)
Pachygyria  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Posterior predominant thick cortex pachygyria  (IAGP)
Progressive microcephaly  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Spastic tetraparesis  (IAGP)
Sporadic  (IAGP)
Subcortical band heterotopia  (IAGP)
Tall stature  (IAGP)
Tetraplegia  (IAGP)
Thick cerebral cortex  (IAGP)
Ventriculomegaly  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Cardoso C, etal., Hum Mol Genet. 2000 Dec 12;9(20):3019-28.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. [A rare case of ileo-ileal intussusception secondary to adenocarcinoma of the small intestine in a 21-year-old adult] Guarda PG and Vitale M, Minerva Chir. 1991 Sep 30;46(18):985-7.
4. Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. Lipska BK, etal., Hum Mol Genet. 2006 Apr 15;15(8):1245-58. Epub 2006 Mar 1.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. Paylor R, etal., Learn Mem. 1999 Sep-Oct;6(5):521-37.
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Platelet-activating factor (PAF) acetylhydrolase activity, LIS1 expression, and seizures. Shmueli O, etal., J Neurosci Res. 1999 Jul 15;57(2):176-84.
12. The human LIS1 is downregulated in hepatocellular carcinoma and plays a tumor suppressor function. Xing Z, etal., Biochem Biophys Res Commun. 2011 Jun 3;409(2):193-9. doi: 10.1016/j.bbrc.2011.04.117. Epub 2011 May 1.
13. The Pafah1b complex interacts with the reelin receptor VLDLR. Zhang G, etal., PLoS One. 2007 Feb 28;2(2):e252.
Additional References at PubMed
PMID:7573359   PMID:7790358   PMID:8028668   PMID:8355785   PMID:8586424   PMID:9044400   PMID:9063735   PMID:9131135   PMID:9218411   PMID:9384577   PMID:9601647   PMID:9626899  
PMID:10441340   PMID:10491172   PMID:10727864   PMID:10729324   PMID:10931877   PMID:11001923   PMID:11056532   PMID:11076968   PMID:11163258   PMID:11163260   PMID:11294621   PMID:11502906  
PMID:11734602   PMID:11754098   PMID:11803439   PMID:11889140   PMID:11916011   PMID:11940666   PMID:12110797   PMID:12185771   PMID:12221128   PMID:12477932   PMID:12496397   PMID:12556484  
PMID:12796778   PMID:12852856   PMID:12885786   PMID:14578885   PMID:14581661   PMID:14584027   PMID:14733918   PMID:14962739   PMID:14970193   PMID:15007136   PMID:15057976   PMID:15081260  
PMID:15173193   PMID:15489334   PMID:15698475   PMID:15762842   PMID:16009940   PMID:16027700   PMID:16086290   PMID:16138011   PMID:16144905   PMID:16169070   PMID:16203747   PMID:16258276  
PMID:16411107   PMID:16462731   PMID:16549273   PMID:16642511   PMID:16689754   PMID:16754861   PMID:16761416   PMID:16766276   PMID:16806233   PMID:17018134   PMID:17041588   PMID:17043677  
PMID:17664403   PMID:17850624   PMID:18029348   PMID:18285425   PMID:18421979   PMID:18431085   PMID:18524253   PMID:18784752   PMID:18818748   PMID:19019335   PMID:19020519   PMID:19050731  
PMID:19056867   PMID:19136950   PMID:19251251   PMID:19527514   PMID:19622634   PMID:19632097   PMID:19667223   PMID:19913121   PMID:20048338   PMID:20084519   PMID:20133715   PMID:20140262  
PMID:20168084   PMID:20301752   PMID:20360068   PMID:20452482   PMID:20464283   PMID:20628086   PMID:20634891   PMID:20673868   PMID:20675372   PMID:21036906   PMID:21092859   PMID:21107783  
PMID:21319273   PMID:21399614   PMID:21565611   PMID:21593204   PMID:21652625   PMID:21873635   PMID:21890215   PMID:21911489   PMID:22006948   PMID:22159412   PMID:22328561   PMID:22373868  
PMID:22749159   PMID:22863883   PMID:22956769   PMID:23813913   PMID:24453475   PMID:24487275   PMID:24928020   PMID:24981860   PMID:25479763   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26380866   PMID:26485645   PMID:26496610   PMID:26638075   PMID:27124368   PMID:27173435   PMID:27503909   PMID:27646688   PMID:27891766   PMID:28076835   PMID:28320416   PMID:28406398  
PMID:28407821   PMID:28514442   PMID:28830073   PMID:28886386   PMID:29117863   PMID:29180619   PMID:29467282   PMID:29511337   PMID:29568061   PMID:29911972   PMID:29934494   PMID:29955894  
PMID:29961565   PMID:30033366   PMID:30397336   PMID:30561431   PMID:30581152   PMID:31091453   PMID:31413325   PMID:31540324   PMID:31815665   PMID:32235678   PMID:32341549   PMID:32665550  
PMID:32687490   PMID:32801337   PMID:33026665   PMID:33296106   PMID:33374456   PMID:33545068   PMID:33565082   PMID:33854235   PMID:33961781   PMID:34079125   PMID:34315543   PMID:34349018  
PMID:34373451   PMID:34709727   PMID:34857952   PMID:35063084   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35567955   PMID:35831314   PMID:35987950  
PMID:36104662   PMID:36192543   PMID:36215168   PMID:36274587   PMID:36604567   PMID:36610398   PMID:36692009   PMID:36717926   PMID:37071682   PMID:37322240   PMID:37365982   PMID:37448957  
PMID:37689310   PMID:37848033   PMID:38334954   PMID:38364333   PMID:38547289   PMID:39147351  


Genomics

Comparative Map Data
PAFAH1B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38172,593,183 - 2,685,615 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl172,593,183 - 2,685,615 (+)EnsemblGRCh38hg38GRCh38
GRCh37172,496,948 - 2,588,909 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36172,443,686 - 2,535,638 (+)NCBINCBI36Build 36hg18NCBI36
Build 34172,443,685 - 2,535,638NCBI
Celera172,513,612 - 2,605,584 (+)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef172,389,423 - 2,481,264 (+)NCBIHuRef
CHM1_1172,505,702 - 2,597,647 (+)NCBICHM1_1
T2T-CHM13v2.0172,482,370 - 2,574,760 (+)NCBIT2T-CHM13v2.0
Pafah1b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391174,564,775 - 74,615,210 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1174,564,775 - 74,615,496 (-)EnsemblGRCm39 Ensembl
GRCm381174,673,949 - 74,724,384 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1174,673,949 - 74,724,670 (-)EnsemblGRCm38mm10GRCm38
MGSCv371174,487,452 - 74,537,886 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361174,490,150 - 74,540,865 (-)NCBIMGSCv36mm8
Celera1182,183,768 - 82,236,827 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1145.76NCBI
Pafah1b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81060,031,441 - 60,090,259 (-)NCBIGRCr8
mRatBN7.21059,533,042 - 59,591,808 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1059,534,117 - 59,591,808 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1064,180,143 - 64,238,014 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01063,685,733 - 63,743,607 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01059,148,104 - 59,205,968 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01061,456,144 - 61,577,412 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1061,456,145 - 61,577,412 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01061,186,183 - 61,299,247 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41061,955,348 - 62,037,871 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11061,968,971 - 62,051,494 (-)NCBI
Celera1058,565,530 - 58,623,461 (-)NCBICelera
Cytogenetic Map10q24NCBI
Pafah1b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955481608,897 - 686,452 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955481608,897 - 686,454 (-)NCBIChiLan1.0ChiLan1.0
PAFAH1B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21910,173,698 - 10,266,800 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11712,140,607 - 12,233,244 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0172,584,349 - 2,676,928 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1172,589,129 - 2,680,994 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl172,590,007 - 2,680,994 (+)Ensemblpanpan1.1panPan2
PAFAH1B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1946,648,057 - 46,731,259 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl946,648,052 - 46,771,400 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha945,800,900 - 45,884,016 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0947,482,963 - 47,566,431 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl947,482,963 - 47,607,125 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1946,250,595 - 46,333,659 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0946,544,618 - 46,627,828 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0946,599,366 - 46,680,302 (+)NCBIUU_Cfam_GSD_1.0
Pafah1b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560245,734,221 - 45,815,751 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365388,612,049 - 8,694,015 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365388,612,142 - 8,693,698 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAFAH1B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1248,628,816 - 48,735,834 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11248,567,329 - 48,735,836 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21250,398,376 - 50,505,192 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAFAH1B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1162,270,126 - 2,293,705 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl162,270,085 - 2,296,825 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605919,649,125 - 19,755,407 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pafah1b1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247865,224,982 - 5,302,436 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247865,223,890 - 5,306,033 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAFAH1B1
490 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter) single nucleotide variant Lissencephaly [RCV001291181] Chr17:2638307 [GRCh38]
Chr17:2541601 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs) duplication Lissencephaly [RCV001291183] Chr17:2666050..2666051 [GRCh38]
Chr17:2569344..2569345 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.991_1002+10del deletion Lissencephaly due to LIS1 mutation [RCV000008542] Chr17:2676592..2676613 [GRCh38]
Chr17:2579886..2579907 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.118-11_118-7del deletion Lissencephaly due to LIS1 mutation [RCV000656496] Chr17:2666002..2666006 [GRCh38]
Chr17:2569296..2569300 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000008540]|not provided [RCV002512912] Chr17:2670209 [GRCh38]
Chr17:2573503 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000008541]|not provided [RCV000255710] Chr17:2674205 [GRCh38]
Chr17:2577499 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) single nucleotide variant Subcortical band heterotopia [RCV000008543] Chr17:2670268 [GRCh38]
Chr17:2573562 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000008544] Chr17:2676553 [GRCh38]
Chr17:2579847 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000008545] Chr17:2665431 [GRCh38]
Chr17:2568725 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000008546]|not provided [RCV003555976] Chr17:2670247 [GRCh38]
Chr17:2573541 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) single nucleotide variant Subcortical band heterotopia [RCV000008547]|not provided [RCV001851740] Chr17:2674110 [GRCh38]
Chr17:2577404 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) single nucleotide variant Intellectual disability [RCV001255338]|Lissencephaly [RCV001291182]|Lissencephaly due to LIS1 mutation [RCV000008549]|Subcortical band heterotopia [RCV000008548]|not provided [RCV001851741] Chr17:2638310 [GRCh38]
Chr17:2541604 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000008550] Chr17:2674218 [GRCh38]
Chr17:2577512 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1002+1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000020297] Chr17:2676607 [GRCh38]
Chr17:2579901 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) deletion Lissencephaly due to LIS1 mutation [RCV000020298]|not provided [RCV000254776] Chr17:2680206 [GRCh38]
Chr17:2583500 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) duplication Lissencephaly due to LIS1 mutation [RCV000020299] Chr17:2680205..2680206 [GRCh38]
Chr17:2583499..2583500 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.*17C>T single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000020300]|not provided [RCV001650856]|not specified [RCV000078809] Chr17:2681819 [GRCh38]
Chr17:2585113 [GRCh37]
Chr17:17p13.3		 benign|not provided
NM_000430.4(PAFAH1B1):c.*3G>T single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000149407] Chr17:2681805 [GRCh38]
Chr17:2585099 [GRCh37]
Chr17:17p13.3		 pathogenic|benign|not provided
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) deletion Lissencephaly due to LIS1 mutation [RCV000020302]|not provided [RCV000255298] Chr17:2666053 [GRCh38]
Chr17:2569347 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) duplication Intellectual disability [RCV001255331]|Lissencephaly due to LIS1 mutation [RCV000020303]|not provided [RCV000364082]|not specified [RCV002247373] Chr17:2666052..2666053 [GRCh38]
Chr17:2569346..2569347 [GRCh37]
Chr17:17p13.3		 pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.569-10T>C single nucleotide variant Inborn genetic diseases [RCV000623782]|Lissencephaly [RCV001291184]|Lissencephaly due to LIS1 mutation [RCV000020304]|not provided [RCV000494023] Chr17:2672645 [GRCh38]
Chr17:2575939 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 copy number loss See cases [RCV000050936] Chr17:198748..3102332 [GRCh38]
Chr17:50690..3005626 [GRCh37]
Chr17:48539..2952376 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3 copy number gain See cases [RCV000052448] Chr17:1287199..3154232 [GRCh38]
Chr17:1190493..3057526 [GRCh37]
Chr17:1137243..3004276 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] Chr17:198748..3436345 [GRCh38]
Chr17:50690..3339639 [GRCh37]
Chr17:48539..3286389 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3(chr17:2436067-2818828)x1 copy number loss See cases [RCV000053404] Chr17:2436067..2818828 [GRCh38]
Chr17:2339361..2722122 [GRCh37]
Chr17:2286111..2668872 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1 copy number loss See cases [RCV000053405] Chr17:2527510..3467165 [GRCh38]
Chr17:2430804..3370459 [GRCh37]
Chr17:2377554..3317209 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3(chr17:2452259-2691244)x3 copy number gain See cases [RCV000053970] Chr17:2452259..2691244 [GRCh38]
Chr17:2355553..2594538 [GRCh37]
Chr17:2302303..2541288 [NCBI36]
Chr17:17p13.3		 uncertain significance
GRCh38/hg38 17p13.3(chr17:2490435-2638867)x3 copy number gain See cases [RCV000053971] Chr17:2490435..2638867 [GRCh38]
Chr17:2393729..2542161 [GRCh37]
Chr17:2340479..2488911 [NCBI36]
Chr17:17p13.3		 uncertain significance
NM_000430.3(PAFAH1B1):c.849C>T (p.Ser283=) single nucleotide variant Malignant melanoma [RCV000063178] Chr17:2674237 [GRCh38]
Chr17:2577531 [GRCh37]
Chr17:2524281 [NCBI36]
Chr17:17p13.3		 not provided
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) single nucleotide variant not provided [RCV002055100]|not specified [RCV000078810] Chr17:2680220 [GRCh38]
Chr17:2583514 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln) single nucleotide variant not provided [RCV000078811] Chr17:2665377 [GRCh38]
Chr17:2568671 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) single nucleotide variant not provided [RCV000877686]|not specified [RCV000078812] Chr17:2670237 [GRCh38]
Chr17:2573531 [GRCh37]
Chr17:17p13.3		 benign|likely benign
NM_000430.4(PAFAH1B1):c.672-10A>C single nucleotide variant not provided [RCV000873088]|not specified [RCV000078813] Chr17:2674050 [GRCh38]
Chr17:2577344 [GRCh37]
Chr17:17p13.3		 benign|likely benign
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) single nucleotide variant PAFAH1B1-related disorder [RCV003915052]|not provided [RCV000712502]|not specified [RCV000078814] Chr17:2674168 [GRCh38]
Chr17:2577462 [GRCh37]
Chr17:17p13.3		 benign|likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs) duplication Lissencephaly [RCV001291189] Chr17:2680204..2680205 [GRCh38]
Chr17:2583498..2583499 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del deletion Lissencephaly [RCV001291191]   likely pathogenic
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) deletion not provided [RCV000180504] Chr17:2676508..2676511 [GRCh38]
Chr17:2579802..2579805 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly) single nucleotide variant Lissencephaly [RCV001291185] Chr17:2672741 [GRCh38]
Chr17:2576035 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.3:c.*3T>G single nucleotide variant Lissencephaly 1 [RCV000133509] Chr17:17p13.3 benign
NM_000430.4(PAFAH1B1):c.1002+5G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147002] Chr17:2676611 [GRCh38]
Chr17:2579905 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1002C>T (p.Leu334=) single nucleotide variant not provided [RCV000940348]|not specified [RCV000147003] Chr17:2676606 [GRCh38]
Chr17:2579900 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147004] Chr17:2680170 [GRCh38]
Chr17:2583464 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147005] Chr17:2680170 [GRCh38]
Chr17:2583464 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs) deletion Lissencephaly due to LIS1 mutation [RCV000147006] Chr17:2680185..2680192 [GRCh38]
Chr17:2583479..2583486 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs) deletion Lissencephaly due to LIS1 mutation [RCV000147007] Chr17:2680224 [GRCh38]
Chr17:2583518 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147008] Chr17:2680225 [GRCh38]
Chr17:2583519 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs) deletion Lissencephaly due to LIS1 mutation [RCV000147009] Chr17:2680261 [GRCh38]
Chr17:2583555 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147011] Chr17:2680296 [GRCh38]
Chr17:2583590 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1159+2T>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147012]|not provided [RCV001857518] Chr17:2680322 [GRCh38]
Chr17:2583616 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147013] Chr17:2680320 [GRCh38]
Chr17:2583614 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147014] Chr17:2681734 [GRCh38]
Chr17:2585028 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147015] Chr17:2681757 [GRCh38]
Chr17:2585051 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147016] Chr17:2681762 [GRCh38]
Chr17:2585056 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147017] Chr17:2681765 [GRCh38]
Chr17:2585059 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147018] Chr17:2681770 [GRCh38]
Chr17:2585064 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147019]|not provided [RCV000484701] Chr17:2666019 [GRCh38]
Chr17:2569313 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147020] Chr17:2681802 [GRCh38]
Chr17:2585096 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs) deletion Lissencephaly due to LIS1 mutation [RCV000147021] Chr17:2666031..2666032 [GRCh38]
Chr17:2569325..2569326 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) deletion Lissencephaly due to LIS1 mutation [RCV000147022]|not provided [RCV002515970] Chr17:2666047 [GRCh38]
Chr17:2569341 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) single nucleotide variant Inborn genetic diseases [RCV001266155]|Lissencephaly due to LIS1 mutation [RCV000147023]|not provided [RCV001555095] Chr17:2666061 [GRCh38]
Chr17:2569355 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.192+15T>C single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147024]|not provided [RCV003660762] Chr17:2666105 [GRCh38]
Chr17:2569399 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.192+1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147025] Chr17:2666091 [GRCh38]
Chr17:2569385 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic
NM_000430.4(PAFAH1B1):c.192+1G>T single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147026] Chr17:2666091 [GRCh38]
Chr17:2569385 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147027] Chr17:2666090 [GRCh38]
Chr17:2569384 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147028]|not provided [RCV000429627] Chr17:2667064 [GRCh38]
Chr17:2570358 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter) duplication Lissencephaly due to LIS1 mutation [RCV000147029] Chr17:2667103..2667104 [GRCh38]
Chr17:2570397..2570398 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.33-3C>T single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147030] Chr17:2665369 [GRCh38]
Chr17:2568663 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147031] Chr17:2667170 [GRCh38]
Chr17:2570464 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147032] Chr17:2665376 [GRCh38]
Chr17:2568670 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147033] Chr17:2667185 [GRCh38]
Chr17:2570479 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) single nucleotide variant not provided [RCV000724852]|not specified [RCV000147034] Chr17:2667186 [GRCh38]
Chr17:2570480 [GRCh37]
Chr17:17p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000430.4(PAFAH1B1):c.399+1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147035] Chr17:2667199 [GRCh38]
Chr17:2570493 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147036] Chr17:2638291 [GRCh38]
Chr17:2541585 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147037] Chr17:2670168 [GRCh38]
Chr17:2573462 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147038]|not provided [RCV000255123] Chr17:2670193 [GRCh38]
Chr17:2573487 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs) microsatellite Lissencephaly due to LIS1 mutation [RCV000147039]|not provided [RCV003565389] Chr17:2670216..2670217 [GRCh38]
Chr17:2573510..2573511 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147040] Chr17:2670223 [GRCh38]
Chr17:2573517 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147041] Chr17:2670266 [GRCh38]
Chr17:2573560 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) deletion Lissencephaly due to LIS1 mutation [RCV000147042] Chr17:2670285..2670289 [GRCh38]
Chr17:2573579..2573583 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) deletion Lissencephaly due to LIS1 mutation [RCV000147043] Chr17:2670297 [GRCh38]
Chr17:2573591 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.568+27C>T single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001788044]|not provided [RCV000833469]|not specified [RCV000147044] Chr17:2670358 [GRCh38]
Chr17:2573652 [GRCh37]
Chr17:17p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147045] Chr17:2665395 [GRCh38]
Chr17:2568689 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147046]|not provided [RCV003128583] Chr17:2672718 [GRCh38]
Chr17:2576012 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs) deletion Lissencephaly due to LIS1 mutation [RCV000147047] Chr17:2672724..2672731 [GRCh38]
Chr17:2576018..2576025 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs) microsatellite Lissencephaly due to LIS1 mutation [RCV000147048]|not provided [RCV002514825] Chr17:2672731..2672732 [GRCh38]
Chr17:2576025..2576026 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147049] Chr17:2672743 [GRCh38]
Chr17:2576037 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) deletion Lissencephaly due to LIS1 mutation [RCV000147050] Chr17:2672742 [GRCh38]
Chr17:2576036 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147051] Chr17:2672750 [GRCh38]
Chr17:2576044 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.671+4A>G single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147052] Chr17:2672761 [GRCh38]
Chr17:2576055 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.671+5G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147053] Chr17:2672762 [GRCh38]
Chr17:2576056 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147054] Chr17:2672757 [GRCh38]
Chr17:2576051 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147055] Chr17:2674063 [GRCh38]
Chr17:2577357 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147056] Chr17:2674075 [GRCh38]
Chr17:2577369 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) single nucleotide variant not provided [RCV000865411]|not specified [RCV000147057] Chr17:2674081 [GRCh38]
Chr17:2577375 [GRCh37]
Chr17:17p13.3		 benign|likely benign
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs) duplication Lissencephaly due to LIS1 mutation [RCV000147058] Chr17:2674103..2674104 [GRCh38]
Chr17:2577397..2577398 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147059] Chr17:2665411 [GRCh38]
Chr17:2568705 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147060] Chr17:2674118 [GRCh38]
Chr17:2577412 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147061] Chr17:2674139 [GRCh38]
Chr17:2577433 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147063] Chr17:2674229 [GRCh38]
Chr17:2577523 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147064] Chr17:2665423 [GRCh38]
Chr17:2568717 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147065] Chr17:2674239 [GRCh38]
Chr17:2577533 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.900+1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147066]|not provided [RCV003221822] Chr17:2674289 [GRCh38]
Chr17:2577583 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147067] Chr17:2674288 [GRCh38]
Chr17:2577582 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs) deletion Lissencephaly due to LIS1 mutation [RCV000147068] Chr17:2676508 [GRCh38]
Chr17:2579802 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147069] Chr17:2676542 [GRCh38]
Chr17:2579836 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000147070] Chr17:2676569 [GRCh38]
Chr17:2579863 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) single nucleotide variant Lissencephaly [RCV001291190]|Lissencephaly due to LIS1 mutation [RCV000147010]|Neurodevelopmental delay [RCV002273962] Chr17:2680272 [GRCh38]
Chr17:2583566 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3 copy number gain See cases [RCV000135314] Chr17:2414781..2722552 [GRCh38]
Chr17:2318075..2625846 [GRCh37]
Chr17:2264825..2572596 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3(chr17:2436267-2685302)x3 copy number gain See cases [RCV000135332] Chr17:2436267..2685302 [GRCh38]
Chr17:2339561..2588596 [GRCh37]
Chr17:2286311..2535346 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 copy number loss See cases [RCV000134971] Chr17:198748..2685361 [GRCh38]
Chr17:50690..2588655 [GRCh37]
Chr17:48539..2535405 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3(chr17:2581219-2767565)x1 copy number loss See cases [RCV000135697] Chr17:2581219..2767565 [GRCh38]
Chr17:2484513..2670859 [GRCh37]
Chr17:2431263..2617609 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3 copy number gain See cases [RCV000136987] Chr17:2254635..2699329 [GRCh38]
Chr17:2157929..2602623 [GRCh37]
Chr17:2104679..2549373 [NCBI36]
Chr17:17p13.3		 uncertain significance
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3 copy number gain See cases [RCV000136692] Chr17:2599570..2624929 [GRCh38]
Chr17:2502864..2528223 [GRCh37]
Chr17:2449614..2474973 [NCBI36]
Chr17:17p13.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17p13.3(chr17:2473511-2594380)x3 copy number gain See cases [RCV000137570] Chr17:2473511..2594380 [GRCh38]
Chr17:2376805..2497674 [GRCh37]
Chr17:2323555..2444424 [NCBI36]
Chr17:17p13.3		 likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2		 likely pathogenic
GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1 copy number loss See cases [RCV000138203] Chr17:1742705..2952264 [GRCh38]
Chr17:1645999..2855558 [GRCh37]
Chr17:1592749..2802308 [NCBI36]
Chr17:17p13.3		 pathogenic|likely benign
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1 copy number loss See cases [RCV000137986] Chr17:2592886..2609006 [GRCh38]
Chr17:2496180..2512300 [GRCh37]
Chr17:2442930..2459050 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1 copy number loss See cases [RCV000138311] Chr17:2012699..2644858 [GRCh38]
Chr17:1915993..2548152 [GRCh37]
Chr17:1862743..2494902 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1 copy number loss See cases [RCV000139972] Chr17:2298292..2728190 [GRCh38]
Chr17:2201586..2631484 [GRCh37]
Chr17:2148336..2578234 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3 copy number gain See cases [RCV000142262] Chr17:2403263..2960737 [GRCh38]
Chr17:2306557..2864031 [GRCh37]
Chr17:2253307..2810781 [NCBI36]
Chr17:17p13.3		 likely pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 copy number loss See cases [RCV000142323] Chr17:150732..3242868 [GRCh38]
Chr17:525..3146162 [GRCh37]
Chr17:525..3092912 [NCBI36]
Chr17:17p13.3		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3(chr17:2599583-2624994)x3 copy number gain See cases [RCV000142832] Chr17:2599583..2624994 [GRCh38]
Chr17:2502877..2528288 [GRCh37]
Chr17:2449627..2475038 [NCBI36]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1003-30_1032del deletion Lissencephaly due to LIS1 mutation [RCV000193329] Chr17:2680132..2680191 [GRCh38]
Chr17:2583426..2583485 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.569-4T>G single nucleotide variant not provided [RCV000179758] Chr17:2672651 [GRCh38]
Chr17:2575945 [GRCh37]
Chr17:17p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) single nucleotide variant Inborn genetic diseases [RCV004020173]|not provided [RCV001545406]|not specified [RCV000180503] Chr17:2676562 [GRCh38]
Chr17:2579856 [GRCh37]
Chr17:17p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn) single nucleotide variant not provided [RCV000177065] Chr17:2665451 [GRCh38]
Chr17:2568745 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000184018] Chr17:2674206 [GRCh38]
Chr17:2577500 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs) duplication Lissencephaly due to LIS1 mutation [RCV000195211] Chr17:2674216..2674217 [GRCh38]
Chr17:2577510..2577511 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.33-3C>G single nucleotide variant not specified [RCV000194419] Chr17:2665369 [GRCh38]
Chr17:2568663 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000191116] Chr17:2670286 [GRCh38]
Chr17:2573580 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.190_192+5dup duplication Lissencephaly due to LIS1 mutation [RCV000192347] Chr17:2666087..2666088 [GRCh38]
Chr17:2569381..2569382 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs) duplication Lissencephaly due to LIS1 mutation [RCV000192553] Chr17:2670296..2670297 [GRCh38]
Chr17:2573590..2573591 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs) duplication Lissencephaly due to LIS1 mutation [RCV000192650]|not provided [RCV004777616] Chr17:2667142..2667143 [GRCh38]
Chr17:2570436..2570437 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs) indel Lissencephaly due to LIS1 mutation [RCV000192780] Chr17:2674158..2674160 [GRCh38]
Chr17:2577452..2577454 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) microsatellite Inborn genetic diseases [RCV000623963]|Lissencephaly due to LIS1 mutation [RCV000192866]|not provided [RCV000599007] Chr17:2674088..2674089 [GRCh38]
Chr17:2577382..2577383 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs) deletion Lissencephaly due to LIS1 mutation [RCV000193085] Chr17:2676515 [GRCh38]
Chr17:2579809 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg) single nucleotide variant not specified [RCV000193470] Chr17:2667149 [GRCh38]
Chr17:2570443 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs) duplication Lissencephaly due to LIS1 mutation [RCV000193550] Chr17:2667084..2667085 [GRCh38]
Chr17:2570378..2570379 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.569-3del deletion Lissencephaly due to LIS1 mutation [RCV000193791] Chr17:2672649 [GRCh38]
Chr17:2575943 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs) duplication Lissencephaly due to LIS1 mutation [RCV000193935] Chr17:2676536..2676537 [GRCh38]
Chr17:2579830..2579831 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs) microsatellite Lissencephaly due to LIS1 mutation [RCV000194019] Chr17:2674159..2674160 [GRCh38]
Chr17:2577453..2577454 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs) duplication Lissencephaly due to LIS1 mutation [RCV000194082] Chr17:2665408..2665409 [GRCh38]
Chr17:2568702..2568703 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs) duplication Lissencephaly due to LIS1 mutation [RCV000194197]|not provided [RCV003556246] Chr17:2680178..2680179 [GRCh38]
Chr17:2583472..2583473 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs) duplication Lissencephaly due to LIS1 mutation [RCV000194563] Chr17:2674112..2674113 [GRCh38]
Chr17:2577406..2577407 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs) duplication Lissencephaly due to LIS1 mutation [RCV000194642] Chr17:2672750..2672751 [GRCh38]
Chr17:2576044..2576045 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs) duplication Lissencephaly due to LIS1 mutation [RCV000194728]|not provided [RCV000481949] Chr17:2670201..2670202 [GRCh38]
Chr17:2573495..2573496 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.3(PAFAH1B1):c.1045dupG (p.Lys351Glufs) duplication Lissencephaly 1 [RCV000195025] Chr17:2680206 [GRCh38]
Chr17:2583500 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter) single nucleotide variant Intellectual disability [RCV001526557] Chr17:2667081 [GRCh38]
Chr17:2570375 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.826G>T (p.Glu276Ter) single nucleotide variant not provided [RCV000255588] Chr17:2674214 [GRCh38]
Chr17:2577508 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2496180-2498568)x1 copy number loss See cases [RCV000240326] Chr17:2496180..2498568 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2497629-2585485)x1 copy number loss See cases [RCV000240351] Chr17:2497629..2585485 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.192+49C>T single nucleotide variant not provided [RCV001557886]|not specified [RCV000249444] Chr17:2666139 [GRCh38]
Chr17:2569433 [GRCh37]
Chr17:17p13.3		 benign|likely benign
NM_000430.4(PAFAH1B1):c.192+43T>C single nucleotide variant not provided [RCV001594891]|not specified [RCV000244676] Chr17:2666133 [GRCh38]
Chr17:2569427 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.118-14T>C single nucleotide variant not provided [RCV001511533]|not specified [RCV000254523] Chr17:2666002 [GRCh38]
Chr17:2569296 [GRCh37]
Chr17:17p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1 copy number loss See cases [RCV000240453] Chr17:1218064..2619473 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.618T>A (p.His206Gln) single nucleotide variant not provided [RCV003052919] Chr17:2672704 [GRCh38]
Chr17:2575998 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3371G>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000266051] Chr17:2685173 [GRCh38]
Chr17:2588467 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2603G>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000285674] Chr17:2684405 [GRCh38]
Chr17:2587699 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*1042_*1043del deletion Lissencephaly/Subcortical Band Heterotopia [RCV000304898]|not provided [RCV002510859] Chr17:2682844..2682845 [GRCh38]
Chr17:2586138..2586139 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.*3319G>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000305270] Chr17:2685121 [GRCh38]
Chr17:2588415 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*468C>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000287632] Chr17:2682270 [GRCh38]
Chr17:2585564 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2922T>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000287849] Chr17:2684724 [GRCh38]
Chr17:2588018 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2835G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000291463] Chr17:2684637 [GRCh38]
Chr17:2587931 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2356T>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000274900] Chr17:2684158 [GRCh38]
Chr17:2587452 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3694C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000293186] Chr17:2685496 [GRCh38]
Chr17:2588790 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*686T>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000293597] Chr17:2682488 [GRCh38]
Chr17:2585782 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-84A>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000294650] Chr17:2638205 [GRCh38]
Chr17:2541499 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-299C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000259360] Chr17:2593898 [GRCh38]
Chr17:2497192 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*1378G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000276792] Chr17:2683180 [GRCh38]
Chr17:2586474 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*806G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000280562] Chr17:2682608 [GRCh38]
Chr17:2585902 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*863C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000390885] Chr17:2682665 [GRCh38]
Chr17:2585959 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*2451A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000356846] Chr17:2684253 [GRCh38]
Chr17:2587547 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1159+5del deletion not provided [RCV000270752] Chr17:2680325 [GRCh38]
Chr17:2583619 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV003448294]|not provided [RCV000276564] Chr17:2667136 [GRCh38]
Chr17:2570430 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1181A>G (p.Tyr394Cys) single nucleotide variant not provided [RCV001960775] Chr17:2681750 [GRCh38]
Chr17:2585044 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.*2140A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000393729] Chr17:2683942 [GRCh38]
Chr17:2587236 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*3447G>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000272037] Chr17:2685249 [GRCh38]
Chr17:2588543 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-504G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000270869] Chr17:2593693 [GRCh38]
Chr17:2496987 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1297T>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000270949] Chr17:2683099 [GRCh38]
Chr17:2586393 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-192C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000281593] Chr17:2594005 [GRCh38]
Chr17:2497299 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-306C>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000322320] Chr17:2593891 [GRCh38]
Chr17:2497185 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3040C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000312268] Chr17:2684842 [GRCh38]
Chr17:2588136 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1991T>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000363436] Chr17:2683793 [GRCh38]
Chr17:2587087 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*2862G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000346272] Chr17:2684664 [GRCh38]
Chr17:2587958 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2355A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000369512] Chr17:2684157 [GRCh38]
Chr17:2587451 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1356C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000370850] Chr17:2683158 [GRCh38]
Chr17:2586452 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*1133A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000365404] Chr17:2682935 [GRCh38]
Chr17:2586229 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*68dup duplication Lissencephaly/Subcortical Band Heterotopia [RCV000272609] Chr17:2681866..2681867 [GRCh38]
Chr17:2585160..2585161 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*1601C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000282566] Chr17:2683403 [GRCh38]
Chr17:2586697 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1331C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000326033] Chr17:2683133 [GRCh38]
Chr17:2586427 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*701C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000348251] Chr17:2682503 [GRCh38]
Chr17:2585797 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3072T>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000348459] Chr17:2684874 [GRCh38]
Chr17:2588168 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*1713A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000279001] Chr17:2683515 [GRCh38]
Chr17:2586809 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*279A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000327563] Chr17:2682081 [GRCh38]
Chr17:2585375 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1848A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000398252] Chr17:2683650 [GRCh38]
Chr17:2586944 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*2608C>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000321965] Chr17:2684410 [GRCh38]
Chr17:2587704 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*2600G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000371982] Chr17:2684402 [GRCh38]
Chr17:2587696 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2574G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000262063] Chr17:2684376 [GRCh38]
Chr17:2587670 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*2387C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000329973] Chr17:2684189 [GRCh38]
Chr17:2587483 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3627_*3628del deletion Lissencephaly/Subcortical Band Heterotopia [RCV000351705]|not provided [RCV004694308] Chr17:2685429..2685430 [GRCh38]
Chr17:2588723..2588724 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-62T>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000352110] Chr17:2638227 [GRCh38]
Chr17:2541521 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2833C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000376549] Chr17:2684635 [GRCh38]
Chr17:2587929 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3187C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000354284] Chr17:2684989 [GRCh38]
Chr17:2588283 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*1056C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000403366] Chr17:2682858 [GRCh38]
Chr17:2586152 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3442T>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000385084] Chr17:2685244 [GRCh38]
Chr17:2588538 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-331GGGCCC[3] microsatellite Lissencephaly/Subcortical Band Heterotopia [RCV000366540] Chr17:2593862..2593863 [GRCh38]
Chr17:2497156..2497157 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) single nucleotide variant not provided [RCV000319105] Chr17:2672656 [GRCh38]
Chr17:2575950 [GRCh37]
Chr17:17p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000430.4(PAFAH1B1):c.*1121A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000310788] Chr17:2682923 [GRCh38]
Chr17:2586217 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-304C>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000379746] Chr17:2593893 [GRCh38]
Chr17:2497187 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-335C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000264841] Chr17:2593862 [GRCh38]
Chr17:2497156 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*2891G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000382250] Chr17:2684693 [GRCh38]
Chr17:2587987 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*852A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000335584] Chr17:2682654 [GRCh38]
Chr17:2585948 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3294G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000259361] Chr17:2685096 [GRCh38]
Chr17:2588390 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*2230G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000314778] Chr17:2684032 [GRCh38]
Chr17:2587326 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-525G>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000315054] Chr17:2593672 [GRCh38]
Chr17:2496966 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*1053G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000359532] Chr17:2682855 [GRCh38]
Chr17:2586149 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*793A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000399973] Chr17:2682595 [GRCh38]
Chr17:2585889 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-133A>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000386535] Chr17:2638156 [GRCh38]
Chr17:2541450 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3180G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000299467] Chr17:2684982 [GRCh38]
Chr17:2588276 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2584C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000317302] Chr17:2684386 [GRCh38]
Chr17:2587680 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-294C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000317068] Chr17:2593903 [GRCh38]
Chr17:2497197 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*1914A>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000339204] Chr17:2683716 [GRCh38]
Chr17:2587010 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*3075C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000407505] Chr17:2684877 [GRCh38]
Chr17:2588171 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1663G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000318938] Chr17:2683465 [GRCh38]
Chr17:2586759 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*2945C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000352089] Chr17:2684747 [GRCh38]
Chr17:2588041 [GRCh37]
Chr17:17p13.3		 likely benign
GRCh37/hg19 17p13.3(chr17:2371080-2670859)x3 copy number gain not provided [RCV000584838] Chr17:2371080..2670859 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.484G>T (p.Gly162Cys) single nucleotide variant not provided [RCV002281232] Chr17:2670247 [GRCh38]
Chr17:2573541 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:2560963-2739138)x3 copy number gain not provided [RCV000585459] Chr17:2560963..2739138 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.569G>T (p.Gly190Val) single nucleotide variant PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia [RCV003315117] Chr17:2672655 [GRCh38]
Chr17:2575949 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.-507G>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000362768] Chr17:2593690 [GRCh38]
Chr17:2496984 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3570G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000381792] Chr17:2685372 [GRCh38]
Chr17:2588666 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1496C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000331833] Chr17:2683298 [GRCh38]
Chr17:2586592 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.399+4A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000346225] Chr17:2667202 [GRCh38]
Chr17:2570496 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*387T>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000382191] Chr17:2682189 [GRCh38]
Chr17:2585483 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-176del deletion Lissencephaly/Subcortical Band Heterotopia [RCV000348282] Chr17:2638113 [GRCh38]
Chr17:2541407 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1906A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000284140] Chr17:2683708 [GRCh38]
Chr17:2587002 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1519AG[2] microsatellite Lissencephaly/Subcortical Band Heterotopia [RCV000386334] Chr17:2683321..2683322 [GRCh38]
Chr17:2586615..2586616 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-534_-529dup duplication Lissencephaly/Subcortical Band Heterotopia [RCV000404423] Chr17:2593657..2593658 [GRCh38]
Chr17:2496951..2496952 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*3631G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000387543] Chr17:2685433 [GRCh38]
Chr17:2588727 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3584G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000296271] Chr17:2685386 [GRCh38]
Chr17:2588680 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3438A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000321223] Chr17:2685240 [GRCh38]
Chr17:2588534 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*532G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000351878] Chr17:2682334 [GRCh38]
Chr17:2585628 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*588T>C single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000387888] Chr17:2682390 [GRCh38]
Chr17:2585684 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3038C>T single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000407498] Chr17:2684840 [GRCh38]
Chr17:2588134 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1990A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000308795] Chr17:2683792 [GRCh38]
Chr17:2587086 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.900+11dup duplication Lissencephaly/Subcortical Band Heterotopia [RCV000353512] Chr17:2674298..2674299 [GRCh38]
Chr17:2577592..2577593 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-440_-438del deletion Lissencephaly/Subcortical Band Heterotopia [RCV000309562] Chr17:2593755..2593757 [GRCh38]
Chr17:2497049..2497051 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1681G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000373456] Chr17:2683483 [GRCh38]
Chr17:2586777 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-209G>A single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000373968] Chr17:2593988 [GRCh38]
Chr17:2497282 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1934_*1935del deletion Lissencephaly/Subcortical Band Heterotopia [RCV000393722] Chr17:2683734..2683735 [GRCh38]
Chr17:2587028..2587029 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.*3528C>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000327137] Chr17:2685330 [GRCh38]
Chr17:2588624 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*1795A>G single nucleotide variant Lissencephaly/Subcortical Band Heterotopia [RCV000342590] Chr17:2683597 [GRCh38]
Chr17:2586891 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.*3331dup duplication Lissencephaly/Subcortical Band Heterotopia [RCV000360747] Chr17:2685127..2685128 [GRCh38]
Chr17:2588421..2588422 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.400-13G>A single nucleotide variant not provided [RCV002063246]|not specified [RCV000603869] Chr17:2670150 [GRCh38]
Chr17:2573444 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn) single nucleotide variant not provided [RCV000591042] Chr17:2670184 [GRCh38]
Chr17:2573478 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.690C>T (p.Phe230=) single nucleotide variant not provided [RCV002066636]|not specified [RCV000605715] Chr17:2674078 [GRCh38]
Chr17:2577372 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=) single nucleotide variant not provided [RCV002061012]|not specified [RCV000732638] Chr17:2680271 [GRCh38]
Chr17:2583565 [GRCh37]
Chr17:17p13.3		 benign|likely benign
GRCh37/hg19 17p13.3(chr17:48858-2940028)x1 copy number loss See cases [RCV000449220] Chr17:48858..2940028 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 copy number loss See cases [RCV000446045] Chr17:525..2518160 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1 copy number loss See cases [RCV000446462] Chr17:1936753..2901448 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1159+1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000502763]|not provided [RCV000424252] Chr17:2680321 [GRCh38]
Chr17:2583615 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
NM_000430.4(PAFAH1B1):c.33-1G>C single nucleotide variant not provided [RCV000441930] Chr17:2665371 [GRCh38]
Chr17:2568665 [GRCh37]
Chr17:17p13.3		 likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 copy number loss See cases [RCV000447687] Chr17:525..2891302 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2336350-2548911)x3 copy number gain See cases [RCV000512064] Chr17:2336350..2548911 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.117_117+2del deletion not provided [RCV000482585] Chr17:2665454..2665456 [GRCh38]
Chr17:2568748..2568750 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer) indel not provided [RCV000483846] Chr17:2676561..2676565 [GRCh38]
Chr17:2579855..2579859 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000500981] Chr17:2674288 [GRCh38]
Chr17:2577582 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG indel not specified [RCV000501176] Chr17:2665364..2665365 [GRCh38]
Chr17:2568658..2568659 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 copy number loss See cases [RCV000510381] Chr17:525..2750745 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.568+1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000504157] Chr17:2670332 [GRCh38]
Chr17:2573626 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000504340] Chr17:2674287 [GRCh38]
Chr17:2577581 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser) single nucleotide variant not specified [RCV000500121] Chr17:2665397 [GRCh38]
Chr17:2568691 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs) duplication Lissencephaly due to LIS1 mutation [RCV000502531] Chr17:2670276..2670277 [GRCh38]
Chr17:2573570..2573571 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile) single nucleotide variant not provided [RCV001857140]|not specified [RCV000502563] Chr17:2674182 [GRCh38]
Chr17:2577476 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000709855]|not provided [RCV001696917] Chr17:2681759 [GRCh38]
Chr17:2585053 [GRCh37]
Chr17:17p13.3		 likely pathogenic|uncertain significance|not provided
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3 copy number gain See cases [RCV000511855] Chr17:1922768..3429136 [GRCh37]
Chr17:17p13.3-13.2		 likely pathogenic
GRCh37/hg19 17p13.3(chr17:1997443-2825460)x1 copy number loss See cases [RCV000511094] Chr17:1997443..2825460 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2577769-2819869)x3 copy number gain See cases [RCV000511035] Chr17:2577769..2819869 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Lissencephaly [RCV000626515] Chr17:2339561..2826073 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:1361431-2573023) copy number loss Lissencephaly [RCV000626514] Chr17:1361431..2573023 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.11:g.(?_2638238)_(2638345_?)del deletion Lissencephaly due to LIS1 mutation [RCV000585819] Chr17:2638238..2638345 [GRCh38]
Chr17:2541532..2541639 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NC_000017.11:g.(?_2680139)_(2681852_?)del deletion Lissencephaly due to LIS1 mutation [RCV000585868] Chr17:2680139..2681852 [GRCh38]
Chr17:2583433..2585146 [GRCh37]
Chr17:17p13.3		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162) copy number loss Lissencephaly [RCV000626516] Chr17:2339561..3447162 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3(chr17:2319574-2771202)x3 copy number gain See cases [RCV000512230] Chr17:2319574..2771202 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:2213316-2901583)x3 copy number gain See cases [RCV000512436] Chr17:2213316..2901583 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.117+5G>C single nucleotide variant not provided [RCV000658295] Chr17:2665461 [GRCh38]
Chr17:2568755 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV000680056]|not provided [RCV002544696] Chr17:2674240 [GRCh38]
Chr17:2577534 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs) deletion Lissencephaly due to LIS1 mutation [RCV000677424] Chr17:2666074 [GRCh38]
Chr17:2569368 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_000430.4(PAFAH1B1):c.-190-251A>G single nucleotide variant not provided [RCV001546348] Chr17:2637848 [GRCh38]
Chr17:2541142 [GRCh37]
Chr17:17p13.3		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 copy number gain Partial agenesis of the corpus callosum [RCV000754117] Chr17:1..2538512 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3(chr17:2545473-2996656)x3 copy number gain not provided [RCV000739369] Chr17:2545473..2996656 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.33-74T>C single nucleotide variant not provided [RCV001574995] Chr17:2665298 [GRCh38]
Chr17:2568592 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn) single nucleotide variant not provided [RCV000762194] Chr17:2674072 [GRCh38]
Chr17:2577366 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter) single nucleotide variant not provided [RCV000760706] Chr17:2665401 [GRCh38]
Chr17:2568695 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2325226-2808483)x1 copy number loss not provided [RCV001006855] Chr17:2325226..2808483 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2416838-2784745)x1 copy number loss not provided [RCV001006856] Chr17:2416838..2784745 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.671+307G>A single nucleotide variant not provided [RCV001581699] Chr17:2673064 [GRCh38]
Chr17:2576358 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1003-180G>A single nucleotide variant not provided [RCV001547080] Chr17:2679984 [GRCh38]
Chr17:2583278 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1002+100G>A single nucleotide variant not provided [RCV001552198] Chr17:2676706 [GRCh38]
Chr17:2580000 [GRCh37]
Chr17:17p13.3		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3(chr17:2498767-2529611)x3 copy number gain not provided [RCV000751901] Chr17:2498767..2529611 [GRCh37]
Chr17:17p13.3		 benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.117+1G>C single nucleotide variant not provided [RCV001581891] Chr17:2665457 [GRCh38]
Chr17:2568751 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.672-8A>C single nucleotide variant not provided [RCV000917570] Chr17:2674052 [GRCh38]
Chr17:2577346 [GRCh37]
Chr17:17p13.3		 likely benign
NC_000017.11:g.2670358C>T single nucleotide variant not provided [RCV000833469] Chr17:2573652 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.672-263C>T single nucleotide variant not provided [RCV000833470] Chr17:2673797 [GRCh38]
Chr17:2577091 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.672-177A>T single nucleotide variant not provided [RCV000833949] Chr17:2673883 [GRCh38]
Chr17:2577177 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.568+233C>T single nucleotide variant not provided [RCV000826566] Chr17:2670564 [GRCh38]
Chr17:2573858 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.569-330G>A single nucleotide variant not provided [RCV000833342] Chr17:2672325 [GRCh38]
Chr17:2575619 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.400-284A>G single nucleotide variant not provided [RCV000826305] Chr17:2669879 [GRCh38]
Chr17:2573173 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.901-346T>C single nucleotide variant not provided [RCV000826307] Chr17:2676159 [GRCh38]
Chr17:2579453 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.1160-77G>A single nucleotide variant not provided [RCV000832289] Chr17:2681652 [GRCh38]
Chr17:2584946 [GRCh37]
Chr17:17p13.3		 benign
GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3 copy number gain not provided [RCV000848392] Chr17:1501331..2832123 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3(chr17:2494580-2538513)x3 copy number gain not provided [RCV000848511] Chr17:2494580..2538513 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3(chr17:2172709-2646895)x1 copy number loss not provided [RCV000847536] Chr17:2172709..2646895 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.569-9G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001195851]|not provided [RCV003727948] Chr17:2672646 [GRCh38]
Chr17:2575940 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001198277] Chr17:2680303 [GRCh38]
Chr17:2583597 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.863G>T (p.Ser288Ile) single nucleotide variant not specified [RCV004782162] Chr17:2674251 [GRCh38]
Chr17:2577545 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.941G>T (p.Gly314Val) single nucleotide variant not provided [RCV000996450] Chr17:2676545 [GRCh38]
Chr17:2579839 [GRCh37]
Chr17:17p13.3		 likely pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.1160-189G>T single nucleotide variant not provided [RCV001572034] Chr17:2681540 [GRCh38]
Chr17:2584834 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+146dup duplication not provided [RCV001560285] Chr17:2667333..2667334 [GRCh38]
Chr17:2570627..2570628 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.671+320dup duplication not provided [RCV001721001] Chr17:2673068..2673069 [GRCh38]
Chr17:2576362..2576363 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.901-79C>G single nucleotide variant not provided [RCV001641554] Chr17:2676426 [GRCh38]
Chr17:2579720 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.-191+1560A>G single nucleotide variant not provided [RCV001617561] Chr17:2595566 [GRCh38]
Chr17:2498860 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.399+7T>G single nucleotide variant not provided [RCV000890575] Chr17:2667205 [GRCh38]
Chr17:2570499 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-191+3737TC[2] microsatellite not provided [RCV001541360] Chr17:2597743..2597746 [GRCh38]
Chr17:2501037..2501040 [GRCh37]
Chr17:17p13.3		 benign
GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1 copy number loss not provided [RCV002472617] Chr17:2161424..2825460 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3 copy number gain not provided [RCV002472591] Chr17:1095592..3484368 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.623T>C (p.Val208Ala) single nucleotide variant not provided [RCV002255074] Chr17:2672709 [GRCh38]
Chr17:2576003 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.569-234G>T single nucleotide variant not provided [RCV001555133] Chr17:2672421 [GRCh38]
Chr17:2575715 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.901-256G>A single nucleotide variant not provided [RCV001550776] Chr17:2676249 [GRCh38]
Chr17:2579543 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.485G>A (p.Gly162Asp) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002466347] Chr17:2670248 [GRCh38]
Chr17:2573542 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NC_000017.11:g.2688360_2784321del deletion Chromosome 15q11.2 deletion syndrome [RCV001263450] Chr17:2688360..2784321 [GRCh38]
Chr17:2591654..2687615 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.-191+3776GT[10] microsatellite not provided [RCV001721580] Chr17:2597781..2597782 [GRCh38]
Chr17:2501075..2501076 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.901-209T>G single nucleotide variant not provided [RCV001657513] Chr17:2676296 [GRCh38]
Chr17:2579590 [GRCh37]
Chr17:17p13.3		 benign
NC_000017.11:g.2593443C>T single nucleotide variant not provided [RCV001637945] Chr17:2593443 [GRCh38]
Chr17:2496737 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.568+281T>G single nucleotide variant not provided [RCV001638463] Chr17:2670612 [GRCh38]
Chr17:2573906 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.192+174T>C single nucleotide variant not provided [RCV001615020] Chr17:2666264 [GRCh38]
Chr17:2569558 [GRCh37]
Chr17:17p13.3		 benign
GRCh37/hg19 17p13.3(chr17:2312341-2555984)x3 copy number gain not provided [RCV001006854] Chr17:2312341..2555984 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.33-181_33-180del deletion not provided [RCV001725639] Chr17:2665191..2665192 [GRCh38]
Chr17:2568485..2568486 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.743_746dup (p.Ala250fs) duplication not provided [RCV001041792] Chr17:2674130..2674131 [GRCh38]
Chr17:2577424..2577425 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001197820]|not provided [RCV002298899] Chr17:2672747 [GRCh38]
Chr17:2576041 [GRCh37]
Chr17:17p13.3		 likely pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.967T>A (p.Trp323Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001031005] Chr17:2676571 [GRCh38]
Chr17:2579865 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001262146] Chr17:2666038 [GRCh38]
Chr17:2569332 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1087C>T (p.Arg363Cys) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001262144]|not provided [RCV003738029] Chr17:2680248 [GRCh38]
Chr17:2583542 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro) single nucleotide variant Lissencephaly [RCV001291188] Chr17:2674131 [GRCh38]
Chr17:2577425 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del deletion Lissencephaly [RCV001291192]   likely pathogenic
NM_000430.4(PAFAH1B1):c.1003-234T>C single nucleotide variant not provided [RCV001581660] Chr17:2679930 [GRCh38]
Chr17:2583224 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.680_681del (p.Val227fs) microsatellite Lissencephaly [RCV001291186] Chr17:2674064..2674065 [GRCh38]
Chr17:2577358..2577359 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.721del (p.Arg241fs) deletion Lissencephaly [RCV001291187] Chr17:2674109 [GRCh38]
Chr17:2577403 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.3:c.(?_-30)_(*220_?)del deletion Lissencephaly [RCV001291193]   likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1 copy number loss not provided [RCV001537893] Chr17:2313096..3735525 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser) single nucleotide variant not provided [RCV001357602] Chr17:2680291 [GRCh38]
Chr17:2583585 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.681dup (p.Lys228fs) duplication Lissencephaly due to LIS1 mutation [RCV001507104] Chr17:2674068..2674069 [GRCh38]
Chr17:2577362..2577363 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.368T>A (p.Met123Lys) single nucleotide variant Abnormal cortical gyration [RCV001391270] Chr17:2667167 [GRCh38]
Chr17:2570461 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1160-133G>T single nucleotide variant not provided [RCV001653303] Chr17:2681596 [GRCh38]
Chr17:2584890 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.1159+6T>A single nucleotide variant not provided [RCV001509543] Chr17:2680326 [GRCh38]
Chr17:2583620 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.240G>A (p.Thr80=) single nucleotide variant not provided [RCV001424395] Chr17:2667039 [GRCh38]
Chr17:2570333 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.635G>A (p.Arg212Lys) single nucleotide variant not provided [RCV001766903] Chr17:2672721 [GRCh38]
Chr17:2576015 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-191+1593G>T single nucleotide variant not provided [RCV001786067] Chr17:2595599 [GRCh38]
Chr17:2498893 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.936G>C (p.Leu312=) single nucleotide variant not provided [RCV001752229] Chr17:2676540 [GRCh38]
Chr17:2579834 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV001788496] Chr17:2680297 [GRCh38]
Chr17:2583591 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.353C>G (p.Pro118Arg) single nucleotide variant not provided [RCV001773081] Chr17:2667152 [GRCh38]
Chr17:2570446 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.11:g.2593327C>T single nucleotide variant not provided [RCV001779832] Chr17:2593327 [GRCh38]
Chr17:2496621 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.470C>T (p.Ser157Leu) single nucleotide variant not provided [RCV001765686] Chr17:2670233 [GRCh38]
Chr17:2573527 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-191+1431_-191+1432insTTCTT microsatellite not provided [RCV001732805] Chr17:2595435..2595436 [GRCh38]
Chr17:2498729..2498730 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter) single nucleotide variant not provided [RCV001817733] Chr17:2674096 [GRCh38]
Chr17:2577390 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter) single nucleotide variant not provided [RCV001817970] Chr17:2666062 [GRCh38]
Chr17:2569356 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs) duplication not provided [RCV001817754] Chr17:2667045..2667046 [GRCh38]
Chr17:2570339..2570340 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs) duplication Lissencephaly due to LIS1 mutation [RCV001814882]|not provided [RCV001869631] Chr17:2680242..2680243 [GRCh38]
Chr17:2583536..2583537 [GRCh37]
Chr17:17p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.1009_1022del (p.His337fs) deletion Lissencephaly due to LIS1 mutation [RCV003985535]|not provided [RCV001949590] Chr17:2680165..2680178 [GRCh38]
Chr17:2583459..2583472 [GRCh37]
Chr17:17p13.3		 pathogenic|not provided
NM_000430.4(PAFAH1B1):c.1011del (p.His337fs) deletion not provided [RCV001915021] Chr17:2680172 [GRCh38]
Chr17:2583466 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.738C>T (p.Gly246=) single nucleotide variant not provided [RCV002045455] Chr17:2674126 [GRCh38]
Chr17:2577420 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.449C>T (p.Thr150Ile) single nucleotide variant not provided [RCV001971067] Chr17:2670212 [GRCh38]
Chr17:2573506 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.841T>G (p.Cys281Gly) single nucleotide variant not provided [RCV002009346] Chr17:2674229 [GRCh38]
Chr17:2577523 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.901-6C>A single nucleotide variant not provided [RCV001896089] Chr17:2676499 [GRCh38]
Chr17:2579793 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.1199T>C (p.Val400Ala) single nucleotide variant not provided [RCV001915250] Chr17:2681768 [GRCh38]
Chr17:2585062 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.566A>C (p.His189Pro) single nucleotide variant Inborn genetic diseases [RCV002554190]|not provided [RCV001927318] Chr17:2670329 [GRCh38]
Chr17:2573623 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.900+6G>A single nucleotide variant not provided [RCV001983637] Chr17:2674294 [GRCh38]
Chr17:2577588 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1088G>C (p.Arg363Pro) single nucleotide variant not provided [RCV001913898] Chr17:2680249 [GRCh38]
Chr17:2583543 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.51T>C (p.Asp17=) single nucleotide variant not provided [RCV001871147] Chr17:2665390 [GRCh38]
Chr17:2568684 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.721C>T (p.Arg241Trp) single nucleotide variant not provided [RCV001946099] Chr17:2674109 [GRCh38]
Chr17:2577403 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.400-1G>A single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002052081] Chr17:2670162 [GRCh38]
Chr17:2573456 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NC_000017.10:g.(?_2568646)_(2585096_?)dup duplication not provided [RCV002043136] Chr17:2568646..2585096 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.844A>G (p.Ile282Val) single nucleotide variant not provided [RCV002002107] Chr17:2674232 [GRCh38]
Chr17:2577526 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.-191+3794_-191+3795del deletion not provided [RCV001840851] Chr17:2597799..2597800 [GRCh38]
Chr17:2501093..2501094 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1072G>A (p.Asp358Asn) single nucleotide variant not provided [RCV001870809] Chr17:2680233 [GRCh38]
Chr17:2583527 [GRCh37]
Chr17:17p13.3		 likely pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.755G>C (p.Cys252Ser) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002492241]|not provided [RCV002038085] Chr17:2674143 [GRCh38]
Chr17:2577437 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.518C>G (p.Thr173Ser) single nucleotide variant not provided [RCV002038905] Chr17:2670281 [GRCh38]
Chr17:2573575 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.900+12A>G single nucleotide variant not provided [RCV002035237] Chr17:2674300 [GRCh38]
Chr17:2577594 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.176T>C (p.Ile59Thr) single nucleotide variant not provided [RCV001886594] Chr17:2666074 [GRCh38]
Chr17:2569368 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1159+15C>T single nucleotide variant not provided [RCV001938924] Chr17:2680335 [GRCh38]
Chr17:2583629 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NC_000017.10:g.(?_2573437)_(2573645_?)del deletion not provided [RCV001962615] Chr17:2573437..2573645 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.368T>C (p.Met123Thr) single nucleotide variant not provided [RCV001902509] Chr17:2667167 [GRCh38]
Chr17:2570461 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.171T>G (p.Ser57=) single nucleotide variant not provided [RCV001942077] Chr17:2666069 [GRCh38]
Chr17:2569363 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.592_597dup (p.Val198_Ala199dup) duplication not provided [RCV002050173] Chr17:2672677..2672678 [GRCh38]
Chr17:2575971..2575972 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1221G>A (p.Trp407Ter) single nucleotide variant not provided [RCV001962770] Chr17:2681790 [GRCh38]
Chr17:2585084 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.563T>C (p.Met188Thr) single nucleotide variant not provided [RCV001925336] Chr17:2670326 [GRCh38]
Chr17:2573620 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.794del (p.Thr265fs) deletion not provided [RCV001972709] Chr17:2674182 [GRCh38]
Chr17:2577476 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.116_117+2dup duplication not provided [RCV001900436] Chr17:2665454..2665455 [GRCh38]
Chr17:2568748..2568749 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg) single nucleotide variant Abnormal cerebral morphology [RCV002275271]|not provided [RCV002046944] Chr17:2667086 [GRCh38]
Chr17:2570380 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV001932518] Chr17:2674110 [GRCh38]
Chr17:2577404 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.628G>T (p.Ala210Ser) single nucleotide variant not provided [RCV001935867] Chr17:2672714 [GRCh38]
Chr17:2576008 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1090G>T (p.Val364Leu) single nucleotide variant not provided [RCV001975444] Chr17:2680251 [GRCh38]
Chr17:2583545 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.646A>G (p.Ile216Val) single nucleotide variant PAFAH1B1-related disorder [RCV003401867]|not provided [RCV001915770] Chr17:2672732 [GRCh38]
Chr17:2576026 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu) single nucleotide variant not provided [RCV001972073]|not specified [RCV003401921] Chr17:2680207 [GRCh38]
Chr17:2583501 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.475G>A (p.Asp159Asn) single nucleotide variant not provided [RCV001989297] Chr17:2670238 [GRCh38]
Chr17:2573532 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NM_000430.4(PAFAH1B1):c.643del (p.Thr215fs) deletion not provided [RCV001900146] Chr17:2672726 [GRCh38]
Chr17:2576020 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.656G>A (p.Trp219Ter) single nucleotide variant not provided [RCV001975083] Chr17:2672742 [GRCh38]
Chr17:2576036 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.843C>A (p.Cys281Ter) single nucleotide variant not provided [RCV001898991] Chr17:2674231 [GRCh38]
Chr17:2577525 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.889A>G (p.Thr297Ala) single nucleotide variant not provided [RCV001940861] Chr17:2674277 [GRCh38]
Chr17:2577571 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1075G>T (p.Asp359Tyr) single nucleotide variant not provided [RCV001939166] Chr17:2680236 [GRCh38]
Chr17:2583530 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.427G>T (p.Glu143Ter) single nucleotide variant not provided [RCV001922848] Chr17:2670190 [GRCh38]
Chr17:2573484 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.644C>G (p.Thr215Ser) single nucleotide variant not provided [RCV001906634] Chr17:2672730 [GRCh38]
Chr17:2576024 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.973G>A (p.Val325Ile) single nucleotide variant not provided [RCV001919950] Chr17:2676577 [GRCh38]
Chr17:2579871 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser) single nucleotide variant Inborn genetic diseases [RCV002547929]|Lissencephaly due to LIS1 mutation [RCV002489971]|PAFAH1B1-related disorder [RCV003911057]|not provided [RCV001870045] Chr17:2672694 [GRCh38]
Chr17:2575988 [GRCh37]
Chr17:17p13.3		 benign|likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.59G>A (p.Arg20His) single nucleotide variant not provided [RCV001981547] Chr17:2665398 [GRCh38]
Chr17:2568692 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.987G>A (p.Met329Ile) single nucleotide variant not provided [RCV001992000] Chr17:2676591 [GRCh38]
Chr17:2579885 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2541583)_(2541634_?)dup duplication not provided [RCV002011463] Chr17:2541583..2541634 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.155A>G (p.Glu52Gly) single nucleotide variant not provided [RCV001930867] Chr17:2666053 [GRCh38]
Chr17:2569347 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.43A>G (p.Ile15Val) single nucleotide variant not provided [RCV001917617] Chr17:2665382 [GRCh38]
Chr17:2568676 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.247_252dup (p.Gly83_Pro84dup) duplication not provided [RCV002010284] Chr17:2667044..2667045 [GRCh38]
Chr17:2570338..2570339 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.431G>C (p.Arg144Pro) single nucleotide variant not provided [RCV002034390] Chr17:2670194 [GRCh38]
Chr17:2573488 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.253C>T (p.Leu85Phe) single nucleotide variant not provided [RCV001939179] Chr17:2667052 [GRCh38]
Chr17:2570346 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2568646)_(2585096_?)del deletion not provided [RCV001925504] Chr17:2568646..2585096 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1186G>A (p.Val396Ile) single nucleotide variant not provided [RCV001904021] Chr17:2681755 [GRCh38]
Chr17:2585049 [GRCh37]
Chr17:17p13.3		 likely benign|uncertain significance
NM_000430.4(PAFAH1B1):c.422A>G (p.Asp141Gly) single nucleotide variant not provided [RCV001904227] Chr17:2670185 [GRCh38]
Chr17:2573479 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2573437)_(2585096_?)del deletion not provided [RCV001996049] Chr17:2573437..2585096 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.991C>A (p.Leu331Ile) single nucleotide variant not provided [RCV001916186] Chr17:2676595 [GRCh38]
Chr17:2579889 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.400-15C>G single nucleotide variant not provided [RCV002148607] Chr17:2670148 [GRCh38]
Chr17:2573442 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.75A>G (p.Glu25=) single nucleotide variant not provided [RCV002126915] Chr17:2665414 [GRCh38]
Chr17:2568708 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.901-13A>T single nucleotide variant not provided [RCV002207301] Chr17:2676492 [GRCh38]
Chr17:2579786 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.900+10del deletion not provided [RCV002207608] Chr17:2674298 [GRCh38]
Chr17:2577592 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.483C>T (p.Ser161=) single nucleotide variant not provided [RCV002127361] Chr17:2670246 [GRCh38]
Chr17:2573540 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.849C>G (p.Ser283=) single nucleotide variant not provided [RCV002087297] Chr17:2674237 [GRCh38]
Chr17:2577531 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.834G>C (p.Val278=) single nucleotide variant not provided [RCV002166693] Chr17:2674222 [GRCh38]
Chr17:2577516 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.900+10A>G single nucleotide variant not provided [RCV002104565] Chr17:2674298 [GRCh38]
Chr17:2577592 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.192+10T>C single nucleotide variant not provided [RCV002088470] Chr17:2666100 [GRCh38]
Chr17:2569394 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1229G>A (p.Arg410His) single nucleotide variant not provided [RCV002072786] Chr17:2681798 [GRCh38]
Chr17:2585092 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1131T>C (p.Asn377=) single nucleotide variant not provided [RCV002164832] Chr17:2680292 [GRCh38]
Chr17:2583586 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.447T>C (p.His149=) single nucleotide variant not provided [RCV002147711] Chr17:2670210 [GRCh38]
Chr17:2573504 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-191+4048A>G single nucleotide variant not provided [RCV002245127] Chr17:2598054 [GRCh38]
Chr17:2501348 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.787G>A (p.Val263Ile) single nucleotide variant not provided [RCV002205847] Chr17:2674175 [GRCh38]
Chr17:2577469 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.1160-20A>G single nucleotide variant not provided [RCV002196187] Chr17:2681709 [GRCh38]
Chr17:2585003 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1050G>A (p.Gly350=) single nucleotide variant not provided [RCV002086704] Chr17:2680211 [GRCh38]
Chr17:2583505 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+5T>C single nucleotide variant not provided [RCV002132303] Chr17:2667203 [GRCh38]
Chr17:2570497 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.1160-13C>A single nucleotide variant not provided [RCV002109445] Chr17:2681716 [GRCh38]
Chr17:2585010 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1185C>T (p.Val395=) single nucleotide variant not provided [RCV002116747] Chr17:2681754 [GRCh38]
Chr17:2585048 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1070C>G (p.Ala357Gly) single nucleotide variant not provided [RCV002149739] Chr17:2680231 [GRCh38]
Chr17:2583525 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1224G>A (p.Glu408=) single nucleotide variant not provided [RCV002173010] Chr17:2681793 [GRCh38]
Chr17:2585087 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1159+13C>T single nucleotide variant not provided [RCV002093594] Chr17:2680333 [GRCh38]
Chr17:2583627 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.33-14A>G single nucleotide variant not provided [RCV002095416] Chr17:2665358 [GRCh38]
Chr17:2568652 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+11G>C single nucleotide variant not provided [RCV002077815] Chr17:2667209 [GRCh38]
Chr17:2570503 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1002+12T>C single nucleotide variant not provided [RCV002207326] Chr17:2676618 [GRCh38]
Chr17:2579912 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1197C>T (p.Ser399=) single nucleotide variant not provided [RCV002197198] Chr17:2681766 [GRCh38]
Chr17:2585060 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.567C>T (p.His189=) single nucleotide variant PAFAH1B1-related disorder [RCV003978611]|not provided [RCV002094667] Chr17:2670330 [GRCh38]
Chr17:2573624 [GRCh37]
Chr17:17p13.3		 benign|likely benign
NM_000430.4(PAFAH1B1):c.117+17A>G single nucleotide variant not provided [RCV002151775] Chr17:2665473 [GRCh38]
Chr17:2568767 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1003-9G>C single nucleotide variant not provided [RCV002150182] Chr17:2680155 [GRCh38]
Chr17:2583449 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.933G>A (p.Leu311=) single nucleotide variant not provided [RCV002089121] Chr17:2676537 [GRCh38]
Chr17:2579831 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.568+8del deletion not provided [RCV002132289] Chr17:2670336 [GRCh38]
Chr17:2573630 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.798G>A (p.Lys266=) single nucleotide variant not provided [RCV002175434] Chr17:2674186 [GRCh38]
Chr17:2577480 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.900+18G>A single nucleotide variant not provided [RCV002175442] Chr17:2674306 [GRCh38]
Chr17:2577600 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1159+14G>A single nucleotide variant not provided [RCV002101929] Chr17:2680334 [GRCh38]
Chr17:2583628 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.123A>G (p.Glu41=) single nucleotide variant not provided [RCV002135843] Chr17:2666021 [GRCh38]
Chr17:2569315 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.568+2T>C single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002249118] Chr17:2670333 [GRCh38]
Chr17:2573627 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.117+8T>C single nucleotide variant not provided [RCV002119533] Chr17:2665464 [GRCh38]
Chr17:2568758 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1003-11T>C single nucleotide variant not provided [RCV002141521]|not specified [RCV004782882] Chr17:2680153 [GRCh38]
Chr17:2583447 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.402G>A (p.Val134=) single nucleotide variant not provided [RCV002217036] Chr17:2670165 [GRCh38]
Chr17:2573459 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1160-17A>G single nucleotide variant not provided [RCV002217719] Chr17:2681712 [GRCh38]
Chr17:2585006 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.193-16C>T single nucleotide variant not provided [RCV002184140] Chr17:2666976 [GRCh38]
Chr17:2570270 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.501C>T (p.Ser167=) single nucleotide variant not provided [RCV002119269] Chr17:2670264 [GRCh38]
Chr17:2573558 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1159+8C>T single nucleotide variant not provided [RCV002083729] Chr17:2680328 [GRCh38]
Chr17:2583622 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.343A>G (p.Ile115Val) single nucleotide variant not provided [RCV002103723] Chr17:2667142 [GRCh38]
Chr17:2570436 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.1083C>G (p.Thr361=) single nucleotide variant not provided [RCV002184716] Chr17:2680244 [GRCh38]
Chr17:2583538 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.711A>G (p.Val237=) single nucleotide variant not provided [RCV002198696] Chr17:2674099 [GRCh38]
Chr17:2577393 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.915T>C (p.Gly305=) single nucleotide variant not provided [RCV002198785] Chr17:2676519 [GRCh38]
Chr17:2579813 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+18G>T single nucleotide variant not provided [RCV002118885] Chr17:2667216 [GRCh38]
Chr17:2570510 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+3A>G single nucleotide variant not provided [RCV002178585] Chr17:2667201 [GRCh38]
Chr17:2570495 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.357G>T (p.Val119=) single nucleotide variant not provided [RCV002201335] Chr17:2667156 [GRCh38]
Chr17:2570450 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1080G>A (p.Lys360=) single nucleotide variant not provided [RCV002175273] Chr17:2680241 [GRCh38]
Chr17:2583535 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+11G>A single nucleotide variant not provided [RCV002119638] Chr17:2667209 [GRCh38]
Chr17:2570503 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.177T>A (p.Ile59=) single nucleotide variant not provided [RCV002121736] Chr17:2666075 [GRCh38]
Chr17:2569369 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-191+1473_-191+1474del deletion not provided [RCV002221732]   likely benign
NM_000430.4(PAFAH1B1):c.117+18C>T single nucleotide variant not provided [RCV002199036] Chr17:2665474 [GRCh38]
Chr17:2568768 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.456T>C (p.Ser152=) single nucleotide variant not provided [RCV002178901] Chr17:2670219 [GRCh38]
Chr17:2573513 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1212A>T (p.Val404=) single nucleotide variant not provided [RCV002178678] Chr17:2681781 [GRCh38]
Chr17:2585075 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1002+20C>A single nucleotide variant not provided [RCV002122540] Chr17:2676626 [GRCh38]
Chr17:2579920 [GRCh37]
Chr17:17p13.3		 likely benign
NC_000017.10:g.(?_2585003)_(2585096_?)del deletion not provided [RCV003111213] Chr17:2585003..2585096 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2541583)_(2573645_?)del deletion not provided [RCV003111214] Chr17:2541583..2573645 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2568646)_(2570512_?)del deletion not provided [RCV003111215] Chr17:2568646..2570512 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2573437)_(2576071_?)del deletion not provided [RCV003111216] Chr17:2573437..2576071 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2583438)_(2585096_?)dup duplication not provided [RCV003111217] Chr17:2583438..2585096 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2568646)_(2579920_?)dup duplication not provided [RCV003111218] Chr17:2568646..2579920 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2569290)_(2576071_?)dup duplication not provided [RCV003111219] Chr17:2569290..2576071 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1213A>C (p.Lys405Gln) single nucleotide variant not provided [RCV004784422] Chr17:2681782 [GRCh38]
Chr17:2585076 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.11:g.2665367T>C single nucleotide variant Lissencephaly due to LIS1 mutation [RCV003232907]   pathogenic
NM_000430.4(PAFAH1B1):c.399+134_399+135insA insertion not provided [RCV002272098] Chr17:2667332..2667333 [GRCh38]
Chr17:2570626..2570627 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-190-8934C>G single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002266802] Chr17:2629165 [GRCh38]
Chr17:2532459 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.521_523dup (p.Ile174_Lys175insIle) duplication Abnormal cerebral morphology [RCV002275915] Chr17:2670282..2670283 [GRCh38]
Chr17:2573576..2573577 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.425T>C (p.Phe142Ser) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002267793] Chr17:2670188 [GRCh38]
Chr17:2573482 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs) deletion not provided [RCV002262530] Chr17:2676557..2676558 [GRCh38]
Chr17:2579851..2579852 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.449C>A (p.Thr150Lys) single nucleotide variant not provided [RCV002290915] Chr17:2670212 [GRCh38]
Chr17:2573506 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.364G>C (p.Val122Leu) single nucleotide variant not provided [RCV003149502] Chr17:2667163 [GRCh38]
Chr17:2570457 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.116T>C (p.Val39Ala) single nucleotide variant See cases [RCV003128476] Chr17:2665455 [GRCh38]
Chr17:2568749 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.774G>A (p.Val258=) single nucleotide variant PAFAH1B1-related disorder [RCV003898556]|not provided [RCV002858137] Chr17:2674162 [GRCh38]
Chr17:2577456 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.95A>G (p.Lys32Arg) single nucleotide variant not provided [RCV002303981] Chr17:2665434 [GRCh38]
Chr17:2568728 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.966G>A (p.Met322Ile) single nucleotide variant not provided [RCV002299874] Chr17:2676570 [GRCh38]
Chr17:2579864 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.490C>T (p.Leu164Phe) single nucleotide variant not provided [RCV002294986] Chr17:2670253 [GRCh38]
Chr17:2573547 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1003-4del deletion not provided [RCV002815457] Chr17:2680156 [GRCh38]
Chr17:2583450 [GRCh37]
Chr17:17p13.3		 benign
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1 copy number loss not provided [RCV002511888] Chr17:2575949..2579900 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1087C>G (p.Arg363Gly) single nucleotide variant not provided [RCV002462563] Chr17:2680248 [GRCh38]
Chr17:2583542 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.333C>T (p.Val111=) single nucleotide variant not provided [RCV002975567] Chr17:2667132 [GRCh38]
Chr17:2570426 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.748G>A (p.Ala250Thr) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV002463395] Chr17:2674136 [GRCh38]
Chr17:2577430 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1003-9del deletion not provided [RCV002842695] Chr17:2680155 [GRCh38]
Chr17:2583449 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.306T>C (p.Tyr102=) single nucleotide variant not provided [RCV003095790] Chr17:2667105 [GRCh38]
Chr17:2570399 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.21A>G (p.Gln7=) single nucleotide variant not provided [RCV002862264] Chr17:2638309 [GRCh38]
Chr17:2541603 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.568+4del deletion not provided [RCV002881589] Chr17:2670334 [GRCh38]
Chr17:2573628 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.105T>C (p.Ala35=) single nucleotide variant not provided [RCV002819506] Chr17:2665444 [GRCh38]
Chr17:2568738 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.892G>C (p.Gly298Arg) single nucleotide variant not provided [RCV003034953] Chr17:2674280 [GRCh38]
Chr17:2577574 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1003-10dup duplication not provided [RCV002800354] Chr17:2680148..2680149 [GRCh38]
Chr17:2583442..2583443 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.762T>C (p.Asn254=) single nucleotide variant not provided [RCV002638822] Chr17:2674150 [GRCh38]
Chr17:2577444 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.283A>G (p.Ile95Val) single nucleotide variant not provided [RCV002736140] Chr17:2667082 [GRCh38]
Chr17:2570376 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.528A>G (p.Leu176=) single nucleotide variant not provided [RCV002593009] Chr17:2670291 [GRCh38]
Chr17:2573585 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1002+1G>C single nucleotide variant not provided [RCV002797096] Chr17:2676607 [GRCh38]
Chr17:2579901 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.895T>A (p.Ser299Thr) single nucleotide variant not provided [RCV002796036] Chr17:2674283 [GRCh38]
Chr17:2577577 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.426T>C (p.Phe142=) single nucleotide variant not provided [RCV002909417] Chr17:2670189 [GRCh38]
Chr17:2573483 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1159+9G>A single nucleotide variant not provided [RCV002948758] Chr17:2680329 [GRCh38]
Chr17:2583623 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.901-1G>A single nucleotide variant not provided [RCV002867930] Chr17:2676504 [GRCh38]
Chr17:2579798 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.193-14T>C single nucleotide variant not provided [RCV002847279] Chr17:2666978 [GRCh38]
Chr17:2570272 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1145_1146del (p.Phe382fs) deletion not provided [RCV003002274] Chr17:2680305..2680306 [GRCh38]
Chr17:2583599..2583600 [GRCh37]
Chr17:17p13.3		 pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.1021G>C (p.Val341Leu) single nucleotide variant not provided [RCV003077579] Chr17:2680182 [GRCh38]
Chr17:2583476 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.735T>C (p.Asp245=) single nucleotide variant not provided [RCV003018248] Chr17:2674123 [GRCh38]
Chr17:2577417 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1134G>C (p.Ala378=) single nucleotide variant not provided [RCV003054343] Chr17:2680295 [GRCh38]
Chr17:2583589 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs) deletion not provided [RCV002820698] Chr17:2666051 [GRCh38]
Chr17:2569345 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.867A>G (p.Ser289=) single nucleotide variant not provided [RCV002785535] Chr17:2674255 [GRCh38]
Chr17:2577549 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1003-9G>T single nucleotide variant not provided [RCV002885798] Chr17:2680155 [GRCh38]
Chr17:2583449 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.801A>G (p.Glu267=) single nucleotide variant not provided [RCV002592327] Chr17:2674189 [GRCh38]
Chr17:2577483 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.32+2dup duplication not provided [RCV002791431] Chr17:2638321..2638322 [GRCh38]
Chr17:2541615..2541616 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.207A>G (p.Glu69=) single nucleotide variant not provided [RCV003007196] Chr17:2667006 [GRCh38]
Chr17:2570300 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1112del (p.Arg371fs) deletion not provided [RCV002875849] Chr17:2680273 [GRCh38]
Chr17:2583567 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1159+15C>A single nucleotide variant not provided [RCV002917299] Chr17:2680335 [GRCh38]
Chr17:2583629 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.599T>C (p.Ile200Thr) single nucleotide variant not provided [RCV003057250] Chr17:2672685 [GRCh38]
Chr17:2575979 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.671+15T>C single nucleotide variant not provided [RCV002786256] Chr17:2672772 [GRCh38]
Chr17:2576066 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.930C>T (p.Phe310=) single nucleotide variant not provided [RCV002954137] Chr17:2676534 [GRCh38]
Chr17:2579828 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.955A>G (p.Thr319Ala) single nucleotide variant not provided [RCV003040507] Chr17:2676559 [GRCh38]
Chr17:2579853 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1160-3C>T single nucleotide variant not provided [RCV002825686] Chr17:2681726 [GRCh38]
Chr17:2585020 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1003-4_1003-3insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTTTTTTGTTTTT insertion not provided [RCV002852278] Chr17:2680147..2680148 [GRCh38]
Chr17:2583441..2583442 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.252T>C (p.Pro84=) single nucleotide variant not provided [RCV002625555] Chr17:2667051 [GRCh38]
Chr17:2570345 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.901-14T>C single nucleotide variant not provided [RCV002890063] Chr17:2676491 [GRCh38]
Chr17:2579785 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.338G>A (p.Arg113Gln) single nucleotide variant not provided [RCV003006371] Chr17:2667137 [GRCh38]
Chr17:2570431 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.481A>G (p.Ser161Gly) single nucleotide variant not provided [RCV002932075] Chr17:2670244 [GRCh38]
Chr17:2573538 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1002+10C>T single nucleotide variant not provided [RCV003056560] Chr17:2676616 [GRCh38]
Chr17:2579910 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.901-4G>A single nucleotide variant not provided [RCV003024415] Chr17:2676501 [GRCh38]
Chr17:2579795 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1014T>C (p.Asp338=) single nucleotide variant not provided [RCV002851154] Chr17:2680175 [GRCh38]
Chr17:2583469 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.672-12_672-9del microsatellite not provided [RCV003022146] Chr17:2674044..2674047 [GRCh38]
Chr17:2577338..2577341 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.453C>T (p.Asp151=) single nucleotide variant not provided [RCV003006421] Chr17:2670216 [GRCh38]
Chr17:2573510 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1081A>T (p.Thr361Ser) single nucleotide variant not provided [RCV002811733] Chr17:2680242 [GRCh38]
Chr17:2583536 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1160-8T>A single nucleotide variant not provided [RCV003046742] Chr17:2681721 [GRCh38]
Chr17:2585015 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1089C>T (p.Arg363=) single nucleotide variant not provided [RCV003063361] Chr17:2680250 [GRCh38]
Chr17:2583544 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1138G>C (p.Glu380Gln) single nucleotide variant not provided [RCV003043798] Chr17:2680299 [GRCh38]
Chr17:2583593 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.416C>G (p.Thr139Ser) single nucleotide variant Inborn genetic diseases [RCV002832568] Chr17:2670179 [GRCh38]
Chr17:2573473 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1160-7C>T single nucleotide variant not provided [RCV002856955] Chr17:2681722 [GRCh38]
Chr17:2585016 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.569-6T>C single nucleotide variant not provided [RCV002899271] Chr17:2672649 [GRCh38]
Chr17:2575943 [GRCh37]
Chr17:17p13.3		 pathogenic|uncertain significance
NM_000430.4(PAFAH1B1):c.522T>C (p.Ile174=) single nucleotide variant not provided [RCV002646054] Chr17:2670285 [GRCh38]
Chr17:2573579 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.293C>T (p.Pro98Leu) single nucleotide variant not provided [RCV003087696] Chr17:2667092 [GRCh38]
Chr17:2570386 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.568+8G>T single nucleotide variant not provided [RCV002937179] Chr17:2670339 [GRCh38]
Chr17:2573633 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.477C>T (p.Asp159=) single nucleotide variant not provided [RCV002835111] Chr17:2670240 [GRCh38]
Chr17:2573534 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.714T>C (p.Arg238=) single nucleotide variant not provided [RCV003026448] Chr17:2674102 [GRCh38]
Chr17:2577396 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.769A>G (p.Thr257Ala) single nucleotide variant not provided [RCV002647280] Chr17:2674157 [GRCh38]
Chr17:2577451 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1172C>T (p.Thr391Met) single nucleotide variant not provided [RCV002933507] Chr17:2681741 [GRCh38]
Chr17:2585035 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.254T>A (p.Leu85His) single nucleotide variant not provided [RCV003089427] Chr17:2667053 [GRCh38]
Chr17:2570347 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.192+7_192+10del deletion not provided [RCV003043941] Chr17:2666096..2666099 [GRCh38]
Chr17:2569390..2569393 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.193-7T>C single nucleotide variant not provided [RCV002899665] Chr17:2666985 [GRCh38]
Chr17:2570279 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.629C>A (p.Ala210Asp) single nucleotide variant not provided [RCV003047417] Chr17:2672715 [GRCh38]
Chr17:2576009 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.699_700del (p.His233fs) microsatellite not provided [RCV003044158] Chr17:2674084..2674085 [GRCh38]
Chr17:2577378..2577379 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.450A>C (p.Thr150=) single nucleotide variant not provided [RCV003060435] Chr17:2670213 [GRCh38]
Chr17:2573507 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1159+16G>A single nucleotide variant not provided [RCV003069325] Chr17:2680336 [GRCh38]
Chr17:2583630 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1052A>G (p.Lys351Arg) single nucleotide variant not provided [RCV002609811] Chr17:2680213 [GRCh38]
Chr17:2583507 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.294G>A (p.Pro98=) single nucleotide variant not provided [RCV003068618] Chr17:2667093 [GRCh38]
Chr17:2570387 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.400-16T>G single nucleotide variant not provided [RCV002585096] Chr17:2670147 [GRCh38]
Chr17:2573441 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.126A>G (p.Glu42=) single nucleotide variant not provided [RCV002633939] Chr17:2666024 [GRCh38]
Chr17:2569318 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.650A>T (p.Lys217Ile) single nucleotide variant Inborn genetic diseases [RCV002722783] Chr17:2672736 [GRCh38]
Chr17:2576030 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_422368)_(2585096_?)dup duplication not provided [RCV003154911] Chr17:422368..2585096 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs) duplication Lissencephaly due to LIS1 mutation [RCV003228782] Chr17:2666041..2666042 [GRCh38]
Chr17:2569335..2569336 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1151C>G (p.Thr384Ser) single nucleotide variant not provided [RCV003222896] Chr17:2680312 [GRCh38]
Chr17:2583606 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.362G>A (p.Ser121Asn) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV003134738] Chr17:2667161 [GRCh38]
Chr17:2570455 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.117+3A>G single nucleotide variant Lissencephaly due to LIS1 mutation [RCV003134739] Chr17:2665459 [GRCh38]
Chr17:2568753 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter) single nucleotide variant not provided [RCV003691063] Chr17:2666076 [GRCh38]
Chr17:2569370 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.394A>G (p.Ile132Val) single nucleotide variant not provided [RCV003543584] Chr17:2667193 [GRCh38]
Chr17:2570487 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.569G>C (p.Gly190Ala) single nucleotide variant not provided [RCV003543365] Chr17:2672655 [GRCh38]
Chr17:2575949 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1 copy number loss not provided [RCV003483307] Chr17:526..3441645 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.620T>C (p.Ile207Thr) single nucleotide variant not provided [RCV003480228] Chr17:2672706 [GRCh38]
Chr17:2576000 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:526-2687966)x3 copy number gain not provided [RCV003485133] Chr17:526..2687966 [GRCh37]
Chr17:17p13.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1 copy number loss not provided [RCV003483311] Chr17:2433587..3484368 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.-191+19837G>T single nucleotide variant not provided [RCV003428051] Chr17:2613843 [GRCh38]
Chr17:2517137 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.*3634C>T single nucleotide variant not provided [RCV003428053] Chr17:2685436 [GRCh38]
Chr17:2588730 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.33-2550C>T single nucleotide variant not provided [RCV004810073] Chr17:2662822 [GRCh38]
Chr17:2566116 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.193-1G>A single nucleotide variant PAFAH1B1-related disorder [RCV003391666] Chr17:2666991 [GRCh38]
Chr17:2570285 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.-191+19575G>A single nucleotide variant not provided [RCV003419566] Chr17:2613581 [GRCh38]
Chr17:2516875 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.-191+19285C>G single nucleotide variant not provided [RCV003428048] Chr17:2613291 [GRCh38]
Chr17:2516585 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-191+19512G>T single nucleotide variant not provided [RCV003428049] Chr17:2613518 [GRCh38]
Chr17:2516812 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.33-2577G>C single nucleotide variant not provided [RCV003428052] Chr17:2662795 [GRCh38]
Chr17:2566089 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.-191+19673_-191+19676dup duplication not provided [RCV003428050] Chr17:2613678..2613679 [GRCh38]
Chr17:2516972..2516973 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.707G>A (p.Trp236Ter) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV003388667] Chr17:2674095 [GRCh38]
Chr17:2577389 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.1063A>G (p.Ser355Gly) single nucleotide variant not provided [RCV003576685] Chr17:2680224 [GRCh38]
Chr17:2583518 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1003-14T>C single nucleotide variant not provided [RCV003573898] Chr17:2680150 [GRCh38]
Chr17:2583444 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1033C>T (p.Leu345=) single nucleotide variant not provided [RCV003688704] Chr17:2680194 [GRCh38]
Chr17:2583488 [GRCh37]
Chr17:17p13.3		 likely benign
GRCh38/hg38 17p13.3(chr17:2500691-2687314) copy number gain Autism spectrum disorder [RCV003883409] Chr17:2500691..2687314 [GRCh38]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.842del (p.Cys281fs) deletion not provided [RCV003694814] Chr17:2674230 [GRCh38]
Chr17:2577524 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1052A>C (p.Lys351Thr) single nucleotide variant not provided [RCV003575693] Chr17:2680213 [GRCh38]
Chr17:2583507 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.914G>A (p.Gly305Asp) single nucleotide variant not provided [RCV003692080] Chr17:2676518 [GRCh38]
Chr17:2579812 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.672-4A>G single nucleotide variant not provided [RCV003689920] Chr17:2674056 [GRCh38]
Chr17:2577350 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.561C>T (p.Thr187=) single nucleotide variant not provided [RCV003573482] Chr17:2670324 [GRCh38]
Chr17:2573618 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.399+14A>C single nucleotide variant not provided [RCV003662881] Chr17:2667212 [GRCh38]
Chr17:2570506 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.672-14_672-12del microsatellite not provided [RCV003738755] Chr17:2674041..2674043 [GRCh38]
Chr17:2577335..2577337 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.1065T>C (p.Ser355=) single nucleotide variant not provided [RCV003878114] Chr17:2680226 [GRCh38]
Chr17:2583520 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.395T>C (p.Ile132Thr) single nucleotide variant not provided [RCV003575680] Chr17:2667194 [GRCh38]
Chr17:2570488 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.304T>G (p.Tyr102Asp) single nucleotide variant not provided [RCV003688413] Chr17:2667103 [GRCh38]
Chr17:2570397 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.245G>T (p.Gly82Val) single nucleotide variant not provided [RCV003574058] Chr17:2667044 [GRCh38]
Chr17:2570338 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.400-15C>A single nucleotide variant not provided [RCV003876856] Chr17:2670148 [GRCh38]
Chr17:2573442 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.562A>G (p.Met188Val) single nucleotide variant not provided [RCV003692185] Chr17:2670325 [GRCh38]
Chr17:2573619 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.351T>C (p.His117=) single nucleotide variant not provided [RCV003689596] Chr17:2667150 [GRCh38]
Chr17:2570444 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.124G>A (p.Glu42Lys) single nucleotide variant not provided [RCV003692194] Chr17:2666022 [GRCh38]
Chr17:2569316 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1160-19C>T single nucleotide variant not provided [RCV003879030] Chr17:2681710 [GRCh38]
Chr17:2585004 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.773T>A (p.Val258Glu) single nucleotide variant not provided [RCV004798201] Chr17:2674161 [GRCh38]
Chr17:2577455 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.671+9G>C single nucleotide variant not provided [RCV003663623] Chr17:2672766 [GRCh38]
Chr17:2576060 [GRCh37]
Chr17:17p13.3		 benign
NM_000430.4(PAFAH1B1):c.195T>A (p.Val65=) single nucleotide variant not provided [RCV003670401] Chr17:2666994 [GRCh38]
Chr17:2570288 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.715A>T (p.Met239Leu) single nucleotide variant not provided [RCV003549722] Chr17:2674103 [GRCh38]
Chr17:2577397 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.671+16T>C single nucleotide variant not provided [RCV003673875] Chr17:2672773 [GRCh38]
Chr17:2576067 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.568+6G>A single nucleotide variant not provided [RCV003698657] Chr17:2670337 [GRCh38]
Chr17:2573631 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1128C>G (p.Leu376=) single nucleotide variant not provided [RCV003548392] Chr17:2680289 [GRCh38]
Chr17:2583583 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.493C>T (p.Leu165=) single nucleotide variant not provided [RCV003559732] Chr17:2670256 [GRCh38]
Chr17:2573550 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.581A>G (p.Asn194Ser) single nucleotide variant not provided [RCV003549834] Chr17:2672667 [GRCh38]
Chr17:2575961 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.598A>G (p.Ile200Val) single nucleotide variant not provided [RCV003697933] Chr17:2672684 [GRCh38]
Chr17:2575978 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1089C>A (p.Arg363=) single nucleotide variant not provided [RCV003837770] Chr17:2680250 [GRCh38]
Chr17:2583544 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.786C>T (p.Val262=) single nucleotide variant not provided [RCV003566918] Chr17:2674174 [GRCh38]
Chr17:2577468 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.569-20A>G single nucleotide variant not provided [RCV003865898] Chr17:2672635 [GRCh38]
Chr17:2575929 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.306T>G (p.Tyr102Ter) single nucleotide variant not provided [RCV003706076] Chr17:2667105 [GRCh38]
Chr17:2570399 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.603G>T (p.Met201Ile) single nucleotide variant not provided [RCV003552563] Chr17:2672689 [GRCh38]
Chr17:2575983 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1028G>A (p.Gly343Glu) single nucleotide variant not provided [RCV003711575] Chr17:2680189 [GRCh38]
Chr17:2583483 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.568+18G>A single nucleotide variant not provided [RCV003705457] Chr17:2670349 [GRCh38]
Chr17:2573643 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.569-13_569-12insACACATAATA insertion not provided [RCV003551860] Chr17:2672642..2672643 [GRCh38]
Chr17:2575936..2575937 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.900+5T>C single nucleotide variant not provided [RCV003568370] Chr17:2674293 [GRCh38]
Chr17:2577587 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.389C>G (p.Ala130Gly) single nucleotide variant not provided [RCV003552162] Chr17:2667188 [GRCh38]
Chr17:2570482 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1226G>A (p.Cys409Tyr) single nucleotide variant not provided [RCV003681160] Chr17:2681795 [GRCh38]
Chr17:2585089 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.995T>C (p.Met332Thr) single nucleotide variant not provided [RCV003871772] Chr17:2676599 [GRCh38]
Chr17:2579893 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.111A>C (p.Leu37Phe) single nucleotide variant not provided [RCV003854194] Chr17:2665450 [GRCh38]
Chr17:2568744 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1173G>A (p.Thr391=) single nucleotide variant not provided [RCV003720455] Chr17:2681742 [GRCh38]
Chr17:2585036 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.193-13G>A single nucleotide variant not provided [RCV003870288] Chr17:2666979 [GRCh38]
Chr17:2570273 [GRCh37]
Chr17:17p13.3		 likely benign
GRCh37/hg19 17p13.3(chr17:2264478-2570762)x3 copy number gain not specified [RCV003987241] Chr17:2264478..2570762 [GRCh37]
Chr17:17p13.3		 likely pathogenic
GRCh37/hg19 17p13.3(chr17:2475401-2725586)x3 copy number gain not specified [RCV003987263] Chr17:2475401..2725586 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.355G>A (p.Val119Met) single nucleotide variant not provided [RCV003681815] Chr17:2667154 [GRCh38]
Chr17:2570448 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_000430.4(PAFAH1B1):c.569-14G>T single nucleotide variant not provided [RCV003551872] Chr17:2672641 [GRCh38]
Chr17:2575935 [GRCh37]
Chr17:17p13.3		 likely benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_000430.4(PAFAH1B1):c.277G>T (p.Glu93Ter) single nucleotide variant not provided [RCV003563828] Chr17:2667076 [GRCh38]
Chr17:2570370 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.1090G>A (p.Val364Ile) single nucleotide variant not provided [RCV003722223] Chr17:2680251 [GRCh38]
Chr17:2583545 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:2416420-3023516)x3 copy number gain not specified [RCV003987255] Chr17:2416420..3023516 [GRCh37]
Chr17:17p13.3		 uncertain significance
GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1 copy number loss not specified [RCV003987256] Chr17:1505119..3010963 [GRCh37]
Chr17:17p13.3		 pathogenic
NM_000430.4(PAFAH1B1):c.594A>G (p.Val198=) single nucleotide variant not provided [RCV003563083] Chr17:2672680 [GRCh38]
Chr17:2575974 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.192+7A>G single nucleotide variant not provided [RCV003565991] Chr17:2666097 [GRCh38]
Chr17:2569391 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.135A>G (p.Lys45=) single nucleotide variant not provided [RCV003712269] Chr17:2666033 [GRCh38]
Chr17:2569327 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.32+9_32+12del deletion not provided [RCV003732527] Chr17:2638326..2638329 [GRCh38]
Chr17:2541620..2541623 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.419G>C (p.Gly140Ala) single nucleotide variant not provided [RCV003553459] Chr17:2670182 [GRCh38]
Chr17:2573476 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.553A>C (p.Ile185Leu) single nucleotide variant not provided [RCV003733538] Chr17:2670316 [GRCh38]
Chr17:2573610 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.32+8T>G single nucleotide variant PAFAH1B1-related disorder [RCV003954410] Chr17:2638328 [GRCh38]
Chr17:2541622 [GRCh37]
Chr17:17p13.3		 likely benign
NM_000430.4(PAFAH1B1):c.257_258insGTC (p.Gly86_Gln87insSer) insertion PAFAH1B1-related disorder [RCV003927327] Chr17:2667056..2667057 [GRCh38]
Chr17:2570350..2570351 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.559dup (p.Thr187fs) duplication PAFAH1B1-related disorder [RCV003982693] Chr17:2670320..2670321 [GRCh38]
Chr17:2573614..2573615 [GRCh37]
Chr17:17p13.3		 likely pathogenic
NM_000430.4(PAFAH1B1):c.329dup (p.Val111fs) duplication Lissencephaly due to LIS1 mutation [RCV003988626] Chr17:2667126..2667127 [GRCh38]
Chr17:2570420..2570421 [GRCh37]
Chr17:17p13.3		 not provided
NM_000430.4(PAFAH1B1):c.994A>G (p.Met332Val) single nucleotide variant Inborn genetic diseases [RCV004497840] Chr17:2676598 [GRCh38]
Chr17:2579892 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.353C>T (p.Pro118Leu) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV004545963] Chr17:2667152 [GRCh38]
Chr17:2570446 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2541583)_(2541634_?)del deletion not provided [RCV004581355] Chr17:2541583..2541634 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_1648982)_(2583634_?)del deletion not provided [RCV004581356] Chr17:1648982..2583634 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2583438)_(2585096_?)del deletion not provided [RCV004581357] Chr17:2583438..2585096 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2577334)_(2579920_?)del deletion not provided [RCV004581360] Chr17:2577334..2579920 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_2541583)_(2573645_?)dup duplication not provided [RCV004581361] Chr17:2541583..2573645 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2573437)_(2579920_?)dup duplication not provided [RCV004581362] Chr17:2573437..2579920 [GRCh37]
Chr17:17p13.3		 uncertain significance
NC_000017.10:g.(?_2541583)_(2576071_?)del deletion not provided [RCV004581359] Chr17:2541583..2576071 [GRCh37]
Chr17:17p13.3		 pathogenic
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
NM_000430.4(PAFAH1B1):c.399G>C (p.Lys133Asn) single nucleotide variant PAFAH1B1-related disorder [RCV004730492] Chr17:2667198 [GRCh38]
Chr17:2570492 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.331G>C (p.Val111Leu) single nucleotide variant not provided [RCV004764228]   uncertain significance
NM_000430.4(PAFAH1B1):c.205G>C (p.Glu69Gln) single nucleotide variant Lissencephaly due to LIS1 mutation [RCV004703375] Chr17:2667004 [GRCh38]
Chr17:2570298 [GRCh37]
Chr17:17p13.3		 uncertain significance
NM_000430.4(PAFAH1B1):c.1045G>A (p.Gly349Arg) single nucleotide variant not provided [RCV004721928] Chr17:2680206 [GRCh38]
Chr17:2583500 [GRCh37]
Chr17:17p13.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3193
Count of miRNA genes:1073
Interacting mature miRNAs:1386
Transcripts:ENST00000397193, ENST00000397195, ENST00000451360, ENST00000570400, ENST00000571289, ENST00000571495, ENST00000572915, ENST00000574213, ENST00000574468, ENST00000574816, ENST00000575477, ENST00000576586, ENST00000609078, ENST00000610190
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597192984GWAS1289058_Hcortical thickness QTL GWAS1289058 (human)5e-12cortical thickness1726522982652299Human
597420699GWAS1516773_Hneuroticism measurement QTL GWAS1516773 (human)6e-12neuroticism measurement1726715272671528Human
597062679GWAS1158753_Hneuroticism measurement QTL GWAS1158753 (human)7e-11neuroticism measurement1726148042614805Human
596967189GWAS1086708_Hcortical thickness QTL GWAS1086708 (human)3e-08cortical thickness1726585302658531Human
597266075GWAS1362149_Hcortical thickness QTL GWAS1362149 (human)2e-13cortical thickness1726522982652299Human
597274907GWAS1370981_Hschizophrenia QTL GWAS1370981 (human)0.000005schizophrenia1726683742668375Human
596967574GWAS1087093_Hcortical thickness QTL GWAS1087093 (human)1e-11cortical thickness1726522982652299Human
597267226GWAS1363300_Hcortical thickness QTL GWAS1363300 (human)7e-09cortical thickness1726522982652299Human
596968209GWAS1087728_Hcortical thickness QTL GWAS1087728 (human)1e-12cortical thickness1726522982652299Human
597062675GWAS1158749_Hneuroticism measurement QTL GWAS1158749 (human)1e-11neuroticism measurement1726609732660974Human
596967196GWAS1086715_Hcortical thickness QTL GWAS1086715 (human)5e-09cortical thickness1726715272671528Human
597086879GWAS1182953_Hmean platelet volume QTL GWAS1182953 (human)3e-10mean platelet volumemean platelet volume (CMO:0001348)1726498582649859Human
597264916GWAS1360990_Hcortical thickness QTL GWAS1360990 (human)1e-11cortical thickness1726522982652299Human
597233431GWAS1329505_Hmajor depressive disorder QTL GWAS1329505 (human)0.0000001major depressive disorder1726522982652299Human
597493779GWAS1589853_Hneuroticism measurement, cognitive function measurement QTL GWAS1589853 (human)4e-15neuroticism measurement, cognitive function measurement1726715272671528Human
597062553GWAS1158627_Hdepressive symptom measurement QTL GWAS1158627 (human)6e-11depressive symptom measurement1726609732660974Human
597380116GWAS1476190_Hneurotic disorder QTL GWAS1476190 (human)2e-09neurotic disorder1726715272671528Human
597192200GWAS1288274_Hcortical thickness QTL GWAS1288274 (human)6e-12cortical thickness1726522982652299Human
597208585GWAS1304659_Hcortical thickness QTL GWAS1304659 (human)2e-09cortical thickness1726522982652299Human
597192201GWAS1288275_Hcortical thickness QTL GWAS1288275 (human)1e-09cortical thickness1726522982652299Human
597264268GWAS1360342_Hcortical thickness QTL GWAS1360342 (human)6e-09cortical thickness1726609732660974Human
596967938GWAS1087457_Hcortical thickness QTL GWAS1087457 (human)2e-10cortical thickness1726522982652299Human
596964239GWAS1083758_Hmood disorder, major depressive disorder QTL GWAS1083758 (human)2e-08mood disorder, major depressive disorder1726715272671528Human
597193477GWAS1289551_Hcortical surface area measurement QTL GWAS1289551 (human)4e-08cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)1726522982652299Human
597398277GWAS1494351_Hcortical thickness QTL GWAS1494351 (human)4e-11cortical thickness1726715272671528Human
597267206GWAS1363280_Hcortical thickness QTL GWAS1363280 (human)2e-10cortical thickness1726522982652299Human
597265592GWAS1361666_Hcortical thickness QTL GWAS1361666 (human)4e-12cortical thickness1726522982652299Human
597410232GWAS1506306_Hneuroticism measurement QTL GWAS1506306 (human)1e-11neuroticism measurement1726715272671528Human
596968625GWAS1088144_Hcortical thickness QTL GWAS1088144 (human)2e-13cortical thickness1726522982652299Human
596967344GWAS1086863_Hcortical thickness QTL GWAS1086863 (human)4e-11cortical thickness1726715272671528Human
596968368GWAS1087887_Hcortical thickness QTL GWAS1087887 (human)7e-09cortical thickness1726522982652299Human
597413565GWAS1509639_Hmood disorder, major depressive disorder QTL GWAS1509639 (human)2e-08mood disorder, major depressive disorder1726715272671528Human
597203263GWAS1299337_Hwellbeing measurement QTL GWAS1299337 (human)7e-09wellness/fitness trait (VT:1000152)1726547852654786Human
597192752GWAS1288826_Hcortical thickness QTL GWAS1288826 (human)2e-08cortical thicknessbrain measurement (CMO:0000911)1726522982652299Human
596968376GWAS1087895_Hcortical thickness QTL GWAS1087895 (human)1e-10cortical thickness1726522982652299Human
597414965GWAS1511039_Hneuroticism measurement QTL GWAS1511039 (human)8e-11neuroticism measurement1726715272671528Human
597354282GWAS1450356_Hbody height QTL GWAS1450356 (human)2e-13body height (VT:0001253)body height (CMO:0000106)1725990922599093Human
597194154GWAS1290228_Hcortical thickness QTL GWAS1290228 (human)4e-10cortical thickness1726522982652299Human
597612587GWAS1669447_Hdrug allergy QTL GWAS1669447 (human)4e-11drug allergy1726212402621241Human
597264047GWAS1360121_Hcortical thickness QTL GWAS1360121 (human)4e-09cortical thickness1726522982652299Human
597372204GWAS1468278_Hchronotype measurement QTL GWAS1468278 (human)9e-09chronotype measurement1726752562675257Human
597350051GWAS1446125_Hmyocardial infarction QTL GWAS1446125 (human)0.0000009myocardial infarction1726218812621882Human
597473500GWAS1569574_Hanxiety measurement QTL GWAS1569574 (human)2e-11anxiety measurement1726715272671528Human
597194841GWAS1290915_Hcortical thickness QTL GWAS1290915 (human)3e-09cortical thickness1726522982652299Human
597193946GWAS1290020_Hcortical thickness QTL GWAS1290020 (human)2e-11cortical thickness1726522982652299Human
597421023GWAS1517097_Hneuroticism measurement QTL GWAS1517097 (human)7e-12neuroticism measurement1726715272671528Human
597030736GWAS1126810_Hadverse effect, response to xenobiotic stimulus QTL GWAS1126810 (human)0.0000007adverse effect, response to xenobiotic stimulus1726389602638961Human
597422300GWAS1518374_Hneuroticism measurement QTL GWAS1518374 (human)2e-12neuroticism measurement1726715272671528Human
596967773GWAS1087292_Hcortical thickness QTL GWAS1087292 (human)4e-12cortical thickness1726522982652299Human
597266512GWAS1362586_Hcortical thickness QTL GWAS1362586 (human)7e-12cortical thickness1726609732660974Human
597212881GWAS1308955_Hself reported educational attainment QTL GWAS1308955 (human)2e-08self reported educational attainment1726609732660974Human
597534167GWAS1630241_Hbody height QTL GWAS1630241 (human)1e-37body height (VT:0001253)body height (CMO:0000106)1726715272671528Human
597470029GWAS1566103_Hneuroticism measurement QTL GWAS1566103 (human)6e-11neuroticism measurement1726715272671528Human
596974918GWAS1094437_Hmajor depressive disorder QTL GWAS1094437 (human)0.0000001major depressive disorder1726522982652299Human
597410120GWAS1506194_Hneuroticism measurement QTL GWAS1506194 (human)1e-08body height (VT:0001253)body height (CMO:0000106)1726715272671528Human
597083074GWAS1179148_Hmean platelet volume QTL GWAS1179148 (human)4e-10mean platelet volumemean platelet volume (CMO:0001348)1726342572634258Human
597396943GWAS1493017_Hcortical thickness QTL GWAS1493017 (human)8e-10cortical thickness1726715272671528Human
597062595GWAS1158669_Hdepressive symptom measurement QTL GWAS1158669 (human)8e-10depressive symptom measurement1726148042614805Human
597062723GWAS1158797_Hwellbeing measurement QTL GWAS1158797 (human)4e-11wellness/fitness trait (VT:1000152)1726148042614805Human
407002519GWAS651495_Htiredness measurement QTL GWAS651495 (human)7e-08wellness/fitness trait (VT:1000152)1726522982652299Human
596967361GWAS1086880_Hcortical thickness QTL GWAS1086880 (human)7e-12cortical thickness1726609732660974Human
597359183GWAS1455257_Hneuroticism measurement QTL GWAS1455257 (human)9e-09neuroticism measurement1726715272671528Human
596967747GWAS1087266_Hcortical thickness QTL GWAS1087266 (human)6e-09cortical thickness1726609732660974Human
597463242GWAS1559316_Hneuroticism measurement QTL GWAS1559316 (human)8e-12neuroticism measurement1726715272671528Human
597522762GWAS1618836_Hcortical thickness QTL GWAS1618836 (human)0.000002cortical thickness1726421792642180Human
597081039GWAS1177113_Hmean platelet volume QTL GWAS1177113 (human)1e-11mean platelet volumemean platelet volume (CMO:0001348)1726522762652277Human
597194692GWAS1290766_Hcortical thickness QTL GWAS1290766 (human)2e-12cortical thickness1726522982652299Human
597479617GWAS1575691_Hage-related hearing impairment QTL GWAS1575691 (human)8e-09age-related hearing impairment1726715272671528Human
596968395GWAS1087914_Hcortical thickness QTL GWAS1087914 (human)4e-09cortical thickness1726522982652299Human
597266758GWAS1362832_Hcortical thickness QTL GWAS1362832 (human)3e-08cortical thickness1726585302658531Human
597266296GWAS1362370_Hcortical thickness QTL GWAS1362370 (human)1e-12cortical thickness1726522982652299Human
407264036GWAS913012_Hunipolar depression QTL GWAS913012 (human)0.0000001unipolar depression1726522982652299Human
597193724GWAS1289798_Hcortical thickness QTL GWAS1289798 (human)3e-10cortical thickness1726522982652299Human
597062642GWAS1158716_Hwellbeing measurement QTL GWAS1158716 (human)4e-11wellness/fitness trait (VT:1000152)1726609732660974Human
407150368GWAS799344_Hunipolar depression, mood disorder QTL GWAS799344 (human)2e-08unipolar depression, mood disorder1726715272671528Human
597018224GWAS1114298_Hreaction time measurement QTL GWAS1114298 (human)0.000001reaction time measurement1726715272671528Human
597265151GWAS1361225_Hcortical thickness QTL GWAS1361225 (human)2e-14cortical thickness1726522982652299Human
597267440GWAS1363514_Hcortical thickness QTL GWAS1363514 (human)1e-10cortical thickness1726522982652299Human
596967545GWAS1087064_Hcortical thickness QTL GWAS1087064 (human)2e-10cortical thickness1726715272671528Human
597396587GWAS1492661_Hcortical thickness QTL GWAS1492661 (human)2e-10cortical thickness1726715272671528Human
596967783GWAS1087302_Hcortical thickness QTL GWAS1087302 (human)8e-10cortical thickness1726715272671528Human
597053539GWAS1149613_Hneuroticism measurement QTL GWAS1149613 (human)5e-09neuroticism measurement1726806822680683Human
597108833GWAS1204907_Hself reported educational attainment QTL GWAS1204907 (human)3e-08self reported educational attainment1726609732660974Human
597396589GWAS1492663_Hcortical thickness QTL GWAS1492663 (human)5e-09cortical thickness1726715272671528Human
597421026GWAS1517100_Hneuroticism measurement QTL GWAS1517100 (human)5e-11cortical thickness1726715272671528Human
597277794GWAS1373868_Hinsomnia QTL GWAS1373868 (human)5e-10insomnia1726280812628082Human
596967151GWAS1086670_Hcortical thickness QTL GWAS1086670 (human)2e-14cortical thickness1726522982652299Human

Markers in Region
D17S1798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,558,384 - 2,558,633UniSTSGRCh37
Build 36172,505,134 - 2,505,383RGDNCBI36
Celera172,575,053 - 2,575,302RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,450,452 - 2,450,699UniSTS
Marshfield Genetic Map176.6UniSTS
Marshfield Genetic Map176.6RGD
Genethon Genetic Map176.7UniSTS
Stanford-G3 RH Map17158.0UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map1750.4UniSTS
GeneMap99-G3 RH Map17158.0UniSTS
STS-T60849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,248,088 - 1,248,209UniSTSGRCh37
Build 36171,194,838 - 1,194,959RGDNCBI36
Celera171,261,616 - 1,261,737RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,148,780 - 1,148,901UniSTS
GeneMap99-GB4 RH Map1722.37UniSTS
NCBI RH Map1740.3UniSTS
D17S850E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,588,513 - 2,588,710UniSTSGRCh37
Build 36172,535,263 - 2,535,460RGDNCBI36
Celera172,605,188 - 2,605,385RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,480,868 - 2,481,065UniSTS
TNG Radiation Hybrid Map171236.0UniSTS
Stanford-G3 RH Map17177.0UniSTS
NCBI RH Map1751.2UniSTS
GeneMap99-G3 RH Map17177.0UniSTS
D17S2027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,552,293 - 2,552,396UniSTSGRCh37
Build 36172,499,043 - 2,499,146RGDNCBI36
Celera172,568,974 - 2,569,077RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,444,366 - 2,444,469UniSTS
Whitehead-YAC Contig Map17 UniSTS
RH92999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,569,565 - 2,569,694UniSTSGRCh37
Build 36172,516,315 - 2,516,444RGDNCBI36
Celera172,586,238 - 2,586,367RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,462,069 - 2,462,198UniSTS
GeneMap99-GB4 RH Map1734.69UniSTS
RH48326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37287,866,496 - 87,866,644UniSTSGRCh37
GRCh372112,141,267 - 112,141,415UniSTSGRCh37
Build 362111,857,738 - 111,857,886RGDNCBI36
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q13UniSTS
HuRef2104,900,433 - 104,900,581UniSTS
D17S1267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,586,033 - 2,586,156UniSTSGRCh37
Build 36172,532,783 - 2,532,906RGDNCBI36
Celera172,602,708 - 2,602,831RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,478,388 - 2,478,511UniSTS
D17S1582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,248,109 - 1,248,201UniSTSGRCh37
Build 36171,194,859 - 1,194,951RGDNCBI36
Celera171,261,637 - 1,261,729RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,148,801 - 1,148,893UniSTS
SHGC-150914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,558,427 - 2,558,634UniSTSGRCh37
Build 36172,505,177 - 2,505,384RGDNCBI36
Celera172,575,096 - 2,575,303RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,450,495 - 2,450,700UniSTS
TNG Radiation Hybrid Map171213.0UniSTS
TNG Radiation Hybrid Map1104655.0UniSTS
SHGC-130305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37287,866,502 - 87,866,639UniSTSGRCh37
GRCh372112,141,272 - 112,141,409UniSTSGRCh37
Build 362111,857,743 - 111,857,880RGDNCBI36
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map17p13.3UniSTS
HuRef2104,900,438 - 104,900,575UniSTS
TNG Radiation Hybrid Map256280.0UniSTS
WI-15114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,585,942 - 2,586,091UniSTSGRCh37
Build 36172,532,692 - 2,532,841RGDNCBI36
Celera172,602,617 - 2,602,766RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,478,297 - 2,478,446UniSTS
GeneMap99-GB4 RH Map1734.92UniSTS
Whitehead-RH Map1739.1UniSTS
NCBI RH Map1778.1UniSTS
RH16161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,505,349 - 2,505,480UniSTSGRCh37
Build 36172,452,099 - 2,452,230RGDNCBI36
Celera172,522,039 - 2,522,170RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,397,429 - 2,397,560UniSTS
GeneMap99-GB4 RH Map1734.41UniSTS
NCBI RH Map1778.4UniSTS
STS-H04399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,505,295 - 2,505,422UniSTSGRCh37
Build 36172,452,045 - 2,452,172RGDNCBI36
Celera172,521,985 - 2,522,112RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,397,375 - 2,397,502UniSTS
GeneMap99-GB4 RH Map1734.2UniSTS
NCBI RH Map1778.1UniSTS
RH12602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,588,009 - 2,588,177UniSTSGRCh37
Build 36172,534,759 - 2,534,927RGDNCBI36
Celera172,604,684 - 2,604,852RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,480,364 - 2,480,532UniSTS
GeneMap99-GB4 RH Map1742.85UniSTS
NCBI RH Map1754.6UniSTS
G33155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,588,555 - 2,588,661UniSTSGRCh37
Build 36172,535,305 - 2,535,411RGDNCBI36
Celera172,605,230 - 2,605,336RGD
Cytogenetic Map17p13.3UniSTS
HuRef172,480,910 - 2,481,016UniSTS
WI-11159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37172,501,796 - 2,502,000UniSTSGRCh37
Build 36172,448,546 - 2,448,750RGDNCBI36
Celera172,518,485 - 2,518,689RGD
Cytogenetic Map17p13.3UniSTS
Whitehead-RH Map1739.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2251 4973 1726 2351 5 624 1951 465 2269 7300 6468 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000397193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,667,294 - 2,682,038 (+)Ensembl
Ensembl Acc Id: ENST00000397195   ⟹   ENSP00000380378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,654 - 2,685,615 (+)Ensembl
Ensembl Acc Id: ENST00000570400   ⟹   ENSP00000460258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,637 - 2,681,910 (+)Ensembl
Ensembl Acc Id: ENST00000571289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,968 - 2,638,648 (+)Ensembl
Ensembl Acc Id: ENST00000571495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,672,304 - 2,685,606 (+)Ensembl
Ensembl Acc Id: ENST00000572915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,957 - 2,684,500 (+)Ensembl
Ensembl Acc Id: ENST00000574213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,680,844 - 2,681,857 (+)Ensembl
Ensembl Acc Id: ENST00000574468   ⟹   ENSP00000460591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,684 - 2,685,615 (+)Ensembl
Ensembl Acc Id: ENST00000574816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,609,539 - 2,681,910 (+)Ensembl
Ensembl Acc Id: ENST00000575477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,815 - 2,666,090 (+)Ensembl
Ensembl Acc Id: ENST00000576586   ⟹   ENSP00000461087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,183 - 2,685,615 (+)Ensembl
Ensembl Acc Id: ENST00000609078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,665,381 - 2,670,374 (+)Ensembl
Ensembl Acc Id: ENST00000610190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,679,610 - 2,685,606 (+)Ensembl
Ensembl Acc Id: ENST00000674608   ⟹   ENSP00000501976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,953 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000674717   ⟹   ENSP00000501931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,947 - 2,685,606 (+)Ensembl
Ensembl Acc Id: ENST00000675084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,676,351 - 2,680,669 (+)Ensembl
Ensembl Acc Id: ENST00000675202   ⟹   ENSP00000502843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,950 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000675331   ⟹   ENSP00000502031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,594,171 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000675385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,674,715 - 2,684,499 (+)Ensembl
Ensembl Acc Id: ENST00000675390   ⟹   ENSP00000501969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,636,584 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000675430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,970 - 2,671,552 (+)Ensembl
Ensembl Acc Id: ENST00000675574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,672,317 - 2,685,606 (+)Ensembl
Ensembl Acc Id: ENST00000675621   ⟹   ENSP00000502117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,942 - 2,681,910 (+)Ensembl
Ensembl Acc Id: ENST00000675764   ⟹   ENSP00000502242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,950 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000676077   ⟹   ENSP00000502507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,953 - 2,685,606 (+)Ensembl
Ensembl Acc Id: ENST00000676098   ⟹   ENSP00000502735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,957 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000676188   ⟹   ENSP00000502577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,594,327 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000676201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,654 - 2,671,558 (+)Ensembl
Ensembl Acc Id: ENST00000676353   ⟹   ENSP00000502737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,947 - 2,685,608 (+)Ensembl
Ensembl Acc Id: ENST00000676456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,638,099 - 2,671,558 (+)Ensembl
Ensembl Acc Id: ENST00000713668   ⟹   ENSP00000518970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,955 - 2,685,584 (+)Ensembl
Ensembl Acc Id: ENST00000713688   ⟹   ENSP00000518992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,631 - 2,681,913 (+)Ensembl
Ensembl Acc Id: ENST00000713689   ⟹   ENSP00000518993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,637 - 2,681,910 (+)Ensembl
Ensembl Acc Id: ENST00000713690   ⟹   ENSP00000518994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,651 - 2,681,910 (+)Ensembl
Ensembl Acc Id: ENST00000713983   ⟹   ENSP00000519274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,612 - 2,681,913 (+)Ensembl
Ensembl Acc Id: ENST00000713984   ⟹   ENSP00000519275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,654 - 2,681,913 (+)Ensembl
Ensembl Acc Id: ENST00000713986   ⟹   ENSP00000519277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,957 - 2,681,913 (+)Ensembl
Ensembl Acc Id: ENST00000713987   ⟹   ENSP00000519278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl172,593,966 - 2,681,910 (+)Ensembl
RefSeq Acc Id: NM_000430   ⟹   NP_000421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,654 - 2,685,615 (+)NCBI
GRCh37172,496,923 - 2,588,909 (+)ENTREZGENE
Build 36172,443,686 - 2,535,638 (+)NCBI Archive
HuRef172,389,423 - 2,481,264 (+)ENTREZGENE
CHM1_1172,505,702 - 2,597,647 (+)NCBI
T2T-CHM13v2.0172,482,841 - 2,574,760 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523901   ⟹   XP_011522203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,654 - 2,685,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523902   ⟹   XP_011522204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,957 - 2,685,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523903   ⟹   XP_011522205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,635,388 - 2,685,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024701   ⟹   XP_016880190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,183 - 2,685,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024703   ⟹   XP_016880192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,613,112 - 2,617,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436162   ⟹   XP_047292118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,635,387 - 2,685,615 (+)NCBI
RefSeq Acc Id: XM_047436163   ⟹   XP_047292119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,613,657 - 2,685,615 (+)NCBI
RefSeq Acc Id: XM_047436164   ⟹   XP_047292120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,613,657 - 2,685,615 (+)NCBI
RefSeq Acc Id: XM_047446825   ⟹   XP_047302781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,502,301 - 2,506,894 (+)NCBI
RefSeq Acc Id: XM_054316298   ⟹   XP_054172273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,482,841 - 2,574,760 (+)NCBI
RefSeq Acc Id: XM_054316299   ⟹   XP_054172274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,524,588 - 2,574,760 (+)NCBI
RefSeq Acc Id: XM_054316300   ⟹   XP_054172275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,502,846 - 2,574,760 (+)NCBI
RefSeq Acc Id: XM_054316301   ⟹   XP_054172276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,524,587 - 2,574,760 (+)NCBI
RefSeq Acc Id: XM_054316302   ⟹   XP_054172277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,502,846 - 2,574,760 (+)NCBI
RefSeq Acc Id: XM_054316303   ⟹   XP_054172278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,482,370 - 2,574,760 (+)NCBI
RefSeq Acc Id: XM_054316304   ⟹   XP_054172279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0172,502,846 - 2,574,760 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000421 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522203 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522204 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522205 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880190 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880192 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292118 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292119 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292120 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302781 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172274 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172275 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172276 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172277 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172278 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172279 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA02880 (Get FASTA)   NCBI Sequence Viewer  
  AAA02881 (Get FASTA)   NCBI Sequence Viewer  
  AAA02882 (Get FASTA)   NCBI Sequence Viewer  
  AAH64638 (Get FASTA)   NCBI Sequence Viewer  
  AAK92483 (Get FASTA)   NCBI Sequence Viewer  
  AAL34972 (Get FASTA)   NCBI Sequence Viewer  
  AAL34973 (Get FASTA)   NCBI Sequence Viewer  
  BAG35904 (Get FASTA)   NCBI Sequence Viewer  
  BAG57299 (Get FASTA)   NCBI Sequence Viewer  
  BAG64145 (Get FASTA)   NCBI Sequence Viewer  
  CAD98141 (Get FASTA)   NCBI Sequence Viewer  
  EAW90536 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000380378
  ENSP00000380378.4
  ENSP00000460258.2
  ENSP00000460591.2
  ENSP00000461087
  ENSP00000461087.2
  ENSP00000501931.1
  ENSP00000501969.1
  ENSP00000501976
  ENSP00000501976.1
  ENSP00000502031
  ENSP00000502031.1
  ENSP00000502117.1
  ENSP00000502242.1
  ENSP00000502507.1
  ENSP00000502577.1
  ENSP00000502735.1
  ENSP00000502737
  ENSP00000502737.1
  ENSP00000502843
  ENSP00000502843.1
  ENSP00000518970.1
  ENSP00000518992.1
  ENSP00000518993.1
  ENSP00000518994.1
  ENSP00000519274.1
  ENSP00000519275.1
  ENSP00000519277.1
  ENSP00000519278.1
GenBank Protein P43034 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000421   ⟸   NM_000430
- UniProtKB: P43034 (UniProtKB/Swiss-Prot),   Q8WZ88 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522203   ⟸   XM_011523901
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PFU3 (UniProtKB/TrEMBL),   A0AAQ5BGM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522204   ⟸   XM_011523902
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PFU3 (UniProtKB/TrEMBL),   A0AAQ5BGM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522205   ⟸   XM_011523903
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PFU3 (UniProtKB/TrEMBL),   A0AAQ5BGM1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880190   ⟸   XM_017024701
- Peptide Label: isoform X2
- UniProtKB: P43034 (UniProtKB/Swiss-Prot),   Q8WZ88 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880192   ⟸   XM_017024703
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000460258   ⟸   ENST00000570400
Ensembl Acc Id: ENSP00000460591   ⟸   ENST00000574468
Ensembl Acc Id: ENSP00000461087   ⟸   ENST00000576586
Ensembl Acc Id: ENSP00000380378   ⟸   ENST00000397195
Ensembl Acc Id: ENSP00000501931   ⟸   ENST00000674717
Ensembl Acc Id: ENSP00000501976   ⟸   ENST00000674608
Ensembl Acc Id: ENSP00000502242   ⟸   ENST00000675764
Ensembl Acc Id: ENSP00000502117   ⟸   ENST00000675621
Ensembl Acc Id: ENSP00000502031   ⟸   ENST00000675331
Ensembl Acc Id: ENSP00000501969   ⟸   ENST00000675390
Ensembl Acc Id: ENSP00000502843   ⟸   ENST00000675202
Ensembl Acc Id: ENSP00000502577   ⟸   ENST00000676188
Ensembl Acc Id: ENSP00000502507   ⟸   ENST00000676077
Ensembl Acc Id: ENSP00000502735   ⟸   ENST00000676098
Ensembl Acc Id: ENSP00000502737   ⟸   ENST00000676353
RefSeq Acc Id: XP_047292119   ⟸   XM_047436163
- Peptide Label: isoform X2
- UniProtKB: Q8WZ88 (UniProtKB/Swiss-Prot),   P43034 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292120   ⟸   XM_047436164
- Peptide Label: isoform X3
- UniProtKB: A0A6Q8PFT2 (UniProtKB/TrEMBL),   I3L384 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292118   ⟸   XM_047436162
- Peptide Label: isoform X2
- UniProtKB: Q8WZ88 (UniProtKB/Swiss-Prot),   P43034 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302781   ⟸   XM_047446825
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172278   ⟸   XM_054316303
- Peptide Label: isoform X2
- UniProtKB: Q8WZ88 (UniProtKB/Swiss-Prot),   P43034 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172273   ⟸   XM_054316298
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PFU3 (UniProtKB/TrEMBL),   A0AAQ5BGM1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172275   ⟸   XM_054316300
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PFU3 (UniProtKB/TrEMBL),   A0AAQ5BGM1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172277   ⟸   XM_054316302
- Peptide Label: isoform X2
- UniProtKB: Q8WZ88 (UniProtKB/Swiss-Prot),   P43034 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172279   ⟸   XM_054316304
- Peptide Label: isoform X3
- UniProtKB: A0A6Q8PFT2 (UniProtKB/TrEMBL),   I3L384 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172276   ⟸   XM_054316301
- Peptide Label: isoform X2
- UniProtKB: Q8WZ88 (UniProtKB/Swiss-Prot),   P43034 (UniProtKB/Swiss-Prot),   B2R7Q7 (UniProtKB/Swiss-Prot),   Q8WZ89 (UniProtKB/Swiss-Prot),   A0A6Q8PG63 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172274   ⟸   XM_054316299
- Peptide Label: isoform X1
- UniProtKB: A0A6Q8PFU3 (UniProtKB/TrEMBL),   A0AAQ5BGM1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000519278   ⟸   ENST00000713987
Ensembl Acc Id: ENSP00000519274   ⟸   ENST00000713983
Ensembl Acc Id: ENSP00000518992   ⟸   ENST00000713688
Ensembl Acc Id: ENSP00000519277   ⟸   ENST00000713986
Ensembl Acc Id: ENSP00000518994   ⟸   ENST00000713690
Ensembl Acc Id: ENSP00000519275   ⟸   ENST00000713984
Ensembl Acc Id: ENSP00000518993   ⟸   ENST00000713689
Ensembl Acc Id: ENSP00000518970   ⟸   ENST00000713668
Protein Domains
LisH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43034-F1-model_v2 AlphaFold P43034 1-410 view protein structure

Promoters
RGD ID:6794327
Promoter ID:HG_KWN:24673
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_000430,   UC010CKB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36172,443,431 - 2,444,167 (+)MPROMDB
RGD ID:7233327
Promoter ID:EPDNEW_H22409
Type:initiation region
Name:PAFAH1B1_4
Description:platelet activating factor acetylhydrolase 1b regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22410  EPDNEW_H22412  EPDNEW_H22411  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,196 - 2,593,256EPDNEW
RGD ID:7233329
Promoter ID:EPDNEW_H22410
Type:initiation region
Name:PAFAH1B1_1
Description:platelet activating factor acetylhydrolase 1b regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22409  EPDNEW_H22412  EPDNEW_H22411  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,654 - 2,593,714EPDNEW
RGD ID:7233333
Promoter ID:EPDNEW_H22411
Type:initiation region
Name:PAFAH1B1_2
Description:platelet activating factor acetylhydrolase 1b regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22409  EPDNEW_H22410  EPDNEW_H22412  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,593,960 - 2,594,020EPDNEW
RGD ID:7233331
Promoter ID:EPDNEW_H22412
Type:initiation region
Name:PAFAH1B1_3
Description:platelet activating factor acetylhydrolase 1b regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22409  EPDNEW_H22410  EPDNEW_H22411  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38172,594,473 - 2,594,533EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8574 AgrOrtholog
COSMIC PAFAH1B1 COSMIC
Ensembl Genes ENSG00000007168 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000397195 ENTREZGENE
  ENST00000397195.10 UniProtKB/Swiss-Prot
  ENST00000570400.2 UniProtKB/TrEMBL
  ENST00000574468.2 UniProtKB/TrEMBL
  ENST00000576586 ENTREZGENE
  ENST00000576586.6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000674608 ENTREZGENE
  ENST00000674608.1 UniProtKB/TrEMBL
  ENST00000674717.1 UniProtKB/TrEMBL
  ENST00000675202 ENTREZGENE
  ENST00000675202.1 UniProtKB/Swiss-Prot
  ENST00000675331 ENTREZGENE
  ENST00000675331.1 UniProtKB/Swiss-Prot
  ENST00000675390.1 UniProtKB/Swiss-Prot
  ENST00000675621.1 UniProtKB/TrEMBL
  ENST00000675764.1 UniProtKB/TrEMBL
  ENST00000676077.1 UniProtKB/TrEMBL
  ENST00000676098.1 UniProtKB/Swiss-Prot
  ENST00000676188.1 UniProtKB/Swiss-Prot
  ENST00000676353 ENTREZGENE
  ENST00000676353.1 UniProtKB/TrEMBL
  ENST00000713668.1 UniProtKB/TrEMBL
  ENST00000713688.1 UniProtKB/TrEMBL
  ENST00000713689.1 UniProtKB/TrEMBL
  ENST00000713690.1 UniProtKB/TrEMBL
  ENST00000713983.1 UniProtKB/TrEMBL
  ENST00000713984.1 UniProtKB/TrEMBL
  ENST00000713986.1 UniProtKB/Swiss-Prot
  ENST00000713987.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.960.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000007168 GTEx
HGNC ID HGNC:8574 ENTREZGENE
Human Proteome Map PAFAH1B1 Human Proteome Map
InterPro Dynein_regulator_LIS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIS1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_LIS1/nudF_dynein_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5048 UniProtKB/Swiss-Prot
NCBI Gene 5048 ENTREZGENE
OMIM 601545 OMIM
PANTHER CHROMOSOME UNDETERMINED SCAFFOLD_275, WHOLE GENOME SHOTGUN SEQUENCE UniProtKB/TrEMBL
  F-BOX/WD REPEAT-CONTAINING PROTEIN SEL-10 UniProtKB/TrEMBL
  PRIMATE-EXPANDED PROTEIN FAMILY UniProtKB/TrEMBL
  WD REPEAT DOMAIN 5B UniProtKB/TrEMBL
  WD REPEAT-CONTAINING PROTEIN POP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 REPEAT PROTEIN UniProtKB/TrEMBL
  WD40 REPEAT PROTEIN UniProtKB/TrEMBL
Pfam LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32905 PharmGKB
PIRSF Dynein_regulator_Lis1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
  GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LISH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109925 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PFT2 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFU3 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PG63 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PGF8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH33_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGM1 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGP0_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGP7_HUMAN UniProtKB/TrEMBL
  A0AAQ5BH67_HUMAN UniProtKB/TrEMBL
  B2R7Q7 ENTREZGENE
  I3L384 ENTREZGENE
  I3L3N5_HUMAN UniProtKB/TrEMBL
  I3L495_HUMAN UniProtKB/TrEMBL
  LIS1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WZ88 ENTREZGENE
  Q8WZ89 ENTREZGENE
UniProt Secondary B2R7Q7 UniProtKB/Swiss-Prot
  I3L384 UniProtKB/TrEMBL
  Q8WZ88 UniProtKB/Swiss-Prot
  Q8WZ89 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PAFAH1B1  platelet activating factor acetylhydrolase 1b regulatory subunit 1  MDCR  Miller-Dieker syndrome chromosome region  Data merged from RGD:1353447 737654 PROVISIONAL
2015-11-24 PAFAH1B1  platelet activating factor acetylhydrolase 1b regulatory subunit 1  PAFAH1B1  platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)  Symbol and/or name change 5135510 APPROVED
2011-07-27 PAFAH1B1  platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)  PAFAH1B1  platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)  Symbol and/or name change 5135510 APPROVED