OSBPL2 (oxysterol binding protein like 2) - Rat Genome Database

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Gene: OSBPL2 (oxysterol binding protein like 2) Homo sapiens
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Symbol: OSBPL2
Name: oxysterol binding protein like 2
RGD ID: 35315983
HGNC Page HGNC:15761
Description: Enables cholesterol binding activity; lipid transfer activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including intracellular cholesterol transport; protein homotetramerization; and regulation of synaptic vesicle priming. Located in cytoplasmic side of plasma membrane; cytosol; and lipid droplet. Is active in glutamatergic synapse. Implicated in autosomal dominant nonsyndromic deafness 67.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DFNA67; DNFA67; ORP-2; ORP2; OSBP-related protein 2; oxysterol-binding protein-related protein 2
RGD Orthologs
Rat
Pig
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382062,238,521 - 62,296,183 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,231,922 - 62,296,213 (+)Ensemblhg38GRCh38
GRCh372060,813,577 - 60,871,239 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20q13.33NCBI
HuRef2057,589,834 - 57,646,867 (+)NCBIHuRef
CHM1_12060,714,603 - 60,772,035 (+)NCBICHM1_1
T2T-CHM13v2.02064,029,614 - 64,087,136 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Proteomics for Studying the Effects of Ketogenic Diet Against Lithium Chloride/Pilocarpine Induced Epilepsy in Rats. Zheng YQ, etal., Front Neurosci. 2020 Sep 29;14:562853. doi: 10.3389/fnins.2020.562853. eCollection 2020.
Additional References at PubMed
PMID:9872452   PMID:10588946   PMID:11181995   PMID:11279184   PMID:11483621   PMID:11735225   PMID:11780052   PMID:11861666   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560  
PMID:17428193   PMID:19224871   PMID:19322201   PMID:19554302   PMID:19913121   PMID:20628086   PMID:21873635   PMID:23028956   PMID:23535732   PMID:24885147   PMID:25077649   PMID:25416956  
PMID:25420878   PMID:25681634   PMID:25759012   PMID:26186194   PMID:26496610   PMID:26992564   PMID:28514442   PMID:29092904   PMID:29947926   PMID:30391516   PMID:30581148   PMID:30590084  
PMID:30894143   PMID:31056421   PMID:31356817   PMID:31427568   PMID:31515488   PMID:31629475   PMID:32296183   PMID:32734583   PMID:32788342   PMID:32914503   PMID:33660365   PMID:33854310  
PMID:33961781   PMID:34079125   PMID:34124795   PMID:34159380   PMID:34636652   PMID:35256949   PMID:35337019   PMID:35384245   PMID:35844135   PMID:36215168   PMID:36577376   PMID:37071682  
PMID:37167062   PMID:37774976   PMID:38701954   PMID:38803224  


Genomics

Comparative Map Data
OSBPL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382062,238,521 - 62,296,183 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,231,922 - 62,296,213 (+)Ensemblhg38GRCh38
GRCh372060,813,577 - 60,871,239 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20q13.33NCBI
HuRef2057,589,834 - 57,646,867 (+)NCBIHuRef
CHM1_12060,714,603 - 60,772,035 (+)NCBICHM1_1
T2T-CHM13v2.02064,029,614 - 64,087,136 (+)NCBIT2T-CHM13v2.0
Osbpl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83187,585,372 - 187,633,827 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl3187,606,937 - 187,639,730 (+)EnsemblGRCr8
mRatBN7.23167,210,945 - 167,256,219 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3167,210,832 - 167,256,219 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx3171,588,135 - 171,633,192 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03180,547,218 - 180,592,280 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03177,211,915 - 177,257,180 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.03175,493,650 - 175,538,965 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3175,493,698 - 175,538,963 (+)Ensemblrn6Rnor6.0
Rnor_5.03181,579,718 - 181,624,997 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.43169,174,367 - 169,219,820 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera3165,323,956 - 165,369,180 (-)NCBICelera
RGSC_v3.13169,080,402 - 169,125,854 (+)NCBI
Cytogenetic Map3q43NCBI
OSBPL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1761,643,377 - 61,685,819 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11761,643,263 - 61,683,178 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Osbpl2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v15157,200,317 - 157,245,079 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in OSBPL2
259 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_144498.4(OSBPL2):c.675-346G>A single nucleotide variant not provided [RCV001571696] Chr20:62280712 [GRCh38]
Chr20:60855768 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.445G>A (p.Gly149Ser) single nucleotide variant not provided [RCV003321167] Chr20:62273360 [GRCh38]
Chr20:60848416 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.76G>A (p.Ala26Thr) single nucleotide variant not provided [RCV000842188]|not specified [RCV000825679] Chr20:62260019 [GRCh38]
Chr20:60835075 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.916T>C (p.Leu306=) single nucleotide variant not provided [RCV000842189] Chr20:62284089 [GRCh38]
Chr20:60859145 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.782+60G>A single nucleotide variant not provided [RCV000842940] Chr20:62281225 [GRCh38]
Chr20:60856281 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.429C>G (p.Ser143=) single nucleotide variant OSBPL2-related disorder [RCV003955537]|not provided [RCV001557915]|not specified [RCV000825796] Chr20:62273344 [GRCh38]
Chr20:60848400 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33		 pathogenic
NM_144498.4(OSBPL2):c.1249+4C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 67 [RCV001788296]|not provided [RCV002062147]|not specified [RCV000608728] Chr20:62289334 [GRCh38]
Chr20:60864390 [GRCh37]
Chr20:20q13.33		 benign
NC_000020.10:g.(?_60831241)_(62664346_?)dup duplication Developmental and epileptic encephalopathy [RCV001316934]|Developmental and epileptic encephalopathy, 33 [RCV001295457] Chr20:60831241..62664346 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.491+26A>G single nucleotide variant not provided [RCV001547008] Chr20:62273432 [GRCh38]
Chr20:60848488 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.674+15G>A single nucleotide variant not provided [RCV001575038] Chr20:62279354 [GRCh38]
Chr20:60854410 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.1300C>T (p.Arg434Trp) single nucleotide variant Inborn genetic diseases [RCV003289825]|not provided [RCV005061167] Chr20:62291753 [GRCh38]
Chr20:60866809 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.873-271C>G single nucleotide variant not provided [RCV001679524] Chr20:62283775 [GRCh38]
Chr20:60858831 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.393+44T>C single nucleotide variant not provided [RCV001574426] Chr20:62272303 [GRCh38]
Chr20:60847359 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1250-24C>G single nucleotide variant not provided [RCV001571128] Chr20:62291679 [GRCh38]
Chr20:60866735 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+219del deletion not provided [RCV001642184] Chr20:62284375 [GRCh38]
Chr20:60859431 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.354C>T (p.His118=) single nucleotide variant not provided [RCV001581783] Chr20:62272220 [GRCh38]
Chr20:60847276 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.492-187T>A single nucleotide variant not provided [RCV001609087] Chr20:62278970 [GRCh38]
Chr20:60854026 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.997-27G>C single nucleotide variant not provided [RCV001549905] Chr20:62286556 [GRCh38]
Chr20:60861612 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1250-138T>C single nucleotide variant not provided [RCV001576469] Chr20:62291565 [GRCh38]
Chr20:60866621 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1045G>A (p.Val349Met) single nucleotide variant Inborn genetic diseases [RCV003247845] Chr20:62286631 [GRCh38]
Chr20:60861687 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs) microsatellite Autosomal dominant nonsyndromic hearing loss 67 [RCV000170349] Chr20:62260096..62260097 [GRCh38]
Chr20:60835152..60835153 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_144498.4(OSBPL2):c.810T>C (p.Phe270=) single nucleotide variant not provided [RCV000913783] Chr20:62281817 [GRCh38]
Chr20:60856873 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.158A>G (p.Gln53Arg) single nucleotide variant not provided [RCV001228854] Chr20:62260101 [GRCh38]
Chr20:60835157 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.997-32G>A single nucleotide variant not provided [RCV001663023] Chr20:62286551 [GRCh38]
Chr20:60861607 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_144498.4(OSBPL2):c.939G>A (p.Ser313=) single nucleotide variant not specified [RCV000611112] Chr20:62284112 [GRCh38]
Chr20:60859168 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs) deletion Autosomal dominant nonsyndromic hearing loss 67 [RCV000170350] Chr20:62260084..62260085 [GRCh38]
Chr20:60835140..60835141 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_144498.4(OSBPL2):c.366C>G (p.Cys122Trp) single nucleotide variant not provided [RCV000992463] Chr20:62272232 [GRCh38]
Chr20:60847288 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1250-3del deletion not provided [RCV001615056]|not specified [RCV000825077] Chr20:62291700 [GRCh38]
Chr20:60866756 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.997-43G>A single nucleotide variant not provided [RCV001576480] Chr20:62286540 [GRCh38]
Chr20:60861596 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+6G>T single nucleotide variant not provided [RCV001575816] Chr20:62284175 [GRCh38]
Chr20:60859231 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1126-309G>A single nucleotide variant not provided [RCV001575959] Chr20:62288898 [GRCh38]
Chr20:60863954 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+219dup duplication not provided [RCV001555094] Chr20:62284374..62284375 [GRCh38]
Chr20:60859430..60859431 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1161C>T (p.Asn387=) single nucleotide variant not provided [RCV001568747] Chr20:62289242 [GRCh38]
Chr20:60864298 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.872+41T>C single nucleotide variant not provided [RCV001684926] Chr20:62281920 [GRCh38]
Chr20:60856976 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.258+132T>A single nucleotide variant not provided [RCV001576982] Chr20:62263823 [GRCh38]
Chr20:60838879 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+218_996+219del deletion not provided [RCV001611221] Chr20:62284375..62284376 [GRCh38]
Chr20:60859431..60859432 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1250-217T>C single nucleotide variant not provided [RCV001619732] Chr20:62291486 [GRCh38]
Chr20:60866542 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.394-20C>A single nucleotide variant not provided [RCV001587474] Chr20:62273289 [GRCh38]
Chr20:60848345 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.675-36T>G single nucleotide variant not provided [RCV001691658] Chr20:62281022 [GRCh38]
Chr20:60856078 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.537C>T (p.His179=) single nucleotide variant OSBPL2-related disorder [RCV003900821]|not provided [RCV001582324] Chr20:62279202 [GRCh38]
Chr20:60854258 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.394-17C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 67 [RCV001788592]|not provided [RCV001595501] Chr20:62273292 [GRCh38]
Chr20:60848348 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.782+31C>T single nucleotide variant not provided [RCV001620941] Chr20:62281196 [GRCh38]
Chr20:60856252 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.674+9C>T single nucleotide variant not provided [RCV001574281] Chr20:62279348 [GRCh38]
Chr20:60854404 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.1126-195C>T single nucleotide variant not provided [RCV001683873] Chr20:62289012 [GRCh38]
Chr20:60864068 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.259-95C>T single nucleotide variant not provided [RCV000842939] Chr20:62272030 [GRCh38]
Chr20:60847086 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.38-6G>A single nucleotide variant not provided [RCV000954321] Chr20:62259975 [GRCh38]
Chr20:60835031 [GRCh37]
Chr20:20q13.33		 benign|likely benign
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_144498.4(OSBPL2):c.1341-6C>T single nucleotide variant OSBPL2-related disorder [RCV003980144]|not provided [RCV002063115]|not specified [RCV000607632] Chr20:62293779 [GRCh38]
Chr20:60868835 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_144498.4(OSBPL2):c.792T>G (p.His264Gln) single nucleotide variant OSBPL2-related disorder [RCV003892759]|not provided [RCV000840101]|not specified [RCV000825682] Chr20:62281799 [GRCh38]
Chr20:60856855 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.1249+127A>G single nucleotide variant not provided [RCV001569694] Chr20:62289457 [GRCh38]
Chr20:60864513 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.182+261C>T single nucleotide variant not provided [RCV001577247] Chr20:62260386 [GRCh38]
Chr20:60835442 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.675-144C>T single nucleotide variant not provided [RCV001596810] Chr20:62280914 [GRCh38]
Chr20:60855970 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.873-185G>A single nucleotide variant not provided [RCV001716589] Chr20:62283861 [GRCh38]
Chr20:60858917 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.598A>G (p.Ile200Val) single nucleotide variant not provided [RCV001723308] Chr20:62279263 [GRCh38]
Chr20:60854319 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
NM_144498.4(OSBPL2):c.*14C>T single nucleotide variant not provided [RCV001594017] Chr20:62293901 [GRCh38]
Chr20:60868957 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.543C>G (p.Pro181=) single nucleotide variant not provided [RCV001589856] Chr20:62279208 [GRCh38]
Chr20:60854264 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.259-321G>T single nucleotide variant not provided [RCV001669367] Chr20:62271804 [GRCh38]
Chr20:60846860 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.38-227_38-209del deletion not provided [RCV001673780] Chr20:62259752..62259770 [GRCh38]
Chr20:60834808..60834826 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.259-48G>A single nucleotide variant not provided [RCV001614689] Chr20:62272077 [GRCh38]
Chr20:60847133 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.996+312A>G single nucleotide variant not provided [RCV001658659] Chr20:62284481 [GRCh38]
Chr20:60859537 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.996+261A>G single nucleotide variant not provided [RCV001694014] Chr20:62284430 [GRCh38]
Chr20:60859486 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.873-12A>G single nucleotide variant not provided [RCV001564692] Chr20:62284034 [GRCh38]
Chr20:60859090 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.182+205G>C single nucleotide variant not provided [RCV001614906] Chr20:62260330 [GRCh38]
Chr20:60835386 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.674+268A>G single nucleotide variant not provided [RCV001696422] Chr20:62279607 [GRCh38]
Chr20:60854663 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.394-117G>T single nucleotide variant not provided [RCV001665975] Chr20:62273192 [GRCh38]
Chr20:60848248 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1341-32A>C single nucleotide variant not provided [RCV001708937] Chr20:62293753 [GRCh38]
Chr20:60868809 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.872+99G>A single nucleotide variant not provided [RCV001691787] Chr20:62281978 [GRCh38]
Chr20:60857034 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.216C>T (p.Ser72=) single nucleotide variant not provided [RCV000974149]|not specified [RCV000825680] Chr20:62263649 [GRCh38]
Chr20:60838705 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.258+9G>A single nucleotide variant OSBPL2-related disorder [RCV003910873]|not provided [RCV001551837] Chr20:62263700 [GRCh38]
Chr20:60838756 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.715G>A (p.Val239Ile) single nucleotide variant Inborn genetic diseases [RCV002568461]|OSBPL2-related disorder [RCV004756273]|not provided [RCV001571534] Chr20:62281098 [GRCh38]
Chr20:60856154 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
NM_144498.4(OSBPL2):c.675-140G>A single nucleotide variant not provided [RCV001569386] Chr20:62280918 [GRCh38]
Chr20:60855974 [GRCh37]
Chr20:20q13.33		 likely benign
NC_000020.10:g.(?_60831241)_(62680869_?)dup duplication Developmental and epileptic encephalopathy [RCV003122564]|Developmental and epileptic encephalopathy, 33 [RCV003107566] Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.996+60G>A single nucleotide variant not provided [RCV001559882] Chr20:62284229 [GRCh38]
Chr20:60859285 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.37+152C>A single nucleotide variant not provided [RCV001720879] Chr20:62256373 [GRCh38]
Chr20:60831429 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.182+311T>A single nucleotide variant not provided [RCV001654331] Chr20:62260436 [GRCh38]
Chr20:60835492 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.183-150C>T single nucleotide variant not provided [RCV001546353] Chr20:62263466 [GRCh38]
Chr20:60838522 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1340+34GCGGGGAGGCCCCACACACACCTGGGGACG[4] microsatellite not provided [RCV001656408] Chr20:62291826..62291827 [GRCh38]
Chr20:60866882..60866883 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1283A>G (p.Glu428Gly) single nucleotide variant not provided [RCV001590366] Chr20:62291736 [GRCh38]
Chr20:60866792 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.675-99G>A single nucleotide variant not provided [RCV001637867] Chr20:62280959 [GRCh38]
Chr20:60856015 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1150G>A (p.Val384Met) single nucleotide variant not provided [RCV001658819] Chr20:62289231 [GRCh38]
Chr20:60864287 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.*23C>G single nucleotide variant OSBPL2-related disorder [RCV003918770]|not provided [RCV001664746]|not specified [RCV001195551] Chr20:62293910 [GRCh38]
Chr20:60868966 [GRCh37]
Chr20:20q13.33		 benign|likely benign
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.609G>A (p.Lys203=) single nucleotide variant not specified [RCV000606858] Chr20:62279274 [GRCh38]
Chr20:60854330 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3 copy number gain See cases [RCV000137839] Chr20:61588953..62241744 [GRCh38]
Chr20:60164009..60816800 [GRCh37]
Chr20:59597404..60250195 [NCBI36]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.873-326A>G single nucleotide variant not provided [RCV001616737] Chr20:62283720 [GRCh38]
Chr20:60858776 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_144498.4(OSBPL2):c.660C>T (p.Thr220=) single nucleotide variant OSBPL2-related disorder [RCV003905637]|not provided [RCV000879596] Chr20:62279325 [GRCh38]
Chr20:60854381 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.225C>T (p.Ser75=) single nucleotide variant not provided [RCV000840676] Chr20:62263658 [GRCh38]
Chr20:60838714 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.*4C>T single nucleotide variant not provided [RCV000992462] Chr20:62293891 [GRCh38]
Chr20:60868947 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
NM_144498.4(OSBPL2):c.226G>A (p.Val76Met) single nucleotide variant Inborn genetic diseases [RCV004958185]|not provided [RCV001731950]|not specified [RCV000825409] Chr20:62263659 [GRCh38]
Chr20:60838715 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.*23C>T single nucleotide variant not provided [RCV001545629]|not specified [RCV000825683] Chr20:62293910 [GRCh38]
Chr20:60868966 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.1020C>T (p.Asp340=) single nucleotide variant not provided [RCV000928853] Chr20:62286606 [GRCh38]
Chr20:60861662 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely pathogenic
NM_144498.4(OSBPL2):c.661C>T (p.Leu221=) single nucleotide variant not provided [RCV000974150]|not specified [RCV000825681] Chr20:62279326 [GRCh38]
Chr20:60854382 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.189G>A (p.Ser63=) single nucleotide variant not provided [RCV000942687] Chr20:62263622 [GRCh38]
Chr20:60838678 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1126-9G>A single nucleotide variant not provided [RCV000948060]|not specified [RCV000603701] Chr20:62289198 [GRCh38]
Chr20:60864254 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.872+8C>T single nucleotide variant not provided [RCV000950864]|not specified [RCV000615762] Chr20:62281887 [GRCh38]
Chr20:60856943 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1125+15A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 67 [RCV001788300]|not provided [RCV001683604]|not specified [RCV000616444] Chr20:62286726 [GRCh38]
Chr20:60861782 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.30C>T (p.Ala10=) single nucleotide variant not specified [RCV000616679] Chr20:62256214 [GRCh38]
Chr20:60831270 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg) single nucleotide variant Inborn genetic diseases [RCV003302913]|not provided [RCV000594541] Chr20:62281840 [GRCh38]
Chr20:60856896 [GRCh37]
Chr20:20q13.33		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60691126-60920798)x3 copy number gain not provided [RCV000684108] Chr20:60691126..60920798 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.180_181del (p.His60fs) microsatellite Autosomal dominant nonsyndromic hearing loss 67 [RCV001255991] Chr20:62260120..62260121 [GRCh38]
Chr20:60835176..60835177 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs) deletion Autosomal dominant nonsyndromic hearing loss 67 [RCV003135912]|not provided [RCV001268813] Chr20:62260101..62260102 [GRCh38]
Chr20:60835157..60835158 [GRCh37]
Chr20:20q13.33		 pathogenic
NM_144498.4(OSBPL2):c.492-302G>A single nucleotide variant not provided [RCV001581427] Chr20:62278855 [GRCh38]
Chr20:60853911 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1021A>G (p.Ser341Gly) single nucleotide variant not provided [RCV001289041] Chr20:62286607 [GRCh38]
Chr20:60861663 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 67 [RCV001353226] Chr20:62279237 [GRCh38]
Chr20:60854293 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.183-239G>A single nucleotide variant not provided [RCV001540005] Chr20:62263377 [GRCh38]
Chr20:60838433 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+156A>G single nucleotide variant not provided [RCV001694601] Chr20:62284325 [GRCh38]
Chr20:60859381 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.873-173G>A single nucleotide variant not provided [RCV001590829] Chr20:62283873 [GRCh38]
Chr20:60858929 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1249+11G>A single nucleotide variant not provided [RCV001665139] Chr20:62289341 [GRCh38]
Chr20:60864397 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.782+3G>A single nucleotide variant not provided [RCV001588773] Chr20:62281168 [GRCh38]
Chr20:60856224 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1250-172C>A single nucleotide variant not provided [RCV001589510] Chr20:62291531 [GRCh38]
Chr20:60866587 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.37+102C>G single nucleotide variant not provided [RCV001592250] Chr20:62256323 [GRCh38]
Chr20:60831379 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1125+20C>T single nucleotide variant not provided [RCV001590748] Chr20:62286731 [GRCh38]
Chr20:60861787 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.1125+223G>T single nucleotide variant not provided [RCV001584962] Chr20:62286934 [GRCh38]
Chr20:60861990 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1125+271A>G single nucleotide variant not provided [RCV001587644] Chr20:62286982 [GRCh38]
Chr20:60862038 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.37+23G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 67 [RCV001788824]|not provided [RCV001715645] Chr20:62256244 [GRCh38]
Chr20:60831300 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.492-159A>G single nucleotide variant not provided [RCV001708799] Chr20:62278998 [GRCh38]
Chr20:60854054 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1188C>T (p.Thr396=) single nucleotide variant not provided [RCV001716443] Chr20:62289269 [GRCh38]
Chr20:60864325 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.128G>T (p.Arg43Met) single nucleotide variant not provided [RCV001730438] Chr20:62260071 [GRCh38]
Chr20:60835127 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
NM_144498.4(OSBPL2):c.194C>T (p.Pro65Leu) single nucleotide variant not provided [RCV002255084] Chr20:62263627 [GRCh38]
Chr20:60838683 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1099A>G (p.Asn367Asp) single nucleotide variant not provided [RCV001771235] Chr20:62286685 [GRCh38]
Chr20:60861741 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.888_890delinsATG (p.Phe296_Met297delinsLeuTrp) indel Autosomal dominant nonsyndromic hearing loss 67 [RCV001799528] Chr20:62284061..62284063 [GRCh38]
Chr20:60859117..60859119 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.374A>C (p.Gln125Pro) single nucleotide variant not provided [RCV001774311] Chr20:62272240 [GRCh38]
Chr20:60847296 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.-129+12C>T single nucleotide variant not provided [RCV004717846]|not specified [RCV001733756] Chr20:62238609 [GRCh38]
Chr20:60813665 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.1250-173del deletion not provided [RCV001786621] Chr20:62291529 [GRCh38]
Chr20:60866585 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.675-13G>A single nucleotide variant not provided [RCV001763227] Chr20:62281045 [GRCh38]
Chr20:60856101 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.589C>T (p.His197Tyr) single nucleotide variant not provided [RCV004809352] Chr20:62279254 [GRCh38]
Chr20:60854310 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.872+6T>G single nucleotide variant not provided [RCV001946219] Chr20:62281885 [GRCh38]
Chr20:60856941 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1059C>T (p.Thr353=) single nucleotide variant not provided [RCV001949342] Chr20:62286645 [GRCh38]
Chr20:60861701 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.607A>C (p.Lys203Gln) single nucleotide variant Inborn genetic diseases [RCV005397222]|not provided [RCV002008069] Chr20:62279272 [GRCh38]
Chr20:60854328 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.851A>G (p.Glu284Gly) single nucleotide variant not provided [RCV001954221] Chr20:62281858 [GRCh38]
Chr20:60856914 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.5A>G (p.Asn2Ser) single nucleotide variant not provided [RCV002051045] Chr20:62256189 [GRCh38]
Chr20:60831245 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.375G>T (p.Gln125His) single nucleotide variant not provided [RCV002029132] Chr20:62272241 [GRCh38]
Chr20:60847297 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1026C>T (p.Asp342=) single nucleotide variant Inborn genetic diseases [RCV004958486]|not provided [RCV002226148] Chr20:62286612 [GRCh38]
Chr20:60861668 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1035C>T (p.Asp345=) single nucleotide variant not provided [RCV002185129] Chr20:62286621 [GRCh38]
Chr20:60861677 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1442G>A (p.Ter481=) single nucleotide variant not provided [RCV002145008] Chr20:62293886 [GRCh38]
Chr20:60868942 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.639G>A (p.Ala213=) single nucleotide variant not provided [RCV002146509] Chr20:62279304 [GRCh38]
Chr20:60854360 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.714C>T (p.Cys238=) single nucleotide variant not provided [RCV002185027] Chr20:62281097 [GRCh38]
Chr20:60856153 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.182+8C>G single nucleotide variant not provided [RCV002106829] Chr20:62260133 [GRCh38]
Chr20:60835189 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1371T>G (p.Thr457=) single nucleotide variant not provided [RCV002153155] Chr20:62293815 [GRCh38]
Chr20:60868871 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.540C>G (p.Pro180=) single nucleotide variant not provided [RCV002193854] Chr20:62279205 [GRCh38]
Chr20:60854261 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1341-20C>T single nucleotide variant not provided [RCV002135243] Chr20:62293765 [GRCh38]
Chr20:60868821 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1380C>T (p.Pro460=) single nucleotide variant not provided [RCV002133308] Chr20:62293824 [GRCh38]
Chr20:60868880 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.519G>A (p.Ser173=) single nucleotide variant not provided [RCV002151941] Chr20:62279184 [GRCh38]
Chr20:60854240 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.173A>C (p.Gln58Pro) single nucleotide variant Inborn genetic diseases [RCV003355831]|OSBPL2-related disorder [RCV004756379]|not provided [RCV002221766] Chr20:62260116 [GRCh38]
Chr20:60835172 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1126-14G>T single nucleotide variant not provided [RCV002121428] Chr20:62289193 [GRCh38]
Chr20:60864249 [GRCh37]
Chr20:20q13.33		 likely benign
NC_000020.10:g.(?_60861619)_(60890283_?)dup duplication not provided [RCV003123123] Chr20:60861619..60890283 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_60854193)_(60886170_?)dup duplication not provided [RCV003123124] Chr20:60854193..60886170 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.162G>C (p.Glu54Asp) single nucleotide variant not provided [RCV003149368] Chr20:62260105 [GRCh38]
Chr20:60835161 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.996+15G>A single nucleotide variant not provided [RCV002771357] Chr20:62284184 [GRCh38]
Chr20:60859240 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1064A>G (p.Gln355Arg) single nucleotide variant Inborn genetic diseases [RCV002752901] Chr20:62286650 [GRCh38]
Chr20:60861706 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.183-12T>G single nucleotide variant not provided [RCV002617229] Chr20:62263604 [GRCh38]
Chr20:60838660 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.394-18C>G single nucleotide variant not provided [RCV002618095] Chr20:62273291 [GRCh38]
Chr20:60848347 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+20C>T single nucleotide variant not provided [RCV002622699] Chr20:62284189 [GRCh38]
Chr20:60859245 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.294C>T (p.Asn98=) single nucleotide variant not provided [RCV002999237] Chr20:62272160 [GRCh38]
Chr20:60847216 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1137C>T (p.Phe379=) single nucleotide variant not provided [RCV003018543] Chr20:62289218 [GRCh38]
Chr20:60864274 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.101T>C (p.Ile34Thr) single nucleotide variant Inborn genetic diseases [RCV002804342] Chr20:62260044 [GRCh38]
Chr20:60835100 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.183-31_183-13del deletion not provided [RCV002625539] Chr20:62263583..62263601 [GRCh38]
Chr20:60838639..60838657 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.124A>C (p.Asn42His) single nucleotide variant not provided [RCV003042699] Chr20:62260067 [GRCh38]
Chr20:60835123 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1094G>A (p.Arg365Lys) single nucleotide variant Inborn genetic diseases [RCV002747550] Chr20:62286680 [GRCh38]
Chr20:60861736 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.908C>T (p.Thr303Met) single nucleotide variant not provided [RCV002720593] Chr20:62284081 [GRCh38]
Chr20:60859137 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1087C>T (p.Leu363Phe) single nucleotide variant Inborn genetic diseases [RCV002809033] Chr20:62286673 [GRCh38]
Chr20:60861729 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.100A>G (p.Ile34Val) single nucleotide variant Inborn genetic diseases [RCV002769133]|not provided [RCV005052025] Chr20:62260043 [GRCh38]
Chr20:60835099 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1295A>C (p.Glu432Ala) single nucleotide variant not provided [RCV002600442] Chr20:62291748 [GRCh38]
Chr20:60866804 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.815C>T (p.Pro272Leu) single nucleotide variant Inborn genetic diseases [RCV002934979] Chr20:62281822 [GRCh38]
Chr20:60856878 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.727A>G (p.Ile243Val) single nucleotide variant not provided [RCV002962438] Chr20:62281110 [GRCh38]
Chr20:60856166 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.631G>A (p.Val211Met) single nucleotide variant not provided [RCV003052728] Chr20:62279296 [GRCh38]
Chr20:60854352 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.182+15G>A single nucleotide variant not provided [RCV002585909]|not specified [RCV005239452] Chr20:62260140 [GRCh38]
Chr20:60835196 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.151C>T (p.Pro51Ser) single nucleotide variant Inborn genetic diseases [RCV003216114] Chr20:62260094 [GRCh38]
Chr20:60835150 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_144498.4(OSBPL2):c.841C>A (p.His281Asn) single nucleotide variant not provided [RCV003325745] Chr20:62281848 [GRCh38]
Chr20:60856904 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1169A>C (p.Glu390Ala) single nucleotide variant not provided [RCV003332453] Chr20:62289250 [GRCh38]
Chr20:60864306 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1141A>G (p.Ser381Gly) single nucleotide variant Inborn genetic diseases [RCV003362519] Chr20:62289222 [GRCh38]
Chr20:60864278 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.872+4G>T single nucleotide variant not provided [RCV003543190] Chr20:62281883 [GRCh38]
Chr20:60856939 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.183-4G>C single nucleotide variant not provided [RCV003571616] Chr20:62263612 [GRCh38]
Chr20:60838668 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1173A>T (p.Thr391=) single nucleotide variant not provided [RCV003570301] Chr20:62289254 [GRCh38]
Chr20:60864310 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1228G>A (p.Gly410Ser) single nucleotide variant OSBPL2-related disorder [RCV003422490] Chr20:62289309 [GRCh38]
Chr20:60864365 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1125+144G>A single nucleotide variant not provided [RCV003440475] Chr20:62286855 [GRCh38]
Chr20:60861911 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.996G>A (p.Leu332=) single nucleotide variant not provided [RCV003442589] Chr20:62284169 [GRCh38]
Chr20:60859225 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1126-15_1126-14del microsatellite not provided [RCV003880278] Chr20:62289190..62289191 [GRCh38]
Chr20:60864246..60864247 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.543C>A (p.Pro181=) single nucleotide variant not provided [RCV003826260] Chr20:62279208 [GRCh38]
Chr20:60854264 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1337C>T (p.Thr446Met) single nucleotide variant not provided [RCV003826595] Chr20:62291790 [GRCh38]
Chr20:60866846 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.66A>G (p.Glu22=) single nucleotide variant not provided [RCV003544975] Chr20:62260009 [GRCh38]
Chr20:60835065 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.623G>T (p.Gly208Val) single nucleotide variant not provided [RCV003696034] Chr20:62279288 [GRCh38]
Chr20:60854344 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1325C>T (p.Ala442Val) single nucleotide variant not provided [RCV003715008] Chr20:62291778 [GRCh38]
Chr20:60866834 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1341-5G>A single nucleotide variant not provided [RCV003573696] Chr20:62293780 [GRCh38]
Chr20:60868836 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1436T>C (p.Ile479Thr) single nucleotide variant Inborn genetic diseases [RCV004953623]|not provided [RCV003876948] Chr20:62293880 [GRCh38]
Chr20:60868936 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1338G>A (p.Thr446=) single nucleotide variant not provided [RCV003662561] Chr20:62291791 [GRCh38]
Chr20:60866847 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1200G>A (p.Thr400=) single nucleotide variant not provided [RCV005105148]|not specified [RCV004799945] Chr20:62289281 [GRCh38]
Chr20:60864337 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1248G>A (p.Met416Ile) single nucleotide variant not provided [RCV003548456] Chr20:62289329 [GRCh38]
Chr20:60864385 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.195G>A (p.Pro65=) single nucleotide variant not provided [RCV003725373] Chr20:62263628 [GRCh38]
Chr20:60838684 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.782+17G>A single nucleotide variant not provided [RCV003816113] Chr20:62281182 [GRCh38]
Chr20:60856238 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.733G>A (p.Gly245Arg) single nucleotide variant not provided [RCV003559678] Chr20:62281116 [GRCh38]
Chr20:60856172 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.492-10T>C single nucleotide variant not provided [RCV003710132] Chr20:62279147 [GRCh38]
Chr20:60854203 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1009G>A (p.Gly337Arg) single nucleotide variant not provided [RCV003553558] Chr20:62286595 [GRCh38]
Chr20:60861651 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.283A>G (p.Ile95Val) single nucleotide variant not provided [RCV003722793] Chr20:62272149 [GRCh38]
Chr20:60847205 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.552G>A (p.Ala184=) single nucleotide variant not provided [RCV003733220] Chr20:62279217 [GRCh38]
Chr20:60854273 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.872+15A>C single nucleotide variant not provided [RCV003679813] Chr20:62281894 [GRCh38]
Chr20:60856950 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1341-19C>G single nucleotide variant not provided [RCV003843415] Chr20:62293766 [GRCh38]
Chr20:60868822 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33		 pathogenic
NM_144498.4(OSBPL2):c.432G>A (p.Gln144=) single nucleotide variant OSBPL2-related disorder [RCV004756823]|not provided [RCV005103780] Chr20:62273347 [GRCh38]
Chr20:60848403 [GRCh37]
Chr20:20q13.33		 benign|likely benign
NM_144498.4(OSBPL2):c.323C>T (p.Thr108Met) single nucleotide variant OSBPL2-related disorder [RCV004732434] Chr20:62272189 [GRCh38]
Chr20:60847245 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.977_980del (p.His326fs) deletion not provided [RCV004776006] Chr20:62284150..62284153 [GRCh38]
Chr20:60859206..60859209 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.278T>C (p.Met93Thr) single nucleotide variant not provided [RCV004773739] Chr20:62272144 [GRCh38]
Chr20:60847200 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.179A>G (p.His60Arg) single nucleotide variant not provided [RCV005089087] Chr20:62260122 [GRCh38]
Chr20:60835178 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.675-15C>T single nucleotide variant not provided [RCV005088948] Chr20:62281043 [GRCh38]
Chr20:60856099 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.822A>T (p.Gly274=) single nucleotide variant not provided [RCV005064361] Chr20:62281829 [GRCh38]
Chr20:60856885 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.393+11G>T single nucleotide variant not provided [RCV005066451] Chr20:62272270 [GRCh38]
Chr20:60847326 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.674+14C>T single nucleotide variant not provided [RCV005069960] Chr20:62279353 [GRCh38]
Chr20:60854409 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.492-8T>C single nucleotide variant not specified [RCV005238322] Chr20:62279149 [GRCh38]
Chr20:60854205 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.138A>G (p.Lys46=) single nucleotide variant not provided [RCV005164887] Chr20:62260081 [GRCh38]
Chr20:60835137 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1077C>T (p.Gly359=) single nucleotide variant not provided [RCV005068712] Chr20:62286663 [GRCh38]
Chr20:60861719 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.62G>C (p.Gly21Ala) single nucleotide variant not provided [RCV005115978] Chr20:62260005 [GRCh38]
Chr20:60835061 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.766G>C (p.Glu256Gln) single nucleotide variant Inborn genetic diseases [RCV005390670] Chr20:62281149 [GRCh38]
Chr20:60856205 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.608A>T (p.Lys203Met) single nucleotide variant Inborn genetic diseases [RCV005390671] Chr20:62279273 [GRCh38]
Chr20:60854329 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1227C>T (p.Arg409=) single nucleotide variant not specified [RCV005238395] Chr20:62289308 [GRCh38]
Chr20:60864364 [GRCh37]
Chr20:20q13.33		 likely benign
NC_000020.10:g.(60864387_60866758)_(60871240_?)dup duplication not specified [RCV005237153] Chr20:60866758..60871240 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1249+9A>G single nucleotide variant not provided [RCV005159172] Chr20:62289339 [GRCh38]
Chr20:60864395 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1376C>T (p.Thr459Ile) single nucleotide variant not provided [RCV005167370] Chr20:62293820 [GRCh38]
Chr20:60868876 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1433A>G (p.Asp478Gly) single nucleotide variant not provided [RCV005169712] Chr20:62293877 [GRCh38]
Chr20:60868933 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1125+35G>A single nucleotide variant not provided [RCV001664982] Chr20:62286746 [GRCh38]
Chr20:60861802 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
NM_144498.4(OSBPL2):c.1125+257C>T single nucleotide variant not provided [RCV001587716] Chr20:62286968 [GRCh38]
Chr20:60862024 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.518C>T (p.Ser173Leu) single nucleotide variant not provided [RCV001773036] Chr20:62279183 [GRCh38]
Chr20:60854239 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1112C>T (p.Pro371Leu) single nucleotide variant not provided [RCV001752617] Chr20:62286698 [GRCh38]
Chr20:60861754 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.388A>T (p.Met130Leu) single nucleotide variant not provided [RCV001771182] Chr20:62272254 [GRCh38]
Chr20:60847310 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.997-33C>T single nucleotide variant not provided [RCV001732944] Chr20:62286550 [GRCh38]
Chr20:60861606 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.259-5T>C single nucleotide variant not provided [RCV002029573] Chr20:62272120 [GRCh38]
Chr20:60847176 [GRCh37]
Chr20:20q13.33		 likely benign|uncertain significance
NM_144498.4(OSBPL2):c.1149T>C (p.Thr383=) single nucleotide variant not provided [RCV002147507] Chr20:62289230 [GRCh38]
Chr20:60864286 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.782+15C>T single nucleotide variant not provided [RCV002185703] Chr20:62281180 [GRCh38]
Chr20:60856236 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.908del (p.Thr303fs) deletion not provided [RCV003156670] Chr20:62284081 [GRCh38]
Chr20:60859137 [GRCh37]
Chr20:20q13.33		 uncertain significance
Single allele duplication not specified [RCV002286379] Chr20:61800345..63644611 [GRCh38]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.695G>A (p.Trp232Ter) single nucleotide variant not provided [RCV002511448] Chr20:62281078 [GRCh38]
Chr20:60856134 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1341-18C>A single nucleotide variant not provided [RCV002755342] Chr20:62293767 [GRCh38]
Chr20:60868823 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1038C>T (p.Asp346=) single nucleotide variant OSBPL2-related disorder [RCV003936601]|not provided [RCV002616044] Chr20:62286624 [GRCh38]
Chr20:60861680 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.996+20del deletion not provided [RCV002781230] Chr20:62284186 [GRCh38]
Chr20:60859242 [GRCh37]
Chr20:20q13.33		 benign
NM_144498.4(OSBPL2):c.313C>G (p.Gln105Glu) single nucleotide variant not provided [RCV003031267] Chr20:62272179 [GRCh38]
Chr20:60847235 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1423G>A (p.Asp475Asn) single nucleotide variant not provided [RCV002606953] Chr20:62293867 [GRCh38]
Chr20:60868923 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.58T>C (p.Ser20Pro) single nucleotide variant not provided [RCV003149475] Chr20:62260001 [GRCh38]
Chr20:60835057 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.185C>T (p.Thr62Ile) single nucleotide variant Inborn genetic diseases [RCV003386047] Chr20:62263618 [GRCh38]
Chr20:60838674 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.782+16C>T single nucleotide variant not provided [RCV003826980] Chr20:62281181 [GRCh38]
Chr20:60856237 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.371C>T (p.Pro124Leu) single nucleotide variant not provided [RCV003673603] Chr20:62272237 [GRCh38]
Chr20:60847293 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.276G>A (p.Thr92=) single nucleotide variant OSBPL2-related disorder [RCV003907184]|not provided [RCV005064781] Chr20:62272142 [GRCh38]
Chr20:60847198 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.37+9_37+13del deletion OSBPL2-related disorder [RCV003962188] Chr20:62256229..62256233 [GRCh38]
Chr20:60831285..60831289 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1098C>G (p.Ile366Met) single nucleotide variant Inborn genetic diseases [RCV004504416] Chr20:62286684 [GRCh38]
Chr20:60861740 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.45T>A (p.Asp15Glu) single nucleotide variant Inborn genetic diseases [RCV004504418] Chr20:62259988 [GRCh38]
Chr20:60835044 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.286G>A (p.Ala96Thr) single nucleotide variant Inborn genetic diseases [RCV004504417] Chr20:62272152 [GRCh38]
Chr20:60847208 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.89T>A (p.Val30Asp) single nucleotide variant Inborn genetic diseases [RCV004661869] Chr20:62260032 [GRCh38]
Chr20:60835088 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.376C>T (p.Pro126Ser) single nucleotide variant Inborn genetic diseases [RCV004661870]|not provided [RCV005059703] Chr20:62272242 [GRCh38]
Chr20:60847298 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_60831241)_(62051045_?)dup duplication Developmental and epileptic encephalopathy [RCV004579421] Chr20:60831241..62051045 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1324G>A (p.Ala442Thr) single nucleotide variant Inborn genetic diseases [RCV004648000] Chr20:62291777 [GRCh38]
Chr20:60866833 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1043C>G (p.Pro348Arg) single nucleotide variant not provided [RCV004592243] Chr20:62286629 [GRCh38]
Chr20:60861685 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.751C>T (p.Gln251Ter) single nucleotide variant not provided [RCV004801714] Chr20:62281134 [GRCh38]
Chr20:60856190 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.-128-1G>C single nucleotide variant not provided [RCV004729434] Chr20:62256056 [GRCh38]
Chr20:60831112 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.59C>T (p.Ser20Phe) single nucleotide variant not provided [RCV005052666] Chr20:62260002 [GRCh38]
Chr20:60835058 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.308T>G (p.Phe103Cys) single nucleotide variant not provided [RCV005001573] Chr20:62272174 [GRCh38]
Chr20:60847230 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.637G>A (p.Ala213Thr) single nucleotide variant Inborn genetic diseases [RCV004954246] Chr20:62279302 [GRCh38]
Chr20:60854358 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.109G>A (p.Asp37Asn) single nucleotide variant not provided [RCV004820584] Chr20:62260052 [GRCh38]
Chr20:60835108 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.1126-14G>A single nucleotide variant not provided [RCV005170737] Chr20:62289193 [GRCh38]
Chr20:60864249 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.6C>T (p.Asn2=) single nucleotide variant not provided [RCV005190282] Chr20:62256190 [GRCh38]
Chr20:60831246 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.31G>A (p.Val11Ile) single nucleotide variant not provided [RCV005162691] Chr20:62256215 [GRCh38]
Chr20:60831271 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.675-20G>A single nucleotide variant not provided [RCV005160659] Chr20:62281038 [GRCh38]
Chr20:60856094 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.1274G>A (p.Arg425Gln) single nucleotide variant not provided [RCV005166882] Chr20:62291727 [GRCh38]
Chr20:60866783 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.675-11T>C single nucleotide variant not provided [RCV005117843] Chr20:62281047 [GRCh38]
Chr20:60856103 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.38-7C>T single nucleotide variant not provided [RCV005184703] Chr20:62259974 [GRCh38]
Chr20:60835030 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.997-19G>A single nucleotide variant not specified [RCV005408468] Chr20:62286564 [GRCh38]
Chr20:60861620 [GRCh37]
Chr20:20q13.33		 likely benign
NM_144498.4(OSBPL2):c.393G>A (p.Gln131=) single nucleotide variant not provided [RCV005402457] Chr20:62272259 [GRCh38]
Chr20:60847315 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.950T>C (p.Phe317Ser) single nucleotide variant Inborn genetic diseases [RCV005390669] Chr20:62284123 [GRCh38]
Chr20:60859179 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.130A>T (p.Ile44Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 67 [RCV005400085] Chr20:62260073 [GRCh38]
Chr20:60835129 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_144498.4(OSBPL2):c.724G>A (p.Val242Ile) single nucleotide variant not provided [RCV005256347] Chr20:62281107 [GRCh38]
Chr20:60856163 [GRCh37]
Chr20:20q13.33		 uncertain significance

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597994148GWAS1713447_Hglomerular filtration rate QTL GWAS1713447 (human)4e-13glomerular filtration rate206228370262283703Human
407254469GWAS903445_Hbrain measurement QTL GWAS903445 (human)6e-10brain measurement206224612462246125Human
407103430GWAS752406_Hreticulocyte count QTL GWAS752406 (human)2e-17reticulocyte count206225110562251106Human
617098447GWAS2115946_Hreticulocyte amount QTL GWAS2115946 (human)2e-15reticulocyte amount206225110562251106Human
628442493GWAS2350722_Hlymphocyte count QTL GWAS2350722 (human)7e-12lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)206226627362266274Human
407303372GWAS952348_Hlymphocyte count QTL GWAS952348 (human)7e-12lymphocyte count206226627362266274Human
407004238GWAS653214_Hmean platelet volume QTL GWAS653214 (human)2e-10mean platelet volume206229075962290760Human
407346633GWAS995609_Hcortical thickness QTL GWAS995609 (human)6e-11cortical thickness206224612462246125Human
628536167GWAS2444396_Hreticulocyte amount QTL GWAS2444396 (human)2e-15reticulocyte amount206225110562251106Human
597019782GWAS1115856_Hspine bone mineral density QTL GWAS1115856 (human)2e-08spine bone mineral density206225174862251749Human
628880109GWAS2788338_Heducational attainment QTL GWAS2788338 (human)2e-09educational attainment206224069962240700Human
597815991GWAS1683382_Hbipolar disorder QTL GWAS1683382 (human)5e-15bipolar disorder206225881462258815Human
617121488GWAS2138987_Hreticulocyte count QTL GWAS2138987 (human)1e-15reticulocyte count206225110562251106Human
596971919GWAS1091438_Hglomerular filtration rate, bipolar disorder QTL GWAS1091438 (human)5e-15glomerular filtration rate, bipolar disorder206225881462258815Human
597221378GWAS1317452_Hbipolar disorder QTL GWAS1317452 (human)9e-09bipolar disorder206229075962290760Human
625828566GWAS2249488_HHIV infection QTL GWAS2249488 (human)3e-08HIV infection206225467262254673Human
407103199GWAS752175_Hreticulocyte measurement QTL GWAS752175 (human)5e-19reticulocyte measurement206225110562251106Human
406914399GWAS563375_Hbipolar disorder QTL GWAS563375 (human)9e-09bipolar disorder206229075962290760Human
616554144GWAS1950727_Hreticulocyte amount QTL GWAS1950727 (human)7e-18reticulocyte amount206225110562251106Human
597984315GWAS1703614_Hplatelet volume QTL GWAS1703614 (human)2e-10platelet volume206229075962290760Human
616531999GWAS1928582_Hreticulocyte amount QTL GWAS1928582 (human)2e-15reticulocyte amount206225110562251106Human
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
617102314GWAS2119813_Hreticulocyte count QTL GWAS2119813 (human)3e-14reticulocyte count206225110562251106Human
598030598GWAS1749897_Hbipolar disorder, glomerular filtration rate QTL GWAS1749897 (human)5e-15bipolar disorder, glomerular filtration rate206225881462258815Human
406942565GWAS591541_Hnicotine dependence symptom count QTL GWAS591541 (human)0.000004nicotine dependence symptom count206228341462283415Human
407083238GWAS732214_Hglomerular filtration rate QTL GWAS732214 (human)4e-13glomerular filtration rate206228370262283703Human
628824028GWAS2732257_Hreticulocyte amount QTL GWAS2732257 (human)7e-18reticulocyte amount206225110562251106Human
628402653GWAS2310882_Hreticulocyte amount QTL GWAS2310882 (human)1e-17reticulocyte amount206225110562251106Human
406891114GWAS540090_Hspine bone mineral density QTL GWAS540090 (human)2e-08spine bone mineral density206225174862251749Human
597106364GWAS1202438_Hreticulocyte count QTL GWAS1202438 (human)2e-17reticulocyte count206225110562251106Human
597019704GWAS1115778_Hfemoral neck bone mineral density QTL GWAS1115778 (human)0.000008femoral neck bone mineral density206225174862251749Human
616533393GWAS1929976_Hreticulocyte count QTL GWAS1929976 (human)3e-14reticulocyte count206225110562251106Human
628825162GWAS2733391_Hreticulocyte count QTL GWAS2733391 (human)1e-15reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)206225110562251106Human
628406214GWAS2314443_Hreticulocyte amount QTL GWAS2314443 (human)5e-19reticulocyte amount206225110562251106Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
628616399GWAS2524628_Hspine bone mineral density QTL GWAS2524628 (human)2e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)206225174862251749Human
628694850GWAS2603079_Hbrain attribute QTL GWAS2603079 (human)6e-10brain attribute206224612462246125Human
628616394GWAS2524623_Hfemoral neck bone mineral density QTL GWAS2524623 (human)0.000008bone mineralization trait (VT:0002896)bone mineral density (CMO:0001226)206225174862251749Human
597289554GWAS1385628_Hglomerular filtration rate, bipolar disorder QTL GWAS1385628 (human)5e-15glomerular filtration rate, bipolar disorder206225881462258815Human
616510067GWAS1906650_Hreticulocyte amount QTL GWAS1906650 (human)1e-17reticulocyte amount206225110562251106Human
597030491GWAS1126565_Hglomerular filtration rate QTL GWAS1126565 (human)4e-13glomerular filtration rate206228370262283703Human
628697000GWAS2605229_Hcortical thickness QTL GWAS2605229 (human)6e-11cerebral cortex morphology trait (VT:0000788)206224612462246125Human
407360915GWAS1009891_Heducational attainment QTL GWAS1009891 (human)2e-09educational attainment206224069962240700Human
628406177GWAS2314406_Hreticulocyte count QTL GWAS2314406 (human)2e-17reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)206225110562251106Human
598064767GWAS1784066_Hbrain attribute QTL GWAS1784066 (human)6e-10brain attribute206224612462246125Human
628737955GWAS2646184_Hbipolar disorder QTL GWAS2646184 (human)9e-09bipolar disorder206229075962290760Human
628816806GWAS2725035_Hbipolar disorder, glomerular filtration rate QTL GWAS2725035 (human)5e-15bipolar disorder, glomerular filtration rate206225881462258815Human
628401300GWAS2309529_Hreticulocyte count QTL GWAS2309529 (human)1e-16reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)206225110562251106Human
628532503GWAS2440732_Hreticulocyte count QTL GWAS2440732 (human)3e-14reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)206225110562251106Human
616556636GWAS1953219_Hreticulocyte count QTL GWAS1953219 (human)1e-15reticulocyte count206225110562251106Human
628622875GWAS2531104_Hglomerular filtration rate QTL GWAS2531104 (human)4e-13glomerular filtration rate206228370262283703Human
616506459GWAS1903042_Hreticulocyte amount QTL GWAS1903042 (human)5e-19reticulocyte amount206225110562251106Human
628906136GWAS2814365_HHIV infection QTL GWAS2814365 (human)3e-08response to viral infection trait (VT:0010439)206225467262254673Human
406893607GWAS542583_Hfemoral neck bone mineral density QTL GWAS542583 (human)0.000008femoral neck bone mineral density206225174862251749Human
597315440GWAS1411514_Hcortical thickness QTL GWAS1411514 (human)6e-11cortical thickness206224612462246125Human
597096700GWAS1192774_Hreticulocyte measurement QTL GWAS1192774 (human)5e-19reticulocyte measurement206225110562251106Human
628402073GWAS2310302_Hnicotine dependence symptom count QTL GWAS2310302 (human)0.000004response to nicotine trait (VT:0010721)206228341462283415Human
597275638GWAS1371712_Heducational attainment QTL GWAS1371712 (human)2e-09educational attainment206224069962240700Human
597082849GWAS1178923_Hmean platelet volume QTL GWAS1178923 (human)2e-10mean platelet volume206229075962290760Human
406998970GWAS647946_Hreticulocyte measurement QTL GWAS647946 (human)1e-17reticulocyte measurement206225110562251106Human
406994363GWAS643339_Hreticulocyte count QTL GWAS643339 (human)1e-16reticulocyte count206225110562251106Human
597308001GWAS1404075_Hbrain measurement QTL GWAS1404075 (human)6e-10brain measurement206224612462246125Human
617121844GWAS2139343_Hreticulocyte amount QTL GWAS2139343 (human)7e-18reticulocyte amount206225110562251106Human


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF392447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF507780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA301911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA913312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000313733   ⟹   ENSP00000316649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,521 - 62,296,183 (+)Ensembl
Ensembl Acc Id: ENST00000358053   ⟹   ENSP00000350755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,521 - 62,296,211 (+)Ensembl
Ensembl Acc Id: ENST00000439951   ⟹   ENSP00000397602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,485 - 62,296,213 (+)Ensembl
Ensembl Acc Id: ENST00000448156   ⟹   ENSP00000415751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,273,363 - 62,280,221 (+)Ensembl
Ensembl Acc Id: ENST00000471817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,291,562 - 62,294,114 (+)Ensembl
Ensembl Acc Id: ENST00000615516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,231,922 - 62,236,299 (+)Ensembl
Ensembl Acc Id: ENST00000618198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,273,309 - 62,282,093 (+)Ensembl
Ensembl Acc Id: ENST00000618509   ⟹   ENSP00000479702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,234,978 - 62,260,011 (+)Ensembl
Ensembl Acc Id: ENST00000620616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,278,276 - 62,282,092 (+)Ensembl
Ensembl Acc Id: ENST00000621075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,279,114 - 62,286,449 (+)Ensembl
Ensembl Acc Id: ENST00000622332   ⟹   ENSP00000478158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,236,918 - 62,279,205 (+)Ensembl
Ensembl Acc Id: ENST00000642516   ⟹   ENSP00000494756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,549 - 62,294,860 (+)Ensembl
Ensembl Acc Id: ENST00000642714   ⟹   ENSP00000493570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,260,087 - 62,294,865 (+)Ensembl
Ensembl Acc Id: ENST00000642932   ⟹   ENSP00000495393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,542 - 62,294,865 (+)Ensembl
Ensembl Acc Id: ENST00000642957   ⟹   ENSP00000495661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,521 - 62,273,406 (+)Ensembl
Ensembl Acc Id: ENST00000643174   ⟹   ENSP00000493721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,553 - 62,296,203 (+)Ensembl
Ensembl Acc Id: ENST00000643412   ⟹   ENSP00000494549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,564 - 62,294,851 (+)Ensembl
Ensembl Acc Id: ENST00000643981   ⟹   ENSP00000495379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,255,153 - 62,294,870 (+)Ensembl
Ensembl Acc Id: ENST00000644189   ⟹   ENSP00000495359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,949 - 62,282,091 (+)Ensembl
Ensembl Acc Id: ENST00000644535   ⟹   ENSP00000495676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,505 - 62,295,950 (+)Ensembl
Ensembl Acc Id: ENST00000644702   ⟹   ENSP00000494264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,590 - 62,294,856 (+)Ensembl
Ensembl Acc Id: ENST00000644775   ⟹   ENSP00000495955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,553 - 62,294,865 (+)Ensembl
Ensembl Acc Id: ENST00000645426   ⟹   ENSP00000495812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,574 - 62,296,158 (+)Ensembl
Ensembl Acc Id: ENST00000645442   ⟹   ENSP00000494921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,561 - 62,294,865 (+)Ensembl
Ensembl Acc Id: ENST00000645520   ⟹   ENSP00000495166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,524 - 62,294,201 (+)Ensembl
Ensembl Acc Id: ENST00000645594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,564 - 62,259,222 (+)Ensembl
Ensembl Acc Id: ENST00000646834   ⟹   ENSP00000494692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,564 - 62,294,860 (+)Ensembl
Ensembl Acc Id: ENST00000646968   ⟹   ENSP00000495611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,238,564 - 62,294,873 (+)Ensembl
RefSeq Acc Id: NM_001278649   ⟹   NP_001265578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,238,521 - 62,296,183 (+)NCBI
T2T-CHM13v2.02064,029,614 - 64,087,136 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363878   ⟹   NP_001350807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,238,521 - 62,296,183 (+)NCBI
T2T-CHM13v2.02064,029,614 - 64,087,136 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014835   ⟹   NP_055650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,238,521 - 62,296,183 (+)NCBI
T2T-CHM13v2.02064,029,614 - 64,087,136 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144498   ⟹   NP_653081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,238,521 - 62,296,183 (+)NCBI
T2T-CHM13v2.02064,029,614 - 64,087,136 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001350807   ⟸   NM_001363878
- Peptide Label: isoform 4
- UniProtKB: A0A2R8YDU7 (UniProtKB/TrEMBL),   A0A2R8YD49 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_055650   ⟸   NM_014835
- Peptide Label: isoform 1
- UniProtKB: B2RDK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265578   ⟸   NM_001278649
- Peptide Label: isoform 3
- UniProtKB: B4DKJ8 (UniProtKB/TrEMBL),   E7ET92 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_653081   ⟸   NM_144498
- Peptide Label: isoform 2
- UniProtKB: Q9BZB1 (UniProtKB/Swiss-Prot),   Q6IBT0 (UniProtKB/Swiss-Prot),   A8K736 (UniProtKB/Swiss-Prot),   Q9Y4B8 (UniProtKB/Swiss-Prot),   Q9H1P3 (UniProtKB/Swiss-Prot),   B2RDK3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000397602   ⟸   ENST00000439951
Ensembl Acc Id: ENSP00000478158   ⟸   ENST00000622332
Ensembl Acc Id: ENSP00000316649   ⟸   ENST00000313733
Ensembl Acc Id: ENSP00000495393   ⟸   ENST00000642932
Ensembl Acc Id: ENSP00000493570   ⟸   ENST00000642714
Ensembl Acc Id: ENSP00000494756   ⟸   ENST00000642516
Ensembl Acc Id: ENSP00000495661   ⟸   ENST00000642957
Ensembl Acc Id: ENSP00000493721   ⟸   ENST00000643174
Ensembl Acc Id: ENSP00000479702   ⟸   ENST00000618509
Ensembl Acc Id: ENSP00000494549   ⟸   ENST00000643412
Ensembl Acc Id: ENSP00000495379   ⟸   ENST00000643981
Ensembl Acc Id: ENSP00000495676   ⟸   ENST00000644535
Ensembl Acc Id: ENSP00000415751   ⟸   ENST00000448156
Ensembl Acc Id: ENSP00000494264   ⟸   ENST00000644702
Ensembl Acc Id: ENSP00000495955   ⟸   ENST00000644775
Ensembl Acc Id: ENSP00000495359   ⟸   ENST00000644189
Ensembl Acc Id: ENSP00000495166   ⟸   ENST00000645520
Ensembl Acc Id: ENSP00000494921   ⟸   ENST00000645442
Ensembl Acc Id: ENSP00000495812   ⟸   ENST00000645426
Ensembl Acc Id: ENSP00000495611   ⟸   ENST00000646968
Ensembl Acc Id: ENSP00000494692   ⟸   ENST00000646834
Ensembl Acc Id: ENSP00000350755   ⟸   ENST00000358053

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H1P3-F1-model_v2 AlphaFold Q9H1P3 1-480 view protein structure

Promoters
RGD ID:13602314
Promoter ID:EPDNEW_H27341
Type:initiation region
Name:OSBPL2_1
Description:oxysterol binding protein like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,238,521 - 62,238,581EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC OSBPL2 COSMIC
Ensembl Genes ENSG00000130703 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000313733 ENTREZGENE
  ENST00000313733.9 UniProtKB/Swiss-Prot
  ENST00000358053 ENTREZGENE
  ENST00000358053.3 UniProtKB/Swiss-Prot
  ENST00000643412.1 UniProtKB/Swiss-Prot
  ENST00000643981.1 UniProtKB/Swiss-Prot
  ENST00000645442 ENTREZGENE
  ENST00000645520 ENTREZGENE
Gene3D-CATH 2.40.160.120 UniProtKB/Swiss-Prot
  3.30.70.3490 UniProtKB/Swiss-Prot
GTEx ENSG00000130703 GTEx
HGNC ID HGNC:15761 ENTREZGENE
Human Proteome Map OSBPL2 Human Proteome Map
InterPro OSBP_sf UniProtKB/Swiss-Prot
  Oxysterol-bd UniProtKB/Swiss-Prot
  Oxysterol-bd_CS UniProtKB/Swiss-Prot
KEGG Report hsa:9885 UniProtKB/Swiss-Prot
NCBI Gene OSBPL2 ENTREZGENE
OMIM 606731 OMIM
PANTHER OXYSTEROL-BINDING PROTEIN-RELATED PROTEIN 2 UniProtKB/Swiss-Prot
  PTHR10972 UniProtKB/Swiss-Prot
Pfam Oxysterol_BP UniProtKB/Swiss-Prot
PharmGKB PA32827 PharmGKB
PROSITE OSBP UniProtKB/Swiss-Prot
Superfamily-SCOP SSF144000 UniProtKB/Swiss-Prot
UniProt A0A087WTV1_HUMAN UniProtKB/TrEMBL
  A0A087WVV0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y362_HUMAN UniProtKB/TrEMBL
  A0A2R8Y429_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5B9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5R1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y690_HUMAN UniProtKB/TrEMBL
  A0A2R8Y703_HUMAN UniProtKB/TrEMBL
  A0A2R8YD49 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YDU7 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YEX0_HUMAN UniProtKB/TrEMBL
  A0A2R8YFT0_HUMAN UniProtKB/TrEMBL
  A0A2R8YG53_HUMAN UniProtKB/TrEMBL
  A0A2R8YG59_HUMAN UniProtKB/TrEMBL
  A0A2R8YG95_HUMAN UniProtKB/TrEMBL
  A8K736 ENTREZGENE
  B2RDK3 ENTREZGENE, UniProtKB/TrEMBL
  B4DKJ8 ENTREZGENE, UniProtKB/TrEMBL
  E7ET92 ENTREZGENE, UniProtKB/TrEMBL
  H0Y7X4_HUMAN UniProtKB/TrEMBL
  OSBL2_HUMAN UniProtKB/Swiss-Prot
  Q6IBT0 ENTREZGENE
  Q9BZB1 ENTREZGENE
  Q9H1P3 ENTREZGENE
  Q9Y4B8 ENTREZGENE
UniProt Secondary A8K736 UniProtKB/Swiss-Prot
  Q6IBT0 UniProtKB/Swiss-Prot
  Q9BZB1 UniProtKB/Swiss-Prot
  Q9Y4B8 UniProtKB/Swiss-Prot