LOXL3 (lysyl oxidase like 3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LOXL3 (lysyl oxidase like 3) Homo sapiens
Analyze
Symbol: LOXL3
Name: lysyl oxidase like 3
RGD ID: 1322239
HGNC Page HGNC:13869
Description: Enables protein-lysine 6-oxidase activity. Involved in several processes, including epithelial to mesenchymal transition; negative regulation of T-helper 17 cell lineage commitment; and peptidyl-lysine oxidation. Located in cytoplasm; extracellular region; and nucleus. Implicated in myopia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LOXL; lysyl oxidase homolog 3; lysyl oxidase-like 3; lysyl oxidase-like protein 3; MYP28
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38274,532,258 - 74,555,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl274,532,258 - 74,555,690 (-)EnsemblGRCh38hg38GRCh38
GRCh37274,759,385 - 74,781,069 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36274,613,454 - 74,634,570 (-)NCBINCBI36Build 36hg18NCBI36
Build 34274,671,600 - 74,692,717NCBI
Celera274,591,054 - 74,612,170 (-)NCBICelera
Cytogenetic Map2p13.1NCBI
HuRef274,496,207 - 74,517,323 (-)NCBIHuRef
CHM1_1274,689,342 - 74,710,457 (-)NCBICHM1_1
T2T-CHM13v2.0274,540,824 - 74,564,305 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11284725   PMID:11334717   PMID:11386757   PMID:11642359   PMID:12477932   PMID:12686136   PMID:16096638   PMID:16169070   PMID:16344560   PMID:17018530   PMID:17287949   PMID:19015874  
PMID:19724858   PMID:21740577   PMID:21873635   PMID:23357697   PMID:25663169   PMID:26957899   PMID:28065600   PMID:28514442   PMID:29229995   PMID:29758265   PMID:29802726   PMID:30045039  
PMID:30362103   PMID:31340433   PMID:33660365   PMID:33961781   PMID:34360836   PMID:34448895   PMID:35013218   PMID:35035830   PMID:35841383   PMID:36917121  


Genomics

Comparative Map Data
LOXL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38274,532,258 - 74,555,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl274,532,258 - 74,555,690 (-)EnsemblGRCh38hg38GRCh38
GRCh37274,759,385 - 74,781,069 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36274,613,454 - 74,634,570 (-)NCBINCBI36Build 36hg18NCBI36
Build 34274,671,600 - 74,692,717NCBI
Celera274,591,054 - 74,612,170 (-)NCBICelera
Cytogenetic Map2p13.1NCBI
HuRef274,496,207 - 74,517,323 (-)NCBIHuRef
CHM1_1274,689,342 - 74,710,457 (-)NCBICHM1_1
T2T-CHM13v2.0274,540,824 - 74,564,305 (-)NCBIT2T-CHM13v2.0
Loxl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39683,011,186 - 83,029,547 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl683,011,154 - 83,029,543 (+)EnsemblGRCm39 Ensembl
GRCm38683,034,205 - 83,052,566 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl683,034,173 - 83,052,562 (+)EnsemblGRCm38mm10GRCm38
MGSCv37682,984,218 - 83,002,558 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36682,999,882 - 83,018,222 (+)NCBIMGSCv36mm8
Celera685,015,734 - 85,035,153 (+)NCBICelera
Cytogenetic Map6C3NCBI
cM Map635.94NCBI
Loxl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84117,098,358 - 117,114,673 (+)NCBIGRCr8
mRatBN7.24115,540,640 - 115,556,958 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4115,540,685 - 115,557,466 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4121,017,222 - 121,033,539 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04116,792,423 - 116,808,736 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04115,406,990 - 115,423,299 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04113,866,782 - 113,883,713 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4113,866,804 - 113,883,477 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04178,552,500 - 178,568,813 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44117,245,933 - 117,262,248 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14117,491,707 - 117,506,378 (+)NCBI
Celera4104,535,320 - 104,551,634 (+)NCBICelera
Cytogenetic Map4q34NCBI
Loxl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542411,236,836 - 11,259,570 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542411,236,415 - 11,255,801 (+)NCBIChiLan1.0ChiLan1.0
LOXL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21251,833,505 - 51,856,127 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A51,836,098 - 51,858,879 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A74,598,870 - 74,622,502 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A76,105,957 - 76,128,495 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A76,105,957 - 76,128,495 (-)Ensemblpanpan1.1panPan2
LOXL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11748,590,996 - 48,610,264 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1748,591,768 - 48,610,392 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1748,232,758 - 48,252,169 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01749,450,304 - 49,469,724 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1749,450,333 - 49,469,843 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11748,467,472 - 48,486,874 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01748,534,207 - 48,553,616 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01749,091,871 - 49,111,294 (+)NCBIUU_Cfam_GSD_1.0
Loxl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244062929,971,949 - 9,992,107 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936556745,798 - 765,918 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936556745,798 - 765,926 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOXL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl368,498,189 - 68,517,445 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1368,498,114 - 68,516,829 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2371,670,347 - 71,688,501 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOXL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11432,722,588 - 32,745,480 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1432,725,112 - 32,745,004 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604579,425,804 - 79,448,819 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Loxl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474928,960,593 - 28,980,428 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474928,959,682 - 28,980,428 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LOXL3
463 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001381.3(DOK1):c.116G>A (p.Arg39Gln) single nucleotide variant Malignant melanoma [RCV000065684] Chr2:74555209 [GRCh38]
Chr2:74782336 [GRCh37]
Chr2:74635844 [NCBI36]
Chr2:2p13.1
not provided
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000004589]|not provided [RCV000891932] Chr2:74532698 [GRCh38]
Chr2:74759825 [GRCh37]
Chr2:2p13.1
pathogenic|risk factor|benign|likely benign
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
NM_032603.5(LOXL3):c.79C>G (p.Pro27Ala) single nucleotide variant not provided [RCV000889446]|not specified [RCV000244293] Chr2:74552556 [GRCh38]
Chr2:74779683 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_013247.5(HTRA2):c.*249G>C single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000269361] Chr2:74533234 [GRCh38]
Chr2:74760361 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1124G>A (p.Arg375His) single nucleotide variant not provided [RCV002058377]|not specified [RCV000247543] Chr2:74536120 [GRCh38]
Chr2:74763247 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.1843A>T (p.Ile615Phe) single nucleotide variant not provided [RCV001683127]|not specified [RCV000252508] Chr2:74534412 [GRCh38]
Chr2:74761539 [GRCh37]
Chr2:2p13.1
benign
NM_013247.4(HTRA2):c.*531A>G single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000376027]|not provided [RCV004709945] Chr2:74533516 [GRCh38]
Chr2:74760643 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000303598]|not provided [RCV001432943] Chr2:74532634 [GRCh38]
Chr2:74759761 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_013247.5(HTRA2):c.*94C>T single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000382529]|not provided [RCV001534992] Chr2:74533079 [GRCh38]
Chr2:74760206 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_013247.4(HTRA2):c.*384C>A single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000388231]|not provided [RCV004708679] Chr2:74533369 [GRCh38]
Chr2:74760496 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_013247.4(HTRA2):c.*443T>A single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000294376] Chr2:74533428 [GRCh38]
Chr2:74760555 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_013247.4(HTRA2):c.*537G>A single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000281556] Chr2:74533522 [GRCh38]
Chr2:74760649 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.*291G>A single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000333698] Chr2:74533276 [GRCh38]
Chr2:74760403 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.4(HTRA2):c.*513T>A single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000349274] Chr2:74533498 [GRCh38]
Chr2:74760625 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile) single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV000328008]|not provided [RCV001861156] Chr2:74532954 [GRCh38]
Chr2:74760081 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.*265C>T single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV001138539] Chr2:74533250 [GRCh38]
Chr2:74760377 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln) single nucleotide variant 3-methylglutaconic aciduria type 8 [RCV000412669]|not provided [RCV002523896] Chr2:74532714 [GRCh38]
Chr2:74759841 [GRCh37]
Chr2:2p13.1
pathogenic
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs) deletion 3-methylglutaconic aciduria type 8 [RCV000412533] Chr2:74532920..74532924 [GRCh38]
Chr2:74760047..74760051 [GRCh37]
Chr2:2p13.1
pathogenic
GRCh37/hg19 2p13.1(chr2:74707255-74950792)x3 copy number gain See cases [RCV000448878] Chr2:74707255..74950792 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
NM_032603.5(LOXL3):c.25T>C (p.Trp9Arg) single nucleotide variant not specified [RCV004305747] Chr2:74552610 [GRCh38]
Chr2:74779737 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1210C>T (p.Arg404Trp) single nucleotide variant Inborn genetic diseases [RCV002530850]|not provided [RCV000585581] Chr2:74532713 [GRCh38]
Chr2:74759840 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3 copy number gain See cases [RCV000136651] Chr2:74432069..75181627 [GRCh38]
Chr2:74659196..75408753 [GRCh37]
Chr2:74512704..75262261 [NCBI36]
Chr2:2p13.1-12
likely benign|uncertain significance
GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1 copy number loss See cases [RCV000143456] Chr2:74375779..75517520 [GRCh38]
Chr2:74602906..75744646 [GRCh37]
Chr2:74456414..75598154 [NCBI36]
Chr2:2p13.1-12
likely pathogenic
NM_032603.5(LOXL3):c.2027G>A (p.Cys676Tyr) single nucleotide variant not provided [RCV000169743] Chr2:74534149 [GRCh38]
Chr2:74761276 [GRCh37]
Chr2:2p13.1
uncertain significance|not provided
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=) single nucleotide variant HTRA2-related disorder [RCV003950166]|Parkinson disease 13, autosomal dominant, susceptibility to [RCV000358425]|not provided [RCV000910997] Chr2:74532658 [GRCh38]
Chr2:74759785 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_032603.5(LOXL3):c.1655T>C (p.Leu552Ser) single nucleotide variant not provided [RCV000513664] Chr2:74534699 [GRCh38]
Chr2:74761826 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_032603.5(LOXL3):c.292G>A (p.Ala98Thr) single nucleotide variant not provided [RCV001998306] Chr2:74552343 [GRCh38]
Chr2:74779470 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) deletion LOXL3-related disorder [RCV003908074]|Stickler syndrome [RCV001199702]|not provided [RCV000762274] Chr2:74535672..74535674 [GRCh38]
Chr2:74762799..74762801 [GRCh37]
Chr2:2p13.1
pathogenic|likely benign|uncertain significance
NM_032603.5(LOXL3):c.1061G>A (p.Arg354Gln) single nucleotide variant not provided [RCV000966801] Chr2:74536323 [GRCh38]
Chr2:74763450 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.594G>C (p.Ser198=) single nucleotide variant not provided [RCV000982200] Chr2:74549467 [GRCh38]
Chr2:74776594 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1278T>C (p.Asp426=) single nucleotide variant not provided [RCV000901895] Chr2:74532886 [GRCh38]
Chr2:74760013 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.317G>T (p.Arg106Leu) single nucleotide variant not provided [RCV000958565] Chr2:74550345 [GRCh38]
Chr2:74777472 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.459G>A (p.Ser153=) single nucleotide variant not provided [RCV001993056] Chr2:74550203 [GRCh38]
Chr2:74777330 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_032603.5(LOXL3):c.1793G>A (p.Arg598His) single nucleotide variant not provided [RCV003106529] Chr2:74534561 [GRCh38]
Chr2:74761688 [GRCh37]
Chr2:2p13.1
uncertain significance
NC_000002.11:g.(?_71004499)_(74779761_?)del deletion Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] Chr2:71004499..74779761 [GRCh37]
Chr2:2p13.3-13.1
pathogenic|no classifications from unflagged records
NM_032603.5(LOXL3):c.17T>C (p.Val6Ala) single nucleotide variant not specified [RCV004302895] Chr2:74552618 [GRCh38]
Chr2:74779745 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.917G>A (p.Arg306His) single nucleotide variant LOXL3-related disorder [RCV003895757]|not provided [RCV000950636] Chr2:74536467 [GRCh38]
Chr2:74763594 [GRCh37]
Chr2:2p13.1
benign
NM_013247.5(HTRA2):c.1116-23T>C single nucleotide variant not provided [RCV001720824] Chr2:74532596 [GRCh38]
Chr2:74759723 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.340T>G (p.Cys114Gly) single nucleotide variant not provided [RCV003231694] Chr2:74550322 [GRCh38]
Chr2:74777449 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.-12-140dup duplication not provided [RCV001657678] Chr2:74552785..74552786 [GRCh38]
Chr2:74779912..74779913 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.1113G>C (p.Leu371=) single nucleotide variant not provided [RCV001637890] Chr2:74536131 [GRCh38]
Chr2:74763258 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.1939+21A>G single nucleotide variant not provided [RCV001638432] Chr2:74534295 [GRCh38]
Chr2:74761422 [GRCh37]
Chr2:2p13.1
benign
NM_013247.5(HTRA2):c.*267C>T single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV001141102] Chr2:74533252 [GRCh38]
Chr2:74760379 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p13.1-12(chr2:74780969-75444113)x3 copy number gain not provided [RCV001260151] Chr2:74780969..75444113 [GRCh37]
Chr2:2p13.1-12
uncertain significance
NM_013247.5(HTRA2):c.1224G>C (p.Arg408=) single nucleotide variant not provided [RCV001435300] Chr2:74532832 [GRCh38]
Chr2:74759959 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1606G>C (p.Ala536Pro) single nucleotide variant not provided [RCV002001712]|not specified [RCV004935238] Chr2:74534748 [GRCh38]
Chr2:74761875 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.692+19C>A single nucleotide variant not provided [RCV001995398] Chr2:74549350 [GRCh38]
Chr2:74776477 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_013247.5(HTRA2):c.1365G>A (p.Glu455=) single nucleotide variant not provided [RCV001907995] Chr2:74532973 [GRCh38]
Chr2:74760100 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1270G>A (p.Ala424Thr) single nucleotide variant not provided [RCV001864409] Chr2:74532878 [GRCh38]
Chr2:74760005 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.937G>A (p.Ala313Thr) single nucleotide variant not provided [RCV002025572] Chr2:74536447 [GRCh38]
Chr2:74763574 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1051G>A (p.Gly351Arg) single nucleotide variant not provided [RCV001950581] Chr2:74536333 [GRCh38]
Chr2:74763460 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1549C>T (p.Arg517Cys) single nucleotide variant not provided [RCV001949879] Chr2:74535322 [GRCh38]
Chr2:74762449 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1649A>G (p.His550Arg) single nucleotide variant not provided [RCV001949113] Chr2:74534705 [GRCh38]
Chr2:74761832 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2126A>G (p.Asn709Ser) single nucleotide variant not provided [RCV002045018] Chr2:74533944 [GRCh38]
Chr2:74761071 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1237G>A (p.Ala413Thr) single nucleotide variant not provided [RCV001909024] Chr2:74536007 [GRCh38]
Chr2:74763134 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1724G>A (p.Arg575Gln) single nucleotide variant not provided [RCV002008656] Chr2:74534630 [GRCh38]
Chr2:74761757 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.745G>A (p.Val249Met) single nucleotide variant not provided [RCV001913492] Chr2:74536876 [GRCh38]
Chr2:74764003 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.5G>A (p.Arg2Gln) single nucleotide variant not provided [RCV002040907]|not specified [RCV004046870] Chr2:74552630 [GRCh38]
Chr2:74779757 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1138C>T (p.Arg380Ter) single nucleotide variant 3-methylglutaconic aciduria type 8 [RCV004799677]|not provided [RCV001946721] Chr2:74532641 [GRCh38]
Chr2:74759768 [GRCh37]
Chr2:2p13.1
pathogenic
NM_032603.5(LOXL3):c.127C>T (p.Arg43Trp) single nucleotide variant not provided [RCV002032280]|not specified [RCV004044879] Chr2:74552508 [GRCh38]
Chr2:74779635 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.677A>G (p.Asn226Ser) single nucleotide variant not provided [RCV002038622] Chr2:74549384 [GRCh38]
Chr2:74776511 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1502del (p.Gln501fs) deletion not provided [RCV002004526] Chr2:74535369 [GRCh38]
Chr2:74762496 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1036C>T (p.Arg346Trp) single nucleotide variant Myopia 28, autosomal recessive [RCV004798931]|not provided [RCV001843704] Chr2:74536348 [GRCh38]
Chr2:74763475 [GRCh37]
Chr2:2p13.1
likely pathogenic|uncertain significance
NM_032603.5(LOXL3):c.395G>A (p.Ser132Asn) single nucleotide variant not provided [RCV002022482] Chr2:74550267 [GRCh38]
Chr2:74777394 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1580C>T (p.Thr527Ile) single nucleotide variant not provided [RCV001968549] Chr2:74534774 [GRCh38]
Chr2:74761901 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.409G>A (p.Asp137Asn) single nucleotide variant not provided [RCV002037086] Chr2:74550253 [GRCh38]
Chr2:74777380 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.931G>T (p.Gly311Cys) single nucleotide variant not provided [RCV002042263] Chr2:74536453 [GRCh38]
Chr2:74763580 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1598T>C (p.Leu533Pro) single nucleotide variant not provided [RCV001893265] Chr2:74534756 [GRCh38]
Chr2:74761883 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.40C>A (p.Leu14Met) single nucleotide variant not provided [RCV002048491]|not specified [RCV004046836] Chr2:74552595 [GRCh38]
Chr2:74779722 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1450G>A (p.Glu484Lys) single nucleotide variant not provided [RCV001872995] Chr2:74535421 [GRCh38]
Chr2:74762548 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.394A>G (p.Ser132Gly) single nucleotide variant not provided [RCV002016579] Chr2:74550268 [GRCh38]
Chr2:74777395 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.752C>T (p.Thr251Met) single nucleotide variant not provided [RCV001863253] Chr2:74536869 [GRCh38]
Chr2:74763996 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.65C>G (p.Ser22Trp) single nucleotide variant not provided [RCV002025590] Chr2:74552570 [GRCh38]
Chr2:74779697 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.824dup (p.Ala277fs) duplication Myopia 28, autosomal recessive [RCV001843705]|not provided [RCV002034719] Chr2:74536796..74536797 [GRCh38]
Chr2:74763923..74763924 [GRCh37]
Chr2:2p13.1
pathogenic|uncertain significance
NM_032603.5(LOXL3):c.934G>A (p.Gly312Ser) single nucleotide variant not provided [RCV001913061] Chr2:74536450 [GRCh38]
Chr2:74763577 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1859A>G (p.Asp620Gly) single nucleotide variant not provided [RCV002007025]|not specified [RCV004046189] Chr2:74534396 [GRCh38]
Chr2:74761523 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1164C>A (p.His388Gln) single nucleotide variant not provided [RCV002039680] Chr2:74536080 [GRCh38]
Chr2:74763207 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1694C>A (p.Ala565Asp) single nucleotide variant not provided [RCV001894797] Chr2:74534660 [GRCh38]
Chr2:74761787 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.594del (p.Gln199fs) deletion Myopia 28, autosomal recessive [RCV001843703] Chr2:74549467 [GRCh38]
Chr2:74776594 [GRCh37]
Chr2:2p13.1
pathogenic
NM_032603.5(LOXL3):c.39dup (p.Leu14fs) duplication Myopia 28, autosomal recessive [RCV001843702]|not provided [RCV002543279] Chr2:74552595..74552596 [GRCh38]
Chr2:74779722..74779723 [GRCh37]
Chr2:2p13.1
pathogenic|uncertain significance
NM_032603.5(LOXL3):c.2170G>A (p.Val724Met) single nucleotide variant not provided [RCV001926178] Chr2:74533900 [GRCh38]
Chr2:74761027 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.542C>T (p.Pro181Leu) single nucleotide variant LOXL3-related disorder [RCV003968648]|not provided [RCV001984933] Chr2:74549519 [GRCh38]
Chr2:74776646 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.754del (p.Glu252fs) deletion not provided [RCV001944396] Chr2:74536867 [GRCh38]
Chr2:74763994 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.862G>A (p.Ala288Thr) single nucleotide variant not provided [RCV002034975] Chr2:74536759 [GRCh38]
Chr2:74763886 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1967A>C (p.Asn656Thr) single nucleotide variant not provided [RCV001944742] Chr2:74534209 [GRCh38]
Chr2:74761336 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1276C>A (p.His426Asn) single nucleotide variant not provided [RCV001944851] Chr2:74535728 [GRCh38]
Chr2:74762855 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2134A>C (p.Lys712Gln) single nucleotide variant not provided [RCV001994080] Chr2:74533936 [GRCh38]
Chr2:74761063 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1294C>T (p.Arg432Ter) single nucleotide variant Parkinson disease 13, autosomal dominant, susceptibility to [RCV005023366]|not provided [RCV001905518] Chr2:74532902 [GRCh38]
Chr2:74760029 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2045C>T (p.Thr682Met) single nucleotide variant not provided [RCV001997447] Chr2:74534131 [GRCh38]
Chr2:74761258 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1037G>A (p.Arg346Gln) single nucleotide variant not provided [RCV001924510]|not specified [RCV004041279] Chr2:74536347 [GRCh38]
Chr2:74763474 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1697G>A (p.Arg566His) single nucleotide variant not provided [RCV001941355] Chr2:74534657 [GRCh38]
Chr2:74761784 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.916C>T (p.Arg306Cys) single nucleotide variant not provided [RCV001923537] Chr2:74536468 [GRCh38]
Chr2:74763595 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1982G>C (p.Gly661Ala) single nucleotide variant not provided [RCV002015371] Chr2:74534194 [GRCh38]
Chr2:74761321 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.936C>T (p.Gly312=) single nucleotide variant not provided [RCV002017590] Chr2:74536448 [GRCh38]
Chr2:74763575 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_032603.5(LOXL3):c.310A>G (p.Thr104Ala) single nucleotide variant not provided [RCV001892949] Chr2:74552325 [GRCh38]
Chr2:74779452 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1800_1802del (p.Trp601del) deletion not provided [RCV001920353] Chr2:74534552..74534554 [GRCh38]
Chr2:74761679..74761681 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.172G>A (p.Val58Met) single nucleotide variant not provided [RCV001927672]|not specified [RCV004042611] Chr2:74552463 [GRCh38]
Chr2:74779590 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1865T>C (p.Leu622Pro) single nucleotide variant not provided [RCV002010663] Chr2:74534390 [GRCh38]
Chr2:74761517 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.128G>A (p.Arg43Gln) single nucleotide variant not provided [RCV001984831]|not specified [RCV004927764] Chr2:74552507 [GRCh38]
Chr2:74779634 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1000C>T (p.Arg334Cys) single nucleotide variant not provided [RCV001881119] Chr2:74536384 [GRCh38]
Chr2:74763511 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.547C>A (p.Pro183Thr) single nucleotide variant not provided [RCV001958474]|not specified [RCV004043763] Chr2:74549514 [GRCh38]
Chr2:74776641 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1668G>A (p.Ala556=) single nucleotide variant not provided [RCV001932770] Chr2:74534686 [GRCh38]
Chr2:74761813 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_032603.5(LOXL3):c.1194T>C (p.His398=) single nucleotide variant not provided [RCV001956064] Chr2:74536050 [GRCh38]
Chr2:74763177 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.266C>T (p.Thr89Ile) single nucleotide variant not provided [RCV001908378] Chr2:74552369 [GRCh38]
Chr2:74779496 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.790C>T (p.Arg264Cys) single nucleotide variant not provided [RCV001990352]|not specified [RCV004044566] Chr2:74536831 [GRCh38]
Chr2:74763958 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.317G>A (p.Arg106His) single nucleotide variant LOXL3-related disorder [RCV004746488]|not provided [RCV001917462] Chr2:74550345 [GRCh38]
Chr2:74777472 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1407C>T (p.His469=) single nucleotide variant not provided [RCV001989369] Chr2:74535597 [GRCh38]
Chr2:74762724 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1940A>T (p.Asp647Val) single nucleotide variant not provided [RCV002046409] Chr2:74534236 [GRCh38]
Chr2:74761363 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1472G>A (p.Arg491His) single nucleotide variant not provided [RCV001919012] Chr2:74535399 [GRCh38]
Chr2:74762526 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.266_267del (p.Thr89fs) microsatellite not provided [RCV001923733] Chr2:74552368..74552369 [GRCh38]
Chr2:74779495..74779496 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.404C>T (p.Thr135Met) single nucleotide variant not provided [RCV001982383]|not specified [RCV004935231] Chr2:74550258 [GRCh38]
Chr2:74777385 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1093G>C (p.Gly365Arg) single nucleotide variant not provided [RCV001885013] Chr2:74536291 [GRCh38]
Chr2:74763418 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1102G>A (p.Ala368Thr) single nucleotide variant not provided [RCV002010522] Chr2:74536142 [GRCh38]
Chr2:74763269 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.379C>T (p.Arg127Trp) single nucleotide variant not provided [RCV001959585] Chr2:74550283 [GRCh38]
Chr2:74777410 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1001G>A (p.Arg334His) single nucleotide variant not provided [RCV001981326]|not specified [RCV004935230] Chr2:74536383 [GRCh38]
Chr2:74763510 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.896C>T (p.Ser299Leu) single nucleotide variant not provided [RCV001867650] Chr2:74536725 [GRCh38]
Chr2:74763852 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.760C>T (p.His254Tyr) single nucleotide variant not provided [RCV001995090] Chr2:74536861 [GRCh38]
Chr2:74763988 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV001911662] Chr2:74550220 [GRCh38]
Chr2:74777347 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1229G>C (p.Gly410Ala) single nucleotide variant not provided [RCV001866663] Chr2:74532837 [GRCh38]
Chr2:74759964 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1214G>A (p.Arg405Gln) single nucleotide variant not provided [RCV001878247] Chr2:74536030 [GRCh38]
Chr2:74763157 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1100G>A (p.Gly367Asp) single nucleotide variant not provided [RCV001870008] Chr2:74536144 [GRCh38]
Chr2:74763271 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1578G>C (p.Glu526Asp) single nucleotide variant not provided [RCV001881938]|not specified [RCV004039173] Chr2:74535293 [GRCh38]
Chr2:74762420 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1015C>T (p.His339Tyr) single nucleotide variant not provided [RCV001976347] Chr2:74536369 [GRCh38]
Chr2:74763496 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.158C>T (p.Pro53Leu) single nucleotide variant not provided [RCV001921937] Chr2:74552477 [GRCh38]
Chr2:74779604 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.442C>A (p.Arg148Ser) single nucleotide variant not provided [RCV001915988] Chr2:74550220 [GRCh38]
Chr2:74777347 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1285G>A (p.Glu429Lys) single nucleotide variant not provided [RCV001922186] Chr2:74532893 [GRCh38]
Chr2:74760020 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2186T>C (p.Ile729Thr) single nucleotide variant not provided [RCV001978437]|not specified [RCV004045307] Chr2:74533884 [GRCh38]
Chr2:74761011 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2011C>G (p.Arg671Gly) single nucleotide variant not provided [RCV001905303] Chr2:74534165 [GRCh38]
Chr2:74761292 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1333C>T (p.Arg445Ter) single nucleotide variant not provided [RCV001884508] Chr2:74532941 [GRCh38]
Chr2:74760068 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2107G>A (p.Glu703Lys) single nucleotide variant not provided [RCV002035046] Chr2:74533963 [GRCh38]
Chr2:74761090 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.339C>A (p.Ser113Arg) single nucleotide variant not provided [RCV001898693] Chr2:74550323 [GRCh38]
Chr2:74777450 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1232C>A (p.Thr411Asn) single nucleotide variant not provided [RCV001999243] Chr2:74536012 [GRCh38]
Chr2:74763139 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1640G>A (p.Arg547Gln) single nucleotide variant not provided [RCV001939810] Chr2:74534714 [GRCh38]
Chr2:74761841 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.588C>T (p.Gly196=) single nucleotide variant not provided [RCV001901972] Chr2:74549473 [GRCh38]
Chr2:74776600 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1324T>A (p.Trp442Arg) single nucleotide variant not provided [RCV001957717] Chr2:74535680 [GRCh38]
Chr2:74762807 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.501G>C (p.Glu167Asp) single nucleotide variant not provided [RCV001905468] Chr2:74549560 [GRCh38]
Chr2:74776687 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.700G>C (p.Ala234Pro) single nucleotide variant not provided [RCV001935893] Chr2:74536921 [GRCh38]
Chr2:74764048 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.805G>A (p.Ala269Thr) single nucleotide variant not provided [RCV001930618] Chr2:74536816 [GRCh38]
Chr2:74763943 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.77C>G (p.Ser26Cys) single nucleotide variant not provided [RCV001988840] Chr2:74552558 [GRCh38]
Chr2:74779685 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.314-3C>T single nucleotide variant LOXL3-related disorder [RCV003948812]|not provided [RCV001909992] Chr2:74550351 [GRCh38]
Chr2:74777478 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_032603.5(LOXL3):c.586G>A (p.Gly196Ser) single nucleotide variant not provided [RCV001973557] Chr2:74549475 [GRCh38]
Chr2:74776602 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2222T>A (p.Phe741Tyr) single nucleotide variant not provided [RCV002031189]|not specified [RCV004935249] Chr2:74533646 [GRCh38]
Chr2:74760773 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1534A>G (p.Lys512Glu) single nucleotide variant not provided [RCV001978365] Chr2:74535337 [GRCh38]
Chr2:74762464 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.563T>C (p.Leu188Pro) single nucleotide variant not provided [RCV001912649] Chr2:74549498 [GRCh38]
Chr2:74776625 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.314-20C>T single nucleotide variant not provided [RCV002210413] Chr2:74550368 [GRCh38]
Chr2:74777495 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.129G>A (p.Arg43=) single nucleotide variant LOXL3-related disorder [RCV003968821]|not provided [RCV002217334] Chr2:74552506 [GRCh38]
Chr2:74779633 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.216T>C (p.Asp72=) single nucleotide variant not provided [RCV002111637] Chr2:74552419 [GRCh38]
Chr2:74779546 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.897G>A (p.Ser299=) single nucleotide variant not provided [RCV002088208] Chr2:74536724 [GRCh38]
Chr2:74763851 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.314-20C>G single nucleotide variant not provided [RCV002146282] Chr2:74550368 [GRCh38]
Chr2:74777495 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1077C>T (p.Gly359=) single nucleotide variant not provided [RCV002210388] Chr2:74536307 [GRCh38]
Chr2:74763434 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1632C>T (p.Ile544=) single nucleotide variant LOXL3-related disorder [RCV003913683]|not provided [RCV002107841] Chr2:74534722 [GRCh38]
Chr2:74761849 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.684C>T (p.Ala228=) single nucleotide variant LOXL3-related disorder [RCV003968782]|not provided [RCV002211599] Chr2:74549377 [GRCh38]
Chr2:74776504 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1212-4A>G single nucleotide variant not provided [RCV002146809] Chr2:74532816 [GRCh38]
Chr2:74759943 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.126T>C (p.Leu42=) single nucleotide variant not provided [RCV002219719] Chr2:74552509 [GRCh38]
Chr2:74779636 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1211+11G>C single nucleotide variant not provided [RCV002168624] Chr2:74532725 [GRCh38]
Chr2:74759852 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.111C>T (p.Ala37=) single nucleotide variant not provided [RCV002123419] Chr2:74552524 [GRCh38]
Chr2:74779651 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.477+17C>T single nucleotide variant not provided [RCV002124482] Chr2:74550168 [GRCh38]
Chr2:74777295 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.313+18C>T single nucleotide variant not provided [RCV002128172] Chr2:74552304 [GRCh38]
Chr2:74779431 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.171C>T (p.Arg57=) single nucleotide variant not provided [RCV002079792] Chr2:74552464 [GRCh38]
Chr2:74779591 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.87T>G (p.Pro29=) single nucleotide variant not provided [RCV002104406] Chr2:74552548 [GRCh38]
Chr2:74779675 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_032603.5(LOXL3):c.1221C>A (p.Asn407Lys) single nucleotide variant not provided [RCV002185812] Chr2:74536023 [GRCh38]
Chr2:74763150 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.405G>A (p.Thr135=) single nucleotide variant LOXL3-related disorder [RCV003923794]|not provided [RCV002141425] Chr2:74550257 [GRCh38]
Chr2:74777384 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_032603.5(LOXL3):c.693-15C>A single nucleotide variant not provided [RCV002125954] Chr2:74536943 [GRCh38]
Chr2:74764070 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1823+8G>A single nucleotide variant not provided [RCV002107892] Chr2:74534523 [GRCh38]
Chr2:74761650 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1609C>T (p.Leu537=) single nucleotide variant not provided [RCV002093291] Chr2:74534745 [GRCh38]
Chr2:74761872 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.741G>A (p.Ala247=) single nucleotide variant LOXL3-related disorder [RCV003950880]|not provided [RCV002172434] Chr2:74536880 [GRCh38]
Chr2:74764007 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.57G>A (p.Leu19=) single nucleotide variant not provided [RCV002201987] Chr2:74552578 [GRCh38]
Chr2:74779705 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.819G>A (p.Gly273=) single nucleotide variant not provided [RCV002216063] Chr2:74536802 [GRCh38]
Chr2:74763929 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.579T>C (p.Leu193=) single nucleotide variant LOXL3-related disorder [RCV003950869]|not provided [RCV002092710] Chr2:74549482 [GRCh38]
Chr2:74776609 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1120G>C (p.Val374Leu) single nucleotide variant not provided [RCV002112329] Chr2:74536124 [GRCh38]
Chr2:74763251 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1260T>C (p.Ser420=) single nucleotide variant not provided [RCV002152838] Chr2:74535744 [GRCh38]
Chr2:74762871 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.706C>T (p.Arg236Trp) single nucleotide variant not provided [RCV002165344] Chr2:74536915 [GRCh38]
Chr2:74764042 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1026C>T (p.Ser342=) single nucleotide variant not provided [RCV002207495] Chr2:74536358 [GRCh38]
Chr2:74763485 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1579+15G>T single nucleotide variant not provided [RCV002172866] Chr2:74535277 [GRCh38]
Chr2:74762404 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1299A>G (p.Gln433=) single nucleotide variant not provided [RCV002104580] Chr2:74535705 [GRCh38]
Chr2:74762832 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.687C>T (p.Phe229=) single nucleotide variant not provided [RCV002076333] Chr2:74549374 [GRCh38]
Chr2:74776501 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1929G>A (p.Glu643=) single nucleotide variant not provided [RCV002128240] Chr2:74534326 [GRCh38]
Chr2:74761453 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1791G>T (p.Gly597=) single nucleotide variant not provided [RCV002093663] Chr2:74534563 [GRCh38]
Chr2:74761690 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1206C>T (p.Ala402=) single nucleotide variant not provided [RCV002113726] Chr2:74536038 [GRCh38]
Chr2:74763165 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.81G>A (p.Pro27=) single nucleotide variant not provided [RCV002141413] Chr2:74552554 [GRCh38]
Chr2:74779681 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2064C>T (p.Asn688=) single nucleotide variant not provided [RCV002119303] Chr2:74534112 [GRCh38]
Chr2:74761239 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.1094-19C>T single nucleotide variant not provided [RCV002202225] Chr2:74536169 [GRCh38]
Chr2:74763296 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.693-11T>C single nucleotide variant not provided [RCV002200785] Chr2:74536939 [GRCh38]
Chr2:74764066 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1123C>T (p.Arg375Cys) single nucleotide variant not provided [RCV002218604] Chr2:74536121 [GRCh38]
Chr2:74763248 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.1812C>T (p.His604=) single nucleotide variant not provided [RCV002141174] Chr2:74534542 [GRCh38]
Chr2:74761669 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1209G>A (p.Gly403=) single nucleotide variant not provided [RCV002081490] Chr2:74536035 [GRCh38]
Chr2:74763162 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1212-15C>A single nucleotide variant not provided [RCV002121711] Chr2:74532805 [GRCh38]
Chr2:74759932 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1542A>G (p.Thr514=) single nucleotide variant not provided [RCV002202072] Chr2:74535329 [GRCh38]
Chr2:74762456 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2188+15G>A single nucleotide variant not provided [RCV002139871] Chr2:74533867 [GRCh38]
Chr2:74760994 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1602C>T (p.His534=) single nucleotide variant not provided [RCV002139873] Chr2:74534752 [GRCh38]
Chr2:74761879 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1940-10A>G single nucleotide variant not provided [RCV002100867] Chr2:74534246 [GRCh38]
Chr2:74761373 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2077-17C>G single nucleotide variant not provided [RCV002178505] Chr2:74534010 [GRCh38]
Chr2:74761137 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1212-17T>C single nucleotide variant not provided [RCV002135786] Chr2:74532803 [GRCh38]
Chr2:74759930 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1579+14G>C single nucleotide variant not provided [RCV002142747] Chr2:74535278 [GRCh38]
Chr2:74762405 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1579+15G>A single nucleotide variant not provided [RCV002142750] Chr2:74535277 [GRCh38]
Chr2:74762404 [GRCh37]
Chr2:2p13.1
likely benign
NC_000002.11:g.(?_72359356)_(74779761_?)del deletion MOGS-congenital disorder of glycosylation [RCV003109485]|not provided [RCV003116543] Chr2:72359356..74779761 [GRCh37]
Chr2:2p13.2-13.1
pathogenic|no classifications from unflagged records
NM_032603.5(LOXL3):c.1582G>A (p.Ala528Thr) single nucleotide variant not specified [RCV004936420] Chr2:74534772 [GRCh38]
Chr2:74761899 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1334G>A (p.Arg445Gln) single nucleotide variant not provided [RCV003116018] Chr2:74532942 [GRCh38]
Chr2:74760069 [GRCh37]
Chr2:2p13.1
uncertain significance
NC_000002.11:g.(?_69240632)_(74779761_?)dup duplication not provided [RCV003122858] Chr2:69240632..74779761 [GRCh37]
Chr2:2p13.3-13.1
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
NM_013247.5(HTRA2):c.1366G>A (p.Val456Ile) single nucleotide variant not provided [RCV002265393] Chr2:74532974 [GRCh38]
Chr2:74760101 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1267C>T (p.Arg423Cys) single nucleotide variant not provided [RCV002291892]|not specified [RCV004047611] Chr2:74535737 [GRCh38]
Chr2:74762864 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.923G>C (p.Arg308Pro) single nucleotide variant not provided [RCV002297728] Chr2:74536461 [GRCh38]
Chr2:74763588 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.308G>A (p.Gly103Glu) single nucleotide variant not provided [RCV002469591] Chr2:74552327 [GRCh38]
Chr2:74779454 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1001G>T (p.Arg334Leu) single nucleotide variant not provided [RCV002304359] Chr2:74536383 [GRCh38]
Chr2:74763510 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1156T>G (p.Cys386Gly) single nucleotide variant not provided [RCV002304801] Chr2:74536088 [GRCh38]
Chr2:74763215 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1662T>G (p.Cys554Trp) single nucleotide variant not provided [RCV002296005] Chr2:74534692 [GRCh38]
Chr2:74761819 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1290C>T (p.Val430=) single nucleotide variant not provided [RCV002726935] Chr2:74535714 [GRCh38]
Chr2:74762841 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1358T>C (p.Leu453Pro) single nucleotide variant not specified [RCV004169481] Chr2:74535646 [GRCh38]
Chr2:74762773 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.449delinsAA (p.Pro150fs) indel Myopia 28, autosomal recessive [RCV004798952] Chr2:74550213 [GRCh38]
Chr2:74777340 [GRCh37]
Chr2:2p13.1
pathogenic
NM_032603.5(LOXL3):c.1838_1839dup (p.Asp614fs) duplication not provided [RCV002731331] Chr2:74534415..74534416 [GRCh38]
Chr2:74761542..74761543 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.351C>T (p.Thr117=) single nucleotide variant not provided [RCV002971680] Chr2:74550311 [GRCh38]
Chr2:74777438 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1211+12G>T single nucleotide variant not provided [RCV003016728] Chr2:74532726 [GRCh38]
Chr2:74759853 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1701A>C (p.Ser567=) single nucleotide variant not provided [RCV003098984] Chr2:74534653 [GRCh38]
Chr2:74761780 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1736G>A (p.Arg579Gln) single nucleotide variant not provided [RCV002948089] Chr2:74534618 [GRCh38]
Chr2:74761745 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2251C>A (p.Gln751Lys) single nucleotide variant not specified [RCV004230156] Chr2:74533617 [GRCh38]
Chr2:74760744 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1809G>A (p.Trp603Ter) single nucleotide variant not provided [RCV002843299] Chr2:74534545 [GRCh38]
Chr2:74761672 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1478C>G (p.Thr493Arg) single nucleotide variant not provided [RCV002618564] Chr2:74535393 [GRCh38]
Chr2:74762520 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1318C>T (p.Leu440Phe) single nucleotide variant not specified [RCV004098228] Chr2:74535686 [GRCh38]
Chr2:74762813 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.219C>G (p.Asp73Glu) single nucleotide variant not provided [RCV002996563] Chr2:74552416 [GRCh38]
Chr2:74779543 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV002819512] Chr2:74552595 [GRCh38]
Chr2:74779722 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2076+8G>A single nucleotide variant not provided [RCV002750659] Chr2:74534092 [GRCh38]
Chr2:74761219 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.9T>C (p.Pro3=) single nucleotide variant not provided [RCV002839013] Chr2:74552626 [GRCh38]
Chr2:74779753 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.956G>A (p.Arg319Gln) single nucleotide variant not provided [RCV002616719] Chr2:74536428 [GRCh38]
Chr2:74763555 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.788A>G (p.Tyr263Cys) single nucleotide variant not specified [RCV004188468] Chr2:74536833 [GRCh38]
Chr2:74763960 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.467A>G (p.Asn156Ser) single nucleotide variant not provided [RCV002755082] Chr2:74550195 [GRCh38]
Chr2:74777322 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.477+14A>G single nucleotide variant not provided [RCV002903257] Chr2:74550171 [GRCh38]
Chr2:74777298 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter) single nucleotide variant not provided [RCV002843054] Chr2:74532926 [GRCh38]
Chr2:74760053 [GRCh37]
Chr2:2p13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_032603.5(LOXL3):c.1153A>C (p.Lys385Gln) single nucleotide variant not provided [RCV002819633] Chr2:74536091 [GRCh38]
Chr2:74763218 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1939+4A>C single nucleotide variant not provided [RCV003016163] Chr2:74534312 [GRCh38]
Chr2:74761439 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1564G>A (p.Val522Ile) single nucleotide variant not specified [RCV004242785] Chr2:74535307 [GRCh38]
Chr2:74762434 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.373G>A (p.Ala125Thr) single nucleotide variant not provided [RCV002843159] Chr2:74550289 [GRCh38]
Chr2:74777416 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1951C>T (p.Arg651Trp) single nucleotide variant not provided [RCV002686161] Chr2:74534225 [GRCh38]
Chr2:74761352 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.957G>C (p.Arg319=) single nucleotide variant not provided [RCV002593378] Chr2:74536427 [GRCh38]
Chr2:74763554 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1152G>T (p.Trp384Cys) single nucleotide variant not provided [RCV003021753] Chr2:74536092 [GRCh38]
Chr2:74763219 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.680C>T (p.Ala227Val) single nucleotide variant not provided [RCV002662824] Chr2:74549381 [GRCh38]
Chr2:74776508 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.313+15A>C single nucleotide variant not provided [RCV002622712] Chr2:74552307 [GRCh38]
Chr2:74779434 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.300T>C (p.Tyr100=) single nucleotide variant not provided [RCV002658562] Chr2:74552335 [GRCh38]
Chr2:74779462 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1880C>G (p.Thr627Ser) single nucleotide variant not provided [RCV003036180] Chr2:74534375 [GRCh38]
Chr2:74761502 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1893G>A (p.Glu631=) single nucleotide variant not provided [RCV003035750] Chr2:74534362 [GRCh38]
Chr2:74761489 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2120C>T (p.Thr707Ile) single nucleotide variant not provided [RCV002691196]|not specified [RCV004935273] Chr2:74533950 [GRCh38]
Chr2:74761077 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1245C>T (p.Thr415=) single nucleotide variant not provided [RCV002591227] Chr2:74535999 [GRCh38]
Chr2:74763126 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1567A>G (p.Ile523Val) single nucleotide variant not provided [RCV002843949] Chr2:74535304 [GRCh38]
Chr2:74762431 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.923G>A (p.Arg308His) single nucleotide variant not provided [RCV002780256]|not specified [RCV004935276] Chr2:74536461 [GRCh38]
Chr2:74763588 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.211G>A (p.Asp71Asn) single nucleotide variant not provided [RCV003018877] Chr2:74552424 [GRCh38]
Chr2:74779551 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.913-11C>G single nucleotide variant not provided [RCV003035717] Chr2:74536482 [GRCh38]
Chr2:74763609 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1952G>A (p.Arg651Gln) single nucleotide variant not provided [RCV002976144] Chr2:74534224 [GRCh38]
Chr2:74761351 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.860A>G (p.Tyr287Cys) single nucleotide variant not provided [RCV003036692] Chr2:74536761 [GRCh38]
Chr2:74763888 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1414C>G (p.Gln472Glu) single nucleotide variant not provided [RCV002796846]|not specified [RCV004064878] Chr2:74535590 [GRCh38]
Chr2:74762717 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2188+12del deletion not provided [RCV002736847] Chr2:74533870 [GRCh38]
Chr2:74760997 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1158C>A (p.Cys386Ter) single nucleotide variant not provided [RCV002867914] Chr2:74536086 [GRCh38]
Chr2:74763213 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2152G>A (p.Asp718Asn) single nucleotide variant not specified [RCV004143582] Chr2:74533918 [GRCh38]
Chr2:74761045 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1813G>A (p.Glu605Lys) single nucleotide variant not provided [RCV002785440] Chr2:74534541 [GRCh38]
Chr2:74761668 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1294G>A (p.Val432Met) single nucleotide variant not provided [RCV002622654] Chr2:74535710 [GRCh38]
Chr2:74762837 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1116-19G>A single nucleotide variant not provided [RCV002570099] Chr2:74532600 [GRCh38]
Chr2:74759727 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2188+1G>A single nucleotide variant not provided [RCV002913343] Chr2:74533881 [GRCh38]
Chr2:74761008 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.712C>G (p.Gln238Glu) single nucleotide variant not specified [RCV004125087] Chr2:74536909 [GRCh38]
Chr2:74764036 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.711G>T (p.Gln237His) single nucleotide variant not specified [RCV004125086] Chr2:74536910 [GRCh38]
Chr2:74764037 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1824-18G>C single nucleotide variant not provided [RCV003021243] Chr2:74534449 [GRCh38]
Chr2:74761576 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.533G>T (p.Gly178Val) single nucleotide variant not specified [RCV004109331] Chr2:74549528 [GRCh38]
Chr2:74776655 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1765C>T (p.Arg589Ter) single nucleotide variant not provided [RCV002621466] Chr2:74534589 [GRCh38]
Chr2:74761716 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1949A>C (p.Lys650Thr) single nucleotide variant not provided [RCV002918772] Chr2:74534227 [GRCh38]
Chr2:74761354 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.912+7G>A single nucleotide variant not provided [RCV002786401] Chr2:74536702 [GRCh38]
Chr2:74763829 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1183A>T (p.Lys395Ter) single nucleotide variant not provided [RCV002643481] Chr2:74532686 [GRCh38]
Chr2:74759813 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.405G>C (p.Thr135=) single nucleotide variant not provided [RCV003007170] Chr2:74550257 [GRCh38]
Chr2:74777384 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.507G>C (p.Val169=) single nucleotide variant not provided [RCV002958461] Chr2:74549554 [GRCh38]
Chr2:74776681 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1646T>C (p.Leu549Pro) single nucleotide variant not provided [RCV003082667] Chr2:74534708 [GRCh38]
Chr2:74761835 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1258A>G (p.Met420Val) single nucleotide variant Inborn genetic diseases [RCV004983085]|not provided [RCV002700257] Chr2:74532866 [GRCh38]
Chr2:74759993 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.753G>A (p.Thr251=) single nucleotide variant not provided [RCV002957448] Chr2:74536868 [GRCh38]
Chr2:74763995 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.711G>A (p.Gln237=) single nucleotide variant not provided [RCV002852072] Chr2:74536910 [GRCh38]
Chr2:74764037 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2076+15G>A single nucleotide variant not provided [RCV002741013] Chr2:74534085 [GRCh38]
Chr2:74761212 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1827T>C (p.His609=) single nucleotide variant not provided [RCV002894994] Chr2:74534428 [GRCh38]
Chr2:74761555 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.169C>T (p.Arg57Cys) single nucleotide variant not provided [RCV002627213] Chr2:74552466 [GRCh38]
Chr2:74779593 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.797A>G (p.Asn266Ser) single nucleotide variant not provided [RCV003085659]|not specified [RCV004071749] Chr2:74536824 [GRCh38]
Chr2:74763951 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1584A>C (p.Ala528=) single nucleotide variant not provided [RCV002667324] Chr2:74534770 [GRCh38]
Chr2:74761897 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.523G>A (p.Val175Ile) single nucleotide variant not provided [RCV003057243] Chr2:74549538 [GRCh38]
Chr2:74776665 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.133C>A (p.Arg45=) single nucleotide variant not provided [RCV002643312] Chr2:74552502 [GRCh38]
Chr2:74779629 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1848C>T (p.Phe616=) single nucleotide variant not provided [RCV002699982] Chr2:74534407 [GRCh38]
Chr2:74761534 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.94G>A (p.Gly32Ser) single nucleotide variant not provided [RCV002700194]|not specified [RCV004935272] Chr2:74552541 [GRCh38]
Chr2:74779668 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.443G>A (p.Arg148His) single nucleotide variant not provided [RCV003082309] Chr2:74550219 [GRCh38]
Chr2:74777346 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2076+16G>A single nucleotide variant not provided [RCV002786655] Chr2:74534084 [GRCh38]
Chr2:74761211 [GRCh37]
Chr2:2p13.1
benign
NM_032603.5(LOXL3):c.154A>G (p.Lys52Glu) single nucleotide variant not provided [RCV002801346] Chr2:74552481 [GRCh38]
Chr2:74779608 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1076G>A (p.Gly359Asp) single nucleotide variant not specified [RCV004162114] Chr2:74536308 [GRCh38]
Chr2:74763435 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1158T>C (p.Asp386=) single nucleotide variant not provided [RCV002667776] Chr2:74532661 [GRCh38]
Chr2:74759788 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1408G>A (p.Gly470Ser) single nucleotide variant not specified [RCV004117778] Chr2:74535596 [GRCh38]
Chr2:74762723 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1513C>G (p.His505Asp) single nucleotide variant not provided [RCV002595436] Chr2:74535358 [GRCh38]
Chr2:74762485 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.549C>T (p.Pro183=) single nucleotide variant not provided [RCV002667633] Chr2:74549512 [GRCh38]
Chr2:74776639 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.561G>A (p.Gly187=) single nucleotide variant not provided [RCV002876328] Chr2:74549500 [GRCh38]
Chr2:74776627 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.278G>C (p.Gly93Ala) single nucleotide variant not provided [RCV003082310] Chr2:74552357 [GRCh38]
Chr2:74779484 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.161A>G (p.Tyr54Cys) single nucleotide variant not provided [RCV002791100] Chr2:74552474 [GRCh38]
Chr2:74779601 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1877G>A (p.Gly626Asp) single nucleotide variant not specified [RCV004149713] Chr2:74534378 [GRCh38]
Chr2:74761505 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.912+16A>T single nucleotide variant not provided [RCV002572716] Chr2:74536693 [GRCh38]
Chr2:74763820 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.892C>T (p.Gln298Ter) single nucleotide variant not provided [RCV002825717] Chr2:74536729 [GRCh38]
Chr2:74763856 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.313+3G>T single nucleotide variant not provided [RCV002853110] Chr2:74552319 [GRCh38]
Chr2:74779446 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.508C>T (p.Arg170Ter) single nucleotide variant not provided [RCV002801909] Chr2:74549553 [GRCh38]
Chr2:74776680 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.913-4A>G single nucleotide variant not provided [RCV002626072] Chr2:74536475 [GRCh38]
Chr2:74763602 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2223T>A (p.Phe741Leu) single nucleotide variant not provided [RCV002890827] Chr2:74533645 [GRCh38]
Chr2:74760772 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.691A>T (p.Arg231Trp) single nucleotide variant not provided [RCV002710534] Chr2:74549370 [GRCh38]
Chr2:74776497 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.926T>C (p.Leu309Pro) single nucleotide variant not provided [RCV003024429] Chr2:74536458 [GRCh38]
Chr2:74763585 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1156G>A (p.Asp386Asn) single nucleotide variant not provided [RCV002805322] Chr2:74532659 [GRCh38]
Chr2:74759786 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.117C>T (p.Ser39=) single nucleotide variant not provided [RCV002966909] Chr2:74552518 [GRCh38]
Chr2:74779645 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1094-11T>C single nucleotide variant not provided [RCV003043989] Chr2:74536161 [GRCh38]
Chr2:74763288 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1243G>A (p.Ala415Thr) single nucleotide variant not provided [RCV002632422] Chr2:74532851 [GRCh38]
Chr2:74759978 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.591_596del (p.Trp197_Gln199delinsTer) deletion not provided [RCV002810801] Chr2:74549465..74549470 [GRCh38]
Chr2:74776592..74776597 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1940-8C>A single nucleotide variant not provided [RCV002900348] Chr2:74534244 [GRCh38]
Chr2:74761371 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.527G>A (p.Gly176Glu) single nucleotide variant LOXL3-related disorder [RCV003963508]|not provided [RCV002959132] Chr2:74549534 [GRCh38]
Chr2:74776661 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1894G>A (p.Gly632Ser) single nucleotide variant not provided [RCV002811086] Chr2:74534361 [GRCh38]
Chr2:74761488 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.66G>A (p.Ser22=) single nucleotide variant not provided [RCV003065126] Chr2:74552569 [GRCh38]
Chr2:74779696 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.804C>T (p.Thr268=) single nucleotide variant not provided [RCV002676272] Chr2:74536817 [GRCh38]
Chr2:74763944 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.409G>C (p.Asp137His) single nucleotide variant not provided [RCV002939076] Chr2:74550253 [GRCh38]
Chr2:74777380 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1271G>A (p.Ser424Asn) single nucleotide variant not provided [RCV002675868] Chr2:74535733 [GRCh38]
Chr2:74762860 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.111C>A (p.Ala37=) single nucleotide variant not provided [RCV002962747] Chr2:74552524 [GRCh38]
Chr2:74779651 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.561G>T (p.Gly187=) single nucleotide variant not provided [RCV002671053] Chr2:74549500 [GRCh38]
Chr2:74776627 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1939+7T>C single nucleotide variant not provided [RCV002599300] Chr2:74534309 [GRCh38]
Chr2:74761436 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1824-14C>T single nucleotide variant not provided [RCV003043929] Chr2:74534445 [GRCh38]
Chr2:74761572 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2050G>A (p.Val684Met) single nucleotide variant not provided [RCV003046939] Chr2:74534126 [GRCh38]
Chr2:74761253 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1552T>A (p.Phe518Ile) single nucleotide variant not provided [RCV002630249] Chr2:74535319 [GRCh38]
Chr2:74762446 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1521C>T (p.Thr507=) single nucleotide variant not provided [RCV002651074] Chr2:74535350 [GRCh38]
Chr2:74762477 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2112T>C (p.Ser704=) single nucleotide variant not provided [RCV003047083] Chr2:74533958 [GRCh38]
Chr2:74761085 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1244C>G (p.Thr415Ser) single nucleotide variant not provided [RCV002938786] Chr2:74536000 [GRCh38]
Chr2:74763127 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.123G>A (p.Gly41=) single nucleotide variant not provided [RCV002770263] Chr2:74552512 [GRCh38]
Chr2:74779639 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1715A>G (p.Tyr572Cys) single nucleotide variant not provided [RCV002717266] Chr2:74534639 [GRCh38]
Chr2:74761766 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1881C>A (p.Thr627=) single nucleotide variant not provided [RCV003090326] Chr2:74534374 [GRCh38]
Chr2:74761501 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1283G>T (p.Gly428Val) single nucleotide variant not provided [RCV002810294] Chr2:74535721 [GRCh38]
Chr2:74762848 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.593C>A (p.Ser198Ter) single nucleotide variant not provided [RCV002716129] Chr2:74549468 [GRCh38]
Chr2:74776595 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1502A>C (p.Gln501Pro) single nucleotide variant not specified [RCV004116155] Chr2:74535369 [GRCh38]
Chr2:74762496 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1215G>C (p.Arg405=) single nucleotide variant not provided [RCV002857299] Chr2:74536029 [GRCh38]
Chr2:74763156 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1417-18A>G single nucleotide variant not provided [RCV002676018] Chr2:74535472 [GRCh38]
Chr2:74762599 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.160T>C (p.Tyr54His) single nucleotide variant not provided [RCV003091693]|not specified [RCV004927881] Chr2:74552475 [GRCh38]
Chr2:74779602 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1077C>G (p.Gly359=) single nucleotide variant not provided [RCV002600249] Chr2:74536307 [GRCh38]
Chr2:74763434 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.555G>A (p.Thr185=) single nucleotide variant not provided [RCV002577565] Chr2:74549506 [GRCh38]
Chr2:74776633 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.170G>A (p.Arg57His) single nucleotide variant not provided [RCV002670790] Chr2:74552465 [GRCh38]
Chr2:74779592 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2002G>A (p.Asp668Asn) single nucleotide variant not specified [RCV004175471] Chr2:74534174 [GRCh38]
Chr2:74761301 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.116G>T (p.Ser39Ile) single nucleotide variant not provided [RCV002597900] Chr2:74552519 [GRCh38]
Chr2:74779646 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.316C>T (p.Arg106Cys) single nucleotide variant not provided [RCV002634998] Chr2:74550346 [GRCh38]
Chr2:74777473 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1355C>T (p.Thr452Ile) single nucleotide variant not provided [RCV002605300] Chr2:74535649 [GRCh38]
Chr2:74762776 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1383A>T (p.Gln461His) single nucleotide variant not provided [RCV002725728] Chr2:74535621 [GRCh38]
Chr2:74762748 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1643C>A (p.Pro548His) single nucleotide variant not provided [RCV002657960] Chr2:74534711 [GRCh38]
Chr2:74761838 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.634G>A (p.Val212Met) single nucleotide variant not provided [RCV002603763] Chr2:74549427 [GRCh38]
Chr2:74776554 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.912G>A (p.Glu304=) single nucleotide variant not provided [RCV002583043] Chr2:74536709 [GRCh38]
Chr2:74763836 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1417-12A>C single nucleotide variant not provided [RCV002605812] Chr2:74535466 [GRCh38]
Chr2:74762593 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1416+13G>A single nucleotide variant not provided [RCV002610053] Chr2:74535575 [GRCh38]
Chr2:74762702 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1162C>A (p.His388Asn) single nucleotide variant not provided [RCV002634494]|not specified [RCV004065788] Chr2:74536082 [GRCh38]
Chr2:74763209 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1550G>A (p.Arg517His) single nucleotide variant not provided [RCV003072225] Chr2:74535321 [GRCh38]
Chr2:74762448 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2259C>G (p.Ile753Met) single nucleotide variant not provided [RCV002583390] Chr2:74533609 [GRCh38]
Chr2:74760736 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1116-10G>A single nucleotide variant not provided [RCV002657879] Chr2:74532609 [GRCh38]
Chr2:74759736 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2076+11T>A single nucleotide variant not provided [RCV002589084] Chr2:74534089 [GRCh38]
Chr2:74761216 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.863C>T (p.Ala288Val) single nucleotide variant not provided [RCV002654591]|not specified [RCV004072018] Chr2:74536758 [GRCh38]
Chr2:74763885 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1806G>A (p.Val602=) single nucleotide variant not provided [RCV002584100] Chr2:74534548 [GRCh38]
Chr2:74761675 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1727G>A (p.Arg576His) single nucleotide variant not specified [RCV004936418] Chr2:74534627 [GRCh38]
Chr2:74761754 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1844T>C (p.Ile615Thr) single nucleotide variant not provided [RCV002608173] Chr2:74534411 [GRCh38]
Chr2:74761538 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.142_145dup (p.Phe49fs) microsatellite not provided [RCV002589756] Chr2:74552489..74552490 [GRCh38]
Chr2:74779616..74779617 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.251G>A (p.Arg84Gln) single nucleotide variant not provided [RCV002633267] Chr2:74552384 [GRCh38]
Chr2:74779511 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1830C>T (p.Tyr610=) single nucleotide variant not provided [RCV002653907] Chr2:74534425 [GRCh38]
Chr2:74761552 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.134G>A (p.Arg45Gln) single nucleotide variant not provided [RCV003071139] Chr2:74552501 [GRCh38]
Chr2:74779628 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1760T>A (p.Leu587Gln) single nucleotide variant LOXL3-related disorder [RCV003393217] Chr2:74534594 [GRCh38]
Chr2:74761721 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1781C>A (p.Pro594His) single nucleotide variant not provided [RCV003159418] Chr2:74534573 [GRCh38]
Chr2:74761700 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.100G>A (p.Glu34Lys) single nucleotide variant not specified [RCV004278489] Chr2:74552535 [GRCh38]
Chr2:74779662 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1 copy number loss not provided [RCV003223078] Chr2:73716761..75347894 [GRCh37]
Chr2:2p13.1-12
uncertain significance
NM_032603.5(LOXL3):c.2021T>C (p.Ile674Thr) single nucleotide variant not specified [RCV004264622] Chr2:74534155 [GRCh38]
Chr2:74761282 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1976A>G (p.Glu659Gly) single nucleotide variant not specified [RCV004350999] Chr2:74534200 [GRCh38]
Chr2:74761327 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.258G>A (p.Leu86=) single nucleotide variant not provided [RCV003675667] Chr2:74552377 [GRCh38]
Chr2:74779504 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.162C>T (p.Tyr54=) single nucleotide variant not provided [RCV003728814] Chr2:74552473 [GRCh38]
Chr2:74779600 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.75G>A (p.Gly25=) single nucleotide variant not provided [RCV003717687] Chr2:74552560 [GRCh38]
Chr2:74779687 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.483G>A (p.Glu161=) single nucleotide variant not provided [RCV003701050] Chr2:74549578 [GRCh38]
Chr2:74776705 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.39G>A (p.Gly13=) single nucleotide variant not provided [RCV003734810] Chr2:74552596 [GRCh38]
Chr2:74779723 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.594G>T (p.Ser198=) single nucleotide variant not provided [RCV003663912] Chr2:74549467 [GRCh38]
Chr2:74776594 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1957G>A (p.Glu653Lys) single nucleotide variant not provided [RCV003874434] Chr2:74534219 [GRCh38]
Chr2:74761346 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.201C>T (p.Gly67=) single nucleotide variant not provided [RCV003690243] Chr2:74552434 [GRCh38]
Chr2:74779561 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.481G>C (p.Glu161Gln) single nucleotide variant not provided [RCV003683760] Chr2:74549580 [GRCh38]
Chr2:74776707 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2223T>C (p.Phe741=) single nucleotide variant not provided [RCV003571181] Chr2:74533645 [GRCh38]
Chr2:74760772 [GRCh37]
Chr2:2p13.1
likely benign
NM_001381.5(DOK1):c.17T>C (p.Met6Thr) single nucleotide variant not provided [RCV003427069]|not specified [RCV004907846] Chr2:74554771 [GRCh38]
Chr2:74781898 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.818G>T (p.Gly273Val) single nucleotide variant LOXL3-related disorder [RCV003410392] Chr2:74536803 [GRCh38]
Chr2:74763930 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1198C>T (p.Gln400Ter) single nucleotide variant not provided [RCV003443912] Chr2:74536046 [GRCh38]
Chr2:74763173 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1557T>C (p.Thr519=) single nucleotide variant not provided [RCV003579248] Chr2:74535314 [GRCh38]
Chr2:74762441 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1417-2A>G single nucleotide variant not provided [RCV003827221] Chr2:74535456 [GRCh38]
Chr2:74762583 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1580-18C>G single nucleotide variant not provided [RCV003574175] Chr2:74534792 [GRCh38]
Chr2:74761919 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1580-11_1580-8del deletion not provided [RCV003740224] Chr2:74534782..74534785 [GRCh38]
Chr2:74761909..74761912 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1211+18G>T single nucleotide variant not provided [RCV003694842] Chr2:74532732 [GRCh38]
Chr2:74759859 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.153_183del (p.Arg51fs) deletion not provided [RCV003547974] Chr2:74552452..74552482 [GRCh38]
Chr2:74779579..74779609 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.12C>T (p.Val4=) single nucleotide variant not provided [RCV003882041] Chr2:74552623 [GRCh38]
Chr2:74779750 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2076+17G>C single nucleotide variant not provided [RCV003694828] Chr2:74534083 [GRCh38]
Chr2:74761210 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2109G>A (p.Glu703=) single nucleotide variant not provided [RCV003694226] Chr2:74533961 [GRCh38]
Chr2:74761088 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.755A>G (p.Glu252Gly) single nucleotide variant not provided [RCV003576963] Chr2:74536866 [GRCh38]
Chr2:74763993 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1692A>G (p.Ser564=) single nucleotide variant not provided [RCV003578457] Chr2:74534662 [GRCh38]
Chr2:74761789 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1939+10G>T single nucleotide variant not provided [RCV003577962] Chr2:74534306 [GRCh38]
Chr2:74761433 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1556C>T (p.Thr519Ile) single nucleotide variant not provided [RCV003882416] Chr2:74535315 [GRCh38]
Chr2:74762442 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1041G>A (p.Glu347=) single nucleotide variant not provided [RCV003739658] Chr2:74536343 [GRCh38]
Chr2:74763470 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.477+18A>T single nucleotide variant not provided [RCV003564467] Chr2:74550167 [GRCh38]
Chr2:74777294 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.477+11C>T single nucleotide variant not provided [RCV003829143] Chr2:74550174 [GRCh38]
Chr2:74777301 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1480G>A (p.Gly494Arg) single nucleotide variant not provided [RCV003547123] Chr2:74535391 [GRCh38]
Chr2:74762518 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2046G>A (p.Thr682=) single nucleotide variant not provided [RCV003544840] Chr2:74534130 [GRCh38]
Chr2:74761257 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2202T>C (p.Ser734=) single nucleotide variant not provided [RCV003547983] Chr2:74533666 [GRCh38]
Chr2:74760793 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.4C>A (p.Arg2=) single nucleotide variant not provided [RCV003559232] Chr2:74552631 [GRCh38]
Chr2:74779758 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1857T>C (p.Tyr619=) single nucleotide variant not provided [RCV003849773] Chr2:74534398 [GRCh38]
Chr2:74761525 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.913-19G>A single nucleotide variant not provided [RCV003659545] Chr2:74536490 [GRCh38]
Chr2:74763617 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1940-19C>T single nucleotide variant not provided [RCV003664122] Chr2:74534255 [GRCh38]
Chr2:74761382 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1580-18C>T single nucleotide variant not provided [RCV003849788] Chr2:74534792 [GRCh38]
Chr2:74761919 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.824G>T (p.Gly275Val) single nucleotide variant not provided [RCV003673688] Chr2:74536797 [GRCh38]
Chr2:74763924 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1869C>T (p.Thr623=) single nucleotide variant LOXL3-related disorder [RCV003901241]|not provided [RCV003671009] Chr2:74534386 [GRCh38]
Chr2:74761513 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1940-14del deletion not provided [RCV003664121] Chr2:74534250 [GRCh38]
Chr2:74761377 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1207G>A (p.Gly403Arg) single nucleotide variant not provided [RCV003671556] Chr2:74536037 [GRCh38]
Chr2:74763164 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1917C>T (p.Leu639=) single nucleotide variant not provided [RCV003669892] Chr2:74534338 [GRCh38]
Chr2:74761465 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.375C>T (p.Ala125=) single nucleotide variant not provided [RCV003833882] Chr2:74550287 [GRCh38]
Chr2:74777414 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.989C>T (p.Thr330Ile) single nucleotide variant not provided [RCV003580808] Chr2:74536395 [GRCh38]
Chr2:74763522 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2189-8C>T single nucleotide variant not provided [RCV003663942] Chr2:74533687 [GRCh38]
Chr2:74760814 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1212-15C>T single nucleotide variant not provided [RCV003673072] Chr2:74532805 [GRCh38]
Chr2:74759932 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2174A>C (p.His725Pro) single nucleotide variant not provided [RCV003549855] Chr2:74533896 [GRCh38]
Chr2:74761023 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1579+20A>G single nucleotide variant not provided [RCV003856077] Chr2:74535272 [GRCh38]
Chr2:74762399 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1249-11T>C single nucleotide variant not provided [RCV003836039] Chr2:74535766 [GRCh38]
Chr2:74762893 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1417-6C>T single nucleotide variant not provided [RCV003674104] Chr2:74535460 [GRCh38]
Chr2:74762587 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1050C>T (p.Phe350=) single nucleotide variant not provided [RCV003558930] Chr2:74536334 [GRCh38]
Chr2:74763461 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1362T>C (p.Pro454=) single nucleotide variant not provided [RCV003850178] Chr2:74532970 [GRCh38]
Chr2:74760097 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1356C>A (p.Thr452=) single nucleotide variant not provided [RCV003723516] Chr2:74535648 [GRCh38]
Chr2:74762775 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1095C>T (p.Gly365=) single nucleotide variant not provided [RCV003668213] Chr2:74536149 [GRCh38]
Chr2:74763276 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1249-12G>A single nucleotide variant not provided [RCV003560670] Chr2:74535767 [GRCh38]
Chr2:74762894 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2262A>G (p.Ter754=) single nucleotide variant not provided [RCV003701928] Chr2:74533606 [GRCh38]
Chr2:74760733 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.939C>A (p.Ala313=) single nucleotide variant not provided [RCV003700373] Chr2:74536445 [GRCh38]
Chr2:74763572 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1404C>T (p.Asn468=) single nucleotide variant not provided [RCV003668834] Chr2:74535600 [GRCh38]
Chr2:74762727 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1125C>T (p.Arg375=) single nucleotide variant not provided [RCV003667948] Chr2:74536119 [GRCh38]
Chr2:74763246 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.478-16G>T single nucleotide variant not provided [RCV003836423] Chr2:74549599 [GRCh38]
Chr2:74776726 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1933C>T (p.Gln645Ter) single nucleotide variant not provided [RCV003709043] Chr2:74534322 [GRCh38]
Chr2:74761449 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.744C>T (p.Cys248=) single nucleotide variant not provided [RCV003845508] Chr2:74536877 [GRCh38]
Chr2:74764004 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1094-13C>T single nucleotide variant not provided [RCV003681971] Chr2:74536163 [GRCh38]
Chr2:74763290 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1824-10C>T single nucleotide variant not provided [RCV003541814] Chr2:74534441 [GRCh38]
Chr2:74761568 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1093+9G>C single nucleotide variant not provided [RCV003563269] Chr2:74536282 [GRCh38]
Chr2:74763409 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.381G>A (p.Arg127=) single nucleotide variant not provided [RCV003818884] Chr2:74550281 [GRCh38]
Chr2:74777408 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1116-8A>C single nucleotide variant not provided [RCV003566276] Chr2:74532611 [GRCh38]
Chr2:74759738 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1332C>T (p.Leu444=) single nucleotide variant not provided [RCV003676262] Chr2:74535672 [GRCh38]
Chr2:74762799 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.825C>G (p.Gly275=) single nucleotide variant not provided [RCV003821566] Chr2:74536796 [GRCh38]
Chr2:74763923 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2154T>C (p.Asp718=) single nucleotide variant not provided [RCV003683418] Chr2:74533916 [GRCh38]
Chr2:74761043 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1211+16C>T single nucleotide variant not provided [RCV003709945] Chr2:74532730 [GRCh38]
Chr2:74759857 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1185T>C (p.Asp395=) single nucleotide variant not provided [RCV003867416] Chr2:74536059 [GRCh38]
Chr2:74763186 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2058A>C (p.Pro686=) single nucleotide variant not provided [RCV003680646] Chr2:74534118 [GRCh38]
Chr2:74761245 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1779G>A (p.Arg593=) single nucleotide variant not provided [RCV003841997] Chr2:74534575 [GRCh38]
Chr2:74761702 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1824-27_1824-18del deletion not provided [RCV003860446] Chr2:74534449..74534458 [GRCh38]
Chr2:74761576..74761585 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1579+15G>C single nucleotide variant not provided [RCV003676508] Chr2:74535277 [GRCh38]
Chr2:74762404 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1314A>G (p.Ala438=) single nucleotide variant not provided [RCV003684530] Chr2:74532922 [GRCh38]
Chr2:74760049 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1341A>G (p.Thr447=) single nucleotide variant not provided [RCV003707257] Chr2:74532949 [GRCh38]
Chr2:74760076 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1761G>A (p.Leu587=) single nucleotide variant not provided [RCV003718780] Chr2:74534593 [GRCh38]
Chr2:74761720 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1608A>T (p.Ala536=) single nucleotide variant not provided [RCV003685820] Chr2:74534746 [GRCh38]
Chr2:74761873 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1594T>C (p.Leu532=) single nucleotide variant not provided [RCV003707513] Chr2:74534760 [GRCh38]
Chr2:74761887 [GRCh37]
Chr2:2p13.1
likely benign
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 copy number loss not specified [RCV003986388] Chr2:71076472..76368354 [GRCh37]
Chr2:2p13.3-12
likely pathogenic
NM_032603.5(LOXL3):c.1579+19G>A single nucleotide variant not provided [RCV003844748] Chr2:74535273 [GRCh38]
Chr2:74762400 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.913-19G>C single nucleotide variant not provided [RCV003853550] Chr2:74536490 [GRCh38]
Chr2:74763617 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1580-19C>T single nucleotide variant not provided [RCV003841355] Chr2:74534793 [GRCh38]
Chr2:74761920 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1579+16G>A single nucleotide variant not provided [RCV003853140] Chr2:74535276 [GRCh38]
Chr2:74762403 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1249-12G>T single nucleotide variant not provided [RCV003842019] Chr2:74535767 [GRCh38]
Chr2:74762894 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1211+15G>A single nucleotide variant not provided [RCV003820831] Chr2:74532729 [GRCh38]
Chr2:74759856 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1940-17T>C single nucleotide variant not provided [RCV003846648] Chr2:74534253 [GRCh38]
Chr2:74761380 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1668G>C (p.Ala556=) single nucleotide variant not provided [RCV003676064] Chr2:74534686 [GRCh38]
Chr2:74761813 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1065A>G (p.Glu355=) single nucleotide variant not provided [RCV003568078] Chr2:74536319 [GRCh38]
Chr2:74763446 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1362T>A (p.Pro454=) single nucleotide variant HTRA2-related disorder [RCV003914456] Chr2:74532970 [GRCh38]
Chr2:74760097 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.762C>G (p.His254Gln) single nucleotide variant LOXL3-related disorder [RCV003894170] Chr2:74536859 [GRCh38]
Chr2:74763986 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.658C>T (p.Pro220Ser) single nucleotide variant LOXL3-related disorder [RCV003893875] Chr2:74549403 [GRCh38]
Chr2:74776530 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1182T>C (p.His394=) single nucleotide variant HTRA2-related disorder [RCV003894585] Chr2:74532685 [GRCh38]
Chr2:74759812 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1471C>T (p.Arg491Cys) single nucleotide variant not specified [RCV004410460] Chr2:74535400 [GRCh38]
Chr2:74762527 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.163G>A (p.Glu55Lys) single nucleotide variant not specified [RCV004410461] Chr2:74552472 [GRCh38]
Chr2:74779599 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1726C>T (p.Arg576Cys) single nucleotide variant not specified [RCV004410462] Chr2:74534628 [GRCh38]
Chr2:74761755 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.670A>G (p.Arg224Gly) single nucleotide variant not specified [RCV004410463] Chr2:74549391 [GRCh38]
Chr2:74776518 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.874G>A (p.Gly292Ser) single nucleotide variant not specified [RCV004410464] Chr2:74536747 [GRCh38]
Chr2:74763874 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_001381.5(DOK1):c.382C>T (p.Pro128Ser) single nucleotide variant not specified [RCV004384005] Chr2:74555596 [GRCh38]
Chr2:74782723 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2203G>A (p.Glu735Lys) single nucleotide variant not specified [RCV004637371] Chr2:74533665 [GRCh38]
Chr2:74760792 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.22C>A (p.Gln8Lys) single nucleotide variant not specified [RCV004637372] Chr2:74552613 [GRCh38]
Chr2:74779740 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1156G>T (p.Asp386Tyr) single nucleotide variant Autism [RCV004698696] Chr2:74532659 [GRCh38]
Chr2:74759786 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_001381.5(DOK1):c.445A>G (p.Thr149Ala) single nucleotide variant not specified [RCV004624535] Chr2:74555659 [GRCh38]
Chr2:74782786 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1322G>A (p.Arg441His) single nucleotide variant not specified [RCV004637375] Chr2:74535682 [GRCh38]
Chr2:74762809 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.376T>G (p.Ser126Ala) single nucleotide variant not specified [RCV004637373] Chr2:74550286 [GRCh38]
Chr2:74777413 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1789G>A (p.Gly597Arg) single nucleotide variant not specified [RCV004637374] Chr2:74534565 [GRCh38]
Chr2:74761692 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.202A>T (p.Thr68Ser) single nucleotide variant LOXL3-related disorder [RCV004747645] Chr2:74552433 [GRCh38]
Chr2:74779560 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.765C>A (p.Leu255=) single nucleotide variant LOXL3-related disorder [RCV004747548] Chr2:74536856 [GRCh38]
Chr2:74763983 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.2010C>A (p.Tyr670Ter) single nucleotide variant not provided [RCV004726151] Chr2:74534166 [GRCh38]
Chr2:74761293 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.112G>A (p.Gly38Arg) single nucleotide variant not specified [RCV004936417] Chr2:74552523 [GRCh38]
Chr2:74779650 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.103A>C (p.Lys35Gln) single nucleotide variant not specified [RCV004936416] Chr2:74552532 [GRCh38]
Chr2:74779659 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.380G>A (p.Arg127Gln) single nucleotide variant not specified [RCV004936419] Chr2:74550282 [GRCh38]
Chr2:74777409 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_001381.5(DOK1):c.257C>T (p.Ala86Val) single nucleotide variant not specified [RCV004912000] Chr2:74555350 [GRCh38]
Chr2:74782477 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_001381.5(DOK1):c.417G>C (p.Glu139Asp) single nucleotide variant not specified [RCV004920226] Chr2:74555631 [GRCh38]
Chr2:74782758 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1792C>T (p.Arg598Cys) single nucleotide variant not specified [RCV004935084] Chr2:74534562 [GRCh38]
Chr2:74761689 [GRCh37]
Chr2:2p13.1
uncertain significance
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_032603.5(LOXL3):c.536G>T (p.Arg179Ile) single nucleotide variant not provided [RCV003118037] Chr2:74549525 [GRCh38]
Chr2:74776652 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1216G>T (p.Gly406Cys) single nucleotide variant 3-methylglutaconic aciduria type 8 [RCV004799708] Chr2:74532824 [GRCh38]
Chr2:74759951 [GRCh37]
Chr2:2p13.1
likely pathogenic
NM_032603.5(LOXL3):c.980C>T (p.Thr327Ile) single nucleotide variant not provided [RCV001888435] Chr2:74536404 [GRCh38]
Chr2:74763531 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.559G>A (p.Gly187Arg) single nucleotide variant not provided [RCV001905287] Chr2:74549502 [GRCh38]
Chr2:74776629 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1223G>A (p.Arg408Gln) single nucleotide variant not provided [RCV001922160] Chr2:74532831 [GRCh38]
Chr2:74759958 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.180A>T (p.Ile60=) single nucleotide variant not provided [RCV002105006] Chr2:74552455 [GRCh38]
Chr2:74779582 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.544C>T (p.Leu182=) single nucleotide variant LOXL3-related disorder [RCV003933358]|not provided [RCV002073677] Chr2:74549517 [GRCh38]
Chr2:74776644 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1616A>G (p.Gln539Arg) single nucleotide variant not provided [RCV003115199] Chr2:74534738 [GRCh38]
Chr2:74761865 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.2233C>G (p.Pro745Ala) single nucleotide variant not specified [RCV004138199] Chr2:74533635 [GRCh38]
Chr2:74760762 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1623C>T (p.Thr541=) single nucleotide variant not provided [RCV002705548] Chr2:74534731 [GRCh38]
Chr2:74761858 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1532G>T (p.Cys511Phe) single nucleotide variant not provided [RCV002952752] Chr2:74535339 [GRCh38]
Chr2:74762466 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1116-12G>A single nucleotide variant not provided [RCV002625558] Chr2:74532607 [GRCh38]
Chr2:74759734 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1267C>G (p.Arg423Gly) single nucleotide variant not specified [RCV004116538] Chr2:74535737 [GRCh38]
Chr2:74762864 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1143C>G (p.Leu381=) single nucleotide variant not provided [RCV002985732] Chr2:74536101 [GRCh38]
Chr2:74763228 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.548C>T (p.Pro183Leu) single nucleotide variant not provided [RCV002676623] Chr2:74549513 [GRCh38]
Chr2:74776640 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.861C>T (p.Tyr287=) single nucleotide variant not provided [RCV002603164] Chr2:74536760 [GRCh38]
Chr2:74763887 [GRCh37]
Chr2:2p13.1
likely benign
NM_032603.5(LOXL3):c.1043T>C (p.Leu348Pro) single nucleotide variant not provided [RCV003325777] Chr2:74536341 [GRCh38]
Chr2:74763468 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_013247.5(HTRA2):c.1172T>A (p.Val391Glu) single nucleotide variant Leigh syndrome [RCV003330494] Chr2:74532675 [GRCh38]
Chr2:74759802 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.879G>C (p.Gln293His) single nucleotide variant not specified [RCV004352318] Chr2:74536742 [GRCh38]
Chr2:74763869 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.864G>A (p.Ala288=) single nucleotide variant not provided [RCV003839602] Chr2:74536757 [GRCh38]
Chr2:74763884 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1191C>T (p.Ile397=) single nucleotide variant not provided [RCV003702283] Chr2:74532694 [GRCh38]
Chr2:74759821 [GRCh37]
Chr2:2p13.1
likely benign
NM_013247.5(HTRA2):c.1225C>T (p.Pro409Ser) single nucleotide variant not provided [RCV003728243] Chr2:74532833 [GRCh38]
Chr2:74759960 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1253G>A (p.Arg418Gln) single nucleotide variant not specified [RCV004936421] Chr2:74535751 [GRCh38]
Chr2:74762878 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_032603.5(LOXL3):c.1286G>A (p.Arg429Gln) single nucleotide variant not specified [RCV004936422] Chr2:74535718 [GRCh38]
Chr2:74762845 [GRCh37]
Chr2:2p13.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3462
Count of miRNA genes:935
Interacting mature miRNAs:1172
Transcripts:ENST00000264094, ENST00000393937, ENST00000409249, ENST00000409549, ENST00000409986, ENST00000413469, ENST00000420535, ENST00000470907, ENST00000481835, ENST00000484369
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597391419GWAS1487493_Hbody height QTL GWAS1487493 (human)6e-14body height (VT:0001253)body height (CMO:0000106)27455424874554249Human
407007556GWAS656532_Hbody height QTL GWAS656532 (human)3e-09body height (VT:0001253)body height (CMO:0000106)27453667874536679Human
597470196GWAS1566270_HBell's palsy QTL GWAS1566270 (human)0.000005Bell's palsy27455445074554451Human

Markers in Region
RH15974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,760,158 - 74,760,341UniSTSGRCh37
Build 36274,613,666 - 74,613,849RGDNCBI36
Celera274,591,266 - 74,591,449RGD
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,496,419 - 74,496,602UniSTS
GeneMap99-GB4 RH Map2224.98UniSTS
BCD2341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,760,190 - 74,760,268UniSTSGRCh37
Build 36274,613,698 - 74,613,776RGDNCBI36
Celera274,591,298 - 74,591,376RGD
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,496,451 - 74,496,529UniSTS
GeneMap99-GB4 RH Map2240.03UniSTS
D2S1958E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,760,127 - 74,760,209UniSTSGRCh37
Build 36274,613,635 - 74,613,717RGDNCBI36
Celera274,591,235 - 74,591,317RGD
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,496,388 - 74,496,470UniSTS
RH124140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,761,269 - 74,761,505UniSTSGRCh37
GRCh37823,159,582 - 23,160,857UniSTSGRCh37
Build 36274,614,777 - 74,615,013RGDNCBI36
Celera274,592,377 - 74,592,613RGD
Celera822,122,153 - 22,123,428UniSTS
HuRef821,705,613 - 21,706,888UniSTS
HuRef274,497,530 - 74,497,766UniSTS
RH125632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,776,498 - 74,776,710UniSTSGRCh37
Build 36274,630,006 - 74,630,218RGDNCBI36
Celera274,607,606 - 74,607,818RGD
Cytogenetic Map2p13UniSTS
HuRef274,512,759 - 74,512,971UniSTS
A006U29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,760,188 - 74,760,399UniSTSGRCh37
Build 36274,613,696 - 74,613,907RGDNCBI36
Celera274,591,296 - 74,591,507RGD
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,496,449 - 74,496,660UniSTS
GeneMap99-GB4 RH Map2228.94UniSTS
LOXL3__6411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,760,098 - 74,760,751UniSTSGRCh37
Build 36274,613,606 - 74,614,259RGDNCBI36
Celera274,591,206 - 74,591,859RGD
HuRef274,496,359 - 74,497,012UniSTS
MARC_4349-4350:991938479:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,763,491 - 74,764,040UniSTSGRCh37
Build 36274,616,999 - 74,617,548RGDNCBI36
Celera274,594,599 - 74,595,148RGD
HuRef274,499,752 - 74,500,301UniSTS
Loxl3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,760,287 - 74,761,753UniSTSGRCh37
Celera274,591,395 - 74,592,861UniSTS
HuRef274,496,548 - 74,498,014UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4943 1721 2343 4 622 1940 464 2268 7272 6446 52 3709 846 1731 1610 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA554977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ378059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264094   ⟹   ENSP00000264094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,532,258 - 74,553,942 (-)Ensembl
Ensembl Acc Id: ENST00000393937   ⟹   ENSP00000377512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,533,130 - 74,553,958 (-)Ensembl
Ensembl Acc Id: ENST00000409249   ⟹   ENSP00000387103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,532,604 - 74,552,647 (-)Ensembl
Ensembl Acc Id: ENST00000409549   ⟹   ENSP00000386696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,533,253 - 74,553,084 (-)Ensembl
Ensembl Acc Id: ENST00000409986   ⟹   ENSP00000386545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,533,728 - 74,553,961 (-)Ensembl
Ensembl Acc Id: ENST00000413469   ⟹   ENSP00000398260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,536,711 - 74,555,690 (-)Ensembl
Ensembl Acc Id: ENST00000420535   ⟹   ENSP00000404026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,535,644 - 74,549,459 (-)Ensembl
Ensembl Acc Id: ENST00000470907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,532,414 - 74,549,663 (-)Ensembl
Ensembl Acc Id: ENST00000481835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,535,289 - 74,549,576 (-)Ensembl
Ensembl Acc Id: ENST00000484369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl274,539,793 - 74,552,647 (-)Ensembl
RefSeq Acc Id: NM_001289164   ⟹   NP_001276093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,553,942 (-)NCBI
HuRef274,495,646 - 74,517,352 (-)NCBI
CHM1_1274,688,781 - 74,710,486 (-)NCBI
T2T-CHM13v2.0274,540,824 - 74,562,508 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289165   ⟹   NP_001276094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,549,526 (-)NCBI
HuRef274,495,646 - 74,517,352 (-)NCBI
CHM1_1274,688,781 - 74,706,185 (-)NCBI
T2T-CHM13v2.0274,540,824 - 74,558,092 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032603   ⟹   NP_115992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,553,942 (-)NCBI
GRCh37274,759,946 - 74,781,088 (-)NCBI
Build 36274,613,454 - 74,634,570 (-)NCBI Archive
HuRef274,495,646 - 74,517,352 (-)NCBI
CHM1_1274,688,781 - 74,710,486 (-)NCBI
T2T-CHM13v2.0274,540,824 - 74,562,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533134   ⟹   XP_011531436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,555,702 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453176   ⟹   XP_024308944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,555,702 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453177   ⟹   XP_024308945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,555,702 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453178   ⟹   XP_024308946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,532,258 - 74,555,702 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054344219   ⟹   XP_054200194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0274,540,824 - 74,564,279 (-)NCBI
RefSeq Acc Id: XM_054344220   ⟹   XP_054200195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0274,540,824 - 74,564,278 (-)NCBI
RefSeq Acc Id: XM_054344221   ⟹   XP_054200196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0274,540,824 - 74,564,305 (-)NCBI
RefSeq Acc Id: XM_054344222   ⟹   XP_054200197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0274,540,824 - 74,564,295 (-)NCBI
RefSeq Acc Id: NP_115992   ⟸   NM_032603
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   Q96RS1 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276093   ⟸   NM_001289164
- Peptide Label: isoform 2 precursor
- UniProtKB: B9A025 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276094   ⟸   NM_001289165
- Peptide Label: isoform 3
- UniProtKB: P58215 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531436   ⟸   XM_011533134
- Peptide Label: isoform X1
- UniProtKB: Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   Q96RS1 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308944   ⟸   XM_024453176
- Peptide Label: isoform X1
- UniProtKB: Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   Q96RS1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308945   ⟸   XM_024453177
- Peptide Label: isoform X1
- UniProtKB: Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   Q96RS1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308946   ⟸   XM_024453178
- Peptide Label: isoform X1
- UniProtKB: Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   Q96RS1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000398260   ⟸   ENST00000413469
Ensembl Acc Id: ENSP00000377512   ⟸   ENST00000393937
Ensembl Acc Id: ENSP00000386545   ⟸   ENST00000409986
Ensembl Acc Id: ENSP00000386696   ⟸   ENST00000409549
Ensembl Acc Id: ENSP00000404026   ⟸   ENST00000420535
Ensembl Acc Id: ENSP00000387103   ⟸   ENST00000409249
Ensembl Acc Id: ENSP00000264094   ⟸   ENST00000264094
RefSeq Acc Id: XP_054200196   ⟸   XM_054344221
- Peptide Label: isoform X1
- UniProtKB: Q96RS1 (UniProtKB/Swiss-Prot),   Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200197   ⟸   XM_054344222
- Peptide Label: isoform X1
- UniProtKB: Q96RS1 (UniProtKB/Swiss-Prot),   Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200194   ⟸   XM_054344219
- Peptide Label: isoform X1
- UniProtKB: Q96RS1 (UniProtKB/Swiss-Prot),   Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200195   ⟸   XM_054344220
- Peptide Label: isoform X1
- UniProtKB: Q96RS1 (UniProtKB/Swiss-Prot),   Q6IPL7 (UniProtKB/Swiss-Prot),   Q2EHP2 (UniProtKB/Swiss-Prot),   P58215 (UniProtKB/Swiss-Prot),   D6W5J1 (UniProtKB/Swiss-Prot),   E7END4 (UniProtKB/TrEMBL)
Protein Domains
SRCR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58215-F1-model_v2 AlphaFold P58215 1-753 view protein structure

Promoters
RGD ID:6860792
Promoter ID:EPDNEW_H3561
Type:initiation region
Name:LOXL3_3
Description:lysyl oxidase like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3562  EPDNEW_H3565  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,553,124 - 74,553,184EPDNEW
RGD ID:6860794
Promoter ID:EPDNEW_H3562
Type:initiation region
Name:LOXL3_1
Description:lysyl oxidase like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3561  EPDNEW_H3565  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,553,942 - 74,554,002EPDNEW
RGD ID:6860800
Promoter ID:EPDNEW_H3565
Type:initiation region
Name:LOXL3_2
Description:lysyl oxidase like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3561  EPDNEW_H3562  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,555,702 - 74,555,762EPDNEW
RGD ID:6811915
Promoter ID:HG_ACW:44716
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:LOXL3.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,614,711 - 74,615,211 (-)MPROMDB
RGD ID:6811914
Promoter ID:HG_ACW:44717
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:LOXL3.GAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,616,111 - 74,616,767 (-)MPROMDB
RGD ID:6797769
Promoter ID:HG_KWN:33354
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000328563,   OTTHUMT00000328565,   OTTHUMT00000328566,   UC002SMO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,630,036 - 74,631,107 (-)MPROMDB
RGD ID:6797193
Promoter ID:HG_KWN:33355
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409249,   OTTHUMT00000328567,   UC010FFM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,632,966 - 74,634,452 (-)MPROMDB
RGD ID:6797103
Promoter ID:HG_KWN:33356
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409986,   OTTHUMT00000252215,   OTTHUMT00000252218,   OTTHUMT00000328559,   OTTHUMT00000328577,   OTTHUMT00000328582,   OTTHUMT00000328583,   OTTHUMT00000328584,   OTTHUMT00000328585,   OTTHUMT00000328587,   OTTHUMT00000328588,   UC002SMT.1,   UC002SMV.1,   UC002SMW.1,   UC010FFO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,634,756 - 74,635,547 (+)MPROMDB
RGD ID:6797755
Promoter ID:HG_KWN:33357
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000328564
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,636,316 - 74,636,816 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13869 AgrOrtholog
COSMIC LOXL3 COSMIC
Ensembl Genes ENSG00000115318 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264094 ENTREZGENE
  ENST00000264094.8 UniProtKB/Swiss-Prot
  ENST00000393937 ENTREZGENE
  ENST00000393937.6 UniProtKB/Swiss-Prot
  ENST00000409249.5 UniProtKB/TrEMBL
  ENST00000409549 ENTREZGENE
  ENST00000409549.5 UniProtKB/TrEMBL
  ENST00000409986.5 UniProtKB/TrEMBL
  ENST00000413469.1 UniProtKB/TrEMBL
  ENST00000420535.1 UniProtKB/TrEMBL
  ENST00000470907 ENTREZGENE
Gene3D-CATH 3.10.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115318 GTEx
HGNC ID HGNC:13869 ENTREZGENE
Human Proteome Map LOXL3 Human Proteome Map
InterPro LOX-like_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lysyl_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lysyl_oxidase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84695 UniProtKB/Swiss-Prot
NCBI Gene 84695 ENTREZGENE
OMIM 607163 OMIM
PANTHER LYSYL OXIDASE HOMOLOG 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LYSYL OXIDASE-LIKE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lysyl_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30430 PharmGKB
PRINTS LYSYLOXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERACTRCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LYSYL_OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B8ZZT6_HUMAN UniProtKB/TrEMBL
  B9A025 ENTREZGENE, UniProtKB/TrEMBL
  C9J5M1_HUMAN UniProtKB/TrEMBL
  D6W5J1 ENTREZGENE
  E7END4 ENTREZGENE, UniProtKB/TrEMBL
  H7C248_HUMAN UniProtKB/TrEMBL
  L8E911_HUMAN UniProtKB/TrEMBL
  LOXL3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2EHP2 ENTREZGENE
  Q53TY1_HUMAN UniProtKB/TrEMBL
  Q6IPL7 ENTREZGENE
  Q96RS1 ENTREZGENE
UniProt Secondary D6W5J1 UniProtKB/Swiss-Prot
  Q2EHP2 UniProtKB/Swiss-Prot
  Q6IPL7 UniProtKB/Swiss-Prot
  Q96RS1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LOXL3  lysyl oxidase like 3  LOXL3  lysyl oxidase-like 3  Symbol and/or name change 5135510 APPROVED