AMOT (angiomotin) - Rat Genome Database

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Gene: AMOT (angiomotin) Homo sapiens
Analyze
Symbol: AMOT
Name: angiomotin
RGD ID: 1344662
HGNC Page HGNC:17810
Description: Enables angiostatin binding activity; identical protein binding activity; and signaling receptor activity. Involved in negative regulation of vascular permeability and positive regulation of blood vessel endothelial cell migration. Acts upstream of or within hippo signaling; negative regulation of angiogenesis; and regulation of cell migration. Located in several cellular components, including actin cytoskeleton; bicellular tight junction; and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: angiomotin p130 isoform; angiomotin p80 isoform; KIAA1071
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X112,774,877 - 112,840,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX112,774,503 - 112,840,831 (-)EnsemblGRCh38hg38GRCh38
GRCh37X112,018,105 - 112,084,059 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X111,904,761 - 111,970,699 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X111,823,875 - 111,890,188NCBI
CeleraX112,502,736 - 112,568,672 (-)NCBICelera
Cytogenetic MapXq23NCBI
HuRefX101,645,090 - 101,710,229 (-)NCBIHuRef
CHM1_1X111,929,234 - 111,995,169 (-)NCBICHM1_1
T2T-CHM13v2.0X111,226,753 - 111,292,678 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12345   PMID:123345   PMID:10470851   PMID:11257124   PMID:11257132   PMID:12168954   PMID:12406577   PMID:12477932   PMID:12902404   PMID:14702039   PMID:15489334   PMID:15804419  
PMID:16043488   PMID:16196087   PMID:16640563   PMID:16678097   PMID:16754857   PMID:17148452   PMID:18824598   PMID:18850735   PMID:19460752   PMID:19565639   PMID:19590046   PMID:19615732  
PMID:19913121   PMID:20080965   PMID:20562859   PMID:20628086   PMID:21145461   PMID:21145499   PMID:21187284   PMID:21205866   PMID:21224387   PMID:21285250   PMID:21481793   PMID:21532586  
PMID:21832049   PMID:21873635   PMID:22268729   PMID:22385262   PMID:22939629   PMID:22948661   PMID:23389031   PMID:23414517   PMID:23443559   PMID:23564455   PMID:23588948   PMID:24003252  
PMID:24003254   PMID:24101513   PMID:24106267   PMID:24225952   PMID:24244333   PMID:24255178   PMID:24366813   PMID:24532565   PMID:24548561   PMID:24550385   PMID:24648494   PMID:24711643  
PMID:24722188   PMID:24981860   PMID:24984263   PMID:24999758   PMID:25026211   PMID:25036637   PMID:25071155   PMID:25192599   PMID:25281560   PMID:25381822   PMID:25416956   PMID:25466890  
PMID:25556234   PMID:25633977   PMID:25647626   PMID:25662211   PMID:26045165   PMID:26186194   PMID:26239614   PMID:26486328   PMID:26549023   PMID:26638075   PMID:26848622   PMID:26972000  
PMID:27173435   PMID:27432908   PMID:27462448   PMID:27498087   PMID:27503909   PMID:27505670   PMID:27521426   PMID:27609421   PMID:27779692   PMID:28052036   PMID:28464980   PMID:28514442  
PMID:28720576   PMID:28885730   PMID:29036193   PMID:29053956   PMID:29128334   PMID:29180619   PMID:29377471   PMID:29564676   PMID:29676528   PMID:29752344   PMID:29845934   PMID:29891922  
PMID:29987050   PMID:30266805   PMID:30455355   PMID:30472188   PMID:30561431   PMID:30619736   PMID:30792381   PMID:30948266   PMID:30996134   PMID:31006631   PMID:31048545   PMID:31240132  
PMID:31501420   PMID:31685992   PMID:31762063   PMID:31800378   PMID:32129710   PMID:32239614   PMID:32292505   PMID:32296183   PMID:32381509   PMID:32391793   PMID:32656583   PMID:32755583  
PMID:32963011   PMID:33058421   PMID:33109746   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34244482   PMID:34244565   PMID:34284061   PMID:34299191   PMID:34597346  
PMID:34642328   PMID:34702444   PMID:34709266   PMID:34709727   PMID:35013218   PMID:35032548   PMID:35182466   PMID:35271311   PMID:35446349   PMID:35844135   PMID:35987950   PMID:36057605  
PMID:36114006   PMID:36168627   PMID:36215168   PMID:36217029   PMID:36232890   PMID:36273042   PMID:36282215   PMID:36931259   PMID:37151849   PMID:37616343   PMID:38172120   PMID:38280479  
PMID:38360978  


Genomics

Comparative Map Data
AMOT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X112,774,877 - 112,840,831 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX112,774,503 - 112,840,831 (-)EnsemblGRCh38hg38GRCh38
GRCh37X112,018,105 - 112,084,059 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X111,904,761 - 111,970,699 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X111,823,875 - 111,890,188NCBI
CeleraX112,502,736 - 112,568,672 (-)NCBICelera
Cytogenetic MapXq23NCBI
HuRefX101,645,090 - 101,710,229 (-)NCBIHuRef
CHM1_1X111,929,234 - 111,995,169 (-)NCBICHM1_1
T2T-CHM13v2.0X111,226,753 - 111,292,678 (-)NCBIT2T-CHM13v2.0
Amot
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X144,229,420 - 144,288,145 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX144,229,421 - 144,288,177 (-)EnsemblGRCm39 Ensembl
GRCm38X145,446,424 - 145,505,966 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX145,446,425 - 145,505,181 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X141,880,967 - 141,921,589 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X140,696,313 - 140,733,414 (-)NCBIMGSCv36mm8
CeleraX129,393,202 - 129,433,781 (-)NCBICelera
Cytogenetic MapXF2NCBI
cM MapX66.72NCBI
Amot
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X113,778,990 - 113,837,846 (-)NCBIGRCr8
mRatBN7.2X108,982,399 - 109,041,265 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX108,984,022 - 109,041,272 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0X116,751,231 - 116,810,238 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX116,751,230 - 116,792,864 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X116,890,173 - 116,949,168 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X33,018,434 - 33,062,515 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX108,364,426 - 108,423,279 (-)NCBICelera
Cytogenetic MapXq34NCBI
Amot
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554902,965,539 - 3,042,606 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554902,965,899 - 3,042,541 (+)NCBIChiLan1.0ChiLan1.0
AMOT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X112,282,271 - 112,348,879 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X112,285,879 - 112,351,911 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X101,907,032 - 101,973,052 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X112,362,633 - 112,428,216 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX112,362,633 - 112,428,216 (-)Ensemblpanpan1.1panPan2
AMOT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X85,742,610 - 85,807,557 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX85,745,207 - 85,807,353 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX71,855,979 - 71,920,860 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X87,438,375 - 87,503,383 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX87,438,415 - 87,495,120 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X84,902,240 - 84,967,182 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X86,570,310 - 86,635,268 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X86,409,254 - 86,474,116 (-)NCBIUU_Cfam_GSD_1.0
Amot
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X84,996,607 - 85,063,784 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364992,594,239 - 2,661,359 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364992,594,190 - 2,661,307 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMOT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX92,582,047 - 92,647,857 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X92,581,995 - 92,647,872 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X106,946,878 - 107,012,750 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMOT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X100,520,735 - 100,578,923 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX100,520,733 - 100,578,998 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606525,874,041 - 25,941,086 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Amot
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248032,422,274 - 2,488,097 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248032,405,037 - 2,491,715 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMOT
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_133265.2(AMOT):c.-600C>T single nucleotide variant Lung cancer [RCV000102196] ChrX:112840619 [GRCh38]
ChrX:112083847 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23(chrX:111797433-113018368)x8 copy number gain See cases [RCV000139829] ChrX:111797433..113018368 [GRCh38]
ChrX:111040661..112261596 [GRCh37]
ChrX:110927317..112148252 [NCBI36]
ChrX:Xq23		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001113490.2(AMOT):c.1926G>C (p.Gln642His) single nucleotide variant Cerebral visual impairment and intellectual disability [RCV000210410] ChrX:112791832 [GRCh38]
ChrX:112035060 [GRCh37]
ChrX:Xq23		 likely pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xq23(chrX:111555207-112320992)x3 copy number gain See cases [RCV000510493] ChrX:111555207..112320992 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 copy number gain See cases [RCV000510739] ChrX:111149921..117993284 [GRCh37]
ChrX:Xq23-24		 likely pathogenic
GRCh37/hg19 Xq23(chrX:111549784-112337512)x3 copy number gain See cases [RCV000510946] ChrX:111549784..112337512 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq23(chrX:112022894-112055287)x2 copy number gain not provided [RCV000753709] ChrX:112022894..112055287 [GRCh37]
ChrX:Xq23		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23		 likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
NM_001113490.2(AMOT):c.1103G>A (p.Arg368His) single nucleotide variant not provided [RCV001573368] ChrX:112815647 [GRCh38]
ChrX:112058875 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_001113490.2(AMOT):c.2957C>T (p.Pro986Leu) single nucleotide variant Inborn genetic diseases [RCV002547309]|not provided [RCV000971710] ChrX:112779197 [GRCh38]
ChrX:112022425 [GRCh37]
ChrX:Xq23		 likely benign|uncertain significance
NM_001113490.2(AMOT):c.2695A>G (p.Thr899Ala) single nucleotide variant not provided [RCV000899942] ChrX:112779459 [GRCh38]
ChrX:112022687 [GRCh37]
ChrX:Xq23		 benign
NM_001113490.2(AMOT):c.948T>C (p.Ser316=) single nucleotide variant not provided [RCV000894180] ChrX:112815802 [GRCh38]
ChrX:112059030 [GRCh37]
ChrX:Xq23		 benign
NM_001113490.2(AMOT):c.2946G>A (p.Pro982=) single nucleotide variant not provided [RCV000909738] ChrX:112779208 [GRCh38]
ChrX:112022436 [GRCh37]
ChrX:Xq23		 benign
NM_001113490.2(AMOT):c.2683_2703del (p.Ala895_Ala901del) deletion not provided [RCV000888038] ChrX:112779451..112779471 [GRCh38]
ChrX:112022679..112022699 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001113490.2(AMOT):c.1401A>G (p.Thr467=) single nucleotide variant not provided [RCV000896723] ChrX:112811385 [GRCh38]
ChrX:112054613 [GRCh37]
ChrX:Xq23		 benign
NM_001113490.2(AMOT):c.2340G>A (p.Ser780=) single nucleotide variant not provided [RCV000958351] ChrX:112781019 [GRCh38]
ChrX:112024247 [GRCh37]
ChrX:Xq23		 benign
GRCh37/hg19 Xq23(chrX:111950034-112040588)x3 copy number gain not provided [RCV000849074] ChrX:111950034..112040588 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001113490.2(AMOT):c.1614G>A (p.Ser538=) single nucleotide variant not provided [RCV000964272] ChrX:112809910 [GRCh38]
ChrX:112053138 [GRCh37]
ChrX:Xq23		 benign
NM_001113490.2(AMOT):c.2501C>A (p.Ala834Asp) single nucleotide variant not provided [RCV000887645] ChrX:112779653 [GRCh38]
ChrX:112022881 [GRCh37]
ChrX:Xq23		 likely benign
NM_001113490.2(AMOT):c.3095C>T (p.Ala1032Val) single nucleotide variant not provided [RCV000962803] ChrX:112779059 [GRCh38]
ChrX:112022287 [GRCh37]
ChrX:Xq23		 benign
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 copy number gain not provided [RCV001795543] ChrX:104782507..112949573 [GRCh37]
ChrX:Xq22.3-23		 likely pathogenic
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) copy number gain not specified [RCV002053166] ChrX:101982475..116885339 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
GRCh37/hg19 Xq23(chrX:111733713-113039326)x2 copy number gain not provided [RCV001827797] ChrX:111733713..113039326 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_001113490.2(AMOT):c.788A>G (p.Tyr263Cys) single nucleotide variant Inborn genetic diseases [RCV003300119] ChrX:112822339 [GRCh38]
ChrX:112065567 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
NM_001113490.2(AMOT):c.1601G>A (p.Arg534Lys) single nucleotide variant Inborn genetic diseases [RCV002907186] ChrX:112809923 [GRCh38]
ChrX:112053151 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.3067G>C (p.Ala1023Pro) single nucleotide variant Inborn genetic diseases [RCV002841304] ChrX:112779087 [GRCh38]
ChrX:112022315 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1295C>G (p.Ser432Cys) single nucleotide variant Inborn genetic diseases [RCV002991192] ChrX:112815455 [GRCh38]
ChrX:112058683 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1228A>G (p.Met410Val) single nucleotide variant Inborn genetic diseases [RCV002879771] ChrX:112815522 [GRCh38]
ChrX:112058750 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1784A>G (p.Lys595Arg) single nucleotide variant Inborn genetic diseases [RCV002684965] ChrX:112791974 [GRCh38]
ChrX:112035202 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1531C>A (p.Leu511Met) single nucleotide variant Inborn genetic diseases [RCV002844316] ChrX:112811255 [GRCh38]
ChrX:112054483 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.70C>T (p.Arg24Cys) single nucleotide variant Inborn genetic diseases [RCV002830752] ChrX:112823057 [GRCh38]
ChrX:112066285 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1414G>C (p.Val472Leu) single nucleotide variant Inborn genetic diseases [RCV002696804] ChrX:112811372 [GRCh38]
ChrX:112054600 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.947C>T (p.Ser316Phe) single nucleotide variant Inborn genetic diseases [RCV002875416] ChrX:112815803 [GRCh38]
ChrX:112059031 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1505G>A (p.Arg502Gln) single nucleotide variant Inborn genetic diseases [RCV002896332] ChrX:112811281 [GRCh38]
ChrX:112054509 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.199C>G (p.His67Asp) single nucleotide variant Inborn genetic diseases [RCV003200054] ChrX:112822928 [GRCh38]
ChrX:112066156 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.3160G>C (p.Gly1054Arg) single nucleotide variant Inborn genetic diseases [RCV003218011] ChrX:112778662 [GRCh38]
ChrX:112021890 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1327G>A (p.Asp443Asn) single nucleotide variant Inborn genetic diseases [RCV003259878] ChrX:112815423 [GRCh38]
ChrX:112058651 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1525A>G (p.Arg509Gly) single nucleotide variant Inborn genetic diseases [RCV003262068] ChrX:112811261 [GRCh38]
ChrX:112054489 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.3043_3044delinsT (p.Ala1015fs) indel not provided [RCV003336038] ChrX:112779110..112779111 [GRCh38]
ChrX:112022338..112022339 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.2338T>A (p.Ser780Thr) single nucleotide variant Inborn genetic diseases [RCV003345347] ChrX:112781021 [GRCh38]
ChrX:112024249 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.3192A>C (p.Arg1064Ser) single nucleotide variant Inborn genetic diseases [RCV003374786] ChrX:112778630 [GRCh38]
ChrX:112021858 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2 copy number gain not provided [RCV003483973] ChrX:110921170..124327177 [GRCh37]
ChrX:Xq23-25		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23(chrX:112652226-112920773)x0 copy number loss See cases [RCV000139785] ChrX:112652226..112920773 [GRCh38]
ChrX:111895454..112164001 [GRCh37]
ChrX:111782110..112050657 [NCBI36]
ChrX:Xq23		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_001113490.2(AMOT):c.3064G>C (p.Val1022Leu) single nucleotide variant Inborn genetic diseases [RCV003299334] ChrX:112779090 [GRCh38]
ChrX:112022318 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001113490.2(AMOT):c.2738_2764del (p.Val913_Pro921del) deletion not provided [RCV000950503] ChrX:112779390..112779416 [GRCh38]
ChrX:112022618..112022644 [GRCh37]
ChrX:Xq23		 benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_001113490.2(AMOT):c.1438G>C (p.Val480Leu) single nucleotide variant Inborn genetic diseases [RCV002906954] ChrX:112811348 [GRCh38]
ChrX:112054576 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.2884T>G (p.Ser962Ala) single nucleotide variant Inborn genetic diseases [RCV002768225] ChrX:112779270 [GRCh38]
ChrX:112022498 [GRCh37]
ChrX:Xq23		 likely benign
NM_001113490.2(AMOT):c.38C>T (p.Thr13Met) single nucleotide variant Inborn genetic diseases [RCV002767855] ChrX:112823089 [GRCh38]
ChrX:112066317 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1084C>T (p.His362Tyr) single nucleotide variant Inborn genetic diseases [RCV003217929] ChrX:112815666 [GRCh38]
ChrX:112058894 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.2339C>T (p.Ser780Leu) single nucleotide variant Inborn genetic diseases [RCV003340389] ChrX:112781020 [GRCh38]
ChrX:112024248 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.3172C>T (p.His1058Tyr) single nucleotide variant Inborn genetic diseases [RCV003358811] ChrX:112778650 [GRCh38]
ChrX:112021878 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.1379C>G (p.Ala460Gly) single nucleotide variant Inborn genetic diseases [RCV003363462] ChrX:112815371 [GRCh38]
ChrX:112058599 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.395A>G (p.Tyr132Cys) single nucleotide variant Inborn genetic diseases [RCV003383496] ChrX:112822732 [GRCh38]
ChrX:112065960 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_001113490.2(AMOT):c.2738T>C (p.Val913Ala) single nucleotide variant not provided [RCV003432401] ChrX:112779416 [GRCh38]
ChrX:112022644 [GRCh37]
ChrX:Xq23		 likely benign
NM_001113490.2(AMOT):c.1329C>T (p.Asp443=) single nucleotide variant not provided [RCV003432403] ChrX:112815421 [GRCh38]
ChrX:112058649 [GRCh37]
ChrX:Xq23		 likely benign
NM_001113490.2(AMOT):c.2751T>C (p.Ala917=) single nucleotide variant not provided [RCV003432400] ChrX:112779403 [GRCh38]
ChrX:112022631 [GRCh37]
ChrX:Xq23		 likely benign
NM_001113490.2(AMOT):c.2683G>A (p.Ala895Thr) single nucleotide variant not provided [RCV003432402] ChrX:112779471 [GRCh38]
ChrX:112022699 [GRCh37]
ChrX:Xq23		 likely benign
NM_001113490.2(AMOT):c.3023C>T (p.Pro1008Leu) single nucleotide variant not provided [RCV003432399] ChrX:112779131 [GRCh38]
ChrX:112022359 [GRCh37]
ChrX:Xq23		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6042
Count of miRNA genes:1407
Interacting mature miRNAs:1877
Transcripts:ENST00000304758, ENST00000371958, ENST00000371959, ENST00000371962, ENST00000462114, ENST00000524145
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
G31118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,018,307 - 112,018,452UniSTSGRCh37
Build 36X111,904,963 - 111,905,108RGDNCBI36
CeleraX112,502,938 - 112,503,083RGD
Cytogenetic MapXq23UniSTS
HuRefX101,645,292 - 101,645,437UniSTS
WI-13613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,018,125 - 112,018,249UniSTSGRCh37
Build 36X111,904,781 - 111,904,905RGDNCBI36
CeleraX112,502,756 - 112,502,880RGD
Cytogenetic MapXq23UniSTS
HuRefX101,645,110 - 101,645,234UniSTS
GeneMap99-GB4 RH MapX287.57UniSTS
Whitehead-RH MapX266.5UniSTS
NCBI RH MapX561.2UniSTS
AL035157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,062,291 - 112,062,411UniSTSGRCh37
Build 36X111,948,947 - 111,949,067RGDNCBI36
CeleraX112,546,922 - 112,547,042RGD
Cytogenetic MapXq23UniSTS
HuRefX101,688,727 - 101,688,847UniSTS
AMOT_3722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,017,705 - 112,018,569UniSTSGRCh37
Build 36X111,904,361 - 111,905,225RGDNCBI36
CeleraX112,502,336 - 112,503,200RGD
HuRefX101,644,690 - 101,645,554UniSTS
AFMa275zc9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,048,469 - 112,048,723UniSTSGRCh37
Build 36X111,935,125 - 111,935,379RGDNCBI36
CeleraX112,533,100 - 112,533,354RGD
Cytogenetic MapXq23UniSTS
HuRefX101,674,984 - 101,675,238UniSTS
Whitehead-RH MapX266.5UniSTS
NCBI RH MapX561.2UniSTS
G16015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,058,708 - 112,058,857UniSTSGRCh37
Build 36X111,945,364 - 111,945,513RGDNCBI36
CeleraX112,543,339 - 112,543,488RGD
Cytogenetic MapXq23UniSTS
HuRefX101,685,144 - 101,685,293UniSTS
AMOT  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X112,083,826 - 112,083,984UniSTSGRCh37
CeleraX112,568,455 - 112,568,613UniSTS
HuRefX101,710,012 - 101,710,170UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 141 84 229 81 57 15 974 558 2110 148 323 135 69 31 803 4
Low 2270 2145 1391 465 923 372 3375 1572 1617 252 1106 1409 99 1 1171 1985 1 1
Below cutoff 15 757 99 73 892 73 4 61 7 16 22 40 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF286598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY987378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000304758   ⟹   ENSP00000305557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX112,774,503 - 112,840,815 (-)Ensembl
RefSeq Acc Id: ENST00000371958   ⟹   ENSP00000361026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX112,780,355 - 112,822,584 (-)Ensembl
RefSeq Acc Id: ENST00000371959   ⟹   ENSP00000361027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX112,774,877 - 112,840,831 (-)Ensembl
RefSeq Acc Id: ENST00000371962   ⟹   ENSP00000361030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX112,778,512 - 112,822,536 (-)Ensembl
RefSeq Acc Id: ENST00000462114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX112,823,137 - 112,840,683 (-)Ensembl
RefSeq Acc Id: ENST00000524145   ⟹   ENSP00000429013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX112,778,567 - 112,825,128 (-)Ensembl
RefSeq Acc Id: NM_001113490   ⟹   NP_001106962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
GRCh37X112,018,105 - 112,084,136 (-)NCBI
HuRefX101,645,090 - 101,710,229 (-)ENTREZGENE
CHM1_1X111,929,234 - 111,977,479 (-)NCBI
T2T-CHM13v2.0X111,226,753 - 111,292,678 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386998   ⟹   NP_001373927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
T2T-CHM13v2.0X111,226,753 - 111,292,678 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001386999   ⟹   NP_001373928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
T2T-CHM13v2.0X111,226,753 - 111,292,678 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133265   ⟹   NP_573572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
GRCh37X112,018,105 - 112,084,136 (-)NCBI
Build 36X111,904,761 - 111,970,699 (-)NCBI Archive
HuRefX101,645,090 - 101,710,229 (-)ENTREZGENE
CHM1_1X111,929,234 - 111,995,169 (-)NCBI
T2T-CHM13v2.0X111,226,753 - 111,292,678 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262090   ⟹   XP_005262147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,819,438 (-)NCBI
GRCh37X112,018,105 - 112,084,136 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441856   ⟹   XP_047297812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,840,831 (-)NCBI
RefSeq Acc Id: XM_047441857   ⟹   XP_047297813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,774,877 - 112,839,950 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_573572   ⟸   NM_133265
- Peptide Label: isoform 2
- UniProtKB: A2BDD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001106962   ⟸   NM_001113490
- Peptide Label: isoform 1
- UniProtKB: Q9HD27 (UniProtKB/Swiss-Prot),   Q504X5 (UniProtKB/Swiss-Prot),   Q9UPT1 (UniProtKB/Swiss-Prot),   Q4VCS5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262147   ⟸   XM_005262090
- Peptide Label: isoform X2
- UniProtKB: A2BDD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361026   ⟸   ENST00000371958
RefSeq Acc Id: ENSP00000361027   ⟸   ENST00000371959
RefSeq Acc Id: ENSP00000361030   ⟸   ENST00000371962
RefSeq Acc Id: ENSP00000429013   ⟸   ENST00000524145
RefSeq Acc Id: ENSP00000305557   ⟸   ENST00000304758
RefSeq Acc Id: NP_001373927   ⟸   NM_001386998
- Peptide Label: isoform 1
- UniProtKB: Q9HD27 (UniProtKB/Swiss-Prot),   Q504X5 (UniProtKB/Swiss-Prot),   Q4VCS5 (UniProtKB/Swiss-Prot),   Q9UPT1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001373928   ⟸   NM_001386999
- Peptide Label: isoform 1
- UniProtKB: Q9HD27 (UniProtKB/Swiss-Prot),   Q504X5 (UniProtKB/Swiss-Prot),   Q4VCS5 (UniProtKB/Swiss-Prot),   Q9UPT1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047297812   ⟸   XM_047441856
- Peptide Label: isoform X1
- UniProtKB: Q9HD27 (UniProtKB/Swiss-Prot),   Q504X5 (UniProtKB/Swiss-Prot),   Q4VCS5 (UniProtKB/Swiss-Prot),   Q9UPT1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047297813   ⟸   XM_047441857
- Peptide Label: isoform X1
- UniProtKB: Q9HD27 (UniProtKB/Swiss-Prot),   Q504X5 (UniProtKB/Swiss-Prot),   Q4VCS5 (UniProtKB/Swiss-Prot),   Q9UPT1 (UniProtKB/Swiss-Prot)
Protein Domains
Angiomotin C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4VCS5-F1-model_v2 AlphaFold Q4VCS5 1-1084 view protein structure

Promoters
RGD ID:6808480
Promoter ID:HG_KWN:67794
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000304758,   OTTHUMT00000057951
Position:
Human AssemblyChrPosition (strand)Source
Build 36X111,970,346 - 111,971,162 (-)MPROMDB
RGD ID:13627892
Promoter ID:EPDNEW_H29221
Type:initiation region
Name:AMOT_3
Description:angiomotin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29222  EPDNEW_H29223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,823,209 - 112,823,269EPDNEW
RGD ID:13627894
Promoter ID:EPDNEW_H29222
Type:initiation region
Name:AMOT_2
Description:angiomotin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29221  EPDNEW_H29223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,840,470 - 112,840,530EPDNEW
RGD ID:13627896
Promoter ID:EPDNEW_H29223
Type:initiation region
Name:AMOT_1
Description:angiomotin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29221  EPDNEW_H29222  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X112,840,830 - 112,840,890EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17810 AgrOrtholog
COSMIC AMOT COSMIC
Ensembl Genes ENSG00000126016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304758 ENTREZGENE
  ENST00000304758.5 UniProtKB/Swiss-Prot
  ENST00000371958.1 UniProtKB/TrEMBL
  ENST00000371959 ENTREZGENE
  ENST00000371959.9 UniProtKB/Swiss-Prot
  ENST00000371962.5 UniProtKB/TrEMBL
GTEx ENSG00000126016 GTEx
HGNC ID HGNC:17810 ENTREZGENE
Human Proteome Map AMOT Human Proteome Map
InterPro Angiomotin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Angiomotin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:154796 UniProtKB/Swiss-Prot
NCBI Gene 154796 ENTREZGENE
OMIM 300410 OMIM
PANTHER ANGIOMOTIN UniProtKB/Swiss-Prot
  ANGIOMOTIN UniProtKB/Swiss-Prot
  ANGIOMOTIN UniProtKB/TrEMBL
  ANGIOMOTIN UniProtKB/TrEMBL
Pfam Angiomotin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24773 PharmGKB
PRINTS ANGIOMOTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2BDD9 ENTREZGENE, UniProtKB/TrEMBL
  A6NP16_HUMAN UniProtKB/TrEMBL
  AMOT_HUMAN UniProtKB/Swiss-Prot
  E7ERM3_HUMAN UniProtKB/TrEMBL
  Q4VCS5 ENTREZGENE
  Q504X5 ENTREZGENE
  Q9HD27 ENTREZGENE
  Q9UPT1 ENTREZGENE
UniProt Secondary Q504X5 UniProtKB/Swiss-Prot
  Q9HD27 UniProtKB/Swiss-Prot
  Q9UPT1 UniProtKB/Swiss-Prot