MNX1 (motor neuron and pancreas homeobox 1) - Rat Genome Database

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Gene: MNX1 (motor neuron and pancreas homeobox 1) Homo sapiens
Analyze
Symbol: MNX1
Name: motor neuron and pancreas homeobox 1
RGD ID: 1344566
HGNC Page HGNC:4979
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in endocrine pancreas development; neuron projection morphogenesis; and spinal cord motor neuron cell fate specification. Predicted to act upstream of or within several processes, including diaphragm development; nervous system development; and pancreas development. Located in cytosol; nucleolus; and nucleoplasm. Implicated in Currarino syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HB9; HLXB9; homeo box hb9; homeobox HB9; homeobox protein HB9; HOXHB9; motor neuron and pancreas homeobox protein 1; SCRA1
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
GRCh387157,004,854 - 157,010,663 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7156,994,051 - 157,010,663 (-)EnsemblGRCh38hg38GRCh38
GRCh377156,797,548 - 156,803,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367156,490,308 - 156,496,108 (-)NCBINCBI36Build 36hg18NCBI36
Build 347156,297,022 - 156,302,701NCBI
Celera7151,224,648 - 151,230,448 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7150,530,222 - 150,535,994 (-)NCBIHuRef
CHM1_17156,806,166 - 156,811,852 (-)NCBICHM1_1
T2T-CHM13v2.07158,192,588 - 158,198,404 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27156,026,905 - 156,032,706 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA,ISO)
cytosol  (IDA)
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1677181   PMID:1712647   PMID:7550324   PMID:7914194   PMID:9843207   PMID:10329000   PMID:10631160   PMID:10749657   PMID:11528505   PMID:11940082   PMID:15772702   PMID:15790807  
PMID:15839736   PMID:15998911   PMID:16498628   PMID:16646086   PMID:17612791   PMID:18449898   PMID:18940475   PMID:19212340   PMID:19274049   PMID:19446746   PMID:19853743   PMID:20146075  
PMID:21069786   PMID:21145461   PMID:21763840   PMID:21873635   PMID:21960426   PMID:22820079   PMID:23048027   PMID:23370340   PMID:24095820   PMID:24411943   PMID:24425879   PMID:25136833  
PMID:26801823   PMID:27578002   PMID:27609421   PMID:28414551   PMID:28473536   PMID:28611045   PMID:29117863   PMID:29401559   PMID:29678219   PMID:30021884   PMID:30066929   PMID:30093397  
PMID:30585729   PMID:30614606   PMID:30821221   PMID:31436258   PMID:31646549   PMID:32571425   PMID:33590038   PMID:33602141   PMID:33650152   PMID:34079125   PMID:34953915   PMID:35140242  
PMID:35583991   PMID:36429006   PMID:37317878   PMID:38297188  


Genomics

Comparative Map Data
MNX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387157,004,854 - 157,010,663 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7156,994,051 - 157,010,663 (-)EnsemblGRCh38hg38GRCh38
GRCh377156,797,548 - 156,803,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367156,490,308 - 156,496,108 (-)NCBINCBI36Build 36hg18NCBI36
Build 347156,297,022 - 156,302,701NCBI
Celera7151,224,648 - 151,230,448 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7150,530,222 - 150,535,994 (-)NCBIHuRef
CHM1_17156,806,166 - 156,811,852 (-)NCBICHM1_1
T2T-CHM13v2.07158,192,588 - 158,198,404 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27156,026,905 - 156,032,706 (-)NCBI
Mnx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39529,678,821 - 29,683,468 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl529,678,032 - 29,683,468 (-)EnsemblGRCm39 Ensembl
GRCm38529,473,823 - 29,478,470 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl529,473,034 - 29,478,470 (-)EnsemblGRCm38mm10GRCm38
MGSCv37529,800,363 - 29,805,010 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36529,804,048 - 29,809,257 (-)NCBIMGSCv36mm8
Celera526,989,654 - 26,994,301 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map515.04NCBI
Mnx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr846,541,645 - 6,546,604 (+)NCBIGRCr8
mRatBN7.245,866,506 - 5,871,465 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl45,866,506 - 5,871,465 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx410,856,173 - 10,861,140 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.046,670,400 - 6,675,367 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.045,016,546 - 5,021,513 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.042,376,350 - 2,381,308 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl42,376,958 - 2,381,271 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.042,429,079 - 2,434,037 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera44,454,706 - 4,459,663 (-)NCBICelera
Cytogenetic Map4q11NCBI
Mnx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495557951,862 - 74,985 (-)NCBIChiLan1.0ChiLan1.0
MNX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26193,448,513 - 193,454,336 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1745,458,777 - 45,464,600 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07148,622,701 - 148,628,532 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MNX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11619,509,038 - 19,514,378 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1619,499,582 - 19,512,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1620,141,662 - 20,146,919 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01621,239,737 - 21,244,998 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1621,239,740 - 21,244,998 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11619,608,498 - 19,613,752 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01620,190,938 - 20,196,192 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01620,243,410 - 20,248,673 (-)NCBIUU_Cfam_GSD_1.0
Mnx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051181,889,985 - 1,895,254 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936797618,696 - 623,219 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MNX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl181,725,244 - 1,730,878 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1181,724,930 - 1,730,724 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2181,693,453 - 1,699,167 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MNX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121125,132,517 - 125,138,520 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21125,133,194 - 125,138,217 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607221,366,924 - 21,372,944 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mnx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248001,426,998 - 1,431,631 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248001,426,773 - 1,431,510 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MNX1
231 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005515.4(MNX1):c.570del (p.Gly191fs) deletion Currarino triad [RCV000015975] Chr7:157009781 [GRCh38]
Chr7:156802475 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.340del (p.His114fs) deletion Currarino triad [RCV000015977] Chr7:157010011 [GRCh38]
Chr7:156802705 [GRCh37]
Chr7:7q36.3		 pathogenic
MNX1, 1-BP INS, 125C insertion Currarino triad [RCV000015979] Chr7:7q36 pathogenic
NM_005515.4(MNX1):c.853-2A>G single nucleotide variant Currarino triad [RCV000015980] Chr7:157005875 [GRCh38]
Chr7:156798569 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.852+1G>A single nucleotide variant Currarino triad [RCV000015981] Chr7:157006478 [GRCh38]
Chr7:156799172 [GRCh37]
Chr7:7q36.3		 pathogenic|likely pathogenic
MNX1, 24-BP DEL/2-BP INS, NT577 indel Currarino triad [RCV000015983] Chr7:7q36 pathogenic
NM_005515.4(MNX1):c.375CGC[7] (p.Ala133_Ala134del) microsatellite not provided [RCV000722943] Chr7:157009950..157009955 [GRCh38]
Chr7:156802644..156802649 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_005515.4(MNX1):c.77del (p.Ala26fs) deletion not provided [RCV000520342] Chr7:157010274 [GRCh38]
Chr7:156802968 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.775C>T (p.Gln259Ter) single nucleotide variant Currarino triad [RCV000015976] Chr7:157006556 [GRCh38]
Chr7:156799250 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.492C>A (p.Tyr164Ter) single nucleotide variant Currarino triad [RCV000015978] Chr7:157009859 [GRCh38]
Chr7:156802553 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.736A>T (p.Thr246Ser) single nucleotide variant Currarino triad [RCV000015982] Chr7:157006595 [GRCh38]
Chr7:156799289 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.844G>T (p.Glu282Ter) single nucleotide variant Currarino triad [RCV000015984] Chr7:157006487 [GRCh38]
Chr7:156799181 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1 copy number loss See cases [RCV000050856] Chr7:155007022..159135526 [GRCh38]
Chr7:154798732..158928217 [GRCh37]
Chr7:154429665..158620978 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1 copy number loss See cases [RCV000054190] Chr7:152332476..159296617 [GRCh38]
Chr7:152029561..159089306 [GRCh37]
Chr7:151660494..158782067 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1 copy number loss See cases [RCV000054191] Chr7:152918472..159307523 [GRCh38]
Chr7:152615557..159100212 [GRCh37]
Chr7:152246490..158792973 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1 copy number loss See cases [RCV000054192] Chr7:152920128..159332714 [GRCh38]
Chr7:152617213..159125404 [GRCh37]
Chr7:152248146..158818165 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:153833092-159282531)x1 copy number loss See cases [RCV000054193] Chr7:153833092..159282531 [GRCh38]
Chr7:153530177..159075220 [GRCh37]
Chr7:153161110..158767981 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:156544324-159325876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054194]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054194]|See cases [RCV000054194] Chr7:156544324..159325876 [GRCh38]
Chr7:156337018..159118566 [GRCh37]
Chr7:156029779..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1 copy number loss See cases [RCV000135826] Chr7:153908499..159325876 [GRCh38]
Chr7:153605584..159118566 [GRCh37]
Chr7:153236517..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1 copy number loss See cases [RCV000135662] Chr7:155501171..159325876 [GRCh38]
Chr7:155293866..159118566 [GRCh37]
Chr7:154986627..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1 copy number loss See cases [RCV000136125] Chr7:151378879..158923762 [GRCh38]
Chr7:151075965..158716453 [GRCh37]
Chr7:150706898..158409214 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic|benign
GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1 copy number loss See cases [RCV000136143] Chr7:152860576..159325876 [GRCh38]
Chr7:152557661..159118566 [GRCh37]
Chr7:152188594..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1 copy number loss See cases [RCV000136593] Chr7:154939710..159325876 [GRCh38]
Chr7:154731420..159118566 [GRCh37]
Chr7:154362353..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:156994164-157006848)x3 copy number gain See cases [RCV000136024] Chr7:156994164..157006848 [GRCh38]
Chr7:156786858..156799542 [GRCh37]
Chr7:156479619..156492303 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1 copy number loss See cases [RCV000136940] Chr7:152807205..159325876 [GRCh38]
Chr7:152504290..159118566 [GRCh37]
Chr7:152135223..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3 copy number gain See cases [RCV000138167] Chr7:155379296..159335866 [GRCh38]
Chr7:155171991..159128556 [GRCh37]
Chr7:154864752..158821317 [NCBI36]
Chr7:7q36.3		 likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3 copy number gain See cases [RCV000139725] Chr7:152428852..159335865 [GRCh38]
Chr7:152125937..159128555 [GRCh37]
Chr7:151756870..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1 copy number loss See cases [RCV000141247] Chr7:155574967..159335866 [GRCh38]
Chr7:155367662..159128556 [GRCh37]
Chr7:155060423..158821317 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1 copy number loss See cases [RCV000142635] Chr7:155262313..159117047 [GRCh38]
Chr7:155054023..158909738 [GRCh37]
Chr7:154684956..158602499 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_005515.4(MNX1):c.375CGC[11] (p.Ala133_Ala134dup) microsatellite not provided [RCV000947089]|not specified [RCV000193236] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_005515.4(MNX1):c.375CGC[10] (p.Ala134dup) microsatellite not provided [RCV002056998]|not specified [RCV000194477] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 benign|likely benign
GRCh37/hg19 7q36.3(chr7:156411559-157009298)x3 copy number gain See cases [RCV000449024] Chr7:156411559..157009298 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:156431577-157598312)x1 copy number loss See cases [RCV000240340] Chr7:156431577..157598312 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.325_337del (p.Gly109fs) deletion not provided [RCV000519925] Chr7:157010014..157010026 [GRCh38]
Chr7:156802708..156802720 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.375CGC[8] (p.Ala134del) microsatellite not provided [RCV000722932] Chr7:157009950..157009952 [GRCh38]
Chr7:156802644..156802646 [GRCh37]
Chr7:7q36.3		 benign|likely benign|uncertain significance
GRCh37/hg19 7q36.2-36.3(chr7:153007287-158090794)x1 copy number loss See cases [RCV000449257] Chr7:153007287..158090794 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156754813-156797723)x3 copy number gain See cases [RCV000445843] Chr7:156754813..156797723 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1 copy number loss See cases [RCV000512112] Chr7:151167135..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn) single nucleotide variant Inborn genetic diseases [RCV001266284]|not provided [RCV000479220] Chr7:157005841 [GRCh38]
Chr7:156798535 [GRCh37]
Chr7:7q36.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005515.4(MNX1):c.811del (p.Arg271fs) deletion not provided [RCV000487416] Chr7:157006520 [GRCh38]
Chr7:156799214 [GRCh37]
Chr7:7q36.3		 likely pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_005515.4(MNX1):c.975G>A (p.Ala325=) single nucleotide variant not provided [RCV002524228]|not specified [RCV000500927] Chr7:157005751 [GRCh38]
Chr7:156798445 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005515.4(MNX1):c.53dup (p.Arg19fs) duplication Currarino triad [RCV000504393]|not provided [RCV003558415] Chr7:157010297..157010298 [GRCh38]
Chr7:156802991..156802992 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.853-4G>T single nucleotide variant Currarino triad [RCV002496954]|not provided [RCV002060132]|not specified [RCV000502072] Chr7:157005877 [GRCh38]
Chr7:156798571 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q36.2-36.3(chr7:154963758-157582526)x3 copy number gain See cases [RCV000510598] Chr7:154963758..157582526 [GRCh37]
Chr7:7q36.2-36.3		 likely pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156320289-159119707)x3 copy number gain See cases [RCV000511617] Chr7:156320289..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3 copy number gain See cases [RCV000511775] Chr7:151566053..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
GRCh37/hg19 7q36.3(chr7:156656444-156866708) copy number gain Epicanthus [RCV000626541] Chr7:156656444..156866708 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.601A>G (p.Ile201Val) single nucleotide variant Inborn genetic diseases [RCV003253656] Chr7:157009750 [GRCh38]
Chr7:156802444 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1 copy number loss not provided [RCV000682907] Chr7:153958355..159119707 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NC_000007.14:g.(?_152454659)_(158705768_?)del deletion Autism [RCV000754327] Chr7:152454659..158705768 [GRCh38]
Chr7:7q36.1-36.3		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:155975007-157233868)x3 copy number gain not provided [RCV000747184] Chr7:155975007..157233868 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.691+693G>C single nucleotide variant not provided [RCV001644208] Chr7:157008967 [GRCh38]
Chr7:156801661 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156629234-159119707)x1 copy number loss not provided [RCV000847648] Chr7:156629234..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_005515.4(MNX1):c.116_117del (p.Ser39fs) deletion not provided [RCV001009229] Chr7:157010234..157010235 [GRCh38]
Chr7:156802928..156802929 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_005515.4(MNX1):c.678G>A (p.Met226Ile) single nucleotide variant Inborn genetic diseases [RCV003250230] Chr7:157009673 [GRCh38]
Chr7:156802367 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1 copy number loss Microcephaly [RCV002284311] Chr7:155389460..157960969 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.691+888A>T single nucleotide variant not provided [RCV001674670] Chr7:157008772 [GRCh38]
Chr7:156801466 [GRCh37]
Chr7:7q36.3		 benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_005515.4(MNX1):c.*232G>A single nucleotide variant not provided [RCV001659311] Chr7:157005288 [GRCh38]
Chr7:156797982 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.*322C>A single nucleotide variant not provided [RCV001565006] Chr7:157005198 [GRCh38]
Chr7:156797892 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.853-137T>C single nucleotide variant not provided [RCV001641546] Chr7:157006010 [GRCh38]
Chr7:156798704 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_005515.4(MNX1):c.852+92A>G single nucleotide variant not provided [RCV001635614] Chr7:157006387 [GRCh38]
Chr7:156799081 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.-293C>G single nucleotide variant not provided [RCV001671217] Chr7:157010643 [GRCh38]
Chr7:156803337 [GRCh37]
Chr7:7q36.3		 benign
NC_000007.14:g.157010742C>T single nucleotide variant not provided [RCV001615750] Chr7:157010742 [GRCh38]
Chr7:156803436 [GRCh37]
Chr7:7q36.3		 benign
NR_038835.1(MNX1-AS1):n.11del deletion not provided [RCV001649445] Chr7:157010866 [GRCh38]
Chr7:156803560 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.*165dup duplication not provided [RCV001679187] Chr7:157005354..157005355 [GRCh38]
Chr7:156798048..156798049 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del) microsatellite Currarino triad [RCV002495953]|not provided [RCV001589927] Chr7:157010036..157010038 [GRCh38]
Chr7:156802730..156802732 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
NM_005515.4(MNX1):c.108C>T (p.Ala36=) single nucleotide variant not provided [RCV003106802] Chr7:157010243 [GRCh38]
Chr7:156802937 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q36.3(chr7:155319280-159119707)x1 copy number loss not provided [RCV001259466] Chr7:155319280..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.403_404insCCGCCG (p.Ala133_Ala134dup) insertion Currarino triad [RCV001535761]|not provided [RCV002071912] Chr7:157009947..157009948 [GRCh38]
Chr7:156802641..156802642 [GRCh37]
Chr7:7q36.3		 benign|not provided
GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1 copy number loss See cases [RCV001263034] Chr7:152800000..159138663 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic|uncertain significance
NM_005515.4(MNX1):c.509C>G (p.Ala170Gly) single nucleotide variant Currarino triad [RCV002499707]|Inborn genetic diseases [RCV003355422]|not provided [RCV001352428] Chr7:157009842 [GRCh38]
Chr7:156802536 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1037G>T (p.Arg346Leu) single nucleotide variant not provided [RCV001355641] Chr7:157005689 [GRCh38]
Chr7:156798383 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.-285C>G single nucleotide variant not provided [RCV001667289] Chr7:157010635 [GRCh38]
Chr7:156803329 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.691+654C>A single nucleotide variant not provided [RCV001673572] Chr7:157009006 [GRCh38]
Chr7:156801700 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.691+430C>T single nucleotide variant not provided [RCV001715916] Chr7:157009230 [GRCh38]
Chr7:156801924 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.852+277C>A single nucleotide variant not provided [RCV001715919] Chr7:157006202 [GRCh38]
Chr7:156798896 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.375CGC[13] (p.Ala131_Ala134dup) microsatellite not provided [RCV001518668] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.357G>T (p.Pro119=) single nucleotide variant not provided [RCV001523419] Chr7:157009994 [GRCh38]
Chr7:156802688 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.375CGC[12] (p.Ala132_Ala134dup) microsatellite not provided [RCV001521946] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.407G>A (p.Gly136Asp) single nucleotide variant not provided [RCV003108764] Chr7:157009944 [GRCh38]
Chr7:156802638 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.488_494dup (p.Tyr166fs) duplication Currarino triad [RCV002273137] Chr7:157009856..157009857 [GRCh38]
Chr7:156802550..156802551 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.576GCACCCCGC[1] (p.193HPA[1]) microsatellite not provided [RCV001761215] Chr7:157009758..157009766 [GRCh38]
Chr7:156802452..156802460 [GRCh37]
Chr7:7q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe) single nucleotide variant not provided [RCV001771256] Chr7:157006499 [GRCh38]
Chr7:156799193 [GRCh37]
Chr7:7q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_005515.4(MNX1):c.780C>A (p.Phe260Leu) single nucleotide variant not provided [RCV001817460] Chr7:157006551 [GRCh38]
Chr7:156799245 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.830C>G (p.Ser277Trp) single nucleotide variant not provided [RCV001816490] Chr7:157006501 [GRCh38]
Chr7:156799195 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.874C>T (p.Arg292Trp) single nucleotide variant not provided [RCV001817743] Chr7:157005852 [GRCh38]
Chr7:156798546 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.752del (p.Gln251fs) deletion not provided [RCV001817755] Chr7:157006579 [GRCh38]
Chr7:156799273 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_005515.4(MNX1):c.372_386del (p.Ala130_Ala134del) deletion not provided [RCV002025732] Chr7:157009965..157009979 [GRCh38]
Chr7:156802659..156802673 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.274C>T (p.Pro92Ser) single nucleotide variant Inborn genetic diseases [RCV002545357]|not provided [RCV002044386] Chr7:157010077 [GRCh38]
Chr7:156802771 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.27C>G (p.Ile9Met) single nucleotide variant not provided [RCV001987475] Chr7:157010324 [GRCh38]
Chr7:156803018 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1081G>A (p.Asp361Asn) single nucleotide variant not provided [RCV002024955] Chr7:157005645 [GRCh38]
Chr7:156798339 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.682G>C (p.Asp228His) single nucleotide variant not provided [RCV002025885] Chr7:157009669 [GRCh38]
Chr7:156802363 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.676A>G (p.Met226Val) single nucleotide variant not provided [RCV001911468] Chr7:157009675 [GRCh38]
Chr7:156802369 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.870G>A (p.Gln290=) single nucleotide variant not provided [RCV001909690] Chr7:157005856 [GRCh38]
Chr7:156798550 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1072G>A (p.Glu358Lys) single nucleotide variant not provided [RCV002022839] Chr7:157005654 [GRCh38]
Chr7:156798348 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.269T>G (p.Leu90Arg) single nucleotide variant not provided [RCV001966146] Chr7:157010082 [GRCh38]
Chr7:156802776 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1074GGACGA[2] (p.358ED[2]) microsatellite Currarino triad [RCV002503639]|not provided [RCV001945889] Chr7:157005635..157005640 [GRCh38]
Chr7:156798329..156798334 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_005515.4(MNX1):c.1016C>G (p.Pro339Arg) single nucleotide variant not provided [RCV002022833] Chr7:157005710 [GRCh38]
Chr7:156798404 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156796941-156910420)x3 copy number gain not provided [RCV001832963] Chr7:156796941..156910420 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_005515.4(MNX1):c.375CGC[15] (p.Ala129_Ala134dup) microsatellite not provided [RCV001872717] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.956G>A (p.Gly319Asp) single nucleotide variant Currarino triad [RCV002490145]|not provided [RCV001911131] Chr7:157005770 [GRCh38]
Chr7:156798464 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.71A>G (p.Gln24Arg) single nucleotide variant not provided [RCV001968652] Chr7:157010280 [GRCh38]
Chr7:156802974 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.955G>A (p.Gly319Ser) single nucleotide variant not provided [RCV001983533] Chr7:157005771 [GRCh38]
Chr7:156798465 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.454C>T (p.Leu152Phe) single nucleotide variant not provided [RCV001976560] Chr7:157009897 [GRCh38]
Chr7:156802591 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1081GACGAGGAC[1] (p.361DED[1]) microsatellite Currarino triad [RCV002507744]|not provided [RCV002000352] Chr7:157005628..157005636 [GRCh38]
Chr7:156798322..156798330 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.382G>T (p.Ala128Ser) single nucleotide variant not provided [RCV001954800] Chr7:157009969 [GRCh38]
Chr7:156802663 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.388G>A (p.Ala130Thr) single nucleotide variant not provided [RCV002050021] Chr7:157009963 [GRCh38]
Chr7:156802657 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.435C>T (p.Gly145=) single nucleotide variant not provided [RCV001899866] Chr7:157009916 [GRCh38]
Chr7:156802610 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.255C>T (p.Ala85=) single nucleotide variant not provided [RCV002000102] Chr7:157010096 [GRCh38]
Chr7:156802790 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.372_373insCCGCC (p.Ala125fs) insertion not provided [RCV001963131] Chr7:157009978..157009979 [GRCh38]
Chr7:156802672..156802673 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.686del (p.Phe229fs) deletion not provided [RCV001994642] Chr7:157009665 [GRCh38]
Chr7:156802359 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.375CGC[14] (p.Ala130_Ala134dup) microsatellite not provided [RCV001989839] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.9dup (p.Ser4fs) duplication not provided [RCV001956519] Chr7:157010341..157010342 [GRCh38]
Chr7:156803035..156803036 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.313G>C (p.Gly105Arg) single nucleotide variant Inborn genetic diseases [RCV002571284]|not provided [RCV001973256] Chr7:157010038 [GRCh38]
Chr7:156802732 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.958G>T (p.Ala320Ser) single nucleotide variant not provided [RCV002015286] Chr7:157005768 [GRCh38]
Chr7:156798462 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1007C>T (p.Pro336Leu) single nucleotide variant not provided [RCV001866761] Chr7:157005719 [GRCh38]
Chr7:156798413 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.132CGG[8] (p.Gly47_Gly49dup) microsatellite Currarino triad [RCV002503407]|not provided [RCV001904517] Chr7:157010204..157010205 [GRCh38]
Chr7:156802898..156802899 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.808A>C (p.Lys270Gln) single nucleotide variant Currarino triad [RCV002484909]|not provided [RCV001976744] Chr7:157006523 [GRCh38]
Chr7:156799217 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.375CGC[16] (p.Ala128_Ala134dup) microsatellite Currarino triad [RCV002478293]|not provided [RCV001902929] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.295G>C (p.Ala99Pro) single nucleotide variant not provided [RCV001956033] Chr7:157010056 [GRCh38]
Chr7:156802750 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.469dup (p.Ala157fs) duplication not provided [RCV001956157] Chr7:157009881..157009882 [GRCh38]
Chr7:156802575..156802576 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.298GGC[7] (p.Gly105dup) microsatellite not provided [RCV001917180] Chr7:157010035..157010036 [GRCh38]
Chr7:156802729..156802730 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.316A>G (p.Thr106Ala) single nucleotide variant not provided [RCV001917362] Chr7:157010035 [GRCh38]
Chr7:156802729 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1192C>T (p.Pro398Ser) single nucleotide variant not provided [RCV001930554] Chr7:157005534 [GRCh38]
Chr7:156798228 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.504GGC[6] (p.Ala174dup) microsatellite Currarino triad [RCV002484664]|not provided [RCV001972252] Chr7:157009832..157009833 [GRCh38]
Chr7:156802526..156802527 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.233C>G (p.Pro78Arg) single nucleotide variant not provided [RCV001905586] Chr7:157010118 [GRCh38]
Chr7:156802812 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.434G>A (p.Gly145Asp) single nucleotide variant not provided [RCV001918839] Chr7:157009917 [GRCh38]
Chr7:156802611 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.974C>G (p.Ala325Gly) single nucleotide variant not provided [RCV001921357] Chr7:157005752 [GRCh38]
Chr7:156798446 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NC_000007.13:g.(?_155595594)_(157208792_?)dup duplication Holoprosencephaly 3 [RCV003120760] Chr7:155595594..157208792 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.427C>G (p.Pro143Ala) single nucleotide variant not provided [RCV001981428] Chr7:157009924 [GRCh38]
Chr7:156802618 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.600_609del (p.Ile201fs) deletion not provided [RCV001905736] Chr7:157009742..157009751 [GRCh38]
Chr7:156802436..156802445 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.445G>A (p.Gly149Ser) single nucleotide variant Currarino triad [RCV002479399]|Inborn genetic diseases [RCV002556408]|not provided [RCV001920954] Chr7:157009906 [GRCh38]
Chr7:156802600 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.692-18C>T single nucleotide variant Currarino triad [RCV002508086]|not provided [RCV002127917] Chr7:157006657 [GRCh38]
Chr7:156799351 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.483C>T (p.His161=) single nucleotide variant Currarino triad [RCV002500393]|not provided [RCV002185843] Chr7:157009868 [GRCh38]
Chr7:156802562 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.666C>T (p.Ile222=) single nucleotide variant not provided [RCV002209384] Chr7:157009685 [GRCh38]
Chr7:156802379 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.895A>T (p.Ser299Cys) single nucleotide variant not provided [RCV002090985] Chr7:157005831 [GRCh38]
Chr7:156798525 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.852+12C>T single nucleotide variant not provided [RCV002167520] Chr7:157006467 [GRCh38]
Chr7:156799161 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.126A>G (p.Gly42=) single nucleotide variant Currarino triad [RCV002494175]|MNX1-related disorder [RCV003968853]|not provided [RCV002085814] Chr7:157010225 [GRCh38]
Chr7:156802919 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_005515.4(MNX1):c.562C>T (p.Gln188Ter) single nucleotide variant Currarino triad [RCV002250119] Chr7:157009789 [GRCh38]
Chr7:156802483 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.459G>T (p.Pro153=) single nucleotide variant not provided [RCV002108395] Chr7:157009892 [GRCh38]
Chr7:156802586 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.339C>T (p.Pro113=) single nucleotide variant not provided [RCV002096705] Chr7:157010012 [GRCh38]
Chr7:156802706 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.336G>A (p.Gly112=) single nucleotide variant not provided [RCV002149699] Chr7:157010015 [GRCh38]
Chr7:156802709 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del) microsatellite Currarino triad [RCV002505831]|not provided [RCV002151692] Chr7:157009950..157009958 [GRCh38]
Chr7:156802644..156802652 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.496T>C (p.Tyr166His) single nucleotide variant MNX1-related disorder [RCV003895785]|not provided [RCV002108012] Chr7:157009855 [GRCh38]
Chr7:156802549 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.375CGC[5] (p.Ala131_Ala134del) microsatellite not provided [RCV002148328] Chr7:157009950..157009961 [GRCh38]
Chr7:156802644..156802655 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.372T>C (p.Ala124=) single nucleotide variant Currarino triad [RCV002494479]|not provided [RCV002151876] Chr7:157009979 [GRCh38]
Chr7:156802673 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.198G>C (p.Pro66=) single nucleotide variant not provided [RCV002113105] Chr7:157010153 [GRCh38]
Chr7:156802847 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu) single nucleotide variant Currarino triad [RCV002507869]|not provided [RCV002172316] Chr7:157005533 [GRCh38]
Chr7:156798227 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.691+10C>G single nucleotide variant Currarino triad [RCV002500034]|not provided [RCV002132241] Chr7:157009650 [GRCh38]
Chr7:156802344 [GRCh37]
Chr7:7q36.3		 benign|likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005515.4(MNX1):c.234G>A (p.Pro78=) single nucleotide variant Currarino triad [RCV002494078]|not provided [RCV002197118] Chr7:157010117 [GRCh38]
Chr7:156802811 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.1194C>G (p.Pro398=) single nucleotide variant not provided [RCV002123660] Chr7:157005532 [GRCh38]
Chr7:156798226 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1042C>T (p.Leu348=) single nucleotide variant not provided [RCV002140933] Chr7:157005684 [GRCh38]
Chr7:156798378 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.691+620_691+621del microsatellite not provided [RCV002247177] Chr7:157009039..157009040 [GRCh38]
Chr7:156801733..156801734 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.869A>G (p.Gln290Arg) single nucleotide variant Currarino triad [RCV002245297] Chr7:157005857 [GRCh38]
Chr7:156798551 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.402T>C (p.Ala134=) single nucleotide variant Currarino triad [RCV002496112]|not provided [RCV002181860] Chr7:157009949 [GRCh38]
Chr7:156802643 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.853-18G>A single nucleotide variant not provided [RCV002180260] Chr7:157005891 [GRCh38]
Chr7:156798585 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.691+12G>A single nucleotide variant not provided [RCV002121260] Chr7:157009648 [GRCh38]
Chr7:156802342 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.377_378insTGCCGCCGCCGC (p.Ala131_Ala134dup) microsatellite not provided [RCV002123446] Chr7:157009973..157009974 [GRCh38]
Chr7:156802667..156802668 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.528G>A (p.Ala176=) single nucleotide variant Currarino triad [RCV002479872]|not provided [RCV002198157] Chr7:157009823 [GRCh38]
Chr7:156802517 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.486G>A (p.Pro162=) single nucleotide variant not provided [RCV002155209] Chr7:157009865 [GRCh38]
Chr7:156802559 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.68C>T (p.Ala23Val) single nucleotide variant Inborn genetic diseases [RCV003269541]|not provided [RCV003112752] Chr7:157010283 [GRCh38]
Chr7:156802977 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.766C>T (p.Leu256=) single nucleotide variant not provided [RCV003121370] Chr7:157006565 [GRCh38]
Chr7:156799259 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.244C>A (p.Arg82Ser) single nucleotide variant not provided [RCV003118449] Chr7:157010107 [GRCh38]
Chr7:156802801 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.13:g.(?_152617597)_(158500659_?)del deletion Holoprosencephaly 3 [RCV003122159]|not provided [RCV003122160] Chr7:152617597..158500659 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic|no classifications from unflagged records
NM_005515.4(MNX1):c.518C>T (p.Ala173Val) single nucleotide variant not provided [RCV003128925] Chr7:157009833 [GRCh38]
Chr7:156802527 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1135G>A (p.Ala379Thr) single nucleotide variant not provided [RCV002279059] Chr7:157005591 [GRCh38]
Chr7:156798285 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_005515.4(MNX1):c.863G>A (p.Trp288Ter) single nucleotide variant Currarino triad [RCV002273111] Chr7:157005863 [GRCh38]
Chr7:156798557 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_005515.4(MNX1):c.852G>A (p.Gln284=) single nucleotide variant Currarino triad [RCV002472167] Chr7:157006479 [GRCh38]
Chr7:156799173 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1136C>T (p.Ala379Val) single nucleotide variant Currarino triad [RCV003131598] Chr7:157005590 [GRCh38]
Chr7:156798284 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1159G>A (p.Asp387Asn) single nucleotide variant not provided [RCV002298385] Chr7:157005567 [GRCh38]
Chr7:156798261 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.971G>A (p.Gly324Asp) single nucleotide variant not provided [RCV002301512] Chr7:157005755 [GRCh38]
Chr7:156798449 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1004G>C (p.Gly335Ala) single nucleotide variant not provided [RCV002302411] Chr7:157005722 [GRCh38]
Chr7:156798416 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.853-2A>C single nucleotide variant not provided [RCV002838308] Chr7:157005875 [GRCh38]
Chr7:156798569 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.1166C>T (p.Ser389Leu) single nucleotide variant not provided [RCV002994914] Chr7:157005560 [GRCh38]
Chr7:156798254 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.669G>A (p.Leu223=) single nucleotide variant not provided [RCV002731422] Chr7:157009682 [GRCh38]
Chr7:156802376 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.121A>T (p.Thr41Ser) single nucleotide variant Inborn genetic diseases [RCV002880194] Chr7:157010230 [GRCh38]
Chr7:156802924 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.401_402insCGCCGCTGGGGGCCTGGCGC (p.Gly135fs) microsatellite not provided [RCV002904256] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.362C>T (p.Ala121Val) single nucleotide variant not provided [RCV003011671] Chr7:157009989 [GRCh38]
Chr7:156802683 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.112G>A (p.Ala38Thr) single nucleotide variant Inborn genetic diseases [RCV002754062] Chr7:157010239 [GRCh38]
Chr7:156802933 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV002686210] Chr7:157009983 [GRCh38]
Chr7:156802677 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.697del (p.Ala233fs) deletion not provided [RCV003013782] Chr7:157006634 [GRCh38]
Chr7:156799328 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.188C>T (p.Ser63Leu) single nucleotide variant Inborn genetic diseases [RCV002687329] Chr7:157010163 [GRCh38]
Chr7:156802857 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.311G>A (p.Gly104Asp) single nucleotide variant not provided [RCV002819777] Chr7:157010040 [GRCh38]
Chr7:156802734 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.504GGC[7] (p.Ala174_Leu175insAlaAla) microsatellite not provided [RCV002756251] Chr7:157009832..157009833 [GRCh38]
Chr7:156802526..156802527 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.136G>T (p.Gly46Cys) single nucleotide variant Inborn genetic diseases [RCV002733284] Chr7:157010215 [GRCh38]
Chr7:156802909 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.242C>T (p.Pro81Leu) single nucleotide variant not provided [RCV002462391] Chr7:157010109 [GRCh38]
Chr7:156802803 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.555G>C (p.Ser185=) single nucleotide variant not provided [RCV002975087] Chr7:157009796 [GRCh38]
Chr7:156802490 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.378C>A (p.Ala126=) single nucleotide variant not provided [RCV002658785] Chr7:157009973 [GRCh38]
Chr7:156802667 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV003039461] Chr7:157010314 [GRCh38]
Chr7:156803008 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.306_326del (p.Gly103_Gly109del) deletion not provided [RCV002740324] Chr7:157010025..157010045 [GRCh38]
Chr7:156802719..156802739 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.477C>T (p.Tyr159=) single nucleotide variant not provided [RCV002570909] Chr7:157009874 [GRCh38]
Chr7:156802568 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.400G>A (p.Ala134Thr) single nucleotide variant not provided [RCV002949081] Chr7:157009951 [GRCh38]
Chr7:156802645 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.581C>G (p.Pro194Arg) single nucleotide variant not provided [RCV002636493] Chr7:157009770 [GRCh38]
Chr7:156802464 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.369C>G (p.Ala123=) single nucleotide variant not provided [RCV002658786] Chr7:157009982 [GRCh38]
Chr7:156802676 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.881_884del (p.Met294fs) deletion not provided [RCV003036716] Chr7:157005842..157005845 [GRCh38]
Chr7:156798536..156798539 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1017C>G (p.Pro339=) single nucleotide variant not provided [RCV003079531] Chr7:157005709 [GRCh38]
Chr7:156798403 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.372_373insACCGCC (p.Ala124_Ala125insThrAla) insertion not provided [RCV002979509] Chr7:157009978..157009979 [GRCh38]
Chr7:156802672..156802673 [GRCh37]
Chr7:7q36.3		 benign|uncertain significance
NM_005515.4(MNX1):c.298GGC[3] (p.Gly103_Gly105del) microsatellite not provided [RCV002620923] Chr7:157010036..157010044 [GRCh38]
Chr7:156802730..156802738 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.352C>T (p.His118Tyr) single nucleotide variant Inborn genetic diseases [RCV002845544] Chr7:157009999 [GRCh38]
Chr7:156802693 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.429T>G (p.Pro143=) single nucleotide variant not provided [RCV002658783] Chr7:157009922 [GRCh38]
Chr7:156802616 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.381C>T (p.Ala127=) single nucleotide variant not provided [RCV002658784] Chr7:157009970 [GRCh38]
Chr7:156802664 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.132CGG[6] (p.Gly49_Ala50insGly) microsatellite not provided [RCV002912618] Chr7:157010204..157010205 [GRCh38]
Chr7:156802898..156802899 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.132CGG[7] (p.Gly49_Ala50insGlyGly) microsatellite not provided [RCV003039151] Chr7:157010204..157010205 [GRCh38]
Chr7:156802898..156802899 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.131G>C (p.Gly44Ala) single nucleotide variant Inborn genetic diseases [RCV002694623] Chr7:157010220 [GRCh38]
Chr7:156802914 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.133G>A (p.Gly45Ser) single nucleotide variant Inborn genetic diseases [RCV002738566] Chr7:157010218 [GRCh38]
Chr7:156802912 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.355C>T (p.Pro119Ser) single nucleotide variant not provided [RCV002705217] Chr7:157009996 [GRCh38]
Chr7:156802690 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.383_384insTGCCGCCGCCGCCGCCGCCGC (p.Ala134_Gly135insAlaAlaAlaAlaAlaAlaAla) microsatellite not provided [RCV002843999] Chr7:157009967..157009968 [GRCh38]
Chr7:156802661..156802662 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.386_387insAGCCGCCGCCGCCGC (p.Ala134_Gly135insAlaAlaAlaAlaAla) microsatellite not provided [RCV003020525] Chr7:157009964..157009965 [GRCh38]
Chr7:156802658..156802659 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1066C>T (p.Pro356Ser) single nucleotide variant not provided [RCV002894474] Chr7:157005660 [GRCh38]
Chr7:156798354 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1048G>A (p.Asp350Asn) single nucleotide variant not provided [RCV002801411] Chr7:157005678 [GRCh38]
Chr7:156798372 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1008G>T (p.Pro336=) single nucleotide variant not provided [RCV002595680] Chr7:157005718 [GRCh38]
Chr7:156798412 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1156G>A (p.Glu386Lys) single nucleotide variant not provided [RCV003056205] Chr7:157005570 [GRCh38]
Chr7:156798264 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1022A>G (p.Asp341Gly) single nucleotide variant not provided [RCV002596404] Chr7:157005704 [GRCh38]
Chr7:156798398 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.738C>G (p.Thr246=) single nucleotide variant not provided [RCV002914615] Chr7:157006593 [GRCh38]
Chr7:156799287 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1168C>G (p.Pro390Ala) single nucleotide variant not provided [RCV002710270] Chr7:157005558 [GRCh38]
Chr7:156798252 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.440A>C (p.Gln147Pro) single nucleotide variant not provided [RCV002642665] Chr7:157009911 [GRCh38]
Chr7:156802605 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.83T>C (p.Leu28Pro) single nucleotide variant not provided [RCV003023107] Chr7:157010268 [GRCh38]
Chr7:156802962 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.216C>T (p.Arg72=) single nucleotide variant not provided [RCV002576084] Chr7:157010135 [GRCh38]
Chr7:156802829 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.485C>T (p.Pro162Leu) single nucleotide variant not provided [RCV003059627] Chr7:157009866 [GRCh38]
Chr7:156802560 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.325G>A (p.Gly109Arg) single nucleotide variant not provided [RCV002625745] Chr7:157010026 [GRCh38]
Chr7:156802720 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.86C>T (p.Ala29Val) single nucleotide variant Inborn genetic diseases [RCV002803052] Chr7:157010265 [GRCh38]
Chr7:156802959 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.576G>A (p.Ala192=) single nucleotide variant not provided [RCV002958320] Chr7:157009775 [GRCh38]
Chr7:156802469 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.436G>C (p.Ala146Pro) single nucleotide variant Inborn genetic diseases [RCV002709301]|not provided [RCV003778582] Chr7:157009915 [GRCh38]
Chr7:156802609 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.599_600dup (p.Ile201fs) duplication not provided [RCV002825766] Chr7:157009750..157009751 [GRCh38]
Chr7:156802444..156802445 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.1162G>T (p.Asp388Tyr) single nucleotide variant not provided [RCV002786366] Chr7:157005564 [GRCh38]
Chr7:156798258 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.888G>A (p.Trp296Ter) single nucleotide variant not provided [RCV003056026] Chr7:157005838 [GRCh38]
Chr7:156798532 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.871A>C (p.Asn291His) single nucleotide variant not provided [RCV002801994] Chr7:157005855 [GRCh38]
Chr7:156798549 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1015C>G (p.Pro339Ala) single nucleotide variant not provided [RCV002631773] Chr7:157005711 [GRCh38]
Chr7:156798405 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.249G>C (p.Leu83=) single nucleotide variant not provided [RCV003089963] Chr7:157010102 [GRCh38]
Chr7:156802796 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.983C>T (p.Pro328Leu) single nucleotide variant not provided [RCV002670922] Chr7:157005743 [GRCh38]
Chr7:156798437 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.529G>T (p.Gly177Cys) single nucleotide variant not provided [RCV002899790] Chr7:157009822 [GRCh38]
Chr7:156802516 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.98C>T (p.Ser33Leu) single nucleotide variant not provided [RCV003046087] Chr7:157010253 [GRCh38]
Chr7:156802947 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.603C>T (p.Ile201=) single nucleotide variant not provided [RCV003029542] Chr7:157009748 [GRCh38]
Chr7:156802442 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1078G>A (p.Glu360Lys) single nucleotide variant not provided [RCV002602117] Chr7:157005648 [GRCh38]
Chr7:156798342 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.164G>C (p.Ser55Thr) single nucleotide variant not provided [RCV003061239] Chr7:157010187 [GRCh38]
Chr7:156802881 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.435C>A (p.Gly145=) single nucleotide variant not provided [RCV003027591] Chr7:157009916 [GRCh38]
Chr7:156802610 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.276C>G (p.Pro92=) single nucleotide variant not provided [RCV002857060] Chr7:157010075 [GRCh38]
Chr7:156802769 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.401_402insCGCCGCTGCCGCCGCCGC (p.Ala134_Gly135insAlaAlaAlaAlaAlaAla) microsatellite not provided [RCV002715481] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.249G>T (p.Leu83=) single nucleotide variant not provided [RCV003044064] Chr7:157010102 [GRCh38]
Chr7:156802796 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.334G>A (p.Gly112Arg) single nucleotide variant Inborn genetic diseases [RCV002934151] Chr7:157010017 [GRCh38]
Chr7:156802711 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.336dup (p.Pro113fs) duplication not provided [RCV003062150] Chr7:157010014..157010015 [GRCh38]
Chr7:156802708..156802709 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.590C>T (p.Pro197Leu) single nucleotide variant not provided [RCV002579364] Chr7:157009761 [GRCh38]
Chr7:156802455 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1132G>A (p.Ala378Thr) single nucleotide variant Inborn genetic diseases [RCV002747358] Chr7:157005594 [GRCh38]
Chr7:156798288 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.981G>T (p.Glu327Asp) single nucleotide variant not provided [RCV002807263] Chr7:157005745 [GRCh38]
Chr7:156798439 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.351G>A (p.Ala117=) single nucleotide variant not provided [RCV002600649] Chr7:157010000 [GRCh38]
Chr7:156802694 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.129T>C (p.Gly43=) single nucleotide variant not provided [RCV003027687] Chr7:157010222 [GRCh38]
Chr7:156802916 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.270G>C (p.Leu90=) single nucleotide variant not provided [RCV003030978] Chr7:157010081 [GRCh38]
Chr7:156802775 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.374_375insTGCCGCCGC (p.Ala134_Gly135insAlaAlaAla) microsatellite not provided [RCV002599833] Chr7:157009976..157009977 [GRCh38]
Chr7:156802670..156802671 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.197C>G (p.Pro66Arg) single nucleotide variant not provided [RCV003028039] Chr7:157010154 [GRCh38]
Chr7:156802848 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.486G>T (p.Pro162=) single nucleotide variant not provided [RCV002856847] Chr7:157009865 [GRCh38]
Chr7:156802559 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1134C>T (p.Ala378=) single nucleotide variant not provided [RCV002857189] Chr7:157005592 [GRCh38]
Chr7:156798286 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.407G>C (p.Gly136Ala) single nucleotide variant not provided [RCV003047995] Chr7:157009944 [GRCh38]
Chr7:156802638 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.366_395del (p.Ala125_Ala134del) deletion not provided [RCV002599551] Chr7:157009956..157009985 [GRCh38]
Chr7:156802650..156802679 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.689A>G (p.Asn230Ser) single nucleotide variant not provided [RCV002601296] Chr7:157009662 [GRCh38]
Chr7:156802356 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.22C>T (p.Arg8Cys) single nucleotide variant not provided [RCV002933486] Chr7:157010329 [GRCh38]
Chr7:156803023 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1171C>T (p.Pro391Ser) single nucleotide variant not provided [RCV003050819] Chr7:157005555 [GRCh38]
Chr7:156798249 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.426C>T (p.His142=) single nucleotide variant not provided [RCV002681031] Chr7:157009925 [GRCh38]
Chr7:156802619 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.593C>T (p.Ala198Val) single nucleotide variant not provided [RCV002657942] Chr7:157009758 [GRCh38]
Chr7:156802452 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.237G>A (p.Ser79=) single nucleotide variant not provided [RCV002634650] Chr7:157010114 [GRCh38]
Chr7:156802808 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.384C>T (p.Ala128=) single nucleotide variant not provided [RCV002681032] Chr7:157009967 [GRCh38]
Chr7:156802661 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.468G>A (p.Ala156=) single nucleotide variant not provided [RCV002585600] Chr7:157009883 [GRCh38]
Chr7:156802577 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1137C>G (p.Ala379=) single nucleotide variant not provided [RCV002943665] Chr7:157005589 [GRCh38]
Chr7:156798283 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.258G>T (p.Ala86=) single nucleotide variant not provided [RCV003066194] Chr7:157010093 [GRCh38]
Chr7:156802787 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.525G>A (p.Leu175=) single nucleotide variant not provided [RCV002588190] Chr7:157009826 [GRCh38]
Chr7:156802520 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.145G>A (p.Gly49Arg) single nucleotide variant Currarino triad [RCV003132670]|not provided [RCV003778729] Chr7:157010206 [GRCh38]
Chr7:156802900 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_005515.4(MNX1):c.878G>A (p.Arg293Gln) single nucleotide variant not provided [RCV003228446] Chr7:157005848 [GRCh38]
Chr7:156798542 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.517G>C (p.Ala173Pro) single nucleotide variant Inborn genetic diseases [RCV003282579] Chr7:157009834 [GRCh38]
Chr7:156802528 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.224C>T (p.Ala75Val) single nucleotide variant Inborn genetic diseases [RCV003258418] Chr7:157010127 [GRCh38]
Chr7:156802821 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.149C>A (p.Ala50Glu) single nucleotide variant Inborn genetic diseases [RCV003213310] Chr7:157010202 [GRCh38]
Chr7:156802896 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1 copy number loss Holoprosencephaly 3 [RCV003327714] Chr7:154446117..159206757 [GRCh38]
Chr7:7q36.2-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_005515.4(MNX1):c.573_582dup (p.Ala195fs) duplication MNX1-related disorder [RCV003402535] Chr7:157009768..157009769 [GRCh38]
Chr7:156802462..156802463 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.691+667C>A single nucleotide variant not provided [RCV003435372] Chr7:157008993 [GRCh38]
Chr7:156801687 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.767T>G (p.Leu256Arg) single nucleotide variant MNX1-related disorder [RCV003397530] Chr7:157006564 [GRCh38]
Chr7:156799258 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.-11_276del (p.Met1fs) deletion not provided [RCV003441696] Chr7:157010075..157010361 [GRCh38]
Chr7:156802769..156803055 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.832C>G (p.Leu278Val) single nucleotide variant MNX1-related disorder [RCV003414460] Chr7:157006499 [GRCh38]
Chr7:156799193 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1179_1197dup (p.Pro400fs) duplication MNX1-related disorder [RCV003420920] Chr7:157005528..157005529 [GRCh38]
Chr7:156798222..156798223 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.962_976dup (p.Ala325_Glu326insGlyLysGlyGlyAla) duplication not provided [RCV003696212] Chr7:157005749..157005750 [GRCh38]
Chr7:156798443..156798444 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.792G>A (p.Lys264=) single nucleotide variant not provided [RCV003712785] Chr7:157006539 [GRCh38]
Chr7:156799233 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1119C>T (p.Gly373=) single nucleotide variant not provided [RCV003830178] Chr7:157005607 [GRCh38]
Chr7:156798301 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1068C>G (p.Pro356=) single nucleotide variant not provided [RCV003659732] Chr7:157005658 [GRCh38]
Chr7:156798352 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.298GGC[8] (p.Gly105_Thr106insGlyGly) microsatellite not provided [RCV003830545] Chr7:157010035..157010036 [GRCh38]
Chr7:156802729..156802730 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.124G>C (p.Gly42Arg) single nucleotide variant not provided [RCV003695664] Chr7:157010227 [GRCh38]
Chr7:156802921 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.852+6C>G single nucleotide variant not provided [RCV003714756] Chr7:157006473 [GRCh38]
Chr7:156799167 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1055G>C (p.Arg352Thr) single nucleotide variant Currarino triad [RCV003486155] Chr7:157005671 [GRCh38]
Chr7:156798365 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1020A>G (p.Gly340=) single nucleotide variant not provided [RCV003573634] Chr7:157005706 [GRCh38]
Chr7:156798400 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.321_333del (p.Gly109fs) deletion not provided [RCV003688424] Chr7:157010018..157010030 [GRCh38]
Chr7:156802712..156802724 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.403_404insCCG (p.Ala134_Gly135insAla) insertion not provided [RCV003879318] Chr7:157009947..157009948 [GRCh38]
Chr7:156802641..156802642 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.561G>C (p.Pro187=) single nucleotide variant not provided [RCV003660308] Chr7:157009790 [GRCh38]
Chr7:156802484 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.298GGC[4] (p.Gly104_Gly105del) microsatellite not provided [RCV003879235] Chr7:157010036..157010041 [GRCh38]
Chr7:156802730..156802735 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.401_402insCGCCTCCGCCGCCGC (p.Ala134_Gly135insAlaSerAlaAlaAla) microsatellite not provided [RCV003545614] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.691+10C>A single nucleotide variant not provided [RCV003665132] Chr7:157009650 [GRCh38]
Chr7:156802344 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.344A>G (p.His115Arg) single nucleotide variant not provided [RCV003673664] Chr7:157010007 [GRCh38]
Chr7:156802701 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.904G>A (p.Ala302Thr) single nucleotide variant not provided [RCV003671444] Chr7:157005822 [GRCh38]
Chr7:156798516 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.122C>T (p.Thr41Ile) single nucleotide variant not provided [RCV003674297] Chr7:157010229 [GRCh38]
Chr7:156802923 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1099C>T (p.His367Tyr) single nucleotide variant not provided [RCV003840322] Chr7:157005627 [GRCh38]
Chr7:156798321 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1104C>T (p.Phe368=) single nucleotide variant not provided [RCV003697119] Chr7:157005622 [GRCh38]
Chr7:156798316 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.439C>A (p.Gln147Lys) single nucleotide variant not provided [RCV003850280] Chr7:157009912 [GRCh38]
Chr7:156802606 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.963G>A (p.Gly321=) single nucleotide variant not provided [RCV003664773] Chr7:157005763 [GRCh38]
Chr7:156798457 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.382_383insTCGCCG (p.Ala127_Ala128insValAla) insertion not provided [RCV003701146] Chr7:157009968..157009969 [GRCh38]
Chr7:156802662..156802663 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.794A>T (p.Tyr265Phe) single nucleotide variant not provided [RCV003558331] Chr7:157006537 [GRCh38]
Chr7:156799231 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.371C>A (p.Ala124Asp) single nucleotide variant not provided [RCV003814211] Chr7:157009980 [GRCh38]
Chr7:156802674 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1074GGACGA[4] (p.Asp363_Asp364insGluAsp) microsatellite not provided [RCV003548586] Chr7:157005634..157005635 [GRCh38]
Chr7:156798328..156798329 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.868C>T (p.Gln290Ter) single nucleotide variant not provided [RCV003580553] Chr7:157005858 [GRCh38]
Chr7:156798552 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.919G>A (p.Ala307Thr) single nucleotide variant not provided [RCV003696821] Chr7:157005807 [GRCh38]
Chr7:156798501 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.692-8G>C single nucleotide variant not provided [RCV003717910] Chr7:157006647 [GRCh38]
Chr7:156799341 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.292G>A (p.Gly98Ser) single nucleotide variant not provided [RCV003814343] Chr7:157010059 [GRCh38]
Chr7:156802753 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.156C>T (p.Gly52=) single nucleotide variant MNX1-related disorder [RCV003901141]|not provided [RCV003548810] Chr7:157010195 [GRCh38]
Chr7:156802889 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.963G>C (p.Gly321=) single nucleotide variant not provided [RCV003558091] Chr7:157005763 [GRCh38]
Chr7:156798457 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.125G>A (p.Gly42Glu) single nucleotide variant not provided [RCV003672038] Chr7:157010226 [GRCh38]
Chr7:156802920 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.261C>G (p.His87Gln) single nucleotide variant not provided [RCV003729868] Chr7:157010090 [GRCh38]
Chr7:156802784 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.852+20C>G single nucleotide variant not provided [RCV003823215] Chr7:157006459 [GRCh38]
Chr7:156799153 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.658G>A (p.Gly220Ser) single nucleotide variant not provided [RCV003708287] Chr7:157009693 [GRCh38]
Chr7:156802387 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1017C>T (p.Pro339=) single nucleotide variant not provided [RCV003847658] Chr7:157005709 [GRCh38]
Chr7:156798403 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.89T>C (p.Leu30Ser) single nucleotide variant not provided [RCV003731676] Chr7:157010262 [GRCh38]
Chr7:156802956 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.306_326dup (p.Gly109_His110insGlyGlyGlyThrGlyGlyGly) duplication not provided [RCV003706785] Chr7:157010024..157010025 [GRCh38]
Chr7:156802718..156802719 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.692-2A>G single nucleotide variant not provided [RCV003675173] Chr7:157006641 [GRCh38]
Chr7:156799335 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.712C>A (p.Leu238Met) single nucleotide variant not provided [RCV003731189] Chr7:157006619 [GRCh38]
Chr7:156799313 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.245G>T (p.Arg82Leu) single nucleotide variant not provided [RCV003721064] Chr7:157010106 [GRCh38]
Chr7:156802800 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1 copy number loss not specified [RCV003986686] Chr7:155607058..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_005515.4(MNX1):c.579C>G (p.His193Gln) single nucleotide variant not provided [RCV003722729] Chr7:157009772 [GRCh38]
Chr7:156802466 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.206C>T (p.Pro69Leu) single nucleotide variant not provided [RCV003554822] Chr7:157010145 [GRCh38]
Chr7:156802839 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.158G>A (p.Gly53Glu) single nucleotide variant not provided [RCV003848216] Chr7:157010193 [GRCh38]
Chr7:156802887 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.319G>C (p.Gly107Arg) single nucleotide variant not provided [RCV003729161] Chr7:157010032 [GRCh38]
Chr7:156802726 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_005515.4(MNX1):c.541G>A (p.Ala181Thr) single nucleotide variant not provided [RCV003722150] Chr7:157009810 [GRCh38]
Chr7:156802504 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1174C>T (p.Pro392Ser) single nucleotide variant not provided [RCV003684815] Chr7:157005552 [GRCh38]
Chr7:156798246 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1171C>A (p.Pro391Thr) single nucleotide variant not provided [RCV003856913] Chr7:157005555 [GRCh38]
Chr7:156798249 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.849C>A (p.Thr283=) single nucleotide variant not provided [RCV003822608] Chr7:157006482 [GRCh38]
Chr7:156799176 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.401_402insAGCCGCCGC (p.Ala134_Gly135insAlaAlaAla) microsatellite not provided [RCV003685091] Chr7:157009949..157009950 [GRCh38]
Chr7:156802643..156802644 [GRCh37]
Chr7:7q36.3		 benign
NM_005515.4(MNX1):c.517G>A (p.Ala173Thr) single nucleotide variant not provided [RCV003675870] Chr7:157009834 [GRCh38]
Chr7:156802528 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.850C>G (p.Gln284Glu) single nucleotide variant not provided [RCV003552138] Chr7:157006481 [GRCh38]
Chr7:156799175 [GRCh37]
Chr7:7q36.3		 likely pathogenic
NM_005515.4(MNX1):c.988G>A (p.Ala330Thr) single nucleotide variant not provided [RCV003862041] Chr7:157005738 [GRCh38]
Chr7:156798432 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.691+17C>T single nucleotide variant not provided [RCV003682737] Chr7:157009643 [GRCh38]
Chr7:156802337 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.361G>T (p.Ala121Ser) single nucleotide variant not provided [RCV003542860] Chr7:157009990 [GRCh38]
Chr7:156802684 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.258G>C (p.Ala86=) single nucleotide variant not provided [RCV003727136] Chr7:157010093 [GRCh38]
Chr7:156802787 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.691+9C>T single nucleotide variant not provided [RCV003866128] Chr7:157009651 [GRCh38]
Chr7:156802345 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.869A>T (p.Gln290Leu) single nucleotide variant not provided [RCV003552219] Chr7:157005857 [GRCh38]
Chr7:156798551 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1059C>A (p.Asp353Glu) single nucleotide variant not provided [RCV003822446] Chr7:157005667 [GRCh38]
Chr7:156798361 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.258G>A (p.Ala86=) single nucleotide variant not provided [RCV003822352] Chr7:157010093 [GRCh38]
Chr7:156802787 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.1138T>G (p.Ser380Ala) single nucleotide variant not provided [RCV003842665] Chr7:157005588 [GRCh38]
Chr7:156798282 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_005515.4(MNX1):c.126A>C (p.Gly42=) single nucleotide variant MNX1-related disorder [RCV003956741] Chr7:157010225 [GRCh38]
Chr7:156802919 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.355C>A (p.Pro119Thr) single nucleotide variant Currarino triad [RCV003885332] Chr7:157009996 [GRCh38]
Chr7:156802690 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.*7C>G single nucleotide variant MNX1-related disorder [RCV003926875] Chr7:157005513 [GRCh38]
Chr7:156798207 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.135C>A (p.Gly45=) single nucleotide variant MNX1-related disorder [RCV003952125] Chr7:157010216 [GRCh38]
Chr7:156802910 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.504GGC[4] (p.Ala174del) microsatellite MNX1-related disorder [RCV003917170] Chr7:157009833..157009835 [GRCh38]
Chr7:156802527..156802529 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.123C>G (p.Thr41=) single nucleotide variant MNX1-related disorder [RCV003934569] Chr7:157010228 [GRCh38]
Chr7:156802922 [GRCh37]
Chr7:7q36.3		 likely benign
NM_005515.4(MNX1):c.602T>C (p.Ile201Thr) single nucleotide variant Inborn genetic diseases [RCV004481685] Chr7:157009749 [GRCh38]
Chr7:156802443 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.136G>C (p.Gly46Arg) single nucleotide variant Inborn genetic diseases [RCV004479290] Chr7:157010215 [GRCh38]
Chr7:156802909 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.182C>G (p.Ala61Gly) single nucleotide variant Inborn genetic diseases [RCV004479390] Chr7:157010169 [GRCh38]
Chr7:156802863 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.103G>A (p.Ala35Thr) single nucleotide variant Inborn genetic diseases [RCV004479119] Chr7:157010248 [GRCh38]
Chr7:156802942 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_005515.4(MNX1):c.1058A>G (p.Asp353Gly) single nucleotide variant Inborn genetic diseases [RCV004479144] Chr7:157005668 [GRCh38]
Chr7:156798362 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.13:g.(?_156798214)_(157202715_?)dup duplication not provided [RCV004578535] Chr7:156798214..157202715 [GRCh37]
Chr7:7q36.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2695
Count of miRNA genes:831
Interacting mature miRNAs:996
Transcripts:ENST00000252971, ENST00000425745, ENST00000428439, ENST00000469500, ENST00000474448, ENST00000479817, ENST00000543409, ENST00000605400
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
406984493GWAS633469_Hadolescent idiopathic scoliosis QTL GWAS633469 (human)0.000001adolescent idiopathic scoliosis7157007928157007929Human

Markers in Region
D7S2795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,797,700 - 156,797,801UniSTSGRCh37
Build 367156,490,461 - 156,490,562RGDNCBI36
Celera7151,224,801 - 151,224,902RGD
Cytogenetic Map7q36UniSTS
HuRef7150,530,375 - 150,530,476UniSTS
CRA_TCAGchr7v27156,027,058 - 156,027,159UniSTS
RH17984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377156,797,229 - 156,797,451UniSTSGRCh37
Build 367156,489,990 - 156,490,212RGDNCBI36
Celera7151,224,330 - 151,224,552RGD
Cytogenetic Map7q36UniSTS
HuRef7150,529,904 - 150,530,126UniSTS
CRA_TCAGchr7v27156,026,587 - 156,026,809UniSTS
GeneMap99-GB4 RH Map7683.39UniSTS
NCBI RH Map71518.6UniSTS


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
655 1836 1798 1089 3674 1009 1610 4 334 1309 187 1771 4332 3641 42 2575 627 1483 1196 158

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252971   ⟹   ENSP00000252971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7157,004,854 - 157,010,663 (-)Ensembl
Ensembl Acc Id: ENST00000425745   ⟹   ENSP00000416458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7157,005,842 - 157,009,287 (-)Ensembl
Ensembl Acc Id: ENST00000428439   ⟹   ENSP00000401158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7157,005,842 - 157,009,435 (-)Ensembl
Ensembl Acc Id: ENST00000469500   ⟹   ENSP00000475129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,994,051 - 157,009,075 (-)Ensembl
Ensembl Acc Id: ENST00000474448   ⟹   ENSP00000473965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7157,005,842 - 157,009,435 (-)Ensembl
Ensembl Acc Id: ENST00000479817   ⟹   ENSP00000474286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7156,994,051 - 157,009,697 (-)Ensembl
Ensembl Acc Id: ENST00000543409   ⟹   ENSP00000438552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7157,004,853 - 157,009,435 (-)Ensembl
Ensembl Acc Id: ENST00000605400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7157,007,539 - 157,009,291 (-)Ensembl
RefSeq Acc Id: NM_001165255   ⟹   NP_001158727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387157,004,854 - 157,009,435 (-)NCBI
GRCh377156,797,547 - 156,803,347 (-)ENTREZGENE
HuRef7150,530,222 - 150,535,994 (-)ENTREZGENE
CHM1_17156,806,166 - 156,810,749 (-)NCBI
T2T-CHM13v2.07158,192,588 - 158,197,170 (-)NCBI
CRA_TCAGchr7v27156,026,905 - 156,032,706 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_005515   ⟹   NP_005506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387157,004,854 - 157,010,663 (-)NCBI
GRCh377156,797,547 - 156,803,347 (-)ENTREZGENE
Build 367156,490,308 - 156,496,108 (-)NCBI Archive
HuRef7150,530,222 - 150,535,994 (-)ENTREZGENE
CHM1_17156,806,166 - 156,811,852 (-)NCBI
T2T-CHM13v2.07158,192,588 - 158,198,404 (-)NCBI
CRA_TCAGchr7v27156,026,905 - 156,032,706 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_005506   ⟸   NM_005515
- Peptide Label: isoform 1
- UniProtKB: F5H401 (UniProtKB/Swiss-Prot),   Q9Y648 (UniProtKB/Swiss-Prot),   P50219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158727   ⟸   NM_001165255
- Peptide Label: isoform 2
- UniProtKB: P50219 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000252971   ⟸   ENST00000252971
Ensembl Acc Id: ENSP00000416458   ⟸   ENST00000425745
Ensembl Acc Id: ENSP00000438552   ⟸   ENST00000543409
Ensembl Acc Id: ENSP00000474286   ⟸   ENST00000479817
Ensembl Acc Id: ENSP00000401158   ⟸   ENST00000428439
Ensembl Acc Id: ENSP00000475129   ⟸   ENST00000469500
Ensembl Acc Id: ENSP00000473965   ⟸   ENST00000474448
Protein Domains
Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50219-F1-model_v2 AlphaFold P50219 1-401 view protein structure

Promoters
RGD ID:6806194
Promoter ID:HG_KWN:60449
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001165255,   NM_005515,   OTTHUMT00000347788,   OTTHUMT00000347860,   UC003WMZ.2,   UC003WNA.2,   UC010LQQ.1,   UC010LQR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367156,494,846 - 156,496,977 (+)MPROMDB
RGD ID:7212445
Promoter ID:EPDNEW_H11969
Type:initiation region
Name:MNX1_2
Description:motor neuron and pancreas homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11970  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387157,009,350 - 157,009,410EPDNEW
RGD ID:7212451
Promoter ID:EPDNEW_H11970
Type:initiation region
Name:MNX1_1
Description:motor neuron and pancreas homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11969  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387157,010,660 - 157,010,720EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4979 AgrOrtholog
COSMIC MNX1 COSMIC
Ensembl Genes ENSG00000130675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252971 ENTREZGENE
  ENST00000252971.11 UniProtKB/Swiss-Prot
  ENST00000425745.1 UniProtKB/TrEMBL
  ENST00000428439.1 UniProtKB/TrEMBL
  ENST00000469500.5 UniProtKB/TrEMBL
  ENST00000474448.1 UniProtKB/TrEMBL
  ENST00000479817.1 UniProtKB/TrEMBL
  ENST00000543409 ENTREZGENE
  ENST00000543409.5 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130675 GTEx
HGNC ID HGNC:4979 ENTREZGENE
Human Proteome Map MNX1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_metazoa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MNX1/Ceh-12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3110 UniProtKB/Swiss-Prot
NCBI Gene 3110 ENTREZGENE
OMIM 142994 OMIM
PANTHER MOTOR NEURON AND PANCREAS HOMEOBOX PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162396041 PharmGKB
PRINTS HOMEOBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JFT4_HUMAN UniProtKB/TrEMBL
  C9K088_HUMAN UniProtKB/TrEMBL
  F5H401 ENTREZGENE
  MNX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9Y648 ENTREZGENE
  S4R364_HUMAN UniProtKB/TrEMBL
  S4R3G1_HUMAN UniProtKB/TrEMBL
  S4R464_HUMAN UniProtKB/TrEMBL
UniProt Secondary F5H401 UniProtKB/Swiss-Prot
  Q9Y648 UniProtKB/Swiss-Prot