NPR2 (natriuretic peptide receptor 2) - Rat Genome Database

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Gene: NPR2 (natriuretic peptide receptor 2) Homo sapiens
Analyze
Symbol: NPR2
Name: natriuretic peptide receptor 2
RGD ID: 733765
HGNC Page HGNC
Description: Enables guanylate cyclase activity; natriuretic peptide receptor activity; and peptide hormone binding activity. Involved in cellular response to granulocyte macrophage colony-stimulating factor stimulus and receptor guanylyl cyclase signaling pathway. Located in plasma membrane. Is integral component of plasma membrane. Implicated in Miura type epiphyseal chondrodysplasia; acromesomelic dysplasia, Maroteaux type; and essential hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acromesomelic dysplasia, Maroteaux type; AMDM; ANP-B; ANPb; ANPR-B; ANPRB; atrial natriuretic peptide B-type receptor; atrial natriuretic peptide receptor 2; atrial natriuretic peptide receptor type B; ECDM; GC-B; GCB; guanylate cyclase 2B; guanylate cyclase B; guanylyl cyclase B; GUC2B; GUCY2B; natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B); NPR-B; NPRB; NPRBi; SNSK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,791,591 - 35,809,732 (+)EnsemblGRCh38hg38GRCh38
GRCh38935,782,086 - 35,809,731 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,791,588 - 35,809,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,782,406 - 35,799,728 (+)NCBINCBI36hg18NCBI36
Build 34935,782,405 - 35,799,709NCBI
Celera935,725,947 - 35,743,260 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,748,436 - 35,765,752 (+)NCBIHuRef
CHM1_1935,792,795 - 35,810,116 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Acromesomelia  (IAGP)
Arachnodactyly  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Beaking of vertebral bodies  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad finger  (IAGP)
Broad hallux  (IAGP)
Broad metacarpals  (IAGP)
Broad metatarsal  (IAGP)
Broad phalanx  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Craniosynostosis  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short stature  (IAGP)
Dolichocephaly  (IAGP)
Epiphyseal dysplasia  (IAGP)
Finger clinodactyly  (IAGP)
Flared metaphysis  (IAGP)
Frontal bossing  (IAGP)
Growth delay  (IAGP)
Hyperlordosis  (IAGP)
Hypoplasia of the radius  (IAGP)
Intellectual disability  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Limb undergrowth  (IAGP)
Limited elbow extension  (IAGP)
Long hallux  (IAGP)
Lower thoracic kyphosis  (IAGP)
Lumbar hyperlordosis  (IAGP)
Osteopenia  (IAGP)
Ovoid vertebral bodies  (IAGP)
Prominent forehead  (IAGP)
Proportionate short stature  (IAGP)
Radial bowing  (IAGP)
Redundant skin on fingers  (IAGP)
Scoliosis  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nail  (IAGP)
Short nose  (IAGP)
Short phalanx of finger  (IAGP)
Short toe  (IAGP)
Spastic paraplegia  (IAGP)
Sprengel anomaly  (IAGP)
Tall stature  (IAGP)
Thoracolumbar interpediculate narrowness  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Trident hand  (IAGP)
Vertebral wedging  (IAGP)
References

Additional References at PubMed
PMID:1309330   PMID:1327579   PMID:1660465   PMID:1672777   PMID:1979052   PMID:2570358   PMID:7679284   PMID:8765168   PMID:9624142   PMID:9634515   PMID:10073597   PMID:11208455  
PMID:11464256   PMID:11556325   PMID:12022755   PMID:12477932   PMID:12709393   PMID:14687666   PMID:14759258   PMID:14988324   PMID:15146390   PMID:15164053   PMID:15262909   PMID:15371450  
PMID:15459247   PMID:15489334   PMID:15911070   PMID:15911610   PMID:16870210   PMID:17429599   PMID:17652215   PMID:18945719   PMID:19086053   PMID:19108585   PMID:19167912   PMID:19326473  
PMID:19413180   PMID:19458086   PMID:19913121   PMID:20079378   PMID:20123316   PMID:20600420   PMID:20628086   PMID:20664698   PMID:20700369   PMID:20977274   PMID:21366551   PMID:21828054  
PMID:21873635   PMID:22039354   PMID:22133375   PMID:22421372   PMID:22633662   PMID:22645228   PMID:22658674   PMID:22691581   PMID:22870295   PMID:22884919   PMID:22949736   PMID:23186809  
PMID:23586811   PMID:23827346   PMID:23835779   PMID:24001744   PMID:24259409   PMID:24431432   PMID:24471569   PMID:24699414   PMID:25117468   PMID:25342443   PMID:25703509   PMID:25959430  
PMID:26075495   PMID:26567084   PMID:26760575   PMID:26888452   PMID:26926249   PMID:26980729   PMID:27283501   PMID:27941173   PMID:27994189   PMID:28319085   PMID:28450398   PMID:28765884  
PMID:29409758   PMID:30016695   PMID:30021884   PMID:30359775   PMID:30696704   PMID:31075302   PMID:31077548   PMID:31883339   PMID:31927522   PMID:31960617   PMID:31990356   PMID:32268070  
PMID:32506268   PMID:32720985   PMID:33073519  


Genomics

Comparative Map Data
NPR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,791,591 - 35,809,732 (+)EnsemblGRCh38hg38GRCh38
GRCh38935,782,086 - 35,809,731 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,791,588 - 35,809,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,782,406 - 35,799,728 (+)NCBINCBI36hg18NCBI36
Build 34935,782,405 - 35,799,709NCBI
Celera935,725,947 - 35,743,260 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,748,436 - 35,765,752 (+)NCBIHuRef
CHM1_1935,792,795 - 35,810,116 (+)NCBICHM1_1
Npr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,629,015 - 43,651,437 (+)NCBIGRCm39mm39
GRCm39 Ensembl443,631,935 - 43,651,244 (+)Ensembl
GRCm38443,629,015 - 43,651,437 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,631,935 - 43,651,244 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,644,807 - 43,664,116 (+)NCBIGRCm37mm9NCBIm37
MGSCv36443,653,035 - 43,672,344 (+)NCBImm8
Celera443,666,379 - 43,685,849 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.05NCBI
Npr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2557,883,171 - 57,901,590 (+)NCBI
Rnor_6.0 Ensembl559,128,315 - 59,147,255 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0559,128,186 - 59,147,321 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0563,652,957 - 63,672,114 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4560,107,563 - 60,127,960 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1560,107,741 - 60,128,139 (+)NCBI
Celera556,463,705 - 56,482,048 (+)NCBICelera
Cytogenetic Map5q22NCBI
Npr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472506,351 - 523,316 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955472506,351 - 523,647 (-)NCBIChiLan1.0ChiLan1.0
NPR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1936,445,576 - 36,462,637 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,445,576 - 36,462,637 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0935,642,534 - 35,660,210 (+)NCBIMhudiblu_PPA_v0panPan3
NPR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,283,680 - 52,339,247 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,321,590 - 52,339,249 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,888,024 - 50,906,818 (+)NCBI
ROS_Cfam_1.01153,385,429 - 53,404,264 (+)NCBI
UMICH_Zoey_3.11151,929,955 - 51,948,772 (+)NCBI
UNSW_CanFamBas_1.01151,913,486 - 51,932,996 (+)NCBI
UU_Cfam_GSD_1.01152,615,631 - 52,634,454 (+)NCBI
Npr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,231,815 - 167,250,482 (+)NCBI
SpeTri2.0NW_0049365243,779,398 - 3,798,074 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,508,998 - 236,529,154 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,508,994 - 236,529,172 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,233,393 - 264,254,186 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NPR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11244,795,822 - 44,844,464 (-)NCBI
ChlSab1.1 Ensembl1244,793,253 - 44,813,671 (-)Ensembl
Vero_WHO_p1.0NW_02366603841,900,466 - 41,949,193 (-)NCBI
Npr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248684,974,690 - 4,993,886 (-)NCBI

Position Markers
RH47078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,790,221 - 35,790,358UniSTSGRCh37
Build 36935,780,221 - 35,780,358RGDNCBI36
Celera935,723,762 - 35,723,899RGD
Cytogenetic Map9p21-p12UniSTS
HuRef935,746,517 - 35,746,654UniSTS
NPR2_7842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,809,452 - 35,809,851UniSTSGRCh37
Build 36935,799,452 - 35,799,851RGDNCBI36
Celera935,742,984 - 35,743,383RGD
HuRef935,765,476 - 35,765,875UniSTS
SHGC-12605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,809,611 - 35,809,951UniSTSGRCh37
Build 36935,799,611 - 35,799,951RGDNCBI36
Celera935,743,143 - 35,743,483RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p21-p12UniSTS
HuRef935,765,635 - 35,765,975UniSTS
Stanford-G3 RH Map91541.0UniSTS
GeneMap99-G3 RH Map91588.0UniSTS
STS-S83157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,809,748 - 35,809,944UniSTSGRCh37
Build 36935,799,748 - 35,799,944RGDNCBI36
Celera935,743,280 - 35,743,476RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p21-p12UniSTS
HuRef935,765,772 - 35,765,968UniSTS
GeneMap99-GB4 RH Map9155.84UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1019
Count of miRNA genes:540
Interacting mature miRNAs:611
Transcripts:ENST00000342694, ENST00000421267, ENST00000447210, ENST00000448821, ENST00000464810, ENST00000469249
Prediction methods: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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1814 1819 1214 203 249 133 3480 1412 2148 137 1231 1252 74 1185 2246 1
Low 616 633 505 417 1135 329 867 779 1567 276 207 344 98 1 19 542 2
Below cutoff 4 533 2 1 555 2 5 3 15 5 18 12 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY528561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU326311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342694   ⟹   ENSP00000341083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,792,154 - 35,809,732 (+)Ensembl
RefSeq Acc Id: ENST00000421267   ⟹   ENSP00000399204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,805,530 - 35,808,580 (+)Ensembl
RefSeq Acc Id: ENST00000447210   ⟹   ENSP00000393029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,806,085 - 35,809,712 (+)Ensembl
RefSeq Acc Id: ENST00000448821   ⟹   ENSP00000402902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,806,533 - 35,809,719 (+)Ensembl
RefSeq Acc Id: ENST00000464810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,792,409 - 35,809,732 (+)Ensembl
RefSeq Acc Id: ENST00000469249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,808,401 - 35,809,435 (+)Ensembl
RefSeq Acc Id: NM_001378923   ⟹   NP_001365852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,791,591 - 35,809,731 (+)NCBI
RefSeq Acc Id: NM_003995   ⟹   NP_003986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,791,591 - 35,809,731 (+)NCBI
GRCh37935,789,962 - 35,809,728 (+)NCBI
Build 36935,782,406 - 35,799,728 (+)NCBI Archive
HuRef935,748,436 - 35,765,752 (+)ENTREZGENE
CHM1_1935,792,795 - 35,810,116 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447556   ⟹   XP_024303324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,791,619 - 35,809,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447557   ⟹   XP_024303325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,791,620 - 35,809,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447558   ⟹   XP_024303326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,782,086 - 35,809,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447559   ⟹   XP_024303327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,800,753 - 35,809,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447560   ⟹   XP_024303328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,800,070 - 35,809,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447561   ⟹   XP_024303329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,793,898 - 35,809,719 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003986   ⟸   NM_003995
- Peptide Label: precursor
- UniProtKB: P20594 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303326   ⟸   XM_024447558
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024303324   ⟸   XM_024447556
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024303325   ⟸   XM_024447557
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303329   ⟸   XM_024447561
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024303328   ⟸   XM_024447560
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024303327   ⟸   XM_024447559
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001365852   ⟸   NM_001378923
- Peptide Label: precursor
RefSeq Acc Id: ENSP00000393029   ⟸   ENST00000447210
RefSeq Acc Id: ENSP00000402902   ⟸   ENST00000448821
RefSeq Acc Id: ENSP00000341083   ⟸   ENST00000342694
RefSeq Acc Id: ENSP00000399204   ⟸   ENST00000421267
Protein Domains
Guanylate cyclase   Protein kinase

Promoters
RGD ID:6807575
Promoter ID:HG_KWN:63112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000342694,   ENST00000378051,   OTTHUMT00000052346,   UC010MLB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,780,956 - 35,781,456 (+)MPROMDB
RGD ID:6807930
Promoter ID:HG_KWN:63113
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000052347,   OTTHUMT00000346409,   OTTHUMT00000346410
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,796,276 - 35,796,776 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_172312.2(SPAG8):c.1372+201G>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000548187] Chr9:35809203 [GRCh38]
Chr9:35809200 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.173G>C (p.Arg58Pro) single nucleotide variant not provided [RCV000519551] Chr9:35792581 [GRCh38]
Chr9:35792578 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.2647G>A (p.Val883Met) single nucleotide variant Epiphyseal chondrodysplasia, miura type [RCV000132560] Chr9:35807333 [GRCh38]
Chr9:35807330 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.1963C>T (p.Arg655Cys) single nucleotide variant Epiphyseal chondrodysplasia, miura type [RCV000132561] Chr9:35805586 [GRCh38]
Chr9:35805583 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.1462G>C (p.Ala488Pro) single nucleotide variant Epiphyseal chondrodysplasia, miura type [RCV000132562] Chr9:35801668 [GRCh38]
Chr9:35801665 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.1714A>T (p.Arg572Ter) single nucleotide variant not provided [RCV000520346] Chr9:35802506 [GRCh38]
Chr9:35802503 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.2653C>G (p.Leu885Val) single nucleotide variant not provided [RCV000520387] Chr9:35807339 [GRCh38]
Chr9:35807336 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.94C>A (p.Pro32Thr) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000019362] Chr9:35792502 [GRCh38]
Chr9:35792499 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.343T>G (p.Trp115Gly) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000019363] Chr9:35792751 [GRCh38]
Chr9:35792748 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.528T>A (p.Asp176Glu) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000019364] Chr9:35792936 [GRCh38]
Chr9:35792933 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.1162C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000019365]|Acromesomelic dysplasia, Maroteaux type [RCV001385133] Chr9:35800427 [GRCh38]
Chr9:35800424 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000768034]|Acromesomelic dysplasia, Maroteaux type [RCV000952311]|not specified [RCV000173314] Chr9:35792472 [GRCh38]
Chr9:35792469 [GRCh37]
Chr9:9p13.3
benign|likely benign|uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.12:g.35779547G>A single nucleotide variant Lung cancer [RCV000108319] Chr9:35779547 [GRCh38]
Chr9:35779544 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.3048G>T (p.Gln1016His) single nucleotide variant not provided [RCV000122514] Chr9:35809217 [GRCh38]
Chr9:35809214 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001348515] Chr9:35809406 [GRCh38]
Chr9:35809403 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.788G>A (p.Arg263His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001348167]|not provided [RCV001358437] Chr9:35794018 [GRCh38]
Chr9:35794015 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
NM_172312.2(SPAG8):c.1373-213A>G single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001319753]|not provided [RCV000175437] Chr9:35808519 [GRCh38]
Chr9:35808516 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_003995.3(NPR2):c.988-7C>A single nucleotide variant not provided [RCV000178204] Chr9:35800015 [GRCh38]
Chr9:35800012 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1092del (p.Ile364fs) deletion Acromesomelic dysplasia, Maroteaux type [RCV000190426]|Acromesomelic dysplasia, Maroteaux type [RCV001385132]|Short stature with nonspecific skeletal abnormalities [RCV000190427] Chr9:35800125 [GRCh38]
Chr9:35800122 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.2455C>T (p.Arg819Cys) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001362476]|Short stature with nonspecific skeletal abnormalities [RCV000190428] Chr9:35806474 [GRCh38]
Chr9:35806471 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_003995.3(NPR2):c.226T>C (p.Ser76Pro) single nucleotide variant Short stature with nonspecific skeletal abnormalities [RCV000190429] Chr9:35792634 [GRCh38]
Chr9:35792631 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.788G>C (p.Arg263Pro) single nucleotide variant Short stature with nonspecific skeletal abnormalities [RCV000190430] Chr9:35794018 [GRCh38]
Chr9:35794015 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.328C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001263517]|Short stature with nonspecific skeletal abnormalities [RCV000190431] Chr9:35792736 [GRCh38]
Chr9:35792733 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_003995.3(NPR2):c.1249C>G (p.Gln417Glu) single nucleotide variant Short stature with nonspecific skeletal abnormalities [RCV000190432] Chr9:35800739 [GRCh38]
Chr9:35800736 [GRCh37]
Chr9:9p13.3
pathogenic
NM_172312.2(SPAG8):c.1372+16T>G single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000298974]|Acromesomelic dysplasia, Maroteaux type [RCV001410358]|not provided [RCV000303783] Chr9:35809388 [GRCh38]
Chr9:35809385 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_003995.3(NPR2):c.2321C>T (p.Ala774Val) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001050909]|not provided [RCV000513739] Chr9:35806182 [GRCh38]
Chr9:35806179 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_003995.3(NPR2):c.987+1G>C single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000526471] Chr9:35799732 [GRCh38]
Chr9:35799729 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_172312.2(SPAG8):c.1373-251G>A single nucleotide variant not provided [RCV000521525] Chr9:35808557 [GRCh38]
Chr9:35808554 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.873+13C>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000321234] Chr9:35794116 [GRCh38]
Chr9:35794113 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.1644C>T (p.Val548=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000345822] Chr9:35802217 [GRCh38]
Chr9:35802214 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1572C>T (p.Tyr524=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000286069]|Acromesomelic dysplasia, Maroteaux type [RCV001503161]|not provided [RCV000950933] Chr9:35801940 [GRCh38]
Chr9:35801937 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.2261G>A (p.Arg754Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000347047] Chr9:35806122 [GRCh38]
Chr9:35806119 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.2337T>C (p.Phe779=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000398001]|not provided [RCV000920824] Chr9:35806198 [GRCh38]
Chr9:35806195 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.725G>A (p.Arg242Lys) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000375004]|Acromesomelic dysplasia, Maroteaux type [RCV001230881] Chr9:35793955 [GRCh38]
Chr9:35793952 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.18T>C (p.Leu6=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000273566]|Acromesomelic dysplasia, Maroteaux type [RCV001515144] Chr9:35792426 [GRCh38]
Chr9:35792423 [GRCh37]
Chr9:9p13.3
benign
NM_003995.3(NPR2):c.2712+11_2712+19del deletion Acromesomelic dysplasia [RCV000352779]|Acromesomelic dysplasia, Maroteaux type [RCV001515146] Chr9:35807405..35807413 [GRCh38]
Chr9:35807402..35807410 [GRCh37]
Chr9:9p13.3
benign
NM_003995.3(NPR2):c.2047+11C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000292126] Chr9:35805681 [GRCh38]
Chr9:35805678 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.1794C>T (p.Tyr598=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000381719]|Acromesomelic dysplasia, Maroteaux type [RCV001515145] Chr9:35802586 [GRCh38]
Chr9:35802583 [GRCh37]
Chr9:9p13.3
benign
NM_003995.3(NPR2):c.336C>G (p.Ala112=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000260578] Chr9:35792744 [GRCh38]
Chr9:35792741 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.2643+10A>G single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000311986]|Acromesomelic dysplasia, Maroteaux type [RCV000950581] Chr9:35807156 [GRCh38]
Chr9:35807153 [GRCh37]
Chr9:9p13.3
benign|likely benign|uncertain significance
NM_003995.3(NPR2):c.649A>T (p.Ile217Phe) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000315791]|Acromesomelic dysplasia, Maroteaux type [RCV000946345] Chr9:35793057 [GRCh38]
Chr9:35793054 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_172312.2(SPAG8):c.1373-323G>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000390082] Chr9:35808629 [GRCh38]
Chr9:35808626 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1393_1396del (p.Ile465fs) deletion not provided [RCV000331647] Chr9:35801110..35801113 [GRCh38]
Chr9:35801107..35801110 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.853G>A (p.Ala285Thr) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000266103] Chr9:35794083 [GRCh38]
Chr9:35794080 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.2327G>A (p.Arg776Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166431]|Acromesomelic dysplasia, Maroteaux type [RCV001300728]|not provided [RCV000328406] Chr9:35806188 [GRCh38]
Chr9:35806185 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.140C>T (p.Pro47Leu) single nucleotide variant not provided [RCV000490251] Chr9:35792548 [GRCh38]
Chr9:35792545 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.1132G>A (p.Gly378Arg) single nucleotide variant not provided [RCV000489591] Chr9:35800397 [GRCh38]
Chr9:35800394 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.1403T>G (p.Ile468Ser) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000380355] Chr9:35801121 [GRCh38]
Chr9:35801118 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.98A>C (p.Glu33Ala) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000333349] Chr9:35792506 [GRCh38]
Chr9:35792503 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.312T>C (p.Pro104=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000369095] Chr9:35792720 [GRCh38]
Chr9:35792717 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.830A>G (p.Asn277Ser) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001049354]|Acromesomelic dysplasia, Maroteaux type [RCV001168607]|Inborn genetic diseases [RCV000622943] Chr9:35794060 [GRCh38]
Chr9:35794057 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1813C>T (p.Gln605Ter) single nucleotide variant not provided [RCV000598797] Chr9:35802605 [GRCh38]
Chr9:35802602 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.779A>T (p.Glu260Val) single nucleotide variant Craniosynostosis syndrome [RCV000414841] Chr9:35794009 [GRCh38]
Chr9:35794006 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.2162_2172del (p.Ser721fs) deletion Craniosynostosis syndrome [RCV000415200] Chr9:35805944..35805954 [GRCh38]
Chr9:35805941..35805951 [GRCh37]
Chr9:9p13.3
likely pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
NM_003995.3(NPR2):c.1801C>T (p.Arg601Cys) single nucleotide variant not provided [RCV000728870] Chr9:35802593 [GRCh38]
Chr9:35802590 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1684C>T (p.Arg562Trp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001345857]|not provided [RCV000728874] Chr9:35802257 [GRCh38]
Chr9:35802254 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1758delC (p.Cys586Terfs) deletion Acromesomelic dysplasia, Maroteaux type [RCV000416331] Chr9:35802550 [GRCh38]
Chr9:35802547 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000416343]|Short stature with nonspecific skeletal abnormalities [RCV001262820] Chr9:35801153 [GRCh38]
Chr9:35801150 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.560T>A (p.Val187Asp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000416349] Chr9:35792968 [GRCh38]
Chr9:35792965 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.3(NPR2):c.2302T>C (p.Cys768Arg) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000416364] Chr9:35806163 [GRCh38]
Chr9:35806160 [GRCh37]
Chr9:9p13.3
pathogenic
NM_172312.2(SPAG8):c.1373-505C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000416371] Chr9:35808811 [GRCh38]
Chr9:35808808 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_172312.2(SPAG8):c.1373-527C>A single nucleotide variant Epilepsy, familial focal, with variable foci 2 [RCV000985136]|not provided [RCV000480765] Chr9:35808833 [GRCh38]
Chr9:35808830 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_172312.2(SPAG8):c.1373-372T>A single nucleotide variant not provided [RCV000479953] Chr9:35808678 [GRCh38]
Chr9:35808675 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1968dup (p.Val657fs) duplication not provided [RCV000479206] Chr9:35805587..35805588 [GRCh38]
Chr9:35805584..35805585 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.2542C>T (p.Arg848Trp) single nucleotide variant not provided [RCV000487025] Chr9:35807045 [GRCh38]
Chr9:35807042 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_172312.2(SPAG8):c.1373-323G>C single nucleotide variant not provided [RCV000498863] Chr9:35808629 [GRCh38]
Chr9:35808626 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1739C>G (p.Thr580Ser) single nucleotide variant not provided [RCV000493917] Chr9:35802531 [GRCh38]
Chr9:35802528 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.697C>T (p.Leu233=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168606]|Acromesomelic dysplasia, Maroteaux type [RCV001493441]|not provided [RCV000598099] Chr9:35793927 [GRCh38]
Chr9:35793924 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.668-1G>C single nucleotide variant Inborn genetic diseases [RCV000622938] Chr9:35793897 [GRCh38]
Chr9:35793894 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.701A>G (p.His234Arg) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000652335] Chr9:35793931 [GRCh38]
Chr9:35793928 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.2644G>A (p.Val882Ile) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000652336]|Acromesomelic dysplasia, Maroteaux type [RCV001198873] Chr9:35807330 [GRCh38]
Chr9:35807327 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.90G>A (p.Val30=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000652337]|Acromesomelic dysplasia, Maroteaux type [RCV001166891] Chr9:35792498 [GRCh38]
Chr9:35792495 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.477C>T (p.His159=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000652338] Chr9:35792885 [GRCh38]
Chr9:35792882 [GRCh37]
Chr9:9p13.3
likely benign
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
NM_003995.3(NPR2):c.668-4C>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000526583] Chr9:35793894 [GRCh38]
Chr9:35793891 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_003995.3(NPR2):c.1313C>A (p.Pro438His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000707442] Chr9:35800803 [GRCh38]
Chr9:35800800 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_172312.2(SPAG8):c.1373-201T>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000702502] Chr9:35808507 [GRCh38]
Chr9:35808504 [GRCh37]
Chr9:9p13.3
likely pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003995.3(NPR2):c.2105T>A (p.Met702Lys) single nucleotide variant not provided [RCV000938983] Chr9:35805887 [GRCh38]
Chr9:35805884 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.4(NPR2):c.2519+15C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166963] Chr9:35806553 [GRCh38]
Chr9:35806550 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.1032T>G (p.Tyr344Ter) single nucleotide variant Epilepsy, familial focal, with variable foci 2 [RCV000985134] Chr9:35800066 [GRCh38]
Chr9:35800063 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.1633-10C>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001169368]|Acromesomelic dysplasia, Maroteaux type [RCV001519763]|not provided [RCV000878601] Chr9:35802196 [GRCh38]
Chr9:35802193 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_003995.3(NPR2):c.243G>T (p.Pro81=) single nucleotide variant not provided [RCV000915173] Chr9:35792651 [GRCh38]
Chr9:35792648 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.966T>C (p.Gly322=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000922341] Chr9:35799710 [GRCh38]
Chr9:35799707 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.2409G>A (p.Leu803=) single nucleotide variant not provided [RCV000922735] Chr9:35806428 [GRCh38]
Chr9:35806425 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001064788] Chr9:35808636 [GRCh38]
Chr9:35808633 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003995.3(NPR2):c.1815+2T>C single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000778883] Chr9:35802609 [GRCh38]
Chr9:35802606 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_172312.2(SPAG8):c.1402G>A (p.Gly468Arg) single nucleotide variant not provided [RCV000878320] Chr9:35808277 [GRCh38]
Chr9:35808274 [GRCh37]
Chr9:9p13.3
benign
NM_003995.3(NPR2):c.2643+7G>A single nucleotide variant not provided [RCV000964594] Chr9:35807153 [GRCh38]
Chr9:35807150 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.298G>A (p.Gly100Ser) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000856598] Chr9:35792706 [GRCh38]
Chr9:35792703 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.3(NPR2):c.999C>A (p.Ile333=) single nucleotide variant not provided [RCV000909166] Chr9:35800033 [GRCh38]
Chr9:35800030 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.999C>T (p.Ile333=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000951633] Chr9:35800033 [GRCh38]
Chr9:35800030 [GRCh37]
Chr9:9p13.3
benign
NM_003995.3(NPR2):c.1155C>T (p.Asn385=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000951638] Chr9:35800420 [GRCh38]
Chr9:35800417 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.1236G>A (p.Ser412=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000951639] Chr9:35800726 [GRCh38]
Chr9:35800723 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.1351+10T>C single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000951775]|Acromesomelic dysplasia, Maroteaux type [RCV001169366] Chr9:35800851 [GRCh38]
Chr9:35800848 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.2634C>A (p.Thr878=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001497628]|not provided [RCV000943871] Chr9:35807137 [GRCh38]
Chr9:35807134 [GRCh37]
Chr9:9p13.3
likely benign
NM_172312.2(SPAG8):c.1372+147C>A single nucleotide variant not provided [RCV000899825] Chr9:35809257 [GRCh38]
Chr9:35809254 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.2260C>T (p.Arg754Trp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000792814] Chr9:35806121 [GRCh38]
Chr9:35806118 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.915G>A (p.Glu305=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001512778]|not provided [RCV000938004] Chr9:35799659 [GRCh38]
Chr9:35799656 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168609] Chr9:35799696 [GRCh38]
Chr9:35799693 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1887+11C>G single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166429] Chr9:35802814 [GRCh38]
Chr9:35802811 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166432]|Acromesomelic dysplasia, Maroteaux type [RCV001338330] Chr9:35806212 [GRCh38]
Chr9:35806209 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.*2C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168678] Chr9:35809447 [GRCh38]
Chr9:35809444 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.3(NPR2):c.2281C>T (p.Leu761=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000823336] Chr9:35806142 [GRCh38]
Chr9:35806139 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_172312.2(SPAG8):c.1373-203C>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000784968] Chr9:35808509 [GRCh38]
Chr9:35808506 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2450A>C (p.Glu817Ala) single nucleotide variant not provided [RCV001091825] Chr9:35806469 [GRCh38]
Chr9:35806466 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2721G>A (p.Thr907=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166965]|Acromesomelic dysplasia, Maroteaux type [RCV001464061] Chr9:35808517 [GRCh38]
Chr9:35808514 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.3(NPR2):c.897A>T (p.Arg299=) single nucleotide variant not provided [RCV000939242] Chr9:35799641 [GRCh38]
Chr9:35799638 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166428] Chr9:35802594 [GRCh38]
Chr9:35802591 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.3063G>C (p.Gly1021=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168677] Chr9:35809232 [GRCh38]
Chr9:35809229 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.*270A>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168679] Chr9:35809715 [GRCh38]
Chr9:35809712 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001214587] Chr9:35800758 [GRCh38]
Chr9:35800755 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1547C>T (p.Thr516Ile) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001218351] Chr9:35801753 [GRCh38]
Chr9:35801750 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.155C>A (p.Ala52Asp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001218352] Chr9:35792563 [GRCh38]
Chr9:35792560 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001249316] Chr9:35805545 [GRCh38]
Chr9:35805542 [GRCh37]
Chr9:9p13.3
not provided
NM_003995.4(NPR2):c.494G>A (p.Arg165His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001197478]|Short stature with nonspecific skeletal abnormalities [RCV001253507] Chr9:35792902 [GRCh38]
Chr9:35792899 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_172312.2(SPAG8):c.1373-527C>T single nucleotide variant Epilepsy, familial focal, with variable foci 2 [RCV000985135] Chr9:35808833 [GRCh38]
Chr9:35808830 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_003995.4(NPR2):c.653G>A (p.Arg218Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000988184] Chr9:35793061 [GRCh38]
Chr9:35793058 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2460A>C (p.Thr820=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166961]|Acromesomelic dysplasia, Maroteaux type [RCV001427871] Chr9:35806479 [GRCh38]
Chr9:35806476 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001248807] Chr9:35800077 [GRCh38]
Chr9:35800074 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_172312.2(SPAG8):c.1373-456G>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000952173] Chr9:35808762 [GRCh38]
Chr9:35808759 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.471C>T (p.His157=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001451118]|not provided [RCV000952261] Chr9:35792879 [GRCh38]
Chr9:35792876 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.2434T>C (p.Leu812=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000952262] Chr9:35806453 [GRCh38]
Chr9:35806450 [GRCh37]
Chr9:9p13.3
benign
NM_003995.3(NPR2):c.1554G>A (p.Ser518=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000903645] Chr9:35801760 [GRCh38]
Chr9:35801757 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.1629C>T (p.Phe543=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000953995] Chr9:35801997 [GRCh38]
Chr9:35801994 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.987+10T>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000946199] Chr9:35799741 [GRCh38]
Chr9:35799738 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.243G>A (p.Pro81=) single nucleotide variant not provided [RCV000927013] Chr9:35792651 [GRCh38]
Chr9:35792648 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.2359C>T (p.Arg787Trp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV000952008]|Acromesomelic dysplasia, Maroteaux type [RCV001166960] Chr9:35806220 [GRCh38]
Chr9:35806217 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001222851] Chr9:35802209 [GRCh38]
Chr9:35802206 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2523A>G (p.Ser841=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166964] Chr9:35807026 [GRCh38]
Chr9:35807023 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_172312.2(SPAG8):c.1373-244G>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001396673]|not provided [RCV000911347] Chr9:35808550 [GRCh38]
Chr9:35808547 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.3(NPR2):c.639C>T (p.Ala213=) single nucleotide variant not provided [RCV000934962] Chr9:35793047 [GRCh38]
Chr9:35793044 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.4(NPR2):c.2527del (p.Ala843fs) deletion not provided [RCV001008619] Chr9:35807029 [GRCh38]
Chr9:35807026 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001263518] Chr9:35794096 [GRCh38]
Chr9:35794093 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.422G>A (p.Arg141His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001263519] Chr9:35792830 [GRCh38]
Chr9:35792827 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.748del (p.Tyr250fs) deletion Acromesomelic dysplasia, Maroteaux type [RCV001263531] Chr9:35793977 [GRCh38]
Chr9:35793974 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001263532] Chr9:35805925 [GRCh38]
Chr9:35805922 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.1887+2T>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001263189] Chr9:35802805 [GRCh38]
Chr9:35802802 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.1215del (p.Gln406fs) deletion Acromesomelic dysplasia, Maroteaux type [RCV001264761] Chr9:35800478 [GRCh38]
Chr9:35800475 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_003995.4(NPR2):c.1517G>A (p.Arg506His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001045867] Chr9:35801723 [GRCh38]
Chr9:35801720 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166430] Chr9:35806113 [GRCh38]
Chr9:35806110 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1368G>A (p.Leu456=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001043084] Chr9:35801086 [GRCh38]
Chr9:35801083 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.190C>T (p.Leu64=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166892] Chr9:35792598 [GRCh38]
Chr9:35792595 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2840G>A (p.Arg947His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168676] Chr9:35808636 [GRCh38]
Chr9:35808633 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1198C>G (p.Leu400Val) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001248019] Chr9:35800463 [GRCh38]
Chr9:35800460 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1711-9T>G single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001169369] Chr9:35802494 [GRCh38]
Chr9:35802491 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001217004] Chr9:35800157 [GRCh38]
Chr9:35800154 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001046360] Chr9:35800803 [GRCh38]
Chr9:35800800 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001051659] Chr9:35807063 [GRCh38]
Chr9:35807060 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.833G>A (p.Arg278His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001168608] Chr9:35794063 [GRCh38]
Chr9:35794060 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1437-3C>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001169367] Chr9:35801640 [GRCh38]
Chr9:35801637 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2519+3G>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001166962] Chr9:35806541 [GRCh38]
Chr9:35806538 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p13.3(chr9:35799615-35808850) copy number loss Acromesomelic dysplasia, Maroteaux type [RCV001254041] Chr9:35799615..35808850 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter) single nucleotide variant Epiphyseal chondrodysplasia, miura type [RCV001253230]|Intellectual disability [RCV001255361] Chr9:35806127 [GRCh38]
Chr9:35806124 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.4(NPR2):c.2246G>A (p.Arg749Gln) single nucleotide variant Short stature with nonspecific skeletal abnormalities [RCV001253681] Chr9:35806107 [GRCh38]
Chr9:35806104 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1180C>T (p.Leu394Phe) single nucleotide variant Epiphyseal chondrodysplasia, miura type [RCV001253731] Chr9:35800445 [GRCh38]
Chr9:35800442 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001263097] Chr9:35800047 [GRCh38]
Chr9:35800044 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del) deletion Acromesomelic dysplasia, Maroteaux type [RCV001263098] Chr9:35809412..35809414 [GRCh38]
Chr9:35809409..35809411 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2870G>A (p.Arg957His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001264759] Chr9:35808666 [GRCh38]
Chr9:35808663 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001261880]|Acromesomelic dysplasia, Maroteaux type [RCV001298442] Chr9:35793069 [GRCh38]
Chr9:35793066 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001262119] Chr9:35809198 [GRCh38]
Chr9:35809195 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.329G>A (p.Arg110His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001260933] Chr9:35792737 [GRCh38]
Chr9:35792734 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001260934] Chr9:35792422 [GRCh38]
Chr9:35792419 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.263A>C (p.Lys88Thr) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001294625] Chr9:35792671 [GRCh38]
Chr9:35792668 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1802G>A (p.Arg601His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001348302] Chr9:35802594 [GRCh38]
Chr9:35802591 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001261881]|Acromesomelic dysplasia, Maroteaux type [RCV001302840] Chr9:35802246 [GRCh38]
Chr9:35802243 [GRCh37]
Chr9:9p13.3
likely pathogenic|uncertain significance
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001261879] Chr9:35800428 [GRCh38]
Chr9:35800425 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.873+3A>G single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001264760] Chr9:35794106 [GRCh38]
Chr9:35794103 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln) single nucleotide variant Epilepsy, familial focal, with variable foci 2 [RCV001283791] Chr9:35809228 [GRCh38]
Chr9:35809225 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001262118]|Acromesomelic dysplasia, Maroteaux type [RCV001385134] Chr9:35808516 [GRCh38]
Chr9:35808513 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001301270] Chr9:35793979 [GRCh38]
Chr9:35793976 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001295789] Chr9:35807132 [GRCh38]
Chr9:35807129 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys) single nucleotide variant Short stature with nonspecific skeletal abnormalities [RCV001293679] Chr9:35800739 [GRCh38]
Chr9:35800736 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter) single nucleotide variant Short stature with nonspecific skeletal abnormalities [RCV001293708] Chr9:35806160 [GRCh38]
Chr9:35806157 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001349035] Chr9:35806448 [GRCh38]
Chr9:35806445 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2150T>C (p.Ile717Thr) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001303062] Chr9:35805932 [GRCh38]
Chr9:35805929 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.3078+16G>T single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001334197] Chr9:35809263 [GRCh38]
Chr9:35809260 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.953G>A (p.Arg318Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001296868] Chr9:35799697 [GRCh38]
Chr9:35799694 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1589C>A (p.Ala530Asp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001338924] Chr9:35801957 [GRCh38]
Chr9:35801954 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2363G>A (p.Arg788His) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001373929] Chr9:35806224 [GRCh38]
Chr9:35806221 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_35683146)_(36277049_?)dup duplication Distal arthrogryposis type 1A [RCV001345686]|Spastic paraplegia [RCV001362983] Chr9:35683146..36277049 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.65C>T (p.Ala22Val) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001346394] Chr9:35792473 [GRCh38]
Chr9:35792470 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1839C>G (p.Ile613Met) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001343671] Chr9:35802755 [GRCh38]
Chr9:35802752 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001319063] Chr9:35802760 [GRCh38]
Chr9:35802757 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2360G>A (p.Arg787Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001372461] Chr9:35806221 [GRCh38]
Chr9:35806218 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001339247] Chr9:35806223 [GRCh38]
Chr9:35806220 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.652C>T (p.Arg218Trp) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001340432] Chr9:35793060 [GRCh38]
Chr9:35793057 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1948T>G (p.Cys650Gly) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001359760] Chr9:35805571 [GRCh38]
Chr9:35805568 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3
pathogenic
NM_003995.4(NPR2):c.2463G>A (p.Gln821=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001331148] Chr9:35806482 [GRCh38]
Chr9:35806479 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001337490] Chr9:35809420 [GRCh38]
Chr9:35809417 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_003995.4(NPR2):c.1557+1G>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001378048] Chr9:35801764 [GRCh38]
Chr9:35801761 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_003995.4(NPR2):c.2988G>A (p.Ala996=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001444391] Chr9:35809157 [GRCh38]
Chr9:35809154 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.4(NPR2):c.2118C>T (p.Asp706=) single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001405984] Chr9:35805900 [GRCh38]
Chr9:35805897 [GRCh37]
Chr9:9p13.3
likely benign
NM_003995.4(NPR2):c.1815+3G>A single nucleotide variant Acromesomelic dysplasia, Maroteaux type [RCV001495297] Chr9:35802610 [GRCh38]
Chr9:35802607 [GRCh37]
Chr9:9p13.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7944 AgrOrtholog
COSMIC NPR2 COSMIC
Ensembl Genes ENSG00000159899 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341083 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393029 UniProtKB/TrEMBL
  ENSP00000399204 UniProtKB/TrEMBL
  ENSP00000402902 UniProtKB/TrEMBL
Ensembl Transcript ENST00000342694 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421267 UniProtKB/TrEMBL
  ENST00000447210 UniProtKB/TrEMBL
  ENST00000448821 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159899 GTEx
HGNC ID HGNC:7944 ENTREZGENE
Human Proteome Map NPR2 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot
  ANF_lig-bd_rcpt UniProtKB/Swiss-Prot
  ANPR/GUC UniProtKB/Swiss-Prot
  Haem_no_assoc-bd UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripla_BP_I UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/TrEMBL
KEGG Report hsa:4882 UniProtKB/Swiss-Prot
NCBI Gene 4882 ENTREZGENE
OMIM 108961 OMIM
  602875 OMIM
  615923 OMIM
  616255 OMIM
Pfam ANF_receptor UniProtKB/Swiss-Prot
  Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOBA UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB NPR2 RGD, PharmGKB
PRINTS NATPEPTIDER UniProtKB/Swiss-Prot
PROSITE ANF_RECEPTORS UniProtKB/Swiss-Prot
  GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/TrEMBL
Superfamily-SCOP SSF53822 UniProtKB/Swiss-Prot
  SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NJF2_HUMAN UniProtKB/TrEMBL
  ANPRB_HUMAN UniProtKB/Swiss-Prot
  H7C056_HUMAN UniProtKB/TrEMBL
  H7C1A1_HUMAN UniProtKB/TrEMBL
  H7C1X0_HUMAN UniProtKB/TrEMBL
  P20594 ENTREZGENE
UniProt Secondary B0ZBF2 UniProtKB/Swiss-Prot
  B0ZBF3 UniProtKB/Swiss-Prot
  D3DRP3 UniProtKB/Swiss-Prot
  D3DRP4 UniProtKB/Swiss-Prot
  O60871 UniProtKB/Swiss-Prot
  Q4VAK7 UniProtKB/Swiss-Prot
  Q5TCV2 UniProtKB/Swiss-Prot
  Q8TA93 UniProtKB/Swiss-Prot
  Q9UQ50 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 NPR2  natriuretic peptide receptor 2  AMDM  acromesomelic dysplasia, Maroteaux type  Data Merged 737654 PROVISIONAL
2014-03-05 NPR2  natriuretic peptide receptor 2    natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)  Symbol and/or name change 5135510 APPROVED
2011-08-16 NPR2  natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)  NPR2  natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)  Symbol and/or name change 5135510 APPROVED