BMPR1B (bone morphogenetic protein receptor type 1B) - Rat Genome Database

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Pathways
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Gene: BMPR1B (bone morphogenetic protein receptor type 1B) Homo sapiens
Analyze
Symbol: BMPR1B
Name: bone morphogenetic protein receptor type 1B
RGD ID: 1354405
HGNC Page HGNC:1077
Description: Enables several functions, including ATP binding activity; BMP binding activity; and BMP receptor activity. Involved in several processes, including BMP signaling pathway; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to be located in dendrite; membrane; and neuronal cell body. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Implicated in acromesomelic dysplasia-3; brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. Biomarker of asthma and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activin receptor-like kinase 6; ALK-6; ALK6; AMD3; AMDD; BDA1D; BDA2; BMP type-1B receptor; BMPR-1B; bone morphogenetic protein receptor type IB; bone morphogenetic protein receptor type-1B; bone morphogenetic protein receptor, type IB; CDw293; serine/threonine receptor kinase
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
GRCh38494,757,955 - 95,158,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl494,757,955 - 95,158,448 (+)EnsemblGRCh38hg38GRCh38
GRCh37495,679,106 - 96,079,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36495,898,151 - 96,295,099 (+)NCBINCBI36Build 36hg18NCBI36
Build 34496,036,305 - 96,433,254NCBI
Celera493,094,009 - 93,376,257 (+)NCBICelera
Cytogenetic Map4q22.3NCBI
HuRef491,416,328 - 91,816,286 (+)NCBIHuRef
CHM1_1495,656,120 - 96,056,666 (+)NCBICHM1_1
T2T-CHM13v2.0498,073,083 - 98,473,123 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
BMP signaling pathway  (IBA,IDA,IEA,ISO,NAS)
bone development  (IEA)
camera-type eye development  (IEA,ISO)
cartilage condensation  (IEA,ISO)
cartilage development  (IEA)
cell differentiation  (IEA,ISO)
cell surface receptor protein serine/threonine kinase signaling pathway  (IEA,ISO)
cellular response to BMP stimulus  (IMP)
cellular response to growth factor stimulus  (IBA,IEA)
central nervous system neuron differentiation  (IEA,ISO)
chondrocyte development  (ISS)
chondrocyte differentiation  (IEA,ISO)
dorsal/ventral pattern formation  (IBA,IEA,ISO)
endochondral bone morphogenesis  (ISS)
eye development  (IEA,ISO,ISS)
inflammatory response  (IEA)
negative regulation of apoptotic process  (ISO)
negative regulation of chondrocyte proliferation  (ISS)
osteoblast differentiation  (IEA,IMP)
ovarian cumulus expansion  (IEA,ISS)
ovulation cycle  (IEA,ISS)
positive regulation of bone mineralization  (IMP)
positive regulation of cartilage development  (ISS)
positive regulation of cell population proliferation  (ISO)
positive regulation of chondrocyte differentiation  (ISS)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  (IEA,ISO)
positive regulation of gene expression  (IMP)
positive regulation of metabolic process  (IEA)
positive regulation of osteoblast differentiation  (IMP)
positive regulation of transcription by RNA polymerase II  (IMP)
proteoglycan biosynthetic process  (ISS)
regulation of multicellular organismal process  (IEA)
retina development in camera-type eye  (IEA,ISO)
retinal ganglion cell axon guidance  (IEA,ISO)
transforming growth factor beta receptor superfamily signaling pathway  (IEA)

Cellular Component
dendrite  (IEA,ISO)
HFE-transferrin receptor complex  (IC)
membrane  (IEA)
neuronal cell body  (IEA,ISO)
plasma membrane  (IBA,IEA,ISS,TAS)
receptor complex  (IBA,IEA,TAS)

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormal morphology of the radius  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormal tibia morphology  (IAGP)
Aplasia of the middle phalanges of the toes  (IAGP)
Aplasia of the proximal phalanx of the 2nd finger  (IAGP)
Aplasia/Hypoplasia involving the metacarpal bones  (IAGP)
Aplasia/Hypoplasia of the 1st metacarpal  (IAGP)
Aplasia/Hypoplasia of the fibula  (IAGP)
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger  (IAGP)
Aplasia/Hypoplasia of the middle phalanx of the 5th finger  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Broad hallux  (IAGP)
Broad metacarpals  (IAGP)
Carpal synostosis  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Complete duplication of distal phalanx of the thumb  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital onset  (IAGP)
Death in infancy  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Distal symphalangism of hands  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Fibular aplasia  (IAGP)
Fibular hypoplasia  (IAGP)
Hallux valgus  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplasia of the uterus  (IAGP)
Joint stiffness  (IAGP)
Limb undergrowth  (IAGP)
Limitation of joint mobility  (IAGP)
Medially deviated second toe  (IAGP)
Metatarsus valgus  (IAGP)
Micromelia  (IAGP)
Narrow nasal bridge  (IAGP)
Poor motor coordination  (IAGP)
Postaxial hand polydactyly  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Pseudoepiphysis of the 2nd finger  (IAGP)
Radial deviation of finger  (IAGP)
Radial deviation of the 2nd finger  (IAGP)
Sarcoma  (IAGP)
Scoliosis  (IAGP)
Short 1st metacarpal  (IAGP)
Short 2nd finger  (IAGP)
Short 2nd metacarpal  (IAGP)
Short distal phalanx of the 2nd finger  (IAGP)
Short distal phalanx of the thumb  (IAGP)
Short femoral neck  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short metatarsal  (IAGP)
Short middle phalanx of finger  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short phalanx of finger  (IAGP)
Short proximal phalanx of finger  (IAGP)
Short proximal phalanx of thumb  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Short tibia  (IAGP)
Short toe  (IAGP)
Skeletal dysplasia  (IAGP)
Stippling of the epiphysis of the distal phalanx of the thumb  (IAGP)
Symphalangism affecting the phalanges of the hand  (IAGP)
Synostosis of carpal bones  (IAGP)
Talipes equinovarus  (IAGP)
Tarsal synostosis  (IAGP)
Triangular shaped middle phalanx of the 2nd finger  (IAGP)
Triangular shaped middle phalanx of the 5th finger  (IAGP)
Type A2 brachydactyly  (IAGP)
Type C brachydactyly  (IAGP)
Ulnar deviation of finger  (IAGP)
Ulnar deviation of the 2nd finger  (IAGP)
Widened proximal tibial metaphyses  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. Demirhan O, etal., J Med Genet. 2005 Apr;42(4):314-7.
2. Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension. Dewachter L, etal., Eur Respir J. 2009 Nov;34(5):1100-10. Epub 2009 Mar 26.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Basal expression of bone morphogenetic protein receptor is reduced in mild asthma. Kariyawasam HH, etal., Am J Respir Crit Care Med. 2008 May 15;177(10):1074-81. Epub 2008 Feb 21.
5. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Lehmann K, etal., Proc Natl Acad Sci U S A 2003 Oct 14;100(21):12277-82. Epub 2003 Oct 01.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7791754   PMID:7811286   PMID:8006002   PMID:8140412   PMID:8605097   PMID:8702914   PMID:8707881   PMID:9178898   PMID:9436979   PMID:9525338   PMID:9730621   PMID:9872992  
PMID:9950587   PMID:10051328   PMID:10504300   PMID:10712517   PMID:10850425   PMID:10854429   PMID:11266516   PMID:11279102   PMID:11282024   PMID:11312159   PMID:11401330   PMID:11420127  
PMID:11483516   PMID:11549681   PMID:11781009   PMID:12065756   PMID:12135884   PMID:12419820   PMID:12477932   PMID:12857866   PMID:14576167   PMID:15064755   PMID:15192043   PMID:15235019  
PMID:15489334   PMID:15611116   PMID:15621726   PMID:15671031   PMID:15761153   PMID:15775969   PMID:15897891   PMID:16014698   PMID:16127465   PMID:16436528   PMID:17001689   PMID:17203235  
PMID:17356069   PMID:17363346   PMID:17381068   PMID:17624341   PMID:18070108   PMID:18184661   PMID:18326817   PMID:18436533   PMID:18619554   PMID:18758450   PMID:18773965   PMID:19135982  
PMID:19229295   PMID:19451094   PMID:19453261   PMID:19513897   PMID:19738052   PMID:19758997   PMID:19782107   PMID:19953087   PMID:20201926   PMID:20301658   PMID:20587070   PMID:20634891  
PMID:20673479   PMID:20732626   PMID:20734064   PMID:21152263   PMID:21556765   PMID:21791611   PMID:21832049   PMID:21873635   PMID:21976273   PMID:22293501   PMID:22294741   PMID:22374147  
PMID:22384028   PMID:22971142   PMID:24008158   PMID:24021264   PMID:24098149   PMID:24100446   PMID:24129431   PMID:24339876   PMID:24529757   PMID:24850914   PMID:24904118   PMID:25601208  
PMID:25758993   PMID:25776145   PMID:25872870   PMID:26105076   PMID:26186194   PMID:26562759   PMID:26684357   PMID:26701726   PMID:26805635   PMID:26926249   PMID:27720933   PMID:28214897  
PMID:28357470   PMID:28418932   PMID:28514442   PMID:28611215   PMID:29113831   PMID:29192325   PMID:29322508   PMID:29581481   PMID:30713213   PMID:31769494   PMID:32001529   PMID:32460013  
PMID:32764110   PMID:33215411   PMID:33308444   PMID:33486847   PMID:33845483   PMID:33961781   PMID:34857952   PMID:35501253  


Genomics

Comparative Map Data
BMPR1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38494,757,955 - 95,158,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl494,757,955 - 95,158,448 (+)EnsemblGRCh38hg38GRCh38
GRCh37495,679,106 - 96,079,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36495,898,151 - 96,295,099 (+)NCBINCBI36Build 36hg18NCBI36
Build 34496,036,305 - 96,433,254NCBI
Celera493,094,009 - 93,376,257 (+)NCBICelera
Cytogenetic Map4q22.3NCBI
HuRef491,416,328 - 91,816,286 (+)NCBIHuRef
CHM1_1495,656,120 - 96,056,666 (+)NCBICHM1_1
T2T-CHM13v2.0498,073,083 - 98,473,123 (+)NCBIT2T-CHM13v2.0
Bmpr1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393141,540,230 - 141,875,335 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3141,542,897 - 141,875,186 (-)EnsemblGRCm39 Ensembl
GRCm383141,837,135 - 142,169,585 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3141,837,136 - 142,169,425 (-)EnsemblGRCm38mm10GRCm38
MGSCv373141,500,100 - 141,645,215 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363141,774,523 - 141,919,638 (-)NCBIMGSCv36mm8
Celera3148,249,912 - 148,405,204 (-)NCBICelera
Cytogenetic Map3H1NCBI
cM Map366.11NCBI
Bmpr1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82233,211,525 - 233,544,344 (-)NCBIGRCr8
mRatBN7.22230,538,252 - 230,871,077 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2230,541,558 - 230,871,368 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2238,293,725 - 238,626,557 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02236,186,745 - 236,519,586 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02231,051,401 - 231,384,251 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02247,392,195 - 247,662,026 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2247,403,920 - 247,446,882 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02265,932,565 - 266,183,671 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42239,727,569 - 239,767,802 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2222,597,416 - 222,630,407 (-)NCBICelera
Cytogenetic Map2q44NCBI
Bmpr1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554055,700,162 - 5,787,957 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554055,408,171 - 5,784,930 (+)NCBIChiLan1.0ChiLan1.0
BMPR1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2392,790,686 - 93,189,678 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1493,069,922 - 93,463,944 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0487,125,911 - 87,523,084 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1497,912,541 - 98,194,890 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl498,088,072 - 98,195,848 (+)Ensemblpanpan1.1panPan2
BMPR1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13217,761,555 - 17,978,056 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3217,870,904 - 18,016,444 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3223,966,621 - 24,007,268 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03217,942,009 - 18,159,433 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3217,896,212 - 18,157,297 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13218,086,524 - 18,127,395 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03217,908,347 - 17,949,143 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03221,943,473 - 21,984,364 (-)NCBIUU_Cfam_GSD_1.0
Bmpr1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530123,751,702 - 24,000,364 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366872,503,777 - 2,597,522 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366872,346,601 - 2,595,283 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMPR1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8124,536,653 - 124,759,406 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18124,536,648 - 125,035,841 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28133,742,891 - 134,240,938 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BMPR1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603721,372,638 - 21,773,741 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmpr1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475722,955,666 - 23,142,499 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475722,697,639 - 23,142,209 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMPR1B
357 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) single nucleotide variant BMPR1B-related condition [RCV003979974]|Brachydactyly type A2 [RCV000536098] Chr4:95123890 [GRCh38]
Chr4:96045041 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) deletion Acromesomelic dysplasia 3 [RCV000006935] Chr4:95123819..95123826 [GRCh38]
Chr4:96044970..96044977 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) single nucleotide variant Brachydactyly type A2 [RCV000519599] Chr4:95129916 [GRCh38]
Chr4:96051067 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys) single nucleotide variant Brachydactyly type A2 [RCV000006933] Chr4:95129875 [GRCh38]
Chr4:96051026 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp) single nucleotide variant Brachydactyly type A2 [RCV000006934]|not provided [RCV003233066] Chr4:95154620 [GRCh38]
Chr4:96075771 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln) single nucleotide variant BMPR1B-related condition [RCV003398455]|Brachydactyly type A2 [RCV000006936] Chr4:95154621 [GRCh38]
Chr4:96075772 [GRCh37]
Chr4:4q22.3		 pathogenic|likely pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q22.3-23(chr4:94954967-98967243)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053320]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053320]|See cases [RCV000053320] Chr4:94954967..98967243 [GRCh38]
Chr4:95876118..99888394 [GRCh37]
Chr4:96095141..100107417 [NCBI36]
Chr4:4q22.3-23		 pathogenic
NM_001203.2(BMPR1B):c.281A>T (p.Glu94Val) single nucleotide variant Malignant melanoma [RCV000061075] Chr4:95115719 [GRCh38]
Chr4:96036870 [GRCh37]
Chr4:96255893 [NCBI36]
Chr4:4q22.3		 not provided
NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) single nucleotide variant Brachydactyly type A2 [RCV001302498] Chr4:95148906 [GRCh38]
Chr4:96070057 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh38/hg38 4q22.3(chr4:94901973-95207176)x1 copy number loss See cases [RCV000134180] Chr4:94901973..95207176 [GRCh38]
Chr4:95823124..96128327 [GRCh37]
Chr4:96042147..96347350 [NCBI36]
Chr4:4q22.3		 likely benign|uncertain significance
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3		 pathogenic
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) single nucleotide variant BMPR1B-related condition [RCV003937763]|Brachydactyly [RCV000276420]|Brachydactyly type A2 [RCV000873737]|not provided [RCV003430759]|not specified [RCV000202696] Chr4:95123878 [GRCh38]
Chr4:96045029 [GRCh37]
Chr4:4q22.3		 benign|likely benign
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24		 pathogenic
GRCh38/hg38 4q22.3(chr4:94616498-95446867)x3 copy number gain See cases [RCV000138316] Chr4:94616498..95446867 [GRCh38]
Chr4:95537649..96368018 [GRCh37]
Chr4:95756672..96587041 [NCBI36]
Chr4:4q22.3		 uncertain significance
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24		 pathogenic
GRCh38/hg38 4q22.3(chr4:94580110-95188656)x3 copy number gain See cases [RCV000140875] Chr4:94580110..95188656 [GRCh38]
Chr4:95501261..96109807 [GRCh37]
Chr4:95720284..96328830 [NCBI36]
Chr4:4q22.3		 likely benign|uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
NM_001203.3(BMPR1B):c.*3221T>C single nucleotide variant Brachydactyly [RCV000262853] Chr4:95157894 [GRCh38]
Chr4:96079045 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*2125G>T single nucleotide variant Brachydactyly [RCV000260304] Chr4:95156798 [GRCh38]
Chr4:96077949 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His) single nucleotide variant Brachydactyly [RCV000263624]|Brachydactyly type A2 [RCV001861244] Chr4:95104516 [GRCh38]
Chr4:96025667 [GRCh37]
Chr4:4q22.3		 benign|likely benign|uncertain significance
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) single nucleotide variant Acromesomelic dysplasia 3 [RCV000201128] Chr4:95104515 [GRCh38]
Chr4:96025666 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) single nucleotide variant Acromesomelic dysplasia 3 [RCV000201167] Chr4:95114733 [GRCh38]
Chr4:96035884 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) single nucleotide variant Acromesomelic dysplasia 3 [RCV000201044] Chr4:95129933 [GRCh38]
Chr4:96051084 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.*9G>C single nucleotide variant Brachydactyly [RCV000300815]|not provided [RCV001551563]|not specified [RCV000402512] Chr4:95154682 [GRCh38]
Chr4:96075833 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.447-1G>A single nucleotide variant Brachydactyly type A1D [RCV000208781] Chr4:95124982 [GRCh38]
Chr4:96046133 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.975A>C (p.Lys325Asn) single nucleotide variant Brachydactyly type A1D [RCV000208782] Chr4:95131411 [GRCh38]
Chr4:96052562 [GRCh37]
Chr4:4q22.3		 pathogenic
GRCh37/hg19 4q22.3(chr4:95987699-96171863)x3 copy number gain not provided [RCV000762747] Chr4:95987699..96171863 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg) single nucleotide variant Brachydactyly type A2 [RCV002001441] Chr4:95148771 [GRCh38]
Chr4:96069922 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*824_*834del deletion Brachydactyly [RCV000278871] Chr4:95155476..95155486 [GRCh38]
Chr4:96076627..96076637 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*641C>T single nucleotide variant Brachydactyly [RCV000284519] Chr4:95155314 [GRCh38]
Chr4:96076465 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp) single nucleotide variant BMPR1B-related condition [RCV003418072]|Brachydactyly [RCV000283012]|Brachydactyly type A2 [RCV001861246] Chr4:95148776 [GRCh38]
Chr4:96069927 [GRCh37]
Chr4:4q22.3		 benign|likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*141C>T single nucleotide variant Brachydactyly [RCV000273899]|Brachydactyly type A2 [RCV000639570]|not provided [RCV001723951] Chr4:95154814 [GRCh38]
Chr4:96075965 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95492115-96061295)x3 copy number gain See cases [RCV000240244] Chr4:95492115..96061295 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) single nucleotide variant Brachydactyly [RCV000275106]|Brachydactyly type A2 [RCV000546467] Chr4:95129981 [GRCh38]
Chr4:96051132 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*1899A>G single nucleotide variant Brachydactyly [RCV000268572] Chr4:95156572 [GRCh38]
Chr4:96077723 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*413G>A single nucleotide variant Brachydactyly [RCV000266705] Chr4:95155086 [GRCh38]
Chr4:96076237 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*2949A>G single nucleotide variant Brachydactyly [RCV000298393] Chr4:95157622 [GRCh38]
Chr4:96078773 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2216C>G single nucleotide variant Brachydactyly [RCV000374607] Chr4:95156889 [GRCh38]
Chr4:96078040 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*1361G>A single nucleotide variant Brachydactyly [RCV000397368] Chr4:95156034 [GRCh38]
Chr4:96077185 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*860T>C single nucleotide variant Brachydactyly [RCV000315314] Chr4:95155533 [GRCh38]
Chr4:96076684 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) single nucleotide variant BMPR1B-related condition [RCV003957811]|Brachydactyly [RCV000333918]|Brachydactyly type A2 [RCV000873792]|not provided [RCV003437113] Chr4:95123905 [GRCh38]
Chr4:96045056 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*3303G>A single nucleotide variant Brachydactyly [RCV000333653] Chr4:95157976 [GRCh38]
Chr4:96079127 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*3101A>G single nucleotide variant Brachydactyly [RCV000353318] Chr4:95157774 [GRCh38]
Chr4:96078925 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*49C>T single nucleotide variant Brachydactyly [RCV000334745]|not provided [RCV001613155] Chr4:95154722 [GRCh38]
Chr4:96075873 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*1972C>A single nucleotide variant Brachydactyly [RCV000355066] Chr4:95156645 [GRCh38]
Chr4:96077796 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.247-9C>T single nucleotide variant Brachydactyly [RCV000355018]|Brachydactyly type A2 [RCV001450623] Chr4:95115676 [GRCh38]
Chr4:96036827 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.150C>T (p.Asp50=) single nucleotide variant Brachydactyly [RCV000316617]|Brachydactyly type A2 [RCV002057970] Chr4:95114726 [GRCh38]
Chr4:96035877 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*2453A>G single nucleotide variant Brachydactyly [RCV000302359] Chr4:95157126 [GRCh38]
Chr4:96078277 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*3255C>G single nucleotide variant Brachydactyly [RCV000318020] Chr4:95157928 [GRCh38]
Chr4:96079079 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*762T>C single nucleotide variant Brachydactyly [RCV000337182] Chr4:95155435 [GRCh38]
Chr4:96076586 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) single nucleotide variant Brachydactyly [RCV000379873]|Brachydactyly type A2 [RCV001071284] Chr4:95148773 [GRCh38]
Chr4:96069924 [GRCh37]
Chr4:4q22.3		 benign|likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*2433A>G single nucleotide variant Brachydactyly [RCV000404488] Chr4:95157106 [GRCh38]
Chr4:96078257 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*109G>A single nucleotide variant Brachydactyly [RCV000404712] Chr4:95154782 [GRCh38]
Chr4:96075933 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) single nucleotide variant Brachydactyly [RCV000288161]|Brachydactyly type A2 [RCV002057971] Chr4:95131327 [GRCh38]
Chr4:96052478 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*3679G>A single nucleotide variant Brachydactyly [RCV000290109] Chr4:95158352 [GRCh38]
Chr4:96079503 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu) single nucleotide variant Brachydactyly [RCV000340460]|Brachydactyly type A2 [RCV003766021] Chr4:95148783 [GRCh38]
Chr4:96069934 [GRCh37]
Chr4:4q22.3		 benign|likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*2776A>G single nucleotide variant Brachydactyly [RCV000405833] Chr4:95157449 [GRCh38]
Chr4:96078600 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*3646G>A single nucleotide variant Brachydactyly [RCV000384479] Chr4:95158319 [GRCh38]
Chr4:96079470 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) single nucleotide variant Brachydactyly [RCV000384921]|Brachydactyly type A2 [RCV001861245] Chr4:95130038 [GRCh38]
Chr4:96051189 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*1013C>T single nucleotide variant Brachydactyly [RCV000406513] Chr4:95155686 [GRCh38]
Chr4:96076837 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*2302G>A single nucleotide variant Brachydactyly [RCV000407842] Chr4:95156975 [GRCh38]
Chr4:96078126 [GRCh37]
Chr4:4q22.3		 pathogenic|uncertain significance
NM_001203.3(BMPR1B):c.*2332T>A single nucleotide variant Brachydactyly [RCV000291791] Chr4:95157005 [GRCh38]
Chr4:96078156 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*1971C>G single nucleotide variant Brachydactyly [RCV000323732] Chr4:95156644 [GRCh38]
Chr4:96077795 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) single nucleotide variant BMPR1B-related condition [RCV003950237]|Brachydactyly [RCV000386085]|Brachydactyly type A2 [RCV001235116]|not provided [RCV003226923] Chr4:95129947 [GRCh38]
Chr4:96051098 [GRCh37]
Chr4:4q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001203.3(BMPR1B):c.*487G>T single nucleotide variant Brachydactyly [RCV000324519] Chr4:95155160 [GRCh38]
Chr4:96076311 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*196A>G single nucleotide variant Brachydactyly [RCV000364898]|not provided [RCV001692008] Chr4:95154869 [GRCh38]
Chr4:96076020 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*3618G>A single nucleotide variant Brachydactyly [RCV000325408] Chr4:95158291 [GRCh38]
Chr4:96079442 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*2257C>G single nucleotide variant Brachydactyly [RCV000345374] Chr4:95156930 [GRCh38]
Chr4:96078081 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*3328A>G single nucleotide variant Brachydactyly [RCV000388174] Chr4:95158001 [GRCh38]
Chr4:96079152 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*2217T>C single nucleotide variant Brachydactyly [RCV000294259] Chr4:95156890 [GRCh38]
Chr4:96078041 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*1559A>G single nucleotide variant Brachydactyly [RCV000308623] Chr4:95156232 [GRCh38]
Chr4:96077383 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*1113G>A single nucleotide variant Brachydactyly [RCV000309563] Chr4:95155786 [GRCh38]
Chr4:96076937 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.1065T>A (p.Val355=) single nucleotide variant Brachydactyly [RCV000345525]|Brachydactyly type A2 [RCV002057972] Chr4:95131501 [GRCh38]
Chr4:96052652 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*1157A>G single nucleotide variant Brachydactyly [RCV000366628] Chr4:95155830 [GRCh38]
Chr4:96076981 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3277A>T single nucleotide variant Brachydactyly [RCV000367984] Chr4:95157950 [GRCh38]
Chr4:96079101 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.1384-8T>C single nucleotide variant Brachydactyly [RCV000390661]|Brachydactyly type A2 [RCV000873854]|Brachydactyly type A2 [RCV002502353] Chr4:95154540 [GRCh38]
Chr4:96075691 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.*2230G>T single nucleotide variant Brachydactyly [RCV000295141] Chr4:95156903 [GRCh38]
Chr4:96078054 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2350C>T single nucleotide variant Brachydactyly [RCV000346765] Chr4:95157023 [GRCh38]
Chr4:96078174 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*989A>G single nucleotide variant Brachydactyly [RCV000349118] Chr4:95155662 [GRCh38]
Chr4:96076813 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*2221A>G single nucleotide variant Brachydactyly [RCV000330598] Chr4:95156894 [GRCh38]
Chr4:96078045 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*195C>T single nucleotide variant Brachydactyly [RCV000312536]|not provided [RCV001672647] Chr4:95154868 [GRCh38]
Chr4:96076019 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*126G>A single nucleotide variant Brachydactyly [RCV000313256] Chr4:95154799 [GRCh38]
Chr4:96075950 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala) single nucleotide variant BMPR1B-related condition [RCV003920095]|Brachydactyly type A2 [RCV002518966]|not provided [RCV000304200] Chr4:95115727 [GRCh38]
Chr4:96036878 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.*245T>A single nucleotide variant Brachydactyly [RCV000272523] Chr4:95154918 [GRCh38]
Chr4:96076069 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3301C>T single nucleotide variant Brachydactyly [RCV000273390] Chr4:95157974 [GRCh38]
Chr4:96079125 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.247-4A>G single nucleotide variant Brachydactyly type A2 [RCV000951972]|not provided [RCV001668622]|not specified [RCV000363444] Chr4:95115681 [GRCh38]
Chr4:96036832 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.952_957del (p.Glu318_Ile319del) deletion not provided [RCV001269894] Chr4:95131388..95131393 [GRCh38]
Chr4:96052539..96052544 [GRCh37]
Chr4:4q22.3		 likely pathogenic
NM_001203.3(BMPR1B):c.182A>C (p.Asp61Ala) single nucleotide variant not provided [RCV000596072] Chr4:95114758 [GRCh38]
Chr4:96035909 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2572G>T single nucleotide variant Brachydactyly [RCV000361280] Chr4:95157245 [GRCh38]
Chr4:96078396 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*391C>A single nucleotide variant Brachydactyly [RCV000382252] Chr4:95155064 [GRCh38]
Chr4:96076215 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2166C>A single nucleotide variant Brachydactyly [RCV000319980] Chr4:95156839 [GRCh38]
Chr4:96077990 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*833_*834dup duplication Brachydactyly [RCV000406242] Chr4:95155475..95155476 [GRCh38]
Chr4:96076626..96076627 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*825_*834del deletion Brachydactyly [RCV000336173] Chr4:95155476..95155485 [GRCh38]
Chr4:96076627..96076636 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*133C>A single nucleotide variant Brachydactyly [RCV000370812] Chr4:95154806 [GRCh38]
Chr4:96075957 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2229_*2232del deletion Brachydactyly [RCV000389527] Chr4:95156901..95156904 [GRCh38]
Chr4:96078052..96078055 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3719G>C single nucleotide variant Brachydactyly [RCV000390862] Chr4:95158392 [GRCh38]
Chr4:96079543 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*302dup duplication Brachydactyly [RCV000325193]|not provided [RCV001718745] Chr4:95154962..95154963 [GRCh38]
Chr4:96076113..96076114 [GRCh37]
Chr4:4q22.3		 benign|uncertain significance
NM_001203.3(BMPR1B):c.*3699A>G single nucleotide variant Brachydactyly [RCV000340418] Chr4:95158372 [GRCh38]
Chr4:96079523 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*790A>C single nucleotide variant Brachydactyly [RCV000375702] Chr4:95155463 [GRCh38]
Chr4:96076614 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3474A>C single nucleotide variant Brachydactyly [RCV000289172] Chr4:95158147 [GRCh38]
Chr4:96079298 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1576G>A single nucleotide variant Brachydactyly [RCV000358691] Chr4:95156249 [GRCh38]
Chr4:96077400 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*633A>G single nucleotide variant Brachydactyly [RCV000376819] Chr4:95155306 [GRCh38]
Chr4:96076457 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.728G>A (p.Arg243Lys) single nucleotide variant Brachydactyly [RCV000328112] Chr4:95130004 [GRCh38]
Chr4:96051155 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*744C>T single nucleotide variant Brachydactyly [RCV001152207] Chr4:95155417 [GRCh38]
Chr4:96076568 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2228A>G single nucleotide variant Brachydactyly [RCV001152310] Chr4:95156901 [GRCh38]
Chr4:96078052 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.581T>C (p.Leu194Pro) single nucleotide variant Brachydactyly [RCV001152098] Chr4:95125117 [GRCh38]
Chr4:96046268 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.468A>G (p.Arg156=) single nucleotide variant Brachydactyly type A2 [RCV001467970]|not provided [RCV000731080] Chr4:95125004 [GRCh38]
Chr4:96046155 [GRCh37]
Chr4:4q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4q22.3(chr4:95975469-96181052)x4 copy number gain See cases [RCV000449246] Chr4:95975469..96181052 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001203.3(BMPR1B):c.1448C>T (p.Thr483Ile) single nucleotide variant not provided [RCV000444497] Chr4:95154612 [GRCh38]
Chr4:96075763 [GRCh37]
Chr4:4q22.3		 likely pathogenic
NM_001203.3(BMPR1B):c.469C>T (p.Pro157Ser) single nucleotide variant not provided [RCV000424734] Chr4:95125005 [GRCh38]
Chr4:96046156 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24		 pathogenic
NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala) single nucleotide variant Brachydactyly type A2 [RCV003766325]|not provided [RCV000425791] Chr4:95104494 [GRCh38]
Chr4:96025645 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp) single nucleotide variant Brachydactyly type A2 [RCV001865422]|Inborn genetic diseases [RCV002525753]|not provided [RCV000480897] Chr4:95130045 [GRCh38]
Chr4:96051196 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) single nucleotide variant BMPR1B-related condition [RCV003409723]|Brachydactyly type A2 [RCV000509388]|Brachydactyly type A2 [RCV000685866] Chr4:95148783 [GRCh38]
Chr4:96069934 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance|not provided
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 copy number loss See cases [RCV000511194] Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24		 pathogenic
GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1 copy number loss See cases [RCV000510980] Chr4:89891197..98235479 [GRCh37]
Chr4:4q22.1-22.3		 likely pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001203.3(BMPR1B):c.428T>C (p.Ile143Thr) single nucleotide variant Inborn genetic diseases [RCV003295310] Chr4:95123888 [GRCh38]
Chr4:96045039 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.991C>G (p.Arg331Gly) single nucleotide variant Inborn genetic diseases [RCV003269671] Chr4:95131427 [GRCh38]
Chr4:96052578 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.509T>G (p.Ile170Ser) single nucleotide variant Inborn genetic diseases [RCV003274803] Chr4:95125045 [GRCh38]
Chr4:96046196 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.300C>T (p.Asn100=) single nucleotide variant Brachydactyly [RCV001157561]|Brachydactyly type A2 [RCV002060741] Chr4:95115738 [GRCh38]
Chr4:96036889 [GRCh37]
Chr4:4q22.3		 benign|likely benign
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) single nucleotide variant Brachydactyly type A2 [RCV001868161]|Pulmonary hypertension, primary, 3 [RCV000625922] Chr4:95104504 [GRCh38]
Chr4:96025655 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001203.3(BMPR1B):c.291A>G (p.Thr97=) single nucleotide variant Brachydactyly type A2 [RCV003791007] Chr4:95115729 [GRCh38]
Chr4:96036880 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.547T>C (p.Ser183Pro) single nucleotide variant Pulmonary arterial hypertension associated with congenital heart disease [RCV000664165] Chr4:95125083 [GRCh38]
Chr4:96046234 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1 copy number loss not provided [RCV000682434] Chr4:90005204..96971785 [GRCh37]
Chr4:4q22.1-22.3		 pathogenic
Single allele duplication not provided [RCV000677923] Chr4:95492115..96091575 [GRCh37]
Chr4:4q22.3		 likely benign
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q22.3(chr4:95678960-95679852)x1 copy number loss not provided [RCV000743838] Chr4:95678960..95679852 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95678960-95679903)x1 copy number loss not provided [RCV000743839] Chr4:95678960..95679903 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95678960-95682424)x1 copy number loss not provided [RCV000743840] Chr4:95678960..95682424 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95679064-95679852)x1 copy number loss not provided [RCV000743841] Chr4:95679064..95679852 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95679064-95682424)x1 copy number loss not provided [RCV000743842] Chr4:95679064..95682424 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95679208-95682424)x1 copy number loss not provided [RCV000743843] Chr4:95679208..95682424 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001203.3(BMPR1B):c.779-63A>G single nucleotide variant not provided [RCV001666953] Chr4:95131152 [GRCh38]
Chr4:96052303 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q22.3(chr4:95823124-95876177)x1 copy number loss not provided [RCV000762720] Chr4:95823124..95876177 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.-17-53019G>A single nucleotide variant not provided [RCV001576596] Chr4:95051389 [GRCh38]
Chr4:95972540 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.247-336C>A single nucleotide variant not provided [RCV001666929] Chr4:95115349 [GRCh38]
Chr4:96036500 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.144-74AC[14] microsatellite not provided [RCV001547335] Chr4:95114645..95114646 [GRCh38]
Chr4:96035796..96035797 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.246+103A>G single nucleotide variant not provided [RCV001644257] Chr4:95114925 [GRCh38]
Chr4:96036076 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.147A>G (p.Thr49=) single nucleotide variant Brachydactyly type A2 [RCV001462160] Chr4:95114723 [GRCh38]
Chr4:96035874 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.143+9T>C single nucleotide variant not provided [RCV000905476] Chr4:95104576 [GRCh38]
Chr4:96025727 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) single nucleotide variant Brachydactyly type A2 [RCV000792802] Chr4:95125012 [GRCh38]
Chr4:96046163 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) single nucleotide variant Brachydactyly type A2 [RCV000952584] Chr4:95131471 [GRCh38]
Chr4:96052622 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) single nucleotide variant Brachydactyly [RCV001153368]|Brachydactyly type A2 [RCV000873796] Chr4:95154640 [GRCh38]
Chr4:96075791 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.605A>G (p.Lys202Arg) single nucleotide variant Premature ovarian insufficiency [RCV000766164] Chr4:95129881 [GRCh38]
Chr4:96051032 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) single nucleotide variant Brachydactyly type A2 [RCV000791532] Chr4:95129889 [GRCh38]
Chr4:96051040 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
GRCh37/hg19 4q22.3(chr4:96059519-96361153)x3 copy number gain not provided [RCV000848820] Chr4:96059519..96361153 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) single nucleotide variant Brachydactyly type A2 [RCV000821954]|Inborn genetic diseases [RCV002535936] Chr4:95115689 [GRCh38]
Chr4:96036840 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) single nucleotide variant Brachydactyly type A2 [RCV000809345] Chr4:95130002 [GRCh38]
Chr4:96051153 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) single nucleotide variant Acromesomelic dysplasia 3 [RCV000850360] Chr4:95131424 [GRCh38]
Chr4:96052575 [GRCh37]
Chr4:4q22.3		 likely pathogenic
NM_001203.3(BMPR1B):c.72C>G (p.Thr24=) single nucleotide variant Brachydactyly type A2 [RCV001468869] Chr4:95104496 [GRCh38]
Chr4:96025647 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*828T>G single nucleotide variant Brachydactyly [RCV001152208] Chr4:95155501 [GRCh38]
Chr4:96076652 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*834T>A single nucleotide variant Brachydactyly [RCV001152209] Chr4:95155507 [GRCh38]
Chr4:96076658 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.3(chr4:95732136-96494451)x3 copy number gain not provided [RCV000846224] Chr4:95732136..96494451 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*83C>G single nucleotide variant Brachydactyly [RCV001153369] Chr4:95154756 [GRCh38]
Chr4:96075907 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.585+215C>A single nucleotide variant not provided [RCV001641238] Chr4:95125336 [GRCh38]
Chr4:96046487 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*1800G>A single nucleotide variant Brachydactyly [RCV001157785] Chr4:95156473 [GRCh38]
Chr4:96077624 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3677A>G single nucleotide variant Brachydactyly [RCV001157888] Chr4:95158350 [GRCh38]
Chr4:96079501 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-17-52823C>T single nucleotide variant Acromesomelic dysplasia 3 [RCV003232057] Chr4:95051585 [GRCh38]
Chr4:95972736 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1383+241A>G single nucleotide variant not provided [RCV001540517] Chr4:95153014 [GRCh38]
Chr4:96074165 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.447-300C>G single nucleotide variant not provided [RCV001617729] Chr4:95124683 [GRCh38]
Chr4:96045834 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.247-145A>G single nucleotide variant not provided [RCV001550156] Chr4:95115540 [GRCh38]
Chr4:96036691 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1383+32A>T single nucleotide variant not provided [RCV001661005] Chr4:95152805 [GRCh38]
Chr4:96073956 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.778+99G>A single nucleotide variant not provided [RCV001556491] Chr4:95130153 [GRCh38]
Chr4:96051304 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.71C>T (p.Thr24Ile) single nucleotide variant Brachydactyly type A2 [RCV001723525] Chr4:95104495 [GRCh38]
Chr4:96025646 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.183C>T (p.Asp61=) single nucleotide variant not provided [RCV000918368] Chr4:95114759 [GRCh38]
Chr4:96035910 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1434T>A (p.Pro478=) single nucleotide variant Brachydactyly type A2 [RCV003103883] Chr4:95154598 [GRCh38]
Chr4:96075749 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1434T>C (p.Pro478=) single nucleotide variant Brachydactyly type A2 [RCV003768756] Chr4:95154598 [GRCh38]
Chr4:96075749 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.586-9A>T single nucleotide variant Brachydactyly type A2 [RCV003768802] Chr4:95129853 [GRCh38]
Chr4:96051004 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*1203A>G single nucleotide variant Brachydactyly [RCV001153495] Chr4:95155876 [GRCh38]
Chr4:96077027 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.790G>A (p.Ala264Thr) single nucleotide variant Brachydactyly [RCV001152099] Chr4:95131226 [GRCh38]
Chr4:96052377 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2225A>C single nucleotide variant Brachydactyly [RCV001152309] Chr4:95156898 [GRCh38]
Chr4:96078049 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-129A>G single nucleotide variant Brachydactyly [RCV001155857] Chr4:94875884 [GRCh38]
Chr4:95797035 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.395T>G (p.Val132Gly) single nucleotide variant Brachydactyly [RCV001157562] Chr4:95123855 [GRCh38]
Chr4:96045006 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*3489A>G single nucleotide variant Brachydactyly [RCV001157886] Chr4:95158162 [GRCh38]
Chr4:96079313 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.555C>T (p.Ser185=) single nucleotide variant Brachydactyly type A2 [RCV002548264] Chr4:95125091 [GRCh38]
Chr4:96046242 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.779-239C>T single nucleotide variant not provided [RCV001620949] Chr4:95130976 [GRCh38]
Chr4:96052127 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.350-149A>T single nucleotide variant not provided [RCV001644016] Chr4:95123661 [GRCh38]
Chr4:96044812 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.586-236G>A single nucleotide variant not provided [RCV001675076] Chr4:95129626 [GRCh38]
Chr4:96050777 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.247-143A>G single nucleotide variant not provided [RCV001537086] Chr4:95115542 [GRCh38]
Chr4:96036693 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1253-40AAT[6] microsatellite not provided [RCV001638206] Chr4:95152603..95152605 [GRCh38]
Chr4:96073754..96073756 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.-17-52463C>T single nucleotide variant not provided [RCV001591584] Chr4:95051945 [GRCh38]
Chr4:95973096 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.-17-257T>G single nucleotide variant not provided [RCV001654389] Chr4:95104151 [GRCh38]
Chr4:96025302 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.1252+223C>T single nucleotide variant not provided [RCV001676653] Chr4:95149146 [GRCh38]
Chr4:96070297 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.233A>G (p.Asp78Gly) single nucleotide variant Brachydactyly [RCV001157560] Chr4:95114809 [GRCh38]
Chr4:96035960 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*524C>T single nucleotide variant Brachydactyly [RCV001157686] Chr4:95155197 [GRCh38]
Chr4:96076348 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3318A>G single nucleotide variant Brachydactyly [RCV001157885] Chr4:95157991 [GRCh38]
Chr4:96079142 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*3527G>A single nucleotide variant Brachydactyly [RCV001157887] Chr4:95158200 [GRCh38]
Chr4:96079351 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.482T>G (p.Ile161Ser) single nucleotide variant Brachydactyly [RCV001157563] Chr4:95125018 [GRCh38]
Chr4:96046169 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.490G>A (p.Glu164Lys) single nucleotide variant Brachydactyly [RCV001157564] Chr4:95125026 [GRCh38]
Chr4:96046177 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1831A>G single nucleotide variant Brachydactyly [RCV001157786] Chr4:95156504 [GRCh38]
Chr4:96077655 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2156C>T single nucleotide variant Brachydactyly [RCV001157787] Chr4:95156829 [GRCh38]
Chr4:96077980 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.-198G>C single nucleotide variant Brachydactyly [RCV001153262] Chr4:94758053 [GRCh38]
Chr4:95679204 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-167A>G single nucleotide variant Brachydactyly [RCV001153264] Chr4:94875846 [GRCh38]
Chr4:95796997 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*2411T>A single nucleotide variant Brachydactyly [RCV001153595] Chr4:95157084 [GRCh38]
Chr4:96078235 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) single nucleotide variant Brachydactyly type A2 [RCV002001593] Chr4:95131337 [GRCh38]
Chr4:96052488 [GRCh37]
Chr4:4q22.3		 benign|uncertain significance
NM_001203.3(BMPR1B):c.-117T>C single nucleotide variant BMPR1B-related condition [RCV003918745]|Brachydactyly [RCV001155858] Chr4:94875896 [GRCh38]
Chr4:95797047 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*139C>T single nucleotide variant Brachydactyly [RCV001155974] Chr4:95154812 [GRCh38]
Chr4:96075963 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.3(chr4:95721612-96052860)x1 copy number loss not provided [RCV001005577] Chr4:95721612..96052860 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-17-137A>G single nucleotide variant not provided [RCV001567860] Chr4:95104271 [GRCh38]
Chr4:96025422 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.779-180T>C single nucleotide variant not provided [RCV001685025] Chr4:95131035 [GRCh38]
Chr4:96052186 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.144-74AC[9] microsatellite not provided [RCV001680882] Chr4:95114646..95114651 [GRCh38]
Chr4:96035797..96035802 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.585+271A>G single nucleotide variant not provided [RCV001534102] Chr4:95125392 [GRCh38]
Chr4:96046543 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*1637T>A single nucleotide variant Brachydactyly [RCV001156095] Chr4:95156310 [GRCh38]
Chr4:96077461 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*283G>A single nucleotide variant Brachydactyly [RCV001157685] Chr4:95154956 [GRCh38]
Chr4:96076107 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) single nucleotide variant Brachydactyly type A2 [RCV001054942] Chr4:95130000 [GRCh38]
Chr4:96051151 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-182G>A single nucleotide variant Brachydactyly [RCV001153263] Chr4:94875831 [GRCh38]
Chr4:95796982 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1371A>G single nucleotide variant Brachydactyly [RCV001153496] Chr4:95156044 [GRCh38]
Chr4:96077195 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*2307C>T single nucleotide variant Brachydactyly [RCV001153594] Chr4:95156980 [GRCh38]
Chr4:96078131 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-88C>G single nucleotide variant Brachydactyly [RCV001155859] Chr4:94996064 [GRCh38]
Chr4:95917215 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.-18+1G>T single nucleotide variant Brachydactyly [RCV001155860] Chr4:94996135 [GRCh38]
Chr4:95917286 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.*1661A>G single nucleotide variant Brachydactyly [RCV001156097] Chr4:95156334 [GRCh38]
Chr4:96077485 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1792C>T single nucleotide variant Brachydactyly [RCV001156098] Chr4:95156465 [GRCh38]
Chr4:96077616 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) single nucleotide variant Acromesomelic dysplasia 3 [RCV001334871]|Brachydactyly [RCV001155861]|Brachydactyly type A2 [RCV001220771]|Idiopathic pulmonary arterial hypertension [RCV001683739]|not provided [RCV001776122] Chr4:95104435 [GRCh38]
Chr4:96025586 [GRCh37]
Chr4:4q22.3		 benign|likely benign|uncertain significance
NM_001203.3(BMPR1B):c.36C>T (p.Gly12=) single nucleotide variant Brachydactyly [RCV001155862] Chr4:95104460 [GRCh38]
Chr4:96025611 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1375A>T single nucleotide variant Brachydactyly [RCV001156094] Chr4:95156048 [GRCh38]
Chr4:96077199 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1660T>A single nucleotide variant Brachydactyly [RCV001156096] Chr4:95156333 [GRCh38]
Chr4:96077484 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.*2962T>G single nucleotide variant Brachydactyly [RCV001156209] Chr4:95157635 [GRCh38]
Chr4:96078786 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.-287C>G single nucleotide variant Brachydactyly [RCV001153261] Chr4:94757964 [GRCh38]
Chr4:95679115 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) single nucleotide variant Brachydactyly [RCV001153367]|Brachydactyly type A2 [RCV002032413] Chr4:95148905 [GRCh38]
Chr4:96070056 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*1065T>A single nucleotide variant Brachydactyly [RCV001153494] Chr4:95155738 [GRCh38]
Chr4:96076889 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*221C>T single nucleotide variant Brachydactyly [RCV001157684] Chr4:95154894 [GRCh38]
Chr4:96076045 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 copy number loss not provided [RCV001259285] Chr4:94692345..101308220 [GRCh37]
Chr4:4q22.2-24		 likely pathogenic
NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg) single nucleotide variant Acromesomelic dysplasia 2C, Hunter-Thompson type [RCV001291418] Chr4:95148861 [GRCh38]
Chr4:96070012 [GRCh37]
Chr4:4q22.3		 likely pathogenic
NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) single nucleotide variant Brachydactyly type A2 [RCV001350752] Chr4:95152756 [GRCh38]
Chr4:96073907 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) single nucleotide variant Brachydactyly type A2 [RCV001305896] Chr4:95104498 [GRCh38]
Chr4:96025649 [GRCh37]
Chr4:4q22.3		 benign|uncertain significance
NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) single nucleotide variant Brachydactyly type A2 [RCV001297943] Chr4:95125044 [GRCh38]
Chr4:96046195 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1443G>A (p.Arg481=) single nucleotide variant Brachydactyly type A2 [RCV001434048] Chr4:95154607 [GRCh38]
Chr4:96075758 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) single nucleotide variant Brachydactyly type A2 [RCV001309839]|Inborn genetic diseases [RCV002543530] Chr4:95123851 [GRCh38]
Chr4:96045002 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn) single nucleotide variant Brachydactyly type A2 [RCV001302000] Chr4:95123818 [GRCh38]
Chr4:96044969 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) single nucleotide variant Brachydactyly type A2 [RCV001374173] Chr4:95130021 [GRCh38]
Chr4:96051172 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) single nucleotide variant Brachydactyly type A2 [RCV001345229] Chr4:95131511 [GRCh38]
Chr4:96052662 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) single nucleotide variant Brachydactyly type A2 [RCV001347682]|Inborn genetic diseases [RCV002547462] Chr4:95104440 [GRCh38]
Chr4:96025591 [GRCh37]
Chr4:4q22.3		 benign|uncertain significance
NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser) single nucleotide variant Brachydactyly type A2 [RCV001308083] Chr4:95115772 [GRCh38]
Chr4:96036923 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) single nucleotide variant Brachydactyly type A2 [RCV001304761] Chr4:95131265 [GRCh38]
Chr4:96052416 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) single nucleotide variant Brachydactyly type A2 [RCV001369908] Chr4:95148845 [GRCh38]
Chr4:96069996 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.18A>G (p.Ala6=) single nucleotide variant Brachydactyly type A2 [RCV001458642] Chr4:95104442 [GRCh38]
Chr4:96025593 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.-17-52353A>T single nucleotide variant not provided [RCV001530693] Chr4:95052055 [GRCh38]
Chr4:95973206 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.214C>T (p.Leu72=) single nucleotide variant Brachydactyly type A2 [RCV001437478] Chr4:95114790 [GRCh38]
Chr4:96035941 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.831A>G (p.Leu277=) single nucleotide variant Brachydactyly type A2 [RCV001405576] Chr4:95131267 [GRCh38]
Chr4:96052418 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1252+225A>C single nucleotide variant not provided [RCV001653409] Chr4:95149148 [GRCh38]
Chr4:96070299 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.1383+281C>T single nucleotide variant not provided [RCV001707462] Chr4:95153054 [GRCh38]
Chr4:96074205 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.144-74AC[13] microsatellite not provided [RCV001715422] Chr4:95114645..95114646 [GRCh38]
Chr4:96035796..96035797 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.1384-341T>G single nucleotide variant not provided [RCV001587680] Chr4:95154207 [GRCh38]
Chr4:96075358 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.771C>T (p.Asn257=) single nucleotide variant Brachydactyly type A2 [RCV001423522] Chr4:95130047 [GRCh38]
Chr4:96051198 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala) single nucleotide variant Brachydactyly type A2 [RCV001467957] Chr4:95114805 [GRCh38]
Chr4:96035956 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.762G>C (p.Arg254Ser) single nucleotide variant not provided [RCV001755293] Chr4:95130038 [GRCh38]
Chr4:96051189 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.77G>C (p.Arg26Pro) single nucleotide variant not provided [RCV001727293] Chr4:95104501 [GRCh38]
Chr4:96025652 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) single nucleotide variant Brachydactyly [RCV001825035]|Brachydactyly type A2 [RCV001868676]|not provided [RCV001757508] Chr4:95125033 [GRCh38]
Chr4:96046184 [GRCh37]
Chr4:4q22.3		 uncertain significance|not provided
NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp) single nucleotide variant Acromesomelic dysplasia 3 [RCV002240146] Chr4:95148789 [GRCh38]
Chr4:96069940 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.*302del deletion not provided [RCV001757803] Chr4:95154963 [GRCh38]
Chr4:96076114 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.-17-52461_-17-52458del deletion not provided [RCV001762893] Chr4:95051945..95051948 [GRCh38]
Chr4:95973096..95973099 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu) single nucleotide variant Brachydactyly type A2 [RCV001885135]|not provided [RCV001776777] Chr4:95131331 [GRCh38]
Chr4:96052482 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.838G>A (p.Asp280Asn) single nucleotide variant Brachydactyly type A2 [RCV003772121]|not provided [RCV001776880] Chr4:95131274 [GRCh38]
Chr4:96052425 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg) single nucleotide variant Brachydactyly type A2 [RCV001915333] Chr4:95125006 [GRCh38]
Chr4:96046157 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val) single nucleotide variant Brachydactyly type A2 [RCV001911467] Chr4:95125116 [GRCh38]
Chr4:96046267 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu) single nucleotide variant Brachydactyly type A2 [RCV002043137]|Inborn genetic diseases [RCV002548744] Chr4:95130022 [GRCh38]
Chr4:96051173 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.3(chr4:95975469-96181052) copy number gain not specified [RCV002053443] Chr4:95975469..96181052 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu) single nucleotide variant Brachydactyly type A2 [RCV002020704]|Inborn genetic diseases [RCV002548202] Chr4:95104467 [GRCh38]
Chr4:96025618 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001203.3(BMPR1B):c.1367G>A (p.Arg456Gln) single nucleotide variant Brachydactyly type A2 [RCV001892695] Chr4:95152757 [GRCh38]
Chr4:96073908 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.1411A>G (p.Thr471Ala) single nucleotide variant Brachydactyly type A2 [RCV002041202] Chr4:95154575 [GRCh38]
Chr4:96075726 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr) single nucleotide variant Brachydactyly type A2 [RCV002028125] Chr4:95123830 [GRCh38]
Chr4:96044981 [GRCh37]
Chr4:4q22.3		 uncertain significance
NC_000004.11:g.(?_96069879)_(96075824_?)dup duplication Brachydactyly type A2 [RCV001877489] Chr4:96069879..96075824 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu) single nucleotide variant Brachydactyly type A2 [RCV001952227] Chr4:95130000 [GRCh38]
Chr4:96051151 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala) single nucleotide variant Brachydactyly type A2 [RCV001955263] Chr4:95148752 [GRCh38]
Chr4:96069903 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys) single nucleotide variant Brachydactyly type A2 [RCV001937438] Chr4:95130010 [GRCh38]
Chr4:96051161 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) single nucleotide variant Brachydactyly type A2 [RCV002029412] Chr4:95129946 [GRCh38]
Chr4:96051097 [GRCh37]
Chr4:4q22.3		 benign|uncertain significance
NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile) single nucleotide variant Brachydactyly type A2 [RCV002017410] Chr4:95125023 [GRCh38]
Chr4:96046174 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val) single nucleotide variant Brachydactyly type A2 [RCV002026326] Chr4:95130013 [GRCh38]
Chr4:96051164 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln) single nucleotide variant Brachydactyly type A2 [RCV001996181] Chr4:95131343 [GRCh38]
Chr4:96052494 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.470C>T (p.Pro157Leu) single nucleotide variant Brachydactyly type A2 [RCV002050264] Chr4:95125006 [GRCh38]
Chr4:96046157 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg) single nucleotide variant Brachydactyly type A2 [RCV001906652] Chr4:95104439 [GRCh38]
Chr4:96025590 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) single nucleotide variant Brachydactyly type A2 [RCV001878395]|Inborn genetic diseases [RCV002548690] Chr4:95131328 [GRCh38]
Chr4:96052479 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.586-18T>G single nucleotide variant Brachydactyly type A2 [RCV002071679] Chr4:95129844 [GRCh38]
Chr4:96050995 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.21A>G (p.Gly7=) single nucleotide variant Brachydactyly type A2 [RCV002125505] Chr4:95104445 [GRCh38]
Chr4:96025596 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1082C>A (p.Thr361Lys) single nucleotide variant Brachydactyly type A2 [RCV002205889] Chr4:95148753 [GRCh38]
Chr4:96069904 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1035T>A (p.Thr345=) single nucleotide variant Brachydactyly type A2 [RCV002129511] Chr4:95131471 [GRCh38]
Chr4:96052622 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.705C>G (p.Thr235=) single nucleotide variant Brachydactyly type A2 [RCV002073856] Chr4:95129981 [GRCh38]
Chr4:96051132 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.103C>T (p.His35Tyr) single nucleotide variant not provided [RCV002223680] Chr4:95104527 [GRCh38]
Chr4:96025678 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg) single nucleotide variant Brachydactyly type A2 [RCV002192143]|Inborn genetic diseases [RCV003161379] Chr4:95131332 [GRCh38]
Chr4:96052483 [GRCh37]
Chr4:4q22.3		 likely benign|uncertain significance
NM_001203.3(BMPR1B):c.804G>A (p.Gly268=) single nucleotide variant Brachydactyly type A2 [RCV002076775] Chr4:95131240 [GRCh38]
Chr4:96052391 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1076+20A>G single nucleotide variant Brachydactyly type A2 [RCV002171465] Chr4:95131532 [GRCh38]
Chr4:96052683 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.779-15C>G single nucleotide variant Brachydactyly type A2 [RCV002216095] Chr4:95131200 [GRCh38]
Chr4:96052351 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.523T>C (p.Ser175Pro) single nucleotide variant BMPR1B-related condition [RCV003971008]|Brachydactyly type A2 [RCV002094459] Chr4:95125059 [GRCh38]
Chr4:96046210 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.778+17A>G single nucleotide variant Brachydactyly type A2 [RCV002076393] Chr4:95130071 [GRCh38]
Chr4:96051222 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.144-17G>A single nucleotide variant Brachydactyly type A2 [RCV002123837] Chr4:95114703 [GRCh38]
Chr4:96035854 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.897A>G (p.Lys299=) single nucleotide variant Brachydactyly type A2 [RCV002154633] Chr4:95131333 [GRCh38]
Chr4:96052484 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1076+18C>T single nucleotide variant Brachydactyly type A2 [RCV002162620] Chr4:95131530 [GRCh38]
Chr4:96052681 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1353C>A (p.Pro451=) single nucleotide variant Brachydactyly type A2 [RCV002101224] Chr4:95152743 [GRCh38]
Chr4:96073894 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1323G>A (p.Arg441=) single nucleotide variant Brachydactyly type A2 [RCV002177036] Chr4:95152713 [GRCh38]
Chr4:96073864 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1152C>T (p.Asp384=) single nucleotide variant Brachydactyly type A2 [RCV002157876] Chr4:95148823 [GRCh38]
Chr4:96069974 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.779-6T>C single nucleotide variant Brachydactyly type A2 [RCV002221001] Chr4:95131209 [GRCh38]
Chr4:96052360 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.349+18C>G single nucleotide variant Brachydactyly type A2 [RCV002202203] Chr4:95115805 [GRCh38]
Chr4:96036956 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.909G>A (p.Lys303=) single nucleotide variant Brachydactyly type A2 [RCV002082479] Chr4:95131345 [GRCh38]
Chr4:96052496 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp) single nucleotide variant Acromesomelic dysplasia 3 [RCV002226986] Chr4:95114820 [GRCh38]
Chr4:96035971 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1252+410A>G single nucleotide variant Acromesomelic dysplasia 3 [RCV003232056] Chr4:95149333 [GRCh38]
Chr4:96070484 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr) single nucleotide variant Brachydactyly type A2 [RCV002618659] Chr4:95131415 [GRCh38]
Chr4:96052566 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.440A>G (p.Tyr147Cys) single nucleotide variant Brachydactyly type A2 [RCV002861421] Chr4:95123900 [GRCh38]
Chr4:96045051 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.280G>A (p.Glu94Lys) single nucleotide variant Brachydactyly type A2 [RCV002754996] Chr4:95115718 [GRCh38]
Chr4:96036869 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.875A>G (p.Lys292Arg) single nucleotide variant Brachydactyly type A2 [RCV002995053] Chr4:95131311 [GRCh38]
Chr4:96052462 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.464C>A (p.Thr155Asn) single nucleotide variant Brachydactyly type A2 [RCV002904163] Chr4:95125000 [GRCh38]
Chr4:96046151 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr) single nucleotide variant Brachydactyly type A2 [RCV002913762] Chr4:95148861 [GRCh38]
Chr4:96070012 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.77G>A (p.Arg26His) single nucleotide variant Brachydactyly type A2 [RCV002953778] Chr4:95104501 [GRCh38]
Chr4:96025652 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.790G>T (p.Ala264Ser) single nucleotide variant Brachydactyly type A2 [RCV002622742] Chr4:95131226 [GRCh38]
Chr4:96052377 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.736G>A (p.Glu246Lys) single nucleotide variant Inborn genetic diseases [RCV002758160] Chr4:95130012 [GRCh38]
Chr4:96051163 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala) single nucleotide variant Brachydactyly type A2 [RCV002569910]|Inborn genetic diseases [RCV002573708] Chr4:95154564 [GRCh38]
Chr4:96075715 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.247G>A (p.Asp83Asn) single nucleotide variant Brachydactyly type A2 [RCV002952824] Chr4:95115685 [GRCh38]
Chr4:96036836 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.928A>G (p.Ser310Gly) single nucleotide variant Brachydactyly type A2 [RCV002886109] Chr4:95131364 [GRCh38]
Chr4:96052515 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1501A>G (p.Lys501Glu) single nucleotide variant Inborn genetic diseases [RCV002844417] Chr4:95154665 [GRCh38]
Chr4:96075816 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1077-6C>G single nucleotide variant Brachydactyly type A2 [RCV002876241] Chr4:95148742 [GRCh38]
Chr4:96069893 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe) single nucleotide variant Brachydactyly type A2 [RCV002933289] Chr4:95104509 [GRCh38]
Chr4:96025660 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1238G>C (p.Arg413Thr) single nucleotide variant Brachydactyly type A2 [RCV002643923] Chr4:95148909 [GRCh38]
Chr4:96070060 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg) single nucleotide variant Brachydactyly type A2 [RCV002932047] Chr4:95154558 [GRCh38]
Chr4:96075709 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.573C>A (p.Gly191=) single nucleotide variant Brachydactyly type A2 [RCV002982848] Chr4:95125109 [GRCh38]
Chr4:96046260 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.786T>A (p.Ile262=) single nucleotide variant Brachydactyly type A2 [RCV003058939] Chr4:95131222 [GRCh38]
Chr4:96052373 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.616A>G (p.Met206Val) single nucleotide variant Brachydactyly type A2 [RCV003058941]|Inborn genetic diseases [RCV003358070] Chr4:95129892 [GRCh38]
Chr4:96051043 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala) single nucleotide variant Brachydactyly type A2 [RCV002745989] Chr4:95130013 [GRCh38]
Chr4:96051164 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1171C>T (p.His391Tyr) single nucleotide variant Brachydactyly type A2 [RCV002671446] Chr4:95148842 [GRCh38]
Chr4:96069993 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.419T>G (p.Val140Gly) single nucleotide variant Brachydactyly type A2 [RCV003044996] Chr4:95123879 [GRCh38]
Chr4:96045030 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.474A>G (p.Arg158=) single nucleotide variant Brachydactyly type A2 [RCV002898680] Chr4:95125010 [GRCh38]
Chr4:96046161 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu) single nucleotide variant Brachydactyly type A2 [RCV003111663]|Inborn genetic diseases [RCV002703089] Chr4:95154560 [GRCh38]
Chr4:96075711 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1096A>T (p.Ile366Leu) single nucleotide variant Inborn genetic diseases [RCV002835732] Chr4:95148767 [GRCh38]
Chr4:96069918 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln) single nucleotide variant Brachydactyly type A2 [RCV003777582]|Inborn genetic diseases [RCV002648441] Chr4:95125117 [GRCh38]
Chr4:96046268 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.247-3T>C single nucleotide variant Brachydactyly type A2 [RCV003087027] Chr4:95115682 [GRCh38]
Chr4:96036833 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.62C>T (p.Thr21Ile) single nucleotide variant Brachydactyly type A2 [RCV003063260] Chr4:95104486 [GRCh38]
Chr4:96025637 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.585+18C>A single nucleotide variant Brachydactyly type A2 [RCV002943650] Chr4:95125139 [GRCh38]
Chr4:96046290 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.38C>T (p.Thr13Ile) single nucleotide variant Inborn genetic diseases [RCV002944638] Chr4:95104462 [GRCh38]
Chr4:96025613 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.411G>A (p.Leu137=) single nucleotide variant Brachydactyly type A2 [RCV002654795] Chr4:95123871 [GRCh38]
Chr4:96045022 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1228G>T (p.Val410Phe) single nucleotide variant Brachydactyly type A2 [RCV003072964] Chr4:95148899 [GRCh38]
Chr4:96070050 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser) single nucleotide variant Brachydactyly type A2 [RCV002590288] Chr4:95148910 [GRCh38]
Chr4:96070061 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn) single nucleotide variant Brachydactyly type A2 [RCV002608977]|not provided [RCV003225239] Chr4:95148764 [GRCh38]
Chr4:96069915 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1023G>C (p.Lys341Asn) single nucleotide variant Brachydactyly type A2 [RCV002603867] Chr4:95131459 [GRCh38]
Chr4:96052610 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1385G>T (p.Cys462Phe) single nucleotide variant Brachydactyly type A2 [RCV002586291] Chr4:95154549 [GRCh38]
Chr4:96075700 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val) single nucleotide variant Brachydactyly type A2 [RCV002725971] Chr4:95131433 [GRCh38]
Chr4:96052584 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.746A>G (p.Gln249Arg) single nucleotide variant not provided [RCV003141659] Chr4:95130022 [GRCh38]
Chr4:96051173 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.88T>G (p.Leu30Val) single nucleotide variant Inborn genetic diseases [RCV003220305] Chr4:95104512 [GRCh38]
Chr4:96025663 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1090G>A (p.Val364Ile) single nucleotide variant Inborn genetic diseases [RCV003203293] Chr4:95148761 [GRCh38]
Chr4:96069912 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23		 pathogenic
NM_001203.3(BMPR1B):c.1471C>T (p.Leu491Phe) single nucleotide variant Inborn genetic diseases [RCV003370292] Chr4:95154635 [GRCh38]
Chr4:96075786 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.360T>G (p.Asp120Glu) single nucleotide variant Inborn genetic diseases [RCV003374662] Chr4:95123820 [GRCh38]
Chr4:96044971 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.3(chr4:96076813-97410812)x1 copy number loss not provided [RCV003485428] Chr4:96076813..97410812 [GRCh37]
Chr4:4q22.3		 uncertain significance
GRCh37/hg19 4q22.3(chr4:95975469-96181200)x3 copy number gain not provided [RCV003484194] Chr4:95975469..96181200 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile) single nucleotide variant BMPR1B-related condition [RCV003408785]|Brachydactyly type A2 [RCV003778297] Chr4:95115710 [GRCh38]
Chr4:96036861 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.246+10A>T single nucleotide variant Brachydactyly type A2 [RCV003807274] Chr4:95114832 [GRCh38]
Chr4:96035983 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.851A>C (p.Asn284Thr) single nucleotide variant Brachydactyly type A2 [RCV003804070] Chr4:95131287 [GRCh38]
Chr4:96052438 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.464C>G (p.Thr155Ser) single nucleotide variant Brachydactyly type A2 [RCV003786053] Chr4:95125000 [GRCh38]
Chr4:96046151 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.527T>C (p.Leu176Pro) single nucleotide variant Brachydactyly type A2 [RCV003796609] Chr4:95125063 [GRCh38]
Chr4:96046214 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.585+10_585+12del microsatellite Brachydactyly type A2 [RCV003794047] Chr4:95125127..95125129 [GRCh38]
Chr4:96046278..96046280 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.247G>C (p.Asp83His) single nucleotide variant Brachydactyly type A2 [RCV003796784] Chr4:95115685 [GRCh38]
Chr4:96036836 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.725T>G (p.Phe242Cys) single nucleotide variant Brachydactyly type A2 [RCV003807475] Chr4:95130001 [GRCh38]
Chr4:96051152 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.585+1G>C single nucleotide variant Brachydactyly type A2 [RCV003782784] Chr4:95125122 [GRCh38]
Chr4:96046273 [GRCh37]
Chr4:4q22.3		 likely pathogenic
NM_001203.3(BMPR1B):c.289A>T (p.Thr97Ser) single nucleotide variant Brachydactyly type A2 [RCV003806675] Chr4:95115727 [GRCh38]
Chr4:96036878 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1101A>T (p.Pro367=) single nucleotide variant Brachydactyly type A2 [RCV003782099] Chr4:95148772 [GRCh38]
Chr4:96069923 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1367G>T (p.Arg456Leu) single nucleotide variant Brachydactyly type A2 [RCV003781165] Chr4:95152757 [GRCh38]
Chr4:96073908 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser) single nucleotide variant Brachydactyly type A2 [RCV003788604] Chr4:95125039 [GRCh38]
Chr4:96046190 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.67C>G (p.Pro23Ala) single nucleotide variant Brachydactyly type A2 [RCV003805653] Chr4:95104491 [GRCh38]
Chr4:96025642 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.725T>A (p.Phe242Tyr) single nucleotide variant Brachydactyly type A2 [RCV003794829] Chr4:95130001 [GRCh38]
Chr4:96051152 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.543G>A (p.Glu181=) single nucleotide variant Brachydactyly type A2 [RCV003795505] Chr4:95125079 [GRCh38]
Chr4:96046230 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val) single nucleotide variant BMPR1B-related condition [RCV003893395]|Brachydactyly type A2 [RCV003781389] Chr4:95131448 [GRCh38]
Chr4:96052599 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1365C>T (p.Asn455=) single nucleotide variant Brachydactyly type A2 [RCV003807206] Chr4:95152755 [GRCh38]
Chr4:96073906 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.886C>T (p.Leu296=) single nucleotide variant Brachydactyly type A2 [RCV003807042] Chr4:95131322 [GRCh38]
Chr4:96052473 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.534C>T (p.Asp178=) single nucleotide variant Brachydactyly type A2 [RCV003793075] Chr4:95125070 [GRCh38]
Chr4:96046221 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.74C>A (p.Pro25His) single nucleotide variant Brachydactyly type A2 [RCV003787231] Chr4:95104498 [GRCh38]
Chr4:96025649 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.556T>A (p.Ser186Thr) single nucleotide variant Brachydactyly type A2 [RCV003780291] Chr4:95125092 [GRCh38]
Chr4:96046243 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.402_405del (p.Cys135fs) microsatellite Brachydactyly type A2 [RCV003789107] Chr4:95123858..95123861 [GRCh38]
Chr4:96045009..96045012 [GRCh37]
Chr4:4q22.3		 pathogenic
NM_001203.3(BMPR1B):c.1498A>G (p.Ile500Val) single nucleotide variant Brachydactyly type A2 [RCV003796645] Chr4:95154662 [GRCh38]
Chr4:96075813 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.321C>T (p.His107=) single nucleotide variant Brachydactyly type A2 [RCV003789165] Chr4:95115759 [GRCh38]
Chr4:96036910 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu) single nucleotide variant Brachydactyly type A2 [RCV003781186] Chr4:95131335 [GRCh38]
Chr4:96052486 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.507C>T (p.Tyr169=) single nucleotide variant Brachydactyly type A2 [RCV003781436] Chr4:95125043 [GRCh38]
Chr4:96046194 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.1347A>G (p.Leu449=) single nucleotide variant Brachydactyly type A2 [RCV003804143] Chr4:95152737 [GRCh38]
Chr4:96073888 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.778+17A>C single nucleotide variant Brachydactyly type A2 [RCV003780206] Chr4:95130071 [GRCh38]
Chr4:96051222 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.524C>T (p.Ser175Phe) single nucleotide variant Brachydactyly type A2 [RCV003788313] Chr4:95125060 [GRCh38]
Chr4:96046211 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1097T>C (p.Ile366Thr) single nucleotide variant Brachydactyly type A2 [RCV003786969] Chr4:95148768 [GRCh38]
Chr4:96069919 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.842A>G (p.Tyr281Cys) single nucleotide variant Brachydactyly type A2 [RCV003786908] Chr4:95131278 [GRCh38]
Chr4:96052429 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1094A>G (p.Asp365Gly) single nucleotide variant Brachydactyly type A2 [RCV003808121] Chr4:95148765 [GRCh38]
Chr4:96069916 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1384-6C>T single nucleotide variant Brachydactyly type A2 [RCV003799090] Chr4:95154542 [GRCh38]
Chr4:96075693 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.622A>G (p.Lys208Glu) single nucleotide variant Brachydactyly type A2 [RCV003799127] Chr4:95129898 [GRCh38]
Chr4:96051049 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.247G>T (p.Asp83Tyr) single nucleotide variant Brachydactyly type A2 [RCV003809479] Chr4:95115685 [GRCh38]
Chr4:96036836 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.496G>A (p.Asp166Asn) single nucleotide variant Brachydactyly type A2 [RCV003798187] Chr4:95125032 [GRCh38]
Chr4:96046183 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile) single nucleotide variant Brachydactyly type A2 [RCV003812905] Chr4:95131272 [GRCh38]
Chr4:96052423 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr) single nucleotide variant Brachydactyly type A2 [RCV003799230] Chr4:95123885 [GRCh38]
Chr4:96045036 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.524C>G (p.Ser175Cys) single nucleotide variant Brachydactyly type A2 [RCV003812405] Chr4:95125060 [GRCh38]
Chr4:96046211 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.47A>G (p.Glu16Gly) single nucleotide variant Brachydactyly type A2 [RCV003799556] Chr4:95104471 [GRCh38]
Chr4:96025622 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter) single nucleotide variant Brachydactyly type A2 [RCV003813530] Chr4:95154557 [GRCh38]
Chr4:96075708 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln) indel Brachydactyly type A2 [RCV003803298] Chr4:95129897..95129898 [GRCh38]
Chr4:96051048..96051049 [GRCh37]
Chr4:4q22.3		 uncertain significance
NM_001203.3(BMPR1B):c.906G>C (p.Leu302=) single nucleotide variant Brachydactyly type A2 [RCV003803707] Chr4:95131342 [GRCh38]
Chr4:96052493 [GRCh37]
Chr4:4q22.3		 benign
GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3 copy number gain not specified [RCV003986489] Chr4:85139670..96295033 [GRCh37]
Chr4:4q21.23-22.3		 likely pathogenic
GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1 copy number loss not specified [RCV003986493] Chr4:81558759..95965995 [GRCh37]
Chr4:4q21.21-22.3		 pathogenic
NM_001203.3(BMPR1B):c.586-19G>A single nucleotide variant Brachydactyly type A2 [RCV003803869] Chr4:95129843 [GRCh38]
Chr4:96050994 [GRCh37]
Chr4:4q22.3		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001203.3(BMPR1B):c.-17-52679G>A single nucleotide variant BMPR1B-related condition [RCV003954952] Chr4:95051729 [GRCh38]
Chr4:95972880 [GRCh37]
Chr4:4q22.3		 likely benign
NM_001203.3(BMPR1B):c.-17-52674A>G single nucleotide variant BMPR1B-related condition [RCV003912226] Chr4:95051734 [GRCh38]
Chr4:95972885 [GRCh37]
Chr4:4q22.3		 benign
NM_001203.3(BMPR1B):c.-17-52640A>G single nucleotide variant BMPR1B-related condition [RCV003954418] Chr4:95051768 [GRCh38]
Chr4:95972919 [GRCh37]
Chr4:4q22.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19738052
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19738052

Predicted Target Of
Summary Value
Count of predictions:2322
Count of miRNA genes:908
Interacting mature miRNAs:1087
Transcripts:ENST00000264568, ENST00000394931, ENST00000440890, ENST00000502683, ENST00000506363, ENST00000509540, ENST00000512312, ENST00000515059
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.

Markers in Region
D4S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,790,176 - 95,790,376UniSTSGRCh37
Celera493,087,212 - 93,087,404UniSTS
HuRef491,527,274 - 91,527,472UniSTS
Marshfield Genetic Map4100.75RGD
D4S2380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,883,156 - 95,883,362UniSTSGRCh37
Build 36496,102,179 - 96,102,385RGDNCBI36
Celera493,179,863 - 93,180,069RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,619,898 - 91,620,107UniSTS
Marshfield Genetic Map4100.75UniSTS
Marshfield Genetic Map4100.75RGD
Whitehead-YAC Contig Map4 UniSTS
SHGC-67739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37496,079,452 - 96,079,590UniSTSGRCh37
Build 36496,298,475 - 96,298,613RGDNCBI36
Celera493,376,108 - 93,376,246RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,816,137 - 91,816,275UniSTS
GeneMap99-GB4 RH Map4478.83UniSTS
NCBI RH Map41092.2UniSTS
SHGC-78087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37496,029,976 - 96,030,299UniSTSGRCh37
Build 36496,248,999 - 96,249,322RGDNCBI36
Celera493,326,626 - 93,326,949RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,766,639 - 91,766,962UniSTS
TNG Radiation Hybrid Map458185.0UniSTS
SHGC-79355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,779,646 - 95,779,927UniSTSGRCh37
Build 36495,998,669 - 95,998,950RGDNCBI36
Celera493,076,683 - 93,076,964RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,516,837 - 91,517,118UniSTS
TNG Radiation Hybrid Map458280.0UniSTS
RH123060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,976,530 - 95,976,806UniSTSGRCh37
Build 36496,195,553 - 96,195,829RGDNCBI36
Celera493,273,220 - 93,273,496RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,713,239 - 91,713,515UniSTS
TNG Radiation Hybrid Map458219.0UniSTS
G62599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,724,503 - 95,724,799UniSTSGRCh37
Build 36495,943,526 - 95,943,822RGDNCBI36
Celera493,021,546 - 93,021,842RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,461,694 - 91,461,990UniSTS
TNG Radiation Hybrid Map458451.0UniSTS
SHGC-9264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,946,257 - 95,946,366UniSTSGRCh37
Build 36496,165,280 - 96,165,389RGDNCBI36
Celera493,242,958 - 93,243,067RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,682,983 - 91,683,092UniSTS
TNG Radiation Hybrid Map458259.0UniSTS
SHGC-51110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37496,078,064 - 96,078,273UniSTSGRCh37
Build 36496,297,087 - 96,297,296RGDNCBI36
Celera493,374,720 - 93,374,929RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,814,749 - 91,814,958UniSTS
TNG Radiation Hybrid Map458129.0UniSTS
D4S1045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,732,496 - 95,732,652UniSTSGRCh37
Build 36495,951,519 - 95,951,675RGDNCBI36
Celera493,029,540 - 93,029,696RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,469,688 - 91,469,844UniSTS
TNG Radiation Hybrid Map458419.0UniSTS
Stanford-G3 RH Map45340.0UniSTS
G41993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37496,046,989 - 96,047,162UniSTSGRCh37
Build 36496,266,012 - 96,266,185RGDNCBI36
Celera493,343,642 - 93,343,815RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,783,659 - 91,783,832UniSTS
TNG Radiation Hybrid Map458163.0UniSTS
SHGC4-1504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,965,661 - 95,965,837UniSTSGRCh37
Build 36496,184,684 - 96,184,860RGDNCBI36
Celera493,262,364 - 93,262,540RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,702,400 - 91,702,576UniSTS
TNG Radiation Hybrid Map458237.0UniSTS
SHGC-51118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,721,498 - 95,721,708UniSTSGRCh37
Build 36495,940,521 - 95,940,731RGDNCBI36
Celera493,018,544 - 93,018,754RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,458,692 - 91,458,902UniSTS
TNG Radiation Hybrid Map458422.0UniSTS
SHGC-59827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37496,010,363 - 96,010,512UniSTSGRCh37
Build 36496,229,386 - 96,229,535RGDNCBI36
Celera493,307,053 - 93,307,202RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,747,064 - 91,747,213UniSTS
GeneMap99-GB4 RH Map4477.24UniSTS
NCBI RH Map41092.2UniSTS
SHGC-24790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,808,414 - 95,808,540UniSTSGRCh37
Build 36496,027,437 - 96,027,563RGDNCBI36
Celera493,105,447 - 93,105,573RGD
Cytogenetic Map4q22-q24UniSTS
TNG Radiation Hybrid Map458319.0UniSTS
GeneMap99-GB4 RH Map4476.62UniSTS
Whitehead-RH Map4524.1UniSTS
NCBI RH Map41092.2UniSTS
GeneMap99-G3 RH Map45268.0UniSTS
SHGC-51758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37495,883,058 - 95,883,185UniSTSGRCh37
Build 36496,102,081 - 96,102,208RGDNCBI36
Celera493,179,765 - 93,179,892RGD
Cytogenetic Map4q22-q24UniSTS
HuRef491,619,800 - 91,619,927UniSTS
RH70713  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q22-q24UniSTS
GeneMap99-GB4 RH Map4479.95UniSTS
NCBI RH Map41092.2UniSTS
MARC_8975-8976:1025019065:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37496,051,111 - 96,052,393UniSTSGRCh37
Celera493,347,776 - 93,349,058UniSTS
HuRef491,787,805 - 91,789,087UniSTS


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 262 244 23 4 2 4 615 252 1008 80 369 29 2 607
Low 1680 1305 1113 227 262 94 2635 1173 2674 206 951 1247 145 1 746 1604 1
Below cutoff 391 1124 510 336 769 311 1098 758 39 94 118 275 26 456 577 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW299723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D89675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U89326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264568   ⟹   ENSP00000264568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl495,091,491 - 95,154,817 (+)Ensembl
RefSeq Acc Id: ENST00000394931   ⟹   ENSP00000378389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl495,104,355 - 95,155,016 (+)Ensembl
RefSeq Acc Id: ENST00000440890   ⟹   ENSP00000401907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl495,051,677 - 95,158,448 (+)Ensembl
RefSeq Acc Id: ENST00000502683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl495,091,434 - 95,123,816 (+)Ensembl
RefSeq Acc Id: ENST00000506363   ⟹   ENSP00000421144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,995,796 - 95,123,835 (+)Ensembl
RefSeq Acc Id: ENST00000509540   ⟹   ENSP00000421671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,995,943 - 95,156,876 (+)Ensembl
RefSeq Acc Id: ENST00000512312   ⟹   ENSP00000425444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,996,232 - 95,154,673 (+)Ensembl
RefSeq Acc Id: ENST00000515059   ⟹   ENSP00000426617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,757,955 - 95,158,448 (+)Ensembl
RefSeq Acc Id: ENST00000672698   ⟹   ENSP00000500035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,974,984 - 95,157,357 (+)Ensembl
RefSeq Acc Id: NM_001203   ⟹   NP_001194
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,757,955 - 95,158,448 (+)NCBI
GRCh37495,679,128 - 96,079,601 (+)ENTREZGENE
Build 36495,898,151 - 96,295,099 (+)NCBI Archive
HuRef491,416,328 - 91,816,286 (+)ENTREZGENE
CHM1_1495,656,120 - 96,056,666 (+)NCBI
T2T-CHM13v2.0498,073,083 - 98,473,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256792   ⟹   NP_001243721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,995,840 - 95,158,448 (+)NCBI
GRCh37495,679,128 - 96,079,601 (+)NCBI
HuRef491,416,328 - 91,816,286 (+)NCBI
CHM1_1495,894,331 - 96,056,666 (+)NCBI
T2T-CHM13v2.0498,310,619 - 98,473,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256793   ⟹   NP_001243722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38495,051,677 - 95,158,448 (+)NCBI
GRCh37495,679,128 - 96,079,601 (+)NCBI
HuRef491,416,328 - 91,816,286 (+)NCBI
CHM1_1495,949,905 - 96,056,666 (+)NCBI
T2T-CHM13v2.0498,366,444 - 98,473,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256794   ⟹   NP_001243723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38495,091,491 - 95,158,450 (+)NCBI
GRCh37495,679,128 - 96,079,601 (+)NCBI
HuRef491,416,328 - 91,816,286 (+)NCBI
CHM1_1495,989,721 - 96,056,666 (+)NCBI
T2T-CHM13v2.0498,406,277 - 98,473,123 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532201   ⟹   XP_011530503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,757,955 - 95,158,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008558   ⟹   XP_016864047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,860,174 - 95,158,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008559   ⟹   XP_016864048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,757,955 - 95,158,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008560   ⟹   XP_016864049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,995,840 - 95,158,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416091   ⟹   XP_047272047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,757,955 - 95,158,450 (+)NCBI
RefSeq Acc Id: XM_047416093   ⟹   XP_047272049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,757,955 - 95,158,450 (+)NCBI
RefSeq Acc Id: XM_047416094   ⟹   XP_047272050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,975,012 - 95,158,450 (+)NCBI
RefSeq Acc Id: XM_047416095   ⟹   XP_047272051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38495,100,945 - 95,158,450 (+)NCBI
RefSeq Acc Id: XM_054350737   ⟹   XP_054206712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,073,083 - 98,473,123 (+)NCBI
RefSeq Acc Id: XM_054350738   ⟹   XP_054206713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,175,290 - 98,473,123 (+)NCBI
RefSeq Acc Id: XM_054350739   ⟹   XP_054206714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,073,083 - 98,473,123 (+)NCBI
RefSeq Acc Id: XM_054350740   ⟹   XP_054206715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,310,159 - 98,473,123 (+)NCBI
RefSeq Acc Id: XM_054350741   ⟹   XP_054206716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,073,083 - 98,473,123 (+)NCBI
RefSeq Acc Id: XM_054350742   ⟹   XP_054206717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,073,083 - 98,473,123 (+)NCBI
RefSeq Acc Id: XM_054350743   ⟹   XP_054206718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0498,415,692 - 98,473,123 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001194 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243721 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243722 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243723 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530503 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864047 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864048 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864049 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272047 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272049 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272050 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206712 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206714 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206718 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28131 (Get FASTA)   NCBI Sequence Viewer  
  AAH47773 (Get FASTA)   NCBI Sequence Viewer  
  AAH69796 (Get FASTA)   NCBI Sequence Viewer  
  AAH69803 (Get FASTA)   NCBI Sequence Viewer  
  BAA19765 (Get FASTA)   NCBI Sequence Viewer  
  BAF85697 (Get FASTA)   NCBI Sequence Viewer  
  BAG36400 (Get FASTA)   NCBI Sequence Viewer  
  BAG61763 (Get FASTA)   NCBI Sequence Viewer  
  EAX06060 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264568
  ENSP00000264568.4
  ENSP00000378389.1
  ENSP00000401907
  ENSP00000401907.2
  ENSP00000421144.1
  ENSP00000421671
  ENSP00000421671.1
  ENSP00000425444
  ENSP00000425444.1
  ENSP00000426617
  ENSP00000426617.1
  ENSP00000500035
  ENSP00000500035.1
GenBank Protein O00238 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001194   ⟸   NM_001203
- Peptide Label: isoform b precursor
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243721   ⟸   NM_001256792
- Peptide Label: isoform b precursor
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243722   ⟸   NM_001256793
- Peptide Label: isoform a precursor
- UniProtKB: A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243723   ⟸   NM_001256794
- Peptide Label: isoform b precursor
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530503   ⟸   XM_011532201
- Peptide Label: isoform X1
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864048   ⟸   XM_017008559
- Peptide Label: isoform X1
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864047   ⟸   XM_017008558
- Peptide Label: isoform X1
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864049   ⟸   XM_017008560
- Peptide Label: isoform X1
- UniProtKB: B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot),   O00238 (UniProtKB/Swiss-Prot),   A8KAE3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000421144   ⟸   ENST00000506363
RefSeq Acc Id: ENSP00000401907   ⟸   ENST00000440890
RefSeq Acc Id: ENSP00000421671   ⟸   ENST00000509540
RefSeq Acc Id: ENSP00000378389   ⟸   ENST00000394931
RefSeq Acc Id: ENSP00000425444   ⟸   ENST00000512312
RefSeq Acc Id: ENSP00000264568   ⟸   ENST00000264568
RefSeq Acc Id: ENSP00000426617   ⟸   ENST00000515059
RefSeq Acc Id: ENSP00000500035   ⟸   ENST00000672698
RefSeq Acc Id: XP_047272049   ⟸   XM_047416093
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272047   ⟸   XM_047416091
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272050   ⟸   XM_047416094
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047272051   ⟸   XM_047416095
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206714   ⟸   XM_054350739
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206716   ⟸   XM_054350741
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206712   ⟸   XM_054350737
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206717   ⟸   XM_054350742
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206713   ⟸   XM_054350738
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206715   ⟸   XM_054350740
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206718   ⟸   XM_054350743
- Peptide Label: isoform X1
- UniProtKB: O00238 (UniProtKB/Swiss-Prot),   B4DSV1 (UniProtKB/Swiss-Prot),   B2R953 (UniProtKB/Swiss-Prot),   P78366 (UniProtKB/Swiss-Prot)
Protein Domains
Activin types I and II receptor   GS   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00238-F1-model_v2 AlphaFold O00238 1-502 view protein structure

Promoters
RGD ID:6868058
Promoter ID:EPDNEW_H7194
Type:initiation region
Name:BMPR1B_1
Description:bone morphogenetic protein receptor type 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7195  EPDNEW_H7196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,757,909 - 94,757,969EPDNEW
RGD ID:6868060
Promoter ID:EPDNEW_H7195
Type:single initiation site
Name:BMPR1B_3
Description:bone morphogenetic protein receptor type 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7194  EPDNEW_H7196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,865,952 - 94,866,012EPDNEW
RGD ID:6868062
Promoter ID:EPDNEW_H7196
Type:initiation region
Name:BMPR1B_2
Description:bone morphogenetic protein receptor type 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7194  EPDNEW_H7195  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,996,314 - 94,996,374EPDNEW
RGD ID:6802070
Promoter ID:HG_KWN:48754
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000253609
Position:
Human AssemblyChrPosition (strand)Source
Build 36495,898,046 - 95,898,546 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1077 AgrOrtholog
COSMIC BMPR1B COSMIC
Ensembl Genes ENSG00000138696 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264568 ENTREZGENE
  ENST00000264568.8 UniProtKB/Swiss-Prot
  ENST00000394931.1 UniProtKB/Swiss-Prot
  ENST00000440890 ENTREZGENE
  ENST00000440890.7 UniProtKB/Swiss-Prot
  ENST00000506363.5 UniProtKB/TrEMBL
  ENST00000509540 ENTREZGENE
  ENST00000509540.6 UniProtKB/Swiss-Prot
  ENST00000512312 ENTREZGENE
  ENST00000512312.5 UniProtKB/Swiss-Prot
  ENST00000515059 ENTREZGENE
  ENST00000515059.6 UniProtKB/Swiss-Prot
  ENST00000672698 ENTREZGENE
  ENST00000672698.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.60.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138696 GTEx
HGNC ID HGNC:1077 ENTREZGENE
Human Proteome Map BMPR1B Human Proteome Map
InterPro Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snake_toxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFB_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:658 UniProtKB/Swiss-Prot
NCBI Gene 658 ENTREZGENE
OMIM 603248 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN RECEPTOR TYPE-1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_beta_GS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25387 PharmGKB
PRINTS ACTIVIN2R UniProtKB/Swiss-Prot
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KAE3 ENTREZGENE, UniProtKB/TrEMBL
  B2R953 ENTREZGENE
  B4DSV1 ENTREZGENE
  BMR1B_HUMAN UniProtKB/Swiss-Prot
  D6RGW8_HUMAN UniProtKB/TrEMBL
  O00238 ENTREZGENE
  P78366 ENTREZGENE
UniProt Secondary B2R953 UniProtKB/Swiss-Prot
  B4DSV1 UniProtKB/Swiss-Prot
  P78366 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 BMPR1B  bone morphogenetic protein receptor type 1B    bone morphogenetic protein receptor type IB  Symbol and/or name change 5135510 APPROVED
2015-12-08 BMPR1B  bone morphogenetic protein receptor type IB    bone morphogenetic protein receptor, type IB  Symbol and/or name change 5135510 APPROVED