BMP1 (bone morphogenetic protein 1) - Rat Genome Database

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Gene: BMP1 (bone morphogenetic protein 1) Homo sapiens
Analyze
Symbol: BMP1
Name: bone morphogenetic protein 1
RGD ID: 1605441
HGNC Page HGNC:1067
Description: Enables identical protein binding activity and peptidase activity. Involved in proteolysis. Acts upstream of or within positive regulation of cartilage development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in osteogenesis imperfecta type 13.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ44432; mammalian tolloid protein; OI13; PCOLC; PCP; pCP-2; PCP2; procollagen C-endopeptidase; procollagen C-proteinase; procollagen C-proteinase 3; TLD; tolloid-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,165,372 - 22,212,326 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl822,165,140 - 22,212,326 (+)EnsemblGRCh38hg38GRCh38
GRCh37822,022,885 - 22,069,839 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,078,835 - 22,125,782 (+)NCBINCBI36Build 36hg18NCBI36
Celera820,984,783 - 21,032,542 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef820,564,967 - 20,612,031 (+)NCBIHuRef
CHM1_1822,224,312 - 22,271,500 (+)NCBICHM1_1
T2T-CHM13v2.0822,439,316 - 22,486,280 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (ISO)
astemizole  (ISO)
bacitracin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
calciol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corn oil  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (ISO)
dextran sulfate  (ISO)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
fipronil  (ISO)
flutamide  (ISO)
gentamycin  (ISO)
glycerol 2-phosphate  (ISO)
graphene oxide  (EXP)
L-ascorbic acid  (ISO)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitric oxide  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenytoin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
simvastatin  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
tunicamycin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA,TAS)
extracellular space  (IBA,IEA,ISO)
Golgi apparatus  (IEA)
vesicle  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Tissue remodeling in the acute otitis media mouse model. Sautter NB, etal., Int J Pediatr Otorhinolaryngol. 2011 Nov;75(11):1368-71. doi: 10.1016/j.ijporl.2011.07.026. Epub 2011 Sep 1.
Additional References at PubMed
PMID:2004778   PMID:3201241   PMID:7798260   PMID:8404039   PMID:8530106   PMID:8553073   PMID:8643539   PMID:9500680   PMID:10479448   PMID:10806203   PMID:11260715   PMID:11283002  
PMID:11741999   PMID:11986329   PMID:12218058   PMID:12393877   PMID:12477932   PMID:12637537   PMID:12637569   PMID:14702039   PMID:14759258   PMID:15225209   PMID:15525470   PMID:15591058  
PMID:15817489   PMID:15857508   PMID:16169070   PMID:16344560   PMID:16507574   PMID:16806233   PMID:17071617   PMID:17255107   PMID:17407447   PMID:17516847   PMID:17548836   PMID:18056036  
PMID:18349123   PMID:18624398   PMID:18824173   PMID:18854154   PMID:19305382   PMID:19323056   PMID:19429706   PMID:19617627   PMID:19801683   PMID:20026052   PMID:20043912   PMID:20207734  
PMID:20237496   PMID:20628624   PMID:20955454   PMID:20979576   PMID:21258932   PMID:21415150   PMID:21453682   PMID:21697095   PMID:21873635   PMID:21897187   PMID:21946044   PMID:22052668  
PMID:22482805   PMID:22860217   PMID:23505323   PMID:23584484   PMID:23640157   PMID:23829672   PMID:24042462   PMID:24984282   PMID:25158199   PMID:25214535   PMID:25402547   PMID:25543063  
PMID:25656619   PMID:25701650   PMID:25944709   PMID:26496610   PMID:26592459   PMID:26760575   PMID:26944735   PMID:27576954   PMID:27782377   PMID:28365001   PMID:28513615   PMID:28514442  
PMID:28883005   PMID:28944874   PMID:29720137   PMID:30062502   PMID:30638953   PMID:31155610   PMID:31388055   PMID:31600776   PMID:31819067   PMID:32281291   PMID:32636307   PMID:32694731  
PMID:33085247   PMID:33169406   PMID:33961781   PMID:34299191   PMID:34943047   PMID:35013172   PMID:35013218   PMID:35696571   PMID:35703132   PMID:36267461   PMID:36418055   PMID:36468782  
PMID:36899173   PMID:37235726   PMID:37657115   PMID:37949218   PMID:38216590  


Genomics

Comparative Map Data
BMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38822,165,372 - 22,212,326 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl822,165,140 - 22,212,326 (+)EnsemblGRCh38hg38GRCh38
GRCh37822,022,885 - 22,069,839 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36822,078,835 - 22,125,782 (+)NCBINCBI36Build 36hg18NCBI36
Celera820,984,783 - 21,032,542 (+)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef820,564,967 - 20,612,031 (+)NCBIHuRef
CHM1_1822,224,312 - 22,271,500 (+)NCBICHM1_1
T2T-CHM13v2.0822,439,316 - 22,486,280 (+)NCBIT2T-CHM13v2.0
Bmp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391470,711,998 - 70,758,280 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1470,711,998 - 70,757,674 (-)EnsemblGRCm39 Ensembl
GRCm381470,474,555 - 70,520,716 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1470,474,558 - 70,520,234 (-)EnsemblGRCm38mm10GRCm38
MGSCv371470,874,362 - 70,920,067 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361469,209,638 - 69,255,268 (-)NCBIMGSCv36mm8
Celera1468,015,981 - 68,061,716 (-)NCBICelera
Cytogenetic Map14D2NCBI
cM Map1436.32NCBI
Bmp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81551,961,310 - 52,005,597 (-)NCBIGRCr8
mRatBN7.21545,551,603 - 45,595,862 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1545,551,603 - 45,595,776 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1549,669,483 - 49,713,645 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01550,780,998 - 50,825,151 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01547,640,279 - 47,684,442 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01552,166,401 - 52,210,786 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1552,166,401 - 52,210,746 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01555,889,918 - 55,934,263 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41550,878,144 - 50,922,313 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11550,910,779 - 50,923,437 (-)NCBI
Celera1545,230,611 - 45,274,179 (-)NCBICelera
Cytogenetic Map15p11NCBI
Bmp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540345,660,588 - 45,693,724 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540345,660,591 - 45,693,724 (+)NCBIChiLan1.0ChiLan1.0
BMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2740,666,831 - 40,714,042 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1816,392,228 - 16,439,248 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0821,410,139 - 21,457,144 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1818,349,836 - 18,396,796 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl818,349,836 - 18,396,796 (+)Ensemblpanpan1.1panPan2
BMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12535,043,594 - 35,087,282 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2535,020,751 - 35,087,545 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2535,633,298 - 35,676,927 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02535,255,039 - 35,298,679 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2535,255,044 - 35,298,662 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12535,200,533 - 35,244,157 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02535,055,062 - 35,098,676 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02535,210,570 - 35,254,197 (-)NCBIUU_Cfam_GSD_1.0
Bmp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494312,546,649 - 12,579,706 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365555,990,836 - 6,023,878 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365555,990,822 - 6,023,864 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl146,443,912 - 6,489,063 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1146,443,773 - 6,489,066 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2146,881,220 - 6,923,093 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1820,234,242 - 20,281,768 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl820,234,184 - 20,283,467 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605221,954,309 - 22,001,797 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475817,744,821 - 17,788,510 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475817,745,344 - 17,788,183 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMP1
855 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006129.5(BMP1):c.275C>T (p.Thr92Ile) single nucleotide variant not provided [RCV000728908] Chr8:22176155 [GRCh38]
Chr8:22033668 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.416T>C (p.Ile139Thr) single nucleotide variant Inborn genetic diseases [RCV002535071]|not provided [RCV000728387] Chr8:22176296 [GRCh38]
Chr8:22033809 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000030846] Chr8:22177868 [GRCh38]
Chr8:22035381 [GRCh37]
Chr8:8p21.3		 pathogenic|likely pathogenic
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) single nucleotide variant Abnormality of the skeletal system [RCV001814013]|Osteogenesis imperfecta type 13 [RCV000030847]|not provided [RCV000059794] Chr8:22165439 [GRCh38]
Chr8:22022952 [GRCh37]
Chr8:8p21.3		 pathogenic|likely pathogenic|not provided
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 copy number gain See cases [RCV000053636] Chr8:21654619..23001935 [GRCh38]
Chr8:21512131..22859448 [GRCh37]
Chr8:21556411..22915393 [NCBI36]
Chr8:8p21.3		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] Chr8:21482945..22853239 [GRCh38]
Chr8:21340456..22710752 [GRCh37]
Chr8:21384736..22766697 [NCBI36]
Chr8:8p21.3		 pathogenic
NM_006129.4(BMP1):c.2107+1759C>T single nucleotide variant Malignant melanoma [RCV000068239] Chr8:22199179 [GRCh38]
Chr8:22056692 [GRCh37]
Chr8:22112637 [NCBI36]
Chr8:8p21.3		 not provided
NM_006129.5(BMP1):c.2108-359T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000170453] Chr8:22201444 [GRCh38]
Chr8:22058957 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2107G>C (p.Asp703His) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000170454] Chr8:22197420 [GRCh38]
Chr8:22054933 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.808A>G (p.Met270Val) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000170455] Chr8:22177929 [GRCh38]
Chr8:22035442 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000170456]|not provided [RCV003556216] Chr8:22194174 [GRCh38]
Chr8:22051687 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2322G>A (p.Thr774=) single nucleotide variant BMP1-related condition [RCV003931206]|not provided [RCV001572436] Chr8:22206942 [GRCh38]
Chr8:22064455 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_006129.5(BMP1):c.1770T>C (p.Ala590=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000267951]|not provided [RCV002058721]|not specified [RCV000608846] Chr8:22196684 [GRCh38]
Chr8:22054197 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000303001] Chr8:22195506 [GRCh38]
Chr8:22053019 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2575+14T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000346790]|not provided [RCV002058724]|not specified [RCV000615497] Chr8:22207530 [GRCh38]
Chr8:22065043 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2724C>T (p.Thr908=) single nucleotide variant Osteogenesis imperfecta [RCV002278625]|Osteogenesis imperfecta type 13 [RCV000305191]|not provided [RCV000900084] Chr8:22209593 [GRCh38]
Chr8:22067106 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.*452A>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000325959] Chr8:22212180 [GRCh38]
Chr8:22069693 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2115C>T (p.Asp705=) single nucleotide variant Osteogenesis imperfecta [RCV002278622]|Osteogenesis imperfecta type 13 [RCV000374412]|not provided [RCV000834045] Chr8:22201810 [GRCh38]
Chr8:22059323 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2594G>A (p.Arg865Gln) single nucleotide variant Inborn genetic diseases [RCV002523672]|Osteogenesis imperfecta type 13 [RCV000399111]|not provided [RCV001861319] Chr8:22209463 [GRCh38]
Chr8:22066976 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.433+12A>G single nucleotide variant Osteogenesis imperfecta type 13 [RCV000349524]|not provided [RCV002058718]|not specified [RCV003479108] Chr8:22176325 [GRCh38]
Chr8:22033838 [GRCh37]
Chr8:8p21.3		 benign|likely benign|uncertain significance
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) single nucleotide variant Osteogenesis imperfecta [RCV002278624]|Osteogenesis imperfecta type 13 [RCV000289432]|not provided [RCV000834502]|not specified [RCV001580015] Chr8:22207391 [GRCh38]
Chr8:22064904 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000309014] Chr8:22194799 [GRCh38]
Chr8:22052312 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2430G>T (p.Gly810=) single nucleotide variant BMP1-related condition [RCV003922628]|Osteogenesis imperfecta type 13 [RCV000352461]|not provided [RCV001551908] Chr8:22207371 [GRCh38]
Chr8:22064884 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2205C>G (p.Leu735=) single nucleotide variant Osteogenesis imperfecta [RCV002278623]|Osteogenesis imperfecta type 13 [RCV000330190]|not provided [RCV002058723]|not specified [RCV000609690] Chr8:22201900 [GRCh38]
Chr8:22059413 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.*333G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV000331879] Chr8:22212061 [GRCh38]
Chr8:22069574 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.402C>T (p.Val134=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000401558]|not provided [RCV002058717] Chr8:22176282 [GRCh38]
Chr8:22033795 [GRCh37]
Chr8:8p21.3		 benign|uncertain significance
NM_006129.5(BMP1):c.421G>A (p.Gly141Arg) single nucleotide variant Inborn genetic diseases [RCV003278790]|Osteogenesis imperfecta type 13 [RCV000292289] Chr8:22176301 [GRCh38]
Chr8:22033814 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2445C>T (p.Ala815=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000381539]|not provided [RCV002524559] Chr8:22207386 [GRCh38]
Chr8:22064899 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.*108A>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000260442]|not provided [RCV001591033] Chr8:22211836 [GRCh38]
Chr8:22069349 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.*444C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV000277986] Chr8:22212172 [GRCh38]
Chr8:22069685 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1443+12G>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000407984]|not provided [RCV001569470] Chr8:22194602 [GRCh38]
Chr8:22052115 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000314423] Chr8:22192149 [GRCh38]
Chr8:22049662 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1766-5C>T single nucleotide variant Osteogenesis imperfecta [RCV002278620]|Osteogenesis imperfecta type 13 [RCV000360129]|not provided [RCV000947099]|not specified [RCV000603624] Chr8:22196675 [GRCh38]
Chr8:22054188 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2406C>T (p.Tyr802=) single nucleotide variant BMP1-related condition [RCV003922627]|Osteogenesis imperfecta type 13 [RCV000387090]|not provided [RCV000969540] Chr8:22207347 [GRCh38]
Chr8:22064860 [GRCh37]
Chr8:8p21.3		 benign|likely benign|uncertain significance
NM_006129.5(BMP1):c.2155G>A (p.Val719Ile) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000263437]|not provided [RCV002058722]|not specified [RCV000610827] Chr8:22201850 [GRCh38]
Chr8:22059363 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe) single nucleotide variant Osteogenesis imperfecta [RCV002278621]|Osteogenesis imperfecta type 13 [RCV000316055]|not provided [RCV000433788]|not specified [RCV003987522] Chr8:22197388 [GRCh38]
Chr8:22054901 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1317G>A (p.Val439=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000362174]|not provided [RCV002058719] Chr8:22194464 [GRCh38]
Chr8:22051977 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.*350C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV000388492] Chr8:22212078 [GRCh38]
Chr8:22069591 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1624G>A (p.Val542Ile) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000264478]|not provided [RCV002524558] Chr8:22194904 [GRCh38]
Chr8:22052417 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2640C>A (p.Gly880=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000340240]|not provided [RCV002058725]|not specified [RCV000616630] Chr8:22209509 [GRCh38]
Chr8:22067022 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) single nucleotide variant BMP1-related condition [RCV003932501]|Osteogenesis imperfecta [RCV002278618]|Osteogenesis imperfecta type 13 [RCV000390419]|not provided [RCV000883054]|not specified [RCV000414178] Chr8:22192083 [GRCh38]
Chr8:22049596 [GRCh37]
Chr8:8p21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006129.5(BMP1):c.1623C>T (p.Ala541=) single nucleotide variant Osteogenesis imperfecta [RCV002278619]|Osteogenesis imperfecta type 13 [RCV000366133]|not provided [RCV002058720] Chr8:22194903 [GRCh38]
Chr8:22052416 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2688C>T (p.Ala896=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000391058]|not provided [RCV002058726]|not specified [RCV000612213] Chr8:22209557 [GRCh38]
Chr8:22067070 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.*145T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000300264]|not provided [RCV001595001] Chr8:22211873 [GRCh38]
Chr8:22069386 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2590G>T (p.Val864Leu) single nucleotide variant not provided [RCV000382990] Chr8:22209459 [GRCh38]
Chr8:22066972 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.*325C>G single nucleotide variant Osteogenesis imperfecta type 13 [RCV000274432] Chr8:22212053 [GRCh38]
Chr8:22069566 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2108-598G>A single nucleotide variant BMP1-related condition [RCV003909963]|not specified [RCV000296592] Chr8:22201205 [GRCh38]
Chr8:22058718 [GRCh37]
Chr8:8p21.3		 likely benign
NM_003018.3(SFTPC):c.-134G>C single nucleotide variant Interstitial lung disease 2 [RCV000392960]|Osteogenesis Imperfecta, Recessive [RCV000346624]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000311642]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001158818]|not provided [RCV001653736] Chr8:22161695 [GRCh38]
Chr8:22019208 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.*513A>G single nucleotide variant Osteogenesis imperfecta type 13 [RCV000382872] Chr8:22212241 [GRCh38]
Chr8:22069754 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.4(BMP1):c.-170A>G single nucleotide variant Interstitial lung disease 2 [RCV000325246]|Osteogenesis Imperfecta, Recessive [RCV000324647]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000384450]|not provided [RCV000834044] Chr8:22165236 [GRCh38]
Chr8:22022749 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000295296] Chr8:22207370 [GRCh38]
Chr8:22064883 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001317778.2(SFTPC):c.539G>A (p.Ser180Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002345476]|Interstitial lung disease 2 [RCV000277733]|Osteogenesis Imperfecta, Recessive [RCV000401939]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000367594]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163945]|not provided [RCV001682869]|not specified [RCV000151858] Chr8:22164004 [GRCh38]
Chr8:22021517 [GRCh37]
Chr8:8p21.3		 benign
NM_001317778.2(SFTPC):c.436-26C>G single nucleotide variant Interstitial lung disease 2 [RCV000344147]|Osteogenesis Imperfecta, Recessive [RCV000352001]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000390443]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160262]|not provided [RCV001682868]|not specified [RCV000151857] Chr8:22163875 [GRCh38]
Chr8:22021388 [GRCh37]
Chr8:8p21.3		 benign
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) single nucleotide variant Hereditary pulmonary alveolar proteinosis [RCV002326871]|Interstitial lung disease 2 [RCV000387624]|Osteogenesis Imperfecta, Recessive [RCV000311252]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000289134]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160261]|not provided [RCV001618306]|not specified [RCV000151856] Chr8:22163524 [GRCh38]
Chr8:22021037 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001317778.2(SFTPC):c.201+14G>A single nucleotide variant Interstitial lung disease 2 [RCV000358246]|Osteogenesis Imperfecta, Recessive [RCV000407806]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000303558]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001163844]|not provided [RCV001682867]|not specified [RCV000151855] Chr8:22162746 [GRCh38]
Chr8:22020259 [GRCh37]
Chr8:8p21.3		 benign|likely benign
Single allele variation Osteogenesis Imperfecta, Recessive [RCV000358666] Chr8:22021933..22021934 [GRCh37] likely benign
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162110]|not provided [RCV000597608] Chr8:22201829 [GRCh38]
Chr8:22059342 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001199.3(BMP1):c.-263_-260GGAG[4] microsatellite Osteogenesis Imperfecta, Recessive [RCV000285880]|not provided [RCV001709636] Chr8:22165143..22165146 [GRCh38]
Chr8:22022656..22022659 [GRCh37]
Chr8:8p21.3		 benign|uncertain significance
NM_006129.5(BMP1):c.178G>A (p.Glu60Lys) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000336953]|not provided [RCV003105886] Chr8:22173631 [GRCh38]
Chr8:22031144 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2803C>T (p.Leu935=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000352912] Chr8:22209672 [GRCh38]
Chr8:22067185 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001317778.2(SFTPC):c.*173C>T single nucleotide variant Interstitial lung disease 2 [RCV000326755]|Osteogenesis Imperfecta, Recessive [RCV000262820]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000269681]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160357] Chr8:22164420 [GRCh38]
Chr8:22021933 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_001317778.2(SFTPC):c.*174G>A single nucleotide variant Interstitial lung disease 2 [RCV000272766]|Osteogenesis Imperfecta, Recessive [RCV000264445]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000314169]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001160358] Chr8:22164421 [GRCh38]
Chr8:22021934 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.4(BMP1):c.-277delG deletion Interstitial lung disease 2 [RCV000270335]|Osteogenesis Imperfecta, Recessive [RCV000324315]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000378818]|not provided [RCV001692089] Chr8:22165129 [GRCh38]
Chr8:22022642 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.-15C>G single nucleotide variant Interstitial lung disease 2 [RCV000295154]|Osteogenesis Imperfecta, Recessive [RCV000279542]|Osteogenesis imperfecta type 13 [RCV001162016]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000389548]|not specified [RCV000613710] Chr8:22165391 [GRCh38]
Chr8:22022904 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.*275G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV000357435] Chr8:22212003 [GRCh38]
Chr8:22069516 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001317778.2(SFTPC):c.*36A>G single nucleotide variant Interstitial lung disease 2 [RCV000286310]|Osteogenesis Imperfecta, Recessive [RCV000298420]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000336558]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159015] Chr8:22164283 [GRCh38]
Chr8:22021796 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.4(BMP1):c.-126G>A single nucleotide variant Interstitial lung disease 2 [RCV000349827]|Osteogenesis Imperfecta, Recessive [RCV000372244]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV000290157] Chr8:22165280 [GRCh38]
Chr8:22022793 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_001199.4(BMP1):c.2161C>T (p.Arg721Ter) single nucleotide variant not provided [RCV000579141] Chr8:22201171 [GRCh38]
Chr8:22058684 [GRCh37]
Chr8:8p21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006129.5(BMP1):c.2622C>T (p.Tyr874=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV000301713] Chr8:22209491 [GRCh38]
Chr8:22067004 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele variation Osteogenesis Imperfecta, Recessive [RCV000299240] Chr8:22021933..22021934 [GRCh37] benign
NM_001317778.2(SFTPC):c.*123G>A single nucleotide variant Interstitial lung disease 2 [RCV000301511]|Osteogenesis Imperfecta, Recessive [RCV000353332]|Pulmonary Surfactant Metabolism Dysfunction, Dominant [RCV000398642]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV001159016] Chr8:22164370 [GRCh38]
Chr8:22021883 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2717T>C (p.Phe906Ser) single nucleotide variant not provided [RCV000592516] Chr8:22209586 [GRCh38]
Chr8:22067099 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
NM_006129.5(BMP1):c.1306G>A (p.Gly436Arg) single nucleotide variant not provided [RCV000597296] Chr8:22194453 [GRCh38]
Chr8:22051966 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1045G>A (p.Val349Met) single nucleotide variant Inborn genetic diseases [RCV002535159]|not provided [RCV000730626] Chr8:22180451 [GRCh38]
Chr8:22037964 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1170G>T (p.Ala390=) single nucleotide variant not provided [RCV000914365]|not specified [RCV000733958] Chr8:22192141 [GRCh38]
Chr8:22049654 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1249C>T (p.Arg417Cys) single nucleotide variant not provided [RCV002993593] Chr8:22194126 [GRCh38]
Chr8:22051639 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4 copy number gain See cases [RCV000510404] Chr8:21521340..22492009 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006129.5(BMP1):c.2745C>T (p.Thr915=) single nucleotide variant not provided [RCV000594422] Chr8:22209614 [GRCh38]
Chr8:22067127 [GRCh37]
Chr8:8p21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006129.5(BMP1):c.1657C>T (p.Arg553Trp) single nucleotide variant Inborn genetic diseases [RCV003287435] Chr8:22195479 [GRCh38]
Chr8:22052992 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1051C>T (p.Arg351Cys) single nucleotide variant Inborn genetic diseases [RCV003281173] Chr8:22180457 [GRCh38]
Chr8:22037970 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2234-12G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164123]|not provided [RCV001704791] Chr8:22206842 [GRCh38]
Chr8:22064355 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2234-20C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV003647780]|not provided [RCV000514838]|not specified [RCV000610419] Chr8:22206834 [GRCh38]
Chr8:22064347 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.33C>T (p.Leu11=) single nucleotide variant not provided [RCV001698070] Chr8:22165438 [GRCh38]
Chr8:22022951 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2576-17C>A single nucleotide variant not provided [RCV002066665]|not specified [RCV000604146] Chr8:22209428 [GRCh38]
Chr8:22066941 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.208C>T (p.Gln70Ter) single nucleotide variant not provided [RCV000515060] Chr8:22173661 [GRCh38]
Chr8:22031174 [GRCh37]
Chr8:8p21.3		 pathogenic|likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_006129.5(BMP1):c.2713G>A (p.Val905Met) single nucleotide variant not provided [RCV000658306] Chr8:22209582 [GRCh38]
Chr8:22067095 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001199.4(BMP1):c.2180G>A (p.Arg727Gln) single nucleotide variant not provided [RCV000963360] Chr8:22201190 [GRCh38]
Chr8:22058703 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1181-290A>C single nucleotide variant not provided [RCV001611532] Chr8:22193768 [GRCh38]
Chr8:22051281 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2108-26G>A single nucleotide variant not provided [RCV001534759] Chr8:22201777 [GRCh38]
Chr8:22059290 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2427C>T (p.Asp809=) single nucleotide variant not provided [RCV000896970] Chr8:22207368 [GRCh38]
Chr8:22064881 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1071G>C (p.Gly357=) single nucleotide variant not provided [RCV000978391] Chr8:22180477 [GRCh38]
Chr8:22037990 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.731-25C>A single nucleotide variant not provided [RCV001575049] Chr8:22177827 [GRCh38]
Chr8:22035340 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2107+41G>A single nucleotide variant not provided [RCV001669179] Chr8:22197461 [GRCh38]
Chr8:22054974 [GRCh37]
Chr8:8p21.3		 benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_006129.5(BMP1):c.1640-92G>A single nucleotide variant not provided [RCV001569037] Chr8:22195370 [GRCh38]
Chr8:22052883 [GRCh37]
Chr8:8p21.3		 likely benign
NC_000008.11:g.22165068C>G single nucleotide variant not provided [RCV001546739] Chr8:22165068 [GRCh38]
Chr8:22022581 [GRCh37]
Chr8:8p21.3		 likely benign
NC_000008.11:g.22164957CGGCCCG[2] microsatellite not provided [RCV001574873] Chr8:22164955..22164961 [GRCh38]
Chr8:22022468..22022474 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.962-37G>A single nucleotide variant not provided [RCV001567971] Chr8:22180331 [GRCh38]
Chr8:22037844 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1181-292A>G single nucleotide variant not provided [RCV001568942] Chr8:22193766 [GRCh38]
Chr8:22051279 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2847G>A (p.Ser949=) single nucleotide variant Osteogenesis imperfecta [RCV002279644]|Osteogenesis imperfecta type 13 [RCV001162187]|not provided [RCV000924920] Chr8:22211614 [GRCh38]
Chr8:22069127 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1290C>T (p.Val430=) single nucleotide variant not provided [RCV000927095] Chr8:22194167 [GRCh38]
Chr8:22051680 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2487C>A (p.Pro829=) single nucleotide variant Osteogenesis imperfecta [RCV002279678]|Osteogenesis imperfecta type 13 [RCV001159221]|not provided [RCV000976582] Chr8:22207428 [GRCh38]
Chr8:22064941 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1938C>T (p.Tyr646=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162108]|not provided [RCV000983345] Chr8:22197251 [GRCh38]
Chr8:22054764 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.636C>T (p.Val212=) single nucleotide variant not provided [RCV000925447] Chr8:22177045 [GRCh38]
Chr8:22034558 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+8C>T single nucleotide variant not provided [RCV000927344] Chr8:22165561 [GRCh38]
Chr8:22023074 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.109G>T (p.Asp37Tyr) single nucleotide variant Inborn genetic diseases [RCV003246606] Chr8:22165514 [GRCh38]
Chr8:22023027 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_006129.5(BMP1):c.2576-2A>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV000778856] Chr8:22209443 [GRCh38]
Chr8:22066956 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2187C>T (p.Cys729=) single nucleotide variant not provided [RCV000918024] Chr8:22201882 [GRCh38]
Chr8:22059395 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2880G>A (p.Ser960=) single nucleotide variant not provided [RCV000929606] Chr8:22211647 [GRCh38]
Chr8:22069160 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1078-10G>A single nucleotide variant not provided [RCV000942988] Chr8:22192039 [GRCh38]
Chr8:22049552 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2700C>T (p.Tyr900=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001160573]|not provided [RCV000943216] Chr8:22209569 [GRCh38]
Chr8:22067082 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2940C>T (p.Asp980=) single nucleotide variant not provided [RCV000905931] Chr8:22211707 [GRCh38]
Chr8:22069220 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1639+10_1639+11del microsatellite not provided [RCV000899379] Chr8:22194927..22194928 [GRCh38]
Chr8:22052440..22052441 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1887C>T (p.Ile629=) single nucleotide variant not provided [RCV000902296] Chr8:22196801 [GRCh38]
Chr8:22054314 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1263T>C (p.Asn421=) single nucleotide variant not provided [RCV000842117] Chr8:22194140 [GRCh38]
Chr8:22051653 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+23T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001554236]|not provided [RCV000834297] Chr8:22195610 [GRCh38]
Chr8:22053123 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2233+79A>G single nucleotide variant not provided [RCV000834432] Chr8:22202007 [GRCh38]
Chr8:22059520 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1077+148G>C single nucleotide variant not provided [RCV000840289] Chr8:22180631 [GRCh38]
Chr8:22038144 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2575+150A>G single nucleotide variant not provided [RCV000840290] Chr8:22207666 [GRCh38]
Chr8:22065179 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1180+176A>T single nucleotide variant not provided [RCV000840724] Chr8:22192327 [GRCh38]
Chr8:22049840 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1180+228A>G single nucleotide variant not provided [RCV000840725] Chr8:22192379 [GRCh38]
Chr8:22049892 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1181-325A>G single nucleotide variant not provided [RCV000840726] Chr8:22193733 [GRCh38]
Chr8:22051246 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2576-151G>A single nucleotide variant not provided [RCV000840727] Chr8:22209294 [GRCh38]
Chr8:22066807 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1181-235C>T single nucleotide variant not provided [RCV000840817] Chr8:22193823 [GRCh38]
Chr8:22051336 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
NM_006129.5(BMP1):c.2233+165G>A single nucleotide variant not provided [RCV000840313] Chr8:22202093 [GRCh38]
Chr8:22059606 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.*223C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164218]|not provided [RCV001843568] Chr8:22211951 [GRCh38]
Chr8:22069464 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 copy number gain not provided [RCV000847279] Chr8:20564910..22629124 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.962-172A>G single nucleotide variant not provided [RCV000840728] Chr8:22180196 [GRCh38]
Chr8:22037709 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2576-103C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001554237]|not provided [RCV000834046] Chr8:22209342 [GRCh38]
Chr8:22066855 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1765+204T>C single nucleotide variant not provided [RCV000840840] Chr8:22195791 [GRCh38]
Chr8:22053304 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1766-271A>G single nucleotide variant not provided [RCV001581694] Chr8:22196409 [GRCh38]
Chr8:22053922 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+116A>G single nucleotide variant not provided [RCV000834453] Chr8:22192267 [GRCh38]
Chr8:22049780 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2827-89C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001554238]|not provided [RCV000834493] Chr8:22211505 [GRCh38]
Chr8:22069018 [GRCh37]
Chr8:8p21.3		 benign
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1 copy number loss not provided [RCV000846265] Chr8:21077580..22144930 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.455G>A (p.Arg152Gln) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164027] Chr8:22176554 [GRCh38]
Chr8:22034067 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3 copy number gain not provided [RCV000846113] Chr8:21717395..22395625 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1091T>G (p.Phe364Cys) single nucleotide variant not provided [RCV001889172] Chr8:22192062 [GRCh38]
Chr8:22049575 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2454C>T (p.Leu818=) single nucleotide variant not provided [RCV000937437] Chr8:22207395 [GRCh38]
Chr8:22064908 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.*44G>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162189]|not provided [RCV001564957] Chr8:22211772 [GRCh38]
Chr8:22069285 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.*121C>G single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162190] Chr8:22211849 [GRCh38]
Chr8:22069362 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.*172A>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162191] Chr8:22211900 [GRCh38]
Chr8:22069413 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1868C>T (p.Ala623Val) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162106] Chr8:22196782 [GRCh38]
Chr8:22054295 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3 copy number gain not provided [RCV000846785] Chr8:21840451..22037635 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006129.5(BMP1):c.*339T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164220] Chr8:22212067 [GRCh38]
Chr8:22069580 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001199.4(BMP1):c.2127G>T (p.Gln709His) single nucleotide variant not provided [RCV003104505] Chr8:22201137 [GRCh38]
Chr8:22058650 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+15C>T single nucleotide variant not provided [RCV003666184] Chr8:22192166 [GRCh38]
Chr8:22049679 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.186C>T (p.Asp62=) single nucleotide variant not provided [RCV003666104] Chr8:22173639 [GRCh38]
Chr8:22031152 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.962-175G>A single nucleotide variant not provided [RCV001575987] Chr8:22180193 [GRCh38]
Chr8:22037706 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1640-161G>C single nucleotide variant not provided [RCV001576116] Chr8:22195301 [GRCh38]
Chr8:22052814 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1078-37G>A single nucleotide variant not provided [RCV001570511] Chr8:22192012 [GRCh38]
Chr8:22049525 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2234-16A>C single nucleotide variant not provided [RCV001560627] Chr8:22206838 [GRCh38]
Chr8:22064351 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1926+88G>T single nucleotide variant not provided [RCV001619282] Chr8:22196928 [GRCh38]
Chr8:22054441 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.836+115C>T single nucleotide variant not provided [RCV001569164] Chr8:22178072 [GRCh38]
Chr8:22035585 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1926+93C>T single nucleotide variant not provided [RCV001687594] Chr8:22196933 [GRCh38]
Chr8:22054446 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2575+93G>A single nucleotide variant not provided [RCV001558331] Chr8:22207609 [GRCh38]
Chr8:22065122 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2827-108G>A single nucleotide variant not provided [RCV001558347] Chr8:22211486 [GRCh38]
Chr8:22068999 [GRCh37]
Chr8:8p21.3		 likely benign
NC_000008.11:g.22165138dup duplication not provided [RCV001595608] Chr8:22165128..22165129 [GRCh38]
Chr8:22022641..22022642 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1078-186G>C single nucleotide variant not provided [RCV001552452] Chr8:22191863 [GRCh38]
Chr8:22049376 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1077+261G>A single nucleotide variant not provided [RCV001559351] Chr8:22180744 [GRCh38]
Chr8:22038257 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+257G>C single nucleotide variant not provided [RCV001617526] Chr8:22209952 [GRCh38]
Chr8:22067465 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.962-145T>C single nucleotide variant not provided [RCV001715057] Chr8:22180223 [GRCh38]
Chr8:22037736 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.434-4G>A single nucleotide variant BMP1-related condition [RCV003936211]|not provided [RCV000978475] Chr8:22176529 [GRCh38]
Chr8:22034042 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1766-10G>A single nucleotide variant not provided [RCV000897288] Chr8:22196670 [GRCh38]
Chr8:22054183 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2244C>T (p.Asp748=) single nucleotide variant not provided [RCV000909312] Chr8:22206864 [GRCh38]
Chr8:22064377 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2141G>A (p.Arg714His) single nucleotide variant not provided [RCV000908722] Chr8:22201151 [GRCh38]
Chr8:22058664 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1422C>T (p.Gly474=) single nucleotide variant not provided [RCV000897753] Chr8:22194569 [GRCh38]
Chr8:22052082 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2488G>A (p.Val830Ile) single nucleotide variant BMP1-related condition [RCV003978086]|Inborn genetic diseases [RCV002544425]|not provided [RCV000930684] Chr8:22207429 [GRCh38]
Chr8:22064942 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1180+5C>T single nucleotide variant not provided [RCV000910371] Chr8:22192156 [GRCh38]
Chr8:22049669 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.916A>C (p.Ser306Arg) single nucleotide variant Osteogenesis imperfecta type III [RCV000860010] Chr8:22179784 [GRCh38]
Chr8:22037297 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1215C>G (p.Ile405Met) single nucleotide variant Osteogenesis imperfecta type III [RCV000860016] Chr8:22194092 [GRCh38]
Chr8:22051605 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.879C>T (p.Asn293=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164029]|not provided [RCV000889032] Chr8:22179747 [GRCh38]
Chr8:22037260 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1815G>A (p.Pro605=) single nucleotide variant not provided [RCV000930204] Chr8:22196729 [GRCh38]
Chr8:22054242 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+327T>C single nucleotide variant not provided [RCV001582064] Chr8:22192478 [GRCh38]
Chr8:22049991 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.*208G>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162192] Chr8:22211936 [GRCh38]
Chr8:22069449 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.204A>G (p.Val68=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164026]|not provided [RCV003660863] Chr8:22173657 [GRCh38]
Chr8:22031170 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1639+5C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001160470] Chr8:22194924 [GRCh38]
Chr8:22052437 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001160471]|not provided [RCV001882506] Chr8:22195500 [GRCh38]
Chr8:22053013 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2751C>T (p.Cys917=) single nucleotide variant BMP1-related condition [RCV003898156]|Osteogenesis imperfecta type 13 [RCV001160575]|not provided [RCV002070987] Chr8:22209620 [GRCh38]
Chr8:22067133 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2154C>T (p.Cys718=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164121]|not provided [RCV000889680] Chr8:22201849 [GRCh38]
Chr8:22059362 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.837-53C>G single nucleotide variant not provided [RCV001530589] Chr8:22179652 [GRCh38]
Chr8:22037165 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.837-229G>A single nucleotide variant not provided [RCV001562613] Chr8:22179476 [GRCh38]
Chr8:22036989 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-166G>C single nucleotide variant not provided [RCV001558490] Chr8:22209279 [GRCh38]
Chr8:22066792 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2361+30G>A single nucleotide variant not provided [RCV001570960] Chr8:22207011 [GRCh38]
Chr8:22064524 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+302C>T single nucleotide variant not provided [RCV001656139] Chr8:22209997 [GRCh38]
Chr8:22067510 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1639+226T>G single nucleotide variant not provided [RCV001564216] Chr8:22195145 [GRCh38]
Chr8:22052658 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.263-41C>G single nucleotide variant not provided [RCV001608450] Chr8:22176102 [GRCh38]
Chr8:22033615 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.263-221C>A single nucleotide variant not provided [RCV001621609] Chr8:22175922 [GRCh38]
Chr8:22033435 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2362-136G>A single nucleotide variant not provided [RCV001593491] Chr8:22207167 [GRCh38]
Chr8:22064680 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.552-77G>A single nucleotide variant not provided [RCV001656506] Chr8:22176884 [GRCh38]
Chr8:22034397 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.731-112dup duplication not provided [RCV001637720] Chr8:22177735..22177736 [GRCh38]
Chr8:22035248..22035249 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.239G>A (p.Arg80His) single nucleotide variant Inborn genetic diseases [RCV002579483]|Osteogenesis imperfecta [RCV002276834]|not provided [RCV001593893]|not specified [RCV001844303] Chr8:22173692 [GRCh38]
Chr8:22031205 [GRCh37]
Chr8:8p21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006129.5(BMP1):c.2233+220G>A single nucleotide variant not provided [RCV001658825] Chr8:22202148 [GRCh38]
Chr8:22059661 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1926+159C>A single nucleotide variant not provided [RCV001715814] Chr8:22196999 [GRCh38]
Chr8:22054512 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.551+146C>T single nucleotide variant not provided [RCV001710375] Chr8:22176796 [GRCh38]
Chr8:22034309 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1077+144C>T single nucleotide variant not provided [RCV001671263] Chr8:22180627 [GRCh38]
Chr8:22038140 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001160469] Chr8:22194802 [GRCh38]
Chr8:22052315 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.*22G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162188]|not provided [RCV001576431] Chr8:22211750 [GRCh38]
Chr8:22069263 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159220] Chr8:22207378 [GRCh38]
Chr8:22064891 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2575+12G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159222]|not provided [RCV002558407] Chr8:22207528 [GRCh38]
Chr8:22065041 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.*503G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159313] Chr8:22212231 [GRCh38]
Chr8:22069744 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.*525G>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159314] Chr8:22212253 [GRCh38]
Chr8:22069766 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.4(BMP1):c.*601T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159315] Chr8:22212329 [GRCh38]
Chr8:22069842 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2730G>A (p.Glu910=) single nucleotide variant Osteogenesis imperfecta [RCV002276648]|Osteogenesis imperfecta type 13 [RCV001160574]|not provided [RCV002559539] Chr8:22209599 [GRCh38]
Chr8:22067112 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2108-412G>A single nucleotide variant not provided [RCV001609762] Chr8:22201391 [GRCh38]
Chr8:22058904 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1443+39C>T single nucleotide variant not provided [RCV001585390] Chr8:22194629 [GRCh38]
Chr8:22052142 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1640-81C>T single nucleotide variant not provided [RCV001670327] Chr8:22195381 [GRCh38]
Chr8:22052894 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2827-4C>T single nucleotide variant BMP1-related condition [RCV003910910]|not provided [RCV001583218] Chr8:22211590 [GRCh38]
Chr8:22069103 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1180+109A>T single nucleotide variant not provided [RCV001614650] Chr8:22192260 [GRCh38]
Chr8:22049773 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.731-306C>T single nucleotide variant not provided [RCV001587679] Chr8:22177546 [GRCh38]
Chr8:22035059 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1077+247A>G single nucleotide variant not provided [RCV001613532] Chr8:22180730 [GRCh38]
Chr8:22038243 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1078-101G>T single nucleotide variant not provided [RCV001616507] Chr8:22191948 [GRCh38]
Chr8:22049461 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1181-319G>A single nucleotide variant not provided [RCV001565898] Chr8:22193739 [GRCh38]
Chr8:22051252 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1804A>G (p.Ile602Val) single nucleotide variant Inborn genetic diseases [RCV002558548]|Osteogenesis imperfecta type 13 [RCV001162105]|not provided [RCV002558547] Chr8:22196718 [GRCh38]
Chr8:22054231 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.434-87C>T single nucleotide variant not provided [RCV001689508] Chr8:22176446 [GRCh38]
Chr8:22033959 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164122]|not provided [RCV003727927] Chr8:22201861 [GRCh38]
Chr8:22059374 [GRCh37]
Chr8:8p21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006129.5(BMP1):c.2321C>T (p.Thr774Met) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164124]|not provided [RCV003328653] Chr8:22206941 [GRCh38]
Chr8:22064454 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.*328T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164219] Chr8:22212056 [GRCh38]
Chr8:22069569 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.941G>A (p.Arg314His) single nucleotide variant BMP1-related condition [RCV003953543]|Osteogenesis imperfecta [RCV002276647]|Osteogenesis imperfecta type 13 [RCV001159119]|not provided [RCV001514047] Chr8:22179809 [GRCh38]
Chr8:22037322 [GRCh37]
Chr8:8p21.3		 benign|likely benign
NM_006129.5(BMP1):c.1044C>T (p.Cys348=) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159120]|not provided [RCV002070960] Chr8:22180450 [GRCh38]
Chr8:22037963 [GRCh37]
Chr8:8p21.3		 benign|uncertain significance
NM_006129.5(BMP1):c.1297+14C>T single nucleotide variant Osteogenesis imperfecta type 13 [RCV001159121]|not provided [RCV002070961] Chr8:22194188 [GRCh38]
Chr8:22051701 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.837-5T>C single nucleotide variant Osteogenesis imperfecta type 13 [RCV001164028]|not provided [RCV003769793] Chr8:22179700 [GRCh38]
Chr8:22037213 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1927-13G>A single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162107]|not provided [RCV002071010] Chr8:22197227 [GRCh38]
Chr8:22054740 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2045G>A (p.Arg682His) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001162109] Chr8:22197358 [GRCh38]
Chr8:22054871 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001199.4(BMP1):c.2191T>C (p.Ter731Arg) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001619777] Chr8:22201201 [GRCh38]
Chr8:22058714 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.2543A>G (p.Gln848Arg) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001332739] Chr8:22207484 [GRCh38]
Chr8:22064997 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_006129.5(BMP1):c.2827-47C>G single nucleotide variant not provided [RCV001527785] Chr8:22211547 [GRCh38]
Chr8:22069060 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1081A>T (p.Ile361Phe) single nucleotide variant Osteogenesis imperfecta type 13 [RCV001335379] Chr8:22192052 [GRCh38]
Chr8:22049565 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
NM_006129.5(BMP1):c.962-18C>G single nucleotide variant Osteogenesis imperfecta type 13 [RCV001335380]|not provided [RCV002070201] Chr8:22180350 [GRCh38]
Chr8:22037863 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1077+134G>A single nucleotide variant not provided [RCV001527768] Chr8:22180617 [GRCh38]
Chr8:22038130 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2108-910C>A single nucleotide variant not provided [RCV001614541] Chr8:22200893 [GRCh38]
Chr8:22058406 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2361+45G>A single nucleotide variant not provided [RCV001590837] Chr8:22207026 [GRCh38]
Chr8:22064539 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.149-165G>A single nucleotide variant not provided [RCV001588227] Chr8:22173437 [GRCh38]
Chr8:22030950 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2234-83del deletion not provided [RCV001695318] Chr8:22206765 [GRCh38]
Chr8:22064278 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.149-146T>C single nucleotide variant not provided [RCV001686554] Chr8:22173456 [GRCh38]
Chr8:22030969 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1078-221C>T single nucleotide variant not provided [RCV001643620] Chr8:22191828 [GRCh38]
Chr8:22049341 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1298-109A>C single nucleotide variant not provided [RCV001708309] Chr8:22194336 [GRCh38]
Chr8:22051849 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.49C>T (p.Pro17Ser) single nucleotide variant Osteogenesis imperfecta [RCV002277872] Chr8:22165454 [GRCh38]
Chr8:22022967 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2350C>G (p.Arg784Gly) single nucleotide variant not specified [RCV001779553] Chr8:22206970 [GRCh38]
Chr8:22064483 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1954C>T (p.Arg652Cys) single nucleotide variant not provided [RCV001758493] Chr8:22197267 [GRCh38]
Chr8:22054780 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.210G>T (p.Gln70His) single nucleotide variant not provided [RCV001763811] Chr8:22173663 [GRCh38]
Chr8:22031176 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2645A>G (p.Asn882Ser) single nucleotide variant not provided [RCV001768690] Chr8:22209514 [GRCh38]
Chr8:22067027 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.310C>T (p.Pro104Ser) single nucleotide variant Inborn genetic diseases [RCV003163931]|not provided [RCV001794705] Chr8:22176190 [GRCh38]
Chr8:22033703 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1466C>T (p.Ala489Val) single nucleotide variant not provided [RCV001774043] Chr8:22194746 [GRCh38]
Chr8:22052259 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1939G>A (p.Asp647Asn) single nucleotide variant not provided [RCV001758105] Chr8:22197252 [GRCh38]
Chr8:22054765 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1753C>T (p.Arg585Cys) single nucleotide variant not provided [RCV001758178] Chr8:22195575 [GRCh38]
Chr8:22053088 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1838C>A (p.Pro613His) single nucleotide variant not provided [RCV001806551] Chr8:22196752 [GRCh38]
Chr8:22054265 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.837-5T>A single nucleotide variant not provided [RCV001987669] Chr8:22179700 [GRCh38]
Chr8:22037213 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1052G>A (p.Arg351His) single nucleotide variant not provided [RCV001985698] Chr8:22180458 [GRCh38]
Chr8:22037971 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1754G>A (p.Arg585His) single nucleotide variant Osteogenesis imperfecta [RCV002276947]|not provided [RCV001950371] Chr8:22195576 [GRCh38]
Chr8:22053089 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1129T>C (p.Tyr377His) single nucleotide variant not provided [RCV001929069] Chr8:22192100 [GRCh38]
Chr8:22049613 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2362-6C>T single nucleotide variant not provided [RCV001986657] Chr8:22207297 [GRCh38]
Chr8:22064810 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.799G>A (p.Asp267Asn) single nucleotide variant Inborn genetic diseases [RCV002545695]|Osteogenesis imperfecta type 13 [RCV003487011]|not provided [RCV002044512] Chr8:22177920 [GRCh38]
Chr8:22035433 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1523G>A (p.Arg508His) single nucleotide variant Inborn genetic diseases [RCV002557854]|not provided [RCV001914241] Chr8:22194803 [GRCh38]
Chr8:22052316 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2482G>A (p.Glu828Lys) single nucleotide variant not provided [RCV001950001] Chr8:22207423 [GRCh38]
Chr8:22064936 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1184G>T (p.Arg395Leu) single nucleotide variant Osteogenesis imperfecta type 13 [RCV003146398]|not provided [RCV001982844] Chr8:22194061 [GRCh38]
Chr8:22051574 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2809C>T (p.Arg937Cys) single nucleotide variant Inborn genetic diseases [RCV002563393]|not provided [RCV001967793] Chr8:22209678 [GRCh38]
Chr8:22067191 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1391G>A (p.Arg464Gln) single nucleotide variant not provided [RCV001967548] Chr8:22194538 [GRCh38]
Chr8:22052051 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.787A>G (p.Thr263Ala) single nucleotide variant not provided [RCV001968087] Chr8:22177908 [GRCh38]
Chr8:22035421 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3(chr8:21303187-22230498) copy number gain not specified [RCV002053755] Chr8:21303187..22230498 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.833C>G (p.Ser278Cys) single nucleotide variant not provided [RCV001892628] Chr8:22177954 [GRCh38]
Chr8:22035467 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.296G>A (p.Ser99Asn) single nucleotide variant not provided [RCV002022595] Chr8:22176176 [GRCh38]
Chr8:22033689 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1510A>C (p.Thr504Pro) single nucleotide variant not provided [RCV002023398] Chr8:22194790 [GRCh38]
Chr8:22052303 [GRCh37]
Chr8:8p21.3		 uncertain significance
NC_000008.10:g.(?_21900440)_(23564111_?)dup duplication Conotruncal heart malformations [RCV003107885]|not provided [RCV001928022] Chr8:21900440..23564111 [GRCh37]
Chr8:8p21.3-21.2		 uncertain significance|no classifications from unflagged records
NM_006129.5(BMP1):c.304G>T (p.Gly102Trp) single nucleotide variant BMP1-related condition [RCV003416546]|not provided [RCV001890913] Chr8:22176184 [GRCh38]
Chr8:22033697 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.244T>A (p.Ser82Thr) single nucleotide variant not provided [RCV001985521] Chr8:22173697 [GRCh38]
Chr8:22031210 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.724C>A (p.Gln242Lys) single nucleotide variant not provided [RCV002003687] Chr8:22177133 [GRCh38]
Chr8:22034646 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1525T>C (p.Tyr509His) single nucleotide variant not provided [RCV002043444] Chr8:22194805 [GRCh38]
Chr8:22052318 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1571G>A (p.Arg524His) single nucleotide variant not provided [RCV001969358] Chr8:22194851 [GRCh38]
Chr8:22052364 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2293G>A (p.Asp765Asn) single nucleotide variant not provided [RCV002038442] Chr8:22206913 [GRCh38]
Chr8:22064426 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1486C>T (p.Arg496Cys) single nucleotide variant not provided [RCV002038885] Chr8:22194766 [GRCh38]
Chr8:22052279 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2449G>A (p.Val817Ile) single nucleotide variant not provided [RCV001963745] Chr8:22207390 [GRCh38]
Chr8:22064903 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.856A>C (p.Ile286Leu) single nucleotide variant not provided [RCV002027048] Chr8:22179724 [GRCh38]
Chr8:22037237 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1289T>G (p.Val430Gly) single nucleotide variant Inborn genetic diseases [RCV002552846]|not provided [RCV001922240] Chr8:22194166 [GRCh38]
Chr8:22051679 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala) single nucleotide variant BMP1-related condition [RCV003976249]|Inborn genetic diseases [RCV002552929]|Osteogenesis imperfecta [RCV002276922]|Osteogenesis imperfecta type 13 [RCV002463816]|not provided [RCV001905555] Chr8:22207387 [GRCh38]
Chr8:22064900 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1471G>A (p.Asp491Asn) single nucleotide variant not provided [RCV001961427] Chr8:22194751 [GRCh38]
Chr8:22052264 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2438C>T (p.Ala813Val) single nucleotide variant not provided [RCV002051385]|not specified [RCV003487800] Chr8:22207379 [GRCh38]
Chr8:22064892 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2787C>A (p.Asp929Glu) single nucleotide variant not provided [RCV001961483] Chr8:22209656 [GRCh38]
Chr8:22067169 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.940C>T (p.Arg314Cys) single nucleotide variant not provided [RCV002029024] Chr8:22179808 [GRCh38]
Chr8:22037321 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2785G>A (p.Asp929Asn) single nucleotide variant not provided [RCV001918854] Chr8:22209654 [GRCh38]
Chr8:22067167 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1045G>C (p.Val349Leu) single nucleotide variant not provided [RCV001880452] Chr8:22180451 [GRCh38]
Chr8:22037964 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1052G>C (p.Arg351Pro) single nucleotide variant not provided [RCV001953280] Chr8:22180458 [GRCh38]
Chr8:22037971 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2383G>A (p.Glu795Lys) single nucleotide variant not provided [RCV001991303] Chr8:22207324 [GRCh38]
Chr8:22064837 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2225G>T (p.Cys742Phe) single nucleotide variant not provided [RCV001917089] Chr8:22201920 [GRCh38]
Chr8:22059433 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1232G>A (p.Arg411His) single nucleotide variant Osteogenesis imperfecta [RCV002276915]|not provided [RCV001899832] Chr8:22194109 [GRCh38]
Chr8:22051622 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2246A>G (p.His749Arg) single nucleotide variant not provided [RCV001930627] Chr8:22206866 [GRCh38]
Chr8:22064379 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.676A>T (p.Thr226Ser) single nucleotide variant not provided [RCV002030463] Chr8:22177085 [GRCh38]
Chr8:22034598 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1816G>A (p.Gly606Ser) single nucleotide variant not provided [RCV002050637] Chr8:22196730 [GRCh38]
Chr8:22054243 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2425G>A (p.Asp809Asn) single nucleotide variant not provided [RCV001922499] Chr8:22207366 [GRCh38]
Chr8:22064879 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.730+18G>A single nucleotide variant not provided [RCV002035682] Chr8:22177157 [GRCh38]
Chr8:22034670 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1614G>A (p.Ala538=) single nucleotide variant not provided [RCV002036670] Chr8:22194894 [GRCh38]
Chr8:22052407 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2234C>T (p.Ala745Val) single nucleotide variant not provided [RCV001957937] Chr8:22206854 [GRCh38]
Chr8:22064367 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2519G>A (p.Arg840His) single nucleotide variant Inborn genetic diseases [RCV002545312]|Osteogenesis imperfecta type 13 [RCV003647859]|not provided [RCV002030095] Chr8:22207460 [GRCh38]
Chr8:22064973 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2233+4C>T single nucleotide variant not provided [RCV001979124] Chr8:22201932 [GRCh38]
Chr8:22059445 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001960182] Chr8:22165407 [GRCh38]
Chr8:22022920 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.1343C>T (p.Ser448Leu) single nucleotide variant not provided [RCV001935849] Chr8:22194490 [GRCh38]
Chr8:22052003 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.86C>A (p.Thr29Asn) single nucleotide variant Inborn genetic diseases [RCV002548109]|not provided [RCV002036015] Chr8:22165491 [GRCh38]
Chr8:22023004 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2200G>A (p.Val734Ile) single nucleotide variant not provided [RCV002010092] Chr8:22201895 [GRCh38]
Chr8:22059408 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2593C>T (p.Arg865Trp) single nucleotide variant not provided [RCV001958416] Chr8:22209462 [GRCh38]
Chr8:22066975 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2387C>T (p.Ser796Phe) single nucleotide variant not provided [RCV001981103] Chr8:22207328 [GRCh38]
Chr8:22064841 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1443+6T>C single nucleotide variant not provided [RCV002035840] Chr8:22194596 [GRCh38]
Chr8:22052109 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.23C>G (p.Pro8Arg) single nucleotide variant not provided [RCV001990769] Chr8:22165428 [GRCh38]
Chr8:22022941 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2455G>A (p.Gly819Ser) single nucleotide variant Inborn genetic diseases [RCV002552934]|Osteogenesis imperfecta type 13 [RCV002506959]|not provided [RCV001905650] Chr8:22207396 [GRCh38]
Chr8:22064909 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1522C>A (p.Arg508Ser) single nucleotide variant not provided [RCV001971944] Chr8:22194802 [GRCh38]
Chr8:22052315 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1597G>C (p.Gly533Arg) single nucleotide variant not provided [RCV001989980] Chr8:22194877 [GRCh38]
Chr8:22052390 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1630T>C (p.Phe544Leu) single nucleotide variant not provided [RCV001933302] Chr8:22194910 [GRCh38]
Chr8:22052423 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1180+8C>T single nucleotide variant not provided [RCV001973020] Chr8:22192159 [GRCh38]
Chr8:22049672 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.157C>T (p.Leu53Phe) single nucleotide variant not provided [RCV001953006] Chr8:22173610 [GRCh38]
Chr8:22031123 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2189G>T (p.Arg730Leu) single nucleotide variant Inborn genetic diseases [RCV002552158]|not provided [RCV001879405] Chr8:22201884 [GRCh38]
Chr8:22059397 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1489G>A (p.Asp497Asn) single nucleotide variant Inborn genetic diseases [RCV003247151]|not provided [RCV001923318] Chr8:22194769 [GRCh38]
Chr8:22052282 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1192G>A (p.Gly398Arg) single nucleotide variant not provided [RCV001974264] Chr8:22194069 [GRCh38]
Chr8:22051582 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2506C>T (p.Arg836Cys) single nucleotide variant not provided [RCV001870055] Chr8:22207447 [GRCh38]
Chr8:22064960 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.108C>T (p.Asp36=) single nucleotide variant not provided [RCV002192118] Chr8:22165513 [GRCh38]
Chr8:22023026 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1344G>A (p.Ser448=) single nucleotide variant not provided [RCV002108253] Chr8:22194491 [GRCh38]
Chr8:22052004 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2367C>T (p.Phe789=) single nucleotide variant not provided [RCV002112817] Chr8:22207308 [GRCh38]
Chr8:22064821 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1305C>T (p.Cys435=) single nucleotide variant not provided [RCV002090183] Chr8:22194452 [GRCh38]
Chr8:22051965 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1107G>A (p.Leu369=) single nucleotide variant not provided [RCV002087510] Chr8:22192078 [GRCh38]
Chr8:22049591 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2220C>T (p.His740=) single nucleotide variant not provided [RCV002129186] Chr8:22201915 [GRCh38]
Chr8:22059428 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.965G>A (p.Cys322Tyr) single nucleotide variant Osteogenesis imperfecta type 13 [RCV002073405] Chr8:22180371 [GRCh38]
Chr8:22037884 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.211G>T (p.Ala71Ser) single nucleotide variant not provided [RCV002165682] Chr8:22173664 [GRCh38]
Chr8:22031177 [GRCh37]
Chr8:8p21.3		 benign
NM_001199.4(BMP1):c.2140C>T (p.Arg714Cys) single nucleotide variant not provided [RCV002109569] Chr8:22201150 [GRCh38]
Chr8:22058663 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1344G>T (p.Ser448=) single nucleotide variant not provided [RCV002191753] Chr8:22194491 [GRCh38]
Chr8:22052004 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2163G>A (p.Thr721=) single nucleotide variant not provided [RCV002126470] Chr8:22201858 [GRCh38]
Chr8:22059371 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2487C>T (p.Pro829=) single nucleotide variant Osteogenesis imperfecta [RCV002277001]|not provided [RCV002185341] Chr8:22207428 [GRCh38]
Chr8:22064941 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1766-18C>G single nucleotide variant not provided [RCV002127928] Chr8:22196662 [GRCh38]
Chr8:22054175 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.584dup (p.Gln197fs) duplication Osteogenesis imperfecta type 13 [RCV002073406] Chr8:22176988..22176989 [GRCh38]
Chr8:22034501..22034502 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.1860G>A (p.Gln620=) single nucleotide variant not provided [RCV002150431] Chr8:22196774 [GRCh38]
Chr8:22054287 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2436C>T (p.Asp812=) single nucleotide variant BMP1-related condition [RCV003968841]|not provided [RCV002080938] Chr8:22207377 [GRCh38]
Chr8:22064890 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.731-15T>C single nucleotide variant not provided [RCV002079610] Chr8:22177837 [GRCh38]
Chr8:22035350 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1297+17C>T single nucleotide variant not provided [RCV002116545] Chr8:22194191 [GRCh38]
Chr8:22051704 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.57C>G (p.Pro19=) single nucleotide variant not provided [RCV002126239] Chr8:22165462 [GRCh38]
Chr8:22022975 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1416C>T (p.His472=) single nucleotide variant Osteogenesis imperfecta [RCV002277025]|not provided [RCV002127716] Chr8:22194563 [GRCh38]
Chr8:22052076 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.660C>A (p.Gly220=) single nucleotide variant not provided [RCV002131614] Chr8:22177069 [GRCh38]
Chr8:22034582 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2190G>T (p.Gln730His) single nucleotide variant not provided [RCV002114549] Chr8:22201200 [GRCh38]
Chr8:22058713 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.551+20C>T single nucleotide variant not provided [RCV002150745] Chr8:22176670 [GRCh38]
Chr8:22034183 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1944C>T (p.Phe648=) single nucleotide variant not provided [RCV002215234] Chr8:22197257 [GRCh38]
Chr8:22054770 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1815G>C (p.Pro605=) single nucleotide variant not provided [RCV002130655] Chr8:22196729 [GRCh38]
Chr8:22054242 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2712C>T (p.Leu904=) single nucleotide variant BMP1-related condition [RCV003895941]|not provided [RCV002133755] Chr8:22209581 [GRCh38]
Chr8:22067094 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.149-17T>G single nucleotide variant not provided [RCV002196645] Chr8:22173585 [GRCh38]
Chr8:22031098 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+21del deletion not provided [RCV002196165] Chr8:22192168 [GRCh38]
Chr8:22049681 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2179C>T (p.Arg727Trp) single nucleotide variant not provided [RCV002087307] Chr8:22201189 [GRCh38]
Chr8:22058702 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.2108-692G>A single nucleotide variant BMP1-related condition [RCV003923478]|not provided [RCV002168045] Chr8:22201111 [GRCh38]
Chr8:22058624 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2134C>T (p.Arg712Trp) single nucleotide variant not provided [RCV002114794] Chr8:22201144 [GRCh38]
Chr8:22058657 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-702_2108-700del deletion not provided [RCV002171542] Chr8:22201099..22201101 [GRCh38]
Chr8:22058612..22058614 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006129.5(BMP1):c.2575+16G>A single nucleotide variant not provided [RCV002151563] Chr8:22207532 [GRCh38]
Chr8:22065045 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.962-18C>T single nucleotide variant not provided [RCV002097980] Chr8:22180350 [GRCh38]
Chr8:22037863 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.816C>T (p.Tyr272=) single nucleotide variant BMP1-related condition [RCV003923592]|not provided [RCV002104042] Chr8:22177937 [GRCh38]
Chr8:22035450 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.551+16T>G single nucleotide variant not provided [RCV002158391] Chr8:22176666 [GRCh38]
Chr8:22034179 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.836+9C>T single nucleotide variant not provided [RCV002101908] Chr8:22177966 [GRCh38]
Chr8:22035479 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1089C>T (p.Asn363=) single nucleotide variant not provided [RCV002163825] Chr8:22192060 [GRCh38]
Chr8:22049573 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1639+18C>G single nucleotide variant not provided [RCV002164474] Chr8:22194937 [GRCh38]
Chr8:22052450 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1098C>T (p.Ser366=) single nucleotide variant not provided [RCV002181279] Chr8:22192069 [GRCh38]
Chr8:22049582 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+7C>T single nucleotide variant not provided [RCV002120355] Chr8:22173722 [GRCh38]
Chr8:22031235 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1068C>T (p.Pro356=) single nucleotide variant not provided [RCV002178178] Chr8:22180474 [GRCh38]
Chr8:22037987 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2233+17del deletion not provided [RCV002181327] Chr8:22201945 [GRCh38]
Chr8:22059458 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2532T>C (p.Asp844=) single nucleotide variant not provided [RCV002120488] Chr8:22207473 [GRCh38]
Chr8:22064986 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1563G>A (p.Thr521=) single nucleotide variant not provided [RCV002180018] Chr8:22194843 [GRCh38]
Chr8:22052356 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1297+18G>A single nucleotide variant not provided [RCV002181906] Chr8:22194192 [GRCh38]
Chr8:22051705 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2546G>A (p.Arg849Gln) single nucleotide variant not provided [RCV003117250] Chr8:22207487 [GRCh38]
Chr8:22065000 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.186C>A (p.Asp62Glu) single nucleotide variant not provided [RCV003112291] Chr8:22173639 [GRCh38]
Chr8:22031152 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1095G>A (p.Thr365=) single nucleotide variant Osteogenesis imperfecta [RCV002277809]|not provided [RCV003096237] Chr8:22192066 [GRCh38]
Chr8:22049579 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1250G>A (p.Arg417His) single nucleotide variant Osteogenesis imperfecta [RCV002277818] Chr8:22194127 [GRCh38]
Chr8:22051640 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.928A>G (p.Ile310Val) single nucleotide variant Osteogenesis imperfecta [RCV002277874] Chr8:22179796 [GRCh38]
Chr8:22037309 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.780G>T (p.Leu260=) single nucleotide variant not provided [RCV003666102] Chr8:22177901 [GRCh38]
Chr8:22035414 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2305A>T (p.Ser769Cys) single nucleotide variant not provided [RCV002274536] Chr8:22206925 [GRCh38]
Chr8:22064438 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
NM_006129.5(BMP1):c.226C>T (p.Arg76Trp) single nucleotide variant Osteogenesis imperfecta [RCV002277852] Chr8:22173679 [GRCh38]
Chr8:22031192 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.224G>C (p.Arg75Thr) single nucleotide variant Osteogenesis imperfecta [RCV002277849] Chr8:22173677 [GRCh38]
Chr8:22031190 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
NM_006129.5(BMP1):c.717G>A (p.Glu239=) single nucleotide variant Osteogenesis imperfecta [RCV002277873]|not provided [RCV003546750] Chr8:22177126 [GRCh38]
Chr8:22034639 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006129.5(BMP1):c.820C>G (p.Arg274Gly) single nucleotide variant Osteogenesis imperfecta type 13 [RCV002463878] Chr8:22177941 [GRCh38]
Chr8:22035454 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.9C>T (p.Gly3=) single nucleotide variant not provided [RCV002991712] Chr8:22165414 [GRCh38]
Chr8:22022927 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2461T>C (p.Phe821Leu) single nucleotide variant not provided [RCV002299414] Chr8:22207402 [GRCh38]
Chr8:22064915 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1639+4C>G single nucleotide variant BMP1-related condition [RCV003418563]|not provided [RCV002617021] Chr8:22194923 [GRCh38]
Chr8:22052436 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2485C>A (p.Pro829Thr) single nucleotide variant not provided [RCV002685757] Chr8:22207426 [GRCh38]
Chr8:22064939 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1864G>C (p.Val622Leu) single nucleotide variant not provided [RCV002726630] Chr8:22196778 [GRCh38]
Chr8:22054291 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1735G>A (p.Glu579Lys) single nucleotide variant not provided [RCV002904113] Chr8:22195557 [GRCh38]
Chr8:22053070 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.563A>G (p.Tyr188Cys) single nucleotide variant not provided [RCV003013284] Chr8:22176972 [GRCh38]
Chr8:22034485 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.148+15G>A single nucleotide variant not provided [RCV002819337] Chr8:22165568 [GRCh38]
Chr8:22023081 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2704G>A (p.Val902Met) single nucleotide variant Inborn genetic diseases [RCV002879667] Chr8:22209573 [GRCh38]
Chr8:22067086 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2569G>A (p.Ala857Thr) single nucleotide variant Inborn genetic diseases [RCV002681988] Chr8:22207510 [GRCh38]
Chr8:22065023 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.148+7GCCCCCCG[3] microsatellite not provided [RCV002971708] Chr8:22165559..22165560 [GRCh38]
Chr8:22023072..22023073 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2316G>A (p.Glu772=) single nucleotide variant not provided [RCV002731002] Chr8:22206936 [GRCh38]
Chr8:22064449 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1227C>T (p.Asp409=) single nucleotide variant not provided [RCV003033354] Chr8:22194104 [GRCh38]
Chr8:22051617 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.149-19CTT[2] microsatellite not provided [RCV002616929] Chr8:22173583..22173585 [GRCh38]
Chr8:22031096..22031098 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2193A>C (p.Ter731Cys) single nucleotide variant not provided [RCV003013285] Chr8:22201203 [GRCh38]
Chr8:22058716 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.1927-10T>C single nucleotide variant not provided [RCV002617226] Chr8:22197230 [GRCh38]
Chr8:22054743 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1676G>C (p.Cys559Ser) single nucleotide variant Inborn genetic diseases [RCV002907168] Chr8:22195498 [GRCh38]
Chr8:22053011 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.712C>T (p.Arg238Cys) single nucleotide variant not provided [RCV002972646] Chr8:22177121 [GRCh38]
Chr8:22034634 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1825A>C (p.Lys609Gln) single nucleotide variant Inborn genetic diseases [RCV002993321]|not provided [RCV003126282] Chr8:22196739 [GRCh38]
Chr8:22054252 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.338G>A (p.Arg113Lys) single nucleotide variant not provided [RCV003014662] Chr8:22176218 [GRCh38]
Chr8:22033731 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1491C>T (p.Asp497=) single nucleotide variant not provided [RCV002974981] Chr8:22194771 [GRCh38]
Chr8:22052284 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2047G>A (p.Val683Met) single nucleotide variant not provided [RCV002681092] Chr8:22197360 [GRCh38]
Chr8:22054873 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.672A>G (p.Glu224=) single nucleotide variant not provided [RCV002842901] Chr8:22177081 [GRCh38]
Chr8:22034594 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2136C>T (p.Gly712=) single nucleotide variant not provided [RCV002756271] Chr8:22201831 [GRCh38]
Chr8:22059344 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.710T>C (p.Val237Ala) single nucleotide variant not provided [RCV002755923] Chr8:22177119 [GRCh38]
Chr8:22034632 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1570C>T (p.Arg524Cys) single nucleotide variant not provided [RCV002953560] Chr8:22194850 [GRCh38]
Chr8:22052363 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.603C>T (p.Ile201=) single nucleotide variant not provided [RCV002914283] Chr8:22177012 [GRCh38]
Chr8:22034525 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2233+5G>A single nucleotide variant not provided [RCV002592925] Chr8:22201933 [GRCh38]
Chr8:22059446 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.262+20G>A single nucleotide variant not provided [RCV002593372] Chr8:22173735 [GRCh38]
Chr8:22031248 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.911G>A (p.Arg304Gln) single nucleotide variant not provided [RCV002705418] Chr8:22179779 [GRCh38]
Chr8:22037292 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.238C>T (p.Arg80Cys) single nucleotide variant Inborn genetic diseases [RCV002639171]|not provided [RCV002639170] Chr8:22173691 [GRCh38]
Chr8:22031204 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2490C>T (p.Val830=) single nucleotide variant not provided [RCV003080061] Chr8:22207431 [GRCh38]
Chr8:22064944 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.984C>A (p.Asp328Glu) single nucleotide variant Inborn genetic diseases [RCV002661014] Chr8:22180390 [GRCh38]
Chr8:22037903 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2310G>A (p.Lys770=) single nucleotide variant not provided [RCV002591533] Chr8:22206930 [GRCh38]
Chr8:22064443 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.836+14T>C single nucleotide variant not provided [RCV002781509] Chr8:22177971 [GRCh38]
Chr8:22035484 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1699C>G (p.Leu567Val) single nucleotide variant not provided [RCV003001956] Chr8:22195521 [GRCh38]
Chr8:22053034 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.730+9C>G single nucleotide variant not provided [RCV002913169] Chr8:22177148 [GRCh38]
Chr8:22034661 [GRCh37]
Chr8:8p21.3		 likely benign|uncertain significance
NM_006129.5(BMP1):c.311C>G (p.Pro104Arg) single nucleotide variant Inborn genetic diseases [RCV002869348] Chr8:22176191 [GRCh38]
Chr8:22033704 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1456G>A (p.Asp486Asn) single nucleotide variant Inborn genetic diseases [RCV003089679]|not provided [RCV003078750] Chr8:22194736 [GRCh38]
Chr8:22052249 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2870A>T (p.Lys957Met) single nucleotide variant not provided [RCV002570856] Chr8:22211637 [GRCh38]
Chr8:22069150 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1882C>T (p.Arg628Cys) single nucleotide variant Inborn genetic diseases [RCV002911950] Chr8:22196796 [GRCh38]
Chr8:22054309 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1838C>T (p.Pro613Leu) single nucleotide variant not provided [RCV002620833] Chr8:22196752 [GRCh38]
Chr8:22054265 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.962-4A>G single nucleotide variant not provided [RCV002619166] Chr8:22180364 [GRCh38]
Chr8:22037877 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+8G>A single nucleotide variant not provided [RCV002569747] Chr8:22173723 [GRCh38]
Chr8:22031236 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2116C>A (p.Pro706Thr) single nucleotide variant not provided [RCV003037756] Chr8:22201126 [GRCh38]
Chr8:22058639 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1640-19C>A single nucleotide variant not provided [RCV002824221] Chr8:22195443 [GRCh38]
Chr8:22052956 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2432G>A (p.Arg811Gln) single nucleotide variant not provided [RCV002959013] Chr8:22207373 [GRCh38]
Chr8:22064886 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2184A>G (p.Gln728=) single nucleotide variant not provided [RCV002790869] Chr8:22201879 [GRCh38]
Chr8:22059392 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2137G>A (p.Gly713Ser) single nucleotide variant not provided [RCV002933219] Chr8:22201832 [GRCh38]
Chr8:22059345 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2850G>A (p.Ala950=) single nucleotide variant not provided [RCV002710840] Chr8:22211617 [GRCh38]
Chr8:22069130 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1297+15G>A single nucleotide variant not provided [RCV002805891] Chr8:22194189 [GRCh38]
Chr8:22051702 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.711T>G (p.Val237=) single nucleotide variant not provided [RCV003024476] Chr8:22177120 [GRCh38]
Chr8:22034633 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2338A>C (p.Thr780Pro) single nucleotide variant not provided [RCV002791594] Chr8:22206958 [GRCh38]
Chr8:22064471 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1535A>G (p.Tyr512Cys) single nucleotide variant Inborn genetic diseases [RCV002713470] Chr8:22194815 [GRCh38]
Chr8:22052328 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.148G>A (p.Ala50Thr) single nucleotide variant not provided [RCV002597213] Chr8:22165553 [GRCh38]
Chr8:22023066 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1058C>T (p.Ser353Phe) single nucleotide variant not provided [RCV003042872] Chr8:22180464 [GRCh38]
Chr8:22037977 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1669G>A (p.Gly557Arg) single nucleotide variant Inborn genetic diseases [RCV002891828] Chr8:22195491 [GRCh38]
Chr8:22053004 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2602G>A (p.Val868Met) single nucleotide variant not provided [RCV002625162] Chr8:22209471 [GRCh38]
Chr8:22066984 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2167G>A (p.Gly723Ser) single nucleotide variant not provided [RCV002623301] Chr8:22201862 [GRCh38]
Chr8:22059375 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1184G>A (p.Arg395His) single nucleotide variant not provided [RCV002574093] Chr8:22194061 [GRCh38]
Chr8:22051574 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.119C>T (p.Pro40Leu) single nucleotide variant Inborn genetic diseases [RCV002641676] Chr8:22165524 [GRCh38]
Chr8:22023037 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2234-19G>A single nucleotide variant not provided [RCV002575591] Chr8:22206835 [GRCh38]
Chr8:22064348 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2616C>T (p.Asp872=) single nucleotide variant not provided [RCV002876558] Chr8:22209485 [GRCh38]
Chr8:22066998 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2077A>G (p.Lys693Glu) single nucleotide variant BMP1-related condition [RCV003900887]|Inborn genetic diseases [RCV002767254] Chr8:22197390 [GRCh38]
Chr8:22054903 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.262+16A>G single nucleotide variant not provided [RCV002574900] Chr8:22173731 [GRCh38]
Chr8:22031244 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.923G>A (p.Gly308Glu) single nucleotide variant not provided [RCV002741771] Chr8:22179791 [GRCh38]
Chr8:22037304 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2431C>T (p.Arg811Ter) single nucleotide variant not provided [RCV002891225] Chr8:22207372 [GRCh38]
Chr8:22064885 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.149-8C>G single nucleotide variant not provided [RCV002596747] Chr8:22173594 [GRCh38]
Chr8:22031107 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1969G>A (p.Ala657Thr) single nucleotide variant Inborn genetic diseases [RCV002712665] Chr8:22197282 [GRCh38]
Chr8:22054795 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2343C>G (p.Pro781=) single nucleotide variant not provided [RCV002872598] Chr8:22206963 [GRCh38]
Chr8:22064476 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1945G>A (p.Val649Met) single nucleotide variant not provided [RCV002666999] Chr8:22197258 [GRCh38]
Chr8:22054771 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1036A>T (p.Met346Leu) single nucleotide variant Inborn genetic diseases [RCV002874082] Chr8:22180442 [GRCh38]
Chr8:22037955 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_001199.4(BMP1):c.2161del (p.Arg721fs) deletion not provided [RCV002700390] Chr8:22201170 [GRCh38]
Chr8:22058683 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.7G>C (p.Gly3Arg) single nucleotide variant not provided [RCV002966970] Chr8:22165412 [GRCh38]
Chr8:22022925 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2628C>T (p.His876=) single nucleotide variant not provided [RCV003091331] Chr8:22209497 [GRCh38]
Chr8:22067010 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1927-16C>T single nucleotide variant not provided [RCV003046952] Chr8:22197224 [GRCh38]
Chr8:22054737 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1671G>A (p.Gly557=) single nucleotide variant not provided [RCV002577106] Chr8:22195493 [GRCh38]
Chr8:22053006 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.355C>T (p.Arg119Trp) single nucleotide variant not provided [RCV003062156] Chr8:22176235 [GRCh38]
Chr8:22033748 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2112G>A (p.Lys704=) single nucleotide variant not provided [RCV002937152] Chr8:22201807 [GRCh38]
Chr8:22059320 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2046C>T (p.Arg682=) single nucleotide variant not provided [RCV002962648] Chr8:22197359 [GRCh38]
Chr8:22054872 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2585G>C (p.Gly862Ala) single nucleotide variant not provided [RCV002645865] Chr8:22209454 [GRCh38]
Chr8:22066967 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.837-20del deletion not provided [RCV002645881] Chr8:22179685 [GRCh38]
Chr8:22037198 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1558A>G (p.Ser520Gly) single nucleotide variant not provided [RCV003010475] Chr8:22194838 [GRCh38]
Chr8:22052351 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2847G>T (p.Ser949=) single nucleotide variant not provided [RCV002770487] Chr8:22211614 [GRCh38]
Chr8:22069127 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2236G>A (p.Gly746Ser) single nucleotide variant not provided [RCV002628461] Chr8:22206856 [GRCh38]
Chr8:22064369 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1776C>T (p.Gly592=) single nucleotide variant not provided [RCV002599920] Chr8:22196690 [GRCh38]
Chr8:22054203 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2107+12C>G single nucleotide variant not provided [RCV002601755] Chr8:22197432 [GRCh38]
Chr8:22054945 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2014G>A (p.Glu672Lys) single nucleotide variant not provided [RCV002716397] Chr8:22197327 [GRCh38]
Chr8:22054840 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1766-4G>A single nucleotide variant BMP1-related condition [RCV003898860]|not provided [RCV002632301] Chr8:22196676 [GRCh38]
Chr8:22054189 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2352G>A (p.Arg784=) single nucleotide variant not provided [RCV002857681] Chr8:22206972 [GRCh38]
Chr8:22064485 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1121T>C (p.Leu374Pro) single nucleotide variant not provided [RCV002715327] Chr8:22192092 [GRCh38]
Chr8:22049605 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1167G>A (p.Lys389=) single nucleotide variant not provided [RCV002578457] Chr8:22192138 [GRCh38]
Chr8:22049651 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1222A>G (p.Thr408Ala) single nucleotide variant not provided [RCV002715409] Chr8:22194099 [GRCh38]
Chr8:22051612 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.564C>T (p.Tyr188=) single nucleotide variant not provided [RCV002633379] Chr8:22176973 [GRCh38]
Chr8:22034486 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1666C>T (p.Arg556Cys) single nucleotide variant not provided [RCV002583605] Chr8:22195488 [GRCh38]
Chr8:22053001 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1443+12G>A single nucleotide variant not provided [RCV002653454] Chr8:22194602 [GRCh38]
Chr8:22052115 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.801C>T (p.Asp267=) single nucleotide variant not provided [RCV002603823] Chr8:22177922 [GRCh38]
Chr8:22035435 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1206T>C (p.Pro402=) single nucleotide variant not provided [RCV002635054] Chr8:22194083 [GRCh38]
Chr8:22051596 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.126C>T (p.Asn42=) single nucleotide variant not provided [RCV002588683] Chr8:22165531 [GRCh38]
Chr8:22023044 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1395C>T (p.Ile465=) single nucleotide variant not provided [RCV002607575] Chr8:22194542 [GRCh38]
Chr8:22052055 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+9C>A single nucleotide variant not provided [RCV002587201] Chr8:22195596 [GRCh38]
Chr8:22053109 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.809T>C (p.Met270Thr) single nucleotide variant not provided [RCV002589092] Chr8:22177930 [GRCh38]
Chr8:22035443 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1926+16G>A single nucleotide variant not provided [RCV002584339] Chr8:22196856 [GRCh38]
Chr8:22054369 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.109G>A (p.Asp37Asn) single nucleotide variant not provided [RCV002586219] Chr8:22165514 [GRCh38]
Chr8:22023027 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2017G>A (p.Val673Ile) single nucleotide variant not provided [RCV003066261] Chr8:22197330 [GRCh38]
Chr8:22054843 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.148+21dup duplication not provided [RCV002590163] Chr8:22165568..22165569 [GRCh38]
Chr8:22023081..22023082 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.584del (p.Gly195fs) deletion Osteogenesis imperfecta [RCV003155840] Chr8:22176989 [GRCh38]
Chr8:22034502 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.1777G>A (p.Gly593Arg) single nucleotide variant Inborn genetic diseases [RCV003198765] Chr8:22196691 [GRCh38]
Chr8:22054204 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2		 likely pathogenic
NM_006129.5(BMP1):c.1390C>T (p.Arg464Trp) single nucleotide variant Inborn genetic diseases [RCV003202699] Chr8:22194537 [GRCh38]
Chr8:22052050 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1757G>A (p.Arg586His) single nucleotide variant not provided [RCV003730526]|not specified [RCV003324145] Chr8:22195579 [GRCh38]
Chr8:22053092 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2383G>C (p.Glu795Gln) single nucleotide variant Inborn genetic diseases [RCV003283520] Chr8:22207324 [GRCh38]
Chr8:22064837 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
NM_006129.5(BMP1):c.2507G>A (p.Arg836His) single nucleotide variant Inborn genetic diseases [RCV003381821] Chr8:22207448 [GRCh38]
Chr8:22064961 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1702G>A (p.Gly568Ser) single nucleotide variant Inborn genetic diseases [RCV003373914] Chr8:22195524 [GRCh38]
Chr8:22053037 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1756C>T (p.Arg586Cys) single nucleotide variant Inborn genetic diseases [RCV003370897] Chr8:22195578 [GRCh38]
Chr8:22053091 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2409C>G (p.Asp803Glu) single nucleotide variant Inborn genetic diseases [RCV003370120] Chr8:22207350 [GRCh38]
Chr8:22064863 [GRCh37]
Chr8:8p21.3		 uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
NM_006129.5(BMP1):c.551+7A>C single nucleotide variant not provided [RCV003569485] Chr8:22176657 [GRCh38]
Chr8:22034170 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-7C>A single nucleotide variant not provided [RCV003569716] Chr8:22194717 [GRCh38]
Chr8:22052230 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+1G>T single nucleotide variant not provided [RCV003571453] Chr8:22173716 [GRCh38]
Chr8:22031229 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.1728C>T (p.Pro576=) single nucleotide variant not provided [RCV003875100] Chr8:22195550 [GRCh38]
Chr8:22053063 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.153C>G (p.Ala51=) single nucleotide variant not provided [RCV003543499] Chr8:22173606 [GRCh38]
Chr8:22031119 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2160C>T (p.Phe720=) single nucleotide variant not provided [RCV003875407] Chr8:22201170 [GRCh38]
Chr8:22058683 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1181-16C>T single nucleotide variant not provided [RCV003543272] Chr8:22194042 [GRCh38]
Chr8:22051555 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1701G>A (p.Leu567=) single nucleotide variant not provided [RCV003571825] Chr8:22195523 [GRCh38]
Chr8:22053036 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1689C>T (p.Cys563=) single nucleotide variant not provided [RCV003686271] Chr8:22195511 [GRCh38]
Chr8:22053024 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1181-2A>G single nucleotide variant not provided [RCV003570338] Chr8:22194056 [GRCh38]
Chr8:22051569 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.2575+8C>A single nucleotide variant not provided [RCV003875206] Chr8:22207524 [GRCh38]
Chr8:22065037 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.486C>T (p.Thr162=) single nucleotide variant not provided [RCV003543604] Chr8:22176585 [GRCh38]
Chr8:22034098 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1998T>C (p.Cys666=) single nucleotide variant not provided [RCV003543061] Chr8:22197311 [GRCh38]
Chr8:22054824 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.798C>T (p.Phe266=) single nucleotide variant not provided [RCV003712680] Chr8:22177919 [GRCh38]
Chr8:22035432 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
NM_006129.5(BMP1):c.433+15G>A single nucleotide variant not provided [RCV003778360]|not specified [RCV003405077] Chr8:22176328 [GRCh38]
Chr8:22033841 [GRCh37]
Chr8:8p21.3		 likely benign
Single allele duplication not provided [RCV003448690] Chr8:20868762..22701502 [GRCh37]
Chr8:8p21.3		 uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_006129.5(BMP1):c.1171C>T (p.Pro391Ser) single nucleotide variant BMP1-related condition [RCV003405783] Chr8:22192142 [GRCh38]
Chr8:22049655 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1640-20C>A single nucleotide variant not provided [RCV003829024] Chr8:22195442 [GRCh38]
Chr8:22052955 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1833C>A (p.Tyr611Ter) single nucleotide variant not provided [RCV003831681] Chr8:22196747 [GRCh38]
Chr8:22054260 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2529A>T (p.Ser843=) single nucleotide variant not provided [RCV003659866] Chr8:22207470 [GRCh38]
Chr8:22064983 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1053C>T (p.Arg351=) single nucleotide variant not provided [RCV003696480] Chr8:22180459 [GRCh38]
Chr8:22037972 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2146C>G (p.His716Asp) single nucleotide variant not provided [RCV003826895] Chr8:22201156 [GRCh38]
Chr8:22058669 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.434-19G>C single nucleotide variant not provided [RCV003696487] Chr8:22176514 [GRCh38]
Chr8:22034027 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+9C>T single nucleotide variant not provided [RCV003831802] Chr8:22195596 [GRCh38]
Chr8:22053109 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1488C>T (p.Arg496=) single nucleotide variant not provided [RCV003739400] Chr8:22194768 [GRCh38]
Chr8:22052281 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1539G>A (p.Glu513=) single nucleotide variant not provided [RCV003687516] Chr8:22194819 [GRCh38]
Chr8:22052332 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1653C>T (p.Cys551=) single nucleotide variant not provided [RCV003546202] Chr8:22195475 [GRCh38]
Chr8:22052988 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.576C>T (p.Arg192=) single nucleotide variant not provided [RCV003575829] Chr8:22176985 [GRCh38]
Chr8:22034498 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.30G>A (p.Leu10=) single nucleotide variant not provided [RCV003696768] Chr8:22165435 [GRCh38]
Chr8:22022948 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.343A>C (p.Arg115=) single nucleotide variant not provided [RCV003545033] Chr8:22176223 [GRCh38]
Chr8:22033736 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+13C>A single nucleotide variant not provided [RCV003848875] Chr8:22209708 [GRCh38]
Chr8:22067221 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.540T>C (p.Tyr180=) single nucleotide variant not provided [RCV003831556] Chr8:22176639 [GRCh38]
Chr8:22034152 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.551+19G>C single nucleotide variant not provided [RCV003579449] Chr8:22176669 [GRCh38]
Chr8:22034182 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+17T>C single nucleotide variant not provided [RCV003689352] Chr8:22173732 [GRCh38]
Chr8:22031245 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1863G>T (p.Leu621=) single nucleotide variant not provided [RCV003830038] Chr8:22196777 [GRCh38]
Chr8:22054290 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2760C>T (p.Asp920=) single nucleotide variant not provided [RCV003695907] Chr8:22209629 [GRCh38]
Chr8:22067142 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1947G>A (p.Val649=) single nucleotide variant not provided [RCV003694072] Chr8:22197260 [GRCh38]
Chr8:22054773 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.609G>A (p.Lys203=) single nucleotide variant not provided [RCV003825016] Chr8:22177018 [GRCh38]
Chr8:22034531 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2007G>A (p.Glu669=) single nucleotide variant not provided [RCV003572143] Chr8:22197320 [GRCh38]
Chr8:22054833 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.442A>C (p.Arg148=) single nucleotide variant not provided [RCV003576669] Chr8:22176541 [GRCh38]
Chr8:22034054 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2362-11C>T single nucleotide variant not provided [RCV003829092] Chr8:22207292 [GRCh38]
Chr8:22064805 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.837-17T>G single nucleotide variant not provided [RCV003577560] Chr8:22179688 [GRCh38]
Chr8:22037201 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1019A>G (p.Asn340Ser) single nucleotide variant not provided [RCV003826578] Chr8:22180425 [GRCh38]
Chr8:22037938 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1349A>G (p.Asn450Ser) single nucleotide variant not provided [RCV003826579] Chr8:22194496 [GRCh38]
Chr8:22052009 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.434-17T>C single nucleotide variant not provided [RCV003828018] Chr8:22176516 [GRCh38]
Chr8:22034029 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2163A>G (p.Arg721=) single nucleotide variant not provided [RCV003576439] Chr8:22201173 [GRCh38]
Chr8:22058686 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-14G>A single nucleotide variant not provided [RCV003547613] Chr8:22194710 [GRCh38]
Chr8:22052223 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.351T>C (p.Arg117=) single nucleotide variant not provided [RCV003690812] Chr8:22176231 [GRCh38]
Chr8:22033744 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-9G>T single nucleotide variant not provided [RCV003544946] Chr8:22194715 [GRCh38]
Chr8:22052228 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.433+18G>T single nucleotide variant not provided [RCV003574480] Chr8:22176331 [GRCh38]
Chr8:22033844 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.263-9C>T single nucleotide variant not provided [RCV003713172] Chr8:22176134 [GRCh38]
Chr8:22033647 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-11C>T single nucleotide variant not provided [RCV003662162] Chr8:22201792 [GRCh38]
Chr8:22059305 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1152T>C (p.Asp384=) single nucleotide variant not provided [RCV003687077] Chr8:22192123 [GRCh38]
Chr8:22049636 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.423A>G (p.Gly141=) single nucleotide variant not provided [RCV003693963] Chr8:22176303 [GRCh38]
Chr8:22033816 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1356A>G (p.Pro452=) single nucleotide variant not provided [RCV003830674] Chr8:22194503 [GRCh38]
Chr8:22052016 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2358G>A (p.Lys786=) single nucleotide variant not provided [RCV003687132] Chr8:22206978 [GRCh38]
Chr8:22064491 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.915C>T (p.Leu305=) single nucleotide variant not provided [RCV003692172] Chr8:22179783 [GRCh38]
Chr8:22037296 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2211C>T (p.Asp737=) single nucleotide variant not provided [RCV003716059] Chr8:22201906 [GRCh38]
Chr8:22059419 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2169C>T (p.Gly723=) single nucleotide variant not provided [RCV003716501] Chr8:22201864 [GRCh38]
Chr8:22059377 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.96G>T (p.Leu32=) single nucleotide variant not provided [RCV003663519] Chr8:22165501 [GRCh38]
Chr8:22023014 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2361+8G>T single nucleotide variant not provided [RCV003572082] Chr8:22206989 [GRCh38]
Chr8:22064502 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2233+18G>C single nucleotide variant not provided [RCV003663451] Chr8:22201946 [GRCh38]
Chr8:22059459 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+1G>A single nucleotide variant not provided [RCV003712941] Chr8:22173716 [GRCh38]
Chr8:22031229 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.162G>A (p.Gly54=) single nucleotide variant not provided [RCV003695146] Chr8:22173615 [GRCh38]
Chr8:22031128 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.263-4T>C single nucleotide variant not provided [RCV003879397] Chr8:22176139 [GRCh38]
Chr8:22033652 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+11C>G single nucleotide variant not provided [RCV003830834] Chr8:22195598 [GRCh38]
Chr8:22053111 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.447A>T (p.Ala149=) single nucleotide variant not provided [RCV003690698] Chr8:22176546 [GRCh38]
Chr8:22034059 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+17C>A single nucleotide variant not provided [RCV003663574] Chr8:22165570 [GRCh38]
Chr8:22023083 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.434-7C>T single nucleotide variant not provided [RCV003739149] Chr8:22176526 [GRCh38]
Chr8:22034039 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2538G>A (p.Ser846=) single nucleotide variant not provided [RCV003825993] Chr8:22207479 [GRCh38]
Chr8:22064992 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+19G>T single nucleotide variant not provided [RCV003574140] Chr8:22209714 [GRCh38]
Chr8:22067227 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.393C>T (p.Pro131=) single nucleotide variant not provided [RCV003663588] Chr8:22176273 [GRCh38]
Chr8:22033786 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-7C>G single nucleotide variant not provided [RCV003690535] Chr8:22209438 [GRCh38]
Chr8:22066951 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.962-16T>C single nucleotide variant not provided [RCV003574205] Chr8:22180352 [GRCh38]
Chr8:22037865 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-9C>T single nucleotide variant not provided [RCV003572816] Chr8:22209436 [GRCh38]
Chr8:22066949 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+7G>A single nucleotide variant not provided [RCV003574136] Chr8:22192158 [GRCh38]
Chr8:22049671 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-9C>T single nucleotide variant not provided [RCV003693582] Chr8:22201794 [GRCh38]
Chr8:22059307 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.731-9T>C single nucleotide variant not provided [RCV003738860] Chr8:22177843 [GRCh38]
Chr8:22035356 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.331A>C (p.Arg111=) single nucleotide variant not provided [RCV003578710] Chr8:22176211 [GRCh38]
Chr8:22033724 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+13C>T single nucleotide variant not provided [RCV003829104] Chr8:22173728 [GRCh38]
Chr8:22031241 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-12G>C single nucleotide variant not provided [RCV003829554] Chr8:22201791 [GRCh38]
Chr8:22059304 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2586C>T (p.Gly862=) single nucleotide variant not provided [RCV003688270] Chr8:22209455 [GRCh38]
Chr8:22066968 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2361+10C>A single nucleotide variant not provided [RCV003661324] Chr8:22206991 [GRCh38]
Chr8:22064504 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1743C>T (p.Ala581=) single nucleotide variant not provided [RCV003689119] Chr8:22195565 [GRCh38]
Chr8:22053078 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2178G>A (p.Glu726=) single nucleotide variant not provided [RCV003830087] Chr8:22201873 [GRCh38]
Chr8:22059386 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.999C>T (p.Phe333=) single nucleotide variant not provided [RCV003830469] Chr8:22180405 [GRCh38]
Chr8:22037918 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.510T>C (p.Thr170=) single nucleotide variant not provided [RCV003739619] Chr8:22176609 [GRCh38]
Chr8:22034122 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.96G>A (p.Leu32=) single nucleotide variant not provided [RCV003547300] Chr8:22165501 [GRCh38]
Chr8:22023014 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2400T>C (p.Cys800=) single nucleotide variant not provided [RCV003577028] Chr8:22207341 [GRCh38]
Chr8:22064854 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2226C>T (p.Cys742=) single nucleotide variant not provided [RCV003878378] Chr8:22201921 [GRCh38]
Chr8:22059434 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-6C>T single nucleotide variant not provided [RCV003714789] Chr8:22201797 [GRCh38]
Chr8:22059310 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.501G>T (p.Leu167=) single nucleotide variant not provided [RCV003544450] Chr8:22176600 [GRCh38]
Chr8:22034113 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+21del deletion not provided [RCV003827222] Chr8:22165569 [GRCh38]
Chr8:22023082 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.2108-702T>C single nucleotide variant not provided [RCV003661473] Chr8:22201101 [GRCh38]
Chr8:22058614 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+14G>T single nucleotide variant not provided [RCV003828584] Chr8:22195601 [GRCh38]
Chr8:22053114 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.372C>T (p.Ser124=) single nucleotide variant not provided [RCV003716212] Chr8:22176252 [GRCh38]
Chr8:22033765 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2016G>A (p.Glu672=) single nucleotide variant not provided [RCV003663386] Chr8:22197329 [GRCh38]
Chr8:22054842 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.969A>C (p.Gly323=) single nucleotide variant not provided [RCV003687793] Chr8:22180375 [GRCh38]
Chr8:22037888 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.927C>T (p.Asp309=) single nucleotide variant not provided [RCV003692026] Chr8:22179795 [GRCh38]
Chr8:22037308 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2133C>T (p.Asn711=) single nucleotide variant not provided [RCV003573501] Chr8:22201828 [GRCh38]
Chr8:22059341 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.534C>T (p.Phe178=) single nucleotide variant not provided [RCV003661110] Chr8:22176633 [GRCh38]
Chr8:22034146 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.48C>A (p.Leu16=) single nucleotide variant not provided [RCV003714315] Chr8:22165453 [GRCh38]
Chr8:22022966 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-7C>T single nucleotide variant not provided [RCV003693507] Chr8:22209438 [GRCh38]
Chr8:22066951 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-10C>G single nucleotide variant not provided [RCV003661392] Chr8:22194714 [GRCh38]
Chr8:22052227 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.962-17A>G single nucleotide variant not provided [RCV003665182] Chr8:22180351 [GRCh38]
Chr8:22037864 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.489T>C (p.Cys163=) single nucleotide variant not provided [RCV003580456] Chr8:22176588 [GRCh38]
Chr8:22034101 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1392G>C (p.Arg464=) single nucleotide variant not provided [RCV003699745] Chr8:22194539 [GRCh38]
Chr8:22052052 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2562C>T (p.Ala854=) single nucleotide variant not provided [RCV003851463] Chr8:22207503 [GRCh38]
Chr8:22065016 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+18C>T single nucleotide variant not provided [RCV003849576] Chr8:22192169 [GRCh38]
Chr8:22049682 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1938C>A (p.Tyr646Ter) single nucleotide variant not provided [RCV003664615] Chr8:22197251 [GRCh38]
Chr8:22054764 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.962-7C>T single nucleotide variant not provided [RCV003697034] Chr8:22180361 [GRCh38]
Chr8:22037874 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1980G>A (p.Lys660=) single nucleotide variant not provided [RCV003849578] Chr8:22197293 [GRCh38]
Chr8:22054806 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.961+20G>T single nucleotide variant not provided [RCV003659132] Chr8:22179849 [GRCh38]
Chr8:22037362 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.151G>T (p.Ala51Ser) single nucleotide variant not provided [RCV003664748] Chr8:22173604 [GRCh38]
Chr8:22031117 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2778C>T (p.Asp926=) single nucleotide variant not provided [RCV003832384] Chr8:22209647 [GRCh38]
Chr8:22067160 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1809C>T (p.Thr603=) single nucleotide variant not provided [RCV003697265] Chr8:22196723 [GRCh38]
Chr8:22054236 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.492C>T (p.Val164=) single nucleotide variant not provided [RCV003548415] Chr8:22176591 [GRCh38]
Chr8:22034104 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1926+18G>T single nucleotide variant not provided [RCV003836311] Chr8:22196858 [GRCh38]
Chr8:22054371 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2145C>T (p.Pro715=) single nucleotide variant not provided [RCV003836323] Chr8:22201155 [GRCh38]
Chr8:22058668 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1953G>A (p.Val651=) single nucleotide variant not provided [RCV003665056] Chr8:22197266 [GRCh38]
Chr8:22054779 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.731-8C>G single nucleotide variant not provided [RCV003549777] Chr8:22177844 [GRCh38]
Chr8:22035357 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.433+18G>C single nucleotide variant not provided [RCV003816779] Chr8:22176331 [GRCh38]
Chr8:22033844 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2919C>T (p.Tyr973=) single nucleotide variant not provided [RCV003852239] Chr8:22211686 [GRCh38]
Chr8:22069199 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2430G>C (p.Gly810=) single nucleotide variant not provided [RCV003838074] Chr8:22207371 [GRCh38]
Chr8:22064884 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+12G>T single nucleotide variant not provided [RCV003850903] Chr8:22173727 [GRCh38]
Chr8:22031240 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1443+15C>T single nucleotide variant not provided [RCV003810774] Chr8:22194605 [GRCh38]
Chr8:22052118 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1683G>A (p.Gln561=) single nucleotide variant not provided [RCV003852432] Chr8:22195505 [GRCh38]
Chr8:22053018 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.433+10C>G single nucleotide variant not provided [RCV003549491] Chr8:22176323 [GRCh38]
Chr8:22033836 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2175T>C (p.Tyr725=) single nucleotide variant not provided [RCV003834982] Chr8:22201870 [GRCh38]
Chr8:22059383 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.120C>T (p.Pro40=) single nucleotide variant not provided [RCV003836923] Chr8:22165525 [GRCh38]
Chr8:22023038 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-17C>G single nucleotide variant not provided [RCV003548485] Chr8:22209428 [GRCh38]
Chr8:22066941 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1293C>T (p.Tyr431=) single nucleotide variant not provided [RCV003717050] Chr8:22194170 [GRCh38]
Chr8:22051683 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2107+14G>T single nucleotide variant not provided [RCV003669734] Chr8:22197434 [GRCh38]
Chr8:22054947 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2362-14C>T single nucleotide variant not provided [RCV003549146] Chr8:22207289 [GRCh38]
Chr8:22064802 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.114G>A (p.Ser38=) single nucleotide variant not provided [RCV003673745] Chr8:22165519 [GRCh38]
Chr8:22023032 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1734C>T (p.Tyr578=) single nucleotide variant not provided [RCV003726264] Chr8:22195556 [GRCh38]
Chr8:22053069 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.294G>A (p.Gln98=) single nucleotide variant not provided [RCV003670431] Chr8:22176174 [GRCh38]
Chr8:22033687 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-18T>C single nucleotide variant not provided [RCV003666089] Chr8:22194706 [GRCh38]
Chr8:22052219 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1059T>C (p.Ser353=) single nucleotide variant BMP1-related condition [RCV003901231]|not provided [RCV003674078] Chr8:22180465 [GRCh38]
Chr8:22037978 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.836+15T>G single nucleotide variant not provided [RCV003816392] Chr8:22177972 [GRCh38]
Chr8:22035485 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+18C>G single nucleotide variant not provided [RCV003549716] Chr8:22209713 [GRCh38]
Chr8:22067226 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1298-20C>G single nucleotide variant not provided [RCV003702551] Chr8:22194425 [GRCh38]
Chr8:22051938 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1101G>A (p.Leu367=) single nucleotide variant not provided [RCV003816846] Chr8:22192072 [GRCh38]
Chr8:22049585 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.730+17C>T single nucleotide variant not provided [RCV003834276] Chr8:22177156 [GRCh38]
Chr8:22034669 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2448C>T (p.Pro816=) single nucleotide variant not provided [RCV003817044] Chr8:22207389 [GRCh38]
Chr8:22064902 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.383_433+23del deletion not provided [RCV003561633] Chr8:22176262..22176335 [GRCh38]
Chr8:22033775..22033848 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.285C>A (p.Pro95=) single nucleotide variant not provided [RCV003856829] Chr8:22176165 [GRCh38]
Chr8:22033678 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.477G>A (p.Glu159=) single nucleotide variant not provided [RCV003726882] Chr8:22176576 [GRCh38]
Chr8:22034089 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.930T>C (p.Ile310=) single nucleotide variant not provided [RCV003717829] Chr8:22179798 [GRCh38]
Chr8:22037311 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2233+1G>C single nucleotide variant not provided [RCV003855089] Chr8:22201929 [GRCh38]
Chr8:22059442 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.537C>T (p.Thr179=) single nucleotide variant not provided [RCV003670081] Chr8:22176636 [GRCh38]
Chr8:22034149 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+18C>T single nucleotide variant not provided [RCV003835641] Chr8:22209713 [GRCh38]
Chr8:22067226 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.373C>A (p.Arg125=) single nucleotide variant not provided [RCV003671702] Chr8:22176253 [GRCh38]
Chr8:22033766 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+14C>T single nucleotide variant not provided [RCV003560387] Chr8:22209709 [GRCh38]
Chr8:22067222 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.777C>G (p.Ser259=) single nucleotide variant not provided [RCV003579768] Chr8:22177898 [GRCh38]
Chr8:22035411 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2541C>G (p.Val847=) single nucleotide variant not provided [RCV003703134] Chr8:22207482 [GRCh38]
Chr8:22064995 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2235C>T (p.Ala745=) single nucleotide variant not provided [RCV003726263] Chr8:22206855 [GRCh38]
Chr8:22064368 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-702TC[6] microsatellite not provided [RCV003670103] Chr8:22201100..22201101 [GRCh38]
Chr8:22058613..22058614 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.836+9C>G single nucleotide variant not provided [RCV003700192] Chr8:22177966 [GRCh38]
Chr8:22035479 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+13dup duplication not provided [RCV003703145] Chr8:22165560..22165561 [GRCh38]
Chr8:22023073..22023074 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.61C>A (p.Arg21=) single nucleotide variant not provided [RCV003725307] Chr8:22165466 [GRCh38]
Chr8:22022979 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+15C>A single nucleotide variant not provided [RCV003832179] Chr8:22209710 [GRCh38]
Chr8:22067223 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-18T>A single nucleotide variant not provided [RCV003837481] Chr8:22194706 [GRCh38]
Chr8:22052219 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.579C>T (p.Gly193=) single nucleotide variant BMP1-related condition [RCV003956511]|not provided [RCV003725298] Chr8:22176988 [GRCh38]
Chr8:22034501 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2346G>A (p.Gly782=) single nucleotide variant not provided [RCV003663857] Chr8:22206966 [GRCh38]
Chr8:22064479 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-16A>G single nucleotide variant not provided [RCV003671551] Chr8:22201787 [GRCh38]
Chr8:22059300 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+14G>A single nucleotide variant not provided [RCV003855726] Chr8:22165567 [GRCh38]
Chr8:22023080 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1470C>T (p.Tyr490=) single nucleotide variant not provided [RCV003812153] Chr8:22194750 [GRCh38]
Chr8:22052263 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2070C>T (p.Thr690=) single nucleotide variant not provided [RCV003559266] Chr8:22197383 [GRCh38]
Chr8:22054896 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.258T>C (p.Ala86=) single nucleotide variant not provided [RCV003560036] Chr8:22173711 [GRCh38]
Chr8:22031224 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2632C>T (p.Gln878Ter) single nucleotide variant not provided [RCV003666812] Chr8:22209501 [GRCh38]
Chr8:22067014 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2575+11C>T single nucleotide variant not provided [RCV003667855] Chr8:22207527 [GRCh38]
Chr8:22065040 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1518C>A (p.Ile506=) single nucleotide variant not provided [RCV003665147] Chr8:22194798 [GRCh38]
Chr8:22052311 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.657C>T (p.Val219=) single nucleotide variant not provided [RCV003669036] Chr8:22177066 [GRCh38]
Chr8:22034579 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2253G>A (p.Val751=) single nucleotide variant not provided [RCV003673697] Chr8:22206873 [GRCh38]
Chr8:22064386 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1005C>A (p.Ser335=) single nucleotide variant not provided [RCV003811855] Chr8:22180411 [GRCh38]
Chr8:22037924 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2361+18C>A single nucleotide variant not provided [RCV003580338] Chr8:22206999 [GRCh38]
Chr8:22064512 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2583G>A (p.Gly861=) single nucleotide variant not provided [RCV003667145] Chr8:22209452 [GRCh38]
Chr8:22066965 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2808G>A (p.Gly936=) single nucleotide variant not provided [RCV003700380] Chr8:22209677 [GRCh38]
Chr8:22067190 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2233+7G>A single nucleotide variant not provided [RCV003667989] Chr8:22201935 [GRCh38]
Chr8:22059448 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2127G>A (p.Lys709=) single nucleotide variant not provided [RCV003725050] Chr8:22201822 [GRCh38]
Chr8:22059335 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1527C>T (p.Tyr509=) single nucleotide variant not provided [RCV003548811] Chr8:22194807 [GRCh38]
Chr8:22052320 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-9G>C single nucleotide variant not provided [RCV003664246] Chr8:22194715 [GRCh38]
Chr8:22052228 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.36G>A (p.Gly12=) single nucleotide variant not provided [RCV003717863] Chr8:22165441 [GRCh38]
Chr8:22022954 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1935G>A (p.Lys645=) single nucleotide variant not provided [RCV003673998] Chr8:22197248 [GRCh38]
Chr8:22054761 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.149-11T>C single nucleotide variant not provided [RCV003836113] Chr8:22173591 [GRCh38]
Chr8:22031104 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1077+13T>C single nucleotide variant not provided [RCV003668178] Chr8:22180496 [GRCh38]
Chr8:22038009 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+13C>T single nucleotide variant not provided [RCV003668636] Chr8:22209708 [GRCh38]
Chr8:22067221 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2070C>A (p.Thr690=) single nucleotide variant not provided [RCV003716832] Chr8:22197383 [GRCh38]
Chr8:22054896 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2061C>T (p.Ser687=) single nucleotide variant not provided [RCV003726176] Chr8:22197374 [GRCh38]
Chr8:22054887 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+20C>G single nucleotide variant not provided [RCV003674008] Chr8:22192171 [GRCh38]
Chr8:22049684 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.774G>A (p.Glu258=) single nucleotide variant not provided [RCV003671281] Chr8:22177895 [GRCh38]
Chr8:22035408 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.263-11dup duplication not provided [RCV003838247] Chr8:22176130..22176131 [GRCh38]
Chr8:22033643..22033644 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-10C>T single nucleotide variant not provided [RCV003839830] Chr8:22194714 [GRCh38]
Chr8:22052227 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2575+11C>G single nucleotide variant not provided [RCV003670188] Chr8:22207527 [GRCh38]
Chr8:22065040 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2319C>T (p.Cys773=) single nucleotide variant not provided [RCV003671539] Chr8:22206939 [GRCh38]
Chr8:22064452 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1078-15C>T single nucleotide variant not provided [RCV003834785] Chr8:22192034 [GRCh38]
Chr8:22049547 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2187C>T (p.Pro729=) single nucleotide variant not provided [RCV003558334] Chr8:22201197 [GRCh38]
Chr8:22058710 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.894C>T (p.Pro298=) single nucleotide variant not provided [RCV003665868] Chr8:22179762 [GRCh38]
Chr8:22037275 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.348C>T (p.Ser116=) single nucleotide variant not provided [RCV003854838] Chr8:22176228 [GRCh38]
Chr8:22033741 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1476T>C (p.Tyr492=) single nucleotide variant not provided [RCV003664345] Chr8:22194756 [GRCh38]
Chr8:22052269 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2286C>T (p.Asn762=) single nucleotide variant not provided [RCV003836837] Chr8:22206906 [GRCh38]
Chr8:22064419 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2703C>T (p.Gly901=) single nucleotide variant not provided [RCV003816676] Chr8:22209572 [GRCh38]
Chr8:22067085 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+16C>T single nucleotide variant not provided [RCV003850299] Chr8:22165569 [GRCh38]
Chr8:22023082 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+8C>T single nucleotide variant not provided [RCV003671007] Chr8:22209703 [GRCh38]
Chr8:22067216 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+9G>T single nucleotide variant not provided [RCV003837168] Chr8:22173724 [GRCh38]
Chr8:22031237 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.303C>T (p.Asn101=) single nucleotide variant not provided [RCV003667636] Chr8:22176183 [GRCh38]
Chr8:22033696 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.177C>T (p.Asp59=) single nucleotide variant not provided [RCV003855139] Chr8:22173630 [GRCh38]
Chr8:22031143 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-693C>T single nucleotide variant not provided [RCV003833038] Chr8:22201110 [GRCh38]
Chr8:22058623 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.528T>C (p.Ile176=) single nucleotide variant not provided [RCV003548674] Chr8:22176627 [GRCh38]
Chr8:22034140 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-13C>A single nucleotide variant not provided [RCV003667244] Chr8:22194711 [GRCh38]
Chr8:22052224 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1390C>A (p.Arg464=) single nucleotide variant not provided [RCV003724728] Chr8:22194537 [GRCh38]
Chr8:22052050 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1311T>C (p.Gly437=) single nucleotide variant not provided [RCV003559619] Chr8:22194458 [GRCh38]
Chr8:22051971 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.78C>T (p.Ala26=) single nucleotide variant not provided [RCV003665252] Chr8:22165483 [GRCh38]
Chr8:22022996 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.21G>C (p.Leu7=) single nucleotide variant not provided [RCV003837196] Chr8:22165426 [GRCh38]
Chr8:22022939 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2271C>T (p.Thr757=) single nucleotide variant not provided [RCV003835604] Chr8:22206891 [GRCh38]
Chr8:22064404 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1078-12_1078-11del deletion not provided [RCV003701681] Chr8:22192037..22192038 [GRCh38]
Chr8:22049550..22049551 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.684A>C (p.Pro228=) single nucleotide variant not provided [RCV003833312] Chr8:22177093 [GRCh38]
Chr8:22034606 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2424C>T (p.Phe808=) single nucleotide variant not provided [RCV003717349] Chr8:22207365 [GRCh38]
Chr8:22064878 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1773T>C (p.Cys591=) single nucleotide variant not provided [RCV003699285] Chr8:22196687 [GRCh38]
Chr8:22054200 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1072del (p.Glu358fs) deletion not provided [RCV003699845] Chr8:22180475 [GRCh38]
Chr8:22037988 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.1512C>T (p.Thr504=) single nucleotide variant not provided [RCV003702149] Chr8:22194792 [GRCh38]
Chr8:22052305 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1839C>G (p.Pro613=) single nucleotide variant not provided [RCV003663871] Chr8:22196753 [GRCh38]
Chr8:22054266 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.369G>A (p.Thr123=) single nucleotide variant not provided [RCV003671816] Chr8:22176249 [GRCh38]
Chr8:22033762 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.891T>G (p.Pro297=) single nucleotide variant not provided [RCV003557756] Chr8:22179759 [GRCh38]
Chr8:22037272 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1965C>T (p.Leu655=) single nucleotide variant not provided [RCV003723921] Chr8:22197278 [GRCh38]
Chr8:22054791 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2199C>T (p.Phe733=) single nucleotide variant not provided [RCV003854965] Chr8:22201894 [GRCh38]
Chr8:22059407 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.180A>G (p.Glu60=) single nucleotide variant not provided [RCV003672884] Chr8:22173633 [GRCh38]
Chr8:22031146 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1078-13C>T single nucleotide variant not provided [RCV003672888] Chr8:22192036 [GRCh38]
Chr8:22049549 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2478G>A (p.Lys826=) single nucleotide variant not provided [RCV003833594] Chr8:22207419 [GRCh38]
Chr8:22064932 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1191C>T (p.Cys397=) single nucleotide variant not provided [RCV003666577] Chr8:22194068 [GRCh38]
Chr8:22051581 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.804C>T (p.Ser268=) single nucleotide variant not provided [RCV003701274] Chr8:22177925 [GRCh38]
Chr8:22035438 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2259C>T (p.Ser753=) single nucleotide variant not provided [RCV003832184] Chr8:22206879 [GRCh38]
Chr8:22064392 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.951C>T (p.Tyr317=) single nucleotide variant not provided [RCV003668918] Chr8:22179819 [GRCh38]
Chr8:22037332 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.174G>A (p.Leu58=) single nucleotide variant not provided [RCV003558160] Chr8:22173627 [GRCh38]
Chr8:22031140 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+2T>C single nucleotide variant not provided [RCV003566556] Chr8:22173717 [GRCh38]
Chr8:22031230 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.1180+11del deletion not provided [RCV003554226] Chr8:22192161 [GRCh38]
Chr8:22049674 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2234-11C>A single nucleotide variant not provided [RCV003711900] Chr8:22206843 [GRCh38]
Chr8:22064356 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.551+9G>A single nucleotide variant not provided [RCV003843269] Chr8:22176659 [GRCh38]
Chr8:22034172 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-16del deletion not provided [RCV003675272] Chr8:22209426 [GRCh38]
Chr8:22066939 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.434-8C>T single nucleotide variant not provided [RCV003711062] Chr8:22176525 [GRCh38]
Chr8:22034038 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2595G>A (p.Arg865=) single nucleotide variant not provided [RCV003678639] Chr8:22209464 [GRCh38]
Chr8:22066977 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.961+8C>T single nucleotide variant not provided [RCV003710347] Chr8:22179837 [GRCh38]
Chr8:22037350 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-9G>A single nucleotide variant not provided [RCV003853915] Chr8:22194715 [GRCh38]
Chr8:22052228 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2148G>A (p.Gln716=) single nucleotide variant not provided [RCV003857123] Chr8:22201843 [GRCh38]
Chr8:22059356 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1197C>T (p.Ser399=) single nucleotide variant not provided [RCV003675795] Chr8:22194074 [GRCh38]
Chr8:22051587 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2679C>T (p.Val893=) single nucleotide variant not provided [RCV003675890] Chr8:22209548 [GRCh38]
Chr8:22067061 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.207G>A (p.Gln69=) single nucleotide variant not provided [RCV003564973] Chr8:22173660 [GRCh38]
Chr8:22031173 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2130C>G (p.Pro710=) single nucleotide variant not provided [RCV003674927] Chr8:22201140 [GRCh38]
Chr8:22058653 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2110_2111del (p.Lys704fs) deletion not provided [RCV003860875] Chr8:22201118..22201119 [GRCh38]
Chr8:22058631..22058632 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.961+20G>A single nucleotide variant not provided [RCV003681093] Chr8:22179849 [GRCh38]
Chr8:22037362 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1120C>T (p.Leu374=) single nucleotide variant not provided [RCV003843580] Chr8:22192091 [GRCh38]
Chr8:22049604 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2162G>A (p.Arg721Gln) single nucleotide variant not provided [RCV003818706] Chr8:22201172 [GRCh38]
Chr8:22058685 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.551+20C>A single nucleotide variant not provided [RCV003824210] Chr8:22176670 [GRCh38]
Chr8:22034183 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.696C>T (p.Arg232=) single nucleotide variant not provided [RCV003705256] Chr8:22177105 [GRCh38]
Chr8:22034618 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1332C>A (p.Gly444=) single nucleotide variant not provided [RCV003565073] Chr8:22194479 [GRCh38]
Chr8:22051992 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.433+7G>A single nucleotide variant not provided [RCV003823071] Chr8:22176320 [GRCh38]
Chr8:22033833 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+10C>T single nucleotide variant not provided [RCV003565213] Chr8:22195597 [GRCh38]
Chr8:22053110 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.730+15C>T single nucleotide variant not provided [RCV003843058] Chr8:22177154 [GRCh38]
Chr8:22034667 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.675C>T (p.His225=) single nucleotide variant not provided [RCV003847759] Chr8:22177084 [GRCh38]
Chr8:22034597 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.837-17T>C single nucleotide variant not provided [RCV003682069] Chr8:22179688 [GRCh38]
Chr8:22037201 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-17G>T single nucleotide variant not provided [RCV003565208] Chr8:22194707 [GRCh38]
Chr8:22052220 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-704C>T single nucleotide variant not provided [RCV003679237] Chr8:22201099 [GRCh38]
Chr8:22058612 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-20G>A single nucleotide variant not provided [RCV003552396] Chr8:22209425 [GRCh38]
Chr8:22066938 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2576-11G>T single nucleotide variant not provided [RCV003676287] Chr8:22209434 [GRCh38]
Chr8:22066947 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1551C>T (p.Asp517=) single nucleotide variant not provided [RCV003707036] Chr8:22194831 [GRCh38]
Chr8:22052344 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1181-4G>A single nucleotide variant not provided [RCV003564753] Chr8:22194054 [GRCh38]
Chr8:22051567 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2463C>T (p.Phe821=) single nucleotide variant not provided [RCV003682036] Chr8:22207404 [GRCh38]
Chr8:22064917 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2187C>A (p.Pro729=) single nucleotide variant not provided [RCV003712025] Chr8:22201197 [GRCh38]
Chr8:22058710 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1841dup (p.Asn614fs) duplication not provided [RCV003565299] Chr8:22196753..22196754 [GRCh38]
Chr8:22054266..22054267 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.414C>G (p.Val138=) single nucleotide variant not provided [RCV003823398] Chr8:22176294 [GRCh38]
Chr8:22033807 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1803C>T (p.Ser601=) single nucleotide variant not provided [RCV003566501] Chr8:22196717 [GRCh38]
Chr8:22054230 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1344G>C (p.Ser448=) single nucleotide variant not provided [RCV003683124] Chr8:22194491 [GRCh38]
Chr8:22052004 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2234-10T>C single nucleotide variant not provided [RCV003565364] Chr8:22206844 [GRCh38]
Chr8:22064357 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2361+20C>A single nucleotide variant not provided [RCV003863263] Chr8:22207001 [GRCh38]
Chr8:22064514 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.414C>T (p.Val138=) single nucleotide variant not provided [RCV003704503] Chr8:22176294 [GRCh38]
Chr8:22033807 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.549C>T (p.Cys183=) single nucleotide variant not provided [RCV003550994] Chr8:22176648 [GRCh38]
Chr8:22034161 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1641G>A (p.Glu547=) single nucleotide variant not provided [RCV003565867] Chr8:22195463 [GRCh38]
Chr8:22052976 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1032T>C (p.Ala344=) single nucleotide variant not provided [RCV003681469] Chr8:22180438 [GRCh38]
Chr8:22037951 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.51G>T (p.Pro17=) single nucleotide variant not provided [RCV003564277] Chr8:22165456 [GRCh38]
Chr8:22022969 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-702TC[4] microsatellite not provided [RCV003856918] Chr8:22201101..22201102 [GRCh38]
Chr8:22058614..22058615 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.963C>T (p.Ala321=) single nucleotide variant not provided [RCV003820617] Chr8:22180369 [GRCh38]
Chr8:22037882 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2667C>T (p.Asp889=) single nucleotide variant not provided [RCV003860851] Chr8:22209536 [GRCh38]
Chr8:22067049 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2946C>T (p.Leu982=) single nucleotide variant not provided [RCV003552280] Chr8:22211713 [GRCh38]
Chr8:22069226 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.6C>G (p.Pro2=) single nucleotide variant not provided [RCV003682401] Chr8:22165411 [GRCh38]
Chr8:22022924 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.369G>T (p.Thr123=) single nucleotide variant not provided [RCV003857315] Chr8:22176249 [GRCh38]
Chr8:22033762 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2430G>A (p.Gly810=) single nucleotide variant not provided [RCV003676187] Chr8:22207371 [GRCh38]
Chr8:22064884 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1725C>T (p.Asp575=) single nucleotide variant not provided [RCV003565252] Chr8:22195547 [GRCh38]
Chr8:22053060 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-699C>T single nucleotide variant not provided [RCV003683209] Chr8:22201104 [GRCh38]
Chr8:22058617 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2233+1G>T single nucleotide variant not provided [RCV003563148] Chr8:22201929 [GRCh38]
Chr8:22059442 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.2362-10A>G single nucleotide variant not provided [RCV003553859] Chr8:22207293 [GRCh38]
Chr8:22064806 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.837-12C>T single nucleotide variant not provided [RCV003568376] Chr8:22179693 [GRCh38]
Chr8:22037206 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2362-4C>G single nucleotide variant not provided [RCV003563424] Chr8:22207299 [GRCh38]
Chr8:22064812 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1644G>A (p.Val548=) single nucleotide variant not provided [RCV003566253] Chr8:22195466 [GRCh38]
Chr8:22052979 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1698C>T (p.Thr566=) single nucleotide variant not provided [RCV003858738] Chr8:22195520 [GRCh38]
Chr8:22053033 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.510T>A (p.Thr170=) single nucleotide variant not provided [RCV003550923] Chr8:22176609 [GRCh38]
Chr8:22034122 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1230C>T (p.Ser410=) single nucleotide variant not provided [RCV003733431] Chr8:22194107 [GRCh38]
Chr8:22051620 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.263-14A>G single nucleotide variant not provided [RCV003710113] Chr8:22176129 [GRCh38]
Chr8:22033642 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.462C>A (p.Ala154=) single nucleotide variant not provided [RCV003678311] Chr8:22176561 [GRCh38]
Chr8:22034074 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2701G>A (p.Gly901Ser) single nucleotide variant not provided [RCV003861282] Chr8:22209570 [GRCh38]
Chr8:22067083 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.2601C>T (p.Asp867=) single nucleotide variant not provided [RCV003842647] Chr8:22209470 [GRCh38]
Chr8:22066983 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.263-17A>G single nucleotide variant not provided [RCV003567328] Chr8:22176126 [GRCh38]
Chr8:22033639 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.303C>G (p.Asn101Lys) single nucleotide variant not provided [RCV003568658] Chr8:22176183 [GRCh38]
Chr8:22033696 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.945G>A (p.Lys315=) single nucleotide variant not provided [RCV003820735] Chr8:22179813 [GRCh38]
Chr8:22037326 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.708C>T (p.Ile236=) single nucleotide variant not provided [RCV003840623] Chr8:22177117 [GRCh38]
Chr8:22034630 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+8C>T single nucleotide variant not provided [RCV003670609] Chr8:22195595 [GRCh38]
Chr8:22053108 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.681G>A (p.Arg227=) single nucleotide variant not provided [RCV003859587] Chr8:22177090 [GRCh38]
Chr8:22034603 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1425C>T (p.Leu475=) single nucleotide variant not provided [RCV003853009] Chr8:22194572 [GRCh38]
Chr8:22052085 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1947G>T (p.Val649=) single nucleotide variant not provided [RCV003868868] Chr8:22197260 [GRCh38]
Chr8:22054773 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1639+7C>G single nucleotide variant not provided [RCV003557632] Chr8:22194926 [GRCh38]
Chr8:22052439 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1440T>C (p.Phe480=) single nucleotide variant not provided [RCV003845163] Chr8:22194587 [GRCh38]
Chr8:22052100 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1722T>C (p.Cys574=) single nucleotide variant not provided [RCV003853442] Chr8:22195544 [GRCh38]
Chr8:22053057 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.837-11C>G single nucleotide variant not provided [RCV003845250] Chr8:22179694 [GRCh38]
Chr8:22037207 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.78C>G (p.Ala26=) single nucleotide variant not provided [RCV003684534] Chr8:22165483 [GRCh38]
Chr8:22022996 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2343C>T (p.Pro781=) single nucleotide variant not provided [RCV003722701] Chr8:22206963 [GRCh38]
Chr8:22064476 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_006129.5(BMP1):c.1131C>T (p.Tyr377=) single nucleotide variant not provided [RCV003818529] Chr8:22192102 [GRCh38]
Chr8:22049615 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2234-2A>G single nucleotide variant not provided [RCV003550657] Chr8:22206852 [GRCh38]
Chr8:22064365 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.1797C>T (p.Asn599=) single nucleotide variant not provided [RCV003735803] Chr8:22196711 [GRCh38]
Chr8:22054224 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1407G>A (p.Glu469=) single nucleotide variant not provided [RCV003871389] Chr8:22194554 [GRCh38]
Chr8:22052067 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1833C>T (p.Tyr611=) single nucleotide variant not provided [RCV003864138] Chr8:22196747 [GRCh38]
Chr8:22054260 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.879C>A (p.Asn293Lys) single nucleotide variant not provided [RCV003866130] Chr8:22179747 [GRCh38]
Chr8:22037260 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1077+14C>G single nucleotide variant not provided [RCV003843853] Chr8:22180497 [GRCh38]
Chr8:22038010 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.639C>T (p.His213=) single nucleotide variant not provided [RCV003733993] Chr8:22177048 [GRCh38]
Chr8:22034561 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.549C>A (p.Cys183Ter) single nucleotide variant not provided [RCV003868156] Chr8:22176648 [GRCh38]
Chr8:22034161 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.466A>C (p.Arg156=) single nucleotide variant not provided [RCV003728855] Chr8:22176565 [GRCh38]
Chr8:22034078 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.552-4C>G single nucleotide variant not provided [RCV003720201] Chr8:22176957 [GRCh38]
Chr8:22034470 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2217G>A (p.Lys739=) single nucleotide variant not provided [RCV003721484] Chr8:22201912 [GRCh38]
Chr8:22059425 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
NM_006129.5(BMP1):c.2391G>A (p.Gln797=) single nucleotide variant not provided [RCV003556715] Chr8:22207332 [GRCh38]
Chr8:22064845 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2575+9C>T single nucleotide variant not provided [RCV003683399] Chr8:22207525 [GRCh38]
Chr8:22065038 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2135G>A (p.Arg712Gln) single nucleotide variant not provided [RCV003720211] Chr8:22201145 [GRCh38]
Chr8:22058658 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-20G>A single nucleotide variant not provided [RCV003864587] Chr8:22194704 [GRCh38]
Chr8:22052217 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2184C>A (p.Thr728=) single nucleotide variant not provided [RCV003681594] Chr8:22201194 [GRCh38]
Chr8:22058707 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.730+10T>C single nucleotide variant BMP1-related condition [RCV003929301]|not provided [RCV003719747] Chr8:22177149 [GRCh38]
Chr8:22034662 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2571C>T (p.Ala857=) single nucleotide variant not provided [RCV003684692] Chr8:22207512 [GRCh38]
Chr8:22065025 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1180+19C>T single nucleotide variant not provided [RCV003818942] Chr8:22192170 [GRCh38]
Chr8:22049683 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.837-9C>T single nucleotide variant not provided [RCV003705864] Chr8:22179696 [GRCh38]
Chr8:22037209 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2382C>T (p.Ile794=) single nucleotide variant not provided [RCV003864756] Chr8:22207323 [GRCh38]
Chr8:22064836 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.591G>A (p.Gln197=) single nucleotide variant not provided [RCV003737961] Chr8:22177000 [GRCh38]
Chr8:22034513 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2538G>C (p.Ser846=) single nucleotide variant not provided [RCV003730718] Chr8:22207479 [GRCh38]
Chr8:22064992 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.369G>C (p.Thr123=) single nucleotide variant not provided [RCV003567603] Chr8:22176249 [GRCh38]
Chr8:22033762 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2545C>T (p.Arg849Ter) single nucleotide variant not provided [RCV003842985] Chr8:22207486 [GRCh38]
Chr8:22064999 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2724C>A (p.Thr908=) single nucleotide variant not provided [RCV003681964] Chr8:22209593 [GRCh38]
Chr8:22067106 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+11C>A single nucleotide variant not provided [RCV003718764] Chr8:22209706 [GRCh38]
Chr8:22067219 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.885G>A (p.Val295=) single nucleotide variant not provided [RCV003820359] Chr8:22179753 [GRCh38]
Chr8:22037266 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2178C>T (p.Asn726=) single nucleotide variant not provided [RCV003705874] Chr8:22201188 [GRCh38]
Chr8:22058701 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2784C>T (p.Tyr928=) single nucleotide variant not provided [RCV003732410] Chr8:22209653 [GRCh38]
Chr8:22067166 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-15A>T single nucleotide variant not provided [RCV003557126] Chr8:22194709 [GRCh38]
Chr8:22052222 [GRCh37]
Chr8:8p21.3		 likely benign
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
NM_006129.5(BMP1):c.2925C>T (p.Ser975=) single nucleotide variant not provided [RCV003704814] Chr8:22211692 [GRCh38]
Chr8:22069205 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2691G>A (p.Glu897=) single nucleotide variant not provided [RCV003859447] Chr8:22209560 [GRCh38]
Chr8:22067073 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2118A>G (p.Pro706=) single nucleotide variant not provided [RCV003822163] Chr8:22201128 [GRCh38]
Chr8:22058641 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.262+20G>T single nucleotide variant not provided [RCV003567953] Chr8:22173735 [GRCh38]
Chr8:22031248 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1518C>T (p.Ile506=) single nucleotide variant not provided [RCV003680186] Chr8:22194798 [GRCh38]
Chr8:22052311 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2037C>T (p.Asn679=) single nucleotide variant not provided [RCV003719114] Chr8:22197350 [GRCh38]
Chr8:22054863 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.513C>T (p.Asp171=) single nucleotide variant not provided [RCV003722558] Chr8:22176612 [GRCh38]
Chr8:22034125 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.378A>G (p.Pro126=) single nucleotide variant not provided [RCV003726962] Chr8:22176258 [GRCh38]
Chr8:22033771 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003841659] Chr8:22165406 [GRCh38]
Chr8:22022919 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_001199.4(BMP1):c.2165T>C (p.Val722Ala) single nucleotide variant not provided [RCV003675579] Chr8:22201175 [GRCh38]
Chr8:22058688 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2188dup (p.Gln730fs) duplication not provided [RCV003557386] Chr8:22201192..22201193 [GRCh38]
Chr8:22058705..22058706 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2682T>C (p.Ile894=) single nucleotide variant not provided [RCV003722648] Chr8:22209551 [GRCh38]
Chr8:22067064 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2880G>C (p.Ser960=) single nucleotide variant not provided [RCV003863285] Chr8:22211647 [GRCh38]
Chr8:22069160 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.36G>T (p.Gly12=) single nucleotide variant not provided [RCV003868501] Chr8:22165441 [GRCh38]
Chr8:22022954 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2328C>A (p.Ala776=) single nucleotide variant not provided [RCV003869515] Chr8:22206948 [GRCh38]
Chr8:22064461 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.840C>T (p.Gly280=) single nucleotide variant not provided [RCV003555837] Chr8:22179708 [GRCh38]
Chr8:22037221 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.820C>A (p.Arg274=) single nucleotide variant not provided [RCV003682613] Chr8:22177941 [GRCh38]
Chr8:22035454 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2025C>T (p.Thr675=) single nucleotide variant not provided [RCV003723073] Chr8:22197338 [GRCh38]
Chr8:22054851 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.433+7G>C single nucleotide variant not provided [RCV003847323] Chr8:22176320 [GRCh38]
Chr8:22033833 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1692C>T (p.Leu564=) single nucleotide variant not provided [RCV003853282] Chr8:22195514 [GRCh38]
Chr8:22053027 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.60C>A (p.Gly20=) single nucleotide variant not provided [RCV003853299] Chr8:22165465 [GRCh38]
Chr8:22022978 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1279_1297+3del deletion not provided [RCV003728667] Chr8:22194156..22194177 [GRCh38]
Chr8:22051669..22051690 [GRCh37]
Chr8:8p21.3		 likely pathogenic
NM_006129.5(BMP1):c.1848C>T (p.Asn616=) single nucleotide variant not provided [RCV003712247] Chr8:22196762 [GRCh38]
Chr8:22054275 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2943A>G (p.Thr981=) single nucleotide variant not provided [RCV003704364] Chr8:22211710 [GRCh38]
Chr8:22069223 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2415A>G (p.Leu805=) single nucleotide variant not provided [RCV003706834] Chr8:22207356 [GRCh38]
Chr8:22064869 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1298-20C>A single nucleotide variant not provided [RCV003712513] Chr8:22194425 [GRCh38]
Chr8:22051938 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1668C>T (p.Arg556=) single nucleotide variant BMP1-related condition [RCV003956497]|not provided [RCV003722248] Chr8:22195490 [GRCh38]
Chr8:22053003 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1314T>C (p.Asp438=) single nucleotide variant not provided [RCV003857408] Chr8:22194461 [GRCh38]
Chr8:22051974 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1449G>A (p.Glu483=) single nucleotide variant not provided [RCV003705751] Chr8:22194729 [GRCh38]
Chr8:22052242 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2445C>A (p.Ala815=) single nucleotide variant not provided [RCV003860448] Chr8:22207386 [GRCh38]
Chr8:22064899 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2575+11C>A single nucleotide variant not provided [RCV003862302] Chr8:22207527 [GRCh38]
Chr8:22065040 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.962-5C>T single nucleotide variant not provided [RCV003681574] Chr8:22180363 [GRCh38]
Chr8:22037876 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1410C>G (p.Gly470=) single nucleotide variant not provided [RCV003684616] Chr8:22194557 [GRCh38]
Chr8:22052070 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+16C>A single nucleotide variant not provided [RCV003675185] Chr8:22165569 [GRCh38]
Chr8:22023082 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2904T>G (p.Gly968=) single nucleotide variant not provided [RCV003675224] Chr8:22211671 [GRCh38]
Chr8:22069184 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2175A>G (p.Arg725=) single nucleotide variant not provided [RCV003861817] Chr8:22201185 [GRCh38]
Chr8:22058698 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2826+19G>A single nucleotide variant not provided [RCV003823098] Chr8:22209714 [GRCh38]
Chr8:22067227 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1444-13C>G single nucleotide variant not provided [RCV003681981] Chr8:22194711 [GRCh38]
Chr8:22052224 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1014C>T (p.Tyr338=) single nucleotide variant not provided [RCV003683551] Chr8:22180420 [GRCh38]
Chr8:22037933 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1977C>T (p.Ser659=) single nucleotide variant not provided [RCV003847166] Chr8:22197290 [GRCh38]
Chr8:22054803 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1257C>T (p.Ser419=) single nucleotide variant not provided [RCV003863527] Chr8:22194134 [GRCh38]
Chr8:22051647 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1836C>G (p.Pro612=) single nucleotide variant not provided [RCV003679334] Chr8:22196750 [GRCh38]
Chr8:22054263 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2568C>T (p.His856=) single nucleotide variant not provided [RCV003853153] Chr8:22207509 [GRCh38]
Chr8:22065022 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.730+18G>C single nucleotide variant not provided [RCV003676917] Chr8:22177157 [GRCh38]
Chr8:22034670 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1752G>A (p.Lys584=) single nucleotide variant not provided [RCV003707610] Chr8:22195574 [GRCh38]
Chr8:22053087 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1749C>T (p.Asp583=) single nucleotide variant not provided [RCV003847728] Chr8:22195571 [GRCh38]
Chr8:22053084 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1765+19C>A single nucleotide variant not provided [RCV003564553] Chr8:22195606 [GRCh38]
Chr8:22053119 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1911G>A (p.Glu637=) single nucleotide variant not provided [RCV003707742] Chr8:22196825 [GRCh38]
Chr8:22054338 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+13C>T single nucleotide variant not provided [RCV003823687] Chr8:22165566 [GRCh38]
Chr8:22023079 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1596C>T (p.Asp532=) single nucleotide variant not provided [RCV003551143] Chr8:22194876 [GRCh38]
Chr8:22052389 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1359C>T (p.Asp453=) single nucleotide variant not provided [RCV003732497] Chr8:22194506 [GRCh38]
Chr8:22052019 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1455C>T (p.His485=) single nucleotide variant not provided [RCV003844357] Chr8:22194735 [GRCh38]
Chr8:22052248 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2234-13C>T single nucleotide variant not provided [RCV003818364] Chr8:22206841 [GRCh38]
Chr8:22064354 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1298-8C>T single nucleotide variant not provided [RCV003819370] Chr8:22194437 [GRCh38]
Chr8:22051950 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2580C>T (p.Cys860=) single nucleotide variant not provided [RCV003732714] Chr8:22209449 [GRCh38]
Chr8:22066962 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.633G>A (p.Val211=) single nucleotide variant not provided [RCV003675920] Chr8:22177042 [GRCh38]
Chr8:22034555 [GRCh37]
Chr8:8p21.3		 likely benign
NC_000008.11:g.22180369_22180385del deletion not provided [RCV003705058] Chr8:22180367..22180383 [GRCh38]
Chr8:22037880..22037896 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2575+19G>T single nucleotide variant not provided [RCV003859708] Chr8:22207535 [GRCh38]
Chr8:22065048 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.651C>T (p.His217=) single nucleotide variant not provided [RCV003848104] Chr8:22177060 [GRCh38]
Chr8:22034573 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1077+17C>G single nucleotide variant not provided [RCV003858595] Chr8:22180500 [GRCh38]
Chr8:22038013 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1104C>T (p.Asp368=) single nucleotide variant not provided [RCV003822305] Chr8:22192075 [GRCh38]
Chr8:22049588 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1509C>T (p.Ser503=) single nucleotide variant not provided [RCV003727249] Chr8:22194789 [GRCh38]
Chr8:22052302 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.1215C>T (p.Ile405=) single nucleotide variant not provided [RCV003710864] Chr8:22194092 [GRCh38]
Chr8:22051605 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2013C>G (p.Pro671=) single nucleotide variant not provided [RCV003704210] Chr8:22197326 [GRCh38]
Chr8:22054839 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2514C>T (p.Phe838=) single nucleotide variant not provided [RCV003858452] Chr8:22207455 [GRCh38]
Chr8:22064968 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1077+4C>A single nucleotide variant not provided [RCV003731002] Chr8:22180487 [GRCh38]
Chr8:22038000 [GRCh37]
Chr8:8p21.3		 uncertain significance
NM_006129.5(BMP1):c.1917G>A (p.Glu639=) single nucleotide variant not provided [RCV003844978] Chr8:22196831 [GRCh38]
Chr8:22054344 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.148+13del deletion not provided [RCV003857418] Chr8:22165561 [GRCh38]
Chr8:22023074 [GRCh37]
Chr8:8p21.3		 benign
NM_006129.5(BMP1):c.836+10G>A single nucleotide variant not provided [RCV003860053] Chr8:22177967 [GRCh38]
Chr8:22035480 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1647C>T (p.Asp549=) single nucleotide variant not provided [RCV003866396] Chr8:22195469 [GRCh38]
Chr8:22052982 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.388_389dup (p.Trp130fs) microsatellite not provided [RCV003683234] Chr8:22176262..22176263 [GRCh38]
Chr8:22033775..22033776 [GRCh37]
Chr8:8p21.3		 pathogenic
NM_006129.5(BMP1):c.2268T>C (p.Gly756=) single nucleotide variant not provided [RCV003731838] Chr8:22206888 [GRCh38]
Chr8:22064401 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.771G>A (p.Val257=) single nucleotide variant not provided [RCV003844925] Chr8:22177892 [GRCh38]
Chr8:22035405 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.882G>A (p.Gly294=) single nucleotide variant not provided [RCV003731377] Chr8:22179750 [GRCh38]
Chr8:22037263 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1047G>T (p.Val349=) single nucleotide variant not provided [RCV003821362] Chr8:22180453 [GRCh38]
Chr8:22037966 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2911C>T (p.Leu971=) single nucleotide variant BMP1-related condition [RCV003966586]|not provided [RCV003709690] Chr8:22211678 [GRCh38]
Chr8:22069191 [GRCh37]
Chr8:8p21.3		 likely benign
NM_001199.4(BMP1):c.2123T>G (p.Leu708Arg) single nucleotide variant not provided [RCV003866513] Chr8:22201133 [GRCh38]
Chr8:22058646 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1639+12G>C single nucleotide variant not provided [RCV003708851] Chr8:22194931 [GRCh38]
Chr8:22052444 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1704C>T (p.Gly568=) single nucleotide variant not provided [RCV003704444] Chr8:22195526 [GRCh38]
Chr8:22053039 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.1927-4G>A single nucleotide variant not provided [RCV003705761] Chr8:22197236 [GRCh38]
Chr8:22054749 [GRCh37]
Chr8:8p21.3		 likely benign
NM_006129.5(BMP1):c.2108-593C>G single nucleotide variant BMP1-related condition [RCV003951692] Chr8:22201210 [GRCh38]
Chr8:22058723 [GRCh37]
Chr8:8p21.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11287
Count of miRNA genes:1215
Interacting mature miRNAs:1568
Transcripts:ENST00000306349, ENST00000306385, ENST00000354870, ENST00000397814, ENST00000397816, ENST00000471755, ENST00000483364, ENST00000517324, ENST00000518656, ENST00000518913, ENST00000520626, ENST00000520970, ENST00000520982, ENST00000521385, ENST00000521521, ENST00000522332, ENST00000523457, ENST00000523749, ENST00000523849
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
A005O36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,069,562 - 22,069,834UniSTSGRCh37
Build 36822,125,507 - 22,125,779RGDNCBI36
Celera821,032,265 - 21,032,537RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,611,754 - 20,612,026UniSTS
GeneMap99-GB4 RH Map889.42UniSTS
NCBI RH Map8265.7UniSTS
D14S1296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,069,612 - 22,069,759UniSTSGRCh37
Build 36822,125,557 - 22,125,704RGDNCBI36
Celera821,032,315 - 21,032,462RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,611,804 - 20,611,951UniSTS
G62003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,821 - 22,021,976UniSTSGRCh37
Build 36822,077,766 - 22,077,921RGDNCBI36
Celera820,983,805 - 20,983,960RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,564,125 - 20,564,280UniSTS
GDB:215516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,023,368 - 22,023,504UniSTSGRCh37
Build 36822,079,313 - 22,079,449RGDNCBI36
Celera820,985,372 - 20,985,518RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,565,682 - 20,565,826UniSTS
RH78932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,058,805 - 22,058,928UniSTSGRCh37
Build 36822,114,750 - 22,114,873RGDNCBI36
Celera821,021,289 - 21,021,412RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,601,139 - 20,601,262UniSTS
GeneMap99-GB4 RH Map889.12UniSTS
NCBI RH Map8265.7UniSTS
SHGC-156059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,054,845 - 22,055,132UniSTSGRCh37
Build 36822,110,790 - 22,111,077RGDNCBI36
Celera821,017,328 - 21,017,615RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,597,178 - 20,597,465UniSTS
TNG Radiation Hybrid Map811703.0UniSTS
SFTPC  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,824 - 22,021,977UniSTSGRCh37
Build 36822,077,769 - 22,077,922RGDNCBI36
Celera820,983,808 - 20,983,961RGD
HuRef820,564,128 - 20,564,281UniSTS
RH78298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,020,975 - 22,021,449UniSTSGRCh37
Build 36822,076,920 - 22,077,394RGDNCBI36
Celera820,982,959 - 20,983,433RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,563,279 - 20,563,753UniSTS
GeneMap99-GB4 RH Map889.32UniSTS
NCBI RH Map8265.7UniSTS
WIAF-1622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,428 - 22,021,564UniSTSGRCh37
Build 36822,077,373 - 22,077,509RGDNCBI36
Celera820,983,412 - 20,983,548RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,563,732 - 20,563,868UniSTS
GeneMap99-GB4 RH Map889.22UniSTS
NCBI RH Map8278.4UniSTS
RH66510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,021,529 - 22,021,976UniSTSGRCh37
Build 36822,077,474 - 22,077,921RGDNCBI36
Celera820,983,513 - 20,983,960RGD
Cytogenetic Map8p21UniSTS
Cytogenetic Map8p21.3UniSTS
HuRef820,563,833 - 20,564,280UniSTS
GeneMap99-GB4 RH Map891.06UniSTS
NCBI RH Map8277.5UniSTS
SGC35299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37822,058,748 - 22,058,967UniSTSGRCh37
Build 36822,114,693 - 22,114,912RGDNCBI36
Celera821,021,232 - 21,021,451RGD
Cytogenetic Map8p21.3UniSTS
HuRef820,601,082 - 20,601,301UniSTS
GeneMap99-GB4 RH Map889.22UniSTS
Whitehead-RH Map897.2UniSTS
NCBI RH Map8272.2UniSTS
D1S3693  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p15.3-p15.2UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q32.3-q41UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q12UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2150 1671 1510 444 472 335 3461 1172 1449 257 1200 1496 123 1204 2090 4
Low 288 1223 214 179 1188 130 895 1023 2269 162 260 113 51 1 698 2 1
Below cutoff 95 2 289 2 14 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE619065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU627735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA720194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA864391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR004420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L35278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L35279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306349   ⟹   ENSP00000306121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,372 - 22,201,482 (+)Ensembl
RefSeq Acc Id: ENST00000306385   ⟹   ENSP00000305714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,372 - 22,212,326 (+)Ensembl
RefSeq Acc Id: ENST00000354870   ⟹   ENSP00000346941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,140 - 22,212,324 (+)Ensembl
RefSeq Acc Id: ENST00000397814   ⟹   ENSP00000380915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,140 - 22,176,942 (+)Ensembl
RefSeq Acc Id: ENST00000471755   ⟹   ENSP00000428665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,400 - 22,201,200 (+)Ensembl
RefSeq Acc Id: ENST00000483364   ⟹   ENSP00000428249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,400 - 22,201,200 (+)Ensembl
RefSeq Acc Id: ENST00000517324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,194,215 - 22,195,587 (+)Ensembl
RefSeq Acc Id: ENST00000518656   ⟹   ENSP00000430977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,335 - 22,177,906 (+)Ensembl
RefSeq Acc Id: ENST00000518913   ⟹   ENSP00000427950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,252 - 22,201,482 (+)Ensembl
RefSeq Acc Id: ENST00000520626   ⟹   ENSP00000430015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,324 - 22,212,314 (+)Ensembl
RefSeq Acc Id: ENST00000520970   ⟹   ENSP00000428332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,187 - 22,212,324 (+)Ensembl
RefSeq Acc Id: ENST00000520982   ⟹   ENSP00000428798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,324 - 22,211,892 (+)Ensembl
RefSeq Acc Id: ENST00000521385   ⟹   ENSP00000430406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,165,400 - 22,201,200 (+)Ensembl
RefSeq Acc Id: ENST00000521521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,170,159 - 22,176,596 (+)Ensembl
RefSeq Acc Id: ENST00000522332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,198,416 - 22,201,482 (+)Ensembl
RefSeq Acc Id: ENST00000523457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,179,697 - 22,192,334 (+)Ensembl
RefSeq Acc Id: ENST00000523749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,192,090 - 22,194,506 (+)Ensembl
RefSeq Acc Id: ENST00000523849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl822,170,697 - 22,176,998 (+)Ensembl
RefSeq Acc Id: NM_001199   ⟹   NP_001190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,165,372 - 22,201,482 (+)NCBI
GRCh37822,022,653 - 22,069,839 (+)ENTREZGENE
Build 36822,078,835 - 22,114,926 (+)NCBI Archive
HuRef820,564,967 - 20,612,031 (+)ENTREZGENE
CHM1_1822,224,312 - 22,260,657 (+)NCBI
T2T-CHM13v2.0822,439,316 - 22,475,436 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006129   ⟹   NP_006120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,165,372 - 22,212,326 (+)NCBI
GRCh37822,022,653 - 22,069,839 (+)ENTREZGENE
Build 36822,078,864 - 22,125,782 (+)NCBI Archive
HuRef820,564,967 - 20,612,031 (+)ENTREZGENE
CHM1_1822,224,312 - 22,271,500 (+)NCBI
T2T-CHM13v2.0822,439,316 - 22,486,280 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033403
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,165,372 - 22,212,326 (+)NCBI
GRCh37822,022,653 - 22,069,839 (+)ENTREZGENE
HuRef820,564,967 - 20,612,031 (+)ENTREZGENE
CHM1_1822,224,312 - 22,271,500 (+)NCBI
T2T-CHM13v2.0822,439,316 - 22,486,280 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033404
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,165,372 - 22,201,482 (+)NCBI
GRCh37822,022,653 - 22,069,839 (+)ENTREZGENE
HuRef820,564,967 - 20,612,031 (+)ENTREZGENE
CHM1_1822,224,312 - 22,260,657 (+)NCBI
T2T-CHM13v2.0822,439,316 - 22,475,436 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001190 (Get FASTA)   NCBI Sequence Viewer  
  NP_006120 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51833 (Get FASTA)   NCBI Sequence Viewer  
  AAA93462 (Get FASTA)   NCBI Sequence Viewer  
  AAC41703 (Get FASTA)   NCBI Sequence Viewer  
  AAC41710 (Get FASTA)   NCBI Sequence Viewer  
  AAD15059 (Get FASTA)   NCBI Sequence Viewer  
  AAI01764 (Get FASTA)   NCBI Sequence Viewer  
  AAI01766 (Get FASTA)   NCBI Sequence Viewer  
  AAI36680 (Get FASTA)   NCBI Sequence Viewer  
  AAI42954 (Get FASTA)   NCBI Sequence Viewer  
  AAI43339 (Get FASTA)   NCBI Sequence Viewer  
  AAL55830 (Get FASTA)   NCBI Sequence Viewer  
  BAA76306 (Get FASTA)   NCBI Sequence Viewer  
  BAD92827 (Get FASTA)   NCBI Sequence Viewer  
  BAF84309 (Get FASTA)   NCBI Sequence Viewer  
  CAA69973 (Get FASTA)   NCBI Sequence Viewer  
  CAA69974 (Get FASTA)   NCBI Sequence Viewer  
  CAA69975 (Get FASTA)   NCBI Sequence Viewer  
  EAW63695 (Get FASTA)   NCBI Sequence Viewer  
  EAW63697 (Get FASTA)   NCBI Sequence Viewer  
  EAW63698 (Get FASTA)   NCBI Sequence Viewer  
  EAW63702 (Get FASTA)   NCBI Sequence Viewer  
  EAW63703 (Get FASTA)   NCBI Sequence Viewer  
  EAW63704 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000305714
  ENSP00000305714.5
  ENSP00000306121
  ENSP00000306121.8
  ENSP00000346941.5
  ENSP00000380915.4
  ENSP00000427950.1
  ENSP00000428249.1
  ENSP00000428332.1
  ENSP00000428665.1
  ENSP00000428798.1
  ENSP00000430015.2
  ENSP00000430406.1
  ENSP00000430977.1
GenBank Protein P13497 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006120   ⟸   NM_006129
- Peptide Label: isoform 3 precursor
- UniProtKB: Q99423 (UniProtKB/Swiss-Prot),   Q99422 (UniProtKB/Swiss-Prot),   Q99421 (UniProtKB/Swiss-Prot),   Q14874 (UniProtKB/Swiss-Prot),   Q13872 (UniProtKB/Swiss-Prot),   Q13292 (UniProtKB/Swiss-Prot),   D3DSR0 (UniProtKB/Swiss-Prot),   B2RN46 (UniProtKB/Swiss-Prot),   A8K6F5 (UniProtKB/Swiss-Prot),   Q9UL38 (UniProtKB/Swiss-Prot),   P13497 (UniProtKB/Swiss-Prot),   A5PLK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001190   ⟸   NM_001199
- Peptide Label: isoform 1 precursor
- UniProtKB: Q59F71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000306121   ⟸   ENST00000306349
RefSeq Acc Id: ENSP00000305714   ⟸   ENST00000306385
RefSeq Acc Id: ENSP00000427950   ⟸   ENST00000518913
RefSeq Acc Id: ENSP00000430977   ⟸   ENST00000518656
RefSeq Acc Id: ENSP00000428798   ⟸   ENST00000520982
RefSeq Acc Id: ENSP00000428332   ⟸   ENST00000520970
RefSeq Acc Id: ENSP00000430015   ⟸   ENST00000520626
RefSeq Acc Id: ENSP00000430406   ⟸   ENST00000521385
RefSeq Acc Id: ENSP00000428249   ⟸   ENST00000483364
RefSeq Acc Id: ENSP00000428665   ⟸   ENST00000471755
RefSeq Acc Id: ENSP00000346941   ⟸   ENST00000354870
RefSeq Acc Id: ENSP00000380915   ⟸   ENST00000397814
Protein Domains
CUB   EGF-like   Peptidase M12A

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13497-F1-model_v2 AlphaFold P13497 1-986 view protein structure

Promoters
RGD ID:6806518
Promoter ID:HG_KWN:60879
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354870,   ENST00000381349,   ENST00000397814,   ENST00000397816,   NR_033403,   OTTHUMT00000214995,   UC003XBA.1,   UC003XBB.1,   UC003XBC.1,   UC003XBD.1,   UC003XBE.1,   UC003XBF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36822,078,001 - 22,078,827 (+)MPROMDB
RGD ID:6806519
Promoter ID:HG_KWN:60881
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003XBI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36822,113,854 - 22,114,354 (+)MPROMDB
RGD ID:7212787
Promoter ID:EPDNEW_H12139
Type:initiation region
Name:BMP1_3
Description:bone morphogenetic protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12140  EPDNEW_H12141  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,164,716 - 22,164,776EPDNEW
RGD ID:7212789
Promoter ID:EPDNEW_H12140
Type:initiation region
Name:BMP1_2
Description:bone morphogenetic protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12139  EPDNEW_H12141  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,165,196 - 22,165,256EPDNEW
RGD ID:7212791
Promoter ID:EPDNEW_H12141
Type:initiation region
Name:BMP1_1
Description:bone morphogenetic protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12139  EPDNEW_H12140  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38822,165,372 - 22,165,432EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1067 AgrOrtholog
COSMIC BMP1 COSMIC
Ensembl Genes ENSG00000168487 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306349 ENTREZGENE
  ENST00000306349.13 UniProtKB/Swiss-Prot
  ENST00000306385 ENTREZGENE
  ENST00000306385.10 UniProtKB/Swiss-Prot
  ENST00000354870.5 UniProtKB/TrEMBL
  ENST00000397814.7 UniProtKB/TrEMBL
  ENST00000471755.5 UniProtKB/Swiss-Prot
  ENST00000483364.5 UniProtKB/TrEMBL
  ENST00000518656.5 UniProtKB/TrEMBL
  ENST00000518913 ENTREZGENE
  ENST00000518913.5 UniProtKB/TrEMBL
  ENST00000520626.6 UniProtKB/TrEMBL
  ENST00000520970.5 UniProtKB/Swiss-Prot
  ENST00000520982 ENTREZGENE
  ENST00000520982.5 UniProtKB/TrEMBL
  ENST00000521385.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168487 GTEx
HGNC ID HGNC:1067 ENTREZGENE
Human Proteome Map BMP1 Human Proteome Map
InterPro BMP_1/tolloid-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CUB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M12A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_Metallo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnMP_TLD/BMP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:649 UniProtKB/Swiss-Prot
NCBI Gene 649 ENTREZGENE
OMIM 112264 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN 1 UniProtKB/TrEMBL
  BONE MORPHOGENETIC PROTEIN 1 UniProtKB/TrEMBL
  COMPLEMENT COMPONENT 1, S SUBCOMPONENT-RELATED UniProtKB/Swiss-Prot
  CUB AND SUSHI DOMAIN-CONTAINING PROTEIN 3 ISOFORM X1 UniProtKB/Swiss-Prot
  DISCOIDIN, CUB, EGF, LAMININ , AND ZINC METALLOPROTEASE DOMAIN CONTAINING UniProtKB/TrEMBL
  OVOCHYMASE-RELATED UniProtKB/TrEMBL
Pfam Astacin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXa_inhibition UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB BMP1 RGD, PharmGKB
PIRSF BMP_1/tolloid-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ASTACIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASTACIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnMc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/TrEMBL
  Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PLK9 ENTREZGENE, UniProtKB/TrEMBL
  A8K6F5 ENTREZGENE
  B2RN46 ENTREZGENE
  B7ZKR5_HUMAN UniProtKB/TrEMBL
  BMP1_HUMAN UniProtKB/Swiss-Prot
  D3DSR0 ENTREZGENE
  E5RH22_HUMAN UniProtKB/TrEMBL
  P13497 ENTREZGENE
  Q13292 ENTREZGENE
  Q13872 ENTREZGENE
  Q14874 ENTREZGENE
  Q3MIM8_HUMAN UniProtKB/TrEMBL
  Q59F71 ENTREZGENE, UniProtKB/TrEMBL
  Q99421 ENTREZGENE
  Q99422 ENTREZGENE
  Q99423 ENTREZGENE
  Q9UL38 ENTREZGENE
UniProt Secondary A8K6F5 UniProtKB/Swiss-Prot
  B2RN46 UniProtKB/Swiss-Prot
  D3DSR0 UniProtKB/Swiss-Prot
  Q13292 UniProtKB/Swiss-Prot
  Q13872 UniProtKB/Swiss-Prot
  Q14874 UniProtKB/Swiss-Prot
  Q99421 UniProtKB/Swiss-Prot
  Q99422 UniProtKB/Swiss-Prot
  Q99423 UniProtKB/Swiss-Prot
  Q9UL38 UniProtKB/Swiss-Prot