BMP15 (bone morphogenetic protein 15) - Rat Genome Database

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Gene: BMP15 (bone morphogenetic protein 15) Homo sapiens
Analyze
Symbol: BMP15
Name: bone morphogenetic protein 15
RGD ID: 730933
HGNC Page HGNC:1068
Description: Predicted to enable cytokine activity. Predicted to be involved in ovarian cumulus expansion. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in extracellular space. Implicated in ovarian dysgenesis 2 and primary ovarian insufficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-15; GDF-9B; GDF9B; growth/differentiation factor 9B; ODG2; POF4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X50,910,735 - 50,916,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX50,910,735 - 50,916,641 (+)EnsemblGRCh38hg38GRCh38
GRCh37X50,653,735 - 50,659,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X50,670,524 - 50,676,347 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X50,486,819 - 50,492,643NCBI
CeleraX54,697,190 - 54,703,096 (+)NCBICelera
Cytogenetic MapXp11.22NCBI
HuRefX48,097,311 - 48,103,406 (+)NCBIHuRef
CHM1_1X50,733,338 - 50,739,244 (+)NCBICHM1_1
T2T-CHM13v2.0X50,181,955 - 50,187,861 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Missense mutations in the BMP15 gene are associated with ovarian failure. Dixit H, etal., Hum Genet. 2006 May;119(4):408-15. Epub 2006 Mar 1.
2. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Galloway SM, etal., Nat Genet 2000 Jul;25(3):279-83.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Estrogen-related genes and postmenopausal osteoporosis risk. Mendoza N, etal., Climacteric. 2012 Dec;15(6):587-93. doi: 10.3109/13697137.2012.656160. Epub 2012 Feb 15.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9849956   PMID:10443672   PMID:10998422   PMID:11741284   PMID:12419820   PMID:12446716   PMID:12477932   PMID:14970198   PMID:15136966   PMID:15489334   PMID:15772651   PMID:15809424  
PMID:16464940   PMID:16645022   PMID:17027369   PMID:17464588   PMID:17826728   PMID:17905236   PMID:18006624   PMID:18227435   PMID:18308851   PMID:18614612   PMID:18980767   PMID:19263482  
PMID:19346101   PMID:19376510   PMID:19438907   PMID:19553676   PMID:19635612   PMID:19651638   PMID:19933466   PMID:20067794   PMID:20236105   PMID:20364024   PMID:20547206   PMID:20734064  
PMID:20937357   PMID:21226076   PMID:21496799   PMID:21565556   PMID:21632818   PMID:21669410   PMID:21873635   PMID:22014425   PMID:22294741   PMID:22356426   PMID:22382392   PMID:22825968  
PMID:23173577   PMID:23782946   PMID:24140593   PMID:24413384   PMID:24980253   PMID:25139161   PMID:25155366   PMID:25172094   PMID:25246117   PMID:25336710   PMID:25445105   PMID:25721374  
PMID:25798074   PMID:25954833   PMID:26186194   PMID:26254468   PMID:27070094   PMID:28094433   PMID:28359091   PMID:28514442   PMID:28983616   PMID:29544636   PMID:29916099   PMID:30039232  
PMID:30060157   PMID:31392662   PMID:31957178   PMID:32304195   PMID:32997425   PMID:33397408   PMID:33961781   PMID:34187539   PMID:35232444   PMID:35861920   PMID:36372988   PMID:36689045  


Genomics

Comparative Map Data
BMP15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X50,910,735 - 50,916,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX50,910,735 - 50,916,641 (+)EnsemblGRCh38hg38GRCh38
GRCh37X50,653,735 - 50,659,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X50,670,524 - 50,676,347 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X50,486,819 - 50,492,643NCBI
CeleraX54,697,190 - 54,703,096 (+)NCBICelera
Cytogenetic MapXp11.22NCBI
HuRefX48,097,311 - 48,103,406 (+)NCBIHuRef
CHM1_1X50,733,338 - 50,739,244 (+)NCBICHM1_1
T2T-CHM13v2.0X50,181,955 - 50,187,861 (+)NCBIT2T-CHM13v2.0
Bmp15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X6,226,108 - 6,232,778 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX6,226,161 - 6,232,775 (-)EnsemblGRCm39 Ensembl
GRCm38X6,314,054 - 6,320,724 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX6,314,107 - 6,320,721 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X5,891,224 - 5,897,841 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X5,489,598 - 5,496,190 (-)NCBIMGSCv36mm8
CeleraX5,090,389 - 5,097,007 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX2.81NCBI
Bmp15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X18,840,943 - 18,846,006 (+)NCBIGRCr8
mRatBN7.2X16,169,123 - 16,174,187 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX16,169,123 - 16,174,187 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX20,981,822 - 20,986,886 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X19,096,380 - 19,101,444 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X15,361,328 - 15,366,392 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X17,016,831 - 17,021,894 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX17,016,778 - 17,023,418 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X17,797,360 - 17,802,423 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X29,003,933 - 29,008,996 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X29,057,401 - 29,062,465 (-)NCBI
CeleraX16,238,220 - 16,243,279 (+)NCBICelera
Cytogenetic MapXq12NCBI
Bmp15
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555432,339,659 - 2,345,406 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555432,304,112 - 2,345,376 (+)NCBIChiLan1.0ChiLan1.0
BMP15
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X52,284,905 - 52,291,966 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X52,288,509 - 52,295,570 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X43,071,039 - 43,076,941 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X50,783,925 - 50,789,830 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX50,783,925 - 50,791,369 (+)Ensemblpanpan1.1panPan2
BMP15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X43,765,126 - 43,771,277 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX43,764,777 - 43,771,287 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX18,142,461 - 18,147,409 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X43,885,645 - 43,890,593 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX43,885,666 - 43,890,593 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.0X43,877,414 - 43,882,362 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X43,972,394 - 43,977,342 (+)NCBIUU_Cfam_GSD_1.0
Bmp15
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X36,301,604 - 36,318,300 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936873109,156 - 115,498 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX44,613,122 - 44,620,575 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X44,613,122 - 44,620,575 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X49,544,707 - 49,550,877 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMP15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X47,713,434 - 47,722,818 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX47,713,957 - 47,719,777 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660861,314,361 - 1,320,255 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmp15
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248933,014,989 - 3,021,746 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248933,014,535 - 3,020,862 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMP15
44 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) single nucleotide variant Ovarian dysgenesis 2 [RCV000012225] ChrX:50916132 [GRCh38]
ChrX:50659132 [GRCh37]
ChrX:Xp11.22		 pathogenic
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) single nucleotide variant Ovarian dysgenesis 2 [RCV001169399]|Premature ovarian failure 4 [RCV000012226] ChrX:50911009 [GRCh38]
ChrX:50654009 [GRCh37]
ChrX:Xp11.22		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) single nucleotide variant Ovarian dysgenesis 2 [RCV000990826]|Premature ovarian failure 4 [RCV000012227] ChrX:50915966 [GRCh38]
ChrX:50658966 [GRCh37]
ChrX:Xp11.22		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005448.2(BMP15):c.631C>T (p.Gln211Ter) single nucleotide variant Premature ovarian failure 4 [RCV000012228] ChrX:50916059 [GRCh38]
ChrX:50659059 [GRCh37]
ChrX:Xp11.22		 pathogenic
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) single nucleotide variant BMP15-related condition [RCV003944814]|Ovarian dysgenesis 2 [RCV000357909]|Premature ovarian failure 4 [RCV000012229]|not provided [RCV000519346] ChrX:50910985 [GRCh38]
ChrX:50653985 [GRCh37]
ChrX:Xp11.22		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
NM_005448.2(BMP15):c.-9C>G single nucleotide variant Ovarian dysgenesis 2 [RCV000271182]|not specified [RCV000123855] ChrX:50910775 [GRCh38]
ChrX:50653775 [GRCh37]
ChrX:Xp11.22		 benign
NM_005448.2(BMP15):c.308A>G (p.Asn103Ser) single nucleotide variant Ovarian dysgenesis 2 [RCV000265541]|not specified [RCV000123856] ChrX:50911091 [GRCh38]
ChrX:50654091 [GRCh37]
ChrX:Xp11.22		 benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005448.2(BMP15):c.*13G>A single nucleotide variant Ovarian dysgenesis 2 [RCV000401129]|not specified [RCV000244661] ChrX:50916620 [GRCh38]
ChrX:50659620 [GRCh37]
ChrX:Xp11.22		 benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005448.2(BMP15):c.783TCT[3] (p.Leu263dup) microsatellite Ovarian dysgenesis [RCV000374288]|not provided [RCV001711704]|not specified [RCV000249915] ChrX:50916210..50916211 [GRCh38]
ChrX:50659210..50659211 [GRCh37]
ChrX:Xp11.22		 benign
NM_005448.2(BMP15):c.852C>T (p.Ser284=) single nucleotide variant Ovarian dysgenesis 2 [RCV000292718]|not specified [RCV000245391] ChrX:50916280 [GRCh38]
ChrX:50659280 [GRCh37]
ChrX:Xp11.22		 benign
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) single nucleotide variant Ovarian dysgenesis 2 [RCV000990825]|not specified [RCV000252937] ChrX:50910796 [GRCh38]
ChrX:50653796 [GRCh37]
ChrX:Xp11.22		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005448.2(BMP15):c.819A>C (p.Ser273=) single nucleotide variant Ovarian dysgenesis 2 [RCV001166454]|not provided [RCV000901860]|not specified [RCV000253260] ChrX:50916247 [GRCh38]
ChrX:50659247 [GRCh37]
ChrX:Xp11.22		 benign
NM_005448.2(BMP15):c.581T>C (p.Phe194Ser) single nucleotide variant BMP15-related condition [RCV003957882]|Ovarian dysgenesis 2 [RCV000278528]|not provided [RCV000973268] ChrX:50916009 [GRCh38]
ChrX:50659009 [GRCh37]
ChrX:Xp11.22		 benign|likely benign
NM_005448.2(BMP15):c.443T>C (p.Leu148Pro) single nucleotide variant Ovarian dysgenesis 2 [RCV000322944]|not provided [RCV000835592] ChrX:50915871 [GRCh38]
ChrX:50658871 [GRCh37]
ChrX:Xp11.22		 benign|likely benign
NM_005448.2(BMP15):c.598C>T (p.His200Tyr) single nucleotide variant Ovarian dysgenesis 2 [RCV000317298] ChrX:50916026 [GRCh38]
ChrX:50659026 [GRCh37]
ChrX:Xp11.22		 benign|likely benign
NM_005448.2(BMP15):c.1011C>T (p.His337=) single nucleotide variant Ovarian dysgenesis 2 [RCV000349936]|not provided [RCV000951361] ChrX:50916439 [GRCh38]
ChrX:50659439 [GRCh37]
ChrX:Xp11.22		 benign|likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.22(chrX:50394843-50659280)x2 copy number gain not provided [RCV000684333] ChrX:50394843..50659280 [GRCh37]
ChrX:Xp11.22		 likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.50653777_50689335del35559 deletion Primary amenorrhea [RCV000754478] ChrX:50910779..50946337 [GRCh38]
ChrX:50653777..50689335 [GRCh37]
ChrX:Xp11.22		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_005448.2(BMP15):c.596del (p.Gly199fs) deletion Ovarian dysgenesis 2 [RCV000778898] ChrX:50916022 [GRCh38]
ChrX:50659022 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
NM_005448.2(BMP15):c.920A>G (p.His307Arg) single nucleotide variant Ovarian dysgenesis 2 [RCV001166455] ChrX:50916348 [GRCh38]
ChrX:50659348 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005448.2(BMP15):c.162C>T (p.Gly54=) single nucleotide variant Ovarian dysgenesis 2 [RCV001169398]|not provided [RCV003438711] ChrX:50910945 [GRCh38]
ChrX:50653945 [GRCh37]
ChrX:Xp11.22		 benign|likely benign
NC_000023.10:g.(?_47001716)_(50659607_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] ChrX:47001716..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_005448.2(BMP15):c.607C>T (p.Leu203=) single nucleotide variant not provided [RCV000909764] ChrX:50916035 [GRCh38]
ChrX:50659035 [GRCh37]
ChrX:Xp11.22		 likely benign
NM_005448.2(BMP15):c.208A>C (p.Met70Leu) single nucleotide variant Genetic non-acquired premature ovarian failure [RCV001661770] ChrX:50910991 [GRCh38]
ChrX:50653991 [GRCh37]
ChrX:Xp11.22		 likely pathogenic
NM_005448.2(BMP15):c.329-74A>C single nucleotide variant not provided [RCV001717204] ChrX:50915683 [GRCh38]
ChrX:50658683 [GRCh37]
ChrX:Xp11.22		 benign
NC_000023.11:g.50916890_50916894del deletion not provided [RCV001592009] ChrX:50916890..50916894 [GRCh38]
ChrX:50659890..50659894 [GRCh37]
ChrX:Xp11.22		 likely benign
GRCh37/hg19 Xp11.22(chrX:50032383-50694969)x3 copy number gain not provided [RCV001007304] ChrX:50032383..50694969 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_005448.2(BMP15):c.919C>T (p.His307Tyr) single nucleotide variant Genetic non-acquired premature ovarian failure [RCV001663380] ChrX:50916347 [GRCh38]
ChrX:50659347 [GRCh37]
ChrX:Xp11.22		 likely pathogenic
NM_005448.2(BMP15):c.811G>T (p.Gly271Cys) single nucleotide variant Inborn genetic diseases [RCV003293912]|Ovarian dysgenesis 2 [RCV001166453] ChrX:50916239 [GRCh38]
ChrX:50659239 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.462del (p.Trp155fs) deletion Ovarian dysgenesis 2 [RCV001249552] ChrX:50915888 [GRCh38]
ChrX:50658888 [GRCh37]
ChrX:Xp11.22		 likely pathogenic
NM_005448.2(BMP15):c.985C>T (p.Arg329Cys) single nucleotide variant Ovarian dysgenesis 2 [RCV001249554]|not provided [RCV002282500] ChrX:50916413 [GRCh38]
ChrX:50659413 [GRCh37]
ChrX:Xp11.22		 likely pathogenic|uncertain significance
NM_005448.2(BMP15):c.520C>T (p.Pro174Ser) single nucleotide variant Ovarian dysgenesis 2 [RCV001169400] ChrX:50915948 [GRCh38]
ChrX:50658948 [GRCh37]
ChrX:Xp11.22		 likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.22(chrX:50534326-50825153)x2 copy number gain not provided [RCV001258796] ChrX:50534326..50825153 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_005448.2(BMP15):c.-49_*34del (p.Met1fs) deletion Ovarian dysgenesis 2 [RCV001249553] ChrX:50910735..50916641 [GRCh38]
ChrX:50653735..50659641 [GRCh37]
ChrX:Xp11.22		 pathogenic
NM_005448.2(BMP15):c.915G>A (p.Trp305Ter) single nucleotide variant Ovarian dysgenesis 2 [RCV001336820] ChrX:50916343 [GRCh38]
ChrX:50659343 [GRCh37]
ChrX:Xp11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_005448.2(BMP15):c.343C>T (p.Gln115Ter) single nucleotide variant Ovarian dysgenesis 2 [RCV001336819] ChrX:50915771 [GRCh38]
ChrX:50658771 [GRCh37]
ChrX:Xp11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005448.2(BMP15):c.413G>A (p.Arg138His) single nucleotide variant Ovarian dysgenesis 2 [RCV002249300] ChrX:50915841 [GRCh38]
ChrX:50658841 [GRCh37]
ChrX:Xp11.22		 pathogenic
NM_005448.2(BMP15):c.617G>A (p.Arg206His) single nucleotide variant Ovarian dysgenesis 2 [RCV002249301] ChrX:50916045 [GRCh38]
ChrX:50659045 [GRCh37]
ChrX:Xp11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_005448.2(BMP15):c.986G>A (p.Arg329His) single nucleotide variant not provided [RCV001757165] ChrX:50916414 [GRCh38]
ChrX:50659414 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.22(chrX:50587656-50777466)x0 copy number loss not provided [RCV001827655] ChrX:50587656..50777466 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_48368209)_(51241672_?)dup duplication X-linked severe congenital neutropenia [RCV003111119] ChrX:48368209..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NC_000023.10:g.(?_46466387)_(50659607_?)del deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] ChrX:46466387..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NC_000023.10:g.(?_48368209)_(51241672_?)del deletion not provided [RCV003116321] ChrX:48368209..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_005448.2(BMP15):c.85G>A (p.Gly29Arg) single nucleotide variant Inborn genetic diseases [RCV003275783] ChrX:50910868 [GRCh38]
ChrX:50653868 [GRCh37]
ChrX:Xp11.22		 likely benign
NM_005448.2(BMP15):c.661T>C (p.Trp221Arg) single nucleotide variant Ovarian dysgenesis 2 [RCV002249302] ChrX:50916089 [GRCh38]
ChrX:50659089 [GRCh37]
ChrX:Xp11.22		 pathogenic
NM_005448.2(BMP15):c.727A>G (p.Ile243Val) single nucleotide variant Ovarian dysgenesis 2 [RCV002249303] ChrX:50916155 [GRCh38]
ChrX:50659155 [GRCh37]
ChrX:Xp11.22		 pathogenic
NC_000023.10:g.(?_46466387)_(51241672_?)del deletion not provided [RCV003154905] ChrX:46466387..51241672 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
Single allele duplication not provided [RCV002266743] ChrX:50651326..50920678 [GRCh38]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele deletion X-linked intellectual disability, Stocco dos Santos type [RCV002287906] ChrX:49375617..52838206 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22		 pathogenic
NM_005448.2(BMP15):c.269T>C (p.Ile90Thr) single nucleotide variant Inborn genetic diseases [RCV002751937] ChrX:50911052 [GRCh38]
ChrX:50654052 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.755G>T (p.Gly252Val) single nucleotide variant Inborn genetic diseases [RCV002729590] ChrX:50916183 [GRCh38]
ChrX:50659183 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.19C>G (p.Leu7Val) single nucleotide variant Inborn genetic diseases [RCV002705026] ChrX:50910802 [GRCh38]
ChrX:50653802 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.23G>T (p.Arg8Ile) single nucleotide variant Inborn genetic diseases [RCV002920942] ChrX:50910806 [GRCh38]
ChrX:50653806 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.166C>T (p.Gln56Ter) single nucleotide variant not provided [RCV002988745] ChrX:50910949 [GRCh38]
ChrX:50653949 [GRCh37]
ChrX:Xp11.22		 pathogenic
NM_005448.2(BMP15):c.862A>G (p.Asn288Asp) single nucleotide variant Inborn genetic diseases [RCV002680513] ChrX:50916290 [GRCh38]
ChrX:50659290 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.1004C>A (p.Pro335His) single nucleotide variant Inborn genetic diseases [RCV003277778] ChrX:50916432 [GRCh38]
ChrX:50659432 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.1087G>A (p.Val363Ile) single nucleotide variant Inborn genetic diseases [RCV003173463] ChrX:50916515 [GRCh38]
ChrX:50659515 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.529A>T (p.Met177Leu) single nucleotide variant Inborn genetic diseases [RCV003201381] ChrX:50915957 [GRCh38]
ChrX:50658957 [GRCh37]
ChrX:Xp11.22		 likely benign
NM_005448.2(BMP15):c.731G>A (p.Arg244Gln) single nucleotide variant Ovarian dysgenesis 2 [RCV003143798] ChrX:50916159 [GRCh38]
ChrX:50659159 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.806C>A (p.Ala269Glu) single nucleotide variant Inborn genetic diseases [RCV003309485] ChrX:50916234 [GRCh38]
ChrX:50659234 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3 copy number gain not provided [RCV003485288] ChrX:48224455..52832596 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.22(chrX:50394844-50657896)x3 copy number gain not provided [RCV003485289] ChrX:50394844..50657896 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp11.22(chrX:50537803-51020291)x3 copy number gain not provided [RCV003485290] ChrX:50537803..51020291 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22		 pathogenic
NM_005448.2(BMP15):c.611G>A (p.Arg204Gln) single nucleotide variant Ovarian dysgenesis 2 [RCV003444483] ChrX:50916039 [GRCh38]
ChrX:50659039 [GRCh37]
ChrX:Xp11.22		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp11.22(chrX:50394843-50666385) copy number gain not specified [RCV003986259] ChrX:50394843..50666385 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.409T>A (p.Tyr137Asn) single nucleotide variant BMP15-related condition [RCV003959138]|Inborn genetic diseases [RCV004369846] ChrX:50915837 [GRCh38]
ChrX:50658837 [GRCh37]
ChrX:Xp11.22		 likely benign|uncertain significance
NM_005448.2(BMP15):c.652C>T (p.Leu218Phe) single nucleotide variant BMP15-related condition [RCV003899470] ChrX:50916080 [GRCh38]
ChrX:50659080 [GRCh37]
ChrX:Xp11.22		 likely benign
NM_005448.2(BMP15):c.730C>T (p.Arg244Trp) single nucleotide variant Inborn genetic diseases [RCV004431865] ChrX:50916158 [GRCh38]
ChrX:50659158 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.910G>A (p.Gly304Ser) single nucleotide variant Inborn genetic diseases [RCV004431866] ChrX:50916338 [GRCh38]
ChrX:50659338 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.262C>T (p.Arg88Cys) single nucleotide variant Inborn genetic diseases [RCV004431863] ChrX:50911045 [GRCh38]
ChrX:50654045 [GRCh37]
ChrX:Xp11.22		 uncertain significance
NM_005448.2(BMP15):c.590A>T (p.Asn197Ile) single nucleotide variant Inborn genetic diseases [RCV004431864] ChrX:50916018 [GRCh38]
ChrX:50659018 [GRCh37]
ChrX:Xp11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:74
Count of miRNA genes:72
Interacting mature miRNAs:74
Transcripts:ENST00000252677
Prediction methods:Miranda, Rnahybrid
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
BMP15_481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,658,809 - 50,659,665UniSTSGRCh37
Build 36X50,675,549 - 50,676,405RGDNCBI36
CeleraX54,702,264 - 54,703,120RGD
HuRefX48,102,575 - 48,103,430UniSTS
BMP15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,659,305 - 50,659,444UniSTSGRCh37
CeleraX54,702,760 - 54,702,899UniSTS
HuRefX48,103,070 - 48,103,209UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium
Low 3 2 159 10
Below cutoff 104 140 106 25 45 17 164 96 293 26 283 230 8 121 99 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000252677   ⟹   ENSP00000252677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX50,910,735 - 50,916,641 (+)Ensembl
RefSeq Acc Id: NM_005448   ⟹   NP_005439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,910,735 - 50,916,641 (+)NCBI
GRCh37X50,653,735 - 50,659,641 (+)ENTREZGENE
Build 36X50,670,524 - 50,676,347 (+)NCBI Archive
HuRefX48,097,311 - 48,103,406 (+)ENTREZGENE
CHM1_1X50,733,338 - 50,739,244 (+)NCBI
T2T-CHM13v2.0X50,181,955 - 50,187,861 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005439   ⟸   NM_005448
- Peptide Label: preproprotein
- UniProtKB: Q5JST1 (UniProtKB/Swiss-Prot),   Q17RM6 (UniProtKB/Swiss-Prot),   Q9UMS1 (UniProtKB/Swiss-Prot),   O95972 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000252677   ⟸   ENST00000252677
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95972-F1-model_v2 AlphaFold O95972 1-392 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1068 AgrOrtholog
COSMIC BMP15 COSMIC
Ensembl Genes ENSG00000130385 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252677 ENTREZGENE
  ENST00000252677.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130385 GTEx
HGNC ID HGNC:1068 ENTREZGENE
Human Proteome Map BMP15 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9210 UniProtKB/Swiss-Prot
NCBI Gene 9210 ENTREZGENE
OMIM 300247 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11848:SF22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25378 PharmGKB
PRINTS INHIBINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2Z1C250_HUMAN UniProtKB/TrEMBL
  A0A2Z1C4N0_HUMAN UniProtKB/TrEMBL
  BMP15_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q17RM6 ENTREZGENE
  Q5JST1 ENTREZGENE
  Q9UMS1 ENTREZGENE
UniProt Secondary Q17RM6 UniProtKB/Swiss-Prot
  Q5JST1 UniProtKB/Swiss-Prot
  Q9UMS1 UniProtKB/Swiss-Prot