GDF2 (growth differentiation factor 2) - Rat Genome Database

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Gene: GDF2 (growth differentiation factor 2) Homo sapiens
Analyze
Symbol: GDF2
Name: growth differentiation factor 2
RGD ID: 1353215
HGNC Page HGNC:4217
Description: Enables cytokine activity; growth factor activity; and protein serine/threonine kinase activator activity. Involved in several processes, including positive regulation of macromolecule biosynthetic process; regulation of endothelial cell proliferation; and transforming growth factor beta receptor superfamily signaling pathway. Located in extracellular exosome. Is active in extracellular space. Implicated in hereditary hemorrhagic telangiectasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-9; BMP9; bone morphogenetic protein 9; GDF-2; growth/differentiation factor 2; HHT5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh381047,322,454 - 47,327,588 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1047,322,454 - 47,327,588 (+)EnsemblGRCh38hg38GRCh38
GRCh371048,411,774 - 48,416,908 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361048,033,098 - 48,036,859 (-)NCBINCBI36Build 36hg18NCBI36
Build 341048,033,097 - 48,036,859NCBI
Celera1044,836,998 - 44,840,759 (-)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1043,165,547 - 43,169,308 (-)NCBIHuRef
CHM1_11048,578,140 - 48,581,901 (-)NCBICHM1_1
T2T-CHM13v2.01048,213,864 - 48,218,998 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IDA)
angiogenesis  (IEA,IMP)
blood vessel morphogenesis  (IDA)
BMP signaling pathway  (IBA,IDA,IEA)
branching involved in blood vessel morphogenesis  (IDA,IEA)
cartilage development  (TAS)
cellular response to BMP stimulus  (IDA)
intracellular iron ion homeostasis  (TAS)
negative regulation of angiogenesis  (TAS)
negative regulation of blood vessel endothelial cell migration  (TAS)
negative regulation of cell growth  (IDA)
negative regulation of DNA replication  (TAS)
negative regulation of endothelial cell migration  (IDA)
negative regulation of endothelial cell proliferation  (IDA)
ossification  (TAS)
osteoblast differentiation  (IEA,ISO)
positive regulation of angiogenesis  (IDA,IEA)
positive regulation of bicellular tight junction assembly  (IDA)
positive regulation of BMP signaling pathway  (IEA)
positive regulation of cartilage development  (IEA)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell proliferation  (IDA,IEA)
positive regulation of epithelial cell differentiation  (IDA)
positive regulation of gene expression  (IEA,ISO)
positive regulation of interleukin-8 production  (IDA)
positive regulation of Notch signaling pathway  (IDA)
positive regulation of SMAD protein signal transduction  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
regulation of transforming growth factor beta receptor signaling pathway  (ISO)
signal transduction  (IEA)
transcription by RNA polymerase II  (IEA,ISO)
vasculogenesis  (IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7664647   PMID:10849432   PMID:10894782   PMID:11748585   PMID:12477932   PMID:15489334   PMID:15851468   PMID:16385451   PMID:17068149   PMID:17311849   PMID:17549388   PMID:18309101  
PMID:18922975   PMID:18986983   PMID:19056867   PMID:19086053   PMID:19366699   PMID:19903896   PMID:19996292   PMID:20237496   PMID:20301525   PMID:20346360   PMID:20398908   PMID:20406889  
PMID:20734064   PMID:21695154   PMID:21710321   PMID:21737454   PMID:21873635   PMID:22299030   PMID:22474252   PMID:22493445   PMID:22556408   PMID:22718755   PMID:22829878   PMID:22948234  
PMID:23018639   PMID:23313128   PMID:23807047   PMID:23844832   PMID:23936038   PMID:23972370   PMID:24019898   PMID:24072698   PMID:24337584   PMID:24413988   PMID:24670474   PMID:24805814  
PMID:25209393   PMID:25237187   PMID:25297851   PMID:25393508   PMID:25751889   PMID:25909848   PMID:26471266   PMID:26609524   PMID:26645636   PMID:26677222   PMID:26678910   PMID:27177272  
PMID:27208502   PMID:27275929   PMID:27647829   PMID:27699987   PMID:27706722   PMID:27875556   PMID:27940998   PMID:28054585   PMID:28249039   PMID:28415788   PMID:28564608   PMID:28646109  
PMID:28746898   PMID:28869862   PMID:28956179   PMID:29039519   PMID:29223735   PMID:29487140   PMID:29642505   PMID:29650961   PMID:29923343   PMID:30015950   PMID:30206934   PMID:30353129  
PMID:30578383   PMID:30578397   PMID:30628686   PMID:30758228   PMID:30844726   PMID:30899939   PMID:31146694   PMID:31155507   PMID:31203157   PMID:31237775   PMID:31431534   PMID:31661308  
PMID:31825894   PMID:32031986   PMID:32082362   PMID:32083953   PMID:32097313   PMID:32454407   PMID:32478395   PMID:32561494   PMID:32576665   PMID:32618121   PMID:32669404   PMID:32730768  
PMID:32813135   PMID:32871084   PMID:33066286   PMID:33171278   PMID:33246954   PMID:33334130   PMID:33834612   PMID:33834622   PMID:33879213   PMID:34019202   PMID:34240497   PMID:34265413  
PMID:34533030   PMID:34611981   PMID:34841646   PMID:34904380   PMID:35159174   PMID:36259599   PMID:36963166   PMID:37550619   PMID:37894931   PMID:38109991   PMID:38308064   PMID:38473983  
PMID:38492130  


Genomics

Comparative Map Data
GDF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381047,322,454 - 47,327,588 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1047,322,454 - 47,327,588 (+)EnsemblGRCh38hg38GRCh38
GRCh371048,411,774 - 48,416,908 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361048,033,098 - 48,036,859 (-)NCBINCBI36Build 36hg18NCBI36
Build 341048,033,097 - 48,036,859NCBI
Celera1044,836,998 - 44,840,759 (-)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1043,165,547 - 43,169,308 (-)NCBIHuRef
CHM1_11048,578,140 - 48,581,901 (-)NCBICHM1_1
T2T-CHM13v2.01048,213,864 - 48,218,998 (+)NCBIT2T-CHM13v2.0
Gdf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391433,662,996 - 33,669,155 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1433,662,996 - 33,669,155 (+)EnsemblGRCm39 Ensembl
GRCm381433,941,039 - 33,947,198 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1433,941,039 - 33,947,198 (+)EnsemblGRCm38mm10GRCm38
MGSCv371434,754,225 - 34,760,384 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361432,770,131 - 32,776,290 (+)NCBIMGSCv36mm8
Celera1430,207,057 - 30,213,220 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1420.8NCBI
Gdf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8169,261,679 - 9,267,678 (+)NCBIGRCr8
mRatBN7.2169,255,430 - 9,261,429 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl169,255,430 - 9,261,429 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx169,274,892 - 9,280,894 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01610,419,603 - 10,425,605 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0169,269,971 - 9,275,973 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01610,267,510 - 10,293,545 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1610,267,482 - 10,273,239 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0168,588,086 - 8,614,187 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera165,949,174 - 5,955,173 (-)NCBICelera
Cytogenetic Map16p16NCBI
Gdf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555562,205,071 - 2,209,055 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555562,204,841 - 2,210,335 (+)NCBIChiLan1.0ChiLan1.0
GDF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2859,983,769 - 59,988,902 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11059,989,086 - 59,994,219 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01046,520,808 - 46,526,414 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GDF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1434,996,767 - 35,001,094 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl434,997,579 - 35,001,203 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha434,961,160 - 34,965,493 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0435,357,262 - 35,361,597 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl435,357,079 - 35,361,635 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1435,188,996 - 35,193,329 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0435,370,258 - 35,374,589 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0435,877,822 - 35,882,155 (-)NCBIUU_Cfam_GSD_1.0
Gdf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721381,297,922 - 81,312,358 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365547,316,435 - 7,322,060 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365547,307,461 - 7,322,048 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1488,507,399 - 88,513,375 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11488,506,083 - 88,513,416 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21496,133,114 - 96,142,280 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GDF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1944,087,502 - 44,092,975 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl944,089,358 - 44,092,484 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660483,859,301 - 3,864,480 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in GDF2
235 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000010.10:g.(?_48413558)_(48416713_?)del deletion Telangiectasia, hereditary hemorrhagic, type 5 [RCV000553932] Chr10:48413558..48416713 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.11:g.47322154C>A single nucleotide variant not provided [RCV001564173] Chr10:47322154 [GRCh38]
Chr10:48417208 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000074344] Chr10:47322922 [GRCh38]
Chr10:48416440 [GRCh37]
Chr10:10q11.22
pathogenic
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000074345] Chr10:47322871 [GRCh38]
Chr10:48416491 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) single nucleotide variant Cardiovascular phenotype [RCV002381376]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000074346]|not provided [RCV003128578]|not specified [RCV002247467] Chr10:47325491 [GRCh38]
Chr10:48413871 [GRCh37]
Chr10:10q11.22
pathogenic|likely benign|uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2
pathogenic
NM_016204.2(GDF2):c.989C>T (p.Thr330Ile) single nucleotide variant Malignant melanoma [RCV000062037] Chr10:47325483 [GRCh38]
Chr10:48413879 [GRCh37]
Chr10:48033885 [NCBI36]
Chr10:10q11.22
not provided
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) single nucleotide variant Cardiovascular phenotype [RCV002339711]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001286485] Chr10:47324846 [GRCh38]
Chr10:48414516 [GRCh37]
Chr10:10q11.22
benign|likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133836] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47061001 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050303] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133669] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1 copy number loss See cases [RCV000133963] Chr10:46490281..48074662 [GRCh38]
Chr10:46550803..47410453 [GRCh37]
Chr10:45970809..46830459 [NCBI36]
Chr10:10q11.22
likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134855] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46404919..47238546 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 copy number gain See cases [RCV000134791] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46371235..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134826] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47125064 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 copy number gain See cases [RCV000134840] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46404919..46830487 [NCBI36]
Chr10:10q11.22
benign|likely benign|conflicting data from submitters
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 copy number loss See cases [RCV000134841] Chr10:46490281..47923579 [GRCh38]
Chr10:46984913..47410481 [GRCh37]
Chr10:46404919..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136435] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47702558 [GRCh37]
Chr10:46371268..47172564 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000135951] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404808..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136044] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000136045] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47590979 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000136063] Chr10:46146977..47987500 [GRCh38]
Chr10:45970793..47744290 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3 copy number gain See cases [RCV000137185] Chr10:46157935..48054380 [GRCh38]
Chr10:46609948..49262406 [GRCh37]
Chr10:46029954..48932412 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000137211] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768522 [GRCh37]
Chr10:46369261..47238528 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 copy number gain See cases [RCV000137212] Chr10:46490281..47923579 [GRCh38]
Chr10:46949255..47410453 [GRCh37]
Chr10:46369261..46830459 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1 copy number loss See cases [RCV000137215] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46369261..46830459 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138840] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139320] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138910] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139094] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47125064 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139485] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125064 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139516] Chr10:46157935..47923579 [GRCh38]
Chr10:46029938..47744290 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000139473] Chr10:46146977..47987500 [GRCh38]
Chr10:46550787..47929856 [GRCh37]
Chr10:45970793..47449862 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23
uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000141529] Chr10:46375049..47987500 [GRCh38]
Chr10:46949255..48364954 [GRCh37]
Chr10:46369261..47984960 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23
uncertain significance
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 copy number gain See cases [RCV000142486] Chr10:46490281..47923579 [GRCh38]
Chr10:46609932..47410481 [GRCh37]
Chr10:46029938..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 copy number loss See cases [RCV000142487] Chr10:46490281..47923579 [GRCh38]
Chr10:46951229..47410481 [GRCh37]
Chr10:46371235..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000142497] Chr10:46375049..47987500 [GRCh38]
Chr10:46371235..47744290 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000143045] Chr10:46375049..47987500 [GRCh38]
Chr10:47006954..47929856 [GRCh37]
Chr10:46371235..47449862 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000142911] Chr10:46157935..47923579 [GRCh38]
Chr10:46951229..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23
likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000142931] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47018978 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000148274] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148258] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148209] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148240] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148181] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000148189] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050252] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050260] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47655146 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050741] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050288] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050301] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000050321] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23
pathogenic|uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.-12C>T single nucleotide variant not provided [RCV000757327] Chr10:47322657 [GRCh38]
Chr10:48416705 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000547236] Chr10:47325557 [GRCh38]
Chr10:48413805 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000529932] Chr10:47325517 [GRCh38]
Chr10:48413845 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) single nucleotide variant Cardiovascular phenotype [RCV002384242]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000529163] Chr10:47325234 [GRCh38]
Chr10:48414128 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.346+10C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000651843]|not specified [RCV000606956] Chr10:47323024 [GRCh38]
Chr10:48416338 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.705_706delinsAA (p.Gly236Ser) indel Telangiectasia, hereditary hemorrhagic, type 5 [RCV003581685]|not specified [RCV000598850] Chr10:47325199..47325200 [GRCh38]
Chr10:48414162..48414163 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000555121] Chr10:47322954 [GRCh38]
Chr10:48416408 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.443C>G (p.Ala148Gly) single nucleotide variant not provided [RCV000723065] Chr10:47324937 [GRCh38]
Chr10:48414425 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) single nucleotide variant Cardiovascular phenotype [RCV002379281]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001084086]|not provided [RCV000415976] Chr10:47325784 [GRCh38]
Chr10:48413578 [GRCh37]
Chr10:10q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22(chr10:46321377-49376720)x3 copy number gain See cases [RCV000447498] Chr10:46321377..49376720 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) single nucleotide variant Cardiovascular phenotype [RCV002348181]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000651842]|not provided [RCV001720113] Chr10:47325511 [GRCh38]
Chr10:48413851 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000813163]|not provided [RCV000757326] Chr10:47325365 [GRCh38]
Chr10:48413997 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_016204.4(GDF2):c.1139T>C (p.Val380Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002063825]|not provided [RCV000483280] Chr10:47325633 [GRCh38]
Chr10:48413729 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_016204.4(GDF2):c.847G>A (p.Val283Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000546460]|not provided [RCV000493950] Chr10:47325341 [GRCh38]
Chr10:48414021 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000651839] Chr10:47325761 [GRCh38]
Chr10:48413601 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000651840] Chr10:47322757 [GRCh38]
Chr10:48416605 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) single nucleotide variant Pulmonary arterial hypertension [RCV002285168]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000651841] Chr10:47322744 [GRCh38]
Chr10:48416618 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic|uncertain significance
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2
likely pathogenic
NM_016204.4(GDF2):c.750C>A (p.Asn250Lys) single nucleotide variant Cardiovascular phenotype [RCV002395569]|Pulmonary arterial hypertension [RCV002285166]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002063257]|not specified [RCV000614335] Chr10:47325244 [GRCh38]
Chr10:48414118 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) single nucleotide variant Cardiovascular phenotype [RCV002377164]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001082466]|not provided [RCV000757325]|not specified [RCV000597100] Chr10:47325405 [GRCh38]
Chr10:48413957 [GRCh37]
Chr10:10q11.22
benign|likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23
pathogenic|likely pathogenic
GRCh37/hg19 10q11.22(chr10:47059392-48736754)x1 copy number loss not provided [RCV000683263] Chr10:47059392..48736754 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23
pathogenic|likely pathogenic
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000702710] Chr10:47325113 [GRCh38]
Chr10:48414249 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000688991] Chr10:47325131 [GRCh38]
Chr10:48414231 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1022G>A (p.Trp341Ter) single nucleotide variant not provided [RCV000723265] Chr10:47325516 [GRCh38]
Chr10:48413846 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) single nucleotide variant Cardiovascular phenotype [RCV002409024]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000864016] Chr10:47325562 [GRCh38]
Chr10:48413800 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.507C>T (p.Ser169=) single nucleotide variant Cardiovascular phenotype [RCV002336782]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002538967] Chr10:47325001 [GRCh38]
Chr10:48414361 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001459528]|not provided [RCV003232164] Chr10:47325775 [GRCh38]
Chr10:48413587 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000864841] Chr10:47324872 [GRCh38]
Chr10:48414490 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_016204.4(GDF2):c.478G>A (p.Val160Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000863777] Chr10:47324972 [GRCh38]
Chr10:48414390 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.901G>A (p.Glu301Lys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002064594] Chr10:47325395 [GRCh38]
Chr10:48413967 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001287872] Chr10:47325210 [GRCh38]
Chr10:48414152 [GRCh37]
Chr10:10q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001500555] Chr10:47325606 [GRCh38]
Chr10:48413756 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752) copy number loss not provided [RCV000767599] Chr10:48102606..50641752 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NC_000010.10:g.(?_48370533)_(48429566_?)dup duplication not provided [RCV001033568] Chr10:48370533..48429566 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp) single nucleotide variant Cardiovascular phenotype [RCV003380829]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001060968] Chr10:47325140 [GRCh38]
Chr10:48414222 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) single nucleotide variant Cardiovascular phenotype [RCV002409011]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000860855]|not provided [RCV001569431] Chr10:47325270 [GRCh38]
Chr10:48414092 [GRCh37]
Chr10:10q11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) single nucleotide variant Cardiovascular phenotype [RCV002363208]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000861140]|not provided [RCV001692296] Chr10:47325146 [GRCh38]
Chr10:48414216 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) single nucleotide variant Cardiovascular phenotype [RCV002454042]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001455915] Chr10:47325502 [GRCh38]
Chr10:48413860 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001262086] Chr10:47322994 [GRCh38]
Chr10:48416368 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic|likely benign
NM_016204.4(GDF2):c.963C>A (p.Ala321=) single nucleotide variant Cardiovascular phenotype [RCV002381948]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000867929] Chr10:47325457 [GRCh38]
Chr10:48413905 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1110G>A (p.Pro370=) single nucleotide variant Cardiovascular phenotype [RCV002427152]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002064570] Chr10:47325604 [GRCh38]
Chr10:48413758 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.792G>C (p.Gly264=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001468754]|not provided [RCV000827355] Chr10:47325286 [GRCh38]
Chr10:48414076 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.346+74G>A single nucleotide variant not provided [RCV000834019] Chr10:47323088 [GRCh38]
Chr10:48416274 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.347-49T>C single nucleotide variant not provided [RCV000834020] Chr10:47324792 [GRCh38]
Chr10:48414570 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000807042] Chr10:47325749 [GRCh38]
Chr10:48413613 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000807778] Chr10:47322732 [GRCh38]
Chr10:48416630 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000800727] Chr10:47325534 [GRCh38]
Chr10:48413828 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.203G>A (p.Arg68His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000800796] Chr10:47322871 [GRCh38]
Chr10:48416491 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000805895] Chr10:47325545 [GRCh38]
Chr10:48413817 [GRCh37]
Chr10:10q11.22
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_016204.4(GDF2):c.34C>T (p.Leu12=) single nucleotide variant Cardiovascular phenotype [RCV002453916]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001084722]|not provided [RCV000838276] Chr10:47322702 [GRCh38]
Chr10:48416660 [GRCh37]
Chr10:10q11.22
benign|likely benign
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) single nucleotide variant Cardiovascular phenotype [RCV002372294]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000815006] Chr10:47325458 [GRCh38]
Chr10:48413904 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_016204.4(GDF2):c.732C>T (p.Val244=) single nucleotide variant Cardiovascular phenotype [RCV002382007]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000876527] Chr10:47325226 [GRCh38]
Chr10:48414136 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) single nucleotide variant Cardiovascular phenotype [RCV002453942]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001496130] Chr10:47325592 [GRCh38]
Chr10:48413770 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.870C>T (p.Asp290=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002064455] Chr10:47325364 [GRCh38]
Chr10:48413998 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV000800879] Chr10:47325443 [GRCh38]
Chr10:48413919 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1 copy number loss not provided [RCV000849733] Chr10:48106368..51250418 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.984A>G (p.Gln328=) single nucleotide variant Cardiovascular phenotype [RCV002381968]|not provided [RCV000869733] Chr10:47325478 [GRCh38]
Chr10:48413884 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) single nucleotide variant Cardiovascular phenotype [RCV002418846]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001245801]|not provided [RCV001586087] Chr10:47322889 [GRCh38]
Chr10:48416473 [GRCh37]
Chr10:10q11.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001222293] Chr10:47325701 [GRCh38]
Chr10:48413661 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.*216G>T single nucleotide variant not provided [RCV001555349] Chr10:47326000 [GRCh38]
Chr10:48413362 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1063G>C (p.Glu355Gln) single nucleotide variant not provided [RCV001546665] Chr10:47325557 [GRCh38]
Chr10:48413805 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.714C>T (p.Asp238=) single nucleotide variant Cardiovascular phenotype [RCV003169130]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001397882] Chr10:47325208 [GRCh38]
Chr10:48414154 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.73C>T (p.Leu25=) single nucleotide variant Cardiovascular phenotype [RCV003169464]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001516712] Chr10:47322741 [GRCh38]
Chr10:48416621 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_016204.4(GDF2):c.711C>T (p.Cys237=) single nucleotide variant Cardiovascular phenotype [RCV002372437]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV000867507] Chr10:47325205 [GRCh38]
Chr10:48414157 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1190A>G (p.Lys397Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002064560] Chr10:47325684 [GRCh38]
Chr10:48413678 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.314C>T (p.Ala105Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001220937] Chr10:47322982 [GRCh38]
Chr10:48416380 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.10:g.(?_48413568)_(48416703_?)dup duplication Telangiectasia, hereditary hemorrhagic, type 5 [RCV001031293] Chr10:48413568..48416703 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.346+90G>A single nucleotide variant not provided [RCV001621124] Chr10:47323104 [GRCh38]
Chr10:48416258 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.*305G>A single nucleotide variant not provided [RCV001558732] Chr10:47326089 [GRCh38]
Chr10:48413273 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3 copy number gain not provided [RCV002472913] Chr10:47062985..48769625 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.347-28A>G single nucleotide variant not provided [RCV001719628] Chr10:47324813 [GRCh38]
Chr10:48414549 [GRCh37]
Chr10:10q11.22
benign
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.930G>A (p.Ala310=) single nucleotide variant Cardiovascular phenotype [RCV002375196]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001218867] Chr10:47325424 [GRCh38]
Chr10:48413938 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NC_000010.10:g.(?_48370533)_(48438710_?)dup duplication not provided [RCV001033056] Chr10:48370533..48438710 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23
not provided
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.348T>C (p.Asp116=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001262087] Chr10:47324842 [GRCh38]
Chr10:48414520 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic|uncertain significance
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001285201] Chr10:47325411 [GRCh38]
Chr10:48413951 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NC_000010.10:g.(?_48413568)_(48416703_?)del deletion Telangiectasia, hereditary hemorrhagic, type 5 [RCV001305350] Chr10:48413568..48416703 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001353249] Chr10:47325569 [GRCh38]
Chr10:48413793 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1266C>T (p.Ser422=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001396573] Chr10:47325760 [GRCh38]
Chr10:48413602 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001369545] Chr10:47322757 [GRCh38]
Chr10:48416605 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001285682] Chr10:47322737 [GRCh38]
Chr10:48416625 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.252G>A (p.Glu84=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001336328] Chr10:47322920 [GRCh38]
Chr10:48416442 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_016204.4(GDF2):c.654C>T (p.Asp218=) single nucleotide variant Cardiovascular phenotype [RCV002368294]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001413872] Chr10:47325148 [GRCh38]
Chr10:48414214 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1125C>A (p.Ile375=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001496127] Chr10:47325619 [GRCh38]
Chr10:48413743 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1101T>C (p.Asp367=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001399925] Chr10:47325595 [GRCh38]
Chr10:48413767 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.126G>A (p.Gly42=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001471526] Chr10:47322794 [GRCh38]
Chr10:48416568 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.615G>A (p.Leu205=) single nucleotide variant Cardiovascular phenotype [RCV002359145]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001517038] Chr10:47325109 [GRCh38]
Chr10:48414253 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.936G>A (p.Ser312=) single nucleotide variant Cardiovascular phenotype [RCV002377811]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001474630] Chr10:47325430 [GRCh38]
Chr10:48413932 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1005C>T (p.Asn335=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001493176] Chr10:47325499 [GRCh38]
Chr10:48413863 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.18G>A (p.Leu6=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001478421] Chr10:47322686 [GRCh38]
Chr10:48416676 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.198C>T (p.Phe66=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001431600] Chr10:47322866 [GRCh38]
Chr10:48416496 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.774C>T (p.Ser258=) single nucleotide variant Cardiovascular phenotype [RCV002413930]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001393934] Chr10:47325268 [GRCh38]
Chr10:48414094 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.900C>T (p.His300=) single nucleotide variant Cardiovascular phenotype [RCV003160795]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001445660] Chr10:47325394 [GRCh38]
Chr10:48413968 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.315G>A (p.Ala105=) single nucleotide variant Cardiovascular phenotype [RCV002324084]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001487464] Chr10:47322983 [GRCh38]
Chr10:48416379 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.933G>A (p.Gly311=) single nucleotide variant Cardiovascular phenotype [RCV002377776]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001460754] Chr10:47325427 [GRCh38]
Chr10:48413935 [GRCh37]
Chr10:10q11.22
likely benign
NC_000010.11:g.47322283T>A single nucleotide variant not provided [RCV001590616] Chr10:47322283 [GRCh38]
Chr10:48417079 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1104G>A (p.Val368=) single nucleotide variant Cardiovascular phenotype [RCV002432324]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001473795] Chr10:47325598 [GRCh38]
Chr10:48413764 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.69G>A (p.Lys23=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001457309] Chr10:47322737 [GRCh38]
Chr10:48416625 [GRCh37]
Chr10:10q11.22
likely benign
NC_000010.10:g.(?_48370533)_(48438710_?)del deletion not provided [RCV001385467] Chr10:48370533..48438710 [GRCh37]
Chr10:10q11.22
pathogenic
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup) duplication Telangiectasia, hereditary hemorrhagic, type 5 [RCV001436655] Chr10:47322699..47322700 [GRCh38]
Chr10:48416645..48416646 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.303G>A (p.Ser101=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001461819] Chr10:47322971 [GRCh38]
Chr10:48416391 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1233G>A (p.Val411=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003104678] Chr10:47325727 [GRCh38]
Chr10:48413635 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22(chr10:48301643-48769625)x1 copy number loss not provided [RCV001833050] Chr10:48301643..48769625 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001802383] Chr10:47325234 [GRCh38]
Chr10:48414128 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002477976]|not provided [RCV001761491] Chr10:47325206 [GRCh38]
Chr10:48414156 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.455T>A (p.Leu152His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001803516] Chr10:47324949 [GRCh38]
Chr10:48414413 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.41C>G (p.Ser14Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001910972] Chr10:47322709 [GRCh38]
Chr10:48416653 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1162G>A (p.Val388Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001908382] Chr10:47325656 [GRCh38]
Chr10:48413706 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1135del (p.Leu379fs) deletion Telangiectasia, hereditary hemorrhagic, type 5 [RCV001910052] Chr10:47325627 [GRCh38]
Chr10:48413733 [GRCh37]
Chr10:10q11.22
pathogenic|uncertain significance
NC_000010.10:g.(?_48381905)_(48416693_?)dup duplication not provided [RCV002002944] Chr10:48381905..48416693 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.484C>A (p.Pro162Thr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001842245] Chr10:47324978 [GRCh38]
Chr10:48414384 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1243A>T (p.Lys415Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001911754] Chr10:47325737 [GRCh38]
Chr10:48413625 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.419C>T (p.Pro140Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001891467] Chr10:47324913 [GRCh38]
Chr10:48414449 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.346+19C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002104395] Chr10:47323033 [GRCh38]
Chr10:48416329 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.514A>G (p.Ile172Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001899271] Chr10:47325008 [GRCh38]
Chr10:48414354 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.825del (p.Met275fs) deletion Cardiovascular phenotype [RCV002425133]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV001901921] Chr10:47325319 [GRCh38]
Chr10:48414043 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001998670]|not provided [RCV003481233] Chr10:47322997 [GRCh38]
Chr10:48416365 [GRCh37]
Chr10:10q11.22
likely pathogenic
NM_016204.4(GDF2):c.10G>A (p.Gly4Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV001998683] Chr10:47322678 [GRCh38]
Chr10:48416684 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.244A>G (p.Arg82Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002192739] Chr10:47322912 [GRCh38]
Chr10:48416450 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.738A>G (p.Pro246=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002127204] Chr10:47325232 [GRCh38]
Chr10:48414130 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.861G>C (p.Leu287=) single nucleotide variant Cardiovascular phenotype [RCV002372851]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002189472] Chr10:47325355 [GRCh38]
Chr10:48414007 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.159C>T (p.Phe53=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002076091] Chr10:47322827 [GRCh38]
Chr10:48416535 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.960C>T (p.Ser320=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002108625] Chr10:47325454 [GRCh38]
Chr10:48413908 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.273C>T (p.Asp91=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002112515] Chr10:47322941 [GRCh38]
Chr10:48416421 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.687T>C (p.Thr229=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002097468] Chr10:47325181 [GRCh38]
Chr10:48414181 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.283A>C (p.Arg95=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002074988] Chr10:47322951 [GRCh38]
Chr10:48416411 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.627C>T (p.Ser209=) single nucleotide variant Cardiovascular phenotype [RCV002352934]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002171781] Chr10:47325121 [GRCh38]
Chr10:48414241 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.750C>T (p.Asn250=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002091567] Chr10:47325244 [GRCh38]
Chr10:48414118 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.717G>A (p.Thr239=) single nucleotide variant Cardiovascular phenotype [RCV002372912]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002116732] Chr10:47325211 [GRCh38]
Chr10:48414151 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.129G>T (p.Val43=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002218243] Chr10:47322797 [GRCh38]
Chr10:48416565 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.120A>C (p.Pro40=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002176993] Chr10:47322788 [GRCh38]
Chr10:48416574 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.903G>A (p.Glu301=) single nucleotide variant Cardiovascular phenotype [RCV002372913]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002103335] Chr10:47325397 [GRCh38]
Chr10:48413965 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1254C>T (p.Tyr418=) single nucleotide variant Cardiovascular phenotype [RCV002416423]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002098312] Chr10:47325748 [GRCh38]
Chr10:48413614 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.231G>A (p.Ser77=) single nucleotide variant Cardiovascular phenotype [RCV003161417]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002216857] Chr10:47322899 [GRCh38]
Chr10:48416463 [GRCh37]
Chr10:10q11.22
likely benign
NC_000010.10:g.(?_48381905)_(48416693_?)del deletion not provided [RCV003113149] Chr10:48381905..48416693 [GRCh37]
Chr10:10q11.22
pathogenic
NC_000010.10:g.(?_48413578)_(48416693_?)del deletion Telangiectasia, hereditary hemorrhagic, type 5 [RCV003119719] Chr10:48413578..48416693 [GRCh37]
Chr10:10q11.22
pathogenic
NM_016204.4(GDF2):c.833A>C (p.His278Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003131007] Chr10:47325327 [GRCh38]
Chr10:48414035 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.801G>T (p.Glu267Asp) single nucleotide variant not specified [RCV002247859] Chr10:47325295 [GRCh38]
Chr10:48414067 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.621G>C (p.Val207=) single nucleotide variant Cardiovascular phenotype [RCV002366520] Chr10:47325115 [GRCh38]
Chr10:48414247 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.540T>C (p.Asp180=) single nucleotide variant Cardiovascular phenotype [RCV002349424] Chr10:47325034 [GRCh38]
Chr10:48414328 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.554C>A (p.Ala185Asp) single nucleotide variant Pulmonary arterial hypertension [RCV002285236] Chr10:47325048 [GRCh38]
Chr10:48414314 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.663G>A (p.Lys221=) single nucleotide variant Cardiovascular phenotype [RCV002366788] Chr10:47325157 [GRCh38]
Chr10:48414205 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1146C>G (p.Leu382=) single nucleotide variant Cardiovascular phenotype [RCV002454839] Chr10:47325640 [GRCh38]
Chr10:48413722 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.675G>A (p.Lys225=) single nucleotide variant Cardiovascular phenotype [RCV002369260] Chr10:47325169 [GRCh38]
Chr10:48414193 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1125C>T (p.Ile375=) single nucleotide variant Cardiovascular phenotype [RCV002435876]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003111557] Chr10:47325619 [GRCh38]
Chr10:48413743 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.630C>T (p.Ala210=) single nucleotide variant Cardiovascular phenotype [RCV002368829]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003098197] Chr10:47325124 [GRCh38]
Chr10:48414238 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.987G>A (p.Lys329=) single nucleotide variant Cardiovascular phenotype [RCV002387380] Chr10:47325481 [GRCh38]
Chr10:48413881 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.537A>T (p.Thr179=) single nucleotide variant Cardiovascular phenotype [RCV002347098] Chr10:47325031 [GRCh38]
Chr10:48414331 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic|uncertain significance
NM_016204.4(GDF2):c.1074C>T (p.Gly358=) single nucleotide variant Cardiovascular phenotype [RCV002417301] Chr10:47325568 [GRCh38]
Chr10:48413794 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_016204.4(GDF2):c.1042C>A (p.Pro348Thr) single nucleotide variant Pulmonary arterial hypertension [RCV002468538] Chr10:47325536 [GRCh38]
Chr10:48413826 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_016204.4(GDF2):c.108C>T (p.Asn36=) single nucleotide variant Cardiovascular phenotype [RCV002445954]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741314] Chr10:47322776 [GRCh38]
Chr10:48416586 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.93G>T (p.Gly31=) single nucleotide variant Cardiovascular phenotype [RCV002373933] Chr10:47322761 [GRCh38]
Chr10:48416601 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.678G>A (p.Leu226=) single nucleotide variant Cardiovascular phenotype [RCV002369397] Chr10:47325172 [GRCh38]
Chr10:48414190 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.651C>T (p.Ser217=) single nucleotide variant Cardiovascular phenotype [RCV002364212]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003098278] Chr10:47325145 [GRCh38]
Chr10:48414217 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.255G>C (p.Pro85=) single nucleotide variant Cardiovascular phenotype [RCV002455853] Chr10:47322923 [GRCh38]
Chr10:48416439 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.291G>A (p.Thr97=) single nucleotide variant Cardiovascular phenotype [RCV002439935]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003581879] Chr10:47322959 [GRCh38]
Chr10:48416403 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.450C>T (p.Leu150=) single nucleotide variant Cardiovascular phenotype [RCV002339888] Chr10:47324944 [GRCh38]
Chr10:48414418 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.822G>A (p.Glu274=) single nucleotide variant Cardiovascular phenotype [RCV002428010] Chr10:47325316 [GRCh38]
Chr10:48414046 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.86del (p.Gly29fs) deletion Cardiovascular phenotype [RCV002449718] Chr10:47322751 [GRCh38]
Chr10:48416608 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.864C>T (p.Ser288=) single nucleotide variant Cardiovascular phenotype [RCV002371212]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003776522] Chr10:47325358 [GRCh38]
Chr10:48414004 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.657C>T (p.Ser219=) single nucleotide variant Cardiovascular phenotype [RCV002375778] Chr10:47325151 [GRCh38]
Chr10:48414211 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.852C>G (p.Leu284=) single nucleotide variant Cardiovascular phenotype [RCV002447794] Chr10:47325346 [GRCh38]
Chr10:48414016 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.858G>A (p.Lys286=) single nucleotide variant Cardiovascular phenotype [RCV002447926] Chr10:47325352 [GRCh38]
Chr10:48414010 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.513C>T (p.Val171=) single nucleotide variant Cardiovascular phenotype [RCV002338196] Chr10:47325007 [GRCh38]
Chr10:48414355 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.834T>C (p.His278=) single nucleotide variant Cardiovascular phenotype [RCV002434713] Chr10:47325328 [GRCh38]
Chr10:48414034 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.968C>T (p.Ala323Val) single nucleotide variant Cardiovascular phenotype [RCV002376576] Chr10:47325462 [GRCh38]
Chr10:48413900 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1095T>C (p.Ala365=) single nucleotide variant Cardiovascular phenotype [RCV002459553]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003101778] Chr10:47325589 [GRCh38]
Chr10:48413773 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.950G>A (p.Arg317Gln) single nucleotide variant Cardiovascular phenotype [RCV002374178]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003108068] Chr10:47325444 [GRCh38]
Chr10:48413918 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.921C>T (p.His307=) single nucleotide variant Cardiovascular phenotype [RCV002371281]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003581851] Chr10:47325415 [GRCh38]
Chr10:48413947 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.294C>T (p.Ser98=) single nucleotide variant Cardiovascular phenotype [RCV002441838]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003102911] Chr10:47322962 [GRCh38]
Chr10:48416400 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.486C>A (p.Pro162=) single nucleotide variant Cardiovascular phenotype [RCV002340397] Chr10:47324980 [GRCh38]
Chr10:48414382 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.705G>A (p.Lys235=) single nucleotide variant Cardiovascular phenotype [RCV002365029] Chr10:47325199 [GRCh38]
Chr10:48414163 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.729T>C (p.Ser243=) single nucleotide variant Cardiovascular phenotype [RCV002382742] Chr10:47325223 [GRCh38]
Chr10:48414139 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.45G>C (p.Leu15=) single nucleotide variant Cardiovascular phenotype [RCV002342367] Chr10:47322713 [GRCh38]
Chr10:48416649 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.996G>A (p.Leu332=) single nucleotide variant Cardiovascular phenotype [RCV002382983] Chr10:47325490 [GRCh38]
Chr10:48413872 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.997C>A (p.Arg333=) single nucleotide variant Cardiovascular phenotype [RCV002383006] Chr10:47325491 [GRCh38]
Chr10:48413871 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.804C>A (p.Thr268=) single nucleotide variant Cardiovascular phenotype [RCV002412445] Chr10:47325298 [GRCh38]
Chr10:48414064 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.453A>C (p.Arg151=) single nucleotide variant Cardiovascular phenotype [RCV002330310] Chr10:47324947 [GRCh38]
Chr10:48414415 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.529G>A (p.Asp177Asn) single nucleotide variant Cardiovascular phenotype [RCV002344564] Chr10:47325023 [GRCh38]
Chr10:48414339 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.444T>G (p.Ala148=) single nucleotide variant Cardiovascular phenotype [RCV002328349] Chr10:47324938 [GRCh38]
Chr10:48414424 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.72A>G (p.Pro24=) single nucleotide variant Cardiovascular phenotype [RCV002382748] Chr10:47322740 [GRCh38]
Chr10:48416622 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1206C>T (p.Ser402=) single nucleotide variant Cardiovascular phenotype [RCV002345152] Chr10:47325700 [GRCh38]
Chr10:48413662 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1101T>A (p.Asp367Glu) single nucleotide variant Cardiovascular phenotype [RCV002433086] Chr10:47325595 [GRCh38]
Chr10:48413767 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.153C>T (p.His51=) single nucleotide variant Cardiovascular phenotype [RCV002403123] Chr10:47322821 [GRCh38]
Chr10:48416541 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.207C>T (p.Ser69=) single nucleotide variant Cardiovascular phenotype [RCV002422281] Chr10:47322875 [GRCh38]
Chr10:48416487 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.717G>T (p.Thr239=) single nucleotide variant Cardiovascular phenotype [RCV002370724] Chr10:47325211 [GRCh38]
Chr10:48414151 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.832C>G (p.His278Asp) single nucleotide variant Cardiovascular phenotype [RCV002430453] Chr10:47325326 [GRCh38]
Chr10:48414036 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.998G>A (p.Arg333Gln) single nucleotide variant Cardiovascular phenotype [RCV002383039] Chr10:47325492 [GRCh38]
Chr10:48413870 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_016204.4(GDF2):c.134G>A (p.Gly45Glu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002996192] Chr10:47322802 [GRCh38]
Chr10:48416560 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.489T>G (p.Ser163=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002889682] Chr10:47324983 [GRCh38]
Chr10:48414379 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.309G>A (p.Thr103=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002885677] Chr10:47322977 [GRCh38]
Chr10:48416385 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.906G>A (p.Glu302=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002866567] Chr10:47325400 [GRCh38]
Chr10:48413962 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.882G>A (p.Glu294=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003005140] Chr10:47325376 [GRCh38]
Chr10:48413986 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.631G>A (p.Val211Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002595134] Chr10:47325125 [GRCh38]
Chr10:48414237 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.492T>C (p.His164=) single nucleotide variant Cardiovascular phenotype [RCV003170970]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003041282] Chr10:47324986 [GRCh38]
Chr10:48414376 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.768C>T (p.Val256=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002790501] Chr10:47325262 [GRCh38]
Chr10:48414100 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.303G>C (p.Ser101=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002664058] Chr10:47322971 [GRCh38]
Chr10:48416391 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1084T>C (p.Phe362Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002598714] Chr10:47325578 [GRCh38]
Chr10:48413784 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.961G>A (p.Ala321Thr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002899578] Chr10:47325455 [GRCh38]
Chr10:48413907 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.573C>T (p.Phe191=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003087805] Chr10:47325067 [GRCh38]
Chr10:48414295 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.311C>T (p.Pro104Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003067651] Chr10:47322979 [GRCh38]
Chr10:48416383 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.967G>A (p.Ala323Thr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003066933] Chr10:47325461 [GRCh38]
Chr10:48413901 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.258G>A (p.Pro86=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV002611209] Chr10:47322926 [GRCh38]
Chr10:48416436 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1119C>T (p.His373=) single nucleotide variant Cardiovascular phenotype [RCV003274115]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV002944148] Chr10:47325613 [GRCh38]
Chr10:48413749 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.135A>C (p.Gly45=) single nucleotide variant Cardiovascular phenotype [RCV003168248] Chr10:47322803 [GRCh38]
Chr10:48416559 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1184C>T (p.Pro395Leu) single nucleotide variant Cardiovascular phenotype [RCV003168249] Chr10:47325678 [GRCh38]
Chr10:48413684 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23
likely pathogenic
NM_016204.4(GDF2):c.879A>T (p.Thr293=) single nucleotide variant Cardiovascular phenotype [RCV003181608] Chr10:47325373 [GRCh38]
Chr10:48413989 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.177G>A (p.Leu59=) single nucleotide variant Cardiovascular phenotype [RCV003181609] Chr10:47322845 [GRCh38]
Chr10:48416517 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.489T>C (p.Ser163=) single nucleotide variant Cardiovascular phenotype [RCV003181610] Chr10:47324983 [GRCh38]
Chr10:48414379 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1044C>T (p.Pro348=) single nucleotide variant Cardiovascular phenotype [RCV003181611] Chr10:47325538 [GRCh38]
Chr10:48413824 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.735C>T (p.Pro245=) single nucleotide variant Cardiovascular phenotype [RCV003181612] Chr10:47325229 [GRCh38]
Chr10:48414133 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1042C>T (p.Pro348Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003135353] Chr10:47325536 [GRCh38]
Chr10:48413826 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.542C>A (p.Ala181Asp) single nucleotide variant Cardiovascular phenotype [RCV003168247] Chr10:47325036 [GRCh38]
Chr10:48414326 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1230G>T (p.Gly410=) single nucleotide variant Cardiovascular phenotype [RCV003214083] Chr10:47325724 [GRCh38]
Chr10:48413638 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_016204.4(GDF2):c.477C>T (p.His159=) single nucleotide variant Cardiovascular phenotype [RCV003305497] Chr10:47324971 [GRCh38]
Chr10:48414391 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_016204.4(GDF2):c.1062C>T (p.Tyr354=) single nucleotide variant Cardiovascular phenotype [RCV003380222] Chr10:47325556 [GRCh38]
Chr10:48413806 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1218G>A (p.Lys406=) single nucleotide variant Cardiovascular phenotype [RCV003380221] Chr10:47325712 [GRCh38]
Chr10:48413650 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.264C>T (p.Tyr88=) single nucleotide variant Cardiovascular phenotype [RCV003380223] Chr10:47322932 [GRCh38]
Chr10:48416430 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.451C>T (p.Arg151Ter) single nucleotide variant Inborn genetic diseases [RCV003375805]|Telangiectasia, hereditary hemorrhagic, type 5 [RCV003778033] Chr10:47324945 [GRCh38]
Chr10:48414417 [GRCh37]
Chr10:10q11.22
pathogenic|uncertain significance
NM_016204.4(GDF2):c.34C>G (p.Leu12Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003880879] Chr10:47322702 [GRCh38]
Chr10:48416660 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_016204.4(GDF2):c.550A>G (p.Ser184Gly) single nucleotide variant GDF2-related condition [RCV003404458] Chr10:47325044 [GRCh38]
Chr10:48414318 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.785G>A (p.Ser262Asn) single nucleotide variant not provided [RCV003417352] Chr10:47325279 [GRCh38]
Chr10:48414083 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.912G>A (p.Thr304=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003875917] Chr10:47325406 [GRCh38]
Chr10:48413956 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.41C>T (p.Ser14Phe) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003876739] Chr10:47322709 [GRCh38]
Chr10:48416653 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.347-5T>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741488] Chr10:47324836 [GRCh38]
Chr10:48414526 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.603C>A (p.Gly201=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741656] Chr10:47325097 [GRCh38]
Chr10:48414265 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.381C>G (p.Pro127=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741802] Chr10:47324875 [GRCh38]
Chr10:48414487 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1152C>T (p.Phe384=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003740673] Chr10:47325646 [GRCh38]
Chr10:48413716 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.846C>T (p.Ser282=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003740665] Chr10:47325340 [GRCh38]
Chr10:48414022 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.346+12G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003582064] Chr10:47323026 [GRCh38]
Chr10:48416336 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.486C>G (p.Pro162=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003742123] Chr10:47324980 [GRCh38]
Chr10:48414382 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.346+18A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003740743] Chr10:47323032 [GRCh38]
Chr10:48416330 [GRCh37]
Chr10:10q11.22
benign
NM_016204.4(GDF2):c.521A>T (p.Asp174Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003582330] Chr10:47325015 [GRCh38]
Chr10:48414347 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.879A>G (p.Thr293=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003742405] Chr10:47325373 [GRCh38]
Chr10:48413989 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.121C>G (p.Leu41Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741109] Chr10:47322789 [GRCh38]
Chr10:48416573 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.347-17G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003582599] Chr10:47324824 [GRCh38]
Chr10:48414538 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.464C>T (p.Ser155Phe) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003582661] Chr10:47324958 [GRCh38]
Chr10:48414404 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.808C>T (p.Leu270=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741771] Chr10:47325302 [GRCh38]
Chr10:48414060 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.97G>A (p.Ala33Thr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003581228] Chr10:47322765 [GRCh38]
Chr10:48416597 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.639C>T (p.Arg213=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003582828] Chr10:47325133 [GRCh38]
Chr10:48414229 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.346+17C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003740814] Chr10:47323031 [GRCh38]
Chr10:48416331 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.513C>A (p.Val171=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003815010] Chr10:47325007 [GRCh38]
Chr10:48414355 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.347-18C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003854594] Chr10:47324823 [GRCh38]
Chr10:48414539 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.346+11C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003740873] Chr10:47323025 [GRCh38]
Chr10:48416337 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.859C>T (p.Leu287=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741477] Chr10:47325353 [GRCh38]
Chr10:48414009 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.508G>A (p.Val170Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003582824] Chr10:47325002 [GRCh38]
Chr10:48414360 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003581405] Chr10:47325666 [GRCh38]
Chr10:48413696 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.124G>T (p.Gly42Trp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003740945] Chr10:47322792 [GRCh38]
Chr10:48416570 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.36G>A (p.Leu12=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003852603] Chr10:47322704 [GRCh38]
Chr10:48416658 [GRCh37]
Chr10:10q11.22
likely benign
NM_016204.4(GDF2):c.1185_1191delinsTG (p.Thr396fs) indel Telangiectasia, hereditary hemorrhagic, type 5 [RCV003741389] Chr10:47325679..47325685 [GRCh38]
Chr10:48413677..48413683 [GRCh37]
Chr10:10q11.22
pathogenic
NM_016204.4(GDF2):c.290C>G (p.Thr97Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003814019] Chr10:47322958 [GRCh38]
Chr10:48416404 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_016204.4(GDF2):c.857dup (p.Leu287fs) duplication Telangiectasia, hereditary hemorrhagic, type 5 [RCV003822058] Chr10:47325349..47325350 [GRCh38]
Chr10:48414010..48414011 [GRCh37]
Chr10:10q11.22
pathogenic
NM_016204.4(GDF2):c.641G>A (p.Trp214Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 5 [RCV003867907] Chr10:47325135 [GRCh38]
Chr10:48414227 [GRCh37]
Chr10:10q11.22
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:377
Count of miRNA genes:300
Interacting mature miRNAs:325
Transcripts:ENST00000249598
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
GDF2_330.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,413,084 - 48,413,818UniSTSGRCh37
Build 361048,033,090 - 48,033,824RGDNCBI36
Celera1044,836,990 - 44,837,724RGD
HuRef1043,165,539 - 43,166,273UniSTS


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 3 88 88 3 88
Low 38 163 163 13 163 4 12 6
Below cutoff 164 554 142 14 227 1 615 154 978 12 412 345 14 140 387 1

Sequence


RefSeq Acc Id: ENST00000581492   ⟹   ENSP00000463051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1047,322,454 - 47,327,588 (+)Ensembl
RefSeq Acc Id: NM_016204   ⟹   NP_057288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381047,322,454 - 47,327,588 (+)NCBI
GRCh371048,413,092 - 48,416,853 (-)ENTREZGENE
Build 361048,033,098 - 48,036,859 (-)NCBI Archive
HuRef1043,165,547 - 43,169,308 (-)ENTREZGENE
CHM1_11048,578,140 - 48,581,920 (-)NCBI
T2T-CHM13v2.01048,213,864 - 48,218,998 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057288   ⟸   NM_016204
- Peptide Label: preproprotein
- UniProtKB: Q5VSQ9 (UniProtKB/Swiss-Prot),   Q9Y571 (UniProtKB/Swiss-Prot),   Q9UK05 (UniProtKB/Swiss-Prot),   B2RC63 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000463051   ⟸   ENST00000581492
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UK05-F1-model_v2 AlphaFold Q9UK05 1-429 view protein structure

Promoters
RGD ID:7217471
Promoter ID:EPDNEW_H14480
Type:initiation region
Name:GDF2_1
Description:growth differentiation factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381047,322,446 - 47,322,506EPDNEW
RGD ID:6787723
Promoter ID:HG_KWN:9425
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_016204
Position:
Human AssemblyChrPosition (strand)Source
Build 361048,036,601 - 48,037,101 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4217 AgrOrtholog
COSMIC GDF2 COSMIC
Ensembl Genes ENSG00000263761 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000581492 ENTREZGENE
  ENST00000581492.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000263761 GTEx
HGNC ID HGNC:4217 ENTREZGENE
Human Proteome Map GDF2 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2658 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2658 ENTREZGENE
OMIM 605120 OMIM
PANTHER GROWTH/DIFFERENTIATION FACTOR 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28632 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 B2RC63 ENTREZGENE, UniProtKB/TrEMBL
  GDF2_HUMAN UniProtKB/Swiss-Prot
  Q5VSQ9 ENTREZGENE
  Q9UK05 ENTREZGENE
  Q9Y571 ENTREZGENE
UniProt Secondary Q5VSQ9 UniProtKB/Swiss-Prot
  Q9Y571 UniProtKB/Swiss-Prot