TPO (thyroid peroxidase) - Rat Genome Database

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Gene: TPO (thyroid peroxidase) Homo sapiens
Analyze
Symbol: TPO
Name: thyroid peroxidase
RGD ID: 735786
HGNC Page HGNC:12015
Description: Predicted to enable peroxidase activity. Involved in embryonic hemopoiesis. Located in extracellular space. Implicated in congenital hypothyroidism; glomerulonephritis; and thyroid dyshormonogenesis 2A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MSA; TDH2A; thyroid microsomal antigen; thyroperoxidase; TPX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: TPO (Gene ID: 7173) and THPO (Gene ID: 7066) share the TPO symbol/alias in common. TPO is a widely used alternative name for thrombopoietin (THPO), which can be confused with the official symbol for TPO, thyroid peroxidase. [27 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3821,374,047 - 1,543,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl21,374,066 - 1,543,711 (+)EnsemblGRCh38hg38GRCh38
GRCh3721,417,235 - 1,547,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3621,396,242 - 1,525,502 (+)NCBINCBI36Build 36hg18NCBI36
Build 3421,396,241 - 1,525,502NCBI
Celera21,466,953 - 1,592,423 (+)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef21,408,795 - 1,531,941 (+)NCBIHuRef
CHM1_121,409,624 - 1,546,343 (+)NCBICHM1_1
T2T-CHM13v2.021,414,928 - 1,549,090 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (ISO)
1,3-benzothiazole-2-thiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,4-Dihydroxybenzophenone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-Aminophenyl ether  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (EXP,ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP,ISO)
amitrole  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
bathocuproine disulfonic acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
benzophenone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylparaben  (ISO)
C60 fullerene  (ISO)
carbaryl  (EXP)
CGP 52608  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
daidzein  (EXP,ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (EXP)
dibutyl phthalate  (EXP)
doxorubicin  (EXP)
efavirenz  (EXP)
Ethylenethiourea  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
glutathione  (EXP)
glyphosate  (ISO)
iodide salt  (EXP)
isoniazide  (ISO)
isoprenaline  (ISO)
mancozeb  (ISO)
methapyrilene  (EXP)
methimazole  (EXP,ISO)
minocycline  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
nevirapine  (EXP)
nitrogen dioxide  (EXP)
o-anisidine  (ISO)
oxymetholone  (EXP)
ozone  (EXP)
perchlorate  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
potassium iodide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
pyridine-2,3-diol  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
resorcinol  (EXP,ISO)
resveratrol  (ISO)
salicylhydroxamic acid  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
silver(1+) nitrate  (EXP)
sodium azide  (ISO)
sodium iodide  (EXP)
sodium nitrate  (ISO)
sodium perchlorate  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP)
thyroxine  (ISO)
triclocarban  (ISO)
triclosan  (EXP,ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vinclozolin  (EXP)
vorinostat  (EXP)
zineb  (EXP)
ziram  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Bikker H, etal., Hum Mutat. 1995;6(1):9-16.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Pretransplant positivity for circulating thyroid antibodies and graft survival in patients undergoing kidney transplant. Rotondi M, etal., Horm Res. 2009;71(6):324-30. doi: 10.1159/000223416. Epub 2009 Jun 6.
11. Increased prevalence of thyroid peroxidase antibodies (TPO-Ab) in women with glomerulonephritis. Westman KW, etal., Nephrol Dial Transplant. 1993;8(5):402-6.
Additional References at PubMed
PMID:67547   PMID:1401057   PMID:1722671   PMID:2308857   PMID:2383265   PMID:2548579   PMID:3153466   PMID:3453124   PMID:3475693   PMID:3654979   PMID:7759120   PMID:8027236  
PMID:8196171   PMID:8964831   PMID:9024270   PMID:9814507   PMID:9924196   PMID:10084596   PMID:10468986   PMID:10487692   PMID:10748076   PMID:11061528   PMID:11238503   PMID:11327880  
PMID:11415848   PMID:11874711   PMID:11916616   PMID:12135610   PMID:12213873   PMID:12454013   PMID:12459031   PMID:12477932   PMID:12490071   PMID:12501244   PMID:12593722   PMID:12709678  
PMID:12820316   PMID:12843174   PMID:12864797   PMID:12938097   PMID:12960013   PMID:14751036   PMID:15062578   PMID:15150267   PMID:15196594   PMID:15203218   PMID:15317218   PMID:15497454  
PMID:15561711   PMID:15562032   PMID:15590661   PMID:15613581   PMID:15745925   PMID:15761037   PMID:16284446   PMID:16344560   PMID:16478776   PMID:16614712   PMID:16684826   PMID:16756464  
PMID:16868133   PMID:16959834   PMID:17042691   PMID:17334650   PMID:17381485   PMID:17468186   PMID:17547680   PMID:17696828   PMID:17845204   PMID:17854396   PMID:17902201   PMID:18029348  
PMID:18029453   PMID:18271683   PMID:18509003   PMID:18631006   PMID:18657294   PMID:18710471   PMID:19189706   PMID:19194833   PMID:19225535   PMID:19243353   PMID:19420105   PMID:19605678  
PMID:19669106   PMID:19730683   PMID:19799084   PMID:19948975   PMID:19952225   PMID:19960894   PMID:20036902   PMID:20101889   PMID:20153806   PMID:20182447   PMID:20237496   PMID:20379614  
PMID:20573721   PMID:20800603   PMID:20826581   PMID:20963560   PMID:21149635   PMID:21490078   PMID:21707688   PMID:21873635   PMID:21981063   PMID:22093430   PMID:22149743   PMID:22259066  
PMID:22326521   PMID:22387573   PMID:22435912   PMID:22664934   PMID:22947910   PMID:23236987   PMID:23329183   PMID:23512414   PMID:23668778   PMID:23672306   PMID:23754668   PMID:23985426  
PMID:24057177   PMID:24085601   PMID:24158420   PMID:24420335   PMID:24554482   PMID:24586183   PMID:24717978   PMID:24722205   PMID:24735383   PMID:24745015   PMID:25241611   PMID:25250329  
PMID:25306702   PMID:25328990   PMID:25564141   PMID:25576858   PMID:25968604   PMID:26070305   PMID:26174974   PMID:26361424   PMID:26623656   PMID:26663066   PMID:26777044   PMID:26894573  
PMID:27011366   PMID:27123460   PMID:27135621   PMID:27173810   PMID:27268232   PMID:27305979   PMID:27525530   PMID:27829681   PMID:28277109   PMID:28500830   PMID:28502155   PMID:28575127  
PMID:28845025   PMID:29320567   PMID:29513734   PMID:30675759   PMID:30915365   PMID:31241443   PMID:31585887   PMID:31777257   PMID:31867598   PMID:32022847   PMID:32088313   PMID:32424871  
PMID:32669082   PMID:33368191   PMID:34128397   PMID:34896620   PMID:35002963   PMID:35256895   PMID:35507000   PMID:36537574   PMID:36542322   PMID:36737753   PMID:36989526   PMID:37407700  
PMID:37780999  


Genomics

Comparative Map Data
TPO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3821,374,047 - 1,543,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl21,374,066 - 1,543,711 (+)EnsemblGRCh38hg38GRCh38
GRCh3721,417,235 - 1,547,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3621,396,242 - 1,525,502 (+)NCBINCBI36Build 36hg18NCBI36
Build 3421,396,241 - 1,525,502NCBI
Celera21,466,953 - 1,592,423 (+)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef21,408,795 - 1,531,941 (+)NCBIHuRef
CHM1_121,409,624 - 1,546,343 (+)NCBICHM1_1
T2T-CHM13v2.021,414,928 - 1,549,090 (+)NCBIT2T-CHM13v2.0
Tpo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391230,104,658 - 30,182,983 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1230,104,658 - 30,182,623 (-)EnsemblGRCm39 Ensembl
GRCm381230,054,659 - 30,132,984 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1230,054,659 - 30,132,624 (-)EnsemblGRCm38mm10GRCm38
MGSCv371230,739,526 - 30,817,474 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361230,640,713 - 30,718,661 (-)NCBIMGSCv36mm8
Celera1231,518,105 - 31,587,543 (-)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1213.0NCBI
Tpo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8652,425,998 - 52,495,793 (-)NCBIGRCr8
mRatBN7.2646,698,402 - 46,768,199 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl646,698,414 - 46,768,199 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx647,003,424 - 47,073,172 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0647,318,282 - 47,388,031 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0646,753,566 - 46,823,319 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0649,020,918 - 49,089,855 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl649,021,044 - 49,089,855 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0657,702,091 - 57,770,914 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4647,954,848 - 48,025,740 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1647,957,973 - 48,028,866 (-)NCBI
Celera645,906,515 - 45,971,940 (-)NCBICelera
RH 3.4 Map6299.2RGD
Cytogenetic Map6q16NCBI
Tpo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955487494,746 - 529,416 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955487485,029 - 530,287 (-)NCBIChiLan1.0ChiLan1.0
TPO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212125,044,194 - 125,171,557 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A125,048,171 - 125,175,534 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A1,364,083 - 1,491,284 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A1,334,608 - 1,493,308 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A1,335,556 - 1,493,055 (+)Ensemblpanpan1.1panPan2
TPO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.117773,790 - 810,044 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl17773,790 - 810,043 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha17760,899 - 796,526 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.017830,903 - 866,744 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl17831,063 - 866,737 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.117755,185 - 790,848 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.017775,417 - 811,064 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.017775,279 - 810,948 (+)NCBIUU_Cfam_GSD_1.0
Tpo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629245,635,285 - 45,680,483 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936532390,327 - 429,386 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936532391,181 - 435,132 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3132,384,583 - 132,409,208 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13132,384,677 - 132,409,750 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23141,795,655 - 141,820,693 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TPO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114106,148,214 - 106,255,442 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl14106,146,946 - 106,255,298 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660455,734,964 - 5,848,587 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tpo
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248461,934,469 - 1,961,291 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248461,934,084 - 1,962,637 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TPO
676 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
TPO, 4-BP INS, NT1227 insertion Deficiency of iodide peroxidase [RCV000004255] Chr2:2p25 pathogenic
TPO, 20-BP DUP duplication Deficiency of iodide peroxidase [RCV000004256] Chr2:2p25 pathogenic
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter) single nucleotide variant Deficiency of iodide peroxidase [RCV000004257]|not provided [RCV001008658] Chr2:1487841 [GRCh38]
Chr2:1491613 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe) single nucleotide variant Deficiency of iodide peroxidase [RCV000004258] Chr2:1484596 [GRCh38]
Chr2:1488368 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) single nucleotide variant Deficiency of iodide peroxidase [RCV000004259]|not provided [RCV000493931] Chr2:1484614 [GRCh38]
Chr2:1488386 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV000004260] Chr2:1487991 [GRCh38]
Chr2:1491763 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) single nucleotide variant Deficiency of iodide peroxidase [RCV000004261]|not provided [RCV001815161] Chr2:1503956 [GRCh38]
Chr2:1507728 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) duplication Deficiency of iodide peroxidase [RCV000004262]|not provided [RCV003441703] Chr2:1503975..1503976 [GRCh38]
Chr2:1507747..1507748 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV000004263]|not provided [RCV003555911] Chr2:1493976 [GRCh38]
Chr2:1497748 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2512del (p.Cys838fs) deletion Deficiency of iodide peroxidase [RCV000004264] Chr2:1504073 [GRCh38]
Chr2:1507845 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) duplication Deficiency of iodide peroxidase [RCV000004265]|not provided [RCV001008716] Chr2:1496646..1496647 [GRCh38]
Chr2:1500418..1500419 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp) single nucleotide variant Deficiency of iodide peroxidase [RCV000004266]|not specified [RCV003330383] Chr2:1496059 [GRCh38]
Chr2:1499831 [GRCh37]
Chr2:2p25.3		 pathogenic|uncertain significance
NM_001206744.2(TPO):c.1496del (p.Pro499fs) deletion Deficiency of iodide peroxidase [RCV000004267] Chr2:1484751 [GRCh38]
Chr2:1488523 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) single nucleotide variant Deficiency of iodide peroxidase [RCV000004268]|not provided [RCV000440090] Chr2:1494011 [GRCh38]
Chr2:1497783 [GRCh37]
Chr2:2p25.3		 pathogenic|likely pathogenic
NM_001206744.2(TPO):c.1955dup (p.Phe653fs) duplication Deficiency of iodide peroxidase [RCV000004269]|not provided [RCV001008815] Chr2:1493987..1493988 [GRCh38]
Chr2:1497759..1497760 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1336C>G (p.Gln446Glu) single nucleotide variant not provided [RCV003321327] Chr2:1477602 [GRCh38]
Chr2:1481374 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_000547.5(TPO):c.1597+892G>T single nucleotide variant Lung cancer [RCV000091543] Chr2:1485746 [GRCh38]
Chr2:1489518 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_000547.5(TPO):c.2386+1971C>G single nucleotide variant Lung cancer [RCV000091548] Chr2:1498736 [GRCh38]
Chr2:1502508 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:1159921-1491401)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052117]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052117]|See cases [RCV000052117] Chr2:1159921..1491401 [GRCh38]
Chr2:1155607..1495173 [GRCh37]
Chr2:1145607..1474180 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 copy number gain See cases [RCV000052932] Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p25.3(chr2:694400-1433587)x3 copy number gain See cases [RCV000052596] Chr2:694400..1433587 [GRCh38]
Chr2:694400..1437359 [GRCh37]
Chr2:684400..1416366 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:1110952-1699889)x3 copy number gain See cases [RCV000052598] Chr2:1110952..1699889 [GRCh38]
Chr2:1106638..1703661 [GRCh37]
Chr2:1096638..1682668 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:50661-3293835)x1 copy number loss See cases [RCV000053977] Chr2:50661..3293835 [GRCh38]
Chr2:50661..3297606 [GRCh37]
Chr2:40661..3276613 [NCBI36]
Chr2:2p25.3		 pathogenic
NM_000547.5(TPO):c.82G>A (p.Glu28Lys) single nucleotide variant Malignant melanoma [RCV000060331] Chr2:1414490 [GRCh38]
Chr2:1418262 [GRCh37]
Chr2:1397269 [NCBI36]
Chr2:2p25.3		 not provided
NM_000547.5(TPO):c.2142C>T (p.Phe714=) single nucleotide variant Malignant melanoma [RCV000060346] Chr2:1496124 [GRCh38]
Chr2:1499896 [GRCh37]
Chr2:1478903 [NCBI36]
Chr2:2p25.3		 not provided
NM_001206744.2(TPO):c.2488G>A (p.Glu830Lys) single nucleotide variant Deficiency of iodide peroxidase [RCV000365903] Chr2:1504049 [GRCh38]
Chr2:1507821 [GRCh37]
Chr2:1486828 [NCBI36]
Chr2:2p25.3		 uncertain significance|not provided
NM_001206744.2(TPO):c.1566T>A (p.Ala522=) single nucleotide variant Congenital hypothyroidism [RCV000363090]|not provided [RCV003688842] Chr2:1484823 [GRCh38]
Chr2:1488595 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3 copy number gain See cases [RCV000133936] Chr2:30341..4932359 [GRCh38]
Chr2:30341..4979949 [GRCh37]
Chr2:20341..4957824 [NCBI36]
Chr2:2p25.3-25.2		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-1969402)x1 copy number loss See cases [RCV000135569] Chr2:30341..1969402 [GRCh38]
Chr2:30341..1973174 [GRCh37]
Chr2:20341..1952181 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-3449132)x1 copy number loss See cases [RCV000135536] Chr2:30341..3449132 [GRCh38]
Chr2:30341..3452903 [GRCh37]
Chr2:20341..3431910 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:888150-1491401)x3 copy number gain See cases [RCV000136993] Chr2:888150..1491401 [GRCh38]
Chr2:883836..1495173 [GRCh37]
Chr2:873836..1474180 [NCBI36]
Chr2:2p25.3		 benign
GRCh38/hg38 2p25.3(chr2:39193-1542734)x1 copy number loss See cases [RCV000136750] Chr2:39193..1542734 [GRCh38]
Chr2:39193..1546506 [GRCh37]
Chr2:29193..1525513 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-2656139)x1 copy number loss See cases [RCV000137250] Chr2:30341..2656139 [GRCh38]
Chr2:30341..2659911 [GRCh37]
Chr2:20341..2638918 [NCBI36]
Chr2:2p25.3		 pathogenic|likely benign
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:17019-1645317)x1 copy number loss See cases [RCV000137954] Chr2:17019..1645317 [GRCh38]
Chr2:17019..1649089 [GRCh37]
Chr2:7019..1628096 [NCBI36]
Chr2:2p25.3		 likely pathogenic
GRCh38/hg38 2p25.3(chr2:1438270-1504110)x3 copy number gain See cases [RCV000140126] Chr2:1438270..1504110 [GRCh38]
Chr2:1442042..1507882 [GRCh37]
Chr2:1421049..1486889 [NCBI36]
Chr2:2p25.3		 benign
GRCh38/hg38 2p25.3(chr2:17019-2305267)x1 copy number loss See cases [RCV000141392] Chr2:17019..2305267 [GRCh38]
Chr2:17019..2309039 [GRCh37]
Chr2:7019..2288046 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:1110952-1714227)x3 copy number gain See cases [RCV000141323] Chr2:1110952..1714227 [GRCh38]
Chr2:1106638..1717999 [GRCh37]
Chr2:1096638..1697006 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-2310816)x1 copy number loss See cases [RCV000140900] Chr2:12770..2310816 [GRCh38]
Chr2:12770..2314588 [GRCh37]
Chr2:2770..2293595 [NCBI36]
Chr2:2p25.3		 likely pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3 copy number gain See cases [RCV000140981] Chr2:17019..4957745 [GRCh38]
Chr2:17019..5005335 [GRCh37]
Chr2:7019..4983210 [NCBI36]
Chr2:2p25.3-25.2		 likely pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-2748672)x1 copy number loss See cases [RCV000141849] Chr2:12770..2748672 [GRCh38]
Chr2:12770..2752444 [GRCh37]
Chr2:2770..2731451 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:888150-1784776)x3 copy number gain See cases [RCV000141613] Chr2:888150..1784776 [GRCh38]
Chr2:883836..1788548 [GRCh37]
Chr2:873836..1767555 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:1413693-1519167)x4 copy number gain See cases [RCV000142248] Chr2:1413693..1519167 [GRCh38]
Chr2:1417465..1522939 [GRCh37]
Chr2:1396472..1501946 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:131730-2713517)x1 copy number loss See cases [RCV000142884] Chr2:131730..2713517 [GRCh38]
Chr2:131730..2717289 [GRCh37]
Chr2:121730..2696296 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3 copy number gain See cases [RCV000142735] Chr2:30341..4642399 [GRCh38]
Chr2:30341..4689989 [GRCh37]
Chr2:20341..4667864 [NCBI36]
Chr2:2p25.3-25.2		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-4318861)x3 copy number gain See cases [RCV000143781] Chr2:12770..4318861 [GRCh38]
Chr2:12770..4366451 [GRCh37]
Chr2:2770..4344326 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_001206744.2(TPO):c.1899T>C (p.Asp633=) single nucleotide variant Deficiency of iodide peroxidase [RCV000407487]|not provided [RCV003574752] Chr2:1493932 [GRCh38]
Chr2:1497704 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.840G>A (p.Pro280=) single nucleotide variant Deficiency of iodide peroxidase [RCV000407445]|not provided [RCV000969985] Chr2:1477106 [GRCh38]
Chr2:1480878 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.2007-9_2007-7del deletion Congenital hypothyroidism [RCV000407522]|not provided [RCV003718200] Chr2:1495978..1495980 [GRCh38]
Chr2:1499750..1499752 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.*124G>C single nucleotide variant Deficiency of iodide peroxidase [RCV000264979] Chr2:1542598 [GRCh38]
Chr2:1546370 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.443C>T (p.Ala148Val) single nucleotide variant Deficiency of iodide peroxidase [RCV000390899] Chr2:1436345 [GRCh38]
Chr2:1440117 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.759C>T (p.Phe253=) single nucleotide variant Deficiency of iodide peroxidase [RCV000400589]|not provided [RCV003718199] Chr2:1456222 [GRCh38]
Chr2:1459994 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2436G>A (p.Ala812=) single nucleotide variant Deficiency of iodide peroxidase [RCV000401711]|not provided [RCV003718205] Chr2:1503997 [GRCh38]
Chr2:1507769 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2717C>T (p.Pro906Leu) single nucleotide variant Deficiency of iodide peroxidase [RCV000405975]|not provided [RCV000880578] Chr2:1540692 [GRCh38]
Chr2:1544464 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1852G>A (p.Val618Met) single nucleotide variant Deficiency of iodide peroxidase [RCV000297464]|not provided [RCV001709602] Chr2:1493885 [GRCh38]
Chr2:1497657 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.1032C>G (p.Thr344=) single nucleotide variant Deficiency of iodide peroxidase [RCV000298234]|not provided [RCV000955904] Chr2:1477298 [GRCh38]
Chr2:1481070 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2499C>T (p.Asp833=) single nucleotide variant Deficiency of iodide peroxidase [RCV000272954]|TPO-related condition [RCV003912393]|not provided [RCV000963789] Chr2:1504060 [GRCh38]
Chr2:1507832 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.2212C>G (p.Gln738Glu) single nucleotide variant Deficiency of iodide peroxidase [RCV000274598]|Inborn genetic diseases [RCV002521299]|not provided [RCV003546534] Chr2:1496194 [GRCh38]
Chr2:1499966 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1317G>A (p.Lys439=) single nucleotide variant Deficiency of iodide peroxidase [RCV000275870]|not provided [RCV000966288] Chr2:1477583 [GRCh38]
Chr2:1481355 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.2538G>C (p.Arg846=) single nucleotide variant Deficiency of iodide peroxidase [RCV000276405]|not provided [RCV003556349] Chr2:1516902 [GRCh38]
Chr2:1520674 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1728G>A (p.Ala576=) single nucleotide variant Deficiency of iodide peroxidase [RCV000287417]|not provided [RCV003678993] Chr2:1487951 [GRCh38]
Chr2:1491723 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.491C>A (p.Pro164His) single nucleotide variant Deficiency of iodide peroxidase [RCV000287970] Chr2:1453702 [GRCh38]
Chr2:1457474 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.180-6C>A single nucleotide variant Deficiency of iodide peroxidase [RCV000279774]|not provided [RCV003678992] Chr2:1433432 [GRCh38]
Chr2:1437204 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2286C>T (p.Arg762=) single nucleotide variant Deficiency of iodide peroxidase [RCV000280633]|not provided [RCV003718204] Chr2:1496665 [GRCh38]
Chr2:1500437 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.612+15C>T single nucleotide variant Deficiency of iodide peroxidase [RCV000291336]|not provided [RCV003765917] Chr2:1453838 [GRCh38]
Chr2:1457610 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.30G>A (p.Thr10=) single nucleotide variant Deficiency of iodide peroxidase [RCV000283065]|not provided [RCV000970598]|not specified [RCV000502489] Chr2:1414438 [GRCh38]
Chr2:1418210 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.9G>A (p.Ala3=) single nucleotide variant Deficiency of iodide peroxidase [RCV000272315]|not provided [RCV000881097] Chr2:1414417 [GRCh38]
Chr2:1418189 [GRCh37]
Chr2:2p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.12C>T (p.Leu4=) single nucleotide variant Deficiency of iodide peroxidase [RCV000377691]|not provided [RCV000933470] Chr2:1414420 [GRCh38]
Chr2:1418192 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.95-4G>A single nucleotide variant Deficiency of iodide peroxidase [RCV000378917]|not provided [RCV000906701] Chr2:1423041 [GRCh38]
Chr2:1426813 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.612G>A (p.Pro204=) single nucleotide variant Deficiency of iodide peroxidase [RCV000383448] Chr2:1453823 [GRCh38]
Chr2:1457595 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2241C>T (p.Ser747=) single nucleotide variant Deficiency of iodide peroxidase [RCV000374894]|not provided [RCV003718203] Chr2:1496620 [GRCh38]
Chr2:1500392 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg) single nucleotide variant Deficiency of iodide peroxidase [RCV000363957]|not provided [RCV003221929] Chr2:1516888 [GRCh38]
Chr2:1520660 [GRCh37]
Chr2:2p25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.2116A>G (p.Met706Val) single nucleotide variant Deficiency of iodide peroxidase [RCV000364135]|not provided [RCV003718201] Chr2:1496098 [GRCh38]
Chr2:1499870 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.524G>A (p.Arg175Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV000326567]|not provided [RCV003556348] Chr2:1453735 [GRCh38]
Chr2:1457507 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) single nucleotide variant Deficiency of iodide peroxidase [RCV002243926]|not provided [RCV002255143]|not specified [RCV000238605] Chr2:1484729 [GRCh38]
Chr2:1488501 [GRCh37]
Chr2:2p25.3		 pathogenic|uncertain significance
NM_001206744.2(TPO):c.2215+5A>C single nucleotide variant Deficiency of iodide peroxidase [RCV000329633]|not provided [RCV003718202] Chr2:1496202 [GRCh38]
Chr2:1499974 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2500G>A (p.Asp834Asn) single nucleotide variant Deficiency of iodide peroxidase [RCV000306983] Chr2:1504061 [GRCh38]
Chr2:1507833 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2749-4G>A single nucleotide variant Deficiency of iodide peroxidase [RCV000308541]|not provided [RCV000970070]|not specified [RCV001699461] Chr2:1542417 [GRCh38]
Chr2:1546189 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.404C>A (p.Pro135His) single nucleotide variant Deficiency of iodide peroxidase [RCV000334710]|TPO-related condition [RCV003912392]|not provided [RCV000915748] Chr2:1436306 [GRCh38]
Chr2:1440078 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV000339355]|Hypothyroidism due to TSH receptor mutations [RCV002272212]|TPO-related condition [RCV003418047] Chr2:1456113 [GRCh38]
Chr2:1459885 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.819A>G (p.Gln273=) single nucleotide variant Deficiency of iodide peroxidase [RCV000342587] Chr2:1456282 [GRCh38]
Chr2:1460054 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.94+13C>T single nucleotide variant Deficiency of iodide peroxidase [RCV000342715]|not provided [RCV003765916] Chr2:1414515 [GRCh38]
Chr2:1418287 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1857C>G (p.Ala619=) single nucleotide variant Deficiency of iodide peroxidase [RCV000342989]|TPO-related condition [RCV003910278]|not provided [RCV000950376] Chr2:1493890 [GRCh38]
Chr2:1497662 [GRCh37]
Chr2:2p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.2306G>A (p.Arg769Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV000317067] Chr2:1496685 [GRCh38]
Chr2:1500457 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2387-12T>C single nucleotide variant Deficiency of iodide peroxidase [RCV000341527]|not provided [RCV003765919] Chr2:1503936 [GRCh38]
Chr2:1507708 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.2007-5T>C single nucleotide variant Deficiency of iodide peroxidase [RCV000309490]|not provided [RCV000919126] Chr2:1495984 [GRCh38]
Chr2:1499756 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2703C>T (p.Ala901=) single nucleotide variant Deficiency of iodide peroxidase [RCV000352795]|not provided [RCV000914442] Chr2:1540678 [GRCh38]
Chr2:1544450 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2242G>A (p.Val748Met) single nucleotide variant Deficiency of iodide peroxidase [RCV001128708]|not provided [RCV000971173]|not specified [RCV000243535] Chr2:1496621 [GRCh38]
Chr2:1500393 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.660C>T (p.Val220=) single nucleotide variant Deficiency of iodide peroxidase [RCV001135577]|not provided [RCV000888272]|not specified [RCV000243633] Chr2:1456123 [GRCh38]
Chr2:1459895 [GRCh37]
Chr2:2p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.2540T>C (p.Val847Ala) single nucleotide variant Deficiency of iodide peroxidase [RCV000610621]|not provided [RCV001707576]|not specified [RCV000253477] Chr2:1516904 [GRCh38]
Chr2:1520676 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.769G>T (p.Ala257Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV000604358]|not provided [RCV001682984]|not specified [RCV000248792] Chr2:1456232 [GRCh38]
Chr2:1460004 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro) single nucleotide variant Deficiency of iodide peroxidase [RCV000601008]|not provided [RCV003669118]|not specified [RCV000251285] Chr2:1496155 [GRCh38]
Chr2:1499927 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2145C>T (p.Pro715=) single nucleotide variant Deficiency of iodide peroxidase [RCV000611338]|not provided [RCV003669117]|not specified [RCV000246542] Chr2:1496127 [GRCh38]
Chr2:1499899 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2006+20G>A single nucleotide variant not provided [RCV001651137]|not specified [RCV000244621] Chr2:1494059 [GRCh38]
Chr2:1497831 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1151154-1500627)x1 copy number loss See cases [RCV000240215] Chr2:1151154..1500627 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.12C>G (p.Leu4=) single nucleotide variant Deficiency of iodide peroxidase [RCV000609798]|not provided [RCV001711550]|not specified [RCV000247664] Chr2:1414420 [GRCh38]
Chr2:1418192 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.1193G>C (p.Ser398Thr) single nucleotide variant Deficiency of iodide peroxidase [RCV000616648]|not provided [RCV003660769]|not specified [RCV000242879] Chr2:1477459 [GRCh38]
Chr2:1481231 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1998C>T (p.Asp666=) single nucleotide variant Deficiency of iodide peroxidase [RCV000604208]|not provided [RCV003669116]|not specified [RCV000252817] Chr2:1494031 [GRCh38]
Chr2:1497803 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2387-17C>T single nucleotide variant not provided [RCV003727642]|not specified [RCV000248276] Chr2:1503931 [GRCh38]
Chr2:1507703 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1117G>T (p.Ala373Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV000611495]|not provided [RCV003660768]|not specified [RCV000250722] Chr2:1477383 [GRCh38]
Chr2:1481155 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.*115G>T single nucleotide variant Deficiency of iodide peroxidase [RCV000359331]|not provided [RCV001613075] Chr2:1542589 [GRCh38]
Chr2:1546361 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.*55G>A single nucleotide variant Deficiency of iodide peroxidase [RCV000363212] Chr2:1542529 [GRCh38]
Chr2:1546301 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.*144T>C single nucleotide variant Deficiency of iodide peroxidase [RCV000324831] Chr2:1542618 [GRCh38]
Chr2:1546390 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.-75A>G single nucleotide variant Deficiency of iodide peroxidase [RCV000326086] Chr2:1413472 [GRCh38]
Chr2:1417244 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.*81C>G single nucleotide variant Deficiency of iodide peroxidase [RCV000309201]|not provided [RCV001672562] Chr2:1542555 [GRCh38]
Chr2:1546327 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV000490259]|not provided [RCV000895932] Chr2:1540622 [GRCh38]
Chr2:1544394 [GRCh37]
Chr2:2p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.866T>C (p.Phe289Ser) single nucleotide variant Congenital hypothyroidism [RCV001270335] Chr2:1477132 [GRCh38]
Chr2:1480904 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.-2+19T>C single nucleotide variant Deficiency of iodide peroxidase [RCV000380813] Chr2:1413564 [GRCh38]
Chr2:1417336 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2702C>G (p.Ala901Gly) single nucleotide variant Deficiency of iodide peroxidase [RCV000293063] Chr2:1540677 [GRCh38]
Chr2:1544449 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1961C>T (p.Ala654Val) single nucleotide variant Deficiency of iodide peroxidase [RCV000303875] Chr2:1493994 [GRCh38]
Chr2:1497766 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1804C>T (p.Arg602Cys) single nucleotide variant not provided [RCV000520863] Chr2:1493837 [GRCh38]
Chr2:1497609 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
NM_001206744.2(TPO):c.1338+5G>A single nucleotide variant Deficiency of iodide peroxidase [RCV000334042] Chr2:1477609 [GRCh38]
Chr2:1481381 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1294G>A (p.Ala432Thr) single nucleotide variant Deficiency of iodide peroxidase [RCV000368096]|Inborn genetic diseases [RCV002521297] Chr2:1477560 [GRCh38]
Chr2:1481332 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2181G>T (p.Met727Ile) single nucleotide variant Deficiency of iodide peroxidase [RCV000369251] Chr2:1496163 [GRCh38]
Chr2:1499935 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1059C>T (p.His353=) single nucleotide variant Deficiency of iodide peroxidase [RCV000355475]|not provided [RCV003765918] Chr2:1477325 [GRCh38]
Chr2:1481097 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.*63dup duplication Congenital hypothyroidism [RCV000395307]|Deficiency of iodide peroxidase [RCV002502284] Chr2:1542533..1542534 [GRCh38]
Chr2:1546305..1546306 [GRCh37]
Chr2:2p25.3		 uncertain significance
Single allele duplication Deficiency of iodide peroxidase [RCV000593310] Chr2:1481222..1481225 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:1534218-1585470)x1 copy number loss not provided [RCV000752818] Chr2:1534218..1585470 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) single nucleotide variant Congenital hypothyroidism [RCV000415396]|Deficiency of iodide peroxidase [RCV001196337] Chr2:1484815 [GRCh38]
Chr2:1488587 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV000414861]|not provided [RCV003558369] Chr2:1494027 [GRCh38]
Chr2:1497799 [GRCh37]
Chr2:2p25.3		 pathogenic|likely pathogenic
GRCh37/hg19 2p25.3(chr2:247589-1453153)x1 copy number loss See cases [RCV000446694] Chr2:247589..1453153 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:528352-2564992)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV000448420] Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3		 pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001206744.2(TPO):c.1099G>A (p.Val367Met) single nucleotide variant not specified [RCV000500264] Chr2:1477365 [GRCh38]
Chr2:1481137 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) duplication Deficiency of iodide peroxidase [RCV000779280]|TPO-related condition [RCV003932797]|not provided [RCV000494448] Chr2:1477447..1477448 [GRCh38]
Chr2:1481219..1481220 [GRCh37]
Chr2:2p25.3		 pathogenic|likely pathogenic
NM_001206744.2(TPO):c.2394C>A (p.Asn798Lys) single nucleotide variant not provided [RCV000494619] Chr2:1503955 [GRCh38]
Chr2:1507727 [GRCh37]
Chr2:2p25.3		 likely pathogenic
GRCh37/hg19 2p25.3(chr2:1383123-1812894)x3 copy number gain See cases [RCV000511525] Chr2:1383123..1812894 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.478A>G (p.Asn160Asp) single nucleotide variant not provided [RCV000493038] Chr2:1436380 [GRCh38]
Chr2:1440152 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys) single nucleotide variant Deficiency of iodide peroxidase [RCV003317777] Chr2:1477275 [GRCh38]
Chr2:1481047 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.47C>A (p.Thr16Lys) single nucleotide variant Inborn genetic diseases [RCV003241994] Chr2:1414455 [GRCh38]
Chr2:1418227 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1544765-1959942)x3 copy number gain not provided [RCV000682072] Chr2:1544765..1959942 [GRCh37]
Chr2:2p25.3		 likely pathogenic
GRCh37/hg19 2p25.3(chr2:1252376-1865090)x3 copy number gain not provided [RCV000682092] Chr2:1252376..1865090 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3(chr2:995005-1670069)x3 copy number gain not provided [RCV000682098] Chr2:995005..1670069 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:618762-1565658)x1 copy number loss not provided [RCV000682108] Chr2:618762..1565658 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3 copy number gain not provided [RCV000682156] Chr2:12770..4823625 [GRCh37]
Chr2:2p25.3-25.2		 pathogenic
Single allele deletion not provided [RCV000677937] Chr2:1151154..1500627 [GRCh37]
Chr2:2p25.3		 uncertain significance
Single allele deletion not provided [RCV000677954] Chr2:1155600..1577713 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.387del (p.Asn129fs) deletion Deficiency of iodide peroxidase [RCV000709870]|not provided [RCV003546589] Chr2:1436289 [GRCh38]
Chr2:1440061 [GRCh37]
Chr2:2p25.3		 pathogenic|not provided
GRCh37/hg19 2p25.3(chr2:658937-2456024)x3 copy number gain not provided [RCV000752815] Chr2:658937..2456024 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1535427-1585470)x1 copy number loss not provided [RCV000752819] Chr2:1535427..1585470 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:1423283-1527383)x3 copy number gain not provided [RCV000740287] Chr2:1423283..1527383 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1426346-1523751)x3 copy number gain not provided [RCV000740288] Chr2:1426346..1523751 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1426346-1525529)x3 copy number gain not provided [RCV000740289] Chr2:1426346..1525529 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1516787-1569595)x1 copy number loss not provided [RCV000740290] Chr2:1516787..1569595 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1525529-1536652)x3 copy number gain not provided [RCV000740291] Chr2:1525529..1536652 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1525529-1536761)x3 copy number gain not provided [RCV000740292] Chr2:1525529..1536761 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1525529-1547230)x3 copy number gain not provided [RCV000740293] Chr2:1525529..1547230 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1527274-1546327)x1 copy number loss not provided [RCV000740294] Chr2:1527274..1546327 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1527274-1547230)x3 copy number gain not provided [RCV000740295] Chr2:1527274..1547230 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1527274-1569485)x1 copy number loss not provided [RCV000740296] Chr2:1527274..1569485 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1527325-1547230)x3 copy number gain not provided [RCV000740297] Chr2:1527325..1547230 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1534218-1546327)x1 copy number loss not provided [RCV000740298] Chr2:1534218..1546327 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1534218-1546359)x1 copy number loss not provided [RCV000740299] Chr2:1534218..1546359 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.95-196A>G single nucleotide variant not provided [RCV001678651] Chr2:1422849 [GRCh38]
Chr2:1426621 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.179+206G>A single nucleotide variant not provided [RCV001539985] Chr2:1423335 [GRCh38]
Chr2:1427107 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.819+243C>T single nucleotide variant not provided [RCV001643319] Chr2:1456525 [GRCh38]
Chr2:1460297 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1769-132A>G single nucleotide variant not provided [RCV001667443] Chr2:1493670 [GRCh38]
Chr2:1497442 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV000936416] Chr2:1414416 [GRCh38]
Chr2:1418188 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2421del (p.Cys808fs) deletion Deficiency of iodide peroxidase [RCV000761530]|not provided [RCV003558563] Chr2:1503976 [GRCh38]
Chr2:1507748 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.764dup (p.Gly256fs) duplication Deficiency of iodide peroxidase [RCV000761531] Chr2:1456222..1456223 [GRCh38]
Chr2:1459994..1459995 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.349+31C>T single nucleotide variant not provided [RCV001691299] Chr2:1433638 [GRCh38]
Chr2:1437410 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.819+86A>G single nucleotide variant not provided [RCV001691528] Chr2:1456368 [GRCh38]
Chr2:1460140 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2691A>T (p.Gly897=) single nucleotide variant Deficiency of iodide peroxidase [RCV001132835] Chr2:1540666 [GRCh38]
Chr2:1544438 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1277C>G (p.Ala426Gly) single nucleotide variant Deficiency of iodide peroxidase [RCV001131231]|not provided [RCV000948588] Chr2:1477543 [GRCh38]
Chr2:1481315 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.1585T>C (p.Leu529=) single nucleotide variant not provided [RCV000948590] Chr2:1484842 [GRCh38]
Chr2:1488614 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1483G>A (p.Ala495Thr) single nucleotide variant Deficiency of iodide peroxidase [RCV001134197]|not provided [RCV000968536] Chr2:1484740 [GRCh38]
Chr2:1488512 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.594C>T (p.Asn198=) single nucleotide variant not provided [RCV000905632] Chr2:1453805 [GRCh38]
Chr2:1457577 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.906C>A (p.Gly302=) single nucleotide variant not provided [RCV000965595] Chr2:1477172 [GRCh38]
Chr2:1480944 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1671C>T (p.Asn557=) single nucleotide variant not provided [RCV000902219] Chr2:1487894 [GRCh38]
Chr2:1491666 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1813A>T (p.Thr605Ser) single nucleotide variant TPO-related condition [RCV003922992]|not provided [RCV000902220] Chr2:1493846 [GRCh38]
Chr2:1497618 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2422del (p.Cys808fs) deletion Deficiency of iodide peroxidase [RCV000779282]|not provided [RCV001701315] Chr2:1503983 [GRCh38]
Chr2:1507755 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1587A>C (p.Leu529Phe) single nucleotide variant Deficiency of iodide peroxidase [RCV001134200]|not provided [RCV000948591] Chr2:1484844 [GRCh38]
Chr2:1488616 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.2052T>C (p.Arg684=) single nucleotide variant not provided [RCV000971102] Chr2:1496034 [GRCh38]
Chr2:1499806 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1155C>T (p.Thr385=) single nucleotide variant not provided [RCV000977725] Chr2:1477421 [GRCh38]
Chr2:1481193 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2193C>T (p.Ala731=) single nucleotide variant not provided [RCV000914386] Chr2:1496175 [GRCh38]
Chr2:1499947 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.753T>C (p.Ala251=) single nucleotide variant not provided [RCV000921158] Chr2:1456216 [GRCh38]
Chr2:1459988 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs) duplication not provided [RCV000969153]|not specified [RCV003323769] Chr2:1540689..1540690 [GRCh38]
Chr2:1544461..1544462 [GRCh37]
Chr2:2p25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.822C>T (p.Leu274=) single nucleotide variant not provided [RCV000931943] Chr2:1477088 [GRCh38]
Chr2:1480860 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2541G>A (p.Val847=) single nucleotide variant TPO-related condition [RCV003957979]|not provided [RCV000892809] Chr2:1516905 [GRCh38]
Chr2:1520677 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.1758C>T (p.His586=) single nucleotide variant Deficiency of iodide peroxidase [RCV001134201]|not provided [RCV000896764] Chr2:1487981 [GRCh38]
Chr2:1491753 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1491C>T (p.Ile497=) single nucleotide variant Deficiency of iodide peroxidase [RCV001134198]|not provided [RCV000961383] Chr2:1484748 [GRCh38]
Chr2:1488520 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) single nucleotide variant Deficiency of iodide peroxidase [RCV001131333]|not provided [RCV000894593]|not specified [RCV003155328] Chr2:1496684 [GRCh38]
Chr2:1500456 [GRCh37]
Chr2:2p25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206744.2(TPO):c.1269C>T (p.Ala423=) single nucleotide variant not provided [RCV000924531] Chr2:1477535 [GRCh38]
Chr2:1481307 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:12770-2348876)x1 copy number loss not provided [RCV000848970] Chr2:12770..2348876 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847256] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1		 pathogenic
GRCh37/hg19 2p25.3(chr2:1269373-1542297)x3 copy number gain not provided [RCV000847502] Chr2:1269373..1542297 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.*37T>C single nucleotide variant Deficiency of iodide peroxidase [RCV001136236] Chr2:1542511 [GRCh38]
Chr2:1546283 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.587T>C (p.Leu196Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV001134074]|not provided [RCV003142068] Chr2:1453798 [GRCh38]
Chr2:1457570 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.712G>T (p.Asp238Tyr) single nucleotide variant Deficiency of iodide peroxidase [RCV001135578] Chr2:1456175 [GRCh38]
Chr2:1459947 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847257] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1		 pathogenic
NM_001206744.2(TPO):c.2412C>G (p.Ala804=) single nucleotide variant not provided [RCV000894916] Chr2:1503973 [GRCh38]
Chr2:1507745 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:12770-3000954)x1 copy number loss not provided [RCV001005218] Chr2:12770..3000954 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.*113G>A single nucleotide variant Deficiency of iodide peroxidase [RCV001136238] Chr2:1542587 [GRCh38]
Chr2:1546359 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1863G>A (p.Lys621=) single nucleotide variant Deficiency of iodide peroxidase [RCV001135703]|not provided [RCV003769640] Chr2:1493896 [GRCh38]
Chr2:1497668 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2051G>A (p.Arg684His) single nucleotide variant Deficiency of iodide peroxidase [RCV001135705] Chr2:1496033 [GRCh38]
Chr2:1499805 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:843845-1862481)x3 copy number gain not provided [RCV000846011] Chr2:843845..1862481 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 copy number loss not provided [RCV000846709] Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.975C>T (p.Asp325=) single nucleotide variant not provided [RCV000914242] Chr2:1477241 [GRCh38]
Chr2:1481013 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1544733-1802661)x4 copy number gain not provided [RCV000847500] Chr2:1544733..1802661 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:959840-1655144)x3 copy number gain not provided [RCV001005220] Chr2:959840..1655144 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1364047-1727590)x3 copy number gain not provided [RCV001005222] Chr2:1364047..1727590 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.266G>A (p.Arg89Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV001131121]|Inborn genetic diseases [RCV002558274] Chr2:1433524 [GRCh38]
Chr2:1437296 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.346A>G (p.Thr116Ala) single nucleotide variant Deficiency of iodide peroxidase [RCV001131122] Chr2:1433604 [GRCh38]
Chr2:1437376 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.348G>A (p.Thr116=) single nucleotide variant Deficiency of iodide peroxidase [RCV001131123]|TPO-related condition [RCV003938484] Chr2:1433606 [GRCh38]
Chr2:1437378 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1138G>A (p.Gly380Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV001131230] Chr2:1477404 [GRCh38]
Chr2:1481176 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys) single nucleotide variant Deficiency of iodide peroxidase [RCV001198575] Chr2:1487970 [GRCh38]
Chr2:1491742 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-3819558)x3 copy number gain not provided [RCV000846909] Chr2:12770..3819558 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2644C>G (p.Leu882Val) single nucleotide variant Deficiency of iodide peroxidase [RCV000986585] Chr2:1540619 [GRCh38]
Chr2:1544391 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.358_361delinsAT (p.Ser120fs) indel not provided [RCV001008602] Chr2:1436260..1436263 [GRCh38]
Chr2:1440032..1440035 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2537G>A (p.Arg846Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV001129038] Chr2:1516901 [GRCh38]
Chr2:1520673 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.-69C>T single nucleotide variant Deficiency of iodide peroxidase [RCV001135460] Chr2:1413478 [GRCh38]
Chr2:1417250 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.617G>A (p.Arg206Gln) single nucleotide variant Deficiency of iodide peroxidase [RCV001135576] Chr2:1456080 [GRCh38]
Chr2:1459852 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.819+226G>T single nucleotide variant not provided [RCV001617794] Chr2:1456508 [GRCh38]
Chr2:1460280 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2007-33C>T single nucleotide variant not provided [RCV001617910] Chr2:1495956 [GRCh38]
Chr2:1499728 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.95-30G>A single nucleotide variant not provided [RCV001689001] Chr2:1423015 [GRCh38]
Chr2:1426787 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1598-212C>A single nucleotide variant not provided [RCV001620673] Chr2:1487609 [GRCh38]
Chr2:1491381 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1683G>T (p.Thr561=) single nucleotide variant TPO-related condition [RCV003950398]|not provided [RCV000892030] Chr2:1487906 [GRCh38]
Chr2:1491678 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1546G>A (p.Gly516Arg) single nucleotide variant not provided [RCV000909824] Chr2:1484803 [GRCh38]
Chr2:1488575 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1098C>T (p.Phe366=) single nucleotide variant not provided [RCV000931689] Chr2:1477364 [GRCh38]
Chr2:1481136 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.978G>A (p.Ala326=) single nucleotide variant TPO-related condition [RCV003950494]|not provided [RCV000897346] Chr2:1477244 [GRCh38]
Chr2:1481016 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu) single nucleotide variant Deficiency of iodide peroxidase [RCV001130505]|not provided [RCV000886779]|not specified [RCV003317396] Chr2:1477348 [GRCh38]
Chr2:1481120 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.1515C>T (p.Asp505=) single nucleotide variant not provided [RCV000963602] Chr2:1484772 [GRCh38]
Chr2:1488544 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.95-9G>A single nucleotide variant not provided [RCV000917641] Chr2:1423036 [GRCh38]
Chr2:1426808 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.165C>T (p.Tyr55=) single nucleotide variant not provided [RCV000910747] Chr2:1423115 [GRCh38]
Chr2:1426887 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2386+11_2386+14del deletion not provided [RCV000915217] Chr2:1496773..1496776 [GRCh38]
Chr2:1500545..1500548 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2415C>T (p.His805=) single nucleotide variant not provided [RCV000904117] Chr2:1503976 [GRCh38]
Chr2:1507748 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1566T>C (p.Ala522=) single nucleotide variant Deficiency of iodide peroxidase [RCV001134199]|not provided [RCV000948589] Chr2:1484823 [GRCh38]
Chr2:1488595 [GRCh37]
Chr2:2p25.3		 benign|likely benign
NM_001206744.2(TPO):c.78G>A (p.Gly26=) single nucleotide variant not provided [RCV000894008] Chr2:1414486 [GRCh38]
Chr2:1418258 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1176C>T (p.Ala392=) single nucleotide variant not provided [RCV000944032] Chr2:1477442 [GRCh38]
Chr2:1481214 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2386+8C>G single nucleotide variant Deficiency of iodide peroxidase [RCV001131334]|not provided [RCV000961384] Chr2:1496773 [GRCh38]
Chr2:1500545 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.687C>T (p.Leu229=) single nucleotide variant not provided [RCV000979610] Chr2:1456150 [GRCh38]
Chr2:1459922 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2652C>G (p.Ile884Met) single nucleotide variant Deficiency of iodide peroxidase [RCV001132834] Chr2:1540627 [GRCh38]
Chr2:1544399 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.502G>A (p.Ala168Thr) single nucleotide variant Deficiency of iodide peroxidase [RCV001134073] Chr2:1453713 [GRCh38]
Chr2:1457485 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.820-15C>T single nucleotide variant Deficiency of iodide peroxidase [RCV001135579]|not provided [RCV003769638] Chr2:1477071 [GRCh38]
Chr2:1480843 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.501C>T (p.Gly167=) single nucleotide variant Deficiency of iodide peroxidase [RCV001134072]|TPO-related condition [RCV003970585]|not provided [RCV000933776] Chr2:1453712 [GRCh38]
Chr2:1457484 [GRCh37]
Chr2:2p25.3		 benign|likely benign|uncertain significance
NM_001206744.2(TPO):c.1338+116C>T single nucleotide variant not provided [RCV001658473] Chr2:1477720 [GRCh38]
Chr2:1481492 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1118313-1604447)x1 copy number loss not provided [RCV002473852] Chr2:1118313..1604447 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3 copy number gain not provided [RCV001005221] Chr2:1045542..4104255 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2006+324T>C single nucleotide variant not provided [RCV001620901] Chr2:1494363 [GRCh38]
Chr2:1498135 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1769-277T>C single nucleotide variant not provided [RCV001716549] Chr2:1493525 [GRCh38]
Chr2:1497297 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1597+42T>C single nucleotide variant not provided [RCV001676093] Chr2:1484896 [GRCh38]
Chr2:1488668 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1768+306A>G single nucleotide variant not provided [RCV001686934] Chr2:1488297 [GRCh38]
Chr2:1492069 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1769-236C>T single nucleotide variant not provided [RCV001676623] Chr2:1493566 [GRCh38]
Chr2:1497338 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.482+143A>G single nucleotide variant not provided [RCV001710281] Chr2:1436527 [GRCh38]
Chr2:1440299 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1597+205A>C single nucleotide variant not provided [RCV001654768] Chr2:1485059 [GRCh38]
Chr2:1488831 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.-51C>T single nucleotide variant Deficiency of iodide peroxidase [RCV001130397] Chr2:1413496 [GRCh38]
Chr2:1417268 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1119G>A (p.Ala373=) single nucleotide variant Deficiency of iodide peroxidase [RCV001130506]|not provided [RCV003769240] Chr2:1477385 [GRCh38]
Chr2:1481157 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.-10G>C single nucleotide variant Deficiency of iodide peroxidase [RCV001130398] Chr2:1413537 [GRCh38]
Chr2:1417309 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.95-14A>G single nucleotide variant Deficiency of iodide peroxidase [RCV001131119]|not provided [RCV003769244] Chr2:1423031 [GRCh38]
Chr2:1426803 [GRCh37]
Chr2:2p25.3		 benign|uncertain significance
NM_001206744.2(TPO):c.1313G>A (p.Arg438His) single nucleotide variant Deficiency of iodide peroxidase [RCV001131232] Chr2:1477579 [GRCh38]
Chr2:1481351 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2539G>A (p.Val847Met) single nucleotide variant Deficiency of iodide peroxidase [RCV001129039] Chr2:1516903 [GRCh38]
Chr2:1520675 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2577C>T (p.Ile859=) single nucleotide variant Deficiency of iodide peroxidase [RCV001129040]|not provided [RCV003769238] Chr2:1516941 [GRCh38]
Chr2:1520713 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.2619-219A>T single nucleotide variant not provided [RCV001650700] Chr2:1540375 [GRCh38]
Chr2:1544147 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1769-277_1769-206del deletion not provided [RCV001714766] Chr2:1493495..1493566 [GRCh38]
Chr2:1497267..1497338 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1598-96T>C single nucleotide variant not provided [RCV001707495] Chr2:1487725 [GRCh38]
Chr2:1491497 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2386+128C>T single nucleotide variant not provided [RCV001609391] Chr2:1496893 [GRCh38]
Chr2:1500665 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.483-102A>G single nucleotide variant not provided [RCV001681261] Chr2:1453592 [GRCh38]
Chr2:1457364 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2748+122G>A single nucleotide variant not provided [RCV001641739] Chr2:1540845 [GRCh38]
Chr2:1544617 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.613-42A>G single nucleotide variant not provided [RCV001679168] Chr2:1456034 [GRCh38]
Chr2:1459806 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.905G>A (p.Gly302Asp) single nucleotide variant Deficiency of iodide peroxidase [RCV001130503] Chr2:1477171 [GRCh38]
Chr2:1480943 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1037C>T (p.Ala346Val) single nucleotide variant Deficiency of iodide peroxidase [RCV001130504] Chr2:1477303 [GRCh38]
Chr2:1481075 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.208C>G (p.Pro70Ala) single nucleotide variant Deficiency of iodide peroxidase [RCV001131120]|not provided [RCV001760093] Chr2:1433466 [GRCh38]
Chr2:1437238 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2758G>C (p.Gly920Arg) single nucleotide variant Deficiency of iodide peroxidase [RCV001136235] Chr2:1542430 [GRCh38]
Chr2:1546202 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.*54C>T single nucleotide variant Deficiency of iodide peroxidase [RCV001136237]|not specified [RCV003235478] Chr2:1542528 [GRCh38]
Chr2:1546300 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2704G>T (p.Val902Leu) single nucleotide variant Deficiency of iodide peroxidase [RCV001132836] Chr2:1540679 [GRCh38]
Chr2:1544451 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2007-12C>T single nucleotide variant Deficiency of iodide peroxidase [RCV001135704]|not provided [RCV003769641] Chr2:1495977 [GRCh38]
Chr2:1499749 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del) deletion Deficiency of iodide peroxidase [RCV001195923] Chr2:1484685..1484705 [GRCh38]
Chr2:1488457..1488477 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2536C>T (p.Arg846Trp) single nucleotide variant Deficiency of iodide peroxidase [RCV001136009]|not provided [RCV003718353] Chr2:1516900 [GRCh38]
Chr2:1520672 [GRCh37]
Chr2:2p25.3		 likely benign|uncertain significance
NM_001206744.2(TPO):c.-1-11G>A single nucleotide variant Deficiency of iodide peroxidase [RCV001130399] Chr2:1414397 [GRCh38]
Chr2:1418169 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1492690-2204279)x3 copy number gain not provided [RCV001259162] Chr2:1492690..2204279 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-1680334)x1 copy number loss not provided [RCV001259635] Chr2:12770..1680334 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.719A>G (p.Asp240Gly) single nucleotide variant Deficiency of iodide peroxidase [RCV001257078] Chr2:1456182 [GRCh38]
Chr2:1459954 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2315A>G (p.Tyr772Cys) single nucleotide variant Deficiency of iodide peroxidase [RCV001257080] Chr2:1496694 [GRCh38]
Chr2:1500466 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro) single nucleotide variant Deficiency of iodide peroxidase [RCV001329366] Chr2:1496678 [GRCh38]
Chr2:1500450 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1477G>A (p.Gly493Ser) single nucleotide variant Deficiency of iodide peroxidase [RCV003230667]|Neurodevelopmental disorder [RCV001374909]|not provided [RCV003558825] Chr2:1484734 [GRCh38]
Chr2:1488506 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.214C>T (p.Gln72Ter) single nucleotide variant Deficiency of iodide peroxidase [RCV001329365] Chr2:1433472 [GRCh38]
Chr2:1437244 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys) single nucleotide variant Deficiency of iodide peroxidase [RCV001329364] Chr2:1477578 [GRCh38]
Chr2:1481350 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1768+1_1768+9dup duplication Congenital hypothyroidism [RCV001270340] Chr2:1487984..1487985 [GRCh38]
Chr2:1491756..1491757 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.391T>C (p.Ser131Pro) single nucleotide variant Deficiency of iodide peroxidase [RCV001376081] Chr2:1436293 [GRCh38]
Chr2:1440065 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.820-182G>C single nucleotide variant not provided [RCV001686131] Chr2:1476904 [GRCh38]
Chr2:1480676 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) single nucleotide variant Deficiency of iodide peroxidase [RCV002280187]|not provided [RCV001653105] Chr2:1516942 [GRCh38]
Chr2:1520714 [GRCh37]
Chr2:2p25.3		 pathogenic|likely pathogenic
NM_001206744.2(TPO):c.180-47A>C single nucleotide variant not provided [RCV001710007] Chr2:1433391 [GRCh38]
Chr2:1437163 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter) single nucleotide variant Deficiency of iodide peroxidase [RCV002277634]|not provided [RCV003560917] Chr2:1433523 [GRCh38]
Chr2:1437295 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg) single nucleotide variant Deficiency of iodide peroxidase [RCV002251166] Chr2:1504034 [GRCh38]
Chr2:1507806 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2512T>A (p.Cys838Ser) single nucleotide variant not provided [RCV001756674] Chr2:1504073 [GRCh38]
Chr2:1507845 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1996G>A (p.Asp666Asn) single nucleotide variant not provided [RCV001767026] Chr2:1494029 [GRCh38]
Chr2:1497801 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2507G>C (p.Arg836Thr) single nucleotide variant not provided [RCV001767025] Chr2:1504068 [GRCh38]
Chr2:1507840 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs) duplication Deficiency of iodide peroxidase [RCV002274208]|not provided [RCV003546712] Chr2:1414438..1414439 [GRCh38]
Chr2:1418210..1418211 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2519-3C>G single nucleotide variant not provided [RCV001816253] Chr2:1516880 [GRCh38]
Chr2:1520652 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:10501-2386917)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV001801227] Chr2:10501..2386917 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter) single nucleotide variant Deficiency of iodide peroxidase [RCV001808258]|not provided [RCV003560858] Chr2:1493819 [GRCh38]
Chr2:1497591 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1169T>A (p.Phe390Tyr) single nucleotide variant not specified [RCV001819240] Chr2:1477435 [GRCh38]
Chr2:1481207 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1492690-2203775)x3 copy number gain not provided [RCV001834304] Chr2:1492690..2203775 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:528352-2564992) copy number loss not specified [RCV002053012] Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:637829-1945590) copy number loss not specified [RCV002053023] Chr2:637829..1945590 [GRCh37]
Chr2:2p25.3		 pathogenic
NC_000002.11:g.(?_1426817)_(1520754_?)dup duplication not provided [RCV002020739] Chr2:1426817..1520754 [GRCh37]
Chr2:2p25.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg) single nucleotide variant Deficiency of iodide peroxidase [RCV002250953] Chr2:1477425 [GRCh38]
Chr2:1481197 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2548A>G (p.Ile850Val) single nucleotide variant not provided [RCV002287042] Chr2:1516912 [GRCh38]
Chr2:1520684 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2723_2732del (p.Arg908fs) deletion not specified [RCV003236452] Chr2:1540691..1540700 [GRCh38]
Chr2:1544463..1544472 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1970T>C (p.Ile657Thr) single nucleotide variant not specified [RCV003236453] Chr2:1494003 [GRCh38]
Chr2:1497775 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp) single nucleotide variant Deficiency of iodide peroxidase [RCV002291197]|not provided [RCV003222414]|not specified [RCV003235700] Chr2:1487973 [GRCh38]
Chr2:1491745 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:12771-1947832)x1 copy number loss not provided [RCV002474573] Chr2:12771..1947832 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.920A>C (p.Asn307Thr) single nucleotide variant Deficiency of iodide peroxidase [RCV003152999] Chr2:1477186 [GRCh38]
Chr2:1480958 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1544766-2315044)x3 copy number gain not provided [RCV002475629] Chr2:1544766..2315044 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2152T>G (p.Phe718Val) single nucleotide variant Inborn genetic diseases [RCV002689156] Chr2:1496134 [GRCh38]
Chr2:1499906 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1840G>A (p.Ala614Thr) single nucleotide variant Inborn genetic diseases [RCV002969936]|not provided [RCV003140202] Chr2:1493873 [GRCh38]
Chr2:1497645 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.938C>T (p.Pro313Leu) single nucleotide variant Inborn genetic diseases [RCV002732993] Chr2:1477204 [GRCh38]
Chr2:1480976 [GRCh37]
Chr2:2p25.3		 uncertain significance
NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup duplication Deficiency of iodide peroxidase [RCV002510476] Chr2:1426816..1520755 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2619G>T (p.Trp873Cys) single nucleotide variant Inborn genetic diseases [RCV002951321] Chr2:1540594 [GRCh38]
Chr2:1544366 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.832G>C (p.Ala278Pro) single nucleotide variant Inborn genetic diseases [RCV002952119] Chr2:1477098 [GRCh38]
Chr2:1480870 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.724G>A (p.Ala242Thr) single nucleotide variant Inborn genetic diseases [RCV002704799] Chr2:1456187 [GRCh38]
Chr2:1459959 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1111G>A (p.Ala371Thr) single nucleotide variant Inborn genetic diseases [RCV002822637] Chr2:1477377 [GRCh38]
Chr2:1481149 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.601C>A (p.Pro201Thr) single nucleotide variant Inborn genetic diseases [RCV002742891] Chr2:1453812 [GRCh38]
Chr2:1457584 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2240G>A (p.Ser747Asn) single nucleotide variant Inborn genetic diseases [RCV002916835] Chr2:1496619 [GRCh38]
Chr2:1500391 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2597C>T (p.Thr866Ile) single nucleotide variant Inborn genetic diseases [RCV002718036] Chr2:1516961 [GRCh38]
Chr2:1520733 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.673C>T (p.Arg225Cys) single nucleotide variant Inborn genetic diseases [RCV002836075] Chr2:1456136 [GRCh38]
Chr2:1459908 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1855G>A (p.Ala619Thr) single nucleotide variant Inborn genetic diseases [RCV002792179] Chr2:1493888 [GRCh38]
Chr2:1497660 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1616T>C (p.Ile539Thr) single nucleotide variant Inborn genetic diseases [RCV002855495] Chr2:1487839 [GRCh38]
Chr2:1491611 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2547G>T (p.Trp849Cys) single nucleotide variant Inborn genetic diseases [RCV002939221] Chr2:1516911 [GRCh38]
Chr2:1520683 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1810G>A (p.Glu604Lys) single nucleotide variant Inborn genetic diseases [RCV002934640] Chr2:1493843 [GRCh38]
Chr2:1497615 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.853G>A (p.Ala285Thr) single nucleotide variant Inborn genetic diseases [RCV002722495] Chr2:1477119 [GRCh38]
Chr2:1480891 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2029G>A (p.Val677Ile) single nucleotide variant Inborn genetic diseases [RCV002677545] Chr2:1496011 [GRCh38]
Chr2:1499783 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_000547.5(TPO):c.-917T>C single nucleotide variant not provided [RCV003141134] Chr2:1412635 [GRCh38]
Chr2:1416407 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1619G>A (p.Arg540Gln) single nucleotide variant Inborn genetic diseases [RCV003202916] Chr2:1487842 [GRCh38]
Chr2:1491614 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1277C>A (p.Ala426Glu) single nucleotide variant not provided [RCV003141133] Chr2:1477543 [GRCh38]
Chr2:1481315 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.218T>C (p.Leu73Pro) single nucleotide variant not provided [RCV003141135] Chr2:1433476 [GRCh38]
Chr2:1437248 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1220A>C (p.His407Pro) single nucleotide variant Inborn genetic diseases [RCV003214339] Chr2:1477486 [GRCh38]
Chr2:1481258 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2324A>G (p.Gln775Arg) single nucleotide variant Inborn genetic diseases [RCV003282067] Chr2:1496703 [GRCh38]
Chr2:1500475 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1768+1G>A single nucleotide variant not provided [RCV003323189] Chr2:1487992 [GRCh38]
Chr2:1491764 [GRCh37]
Chr2:2p25.3		 pathogenic|likely pathogenic
NM_001206744.2(TPO):c.499G>A (p.Gly167Ser) single nucleotide variant not provided [RCV003321177] Chr2:1453710 [GRCh38]
Chr2:1457482 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter) single nucleotide variant Deficiency of iodide peroxidase [RCV003331725]|not provided [RCV003708768] Chr2:1504053 [GRCh38]
Chr2:1507825 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2459G>A (p.Gly820Asp) single nucleotide variant Inborn genetic diseases [RCV003385201] Chr2:1504020 [GRCh38]
Chr2:1507792 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.746G>C (p.Ser249Thr) single nucleotide variant TPO-related condition [RCV003393240] Chr2:1456209 [GRCh38]
Chr2:1459981 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV003458261] Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2624G>A (p.Arg875His) single nucleotide variant Inborn genetic diseases [RCV003366366] Chr2:1540599 [GRCh38]
Chr2:1544371 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.179+12G>A single nucleotide variant not provided [RCV003873081] Chr2:1423141 [GRCh38]
Chr2:1426913 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-14C>T single nucleotide variant not provided [RCV003569356] Chr2:1456062 [GRCh38]
Chr2:1459834 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1323G>T (p.Val441=) single nucleotide variant not provided [RCV003569405] Chr2:1477589 [GRCh38]
Chr2:1481361 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1723C>T (p.Leu575=) single nucleotide variant not provided [RCV003571566] Chr2:1487946 [GRCh38]
Chr2:1491718 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2006+9C>T single nucleotide variant not provided [RCV003686255] Chr2:1494048 [GRCh38]
Chr2:1497820 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.918G>C (p.Gly306=) single nucleotide variant not provided [RCV003570187] Chr2:1477184 [GRCh38]
Chr2:1480956 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2523C>T (p.Ser841=) single nucleotide variant TPO-related condition [RCV003909202]|not provided [RCV003873822] Chr2:1516887 [GRCh38]
Chr2:1520659 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+16del deletion not provided [RCV003570827] Chr2:1496212 [GRCh38]
Chr2:1499984 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.180-8T>G single nucleotide variant not provided [RCV003874801] Chr2:1433430 [GRCh38]
Chr2:1437202 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.179+1G>A single nucleotide variant not provided [RCV003570822] Chr2:1423130 [GRCh38]
Chr2:1426902 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys) single nucleotide variant Deficiency of iodide peroxidase [RCV003447729] Chr2:1436357 [GRCh38]
Chr2:1440129 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter) single nucleotide variant Deficiency of iodide peroxidase [RCV003447730]|not provided [RCV003553941] Chr2:1540594 [GRCh38]
Chr2:1544366 [GRCh37]
Chr2:2p25.3		 pathogenic|likely pathogenic
NM_001206744.2(TPO):c.1530G>A (p.Glu510=) single nucleotide variant not provided [RCV003569259] Chr2:1484787 [GRCh38]
Chr2:1488559 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:1498592-2153497)x3 copy number gain not provided [RCV003484060] Chr2:1498592..2153497 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2311G>A (p.Gly771Arg) single nucleotide variant TPO-related condition [RCV003399452] Chr2:1496690 [GRCh38]
Chr2:1500462 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
NM_001206744.2(TPO):c.2386G>A (p.Asp796Asn) single nucleotide variant not specified [RCV003405166] Chr2:1496765 [GRCh38]
Chr2:1500537 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2619-3572_2619-3516del deletion not provided [RCV003425472] Chr2:1537008..1537064 [GRCh38]
Chr2:1540780..1540836 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2078G>C (p.Arg693Pro) single nucleotide variant TPO-related condition [RCV003404454] Chr2:1496060 [GRCh38]
Chr2:1499832 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.834C>T (p.Ala278=) single nucleotide variant not provided [RCV003415488] Chr2:1477100 [GRCh38]
Chr2:1480872 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.636C>A (p.Val212=) single nucleotide variant not provided [RCV003415487] Chr2:1456099 [GRCh38]
Chr2:1459871 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2513G>A (p.Cys838Tyr) single nucleotide variant not specified [RCV003388408] Chr2:1504074 [GRCh38]
Chr2:1507846 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.2619-3592A>T single nucleotide variant not provided [RCV003425471] Chr2:1537002 [GRCh38]
Chr2:1540774 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-3077T>C single nucleotide variant not provided [RCV003425473] Chr2:1537517 [GRCh38]
Chr2:1541289 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1045_1054delinsT (p.Leu349_Val352delinsPhe) indel TPO-related condition [RCV003400433] Chr2:1477311..1477320 [GRCh38]
Chr2:1481083..1481092 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
NM_001206744.2(TPO):c.1662G>A (p.Gln554=) single nucleotide variant not provided [RCV003694240] Chr2:1487885 [GRCh38]
Chr2:1491657 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2652C>T (p.Ile884=) single nucleotide variant not provided [RCV003739680] Chr2:1540627 [GRCh38]
Chr2:1544399 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2286C>A (p.Arg762=) single nucleotide variant not provided [RCV003849256] Chr2:1496665 [GRCh38]
Chr2:1500437 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2145C>G (p.Pro715=) single nucleotide variant not provided [RCV003547165] Chr2:1496127 [GRCh38]
Chr2:1499899 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.300G>A (p.Ala100=) single nucleotide variant not provided [RCV003662672] Chr2:1433558 [GRCh38]
Chr2:1437330 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1072_1079dup (p.Arg361fs) duplication not provided [RCV003578359] Chr2:1477331..1477332 [GRCh38]
Chr2:1481103..1481104 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.597G>T (p.Gly199=) single nucleotide variant not provided [RCV003713478] Chr2:1453808 [GRCh38]
Chr2:1457580 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1260G>A (p.Ala420=) single nucleotide variant not provided [RCV003829431] Chr2:1477526 [GRCh38]
Chr2:1481298 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.597del (p.Phe200fs) deletion not provided [RCV003693487] Chr2:1453806 [GRCh38]
Chr2:1457578 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1339-1147T>C single nucleotide variant Deficiency of iodide peroxidase [RCV003610001] Chr2:1483449 [GRCh38]
Chr2:1487221 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2559G>A (p.Ser853=) single nucleotide variant not provided [RCV003660345] Chr2:1516923 [GRCh38]
Chr2:1520695 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.825G>A (p.Pro275=) single nucleotide variant not provided [RCV003831460] Chr2:1477091 [GRCh38]
Chr2:1480863 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1161G>A (p.Gly387=) single nucleotide variant not provided [RCV003878342] Chr2:1477427 [GRCh38]
Chr2:1481199 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1428C>T (p.Thr476=) single nucleotide variant not provided [RCV003831028] Chr2:1484685 [GRCh38]
Chr2:1488457 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.958T>C (p.Leu320=) single nucleotide variant not provided [RCV003831463] Chr2:1477224 [GRCh38]
Chr2:1480996 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1344C>A (p.Ile448=) single nucleotide variant not provided [RCV003579320] Chr2:1484601 [GRCh38]
Chr2:1488373 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1516G>A (p.Ala506Thr) single nucleotide variant not provided [RCV003491683] Chr2:1484773 [GRCh38]
Chr2:1488545 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.630A>G (p.Arg210=) single nucleotide variant not provided [RCV003687530] Chr2:1456093 [GRCh38]
Chr2:1459865 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1908G>A (p.Leu636=) single nucleotide variant not provided [RCV003578920] Chr2:1493941 [GRCh38]
Chr2:1497713 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2283G>A (p.Arg761=) single nucleotide variant not provided [RCV003696408] Chr2:1496662 [GRCh38]
Chr2:1500434 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2280G>A (p.Gly760=) single nucleotide variant not provided [RCV003696772] Chr2:1496659 [GRCh38]
Chr2:1500431 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1718T>A (p.Leu573Ter) single nucleotide variant not provided [RCV003695120] Chr2:1487941 [GRCh38]
Chr2:1491713 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.486C>T (p.Asp162=) single nucleotide variant not provided [RCV003714047] Chr2:1453697 [GRCh38]
Chr2:1457469 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1132_1135dup (p.Pro379fs) duplication not provided [RCV003696667] Chr2:1477396..1477397 [GRCh38]
Chr2:1481168..1481169 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2518+19C>G single nucleotide variant not provided [RCV003579340] Chr2:1504098 [GRCh38]
Chr2:1507870 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2490G>A (p.Glu830=) single nucleotide variant not provided [RCV003713020] Chr2:1504051 [GRCh38]
Chr2:1507823 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1768+16C>T single nucleotide variant not provided [RCV003662566] Chr2:1488007 [GRCh38]
Chr2:1491779 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1935C>T (p.Pro645=) single nucleotide variant not provided [RCV003828689] Chr2:1493968 [GRCh38]
Chr2:1497740 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+1G>A single nucleotide variant not provided [RCV003576469] Chr2:1496198 [GRCh38]
Chr2:1499970 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.1338+7G>A single nucleotide variant not provided [RCV003827470] Chr2:1477611 [GRCh38]
Chr2:1481383 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+9C>A single nucleotide variant not provided [RCV003692569] Chr2:1496206 [GRCh38]
Chr2:1499978 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1597+10T>C single nucleotide variant not provided [RCV003694915] Chr2:1484864 [GRCh38]
Chr2:1488636 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1539C>T (p.Asp513=) single nucleotide variant not provided [RCV003546345] Chr2:1484796 [GRCh38]
Chr2:1488568 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.819+16C>G single nucleotide variant not provided [RCV003577257] Chr2:1456298 [GRCh38]
Chr2:1460070 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2427C>T (p.His809=) single nucleotide variant not provided [RCV003880294] Chr2:1503988 [GRCh38]
Chr2:1507760 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2665G>A (p.Gly889Arg) single nucleotide variant not provided [RCV003491684] Chr2:1540640 [GRCh38]
Chr2:1544412 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_001206744.2(TPO):c.1353G>A (p.Arg451=) single nucleotide variant not provided [RCV003693234] Chr2:1484610 [GRCh38]
Chr2:1488382 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1497G>A (p.Pro499=) single nucleotide variant not provided [RCV003876327] Chr2:1484754 [GRCh38]
Chr2:1488526 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.517C>T (p.Leu173=) single nucleotide variant not provided [RCV003880372] Chr2:1453728 [GRCh38]
Chr2:1457500 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2742G>A (p.Ser914=) single nucleotide variant not provided [RCV003827570] Chr2:1540717 [GRCh38]
Chr2:1544489 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.810T>C (p.Phe270=) single nucleotide variant not provided [RCV003713905] Chr2:1456273 [GRCh38]
Chr2:1460045 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+20C>T single nucleotide variant not provided [RCV003693285] Chr2:1496217 [GRCh38]
Chr2:1499989 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1797C>G (p.Gly599=) single nucleotide variant not provided [RCV003829450] Chr2:1493830 [GRCh38]
Chr2:1497602 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1422C>T (p.Asp474=) single nucleotide variant not provided [RCV003739100] Chr2:1484679 [GRCh38]
Chr2:1488451 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.612+16G>A single nucleotide variant not provided [RCV003828766] Chr2:1453839 [GRCh38]
Chr2:1457611 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-17G>A single nucleotide variant not provided [RCV003828912] Chr2:1456059 [GRCh38]
Chr2:1459831 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1803T>G (p.Pro601=) single nucleotide variant not provided [RCV003714747] Chr2:1493836 [GRCh38]
Chr2:1497608 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.127T>C (p.Leu43=) single nucleotide variant not provided [RCV003691363] Chr2:1423077 [GRCh38]
Chr2:1426849 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1545C>T (p.Pro515=) single nucleotide variant not provided [RCV003826264] Chr2:1484802 [GRCh38]
Chr2:1488574 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.624G>A (p.Val208=) single nucleotide variant not provided [RCV003691396] Chr2:1456087 [GRCh38]
Chr2:1459859 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.95-19G>A single nucleotide variant not provided [RCV003544654] Chr2:1423026 [GRCh38]
Chr2:1426798 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1249C>T (p.Leu417=) single nucleotide variant not provided [RCV003573362] Chr2:1477515 [GRCh38]
Chr2:1481287 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2216-5C>T single nucleotide variant not provided [RCV003545295] Chr2:1496590 [GRCh38]
Chr2:1500362 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.768G>C (p.Gly256=) single nucleotide variant not provided [RCV003662357] Chr2:1456231 [GRCh38]
Chr2:1460003 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2094C>T (p.Asn698=) single nucleotide variant not provided [RCV003714897] Chr2:1496076 [GRCh38]
Chr2:1499848 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1398C>T (p.Tyr466=) single nucleotide variant not provided [RCV003878716] Chr2:1484655 [GRCh38]
Chr2:1488427 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2577C>A (p.Ile859=) single nucleotide variant not provided [RCV003691550] Chr2:1516941 [GRCh38]
Chr2:1520713 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.349+12C>G single nucleotide variant not provided [RCV003828426] Chr2:1433619 [GRCh38]
Chr2:1437391 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1023G>C (p.Arg341=) single nucleotide variant not provided [RCV003578176] Chr2:1477289 [GRCh38]
Chr2:1481061 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2514C>T (p.Cys838=) single nucleotide variant not provided [RCV003573515] Chr2:1504075 [GRCh38]
Chr2:1507847 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.819+16C>T single nucleotide variant not provided [RCV003826510] Chr2:1456298 [GRCh38]
Chr2:1460070 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1338+20G>A single nucleotide variant not provided [RCV003573196] Chr2:1477624 [GRCh38]
Chr2:1481396 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1023G>A (p.Arg341=) single nucleotide variant not provided [RCV003875821] Chr2:1477289 [GRCh38]
Chr2:1481061 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1769-19C>A single nucleotide variant not provided [RCV003687055] Chr2:1493783 [GRCh38]
Chr2:1497555 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.674G>A (p.Arg225His) single nucleotide variant not provided [RCV003573216] Chr2:1456137 [GRCh38]
Chr2:1459909 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2004C>T (p.Asp668=) single nucleotide variant not provided [RCV003694839] Chr2:1494037 [GRCh38]
Chr2:1497809 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1038C>T (p.Ala346=) single nucleotide variant not provided [RCV003715508] Chr2:1477304 [GRCh38]
Chr2:1481076 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1701G>C (p.Leu567=) single nucleotide variant not provided [RCV003690550] Chr2:1487924 [GRCh38]
Chr2:1491696 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1769-7del deletion not provided [RCV003578918] Chr2:1493795 [GRCh38]
Chr2:1497567 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2387-13G>T single nucleotide variant not provided [RCV003547011] Chr2:1503935 [GRCh38]
Chr2:1507707 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2217C>T (p.Asp739=) single nucleotide variant not provided [RCV003548039] Chr2:1496596 [GRCh38]
Chr2:1500368 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.363A>G (p.Glu121=) single nucleotide variant not provided [RCV003572305] Chr2:1436265 [GRCh38]
Chr2:1440037 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-16T>C single nucleotide variant not provided [RCV003688682] Chr2:1516867 [GRCh38]
Chr2:1520639 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.94+16A>G single nucleotide variant not provided [RCV003689501] Chr2:1414518 [GRCh38]
Chr2:1418290 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748+18G>A single nucleotide variant not provided [RCV003829039] Chr2:1540741 [GRCh38]
Chr2:1544513 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2607G>C (p.Val869=) single nucleotide variant not provided [RCV003544788] Chr2:1516971 [GRCh38]
Chr2:1520743 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1270del (p.Leu424fs) deletion not provided [RCV003829944] Chr2:1477534 [GRCh38]
Chr2:1481306 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2790G>A (p.Pro930=) single nucleotide variant not provided [RCV003738867] Chr2:1542462 [GRCh38]
Chr2:1546234 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2387-17C>A single nucleotide variant not provided [RCV003578442] Chr2:1503931 [GRCh38]
Chr2:1507703 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.220C>T (p.Leu74=) single nucleotide variant not provided [RCV003691920] Chr2:1433478 [GRCh38]
Chr2:1437250 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.843C>G (p.Ala281=) single nucleotide variant not provided [RCV003686624] Chr2:1477109 [GRCh38]
Chr2:1480881 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1131C>T (p.Pro377=) single nucleotide variant not provided [RCV003576906] Chr2:1477397 [GRCh38]
Chr2:1481169 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1857C>A (p.Ala619=) single nucleotide variant not provided [RCV003739743] Chr2:1493890 [GRCh38]
Chr2:1497662 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-7G>T single nucleotide variant not provided [RCV003574641] Chr2:1516876 [GRCh38]
Chr2:1520648 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.555C>T (p.Phe185=) single nucleotide variant not provided [RCV003574642] Chr2:1453766 [GRCh38]
Chr2:1457538 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2601G>A (p.Ser867=) single nucleotide variant not provided [RCV003713294] Chr2:1516965 [GRCh38]
Chr2:1520737 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1557G>A (p.Leu519=) single nucleotide variant not provided [RCV003690317] Chr2:1484814 [GRCh38]
Chr2:1488586 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1047G>A (p.Leu349=) single nucleotide variant not provided [RCV003572317] Chr2:1477313 [GRCh38]
Chr2:1481085 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.94+17T>C single nucleotide variant not provided [RCV003688244] Chr2:1414519 [GRCh38]
Chr2:1418291 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2007-14C>T single nucleotide variant not provided [RCV003575566] Chr2:1495975 [GRCh38]
Chr2:1499747 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1716C>G (p.Thr572=) single nucleotide variant not provided [RCV003882531] Chr2:1487939 [GRCh38]
Chr2:1491711 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.879G>C (p.Ser293=) single nucleotide variant not provided [RCV003576470] Chr2:1477145 [GRCh38]
Chr2:1480917 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.906C>T (p.Gly302=) single nucleotide variant not provided [RCV003878571] Chr2:1477172 [GRCh38]
Chr2:1480944 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.918G>T (p.Gly306=) single nucleotide variant not provided [RCV003575578] Chr2:1477184 [GRCh38]
Chr2:1480956 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2216-12C>T single nucleotide variant not provided [RCV003687480] Chr2:1496583 [GRCh38]
Chr2:1500355 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1338+8G>A single nucleotide variant not provided [RCV003693108] Chr2:1477612 [GRCh38]
Chr2:1481384 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1699C>T (p.Leu567=) single nucleotide variant not provided [RCV003693122] Chr2:1487922 [GRCh38]
Chr2:1491694 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.94+20C>T single nucleotide variant not provided [RCV003879865] Chr2:1414522 [GRCh38]
Chr2:1418294 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1800G>A (p.Leu600=) single nucleotide variant not provided [RCV003826049] Chr2:1493833 [GRCh38]
Chr2:1497605 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.948G>A (p.Gln316=) single nucleotide variant not provided [RCV003716216] Chr2:1477214 [GRCh38]
Chr2:1480986 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1536C>T (p.Pro512=) single nucleotide variant not provided [RCV003824630] Chr2:1484793 [GRCh38]
Chr2:1488565 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1687del (p.Arg563fs) deletion not provided [RCV003687776] Chr2:1487908 [GRCh38]
Chr2:1491680 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2215+16C>T single nucleotide variant not provided [RCV003877302] Chr2:1496213 [GRCh38]
Chr2:1499985 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2386+17A>C single nucleotide variant not provided [RCV003689497] Chr2:1496782 [GRCh38]
Chr2:1500554 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2223G>A (p.Lys741=) single nucleotide variant not provided [RCV003662543] Chr2:1496602 [GRCh38]
Chr2:1500374 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-17C>T single nucleotide variant not provided [RCV003877303] Chr2:1516866 [GRCh38]
Chr2:1520638 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1825C>T (p.Leu609=) single nucleotide variant not provided [RCV003547154] Chr2:1493858 [GRCh38]
Chr2:1497630 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-19G>A single nucleotide variant not provided [RCV003825251] Chr2:1540575 [GRCh38]
Chr2:1544347 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.*66_*106del deletion not provided [RCV003714297] Chr2:1542534..1542574 [GRCh38]
Chr2:1546306..1546346 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1768+17C>T single nucleotide variant not provided [RCV003832812] Chr2:1488008 [GRCh38]
Chr2:1491780 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1566T>G (p.Ala522=) single nucleotide variant not provided [RCV003833723] Chr2:1484823 [GRCh38]
Chr2:1488595 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1806C>G (p.Arg602=) single nucleotide variant not provided [RCV003850409] Chr2:1493839 [GRCh38]
Chr2:1497611 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.180-15C>T single nucleotide variant not provided [RCV003811189] Chr2:1433423 [GRCh38]
Chr2:1437195 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.777C>T (p.Cys259=) single nucleotide variant not provided [RCV003696861] Chr2:1456240 [GRCh38]
Chr2:1460012 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.930G>A (p.Thr310=) single nucleotide variant not provided [RCV003659054] Chr2:1477196 [GRCh38]
Chr2:1480968 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.295C>T (p.Gln99Ter) single nucleotide variant not provided [RCV003580707] Chr2:1433553 [GRCh38]
Chr2:1437325 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1768+9G>C single nucleotide variant not provided [RCV003696945] Chr2:1488000 [GRCh38]
Chr2:1491772 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1207C>T (p.Leu403=) single nucleotide variant not provided [RCV003834046] Chr2:1477473 [GRCh38]
Chr2:1481245 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2044C>T (p.Gln682Ter) single nucleotide variant not provided [RCV003835050] Chr2:1496026 [GRCh38]
Chr2:1499798 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1326C>T (p.Gly442=) single nucleotide variant not provided [RCV003811478] Chr2:1477592 [GRCh38]
Chr2:1481364 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.837G>C (p.Arg279=) single nucleotide variant not provided [RCV003697966] Chr2:1477103 [GRCh38]
Chr2:1480875 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2669del (p.Gly890fs) deletion not provided [RCV003548188] Chr2:1540643 [GRCh38]
Chr2:1544415 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2334G>A (p.Glu778=) single nucleotide variant not provided [RCV003548207] Chr2:1496713 [GRCh38]
Chr2:1500485 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2085C>T (p.Ile695=) single nucleotide variant not provided [RCV003548270] Chr2:1496067 [GRCh38]
Chr2:1499839 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1224G>A (p.Thr408=) single nucleotide variant not provided [RCV003852671] Chr2:1477490 [GRCh38]
Chr2:1481262 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.402C>T (p.Leu134=) single nucleotide variant not provided [RCV003666205] Chr2:1436304 [GRCh38]
Chr2:1440076 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.822C>G (p.Leu274=) single nucleotide variant not provided [RCV003664755] Chr2:1477088 [GRCh38]
Chr2:1480860 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1938G>A (p.Arg646=) single nucleotide variant not provided [RCV003832400] Chr2:1493971 [GRCh38]
Chr2:1497743 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2544T>C (p.Thr848=) single nucleotide variant not provided [RCV003717314] Chr2:1516908 [GRCh38]
Chr2:1520680 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1572C>T (p.Phe524=) single nucleotide variant not provided [RCV003664798] Chr2:1484829 [GRCh38]
Chr2:1488601 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.9G>T (p.Ala3=) single nucleotide variant not provided [RCV003834444] Chr2:1414417 [GRCh38]
Chr2:1418189 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2790G>T (p.Pro930=) single nucleotide variant not provided [RCV003664028] Chr2:1542462 [GRCh38]
Chr2:1546234 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.349+10G>T single nucleotide variant not provided [RCV003664123] Chr2:1433617 [GRCh38]
Chr2:1437389 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.927C>T (p.Ser309=) single nucleotide variant not provided [RCV003834594] Chr2:1477193 [GRCh38]
Chr2:1480965 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.726G>A (p.Ala242=) single nucleotide variant not provided [RCV003832621] Chr2:1456189 [GRCh38]
Chr2:1459961 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-8T>C single nucleotide variant not provided [RCV003717707] Chr2:1516875 [GRCh38]
Chr2:1520647 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.179+18G>A single nucleotide variant not provided [RCV003701059] Chr2:1423147 [GRCh38]
Chr2:1426919 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2598C>T (p.Thr866=) single nucleotide variant not provided [RCV003659290] Chr2:1516962 [GRCh38]
Chr2:1520734 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.95-17G>T single nucleotide variant not provided [RCV003698270] Chr2:1423028 [GRCh38]
Chr2:1426800 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1233G>A (p.Leu411=) single nucleotide variant not provided [RCV003548912] Chr2:1477499 [GRCh38]
Chr2:1481271 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1095C>T (p.Pro365=) single nucleotide variant not provided [RCV003549505] Chr2:1477361 [GRCh38]
Chr2:1481133 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2199_2200dup (p.Glu734fs) duplication not provided [RCV003839677] Chr2:1496179..1496180 [GRCh38]
Chr2:1499951..1499952 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2406C>T (p.Asp802=) single nucleotide variant not provided [RCV003725712] Chr2:1503967 [GRCh38]
Chr2:1507739 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1074C>T (p.Asp358=) single nucleotide variant not provided [RCV003855640] Chr2:1477340 [GRCh38]
Chr2:1481112 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+10G>A single nucleotide variant not provided [RCV003558279] Chr2:1496207 [GRCh38]
Chr2:1499979 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2006+8C>T single nucleotide variant not provided [RCV003851360] Chr2:1494047 [GRCh38]
Chr2:1497819 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1839C>T (p.Ile613=) single nucleotide variant not provided [RCV003717453] Chr2:1493872 [GRCh38]
Chr2:1497644 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1272C>T (p.Leu424=) single nucleotide variant not provided [RCV003840258] Chr2:1477538 [GRCh38]
Chr2:1481310 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2268T>C (p.Cys756=) single nucleotide variant not provided [RCV003664016] Chr2:1496647 [GRCh38]
Chr2:1500419 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2028C>T (p.His676=) single nucleotide variant not provided [RCV003817081] Chr2:1496010 [GRCh38]
Chr2:1499782 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.21G>A (p.Leu7=) single nucleotide variant not provided [RCV003726804] Chr2:1414429 [GRCh38]
Chr2:1418201 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2387-13G>A single nucleotide variant not provided [RCV003664996] Chr2:1503935 [GRCh38]
Chr2:1507707 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1212G>A (p.Thr404=) single nucleotide variant not provided [RCV003670019] Chr2:1477478 [GRCh38]
Chr2:1481250 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1890C>T (p.Asp630=) single nucleotide variant not provided [RCV003701742] Chr2:1493923 [GRCh38]
Chr2:1497695 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.180-6C>T single nucleotide variant not provided [RCV003580677] Chr2:1433432 [GRCh38]
Chr2:1437204 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1203C>T (p.Pro401=) single nucleotide variant not provided [RCV003561709] Chr2:1477469 [GRCh38]
Chr2:1481241 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2664C>T (p.Gly888=) single nucleotide variant not provided [RCV003851049] Chr2:1540639 [GRCh38]
Chr2:1544411 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1110C>A (p.Arg370=) single nucleotide variant not provided [RCV003674416] Chr2:1477376 [GRCh38]
Chr2:1481148 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-18C>G single nucleotide variant not provided [RCV003817410] Chr2:1516865 [GRCh38]
Chr2:1520637 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-9C>T single nucleotide variant not provided [RCV003850670] Chr2:1540585 [GRCh38]
Chr2:1544357 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1768+18C>G single nucleotide variant not provided [RCV003664638] Chr2:1488009 [GRCh38]
Chr2:1491781 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+20C>A single nucleotide variant not provided [RCV003855540] Chr2:1496217 [GRCh38]
Chr2:1499989 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.483-19C>T single nucleotide variant not provided [RCV003839265] Chr2:1453675 [GRCh38]
Chr2:1457447 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1731C>T (p.Ser577=) single nucleotide variant not provided [RCV003672915] Chr2:1487954 [GRCh38]
Chr2:1491726 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2676C>G (p.Pro892=) single nucleotide variant not provided [RCV003726883] Chr2:1540651 [GRCh38]
Chr2:1544423 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.94+15C>T single nucleotide variant not provided [RCV003673024] Chr2:1414517 [GRCh38]
Chr2:1418289 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.492C>A (p.Pro164=) single nucleotide variant not provided [RCV003856267] Chr2:1453703 [GRCh38]
Chr2:1457475 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2394C>T (p.Asn798=) single nucleotide variant not provided [RCV003726890] Chr2:1503955 [GRCh38]
Chr2:1507727 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1598-18G>A single nucleotide variant not provided [RCV003816333] Chr2:1487803 [GRCh38]
Chr2:1491575 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-17C>G single nucleotide variant not provided [RCV003816334] Chr2:1516866 [GRCh38]
Chr2:1520638 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.798A>G (p.Gln266=) single nucleotide variant not provided [RCV003702379] Chr2:1456261 [GRCh38]
Chr2:1460033 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1254C>A (p.Ala418=) single nucleotide variant not provided [RCV003665550] Chr2:1477520 [GRCh38]
Chr2:1481292 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.482+18T>C single nucleotide variant not provided [RCV003723782] Chr2:1436402 [GRCh38]
Chr2:1440174 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.95-17G>A single nucleotide variant not provided [RCV003835139] Chr2:1423028 [GRCh38]
Chr2:1426800 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.1904G>A (p.Trp635Ter) single nucleotide variant not provided [RCV003561417] Chr2:1493937 [GRCh38]
Chr2:1497709 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1715_1716insAATG (p.Leu573fs) insertion not provided [RCV003702131] Chr2:1487938..1487939 [GRCh38]
Chr2:1491710..1491711 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2133C>T (p.Val711=) single nucleotide variant not provided [RCV003725673] Chr2:1496115 [GRCh38]
Chr2:1499887 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2475C>T (p.Cys825=) single nucleotide variant not provided [RCV003717200] Chr2:1504036 [GRCh38]
Chr2:1507808 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2387-14T>C single nucleotide variant not provided [RCV003856401] Chr2:1503934 [GRCh38]
Chr2:1507706 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.349+19C>A single nucleotide variant not provided [RCV003840110] Chr2:1433626 [GRCh38]
Chr2:1437398 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.579C>T (p.Pro193=) single nucleotide variant not provided [RCV003726649] Chr2:1453790 [GRCh38]
Chr2:1457562 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.819+4A>C single nucleotide variant not provided [RCV003559417] Chr2:1456286 [GRCh38]
Chr2:1460058 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1128G>A (p.Ala376=) single nucleotide variant not provided [RCV003668429] Chr2:1477394 [GRCh38]
Chr2:1481166 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1818C>T (p.Pro606=) single nucleotide variant not provided [RCV003836869] Chr2:1493851 [GRCh38]
Chr2:1497623 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2785C>T (p.Leu929=) single nucleotide variant not provided [RCV003701773] Chr2:1542457 [GRCh38]
Chr2:1546229 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1598-19T>C single nucleotide variant not provided [RCV003813833] Chr2:1487802 [GRCh38]
Chr2:1491574 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2430C>T (p.Ala810=) single nucleotide variant not provided [RCV003559105] Chr2:1503991 [GRCh38]
Chr2:1507763 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2518+7C>T single nucleotide variant not provided [RCV003838489] Chr2:1504086 [GRCh38]
Chr2:1507858 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-5C>T single nucleotide variant not provided [RCV003834364] Chr2:1540589 [GRCh38]
Chr2:1544361 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.179+11C>T single nucleotide variant not provided [RCV003816958] Chr2:1423140 [GRCh38]
Chr2:1426912 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1339-18C>T single nucleotide variant not provided [RCV003669467] Chr2:1484578 [GRCh38]
Chr2:1488350 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1077C>T (p.Ser359=) single nucleotide variant not provided [RCV003725735] Chr2:1477343 [GRCh38]
Chr2:1481115 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2518+9G>A single nucleotide variant not provided [RCV003855270] Chr2:1504088 [GRCh38]
Chr2:1507860 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.779_780insTCTA (p.Gln260fs) insertion not provided [RCV003839470] Chr2:1456241..1456242 [GRCh38]
Chr2:1460013..1460014 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.483-7T>C single nucleotide variant not provided [RCV003700969] Chr2:1453687 [GRCh38]
Chr2:1457459 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1597+12C>T single nucleotide variant not provided [RCV003839533] Chr2:1484866 [GRCh38]
Chr2:1488638 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.909G>A (p.Ala303=) single nucleotide variant not provided [RCV003666889] Chr2:1477175 [GRCh38]
Chr2:1480947 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.350-18G>C single nucleotide variant not provided [RCV003836845] Chr2:1436234 [GRCh38]
Chr2:1440006 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2751G>A (p.Glu917=) single nucleotide variant not provided [RCV003669486] Chr2:1542423 [GRCh38]
Chr2:1546195 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.349+14C>T single nucleotide variant not provided [RCV003669575] Chr2:1433621 [GRCh38]
Chr2:1437393 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-13G>A single nucleotide variant not provided [RCV003816093] Chr2:1540581 [GRCh38]
Chr2:1544353 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1136C>G (p.Pro379Arg) single nucleotide variant not provided [RCV003549762] Chr2:1477402 [GRCh38]
Chr2:1481174 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2518+16T>C single nucleotide variant not provided [RCV003702822] Chr2:1504095 [GRCh38]
Chr2:1507867 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-1G>A single nucleotide variant not provided [RCV003702878] Chr2:1456075 [GRCh38]
Chr2:1459847 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.179+13G>A single nucleotide variant not provided [RCV003839749] Chr2:1423142 [GRCh38]
Chr2:1426914 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1113G>T (p.Ala371=) single nucleotide variant not provided [RCV003837922] Chr2:1477379 [GRCh38]
Chr2:1481151 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.681del (p.Asp228fs) deletion not provided [RCV003549901] Chr2:1456144 [GRCh38]
Chr2:1459916 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.780G>A (p.Gln260=) single nucleotide variant not provided [RCV003839780] Chr2:1456243 [GRCh38]
Chr2:1460015 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-18T>C single nucleotide variant not provided [RCV003816653] Chr2:1456058 [GRCh38]
Chr2:1459830 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1488G>A (p.Thr496=) single nucleotide variant not provided [RCV003832820] Chr2:1484745 [GRCh38]
Chr2:1488517 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.819+9del deletion not provided [RCV003833832] Chr2:1456288 [GRCh38]
Chr2:1460060 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.342T>C (p.His114=) single nucleotide variant TPO-related condition [RCV003909112]|not provided [RCV003725188] Chr2:1433600 [GRCh38]
Chr2:1437372 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2518+17C>G single nucleotide variant not provided [RCV003673781] Chr2:1504096 [GRCh38]
Chr2:1507868 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2367C>T (p.Phe789=) single nucleotide variant not provided [RCV003666725] Chr2:1496746 [GRCh38]
Chr2:1500518 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+10G>C single nucleotide variant not provided [RCV003836710] Chr2:1496207 [GRCh38]
Chr2:1499979 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.444G>A (p.Ala148=) single nucleotide variant not provided [RCV003849803] Chr2:1436346 [GRCh38]
Chr2:1440118 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.723C>T (p.Ile241=) single nucleotide variant not provided [RCV003811107] Chr2:1456186 [GRCh38]
Chr2:1459958 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1440T>C (p.Thr480=) single nucleotide variant not provided [RCV003834393] Chr2:1484697 [GRCh38]
Chr2:1488469 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-18C>A single nucleotide variant not provided [RCV003838806] Chr2:1516865 [GRCh38]
Chr2:1520637 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1816C>T (p.Pro606Ser) single nucleotide variant not provided [RCV003717470] Chr2:1493849 [GRCh38]
Chr2:1497621 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.597G>C (p.Gly199=) single nucleotide variant not provided [RCV003724611] Chr2:1453808 [GRCh38]
Chr2:1457580 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1339-10A>G single nucleotide variant not provided [RCV003854477] Chr2:1484586 [GRCh38]
Chr2:1488358 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1062G>T (p.Ala354=) single nucleotide variant not provided [RCV003671947] Chr2:1477328 [GRCh38]
Chr2:1481100 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.414G>A (p.Leu138=) single nucleotide variant not provided [RCV003671975] Chr2:1436316 [GRCh38]
Chr2:1440088 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2247G>A (p.Glu749=) single nucleotide variant not provided [RCV003550205] Chr2:1496626 [GRCh38]
Chr2:1500398 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1188C>T (p.Arg396=) single nucleotide variant not provided [RCV003668254] Chr2:1477454 [GRCh38]
Chr2:1481226 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2718G>A (p.Pro906=) single nucleotide variant not provided [RCV003668305] Chr2:1540693 [GRCh38]
Chr2:1544465 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1338+9G>A single nucleotide variant not provided [RCV003558177] Chr2:1477613 [GRCh38]
Chr2:1481385 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2403A>G (p.Ala801=) single nucleotide variant not provided [RCV003814967] Chr2:1503964 [GRCh38]
Chr2:1507736 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.612+10C>T single nucleotide variant not provided [RCV003725062] Chr2:1453833 [GRCh38]
Chr2:1457605 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1225C>T (p.Leu409=) single nucleotide variant not provided [RCV003667751] Chr2:1477491 [GRCh38]
Chr2:1481263 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.180-20A>G single nucleotide variant not provided [RCV003838348] Chr2:1433418 [GRCh38]
Chr2:1437190 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.462C>T (p.Ile154=) single nucleotide variant not provided [RCV003549499] Chr2:1436364 [GRCh38]
Chr2:1440136 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1308G>A (p.Glu436=) single nucleotide variant not provided [RCV003837376] Chr2:1477574 [GRCh38]
Chr2:1481346 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.612+11A>C single nucleotide variant not provided [RCV003672660] Chr2:1453834 [GRCh38]
Chr2:1457606 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2007-20_2007-17del deletion not provided [RCV003838416] Chr2:1495966..1495969 [GRCh38]
Chr2:1499738..1499741 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.921C>T (p.Asn307=) single nucleotide variant not provided [RCV003702209] Chr2:1477187 [GRCh38]
Chr2:1480959 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.123C>T (p.Ser41=) single nucleotide variant not provided [RCV003833576] Chr2:1423073 [GRCh38]
Chr2:1426845 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1449C>T (p.Asn483=) single nucleotide variant not provided [RCV003724401] Chr2:1484706 [GRCh38]
Chr2:1488478 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.819+17G>A single nucleotide variant not provided [RCV003814788] Chr2:1456299 [GRCh38]
Chr2:1460071 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2604G>A (p.Thr868=) single nucleotide variant not provided [RCV003725492] Chr2:1516968 [GRCh38]
Chr2:1520740 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2100C>A (p.Gly700=) single nucleotide variant not provided [RCV003836437] Chr2:1496082 [GRCh38]
Chr2:1499854 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1650G>A (p.Gln550=) single nucleotide variant not provided [RCV003832716] Chr2:1487873 [GRCh38]
Chr2:1491645 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2646G>A (p.Leu882=) single nucleotide variant not provided [RCV003850764] Chr2:1540621 [GRCh38]
Chr2:1544393 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2457C>T (p.Gly819=) single nucleotide variant not provided [RCV003843349] Chr2:1504018 [GRCh38]
Chr2:1507790 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2006+9del deletion not provided [RCV003729132] Chr2:1494047 [GRCh38]
Chr2:1497819 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1221C>T (p.His407=) single nucleotide variant not provided [RCV003676547] Chr2:1477487 [GRCh38]
Chr2:1481259 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.456G>A (p.Arg152=) single nucleotide variant not provided [RCV003729570] Chr2:1436358 [GRCh38]
Chr2:1440130 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2034C>T (p.Phe678=) single nucleotide variant not provided [RCV003709038] Chr2:1496016 [GRCh38]
Chr2:1499788 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.882C>T (p.Ala294=) single nucleotide variant not provided [RCV003681051] Chr2:1477148 [GRCh38]
Chr2:1480920 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.666TGA[1] (p.Asp224del) microsatellite not provided [RCV003734565] Chr2:1456127..1456129 [GRCh38]
Chr2:1459899..1459901 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2386+2T>G single nucleotide variant not provided [RCV003734566] Chr2:1496767 [GRCh38]
Chr2:1500539 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.825G>T (p.Pro275=) single nucleotide variant not provided [RCV003564974] Chr2:1477091 [GRCh38]
Chr2:1480863 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.350-14C>T single nucleotide variant not provided [RCV003677444] Chr2:1436238 [GRCh38]
Chr2:1440010 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1597+9G>C single nucleotide variant not provided [RCV003567856] Chr2:1484863 [GRCh38]
Chr2:1488635 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1329T>G (p.Ala443=) single nucleotide variant not provided [RCV003676807] Chr2:1477595 [GRCh38]
Chr2:1481367 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.534T>C (p.Pro178=) single nucleotide variant not provided [RCV003553051] Chr2:1453745 [GRCh38]
Chr2:1457517 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-16G>C single nucleotide variant not provided [RCV003862614] Chr2:1456060 [GRCh38]
Chr2:1459832 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-19_613-18del deletion not provided [RCV003552635] Chr2:1456057..1456058 [GRCh38]
Chr2:1459829..1459830 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-12_613-11del microsatellite not provided [RCV003552636] Chr2:1456061..1456062 [GRCh38]
Chr2:1459833..1459834 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.171G>A (p.Thr57=) single nucleotide variant not provided [RCV003555222] Chr2:1423121 [GRCh38]
Chr2:1426893 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+15C>T single nucleotide variant not provided [RCV003847663] Chr2:1496212 [GRCh38]
Chr2:1499984 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.966G>A (p.Ser322=) single nucleotide variant not provided [RCV003845825] Chr2:1477232 [GRCh38]
Chr2:1481004 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.72G>A (p.Ser24=) single nucleotide variant not provided [RCV003731701] Chr2:1414480 [GRCh38]
Chr2:1418252 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1326C>A (p.Gly442=) single nucleotide variant not provided [RCV003552279] Chr2:1477592 [GRCh38]
Chr2:1481364 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2616G>A (p.Arg872=) single nucleotide variant not provided [RCV003840625] Chr2:1516980 [GRCh38]
Chr2:1520752 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1598-11G>A single nucleotide variant not provided [RCV003563817] Chr2:1487810 [GRCh38]
Chr2:1491582 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1830C>T (p.Ser610=) single nucleotide variant not provided [RCV003670645] Chr2:1493863 [GRCh38]
Chr2:1497635 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1578A>G (p.Pro526=) single nucleotide variant not provided [RCV003862026] Chr2:1484835 [GRCh38]
Chr2:1488607 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1872C>T (p.Asp624=) single nucleotide variant not provided [RCV003564128] Chr2:1493905 [GRCh38]
Chr2:1497677 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1257G>A (p.Ala419=) single nucleotide variant not provided [RCV003709643] Chr2:1477523 [GRCh38]
Chr2:1481295 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2007-17T>C single nucleotide variant not provided [RCV003864261] Chr2:1495972 [GRCh38]
Chr2:1499744 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.565C>T (p.Arg189Ter) single nucleotide variant not provided [RCV003823771] Chr2:1453776 [GRCh38]
Chr2:1457548 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1002G>A (p.Pro334=) single nucleotide variant not provided [RCV003820396] Chr2:1477268 [GRCh38]
Chr2:1481040 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.597G>A (p.Gly199=) single nucleotide variant not provided [RCV003818448] Chr2:1453808 [GRCh38]
Chr2:1457580 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+9C>T single nucleotide variant not provided [RCV003729767] Chr2:1496206 [GRCh38]
Chr2:1499978 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1101G>A (p.Val367=) single nucleotide variant not provided [RCV003846818] Chr2:1477367 [GRCh38]
Chr2:1481139 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2518+9G>T single nucleotide variant not provided [RCV003862723] Chr2:1504088 [GRCh38]
Chr2:1507860 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.615C>T (p.Val205=) single nucleotide variant not provided [RCV003820128] Chr2:1456078 [GRCh38]
Chr2:1459850 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1525C>T (p.Gln509Ter) single nucleotide variant not provided [RCV003675460] Chr2:1484782 [GRCh38]
Chr2:1488554 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1110C>T (p.Arg370=) single nucleotide variant not provided [RCV003709683] Chr2:1477376 [GRCh38]
Chr2:1481148 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-14C>G single nucleotide variant not provided [RCV003679686] Chr2:1456062 [GRCh38]
Chr2:1459834 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.612+1G>A single nucleotide variant not provided [RCV003823660] Chr2:1453824 [GRCh38]
Chr2:1457596 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.114T>A (p.Arg38=) single nucleotide variant not provided [RCV003551382] Chr2:1423064 [GRCh38]
Chr2:1426836 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1769-8C>G single nucleotide variant not provided [RCV003820250] Chr2:1493794 [GRCh38]
Chr2:1497566 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1629T>C (p.Leu543=) single nucleotide variant not provided [RCV003820633] Chr2:1487852 [GRCh38]
Chr2:1491624 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1002G>C (p.Pro334=) single nucleotide variant not provided [RCV003730706] Chr2:1477268 [GRCh38]
Chr2:1481040 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1548G>C (p.Gly516=) single nucleotide variant not provided [RCV003678240] Chr2:1484805 [GRCh38]
Chr2:1488577 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2023del (p.Ser675fs) deletion not provided [RCV003566850] Chr2:1496005 [GRCh38]
Chr2:1499777 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.604C>T (p.Leu202=) single nucleotide variant not provided [RCV003860993] Chr2:1453815 [GRCh38]
Chr2:1457587 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2400_2401del (p.Ala801fs) microsatellite not provided [RCV003562649] Chr2:1503958..1503959 [GRCh38]
Chr2:1507730..1507731 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2046G>A (p.Gln682=) single nucleotide variant not provided [RCV003821420] Chr2:1496028 [GRCh38]
Chr2:1499800 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2519-7G>A single nucleotide variant not provided [RCV003567060] Chr2:1516876 [GRCh38]
Chr2:1520648 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.179+20C>T single nucleotide variant not provided [RCV003848134] Chr2:1423149 [GRCh38]
Chr2:1426921 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1188C>G (p.Arg396=) single nucleotide variant not provided [RCV003848165] Chr2:1477454 [GRCh38]
Chr2:1481226 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-5C>T single nucleotide variant not provided [RCV003711676] Chr2:1456071 [GRCh38]
Chr2:1459843 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1282dup (p.Trp428fs) duplication not provided [RCV003683213] Chr2:1477547..1477548 [GRCh38]
Chr2:1481319..1481320 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.769G>A (p.Ala257Thr) single nucleotide variant not provided [RCV003704477] Chr2:1456232 [GRCh38]
Chr2:1460004 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.966G>C (p.Ser322=) single nucleotide variant not provided [RCV003819480] Chr2:1477232 [GRCh38]
Chr2:1481004 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.252C>T (p.Ser84=) single nucleotide variant not provided [RCV003727472] Chr2:1433510 [GRCh38]
Chr2:1437282 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.636C>T (p.Val212=) single nucleotide variant not provided [RCV003845730] Chr2:1456099 [GRCh38]
Chr2:1459871 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.228T>C (p.Phe76=) single nucleotide variant not provided [RCV003823321] Chr2:1433486 [GRCh38]
Chr2:1437258 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.960G>A (p.Leu320=) single nucleotide variant not provided [RCV003712174] Chr2:1477226 [GRCh38]
Chr2:1480998 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.769del (p.Ala257fs) deletion not provided [RCV003541912] Chr2:1456229 [GRCh38]
Chr2:1460001 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.94+8G>A single nucleotide variant not provided [RCV003550906] Chr2:1414510 [GRCh38]
Chr2:1418282 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1236C>T (p.Arg412=) single nucleotide variant not provided [RCV003735886] Chr2:1477502 [GRCh38]
Chr2:1481274 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1380C>T (p.Pro460=) single nucleotide variant not provided [RCV003735887] Chr2:1484637 [GRCh38]
Chr2:1488409 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2346C>T (p.Cys782=) single nucleotide variant not provided [RCV003730931] Chr2:1496725 [GRCh38]
Chr2:1500497 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1339-8C>G single nucleotide variant not provided [RCV003823563] Chr2:1484588 [GRCh38]
Chr2:1488360 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1896C>T (p.Ile632=) single nucleotide variant not provided [RCV003859374] Chr2:1493929 [GRCh38]
Chr2:1497701 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+2T>C single nucleotide variant not provided [RCV003730886] Chr2:1496199 [GRCh38]
Chr2:1499971 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2205C>G (p.Thr735=) single nucleotide variant not provided [RCV003719162] Chr2:1496187 [GRCh38]
Chr2:1499959 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2540_2541inv (p.Val847Ala) inversion not provided [RCV003722041] Chr2:1516904..1516905 [GRCh38]
Chr2:1520676..1520677 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1296C>T (p.Ala432=) single nucleotide variant not provided [RCV003720391] Chr2:1477562 [GRCh38]
Chr2:1481334 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1597+13G>A single nucleotide variant not provided [RCV003853069] Chr2:1484867 [GRCh38]
Chr2:1488639 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1339-2A>G single nucleotide variant not provided [RCV003719338] Chr2:1484594 [GRCh38]
Chr2:1488366 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.1090C>T (p.Leu364=) single nucleotide variant not provided [RCV003709822] Chr2:1477356 [GRCh38]
Chr2:1481128 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.349+9T>C single nucleotide variant not provided [RCV003722364] Chr2:1433616 [GRCh38]
Chr2:1437388 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748+18G>T single nucleotide variant not provided [RCV003708172] Chr2:1540741 [GRCh38]
Chr2:1544513 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.349+20C>G single nucleotide variant not provided [RCV003869322] Chr2:1433627 [GRCh38]
Chr2:1437399 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2481C>T (p.Asp827=) single nucleotide variant not provided [RCV003719217] Chr2:1504042 [GRCh38]
Chr2:1507814 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.804A>C (p.Pro268=) single nucleotide variant not provided [RCV003871426] Chr2:1456267 [GRCh38]
Chr2:1460039 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.513G>A (p.Thr171=) single nucleotide variant not provided [RCV003840969] Chr2:1453724 [GRCh38]
Chr2:1457496 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1011G>A (p.Glu337=) single nucleotide variant not provided [RCV003821346] Chr2:1477277 [GRCh38]
Chr2:1481049 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2478G>A (p.Ala826=) single nucleotide variant not provided [RCV003674993] Chr2:1504039 [GRCh38]
Chr2:1507811 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2655G>A (p.Ser885=) single nucleotide variant not provided [RCV003860215] Chr2:1540630 [GRCh38]
Chr2:1544402 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1755C>T (p.Asp585=) single nucleotide variant not provided [RCV003871685] Chr2:1487978 [GRCh38]
Chr2:1491750 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2025C>T (p.Ser675=) single nucleotide variant not provided [RCV003704356] Chr2:1496007 [GRCh38]
Chr2:1499779 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1716del (p.Leu573fs) deletion not provided [RCV003552616] Chr2:1487938 [GRCh38]
Chr2:1491710 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1995G>A (p.Arg665=) single nucleotide variant not provided [RCV003554619] Chr2:1494028 [GRCh38]
Chr2:1497800 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.489C>T (p.His163=) single nucleotide variant not provided [RCV003868303] Chr2:1453700 [GRCh38]
Chr2:1457472 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1683G>A (p.Thr561=) single nucleotide variant not provided [RCV003868330] Chr2:1487906 [GRCh38]
Chr2:1491678 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.852C>G (p.Thr284=) single nucleotide variant not provided [RCV003842529] Chr2:1477118 [GRCh38]
Chr2:1480890 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1794C>T (p.Cys598=) single nucleotide variant not provided [RCV003704478] Chr2:1493827 [GRCh38]
Chr2:1497599 [GRCh37]
Chr2:2p25.3		 benign
NM_001206744.2(TPO):c.2310C>T (p.His770=) single nucleotide variant not provided [RCV003720399] Chr2:1496689 [GRCh38]
Chr2:1500461 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748+17del deletion not provided [RCV003867898] Chr2:1540739 [GRCh38]
Chr2:1544511 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2487C>T (p.Tyr829=) single nucleotide variant not provided [RCV003872040] Chr2:1504048 [GRCh38]
Chr2:1507820 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2424C>T (p.Cys808=) single nucleotide variant not provided [RCV003729133] Chr2:1503985 [GRCh38]
Chr2:1507757 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.330A>G (p.Gln110=) single nucleotide variant not provided [RCV003868086] Chr2:1433588 [GRCh38]
Chr2:1437360 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.954C>T (p.Asn318=) single nucleotide variant TPO-related condition [RCV003893570]|not provided [RCV003872045] Chr2:1477220 [GRCh38]
Chr2:1480992 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV003872060] Chr2:1414439 [GRCh38]
Chr2:1418211 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2688C>A (p.Cys896Ter) single nucleotide variant not provided [RCV003730729] Chr2:1540663 [GRCh38]
Chr2:1544435 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.450del (p.Lys150fs) deletion not provided [RCV003711140] Chr2:1436350 [GRCh38]
Chr2:1440122 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.738G>A (p.Gln246=) single nucleotide variant not provided [RCV003721863] Chr2:1456201 [GRCh38]
Chr2:1459973 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.483-16dup duplication not provided [RCV003719014] Chr2:1453677..1453678 [GRCh38]
Chr2:1457449..1457450 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.408C>T (p.Tyr136=) single nucleotide variant not provided [RCV003685681] Chr2:1436310 [GRCh38]
Chr2:1440082 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1597+8_1597+11del microsatellite not provided [RCV003859280] Chr2:1484855..1484858 [GRCh38]
Chr2:1488627..1488630 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1339-12C>G single nucleotide variant not provided [RCV003848533] Chr2:1484584 [GRCh38]
Chr2:1488356 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.94+20C>A single nucleotide variant not provided [RCV003685902] Chr2:1414522 [GRCh38]
Chr2:1418294 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2526G>A (p.Gly842=) single nucleotide variant not provided [RCV003685987] Chr2:1516890 [GRCh38]
Chr2:1520662 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748+17C>T single nucleotide variant not provided [RCV003841830] Chr2:1540740 [GRCh38]
Chr2:1544512 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1410T>C (p.Tyr470=) single nucleotide variant not provided [RCV003564818] Chr2:1484667 [GRCh38]
Chr2:1488439 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2649C>T (p.Pro883=) single nucleotide variant not provided [RCV003722826] Chr2:1540624 [GRCh38]
Chr2:1544396 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2037G>A (p.Thr679=) single nucleotide variant not provided [RCV003722825] Chr2:1496019 [GRCh38]
Chr2:1499791 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1140C>T (p.Gly380=) single nucleotide variant not provided [RCV003542698] Chr2:1477406 [GRCh38]
Chr2:1481178 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2259T>C (p.Phe753=) single nucleotide variant not provided [RCV003719230] Chr2:1496638 [GRCh38]
Chr2:1500410 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1476C>T (p.Phe492=) single nucleotide variant not provided [RCV003720349] Chr2:1484733 [GRCh38]
Chr2:1488505 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.717C>T (p.His239=) single nucleotide variant not provided [RCV003720355] Chr2:1456180 [GRCh38]
Chr2:1459952 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2071C>T (p.Leu691=) single nucleotide variant not provided [RCV003565030] Chr2:1496053 [GRCh38]
Chr2:1499825 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1769-1G>T single nucleotide variant not provided [RCV003678908] Chr2:1493801 [GRCh38]
Chr2:1497573 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.1062G>A (p.Ala354=) single nucleotide variant not provided [RCV003727252] Chr2:1477328 [GRCh38]
Chr2:1481100 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.606G>A (p.Leu202=) single nucleotide variant not provided [RCV003845253] Chr2:1453817 [GRCh38]
Chr2:1457589 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.696A>G (p.Ala232=) single nucleotide variant not provided [RCV003733569] Chr2:1456159 [GRCh38]
Chr2:1459931 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.613-8C>T single nucleotide variant not provided [RCV003867626] Chr2:1456068 [GRCh38]
Chr2:1459840 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1464C>T (p.Ala488=) single nucleotide variant not provided [RCV003870271] Chr2:1484721 [GRCh38]
Chr2:1488493 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2386+14T>A single nucleotide variant not provided [RCV003685436] Chr2:1496779 [GRCh38]
Chr2:1500551 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2505G>C (p.Gly835=) single nucleotide variant not provided [RCV003727421] Chr2:1504066 [GRCh38]
Chr2:1507838 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2007-18C>A single nucleotide variant not provided [RCV003860068] Chr2:1495971 [GRCh38]
Chr2:1499743 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.350-2A>C single nucleotide variant not provided [RCV003823108] Chr2:1436250 [GRCh38]
Chr2:1440022 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.2619-18G>T single nucleotide variant not provided [RCV003679280] Chr2:1540576 [GRCh38]
Chr2:1544348 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2727C>T (p.Ala909=) single nucleotide variant not provided [RCV003731867] Chr2:1540702 [GRCh38]
Chr2:1544474 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2451C>G (p.Thr817=) single nucleotide variant not provided [RCV003844093] Chr2:1504012 [GRCh38]
Chr2:1507784 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2006+10T>C single nucleotide variant not provided [RCV003556746] Chr2:1494049 [GRCh38]
Chr2:1497821 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2749-16T>C single nucleotide variant not provided [RCV003685549] Chr2:1542405 [GRCh38]
Chr2:1546177 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1239G>A (p.Glu413=) single nucleotide variant not provided [RCV003708997] Chr2:1477505 [GRCh38]
Chr2:1481277 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1365del (p.Arg456fs) deletion not provided [RCV003681563] Chr2:1484619 [GRCh38]
Chr2:1488391 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.483-14A>G single nucleotide variant not provided [RCV003684622] Chr2:1453680 [GRCh38]
Chr2:1457452 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.523C>T (p.Arg175Ter) single nucleotide variant not provided [RCV003554913] Chr2:1453734 [GRCh38]
Chr2:1457506 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.670_672del (p.Asp224del) deletion not provided [RCV003554914] Chr2:1456133..1456135 [GRCh38]
Chr2:1459905..1459907 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1581G>T (p.Trp527Cys) single nucleotide variant not provided [RCV003554915] Chr2:1484838 [GRCh38]
Chr2:1488610 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.1682C>T (p.Thr561Met) single nucleotide variant not provided [RCV003554916] Chr2:1487905 [GRCh38]
Chr2:1491677 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp) single nucleotide variant not provided [RCV003554917] Chr2:1494026 [GRCh38]
Chr2:1497798 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2059G>T (p.Glu687Ter) single nucleotide variant not provided [RCV003554918] Chr2:1496041 [GRCh38]
Chr2:1499813 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2266T>C (p.Cys756Arg) single nucleotide variant not provided [RCV003554919] Chr2:1496645 [GRCh38]
Chr2:1500417 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2413del (p.His805fs) deletion not provided [RCV003554920] Chr2:1503972 [GRCh38]
Chr2:1507744 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.711C>T (p.Ile237=) single nucleotide variant not provided [RCV003677795] Chr2:1456174 [GRCh38]
Chr2:1459946 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2754T>C (p.Ser918=) single nucleotide variant not provided [RCV003736282] Chr2:1542426 [GRCh38]
Chr2:1546198 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.945G>A (p.Gln315=) single nucleotide variant not provided [RCV003861989] Chr2:1477211 [GRCh38]
Chr2:1480983 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter) single nucleotide variant not provided [RCV003865406] Chr2:1477305 [GRCh38]
Chr2:1481077 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2157G>A (p.Glu719=) single nucleotide variant not provided [RCV003681965] Chr2:1496139 [GRCh38]
Chr2:1499911 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748+7C>T single nucleotide variant not provided [RCV003705919] Chr2:1540730 [GRCh38]
Chr2:1544502 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2010T>C (p.Phe670=) single nucleotide variant not provided [RCV003865494] Chr2:1495992 [GRCh38]
Chr2:1499764 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1311G>A (p.Ala437=) single nucleotide variant not provided [RCV003865663] Chr2:1477577 [GRCh38]
Chr2:1481349 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.414G>C (p.Leu138=) single nucleotide variant not provided [RCV003823440] Chr2:1436316 [GRCh38]
Chr2:1440088 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1857C>T (p.Ala619=) single nucleotide variant not provided [RCV003734798] Chr2:1493890 [GRCh38]
Chr2:1497662 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2580A>G (p.Gly860=) single nucleotide variant not provided [RCV003542617] Chr2:1516944 [GRCh38]
Chr2:1520716 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2618+13C>T single nucleotide variant not provided [RCV003820489] Chr2:1516995 [GRCh38]
Chr2:1520767 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2749-12G>A single nucleotide variant not provided [RCV003683572] Chr2:1542409 [GRCh38]
Chr2:1546181 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2801G>A (p.Ter934=) single nucleotide variant not provided [RCV003718726] Chr2:1542473 [GRCh38]
Chr2:1546245 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1262_1338+54del deletion not provided [RCV003567198] Chr2:1477523..1477653 [GRCh38]
Chr2:1481295..1481425 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.552C>T (p.Gly184=) single nucleotide variant not provided [RCV003733477] Chr2:1453763 [GRCh38]
Chr2:1457535 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1335C>T (p.His445=) single nucleotide variant not provided [RCV003864093] Chr2:1477601 [GRCh38]
Chr2:1481373 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1598-14A>G single nucleotide variant not provided [RCV003840592] Chr2:1487807 [GRCh38]
Chr2:1491579 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2146G>A (p.Glu716Lys) single nucleotide variant not provided [RCV003735566] Chr2:1496128 [GRCh38]
Chr2:1499900 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1809G>A (p.Leu603=) single nucleotide variant not provided [RCV003674418] Chr2:1493842 [GRCh38]
Chr2:1497614 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.438C>T (p.Cys146=) single nucleotide variant not provided [RCV003858187] Chr2:1436340 [GRCh38]
Chr2:1440112 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1738C>T (p.Leu580=) single nucleotide variant not provided [RCV003676860] Chr2:1487961 [GRCh38]
Chr2:1491733 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-20T>C single nucleotide variant not provided [RCV003678476] Chr2:1540574 [GRCh38]
Chr2:1544346 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2535T>C (p.Pro845=) single nucleotide variant not provided [RCV003844157] Chr2:1516899 [GRCh38]
Chr2:1520671 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1293C>T (p.Asp431=) single nucleotide variant not provided [RCV003681309] Chr2:1477559 [GRCh38]
Chr2:1481331 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.95-1G>C single nucleotide variant not provided [RCV003670562] Chr2:1423044 [GRCh38]
Chr2:1426816 [GRCh37]
Chr2:2p25.3		 likely pathogenic
NM_001206744.2(TPO):c.453C>T (p.Tyr151=) single nucleotide variant not provided [RCV003841776] Chr2:1436355 [GRCh38]
Chr2:1440127 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2472_2473del (p.Cys825fs) microsatellite not provided [RCV003676891] Chr2:1504030..1504031 [GRCh38]
Chr2:1507802..1507803 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2295G>A (p.Val765=) single nucleotide variant not provided [RCV003820715] Chr2:1496674 [GRCh38]
Chr2:1500446 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.834C>A (p.Ala278=) single nucleotide variant not provided [RCV003865993] Chr2:1477100 [GRCh38]
Chr2:1480872 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2340C>T (p.Leu780=) single nucleotide variant not provided [RCV003844863] Chr2:1496719 [GRCh38]
Chr2:1500491 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1586T>G (p.Leu529Ter) single nucleotide variant not provided [RCV003679938] Chr2:1484843 [GRCh38]
Chr2:1488615 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2618+19G>T single nucleotide variant not provided [RCV003704035] Chr2:1517001 [GRCh38]
Chr2:1520773 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1338+16C>T single nucleotide variant not provided [RCV003675989] Chr2:1477620 [GRCh38]
Chr2:1481392 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1768+20T>C single nucleotide variant not provided [RCV003844579] Chr2:1488011 [GRCh38]
Chr2:1491783 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1338+21_1338+29del deletion not provided [RCV003563785] Chr2:1477619..1477627 [GRCh38]
Chr2:1481391..1481399 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.879G>A (p.Ser293=) single nucleotide variant not provided [RCV003735845] Chr2:1477145 [GRCh38]
Chr2:1480917 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.820-8G>T single nucleotide variant not provided [RCV003677203] Chr2:1477078 [GRCh38]
Chr2:1480850 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.549C>T (p.Asp183=) single nucleotide variant not provided [RCV003550393] Chr2:1453760 [GRCh38]
Chr2:1457532 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2691A>C (p.Gly897=) single nucleotide variant not provided [RCV003732858] Chr2:1540666 [GRCh38]
Chr2:1544438 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.94+7A>G single nucleotide variant not provided [RCV003822297] Chr2:1414509 [GRCh38]
Chr2:1418281 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.778C>T (p.Gln260Ter) single nucleotide variant not provided [RCV003842264] Chr2:1456241 [GRCh38]
Chr2:1460013 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_001206744.2(TPO):c.2664C>A (p.Gly888=) single nucleotide variant not provided [RCV003551534] Chr2:1540639 [GRCh38]
Chr2:1544411 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.633T>C (p.His211=) single nucleotide variant not provided [RCV003680280] Chr2:1456096 [GRCh38]
Chr2:1459868 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1779G>A (p.Glu593=) single nucleotide variant not provided [RCV003733025] Chr2:1493812 [GRCh38]
Chr2:1497584 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1146C>T (p.Pro382=) single nucleotide variant not provided [RCV003712481] Chr2:1477412 [GRCh38]
Chr2:1481184 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.81A>G (p.Lys27=) single nucleotide variant not provided [RCV003731750] Chr2:1414489 [GRCh38]
Chr2:1418261 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2388T>C (p.Asp796=) single nucleotide variant not provided [RCV003553512] Chr2:1503949 [GRCh38]
Chr2:1507721 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1137C>G (p.Pro379=) single nucleotide variant not provided [RCV003848228] Chr2:1477403 [GRCh38]
Chr2:1481175 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2215+19T>G single nucleotide variant not provided [RCV003857313] Chr2:1496216 [GRCh38]
Chr2:1499988 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1623C>T (p.Gly541=) single nucleotide variant not provided [RCV003550629] Chr2:1487846 [GRCh38]
Chr2:1491618 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1605G>A (p.Leu535=) single nucleotide variant not provided [RCV003706808] Chr2:1487828 [GRCh38]
Chr2:1491600 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.820-12C>G single nucleotide variant not provided [RCV003566489] Chr2:1477074 [GRCh38]
Chr2:1480846 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1509G>A (p.Arg503=) single nucleotide variant not provided [RCV003729079] Chr2:1484766 [GRCh38]
Chr2:1488538 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2595C>T (p.Leu865=) single nucleotide variant not provided [RCV003841221] Chr2:1516959 [GRCh38]
Chr2:1520731 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2386+19G>A single nucleotide variant not provided [RCV003860150] Chr2:1496784 [GRCh38]
Chr2:1500556 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.820-15C>A single nucleotide variant not provided [RCV003550862] Chr2:1477071 [GRCh38]
Chr2:1480843 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2757T>G (p.Ala919=) single nucleotide variant not provided [RCV003567313] Chr2:1542429 [GRCh38]
Chr2:1546201 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2619-14C>T single nucleotide variant not provided [RCV003847012] Chr2:1540580 [GRCh38]
Chr2:1544352 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748+20A>G single nucleotide variant not provided [RCV003819006] Chr2:1540743 [GRCh38]
Chr2:1544515 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.1769-15C>G single nucleotide variant not provided [RCV003565287] Chr2:1493787 [GRCh38]
Chr2:1497559 [GRCh37]
Chr2:2p25.3		 likely benign
NM_001206744.2(TPO):c.2748G>A (p.Gln916=) single nucleotide variant TPO-related condition [RCV003982666] Chr2:1540723 [GRCh38]
Chr2:1544495 [GRCh37]
Chr2:2p25.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3749
Count of miRNA genes:1087
Interacting mature miRNAs:1343
Transcripts:ENST00000329066, ENST00000337415, ENST00000345913, ENST00000346956, ENST00000349624, ENST00000382198, ENST00000382201, ENST00000382269, ENST00000422464, ENST00000423320, ENST00000425083, ENST00000446278, ENST00000462973, ENST00000469607, ENST00000479902, ENST00000497517, ENST00000539820
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D8S2035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,546,314 - 1,546,450UniSTSGRCh37
Build 3621,525,321 - 1,525,457RGDNCBI36
Celera21,592,238 - 1,592,374RGD
Cytogenetic Map2p25UniSTS
HuRef21,531,756 - 1,531,892UniSTS
TNG Radiation Hybrid Map21443.0UniSTS
Stanford-G3 RH Map25.0UniSTS
NCBI RH Map215.5UniSTS
GeneMap99-G3 RH Map20.0UniSTS
GDB:180406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,491,361 - 1,492,101UniSTSGRCh37
Build 3621,470,368 - 1,471,108RGDNCBI36
Celera21,539,555 - 1,540,295RGD
Cytogenetic Map2p25UniSTS
HuRef21,481,826 - 1,482,566UniSTS
GDB:181259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,500,807 - 1,501,517UniSTSGRCh37
Build 3621,479,814 - 1,480,524RGDNCBI36
Celera21,548,851 - 1,549,561RGD
Cytogenetic Map2p25UniSTS
HuRef21,491,222 - 1,491,932UniSTS
GDB:196990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,480,840 - 1,481,595UniSTSGRCh37
Build 3621,459,847 - 1,460,602RGDNCBI36
Celera21,529,032 - 1,529,787RGD
Cytogenetic Map2p25UniSTS
HuRef21,471,303 - 1,472,058UniSTS
GDB:197520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,416,363 - 1,417,308UniSTSGRCh37
Build 3621,395,370 - 1,396,315RGDNCBI36
Celera21,466,083 - 1,467,028RGD
Cytogenetic Map2p25UniSTS
HuRef21,407,925 - 1,408,870UniSTS
GDB:196336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,493,368 - 1,493,481UniSTSGRCh37
Build 3621,472,375 - 1,472,488RGDNCBI36
Celera21,541,562 - 1,541,675RGD
Cytogenetic Map2p25UniSTS
HuRef21,483,833 - 1,483,946UniSTS
D2S1515E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,503,627 - 1,503,843UniSTSGRCh37
Build 3621,482,634 - 1,482,850RGDNCBI36
Celera21,551,671 - 1,551,887RGD
Cytogenetic Map2p25UniSTS
HuRef21,494,042 - 1,494,258UniSTS
GeneMap99-GB4 RH Map220.44UniSTS
NCBI RH Map216.5UniSTS
RH48044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,545,591 - 1,545,776UniSTSGRCh37
Build 3621,524,598 - 1,524,783RGDNCBI36
Celera21,591,515 - 1,591,700RGD
Cytogenetic Map2p25UniSTS
HuRef21,531,033 - 1,531,218UniSTS
GeneMap99-GB4 RH Map224.11UniSTS
NCBI RH Map216.5UniSTS
TPOX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,493,389 - 1,493,620UniSTSGRCh37
Build 3621,472,396 - 1,472,627RGDNCBI36
Celera21,541,583 - 1,541,814RGD
Cytogenetic Map2p25UniSTS
HuRef21,483,854 - 1,484,085UniSTS


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 415 415
Medium 172 33 282 1 229 391 152 95 2 1 288 1 355 108
Low 1989 1627 169 167 310 15 3219 1950 828 25 683 250 154 842 2352
Below cutoff 179 1262 602 216 957 208 648 47 2626 151 639 471 10 7 326 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC141930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF439430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW874082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE046044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB986756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD608890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA958481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ011222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M17755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M68651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH137703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW589451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW589452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW660360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329066   ⟹   ENSP00000329869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,413,463 - 1,543,673 (+)Ensembl
RefSeq Acc Id: ENST00000345913   ⟹   ENSP00000318820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,413,461 - 1,542,726 (+)Ensembl
RefSeq Acc Id: ENST00000346956   ⟹   ENSP00000263886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,414,408 - 1,542,726 (+)Ensembl
RefSeq Acc Id: ENST00000382198   ⟹   ENSP00000371633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,414,409 - 1,542,474 (+)Ensembl
RefSeq Acc Id: ENST00000382201   ⟹   ENSP00000371636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,413,480 - 1,542,727 (+)Ensembl
RefSeq Acc Id: ENST00000382269   ⟹   ENSP00000371704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,413,461 - 1,439,402 (+)Ensembl
RefSeq Acc Id: ENST00000422464   ⟹   ENSP00000405788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,433,472 - 1,543,711 (+)Ensembl
RefSeq Acc Id: ENST00000423320   ⟹   ENSP00000390994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,414,382 - 1,453,726 (+)Ensembl
RefSeq Acc Id: ENST00000425083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,503,777 - 1,542,727 (+)Ensembl
RefSeq Acc Id: ENST00000446278   ⟹   ENSP00000400033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,484,663 - 1,542,660 (+)Ensembl
RefSeq Acc Id: ENST00000462973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,484,669 - 1,516,982 (+)Ensembl
RefSeq Acc Id: ENST00000469607   ⟹   ENSP00000419461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,484,665 - 1,542,649 (+)Ensembl
RefSeq Acc Id: ENST00000479902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,513,433 - 1,542,529 (+)Ensembl
RefSeq Acc Id: ENST00000497517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,374,223 - 1,542,822 (+)Ensembl
RefSeq Acc Id: ENST00000539820   ⟹   ENSP00000444840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,413,461 - 1,439,399 (+)Ensembl
RefSeq Acc Id: ENST00000650224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,374,066 - 1,409,266 (+)Ensembl
RefSeq Acc Id: NM_000547   ⟹   NP_000538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
GRCh3721,417,233 - 1,547,445 (+)NCBI
Build 3621,396,242 - 1,525,502 (+)NCBI Archive
HuRef21,408,795 - 1,531,941 (+)ENTREZGENE
CHM1_121,409,624 - 1,546,343 (+)NCBI
T2T-CHM13v2.021,415,099 - 1,549,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206744   ⟹   NP_001193673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
GRCh3721,417,233 - 1,547,445 (+)NCBI
HuRef21,408,795 - 1,531,941 (+)ENTREZGENE
CHM1_121,409,624 - 1,546,343 (+)NCBI
T2T-CHM13v2.021,415,099 - 1,549,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206745   ⟹   NP_001193674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
GRCh3721,417,233 - 1,547,445 (+)NCBI
HuRef21,408,795 - 1,531,941 (+)ENTREZGENE
CHM1_121,409,624 - 1,546,343 (+)NCBI
T2T-CHM13v2.021,415,099 - 1,549,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_175719   ⟹   NP_783650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
GRCh3721,417,233 - 1,547,445 (+)NCBI
Build 3621,396,242 - 1,525,502 (+)NCBI Archive
HuRef21,408,795 - 1,531,941 (+)ENTREZGENE
CHM1_121,409,624 - 1,546,343 (+)NCBI
T2T-CHM13v2.021,415,099 - 1,549,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_175721   ⟹   NP_783652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,414,408 - 1,542,727 (+)NCBI
GRCh3721,417,233 - 1,547,445 (+)NCBI
Build 3621,396,242 - 1,525,502 (+)NCBI Archive
HuRef21,408,795 - 1,531,941 (+)ENTREZGENE
CHM1_121,410,571 - 1,546,343 (+)NCBI
T2T-CHM13v2.021,416,044 - 1,548,144 (+)NCBI
Sequence:
RefSeq Acc Id: NM_175722   ⟹   NP_783653
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,414,408 - 1,542,727 (+)NCBI
GRCh3721,417,233 - 1,547,445 (+)NCBI
Build 3621,396,242 - 1,525,502 (+)NCBI Archive
HuRef21,408,795 - 1,531,941 (+)ENTREZGENE
CHM1_121,410,571 - 1,546,343 (+)NCBI
T2T-CHM13v2.021,416,044 - 1,548,144 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510380   ⟹   XP_011508682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453085   ⟹   XP_024308853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,541,828 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453087   ⟹   XP_024308855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,541,828 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453088   ⟹   XP_024308856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,541,828 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453089   ⟹   XP_024308857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,047 - 1,541,828 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453090   ⟹   XP_024308858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453091   ⟹   XP_024308859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453092   ⟹   XP_024308860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453093   ⟹   XP_024308861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445652   ⟹   XP_047301608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,047 - 1,541,828 (+)NCBI
RefSeq Acc Id: XM_047445653   ⟹   XP_047301609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,047 - 1,541,828 (+)NCBI
RefSeq Acc Id: XM_047445654   ⟹   XP_047301610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,047 - 1,541,828 (+)NCBI
RefSeq Acc Id: XM_047445655   ⟹   XP_047301611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,047 - 1,541,828 (+)NCBI
RefSeq Acc Id: XM_047445656   ⟹   XP_047301612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,047 - 1,541,828 (+)NCBI
RefSeq Acc Id: XM_047445657   ⟹   XP_047301613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,543,673 (+)NCBI
RefSeq Acc Id: XM_054343639   ⟹   XP_054199614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,198 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343640   ⟹   XP_054199615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,099 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343641   ⟹   XP_054199616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,099 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343642   ⟹   XP_054199617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,414,928 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343643   ⟹   XP_054199618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,197 - 1,547,245 (+)NCBI
RefSeq Acc Id: XM_054343644   ⟹   XP_054199619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,201 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343645   ⟹   XP_054199620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,197 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343646   ⟹   XP_054199621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,196 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343647   ⟹   XP_054199622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,199 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343648   ⟹   XP_054199623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,199 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343649   ⟹   XP_054199624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,201 - 1,549,090 (+)NCBI
RefSeq Acc Id: XM_054343650   ⟹   XP_054199625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,415,197 - 1,549,090 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193673 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193674 (Get FASTA)   NCBI Sequence Viewer  
  NP_783650 (Get FASTA)   NCBI Sequence Viewer  
  NP_783652 (Get FASTA)   NCBI Sequence Viewer  
  NP_783653 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508682 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308853 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308855 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308856 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308857 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308858 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308859 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308860 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308861 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301608 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301609 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301610 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301611 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301612 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301613 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199614 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199615 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199616 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199622 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199623 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199624 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199625 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61215 (Get FASTA)   NCBI Sequence Viewer  
  AAA61216 (Get FASTA)   NCBI Sequence Viewer  
  AAA61217 (Get FASTA)   NCBI Sequence Viewer  
  AAA61218 (Get FASTA)   NCBI Sequence Viewer  
  AAA61219 (Get FASTA)   NCBI Sequence Viewer  
  AAB23676 (Get FASTA)   NCBI Sequence Viewer  
  AAB23677 (Get FASTA)   NCBI Sequence Viewer  
  AAD14120 (Get FASTA)   NCBI Sequence Viewer  
  AAH63107 (Get FASTA)   NCBI Sequence Viewer  
  AAH95448 (Get FASTA)   NCBI Sequence Viewer  
  AAL74416 (Get FASTA)   NCBI Sequence Viewer  
  AAN04471 (Get FASTA)   NCBI Sequence Viewer  
  AAN04472 (Get FASTA)   NCBI Sequence Viewer  
  AAN04473 (Get FASTA)   NCBI Sequence Viewer  
  AAN04474 (Get FASTA)   NCBI Sequence Viewer  
  AAN11302 (Get FASTA)   NCBI Sequence Viewer  
  AAX82037 (Get FASTA)   NCBI Sequence Viewer  
  AAX93261 (Get FASTA)   NCBI Sequence Viewer  
  AAY16985 (Get FASTA)   NCBI Sequence Viewer  
  AZT78995 (Get FASTA)   NCBI Sequence Viewer  
  BAD92197 (Get FASTA)   NCBI Sequence Viewer  
  CAA35235 (Get FASTA)   NCBI Sequence Viewer  
  CAA68467 (Get FASTA)   NCBI Sequence Viewer  
  EAX01087 (Get FASTA)   NCBI Sequence Viewer  
  EAX01088 (Get FASTA)   NCBI Sequence Viewer  
  EAX01089 (Get FASTA)   NCBI Sequence Viewer  
  EAX01090 (Get FASTA)   NCBI Sequence Viewer  
  EAX01091 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263886
  ENSP00000263886.6
  ENSP00000318820
  ENSP00000318820.7
  ENSP00000329869
  ENSP00000329869.4
  ENSP00000371633
  ENSP00000371633.1
  ENSP00000371636
  ENSP00000371636.3
  ENSP00000371704.3
  ENSP00000390994.1
  ENSP00000400033.1
  ENSP00000405788
  ENSP00000405788.1
  ENSP00000419461.1
  ENSP00000444840.1
GenBank Protein P07202 (Get FASTA)   NCBI Sequence Viewer  
  URX64900 (Get FASTA)   NCBI Sequence Viewer  
  URX64901 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000538   ⟸   NM_000547
- Peptide Label: isoform a precursor
- UniProtKB: Q8NF97 (UniProtKB/Swiss-Prot),   Q8NF96 (UniProtKB/Swiss-Prot),   Q8NF95 (UniProtKB/Swiss-Prot),   Q8NF94 (UniProtKB/Swiss-Prot),   Q8IUL0 (UniProtKB/Swiss-Prot),   P09935 (UniProtKB/Swiss-Prot),   P09934 (UniProtKB/Swiss-Prot),   Q8TCI9 (UniProtKB/Swiss-Prot),   P07202 (UniProtKB/Swiss-Prot),   Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_783650   ⟸   NM_175719
- Peptide Label: isoform b precursor
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193673   ⟸   NM_001206744
- Peptide Label: isoform a precursor
- UniProtKB: Q8NF97 (UniProtKB/Swiss-Prot),   Q8NF96 (UniProtKB/Swiss-Prot),   Q8NF95 (UniProtKB/Swiss-Prot),   Q8NF94 (UniProtKB/Swiss-Prot),   Q8IUL0 (UniProtKB/Swiss-Prot),   P09935 (UniProtKB/Swiss-Prot),   P09934 (UniProtKB/Swiss-Prot),   Q8TCI9 (UniProtKB/Swiss-Prot),   P07202 (UniProtKB/Swiss-Prot),   Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193674   ⟸   NM_001206745
- Peptide Label: isoform b precursor
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_783652   ⟸   NM_175721
- Peptide Label: isoform d precursor
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_783653   ⟸   NM_175722
- Peptide Label: isoform e precursor
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508682   ⟸   XM_011510380
- Peptide Label: isoform X2
- UniProtKB: Q53QT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308857   ⟸   XM_024453089
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308855   ⟸   XM_024453087
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308856   ⟸   XM_024453088
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308853   ⟸   XM_024453085
- Peptide Label: isoform X1
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308860   ⟸   XM_024453092
- Peptide Label: isoform X7
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308858   ⟸   XM_024453090
- Peptide Label: isoform X4
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308859   ⟸   XM_024453091
- Peptide Label: isoform X6
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308861   ⟸   XM_024453093
- Peptide Label: isoform X8
- UniProtKB: Q502Y3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000390994   ⟸   ENST00000423320
RefSeq Acc Id: ENSP00000318820   ⟸   ENST00000345913
RefSeq Acc Id: ENSP00000263886   ⟸   ENST00000346956
RefSeq Acc Id: ENSP00000419461   ⟸   ENST00000469607
RefSeq Acc Id: ENSP00000400033   ⟸   ENST00000446278
RefSeq Acc Id: ENSP00000329869   ⟸   ENST00000329066
RefSeq Acc Id: ENSP00000444840   ⟸   ENST00000539820
RefSeq Acc Id: ENSP00000371636   ⟸   ENST00000382201
RefSeq Acc Id: ENSP00000371704   ⟸   ENST00000382269
RefSeq Acc Id: ENSP00000371633   ⟸   ENST00000382198
RefSeq Acc Id: ENSP00000405788   ⟸   ENST00000422464
RefSeq Acc Id: XP_047301608   ⟸   XM_047445652
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301611   ⟸   XM_047445655
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301610   ⟸   XM_047445654
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301612   ⟸   XM_047445656
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301609   ⟸   XM_047445653
- Peptide Label: isoform X3
- UniProtKB: H0Y6H4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047301613   ⟸   XM_047445657
- Peptide Label: isoform X5
- UniProtKB: Q53QT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199617   ⟸   XM_054343642
- Peptide Label: isoform X10
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199615   ⟸   XM_054343640
- Peptide Label: isoform X10
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199616   ⟸   XM_054343641
- Peptide Label: isoform X10
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199621   ⟸   XM_054343646
- Peptide Label: isoform X13
- UniProtKB: Q53QT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199620   ⟸   XM_054343645
- Peptide Label: isoform X12
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199625   ⟸   XM_054343650
- Peptide Label: isoform X15
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199618   ⟸   XM_054343643
- Peptide Label: isoform X1
- UniProtKB: Q59GZ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199614   ⟸   XM_054343639
- Peptide Label: isoform X9
- UniProtKB: Q53QT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199622   ⟸   XM_054343647
- Peptide Label: isoform X14
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199623   ⟸   XM_054343648
- Peptide Label: isoform X4
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199619   ⟸   XM_054343644
- Peptide Label: isoform X11
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199624   ⟸   XM_054343649
- Peptide Label: isoform X6
- UniProtKB: A0M8X1 (UniProtKB/TrEMBL)
Protein Domains
EGF-like   Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07202-F1-model_v2 AlphaFold P07202 1-933 view protein structure

Promoters
RGD ID:6859532
Promoter ID:EPDNEW_H2931
Type:initiation region
Name:TPO_1
Description:thyroid peroxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2932  EPDNEW_H2933  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,374,098 - 1,374,158EPDNEW
RGD ID:6859534
Promoter ID:EPDNEW_H2932
Type:multiple initiation site
Name:TPO_2
Description:thyroid peroxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2931  EPDNEW_H2933  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,413,463 - 1,413,523EPDNEW
RGD ID:6859536
Promoter ID:EPDNEW_H2933
Type:initiation region
Name:TPO_3
Description:thyroid peroxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2931  EPDNEW_H2932  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,414,406 - 1,414,466EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12015 AgrOrtholog
COSMIC TPO COSMIC
Ensembl Genes ENSG00000115705 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329066 ENTREZGENE
  ENST00000329066.9 UniProtKB/Swiss-Prot
  ENST00000345913 ENTREZGENE
  ENST00000345913.8 UniProtKB/Swiss-Prot
  ENST00000346956 ENTREZGENE
  ENST00000346956.7 UniProtKB/Swiss-Prot
  ENST00000382198 ENTREZGENE
  ENST00000382198.5 UniProtKB/Swiss-Prot
  ENST00000382201 ENTREZGENE
  ENST00000382201.7 UniProtKB/Swiss-Prot
  ENST00000382269.7 UniProtKB/TrEMBL
  ENST00000422464 ENTREZGENE
  ENST00000422464.5 UniProtKB/TrEMBL
  ENST00000423320.5 UniProtKB/TrEMBL
  ENST00000446278.5 UniProtKB/TrEMBL
  ENST00000469607.3 UniProtKB/TrEMBL
  ENST00000539820.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115705 GTEx
HGNC ID HGNC:12015 ENTREZGENE
Human Proteome Map TPO Human Proteome Map
InterPro EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Haem_peroxidase_sf_animal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7173 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7173 ENTREZGENE
OMIM 606765 OMIM
PANTHER OXIDASE/PEROXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11475:SF60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam An_peroxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36694 PharmGKB
PRINTS ANPEROXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEROXIDASE_1 UniProtKB/Swiss-Prot
  PEROXIDASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3T0CIT9_HUMAN UniProtKB/TrEMBL
  A0M8X1 ENTREZGENE, UniProtKB/TrEMBL
  C9J511_HUMAN UniProtKB/TrEMBL
  E9PFM6_HUMAN UniProtKB/TrEMBL
  H0Y6H4 ENTREZGENE, UniProtKB/TrEMBL
  H7C1F5_HUMAN UniProtKB/TrEMBL
  H7C5B6_HUMAN UniProtKB/TrEMBL
  P07202 ENTREZGENE
  P09934 ENTREZGENE
  P09935 ENTREZGENE
  PERT_HUMAN UniProtKB/Swiss-Prot
  Q16495_HUMAN UniProtKB/TrEMBL
  Q16496_HUMAN UniProtKB/TrEMBL
  Q502Y3 ENTREZGENE, UniProtKB/TrEMBL
  Q53QT2 ENTREZGENE, UniProtKB/TrEMBL
  Q57YV8_HUMAN UniProtKB/TrEMBL
  Q59GZ9 ENTREZGENE, UniProtKB/TrEMBL
  Q6P534_HUMAN UniProtKB/TrEMBL
  Q8IUL0 ENTREZGENE
  Q8NF94 ENTREZGENE
  Q8NF95 ENTREZGENE
  Q8NF96 ENTREZGENE
  Q8NF97 ENTREZGENE
  Q8TCI9 ENTREZGENE
UniProt Secondary P09934 UniProtKB/Swiss-Prot
  P09935 UniProtKB/Swiss-Prot
  Q8IUL0 UniProtKB/Swiss-Prot
  Q8NF94 UniProtKB/Swiss-Prot
  Q8NF95 UniProtKB/Swiss-Prot
  Q8NF96 UniProtKB/Swiss-Prot
  Q8NF97 UniProtKB/Swiss-Prot
  Q8TCI9 UniProtKB/Swiss-Prot