MPL (MPL proto-oncogene, thrombopoietin receptor) - Rat Genome Database

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Gene: MPL (MPL proto-oncogene, thrombopoietin receptor) Homo sapiens
Analyze
Symbol: MPL
Name: MPL proto-oncogene, thrombopoietin receptor
RGD ID: 1322330
HGNC Page HGNC:7217
Description: Enables thrombopoietin receptor activity. Predicted to be involved in hemopoiesis; positive regulation of cell population proliferation; and thrombopoietin-mediated signaling pathway. Predicted to act upstream of or within several processes, including hemopoiesis; regulation of gene expression; and regulation of stem cell division. Located in several cellular components, including Golgi apparatus; cell surface; and nuclear membrane. Implicated in congenital amegakaryocytic thrombocytopenia; essential thrombocythemia; myelofibrosis; thrombocytopenia; and thrombocytosis. Biomarker of essential thrombocythemia; hepatitis B; hepatitis C; and myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-MPL; CD110; MPLV; myeloproliferative leukemia protein; myeloproliferative leukemia virus oncogene; proto-oncogene c-Mpl; THCYT2; THPOR; thrombopoietin receptor; TPO-R; TPOR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38143,337,818 - 43,354,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl143,337,818 - 43,354,466 (+)EnsemblGRCh38hg38GRCh38
GRCh37143,803,489 - 43,820,137 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,576,062 - 43,592,722 (+)NCBINCBI36Build 36hg18NCBI36
Build 34143,472,567 - 43,489,228NCBI
Celera142,085,625 - 42,102,280 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef141,923,380 - 41,939,975 (+)NCBIHuRef
CHM1_1143,919,946 - 43,936,585 (+)NCBICHM1_1
T2T-CHM13v2.0143,208,365 - 43,225,013 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal hemoglobin  (IAGP)
Abnormal megakaryocyte morphology  (IAGP)
Abnormal platelet morphology  (IAGP)
Acute leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Amaurosis fugax  (IAGP)
Amegakaryocytic thrombocytopenia  (IAGP)
Anemia  (IAGP)
Angina pectoris  (IAGP)
Anorexia  (IAGP)
Arterial thrombosis  (IAGP)
Arthralgia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bruising susceptibility  (IAGP)
Budd-Chiari syndrome  (IAGP)
Cachexia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Chest pain  (IAGP)
Chronic myelogenous leukemia  (IAGP)
Coarse facial features  (IAGP)
Decreased skull ossification  (IAGP)
Dysarthria  (IAGP)
Easy fatigability  (IAGP)
Ecchymosis  (IAGP)
Epistaxis  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flank pain  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gingival bleeding  (IAGP)
Headache  (IAGP)
Hemangioma  (IAGP)
Hematological neoplasm  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperhidrosis  (IAGP)
Hypertension  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased megakaryocyte count  (IAGP)
Intermittent claudication  (IAGP)
Leukocytosis  (IAGP)
Low-grade fever  (IAGP)
Lymphadenopathy  (IAGP)
Megakaryocytopenia  (IAGP)
Melanocytic nevus  (IAGP)
Miscarriage  (IAGP)
Myelodysplasia  (IAGP)
Myelofibrosis  (IAGP)
Myeloproliferative disorder  (IAGP)
Myocardial infarction  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Paresthesia  (IAGP)
Peripheral arterial stenosis  (IAGP)
Petechiae  (IAGP)
Poikilocytosis  (IAGP)
Portal hypertension  (IAGP)
Portal vein thrombosis  (IAGP)
Prolonged bleeding time  (IAGP)
Pruritus  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary embolism  (IAGP)
Purpura  (IAGP)
Respiratory insufficiency  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Somatic mutation  (IAGP)
Splenomegaly  (IAGP)
Stroke  (IAGP)
Syncope  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Tinnitus  (IAGP)
Transient ischemic attack  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Visual field defect  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietic receptor c-Mpl. Alexander WS, etal., Blood. 1996 Mar 15;87(6):2162-70.
2. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Ding J, etal., Blood. 2004 Jun 1;103(11):4198-200. Epub 2004 Feb 5.
3. Molecular detection of c-mpl thrombopoietin receptor gene expression in chronic myeloproliferative disorders. Duensing S, etal., Mol Pathol. 1999 Jun;52(3):146-50.
4. Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. El-Harith el-HA, etal., Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19.
5. Isolation and phenotypic characterization of colorectal cancer stem cells with organ-specific metastatic potential. Gao W, etal., Gastroenterology. 2013 Sep;145(3):636-46.e5. doi: 10.1053/j.gastro.2013.05.049. Epub 2013 Jun 5.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Ihara K, etal., Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):3132-6.
8. Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim. Kuter DJ, etal., Blood. 2009 Oct 29;114(18):3748-56. doi: 10.1182/blood-2009-05-224766. Epub 2009 Aug 11.
9. Autoantibody to c-Mpl (thrombopoietin receptor) in systemic lupus erythematosus: relationship to thrombocytopenia with megakaryocytic hypoplasia. Kuwana M, etal., Arthritis Rheum. 2002 Aug;46(8):2148-59.
10. The platelet thrombopoietin receptor number and function are markedly decreased in patients with essential thrombocythaemia. Li J, etal., Br J Haematol. 2000 Dec;111(3):943-53.
11. Decreased prothrombotic effects of pegylated recombinant human megakaryocyte growth and development factor in thrombocytopenic state in a rat thrombosis model. Nishiyama U, etal., J Thromb Haemost. 2005 Feb;3(2):355-60.
12. Effects of thrombopoietin on growth of hepatocellular carcinoma: Is thrombopoietin therapy for liver disease safe or not? Nozaki R, etal., Hepatol Res. 2013 Jun;43(6):610-20. doi: 10.1111/hepr.12006. Epub 2012 Nov 16.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. Comparative Analysis for Glycopatterns and Complex-Type N-Glycans of Glycoprotein in Sera from Chronic Hepatitis B- and C-Infected Patients. Qin X, etal., Front Physiol. 2017 Aug 21;8:596. doi: 10.3389/fphys.2017.00596. eCollection 2017.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Repeated Lusutrombopag Treatment for Thrombocytopenia in Patients with Chronic Liver Disease. Sano Y, etal., Digestion. 2020 Aug 25:1-9. doi: 10.1159/000509852.
20. CD110 promotes pancreatic cancer progression and its expression is correlated with poor prognosis. Yan Z, etal., J Cancer Res Clin Oncol. 2019 May;145(5):1147-1164. doi: 10.1007/s00432-019-02860-z. Epub 2019 Feb 15.
Additional References at PubMed
PMID:1608974   PMID:2175677   PMID:2550356   PMID:7534285   PMID:8020956   PMID:8202154   PMID:8541543   PMID:8639837   PMID:9122198   PMID:9766811   PMID:10224114   PMID:10391209  
PMID:10517496   PMID:10918061   PMID:10971406   PMID:10979953   PMID:11054408   PMID:11071383   PMID:11133753   PMID:11784712   PMID:11961237   PMID:12010817   PMID:12091373   PMID:12145691  
PMID:12200367   PMID:14995067   PMID:15210714   PMID:15269348   PMID:15307100   PMID:15452260   PMID:15647951   PMID:15741216   PMID:15899890   PMID:15951300   PMID:16088917   PMID:16454716  
PMID:16470591   PMID:16834459   PMID:16868251   PMID:17052978   PMID:17107350   PMID:17157161   PMID:17379761   PMID:17408398   PMID:17408465   PMID:17507998   PMID:17540852   PMID:17644747  
PMID:17658515   PMID:17666371   PMID:17709604   PMID:17920754   PMID:17920755   PMID:17956691   PMID:18029348   PMID:18040685   PMID:18174381   PMID:18250227   PMID:18295514   PMID:18297515  
PMID:18422784   PMID:18451306   PMID:18464114   PMID:18487512   PMID:18519816   PMID:18528423   PMID:18566540   PMID:18669880   PMID:18687690   PMID:18754026   PMID:19029146   PMID:19097174  
PMID:19099657   PMID:19175989   PMID:19194467   PMID:19196872   PMID:19261614   PMID:19274616   PMID:19302922   PMID:19341705   PMID:19351817   PMID:19372714   PMID:19469654   PMID:19483125  
PMID:19521067   PMID:19560457   PMID:19608689   PMID:19643476   PMID:19713221   PMID:19728022   PMID:19996410   PMID:20111067   PMID:20113333   PMID:20113830   PMID:20151976   PMID:20166549  
PMID:20232601   PMID:20304805   PMID:20331763   PMID:20410924   PMID:20485371   PMID:20508616   PMID:20520633   PMID:20529857   PMID:20823136   PMID:20890078   PMID:21051030   PMID:21174945  
PMID:21225925   PMID:21228032   PMID:21326037   PMID:21402716   PMID:21489838   PMID:21555228   PMID:21570117   PMID:21605620   PMID:21674576   PMID:21691276   PMID:21841770   PMID:21858098  
PMID:21873635   PMID:21892137   PMID:22093990   PMID:22102270   PMID:22180433   PMID:22290824   PMID:22337712   PMID:22338178   PMID:22378845   PMID:22565617   PMID:22613795   PMID:22649097  
PMID:23351976   PMID:23359689   PMID:23441089   PMID:23511495   PMID:23575445   PMID:23824909   PMID:23908116   PMID:23986553   PMID:24043765   PMID:24085601   PMID:24402162   PMID:24931576  
PMID:24986690   PMID:25103330   PMID:25189720   PMID:25231745   PMID:25343958   PMID:25398833   PMID:25468569   PMID:25482134   PMID:25538044   PMID:25573593   PMID:25637689   PMID:25761530  
PMID:25911549   PMID:25970554   PMID:26071474   PMID:26119186   PMID:26159733   PMID:26314963   PMID:26316487   PMID:26419289   PMID:26437785   PMID:26450985   PMID:26505790   PMID:26614694  
PMID:26627830   PMID:26668133   PMID:26768689   PMID:26817954   PMID:26890983   PMID:26951227   PMID:27177927   PMID:27519934   PMID:27768091   PMID:27855276   PMID:27865175   PMID:27993871  
PMID:28034873   PMID:28391042   PMID:28625126   PMID:28714945   PMID:28741795   PMID:28766534   PMID:28990497   PMID:29146710   PMID:29266414   PMID:29274361   PMID:29288169   PMID:29313460  
PMID:29384262   PMID:29390868   PMID:29934356   PMID:29991678   PMID:30005133   PMID:30084272   PMID:30304655   PMID:30635630   PMID:30755420   PMID:31014934   PMID:31128484   PMID:31135094  
PMID:31462733   PMID:31548225   PMID:31554376   PMID:31668145   PMID:31697803   PMID:31858134   PMID:32341206   PMID:32499240   PMID:32591258   PMID:32703794   PMID:33202112   PMID:33255170  
PMID:33361847   PMID:33693786   PMID:33770389   PMID:33789164   PMID:33909030   PMID:33921387   PMID:33961781   PMID:34010413   PMID:34131895   PMID:34165774   PMID:34210000   PMID:34300032  
PMID:34756243   PMID:34845187   PMID:35544613   PMID:35633552   PMID:35791502   PMID:35999261  


Genomics

Comparative Map Data
MPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38143,337,818 - 43,354,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl143,337,818 - 43,354,466 (+)EnsemblGRCh38hg38GRCh38
GRCh37143,803,489 - 43,820,137 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,576,062 - 43,592,722 (+)NCBINCBI36Build 36hg18NCBI36
Build 34143,472,567 - 43,489,228NCBI
Celera142,085,625 - 42,102,280 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef141,923,380 - 41,939,975 (+)NCBIHuRef
CHM1_1143,919,946 - 43,936,585 (+)NCBICHM1_1
T2T-CHM13v2.0143,208,365 - 43,225,013 (+)NCBIT2T-CHM13v2.0
Mpl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394118,299,609 - 118,314,771 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4118,299,612 - 118,314,710 (-)EnsemblGRCm39 Ensembl
GRCm384118,442,412 - 118,457,688 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4118,442,415 - 118,457,513 (-)EnsemblGRCm38mm10GRCm38
MGSCv374118,115,022 - 118,130,100 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364117,940,347 - 117,955,403 (-)NCBIMGSCv36mm8
Celera4117,167,633 - 117,182,859 (-)NCBICelera
Cytogenetic Map4D2.1NCBI
cM Map454.61NCBI
Mpl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25131,973,897 - 131,987,472 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5131,973,895 - 131,986,797 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.05137,268,412 - 137,282,032 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5137,269,480 - 137,281,298 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05141,057,876 - 141,070,834 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45138,921,281 - 138,931,990 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15138,922,155 - 138,937,216 (-)NCBI
Celera5130,519,369 - 130,532,972 (-)NCBICelera
Cytogenetic Map5q36NCBI
Mpl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555372,922,156 - 2,937,223 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555372,922,156 - 2,937,223 (+)NCBIChiLan1.0ChiLan1.0
MPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1144,018,395 - 44,034,492 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl144,018,395 - 44,034,492 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0142,639,191 - 42,654,738 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11516,815,102 - 16,825,321 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1516,815,294 - 16,825,350 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1516,937,406 - 16,953,302 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01516,977,122 - 16,993,028 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1516,978,816 - 16,993,003 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11516,769,591 - 16,785,487 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01516,838,589 - 16,854,485 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01516,912,170 - 16,928,047 (-)NCBIUU_Cfam_GSD_1.0
Mpl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505858,919,891 - 58,932,407 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647424,744,673 - 24,757,085 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493647424,744,673 - 24,757,189 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6167,896,287 - 167,908,625 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16167,896,191 - 167,908,988 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26155,334,350 - 155,335,846 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MPL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12089,457,549 - 89,474,756 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2089,459,493 - 89,474,352 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603327,447,284 - 27,462,737 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mpl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248922,656,260 - 2,669,946 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248922,656,260 - 2,671,455 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MPL
368 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005373.3(MPL):c.530dup (p.Asn178fs) duplication not specified [RCV000121541] Chr1:43339407..43339408 [GRCh38]
Chr1:43805078..43805079 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) duplication not specified [RCV000121546] Chr1:43340015..43340016 [GRCh38]
Chr1:43805686..43805687 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.1120_1121delinsGG (p.Thr374Gly) indel not specified [RCV000121551] Chr1:43346584..43346585 [GRCh38]
Chr1:43812255..43812256 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.556C>T (p.Gln186Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015217] Chr1:43339435 [GRCh38]
Chr1:43805106 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1499del (p.Leu500fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV000015218] Chr1:43349293 [GRCh38]
Chr1:43814964 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015219]|Congenital amegakaryocytic thrombocytopenia [RCV001038272]|not provided [RCV001818159] Chr1:43340042 [GRCh38]
Chr1:43805713 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015220]|Congenital amegakaryocytic thrombocytopenia [RCV001378786]|not provided [RCV001781269] Chr1:43352768 [GRCh38]
Chr1:43818439 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015221]|Congenital amegakaryocytic thrombocytopenia [RCV000792211]|Congenital amegakaryocytic thrombocytopenia [RCV002490372]|Thrombocytopenia [RCV000852103]|not provided [RCV001091414]|not specified [RCV000121539] Chr1:43338634 [GRCh38]
Chr1:43804305 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005373.3(MPL):c.1473G>A (p.Trp491Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015222] Chr1:43349267 [GRCh38]
Chr1:43814938 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1566-1G>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015223] Chr1:43352215 [GRCh38]
Chr1:43817886 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000015224] Chr1:43340096 [GRCh38]
Chr1:43805767 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000400040]|Congenital amegakaryocytic thrombocytopenia [RCV000542206]|Thrombocythemia 1 [RCV000359577]|Thrombocythemia 2 [RCV000015225]|not provided [RCV001668127]|not specified [RCV000121535] Chr1:43338136 [GRCh38]
Chr1:43803807 [GRCh37]
Chr1:1p34.2
risk factor|benign|likely benign|not provided
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) single nucleotide variant Myelofibrosis [RCV000425381]|Myeloproliferative neoplasm [RCV000418818]|Thrombocythemia 1 [RCV000436519]|Thrombocythemia 2 [RCV000015226]|not provided [RCV001543455] Chr1:43349308 [GRCh38]
Chr1:43814979 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000501989]|Congenital amegakaryocytic thrombocytopenia [RCV001361128]|Hematologic neoplasm [RCV000422740]|Primary myelofibrosis [RCV000015227]|Thrombocythemia 2, somatic [RCV000022668] Chr1:43349338 [GRCh38]
Chr1:43815009 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|uncertain significance|other
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) indel Primary myelofibrosis [RCV000015228] Chr1:43349337..43349338 [GRCh38]
Chr1:43815008..43815009 [GRCh37]
Chr1:1p34.2
pathogenic|other
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) single nucleotide variant MPL-Related Disorders [RCV000778242] Chr1:43352638 [GRCh38]
Chr1:43818309 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1645C>G (p.Leu549Val) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001829496]|not provided [RCV000518989] Chr1:43352295 [GRCh38]
Chr1:43817966 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV000548166] Chr1:43352608..43352609 [GRCh38]
Chr1:43818279..43818280 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1803C>T (p.Thr601=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002231272] Chr1:43352667 [GRCh38]
Chr1:43818338 [GRCh37]
Chr1:1p34.2
likely benign
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 copy number loss See cases [RCV000050706] Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1
pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33
pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1
pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 copy number loss See cases [RCV000053837] Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1
pathogenic
NM_005373.2(MPL):c.295G>A (p.Glu99Lys) single nucleotide variant Malignant melanoma [RCV000064782] Chr1:43338624 [GRCh38]
Chr1:43804295 [GRCh37]
Chr1:43576882 [NCBI36]
Chr1:1p34.2
not provided
NM_005373.2(MPL):c.445G>A (p.Glu149Lys) single nucleotide variant Malignant melanoma [RCV000064783] Chr1:43339324 [GRCh38]
Chr1:43804995 [GRCh37]
Chr1:43577582 [NCBI36]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001854660]|not specified [RCV000121532] Chr1:43352271 [GRCh38]
Chr1:43817942 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) single nucleotide variant not specified [RCV000121533] Chr1:43352609 [GRCh38]
Chr1:43818280 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000666995]|not specified [RCV000121534] Chr1:43338228 [GRCh38]
Chr1:43803899 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance|not provided
NM_005373.3(MPL):c.235_236del (p.Leu79fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV000503692]|Congenital amegakaryocytic thrombocytopenia [RCV000818190]|Congenital amegakaryocytic thrombocytopenia [RCV002498569]|not provided [RCV002281948]|not specified [RCV000121536] Chr1:43338564..43338565 [GRCh38]
Chr1:43804235..43804236 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005373.2(MPL):c.376delT (p.Phe126Leufs) deletion AllHighlyPenetrant [RCV000121537]|not specified [RCV000121537] Chr1:43338705 [GRCh38]
Chr1:43804376 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.263G>A (p.Gly88Glu) single nucleotide variant Thrombocytopenia [RCV000852097]|not specified [RCV000121538] Chr1:43338592 [GRCh38]
Chr1:43804263 [GRCh37]
Chr1:1p34.2
likely pathogenic|not provided
NM_005373.3(MPL):c.340G>A (p.Val114Met) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000371334]|Congenital amegakaryocytic thrombocytopenia [RCV000467700]|not provided [RCV001594849]|not specified [RCV000121540] Chr1:43338669 [GRCh38]
Chr1:43804340 [GRCh37]
Chr1:1p34.2
benign|likely benign|not provided
NM_005373.3(MPL):c.690A>G (p.Glu230=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000292036]|Congenital amegakaryocytic thrombocytopenia [RCV000472894]|Thrombocythemia 1 [RCV000386380]|not provided [RCV001689668]|not specified [RCV000121542] Chr1:43339569 [GRCh38]
Chr1:43805240 [GRCh37]
Chr1:1p34.2
benign|not provided
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001048802]|Congenital amegakaryocytic thrombocytopenia [RCV001831914]|Congenital amegakaryocytic thrombocytopenia [RCV002483221]|not specified [RCV000121543] Chr1:43339501 [GRCh38]
Chr1:43805172 [GRCh37]
Chr1:1p34.2
uncertain significance|not provided
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000665815]|Congenital amegakaryocytic thrombocytopenia [RCV000796648]|not specified [RCV000121544] Chr1:43339534 [GRCh38]
Chr1:43805205 [GRCh37]
Chr1:1p34.2
uncertain significance|not provided
NM_005373.3(MPL):c.619G>A (p.Asp207Asn) single nucleotide variant not specified [RCV000121545] Chr1:43339498 [GRCh38]
Chr1:43805169 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000665912]|Congenital amegakaryocytic thrombocytopenia [RCV000863056]|not specified [RCV000121547] Chr1:43340066 [GRCh38]
Chr1:43805737 [GRCh37]
Chr1:1p34.2
benign|likely benign|not provided
NM_005373.3(MPL):c.733G>A (p.Gly245Arg) single nucleotide variant not specified [RCV000121548] Chr1:43340006 [GRCh38]
Chr1:43805677 [GRCh37]
Chr1:1p34.2
not provided
NM_005373.3(MPL):c.754T>C (p.Tyr252His) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000778239]|Congenital amegakaryocytic thrombocytopenia [RCV000860830]|not specified [RCV000121549] Chr1:43340027 [GRCh38]
Chr1:43805698 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance|not provided
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000284667]|Congenital amegakaryocytic thrombocytopenia [RCV000862461]|Thrombocythemia 1 [RCV000394143]|not provided [RCV001689669]|not specified [RCV000121550] Chr1:43340495 [GRCh38]
Chr1:43806166 [GRCh37]
Chr1:1p34.2
benign|likely benign|not provided
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) single nucleotide variant Abnormal bleeding [RCV001270539]|Congenital amegakaryocytic thrombocytopenia [RCV000670806]|Congenital amegakaryocytic thrombocytopenia [RCV000867193]|not specified [RCV000121552] Chr1:43346527 [GRCh38]
Chr1:43812198 [GRCh37]
Chr1:1p34.2
benign|uncertain significance|not provided
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000273701]|Congenital amegakaryocytic thrombocytopenia [RCV000472784]|Congenital amegakaryocytic thrombocytopenia [RCV002492432]|Thrombocythemia 1 [RCV000369869]|not specified [RCV000121553] Chr1:43346584 [GRCh38]
Chr1:43812255 [GRCh37]
Chr1:1p34.2
benign|likely benign|not provided
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000315154]|Congenital amegakaryocytic thrombocytopenia [RCV001246816]|Thrombocythemia 1 [RCV000400513]|not provided [RCV001358413]|not specified [RCV000121554] Chr1:43346566 [GRCh38]
Chr1:43812237 [GRCh37]
Chr1:1p34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005373.3(MPL):c.1565+5C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000232182]|Congenital amegakaryocytic thrombocytopenia [RCV000337044]|Thrombocythemia 1 [RCV000282111]|not provided [RCV001689671]|not specified [RCV000122424] Chr1:43349364 [GRCh38]
Chr1:43815035 [GRCh37]
Chr1:1p34.2
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_005373.3(MPL):c.79+2T>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000586535]|Congenital amegakaryocytic thrombocytopenia [RCV000763338]|Congenital amegakaryocytic thrombocytopenia [RCV000801559]|MPL-Related Disorders [RCV000778237]|Myelofibrosis [RCV001330057]|Thrombocytopenia [RCV000851882]|not provided [RCV000254762]|not specified [RCV000122423] Chr1:43337929 [GRCh38]
Chr1:43803600 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_005373.3(MPL):c.210G>A (p.Pro70=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000316682]|Congenital amegakaryocytic thrombocytopenia [RCV000861847]|Thrombocythemia 1 [RCV000261429]|not provided [RCV001527720]|not specified [RCV000192562] Chr1:43338229 [GRCh38]
Chr1:43803900 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.*748C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000332724]|Thrombocythemia 1 [RCV000261034] Chr1:43353520 [GRCh38]
Chr1:43819191 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*94C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000375748]|Thrombocythemia 1 [RCV000262562] Chr1:43352866 [GRCh38]
Chr1:43818537 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1654-10T>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000309183]|Congenital amegakaryocytic thrombocytopenia [RCV000464665]|Thrombocythemia 1 [RCV000390481]|not provided [RCV001356726]|not specified [RCV001820856] Chr1:43352508 [GRCh38]
Chr1:43818179 [GRCh37]
Chr1:1p34.2
benign|likely benign|uncertain significance
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000352022]|Congenital amegakaryocytic thrombocytopenia [RCV001245598]|Thrombocythemia 1 [RCV000397980] Chr1:43352259 [GRCh38]
Chr1:43817930 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000336285]|Thrombocythemia 1 [RCV000299808]|not provided [RCV001553155] Chr1:43346515 [GRCh38]
Chr1:43812186 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.854-3T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000343418]|Thrombocythemia 1 [RCV000288318] Chr1:43340384 [GRCh38]
Chr1:43806055 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000363866]|Congenital amegakaryocytic thrombocytopenia [RCV001850560]|Thrombocythemia 1 [RCV000269486] Chr1:43352530 [GRCh38]
Chr1:43818201 [GRCh37]
Chr1:1p34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000266369]|Thrombocythemia 1 [RCV000379998] Chr1:43348871 [GRCh38]
Chr1:43814542 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1570C>T (p.Leu524=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000278380]|Congenital amegakaryocytic thrombocytopenia [RCV000862247]|Thrombocythemia 1 [RCV000373037]|not specified [RCV001820855] Chr1:43352220 [GRCh38]
Chr1:43817891 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*1506G>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000282453]|Thrombocythemia 1 [RCV000374545] Chr1:43354278 [GRCh38]
Chr1:43819949 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1467C>T (p.Thr489=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000321411]|Congenital amegakaryocytic thrombocytopenia [RCV000863244]|Thrombocythemia 1 [RCV000376584] Chr1:43349001 [GRCh38]
Chr1:43814672 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000814672]|Congenital amegakaryocytic thrombocytopenia [RCV002250607]|Congenital amegakaryocytic thrombocytopenia [RCV002479991]|Thrombocythemia 2 [RCV001731468]|not provided [RCV000255329] Chr1:43338646 [GRCh38]
Chr1:43804317 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_005373.3(MPL):c.92T>C (p.Leu31Pro) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000228735] Chr1:43338111 [GRCh38]
Chr1:43803782 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000225957]|Congenital amegakaryocytic thrombocytopenia [RCV001828117] Chr1:43340117 [GRCh38]
Chr1:43805788 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.543T>C (p.Gly181=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000275711]|Congenital amegakaryocytic thrombocytopenia [RCV000552215]|Thrombocythemia 1 [RCV000331889] Chr1:43339422 [GRCh38]
Chr1:43805093 [GRCh37]
Chr1:1p34.2
benign|likely benign
GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 copy number loss See cases [RCV000446029] Chr1:42914303..45001279 [GRCh37]
Chr1:1p34.2-34.1
pathogenic
NM_005373.3(MPL):c.690+11C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000382787]|Congenital amegakaryocytic thrombocytopenia [RCV002059484]|Thrombocythemia 1 [RCV000328339] Chr1:43339580 [GRCh38]
Chr1:43805251 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000394158]|Thrombocythemia 1 [RCV000339711] Chr1:43346467 [GRCh38]
Chr1:43812138 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*86C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000321159]|Thrombocythemia 1 [RCV000265980] Chr1:43352858 [GRCh38]
Chr1:43818529 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*1506G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000322236]|Thrombocythemia 1 [RCV000283440] Chr1:43354278 [GRCh38]
Chr1:43819949 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*871G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000371102]|Thrombocythemia 1 [RCV000274202] Chr1:43353643 [GRCh38]
Chr1:43819314 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*1112G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000337133]|Thrombocythemia 1 [RCV000283963] Chr1:43353884 [GRCh38]
Chr1:43819555 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.378del (p.Phe126fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV000780430]|Congenital amegakaryocytic thrombocytopenia [RCV001047546]|not provided [RCV000255711]|not specified [RCV000121537] Chr1:43338705 [GRCh38]
Chr1:43804376 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005373.3(MPL):c.1653+3G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000312504]|Congenital amegakaryocytic thrombocytopenia [RCV000460889]|Thrombocythemia 1 [RCV000348994]|not specified [RCV000242285] Chr1:43352306 [GRCh38]
Chr1:43817977 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.391+47C>T single nucleotide variant not provided [RCV001610663]|not specified [RCV000247544] Chr1:43338767 [GRCh38]
Chr1:43804438 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.981-41G>A single nucleotide variant not provided [RCV001527726]|not specified [RCV000247692] Chr1:43346404 [GRCh38]
Chr1:43812075 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.1468+37G>A single nucleotide variant not specified [RCV000245355] Chr1:43349039 [GRCh38]
Chr1:43814710 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1794C>T (p.Cys598=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000360549]|Congenital amegakaryocytic thrombocytopenia [RCV000633170]|Thrombocythemia 1 [RCV000305922]|not specified [RCV000245469] Chr1:43352658 [GRCh38]
Chr1:43818329 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.1309-10C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000633173]|Congenital amegakaryocytic thrombocytopenia [RCV001100334]|not specified [RCV000253156] Chr1:43348833 [GRCh38]
Chr1:43814504 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.*1674A>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000294666]|Thrombocythemia 1 [RCV000351856] Chr1:43354446 [GRCh38]
Chr1:43820117 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.*1126A>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000354586]|Thrombocythemia 1 [RCV000398356] Chr1:43353898 [GRCh38]
Chr1:43819569 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*709C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000353508]|Thrombocythemia 1 [RCV000301049] Chr1:43353481 [GRCh38]
Chr1:43819152 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*1603A>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000373548]|Thrombocythemia 1 [RCV000335183] Chr1:43354375 [GRCh38]
Chr1:43820046 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.*662C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000342173]|Thrombocythemia 1 [RCV000289721] Chr1:43353434 [GRCh38]
Chr1:43819105 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*573G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000385291]|Thrombocythemia 1 [RCV000290865] Chr1:43353345 [GRCh38]
Chr1:43819016 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*1486T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000380310]|Thrombocythemia 1 [RCV000323198] Chr1:43354258 [GRCh38]
Chr1:43819929 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*1054G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000396261]|Thrombocythemia 1 [RCV000342495] Chr1:43353826 [GRCh38]
Chr1:43819497 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.*400C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000351766]|Thrombocythemia 1 [RCV000294560] Chr1:43353172 [GRCh38]
Chr1:43818843 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.*1180G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000314769]|Thrombocythemia 1 [RCV000367147] Chr1:43353952 [GRCh38]
Chr1:43819623 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_005373.3(MPL):c.*1116G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000396264]|Thrombocythemia 1 [RCV000297412] Chr1:43353888 [GRCh38]
Chr1:43819559 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*882C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000383305]|Thrombocythemia 1 [RCV000331579] Chr1:43353654 [GRCh38]
Chr1:43819325 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*364C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000317757]|Thrombocythemia 1 [RCV000372435] Chr1:43353136 [GRCh38]
Chr1:43818807 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000325351]|Thrombocythemia 1 [RCV000270262] Chr1:43348865 [GRCh38]
Chr1:43814536 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*1351T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000270436]|Thrombocythemia 1 [RCV000362782] Chr1:43354123 [GRCh38]
Chr1:43819794 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*701_*705dup duplication Congenital amegakaryocytic thrombocytopenia [RCV000302525]|Thrombocythemia 1 [RCV000396186] Chr1:43353447..43353448 [GRCh38]
Chr1:43819118..43819119 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*1216A>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000329090]|Thrombocythemia 1 [RCV000274953] Chr1:43353988 [GRCh38]
Chr1:43819659 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1437C>T (p.Asp479=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001277586] Chr1:43348971 [GRCh38]
Chr1:43814642 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*924C>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000291290]|Thrombocythemia 1 [RCV000325269] Chr1:43353696 [GRCh38]
Chr1:43819367 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.95C>T (p.Ala32Val) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000304665]|Thrombocythemia 1 [RCV000390374] Chr1:43338114 [GRCh38]
Chr1:43803785 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*657C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000348222]|Thrombocythemia 1 [RCV000396172] Chr1:43353429 [GRCh38]
Chr1:43819100 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*971G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000285203]|Thrombocythemia 1 [RCV000382235] Chr1:43353743 [GRCh38]
Chr1:43819414 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1238C>T (p.Pro413Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000310048]|Thrombocythemia 1 [RCV000364821] Chr1:43346864 [GRCh38]
Chr1:43812535 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.196C>T (p.Leu66=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000356128]|Congenital amegakaryocytic thrombocytopenia [RCV002059483]|Thrombocythemia 1 [RCV000301346] Chr1:43338215 [GRCh38]
Chr1:43803886 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.*705del deletion Congenital amegakaryocytic thrombocytopenia [RCV000359618]|Thrombocythemia 1 [RCV000400013] Chr1:43353448 [GRCh38]
Chr1:43819119 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1781T>G (p.Leu594Trp) single nucleotide variant not provided [RCV000584875] Chr1:43352645 [GRCh38]
Chr1:43818316 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000411190]|Congenital amegakaryocytic thrombocytopenia [RCV001248333]|MPL-Related Disorders [RCV000778238]|not provided [RCV001782878] Chr1:43338146 [GRCh38]
Chr1:43803817 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1468+2T>C single nucleotide variant not provided [RCV000412964] Chr1:43349004 [GRCh38]
Chr1:43814675 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000542019]|Congenital amegakaryocytic thrombocytopenia [RCV001834759]|Congenital amegakaryocytic thrombocytopenia [RCV002490971] Chr1:43338231 [GRCh38]
Chr1:43803902 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.391+5G>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001042667]|not provided [RCV000414099]|not specified [RCV000825643] Chr1:43338725 [GRCh38]
Chr1:43804396 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|uncertain significance
NM_005373.3(MPL):c.1513A>T (p.Ser505Cys) single nucleotide variant Myeloproliferative neoplasm [RCV000418644] Chr1:43349307 [GRCh38]
Chr1:43814978 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.173C>T (p.Ala58Val) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000456739]|Congenital amegakaryocytic thrombocytopenia [RCV001272210]|Congenital amegakaryocytic thrombocytopenia [RCV002481475] Chr1:43338192 [GRCh38]
Chr1:43803863 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000501453] Chr1:43346929 [GRCh38]
Chr1:43812600 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001326177]|Congenital amegakaryocytic thrombocytopenia [RCV001829428]|not specified [RCV000499546] Chr1:43348870 [GRCh38]
Chr1:43814541 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1513A>C (p.Ser505Arg) single nucleotide variant not specified [RCV000499653] Chr1:43349307 [GRCh38]
Chr1:43814978 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005373.3(MPL):c.549G>A (p.Thr183=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000860898]|Congenital amegakaryocytic thrombocytopenia [RCV001834613]|not provided [RCV001357593]|not specified [RCV000502821] Chr1:43339428 [GRCh38]
Chr1:43805099 [GRCh37]
Chr1:1p34.2
benign|likely benign|uncertain significance
NM_005373.3(MPL):c.972del (p.Arg325fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV000502932] Chr1:43340502 [GRCh38]
Chr1:43806173 [GRCh37]
Chr1:1p34.2
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005373.3(MPL):c.413del (p.Ile138fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001004148]|Congenital amegakaryocytic thrombocytopenia [RCV002234427] Chr1:43339292 [GRCh38]
Chr1:43804963 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.771C>A (p.Arg257=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002233952] Chr1:43340044 [GRCh38]
Chr1:43805715 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000633171]|Congenital amegakaryocytic thrombocytopenia [RCV001272213]|not specified [RCV001821791] Chr1:43339556 [GRCh38]
Chr1:43805227 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000698527] Chr1:43348994 [GRCh38]
Chr1:43814665 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000698792]|Congenital amegakaryocytic thrombocytopenia [RCV001825373]|Congenital amegakaryocytic thrombocytopenia [RCV002485709] Chr1:43346804 [GRCh38]
Chr1:43812475 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002233559] Chr1:43349267 [GRCh38]
Chr1:43814938 [GRCh37]
Chr1:1p34.2
uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000706170]|Congenital amegakaryocytic thrombocytopenia [RCV002485769] Chr1:43352669 [GRCh38]
Chr1:43818340 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001003894] Chr1:43338598 [GRCh38]
Chr1:43804269 [GRCh37]
Chr1:1p34.2
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005373.3(MPL):c.392-274G>T single nucleotide variant not provided [RCV001644326] Chr1:43338997 [GRCh38]
Chr1:43804668 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000936343]|Congenital amegakaryocytic thrombocytopenia [RCV001832134] Chr1:43346598 [GRCh38]
Chr1:43812269 [GRCh37]
Chr1:1p34.2
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_005373.3(MPL):c.1670C>A (p.Ser557Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001638192] Chr1:43352534 [GRCh38]
Chr1:43818205 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1166-4G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001445304]|not provided [RCV000903363] Chr1:43346788 [GRCh38]
Chr1:43812459 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1119T>C (p.Gly373=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000867777]|Congenital amegakaryocytic thrombocytopenia [RCV001275187] Chr1:43346583 [GRCh38]
Chr1:43812254 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.318G>A (p.Pro106=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000867833]|Congenital amegakaryocytic thrombocytopenia [RCV001275184] Chr1:43338647 [GRCh38]
Chr1:43804318 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1053C>T (p.Arg351=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000871081] Chr1:43346517 [GRCh38]
Chr1:43812188 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1650C>T (p.Ser550=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000865922]|Congenital amegakaryocytic thrombocytopenia [RCV001277239] Chr1:43352300 [GRCh38]
Chr1:43817971 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001061249] Chr1:43346873 [GRCh38]
Chr1:43812544 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1165+1G>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001035124] Chr1:43346630 [GRCh38]
Chr1:43812301 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1653+1del deletion Congenital amegakaryocytic thrombocytopenia [RCV000780429]|Congenital amegakaryocytic thrombocytopenia [RCV001248608]|Congenital amegakaryocytic thrombocytopenia [RCV002487607]|Myelofibrosis [RCV002249480] Chr1:43352303 [GRCh38]
Chr1:43817974 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|uncertain significance
NM_005373.3(MPL):c.1309-2A>C single nucleotide variant MPL-Related Disorders [RCV000778240] Chr1:43348841 [GRCh38]
Chr1:43814512 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001055113]|MPL-Related Disorders [RCV000778241]|not provided [RCV001816834] Chr1:43348956 [GRCh38]
Chr1:43814627 [GRCh37]
Chr1:1p34.2
pathogenic|uncertain significance
NM_005373.3(MPL):c.768G>A (p.Leu256=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001470700]|not provided [RCV000976493] Chr1:43340041 [GRCh38]
Chr1:43805712 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.273C>T (p.Tyr91=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000868773]|Congenital amegakaryocytic thrombocytopenia [RCV001272211] Chr1:43338602 [GRCh38]
Chr1:43804273 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1002C>T (p.Cys334=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000863760]|Congenital amegakaryocytic thrombocytopenia [RCV001275186] Chr1:43346466 [GRCh38]
Chr1:43812137 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.963G>T (p.Arg321=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000863425]|Congenital amegakaryocytic thrombocytopenia [RCV001275185] Chr1:43340496 [GRCh38]
Chr1:43806167 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.174G>A (p.Ala58=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001392127]|not provided [RCV000865181] Chr1:43338193 [GRCh38]
Chr1:43803864 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.231C>T (p.Cys77=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000902553] Chr1:43338560 [GRCh38]
Chr1:43804231 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1704T>C (p.Leu568=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000871639] Chr1:43352568 [GRCh38]
Chr1:43818239 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.981-1G>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000824356]|Congenital amegakaryocytic thrombocytopenia [RCV001825676]|Congenital amegakaryocytic thrombocytopenia [RCV002478934] Chr1:43346444 [GRCh38]
Chr1:43812115 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000818204]|Congenital amegakaryocytic thrombocytopenia [RCV001420932] Chr1:43346533 [GRCh38]
Chr1:43812204 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000813136] Chr1:43348996 [GRCh38]
Chr1:43814667 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000809390] Chr1:43338640 [GRCh38]
Chr1:43804311 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000818119] Chr1:43346820 [GRCh38]
Chr1:43812491 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.611C>T (p.Ser204Phe) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001096806] Chr1:43339490 [GRCh38]
Chr1:43805161 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1 copy number loss not provided [RCV000850001] Chr1:43336799..44713202 [GRCh37]
Chr1:1p34.2-34.1
pathogenic
NM_005373.3(MPL):c.641C>T (p.Pro214Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001096807] Chr1:43339520 [GRCh38]
Chr1:43805191 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV000798314]|Congenital amegakaryocytic thrombocytopenia [RCV001272212] Chr1:43338633 [GRCh38]
Chr1:43804304 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NC_000001.11:g.(?_43349253)_(43349369_?)del deletion Congenital amegakaryocytic thrombocytopenia [RCV000823250] Chr1:43349253..43349369 [GRCh38]
Chr1:43814924..43815040 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.*204C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001098660] Chr1:43352976 [GRCh38]
Chr1:43818647 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3 copy number gain not provided [RCV000847475] Chr1:43787578..44221212 [GRCh37]
Chr1:1p34.2-34.1
uncertain significance
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001220159] Chr1:43346896 [GRCh38]
Chr1:43812567 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.455del (p.Ile152fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001214253] Chr1:43339334 [GRCh38]
Chr1:43805005 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.*725T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001100467] Chr1:43353497 [GRCh38]
Chr1:43819168 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*1021T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001097012] Chr1:43353793 [GRCh38]
Chr1:43819464 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.237G>C (p.Leu79=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001275183]|Congenital amegakaryocytic thrombocytopenia [RCV001434041]|not provided [RCV000952441] Chr1:43338566 [GRCh38]
Chr1:43804237 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.561G>A (p.Leu187=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001467996]|not provided [RCV000892664] Chr1:43339440 [GRCh38]
Chr1:43805111 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.774C>T (p.Ser258=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001471013]|not provided [RCV000951943] Chr1:43340047 [GRCh38]
Chr1:43805718 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1455C>A (p.Thr485=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001441717]|not provided [RCV000909562] Chr1:43348989 [GRCh38]
Chr1:43814660 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001219121] Chr1:43348882 [GRCh38]
Chr1:43814553 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001216702]|Congenital amegakaryocytic thrombocytopenia [RCV001836160] Chr1:43340465 [GRCh38]
Chr1:43806136 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.678C>A (p.Ser226=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001578624] Chr1:43339557 [GRCh38]
Chr1:43805228 [GRCh37]
Chr1:1p34.2
uncertain significance
Single allele single nucleotide variant not provided [RCV001716028] Chr1:43337551 [GRCh38]
Chr1:43803222 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.691-178C>T single nucleotide variant not provided [RCV001619736] Chr1:43339786 [GRCh38]
Chr1:43805457 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.1309-61T>C single nucleotide variant not provided [RCV001598355] Chr1:43348782 [GRCh38]
Chr1:43814453 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.1309-28C>G single nucleotide variant not provided [RCV001618830] Chr1:43348815 [GRCh38]
Chr1:43814486 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.1527C>A (p.Gly509=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001102306] Chr1:43349321 [GRCh38]
Chr1:43814992 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*183G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001096903] Chr1:43352955 [GRCh38]
Chr1:43818626 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001100335] Chr1:43348966 [GRCh38]
Chr1:43814637 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*601C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001100465] Chr1:43353373 [GRCh38]
Chr1:43819044 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.*255C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001098661] Chr1:43353027 [GRCh38]
Chr1:43818698 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.49C>T (p.Pro17Ser) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001102211] Chr1:43337897 [GRCh38]
Chr1:43803568 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001174802]|not provided [RCV001819878] Chr1:43338208 [GRCh38]
Chr1:43803879 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
Single allele single nucleotide variant not provided [RCV001710487] Chr1:43354522 [GRCh38]
Chr1:43820193 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001003895] Chr1:43338720 [GRCh38]
Chr1:43804391 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.185C>T (p.Thr62Ile) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001578625]|not provided [RCV001751802]|not specified [RCV001844301] Chr1:43338204 [GRCh38]
Chr1:43803875 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1192del (p.Trp398fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001095712] Chr1:43346818 [GRCh38]
Chr1:43812489 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) duplication Congenital amegakaryocytic thrombocytopenia [RCV001034960] Chr1:43349267..43349268 [GRCh38]
Chr1:43814938..43814939 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001229853]|Congenital amegakaryocytic thrombocytopenia [RCV001251410] Chr1:43338597 [GRCh38]
Chr1:43804268 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.442G>C (p.Gly148Arg) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001096805] Chr1:43339321 [GRCh38]
Chr1:43804992 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001056572] Chr1:43352528 [GRCh38]
Chr1:43818199 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*1220C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001097013] Chr1:43353992 [GRCh38]
Chr1:43819663 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.*914C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001102417] Chr1:43353686 [GRCh38]
Chr1:43819357 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*326A>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001098662] Chr1:43353098 [GRCh38]
Chr1:43818769 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.464A>T (p.Glu155Val) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001207907]|Congenital amegakaryocytic thrombocytopenia [RCV001833827] Chr1:43339343 [GRCh38]
Chr1:43805014 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.-13A>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001100231] Chr1:43337836 [GRCh38]
Chr1:43803507 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001048211]|Congenital amegakaryocytic thrombocytopenia [RCV001272214] Chr1:43346452 [GRCh38]
Chr1:43812123 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*901G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001102416] Chr1:43353673 [GRCh38]
Chr1:43819344 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*970C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001102418] Chr1:43353742 [GRCh38]
Chr1:43819413 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*170G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001096902] Chr1:43352942 [GRCh38]
Chr1:43818613 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.793del (p.Leu265fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001041386] Chr1:43340064 [GRCh38]
Chr1:43805735 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.*578C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001098663] Chr1:43353350 [GRCh38]
Chr1:43819021 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.*612G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001100466] Chr1:43353384 [GRCh38]
Chr1:43819055 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001264138] Chr1:43340080 [GRCh38]
Chr1:43805751 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.815G>A (p.Trp272Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001264139] Chr1:43340088 [GRCh38]
Chr1:43805759 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.98C>A (p.Ser33Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263971] Chr1:43338117 [GRCh38]
Chr1:43803788 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263972]|Congenital amegakaryocytic thrombocytopenia [RCV001383285] Chr1:43338543 [GRCh38]
Chr1:43804214 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.461G>A (p.Trp154Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263975] Chr1:43339340 [GRCh38]
Chr1:43805011 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263976] Chr1:43339968 [GRCh38]
Chr1:43805639 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263977] Chr1:43340029 [GRCh38]
Chr1:43805700 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.758G>A (p.Trp253Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001264136] Chr1:43340031 [GRCh38]
Chr1:43805702 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.763C>T (p.Gln255Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001264137] Chr1:43340036 [GRCh38]
Chr1:43805707 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001264140] Chr1:43346467 [GRCh38]
Chr1:43812138 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.244C>T (p.Gln82Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263973] Chr1:43338573 [GRCh38]
Chr1:43804244 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.280C>T (p.Gln94Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001263974] Chr1:43338609 [GRCh38]
Chr1:43804280 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.145A>G (p.Thr49Ala) single nucleotide variant not provided [RCV001310848] Chr1:43338164 [GRCh38]
Chr1:43803835 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.305G>A (p.Arg102His) single nucleotide variant Abnormal bleeding [RCV001270587]|Congenital amegakaryocytic thrombocytopenia [RCV001880205] Chr1:43338634 [GRCh38]
Chr1:43804305 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_005373.3(MPL):c.1197G>A (p.Arg399=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001277585]|Congenital amegakaryocytic thrombocytopenia [RCV001418738]|not specified [RCV001819973] Chr1:43346823 [GRCh38]
Chr1:43812494 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) single nucleotide variant Thrombocythemia 2 [RCV001267773] Chr1:43352260 [GRCh38]
Chr1:43817931 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002002121] Chr1:43346874 [GRCh38]
Chr1:43812545 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.475C>G (p.Pro159Ala) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001330056] Chr1:43339354 [GRCh38]
Chr1:43805025 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1169G>A (p.Arg390His) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002499660]|Thrombocythemia 2 [RCV001335263] Chr1:43346795 [GRCh38]
Chr1:43812466 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1401C>T (p.Gly467=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001391894] Chr1:43348935 [GRCh38]
Chr1:43814606 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1488C>T (p.Thr496=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001391694]|Congenital amegakaryocytic thrombocytopenia [RCV001836393] Chr1:43349282 [GRCh38]
Chr1:43814953 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.408C>G (p.Pro136=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001412986]|Congenital amegakaryocytic thrombocytopenia [RCV001826216] Chr1:43339287 [GRCh38]
Chr1:43804958 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.936A>G (p.Gln312=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001421052] Chr1:43340469 [GRCh38]
Chr1:43806140 [GRCh37]
Chr1:1p34.2
likely benign
NC_000001.10:g.(?_43392692)_(43870241_?)del deletion not provided [RCV001382501] Chr1:43392692..43870241 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1566-7C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001433551] Chr1:43352209 [GRCh38]
Chr1:43817880 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1584G>A (p.Leu528=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001422777] Chr1:43352234 [GRCh38]
Chr1:43817905 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1165+10T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001392763] Chr1:43346639 [GRCh38]
Chr1:43812310 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1116G>A (p.Pro372=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001434042] Chr1:43346580 [GRCh38]
Chr1:43812251 [GRCh37]
Chr1:1p34.2
likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) single nucleotide variant Abnormal bleeding [RCV001270506] Chr1:43339985 [GRCh38]
Chr1:43805656 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001277588] Chr1:43348997 [GRCh38]
Chr1:43814668 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.548C>T (p.Thr183Met) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001374112]|Congenital amegakaryocytic thrombocytopenia [RCV001826118] Chr1:43339427 [GRCh38]
Chr1:43805098 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001296338] Chr1:43340082 [GRCh38]
Chr1:43805753 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1446G>A (p.Arg482=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001277587]|Congenital amegakaryocytic thrombocytopenia [RCV001482321] Chr1:43348980 [GRCh38]
Chr1:43814651 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.972C>T (p.Pro324=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001414257] Chr1:43340505 [GRCh38]
Chr1:43806176 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1356C>T (p.Arg452=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001421435] Chr1:43348890 [GRCh38]
Chr1:43814561 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.584_585delinsGG (p.Pro195Arg) indel not provided [RCV001356328] Chr1:43339463..43339464 [GRCh38]
Chr1:43805134..43805135 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1167G>A (p.Val389=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001502092] Chr1:43346793 [GRCh38]
Chr1:43812464 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1165+8C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001483018] Chr1:43346637 [GRCh38]
Chr1:43812308 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.198G>A (p.Leu66=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001436567] Chr1:43338217 [GRCh38]
Chr1:43803888 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1140C>G (p.Gly380=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001405413] Chr1:43346604 [GRCh38]
Chr1:43812275 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1359G>A (p.Pro453=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001469287]|not specified [RCV001820162] Chr1:43348893 [GRCh38]
Chr1:43814564 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005373.3(MPL):c.1320G>C (p.Pro440=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001459344] Chr1:43348854 [GRCh38]
Chr1:43814525 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1469-1G>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001378787] Chr1:43349262 [GRCh38]
Chr1:43814933 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1242G>C (p.Ser414=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001426042] Chr1:43346868 [GRCh38]
Chr1:43812539 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.308del (p.Leu103fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001388589] Chr1:43338637 [GRCh38]
Chr1:43804308 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.492C>T (p.Phe164=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001403927] Chr1:43339371 [GRCh38]
Chr1:43805042 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.252del (p.Met84fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001386847] Chr1:43338581 [GRCh38]
Chr1:43804252 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.423C>T (p.Ala141=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001427245] Chr1:43339302 [GRCh38]
Chr1:43804973 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.531G>A (p.Lys177=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001438071] Chr1:43339410 [GRCh38]
Chr1:43805081 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1635C>T (p.Asp545=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001471477] Chr1:43352285 [GRCh38]
Chr1:43817956 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1025del (p.Pro342fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001388018] Chr1:43346488 [GRCh38]
Chr1:43812159 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.27C>T (p.Val9=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001409421] Chr1:43337875 [GRCh38]
Chr1:43803546 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001386061] Chr1:43346889..43346890 [GRCh38]
Chr1:43812560..43812561 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1338A>G (p.Gly446=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001412191] Chr1:43348872 [GRCh38]
Chr1:43814543 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1632G>A (p.Arg544=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001412038] Chr1:43352282 [GRCh38]
Chr1:43817953 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.420G>A (p.Lys140=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001430381] Chr1:43339299 [GRCh38]
Chr1:43804970 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.603_606del (p.His201fs) microsatellite Congenital amegakaryocytic thrombocytopenia [RCV001383384] Chr1:43339478..43339481 [GRCh38]
Chr1:43805149..43805152 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1653+7G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001409699] Chr1:43352310 [GRCh38]
Chr1:43817981 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001384918]|not provided [RCV001820083] Chr1:43348849..43348853 [GRCh38]
Chr1:43814520..43814524 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1023T>C (p.Asn341=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001418703] Chr1:43346487 [GRCh38]
Chr1:43812158 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1014G>A (p.Glu338=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001417849] Chr1:43346478 [GRCh38]
Chr1:43812149 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.579C>T (p.Cys193=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001409943] Chr1:43339458 [GRCh38]
Chr1:43805129 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1469-10T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001426887] Chr1:43349253 [GRCh38]
Chr1:43814924 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001381626] Chr1:43338602 [GRCh38]
Chr1:43804273 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1572G>C (p.Leu524=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001408064] Chr1:43352222 [GRCh38]
Chr1:43817893 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001385395] Chr1:43349357 [GRCh38]
Chr1:43815028 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1566-8T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001408232] Chr1:43352208 [GRCh38]
Chr1:43817879 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.978C>T (p.Asp326=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001428153] Chr1:43340511 [GRCh38]
Chr1:43806182 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1309-1G>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001377235]|Congenital amegakaryocytic thrombocytopenia [RCV001831336] Chr1:43348842 [GRCh38]
Chr1:43814513 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.392-9T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001427387] Chr1:43339262 [GRCh38]
Chr1:43804933 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.230del (p.Cys77fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001381839] Chr1:43338559 [GRCh38]
Chr1:43804230 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1308+8C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001393973] Chr1:43346942 [GRCh38]
Chr1:43812613 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.408C>A (p.Pro136=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001411653] Chr1:43339287 [GRCh38]
Chr1:43804958 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.391+7G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001393995] Chr1:43338727 [GRCh38]
Chr1:43804398 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001384719] Chr1:43346506 [GRCh38]
Chr1:43812177 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.120T>C (p.Cys40=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001468450] Chr1:43338139 [GRCh38]
Chr1:43803810 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.987C>A (p.Pro329=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001490500] Chr1:43346451 [GRCh38]
Chr1:43812122 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1809C>G (p.Pro603=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001462004] Chr1:43352673 [GRCh38]
Chr1:43818344 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.279C>T (p.Cys93=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001458891] Chr1:43338608 [GRCh38]
Chr1:43804279 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1773C>T (p.Tyr591=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001465270] Chr1:43352637 [GRCh38]
Chr1:43818308 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1308+8C>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001451568] Chr1:43346942 [GRCh38]
Chr1:43812613 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.468G>A (p.Glu156=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001459513] Chr1:43339347 [GRCh38]
Chr1:43805018 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1573A>C (p.Arg525=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001480430] Chr1:43352223 [GRCh38]
Chr1:43817894 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.540T>C (p.Thr180=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001483765] Chr1:43339419 [GRCh38]
Chr1:43805090 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.999C>T (p.Asn333=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001456891] Chr1:43346463 [GRCh38]
Chr1:43812134 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1654-5C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001467664] Chr1:43352513 [GRCh38]
Chr1:43818184 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1469-70T>C single nucleotide variant not provided [RCV001652713] Chr1:43349193 [GRCh38]
Chr1:43814864 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.501C>T (p.Tyr167=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001481375] Chr1:43339380 [GRCh38]
Chr1:43805051 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1468+10G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001464398] Chr1:43349012 [GRCh38]
Chr1:43814683 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1573del (p.Arg525fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001379757] Chr1:43352223 [GRCh38]
Chr1:43817894 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.306T>A (p.Arg102=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001504591] Chr1:43338635 [GRCh38]
Chr1:43804306 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1242G>A (p.Ser414=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001490490] Chr1:43346868 [GRCh38]
Chr1:43812539 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.315T>C (p.Phe105=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001504725] Chr1:43338644 [GRCh38]
Chr1:43804315 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1629T>C (p.Leu543=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001506169]|Congenital amegakaryocytic thrombocytopenia [RCV001836425] Chr1:43352279 [GRCh38]
Chr1:43817950 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1818G>A (p.Val606=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001500293] Chr1:43352682 [GRCh38]
Chr1:43818353 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.723C>T (p.Cys241=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001503329] Chr1:43339996 [GRCh38]
Chr1:43805667 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.921C>T (p.Asp307=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001459897] Chr1:43340454 [GRCh38]
Chr1:43806125 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.513T>C (p.Tyr171=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001457236] Chr1:43339392 [GRCh38]
Chr1:43805063 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1719G>A (p.Lys573=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001427517] Chr1:43352583 [GRCh38]
Chr1:43818254 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.80-7T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001432247] Chr1:43338092 [GRCh38]
Chr1:43803763 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.984C>T (p.Tyr328=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001417871] Chr1:43346448 [GRCh38]
Chr1:43812119 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.255C>T (p.Pro85=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001415772] Chr1:43338584 [GRCh38]
Chr1:43804255 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1654-5C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001423676] Chr1:43352513 [GRCh38]
Chr1:43818184 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.534C>T (p.Asn178=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001417545] Chr1:43339413 [GRCh38]
Chr1:43805084 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.333G>A (p.Val111=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001483557] Chr1:43338662 [GRCh38]
Chr1:43804333 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1309-6G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001434761] Chr1:43348837 [GRCh38]
Chr1:43814508 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.795C>T (p.Leu265=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001461671] Chr1:43340068 [GRCh38]
Chr1:43805739 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001380246] Chr1:43346902 [GRCh38]
Chr1:43812573 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.79+7T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001485443] Chr1:43337934 [GRCh38]
Chr1:43803605 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.933C>T (p.Ser311=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001497295] Chr1:43340466 [GRCh38]
Chr1:43806137 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1536G>A (p.Leu512=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001499628]|Congenital amegakaryocytic thrombocytopenia [RCV001832653] Chr1:43349330 [GRCh38]
Chr1:43815001 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) single nucleotide variant not specified [RCV002247983] Chr1:43339457 [GRCh38]
Chr1:43805128 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1505dup (p.Leu504fs) duplication not provided [RCV001782451] Chr1:43349298..43349299 [GRCh38]
Chr1:43814969..43814970 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001733392]|Congenital amegakaryocytic thrombocytopenia [RCV002488495]|not provided [RCV001821972] Chr1:43338696 [GRCh38]
Chr1:43804367 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.1339G>C (p.Gly447Arg) single nucleotide variant not provided [RCV001767429] Chr1:43348873 [GRCh38]
Chr1:43814544 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.413T>C (p.Ile138Thr) single nucleotide variant not provided [RCV001753991] Chr1:43339292 [GRCh38]
Chr1:43804963 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1639G>A (p.Ala547Thr) single nucleotide variant not provided [RCV001768736] Chr1:43352289 [GRCh38]
Chr1:43817960 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1468+1G>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001775450] Chr1:43349003 [GRCh38]
Chr1:43814674 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.212+1G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001885187]|not provided [RCV001782450] Chr1:43338232 [GRCh38]
Chr1:43803903 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1327G>C (p.Gly443Arg) single nucleotide variant not specified [RCV001806696] Chr1:43348861 [GRCh38]
Chr1:43814532 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1454C>T (p.Thr485Ile) single nucleotide variant not provided [RCV001817721] Chr1:43348988 [GRCh38]
Chr1:43814659 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.313_316del (p.Phe105fs) deletion not provided [RCV001817873] Chr1:43338639..43338642 [GRCh38]
Chr1:43804310..43804313 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.399G>A (p.Pro133=) single nucleotide variant not specified [RCV001819584] Chr1:43339278 [GRCh38]
Chr1:43804949 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1115C>T (p.Pro372Leu) single nucleotide variant not specified [RCV001820221] Chr1:43346579 [GRCh38]
Chr1:43812250 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.787A>T (p.Ile263Phe) single nucleotide variant not specified [RCV001820255] Chr1:43340060 [GRCh38]
Chr1:43805731 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.242C>T (p.Ser81Phe) single nucleotide variant not specified [RCV001820460] Chr1:43338571 [GRCh38]
Chr1:43804242 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002478051]|not specified [RCV001817257] Chr1:43338642 [GRCh38]
Chr1:43804313 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.983A>G (p.Tyr328Cys) single nucleotide variant not specified [RCV001822636] Chr1:43346447 [GRCh38]
Chr1:43812118 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1633G>A (p.Asp545Asn) single nucleotide variant not specified [RCV001820412] Chr1:43352283 [GRCh38]
Chr1:43817954 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) single nucleotide variant not specified [RCV001820684] Chr1:43340048 [GRCh38]
Chr1:43805719 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002025904]|Congenital amegakaryocytic thrombocytopenia [RCV002486650] Chr1:43339339 [GRCh38]
Chr1:43805010 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.292C>G (p.Gln98Glu) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001926978] Chr1:43338621 [GRCh38]
Chr1:43804292 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1731G>A (p.Arg577=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002025229] Chr1:43352595 [GRCh38]
Chr1:43818266 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001970102] Chr1:43346845 [GRCh38]
Chr1:43812516 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001946992] Chr1:43349326..43349329 [GRCh38]
Chr1:43814997..43815000 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001970170] Chr1:43349282..43349283 [GRCh38]
Chr1:43814953..43814954 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.980+2T>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002045066] Chr1:43340515 [GRCh38]
Chr1:43806186 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.690+2T>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002003697] Chr1:43339571 [GRCh38]
Chr1:43805242 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.12G>A (p.Trp4Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001837551] Chr1:43337860 [GRCh38]
Chr1:43803531 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33
pathogenic
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002002275] Chr1:43338209 [GRCh38]
Chr1:43803880 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.605dup (p.Ala203fs) duplication Congenital amegakaryocytic thrombocytopenia [RCV001895385] Chr1:43339483..43339484 [GRCh38]
Chr1:43805154..43805155 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001908157] Chr1:43346809 [GRCh38]
Chr1:43812480 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001969972] Chr1:43348912 [GRCh38]
Chr1:43814583 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.407C>A (p.Pro136His) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001891969] Chr1:43339286 [GRCh38]
Chr1:43804957 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1346dup (p.Glu450fs) duplication Congenital amegakaryocytic thrombocytopenia [RCV001890655] Chr1:43348879..43348880 [GRCh38]
Chr1:43814550..43814551 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.22A>G (p.Met8Val) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001912713] Chr1:43337870 [GRCh38]
Chr1:43803541 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs) duplication Congenital amegakaryocytic thrombocytopenia [RCV001941785] Chr1:43348996..43348997 [GRCh38]
Chr1:43814667..43814668 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.79+1G>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001980621] Chr1:43337928 [GRCh38]
Chr1:43803599 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.972_973del (p.Asp326fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001901133] Chr1:43340505..43340506 [GRCh38]
Chr1:43806176..43806177 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.213-7C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002000109] Chr1:43338535 [GRCh38]
Chr1:43804206 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001941570]|Congenital amegakaryocytic thrombocytopenia [RCV002507695] Chr1:43348965 [GRCh38]
Chr1:43814636 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001972624] Chr1:43349340 [GRCh38]
Chr1:43815011 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1563C>T (p.Tyr521=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001934028] Chr1:43349357 [GRCh38]
Chr1:43815028 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) deletion Congenital amegakaryocytic thrombocytopenia [RCV001953461] Chr1:43346930 [GRCh38]
Chr1:43812601 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1225_1226insT (p.Glu409fs) insertion Congenital amegakaryocytic thrombocytopenia [RCV001881209] Chr1:43346851..43346852 [GRCh38]
Chr1:43812522..43812523 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001936647] Chr1:43348976 [GRCh38]
Chr1:43814647 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001953845] Chr1:43338208 [GRCh38]
Chr1:43803879 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001922811] Chr1:43349335 [GRCh38]
Chr1:43815006 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001923431] Chr1:43339357 [GRCh38]
Chr1:43805028 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.842del (p.Pro281fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001867660] Chr1:43340114 [GRCh38]
Chr1:43805785 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) microsatellite Congenital amegakaryocytic thrombocytopenia [RCV001907221] Chr1:43352674..43352677 [GRCh38]
Chr1:43818345..43818348 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1683A>G (p.Glu561=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001931950] Chr1:43352547 [GRCh38]
Chr1:43818218 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1566-1G>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002012532]|Congenital amegakaryocytic thrombocytopenia [RCV002497985] Chr1:43352215 [GRCh38]
Chr1:43817886 [GRCh37]
Chr1:1p34.2
likely pathogenic
NC_000001.10:g.(?_43800988)_(43803797_?)del deletion Congenital amegakaryocytic thrombocytopenia [RCV001956411] Chr1:43800988..43803797 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.311del (p.Phe104fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001993360] Chr1:43338639 [GRCh38]
Chr1:43804310 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.94del (p.Ala32fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV001953438] Chr1:43338112 [GRCh38]
Chr1:43803783 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001903410] Chr1:43348901 [GRCh38]
Chr1:43814572 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV001980981] Chr1:43352608 [GRCh38]
Chr1:43818279 [GRCh37]
Chr1:1p34.2
uncertain significance
NC_000001.10:g.(?_42922237)_(44395893_?)del deletion not provided [RCV001939188] Chr1:42922237..44395893 [GRCh37]
Chr1:1p34.2-34.1
pathogenic
NM_005373.3(MPL):c.1166-1G>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002048862] Chr1:43346791 [GRCh38]
Chr1:43812462 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.655dup (p.Gln219fs) duplication Congenital amegakaryocytic thrombocytopenia [RCV001994731] Chr1:43339533..43339534 [GRCh38]
Chr1:43805204..43805205 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005373.3(MPL):c.519C>T (p.Pro173=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002185562] Chr1:43339398 [GRCh38]
Chr1:43805069 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1371C>T (p.Tyr457=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002148527] Chr1:43348905 [GRCh38]
Chr1:43814576 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1166-6C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002088493] Chr1:43346786 [GRCh38]
Chr1:43812457 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.750C>T (p.Asn250=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002128469] Chr1:43340023 [GRCh38]
Chr1:43805694 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.854-10T>C single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002089177] Chr1:43340377 [GRCh38]
Chr1:43806048 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1345C>T (p.Leu449=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002146441] Chr1:43348879 [GRCh38]
Chr1:43814550 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.69C>A (p.Val23=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002074825] Chr1:43337917 [GRCh38]
Chr1:43803588 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1761C>T (p.Ala587=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002207712] Chr1:43352625 [GRCh38]
Chr1:43818296 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.213-6C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002144879] Chr1:43338536 [GRCh38]
Chr1:43804207 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1605G>T (p.Leu535=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002147695] Chr1:43352255 [GRCh38]
Chr1:43817926 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1428G>T (p.Ser476=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002165417] Chr1:43348962 [GRCh38]
Chr1:43814633 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1215T>C (p.His405=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002187491] Chr1:43346841 [GRCh38]
Chr1:43812512 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.783T>C (p.Asp261=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002147643] Chr1:43340056 [GRCh38]
Chr1:43805727 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1443T>C (p.Thr481=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002074855] Chr1:43348977 [GRCh38]
Chr1:43814648 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1665A>G (p.Thr555=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002169100] Chr1:43352529 [GRCh38]
Chr1:43818200 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1011A>G (p.Glu337=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002167740] Chr1:43346475 [GRCh38]
Chr1:43812146 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1468+7C>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002126849] Chr1:43349009 [GRCh38]
Chr1:43814680 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1353G>A (p.Leu451=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002210743] Chr1:43348887 [GRCh38]
Chr1:43814558 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1434G>C (p.Ser478=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002076979] Chr1:43348968 [GRCh38]
Chr1:43814639 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.42C>T (p.Leu14=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002213036] Chr1:43337890 [GRCh38]
Chr1:43803561 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.80-9G>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002130699] Chr1:43338090 [GRCh38]
Chr1:43803761 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.690+10C>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002106765] Chr1:43339579 [GRCh38]
Chr1:43805250 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.432G>C (p.Gly144=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002153578] Chr1:43339311 [GRCh38]
Chr1:43804982 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.618G>C (p.Leu206=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002153795] Chr1:43339497 [GRCh38]
Chr1:43805168 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.6C>T (p.Pro2=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002071129] Chr1:43337854 [GRCh38]
Chr1:43803525 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.684T>C (p.Ser228=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002115437] Chr1:43339563 [GRCh38]
Chr1:43805234 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1654-9C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002215488] Chr1:43352509 [GRCh38]
Chr1:43818180 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1469-7C>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002093147] Chr1:43349256 [GRCh38]
Chr1:43814927 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1143C>T (p.Ser381=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002210506] Chr1:43346607 [GRCh38]
Chr1:43812278 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1254C>G (p.Ala418=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002149732] Chr1:43346880 [GRCh38]
Chr1:43812551 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.207C>T (p.Tyr69=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002196321] Chr1:43338226 [GRCh38]
Chr1:43803897 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.696A>T (p.Ser232=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002153260] Chr1:43339969 [GRCh38]
Chr1:43805640 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.105A>G (p.Ser35=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002212428] Chr1:43338124 [GRCh38]
Chr1:43803795 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1542G>A (p.Arg514=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002078650] Chr1:43349336 [GRCh38]
Chr1:43815007 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1407C>T (p.Thr469=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002117570] Chr1:43348941 [GRCh38]
Chr1:43814612 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.51T>G (p.Pro17=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002179041] Chr1:43337899 [GRCh38]
Chr1:43803570 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.96A>G (p.Ala32=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002138454] Chr1:43338115 [GRCh38]
Chr1:43803786 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1468+8A>G single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002182074] Chr1:43349010 [GRCh38]
Chr1:43814681 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.853+10C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002159006] Chr1:43340136 [GRCh38]
Chr1:43805807 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.840G>A (p.Leu280=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002120955] Chr1:43340113 [GRCh38]
Chr1:43805784 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1653+10C>T single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002218568] Chr1:43352313 [GRCh38]
Chr1:43817984 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1381C>T (p.Leu461=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002160162] Chr1:43348915 [GRCh38]
Chr1:43814586 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1566-3del deletion Congenital amegakaryocytic thrombocytopenia [RCV002082545] Chr1:43352209 [GRCh38]
Chr1:43817880 [GRCh37]
Chr1:1p34.2
benign
NM_005373.3(MPL):c.1671dup (p.Asp558fs) duplication Congenital amegakaryocytic thrombocytopenia [RCV002250838] Chr1:43352534..43352535 [GRCh38]
Chr1:43818205..43818206 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1119T>G (p.Gly373=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002119826] Chr1:43346583 [GRCh38]
Chr1:43812254 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.447A>G (p.Glu149=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002118405] Chr1:43339326 [GRCh38]
Chr1:43804997 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1200G>A (p.Glu400=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002138534] Chr1:43346826 [GRCh38]
Chr1:43812497 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1554T>G (p.Pro518=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002175225] Chr1:43349348 [GRCh38]
Chr1:43815019 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.576C>T (p.Thr192=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002219091] Chr1:43339455 [GRCh38]
Chr1:43805126 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1857C>T (p.Thr619=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002219095] Chr1:43352721 [GRCh38]
Chr1:43818392 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1272A>G (p.Gln424=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002177874] Chr1:43346898 [GRCh38]
Chr1:43812569 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.853+7C>A single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002204383] Chr1:43340133 [GRCh38]
Chr1:43805804 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.663A>G (p.Gly221=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002101679] Chr1:43339542 [GRCh38]
Chr1:43805213 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.1245C>A (p.Ser415=) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002122385] Chr1:43346871 [GRCh38]
Chr1:43812542 [GRCh37]
Chr1:1p34.2
likely benign
NM_005373.3(MPL):c.382G>T (p.Asp128Tyr) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002283738] Chr1:43338711 [GRCh38]
Chr1:43804382 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.1385G>C (p.Arg462Pro) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002264882] Chr1:43348919 [GRCh38]
Chr1:43814590 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.131C>T (p.Thr44Ile) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002264883] Chr1:43338150 [GRCh38]
Chr1:43803821 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.757T>C (p.Trp253Arg) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002466906] Chr1:43340030 [GRCh38]
Chr1:43805701 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs) insertion Congenital amegakaryocytic thrombocytopenia [RCV002308073] Chr1:43338680..43338681 [GRCh38]
Chr1:43804351..43804352 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1058del (p.His353fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002309547] Chr1:43346522 [GRCh38]
Chr1:43812193 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.155G>A (p.Trp52Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002308412] Chr1:43338174 [GRCh38]
Chr1:43803845 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.731C>A (p.Ser244Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002310155] Chr1:43340004 [GRCh38]
Chr1:43805675 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002309732] Chr1:43348918..43348922 [GRCh38]
Chr1:43814589..43814593 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.680del (p.Pro227fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002309945] Chr1:43339556 [GRCh38]
Chr1:43805227 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.56del (p.Asn19fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002306720] Chr1:43337901 [GRCh38]
Chr1:43803572 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs) indel Congenital amegakaryocytic thrombocytopenia [RCV002306595] Chr1:43338694..43338695 [GRCh38]
Chr1:43804365..43804366 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs) insertion Congenital amegakaryocytic thrombocytopenia [RCV002306616] Chr1:43337893..43337894 [GRCh38]
Chr1:43803564..43803565 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer) insertion Congenital amegakaryocytic thrombocytopenia [RCV002306669] Chr1:43346609..43346610 [GRCh38]
Chr1:43812280..43812281 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs) insertion Congenital amegakaryocytic thrombocytopenia [RCV002307222] Chr1:43338166..43338167 [GRCh38]
Chr1:43803837..43803838 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.292C>T (p.Gln98Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002307031] Chr1:43338621 [GRCh38]
Chr1:43804292 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002298136] Chr1:43346489 [GRCh38]
Chr1:43812160 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.973A>T (p.Arg325Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002309142] Chr1:43340506 [GRCh38]
Chr1:43806177 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.992G>A (p.Trp331Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002309307] Chr1:43346456 [GRCh38]
Chr1:43812127 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002309344] Chr1:43346896..43346897 [GRCh38]
Chr1:43812567..43812568 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002303247] Chr1:43338225 [GRCh38]
Chr1:43803896 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005373.3(MPL):c.862_864delinsT (p.Gly288fs) indel Congenital amegakaryocytic thrombocytopenia [RCV002309776] Chr1:43340395..43340397 [GRCh38]
Chr1:43806066..43806068 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.579C>A (p.Cys193Ter) single nucleotide variant Congenital amegakaryocytic thrombocytopenia [RCV002308069] Chr1:43339458 [GRCh38]
Chr1:43805129 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.398del (p.Pro133fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002309850] Chr1:43339276 [GRCh38]
Chr1:43804947 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005373.3(MPL):c.408_409del (p.Ser137fs) deletion Congenital amegakaryocytic thrombocytopenia [RCV002308465] Chr1:43339287..43339288 [GRCh38]
Chr1:43804958..43804959 [GRCh37]
Chr1:1p34.2
likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR98hsa-miR-98-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIR151Ahsa-miR-151a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20445018
MIRLET7Dhsa-let-7d-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIRLET7Ehsa-let-7e-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIRLET7Chsa-let-7c-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIRLET7F1hsa-let-7f-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIRLET7F2hsa-let-7f-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIR708hsa-miR-708-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20445018
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20445018
MIR28hsa-miR-28-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20445018
MIR28hsa-miR-28-5pOncomiRDBexternal_infoNANA20445018

Predicted Target Of
Summary Value
Count of predictions:550
Count of miRNA genes:424
Interacting mature miRNAs:436
Transcripts:ENST00000372470, ENST00000413998
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH80231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,818,461 - 43,818,701UniSTSGRCh37
Build 36143,591,048 - 43,591,288RGDNCBI36
Celera142,100,606 - 42,100,846RGD
Cytogenetic Map1p34UniSTS
HuRef141,938,297 - 41,938,537UniSTS
GeneMap99-GB4 RH Map1129.98UniSTS
PMC15907P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,812,029 - 43,812,676UniSTSGRCh37
Build 36143,584,616 - 43,585,263RGDNCBI36
Celera142,094,179 - 42,094,826RGD
Cytogenetic Map1p34UniSTS
HuRef141,931,870 - 41,932,517UniSTS
PMC15907P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,814,402 - 43,814,713UniSTSGRCh37
Build 36143,586,989 - 43,587,300RGDNCBI36
Celera142,096,552 - 42,096,863RGD
Cytogenetic Map1p34UniSTS
HuRef141,934,243 - 41,934,554UniSTS
PMC15907P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,804,904 - 43,805,283UniSTSGRCh37
Build 36143,577,491 - 43,577,870RGDNCBI36
Celera142,087,054 - 42,087,433RGD
Cytogenetic Map1p34UniSTS
HuRef141,924,809 - 41,925,188UniSTS
PMC15907P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,805,598 - 43,806,229UniSTSGRCh37
Build 36143,578,185 - 43,578,816RGDNCBI36
Celera142,087,748 - 42,088,379RGD
Cytogenetic Map1p34UniSTS
HuRef141,925,503 - 41,926,134UniSTS
PMC15907P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,817,777 - 43,818,542UniSTSGRCh37
Build 36143,590,364 - 43,591,129RGDNCBI36
Celera142,099,922 - 42,100,687RGD
Cytogenetic Map1p34UniSTS
HuRef141,937,613 - 41,938,378UniSTS
SHGC-74727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,820,087 - 43,820,220UniSTSGRCh37
Build 36143,592,674 - 43,592,807RGDNCBI36
Celera142,102,232 - 42,102,365RGD
Cytogenetic Map1p34UniSTS
HuRef141,939,927 - 41,940,060UniSTS
TNG Radiation Hybrid Map121805.0UniSTS
GeneMap99-GB4 RH Map1139.31UniSTS
MARC_4067-4068:996679330:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,817,919 - 43,818,331UniSTSGRCh37
Build 36143,590,506 - 43,590,918RGDNCBI36
Celera142,100,064 - 42,100,476RGD
HuRef141,937,755 - 41,938,167UniSTS
D13S1553  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2-q34.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6p25.1UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 14 1
Low 364 393 400 27 207 27 1016 221 769 94 779 808 4 381 576 1
Below cutoff 2028 2528 1216 507 1361 350 3213 1854 2864 287 652 769 165 815 2129 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ234353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF964490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY386296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372470   ⟹   ENSP00000361548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl143,337,818 - 43,354,466 (+)Ensembl
RefSeq Acc Id: ENST00000413998   ⟹   ENSP00000414004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl143,337,849 - 43,352,772 (+)Ensembl
RefSeq Acc Id: ENST00000638732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl143,337,849 - 43,349,537 (+)Ensembl
RefSeq Acc Id: ENST00000643351   ⟹   ENSP00000495154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl143,349,263 - 43,352,736 (+)Ensembl
RefSeq Acc Id: NM_005373   ⟹   NP_005364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,337,818 - 43,354,466 (+)NCBI
GRCh37143,803,475 - 43,820,135 (+)ENTREZGENE
Build 36143,576,062 - 43,592,722 (+)NCBI Archive
HuRef141,923,380 - 41,939,975 (+)ENTREZGENE
CHM1_1143,919,946 - 43,936,585 (+)NCBI
T2T-CHM13v2.0143,208,365 - 43,225,013 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005364   ⟸   NM_005373
- Peptide Label: precursor
- UniProtKB: Q5JUZ0 (UniProtKB/Swiss-Prot),   P40238 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361548   ⟸   ENST00000372470
RefSeq Acc Id: ENSP00000414004   ⟸   ENST00000413998
RefSeq Acc Id: ENSP00000495154   ⟸   ENST00000643351
Protein Domains
Fibronectin type-III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40238-F1-model_v2 AlphaFold P40238 1-635 view protein structure

Promoters
RGD ID:6855224
Promoter ID:EPDNEW_H777
Type:initiation region
Name:MPL_1
Description:MPL proto-oncogene, thrombopoietin receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38143,337,832 - 43,337,892EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7217 AgrOrtholog
COSMIC MPL COSMIC
Ensembl Genes ENSG00000117400 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361548 ENTREZGENE
  ENSP00000361548.3 UniProtKB/Swiss-Prot
  ENSP00000414004.3 UniProtKB/TrEMBL
  ENSP00000495154.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372470 ENTREZGENE
  ENST00000372470.9 UniProtKB/Swiss-Prot
  ENST00000413998.7 UniProtKB/TrEMBL
  ENST00000643351.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117400 GTEx
HGNC ID HGNC:7217 ENTREZGENE
Human Proteome Map MPL Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth/epo_recpt_lig-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Long_hematopoietin_rcpt_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4352 UniProtKB/Swiss-Prot
NCBI Gene 4352 ENTREZGENE
OMIM 159530 OMIM
  254450 OMIM
  601977 OMIM
  604498 OMIM
Pfam EpoR_lig-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30923 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_L_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A142IKC3_HUMAN UniProtKB/TrEMBL
  A0A142IKC6_HUMAN UniProtKB/TrEMBL
  A0A2H4PKE3_HUMAN UniProtKB/TrEMBL
  A0A2R8YE13_HUMAN UniProtKB/TrEMBL
  P40238 ENTREZGENE
  Q5JUY5_HUMAN UniProtKB/TrEMBL
  Q5JUZ0 ENTREZGENE
  TPOR_HUMAN UniProtKB/Swiss-Prot
  W8QGV4_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5JUZ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-01 MPL  MPL proto-oncogene, thrombopoietin receptor    myeloproliferative leukemia virus oncogene  Symbol and/or name change 5135510 APPROVED
2011-08-16 MPL  myeloproliferative leukemia virus oncogene  MPL  myeloproliferative leukemia virus oncogene  Symbol and/or name change 5135510 APPROVED