MPL (MPL proto-oncogene, thrombopoietin receptor)

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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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	43,337,818 - 43,354,466 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	1	43,337,818 - 43,354,466 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	43,803,489 - 43,820,137 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	43,576,062 - 43,592,722 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	43,472,567 - 43,489,228	NCBI
Celera	1	42,085,625 - 42,102,280 (+)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	41,923,380 - 41,939,975 (+)	NCBI		HuRef
CHM1_1	1	43,919,946 - 43,936,585 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	43,208,365 - 43,225,013 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease dominant intermediate C (IAGP)

Chronic Hepatitis B (HEP)

congenital amegakaryocytic thrombocytopenia (IAGP)

essential thrombocythemia (IAGP,IEP)

Hematologic Neoplasms (IAGP)

hemorrhagic disease (IAGP)

hepatitis B (IEP)

hepatitis C (IEP)

hepatocellular carcinoma (ISO)

Liver Metastasis (IEP,ISO)

medulloblastoma (EXP)

myelofibrosis (IAGP,ISO)

myeloid leukemia (IEP)

myeloid neoplasm (EXP)

myeloproliferative neoplasm (IAGP)

Thrombocythemia 2 (IAGP)

thrombocytopenia (IAGP,IDA,IMP,ISO)

thrombocytosis (EXP,IAGP)

Thrombocytosis, Benign Familial Microcytic (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-naphthyl isothiocyanate (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2-hydroxypropanoic acid (EXP)

3-methylcholanthrene (ISO)

4,4'-diaminodiphenylmethane (ISO)

5-aza-2'-deoxycytidine (EXP)

Aflatoxin B2 alpha (EXP)

anagrelide (EXP)

antirheumatic drug (EXP)

arsenous acid (EXP)

benzamide (EXP)

benzene (EXP,ISO)

benzo[a]pyrene (EXP)

benzo[b]fluoranthene (ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

cadmium atom (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

diarsenic trioxide (EXP)

eltrombopag (EXP)

hydroquinone (EXP)

midostaurin (EXP)

nickel atom (EXP)

pentachlorophenol (ISO)

perfluorohexanesulfonic acid (EXP)

perfluorononanoic acid (EXP)

potassium dichromate (ISO)

propiconazole (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

urethane (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

basophil homeostasis (IEA,ISO)

cellular response to hypoxia (IEA,ISO)

cytokine-mediated signaling pathway (IBA,IEA)

definitive hemopoiesis (ISO)

eosinophil homeostasis (IEA,ISO)

hemopoiesis (IBA)

homeostasis of number of cells (ISO)

monocyte homeostasis (IEA,ISO)

negative regulation of apoptotic process (ISO)

neutrophil homeostasis (IEA,ISO)

platelet aggregation (IEA,ISO)

platelet formation (ISO)

positive regulation of cell population proliferation (IBA)

positive regulation of gene expression (ISO)

positive regulation of lymphocyte proliferation (IEA,ISO)

positive regulation of platelet formation (IEA,ISO)

regulation of chemokine production (ISO)

regulation of stem cell division (ISO)

regulation of stem cell proliferation (ISO)

thrombopoietin-mediated signaling pathway (IBA,IEA)

Cellular Component

cell surface (IDA,IEA,ISO)

external side of plasma membrane (IBA)

Golgi apparatus (IDA,IEA)

membrane (IEA)

neuron projection (IEA,ISO)

neuronal cell body (IEA,ISO)

nuclear membrane (IDA)

plasma membrane (IDA,IEA,ISO,TAS)

Molecular Function

cytokine receptor activity (IBA,IEA)

protein binding (IPI)

thrombopoietin receptor activity (IBA,IMP)

Molecular Pathway Annotations Click to see Annotation Detail View

Jak-Stat signaling pathway (IEA)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	43,337,818 - 43,354,466 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	1	43,337,818 - 43,354,466 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	43,803,489 - 43,820,137 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	43,576,062 - 43,592,722 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	43,472,567 - 43,489,228	NCBI
Celera	1	42,085,625 - 42,102,280 (+)	NCBI		Celera
Cytogenetic Map	1	p34.2	NCBI
HuRef	1	41,923,380 - 41,939,975 (+)	NCBI		HuRef
CHM1_1	1	43,919,946 - 43,936,585 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	43,208,365 - 43,225,013 (+)	NCBI		T2T-CHM13v2.0

Mpl
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	118,299,609 - 118,314,771 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	118,299,612 - 118,314,710 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	118,442,412 - 118,457,688 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	118,442,415 - 118,457,513 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	118,115,022 - 118,130,100 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	117,940,347 - 117,955,403 (-)	NCBI		MGSCv36	mm8
Celera	4	117,167,633 - 117,182,859 (-)	NCBI		Celera
Cytogenetic Map	4	D2.1	NCBI
cM Map	4	54.61	NCBI

Mpl
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	5	131,973,897 - 131,987,472 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	131,973,895 - 131,986,797 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	5	137,268,412 - 137,282,032 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	137,269,480 - 137,281,298 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	141,057,876 - 141,070,834 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	138,921,281 - 138,931,990 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	138,922,155 - 138,937,216 (-)	NCBI
Celera	5	130,519,369 - 130,532,972 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Mpl
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955537	2,922,156 - 2,937,223 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955537	2,922,156 - 2,937,223 (+)	NCBI	ChiLan1.0	ChiLan1.0

MPL
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	1	44,018,395 - 44,034,492 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	44,018,395 - 44,034,492 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	1	42,639,191 - 42,654,738 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

MPL
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	16,815,102 - 16,825,321 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	16,815,294 - 16,825,350 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	16,937,406 - 16,953,302 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	16,977,122 - 16,993,028 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	16,978,816 - 16,993,003 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	16,769,591 - 16,785,487 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	16,838,589 - 16,854,485 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	16,912,170 - 16,928,047 (-)	NCBI		UU_Cfam_GSD_1.0

Mpl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	58,919,891 - 58,932,407 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	24,744,673 - 24,757,085 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936474	24,744,673 - 24,757,189 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MPL
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	167,896,287 - 167,908,625 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	167,896,191 - 167,908,988 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	155,334,350 - 155,335,846 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MPL
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	89,457,549 - 89,474,756 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	89,459,493 - 89,474,352 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	27,447,284 - 27,462,737 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mpl
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624892	2,656,260 - 2,669,946 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624892	2,656,260 - 2,671,455 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

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 Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR98	hsa-miR-98-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIR151A	hsa-miR-151a-5p	Mirtarbase	external_info	Luciferase reporter assay//Western blot	Functional MTI	20445018
MIRLET7D	hsa-let-7d-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIRLET7E	hsa-let-7e-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIRLET7C	hsa-let-7c-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIRLET7F1	hsa-let-7f-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIRLET7F2	hsa-let-7f-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIR708	hsa-miR-708-3p	Mirtarbase	external_info	Luciferase reporter assay//Western blot	Functional MTI	20445018
MIRLET7A2	hsa-let-7a-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIRLET7A1	hsa-let-7a-5p	Mirtarbase	external_info	Luciferase reporter assay	Non-Functional MTI	20445018
MIR28	hsa-miR-28-5p	Mirtarbase	external_info	Luciferase reporter assay//qRT-PCR//Western blot	Functional MTI	20445018
MIR28	hsa-miR-28-5p	OncomiRDB	external_info	NA	NA	20445018

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 Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,818,461 - 43,818,701	UniSTS	GRCh37
Build 36	1	43,591,048 - 43,591,288	RGD	NCBI36
Celera	1	42,100,606 - 42,100,846	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,938,297 - 41,938,537	UniSTS
GeneMap99-GB4 RH Map	1	129.98	UniSTS

PMC15907P1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,812,029 - 43,812,676	UniSTS	GRCh37
Build 36	1	43,584,616 - 43,585,263	RGD	NCBI36
Celera	1	42,094,179 - 42,094,826	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,931,870 - 41,932,517	UniSTS

PMC15907P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,814,402 - 43,814,713	UniSTS	GRCh37
Build 36	1	43,586,989 - 43,587,300	RGD	NCBI36
Celera	1	42,096,552 - 42,096,863	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,934,243 - 41,934,554	UniSTS

PMC15907P3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,804,904 - 43,805,283	UniSTS	GRCh37
Build 36	1	43,577,491 - 43,577,870	RGD	NCBI36
Celera	1	42,087,054 - 42,087,433	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,924,809 - 41,925,188	UniSTS

PMC15907P4

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,805,598 - 43,806,229	UniSTS	GRCh37
Build 36	1	43,578,185 - 43,578,816	RGD	NCBI36
Celera	1	42,087,748 - 42,088,379	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,925,503 - 41,926,134	UniSTS

PMC15907P5

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,817,777 - 43,818,542	UniSTS	GRCh37
Build 36	1	43,590,364 - 43,591,129	RGD	NCBI36
Celera	1	42,099,922 - 42,100,687	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,937,613 - 41,938,378	UniSTS

SHGC-74727

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,820,087 - 43,820,220	UniSTS	GRCh37
Build 36	1	43,592,674 - 43,592,807	RGD	NCBI36
Celera	1	42,102,232 - 42,102,365	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	41,939,927 - 41,940,060	UniSTS
TNG Radiation Hybrid Map	1	21805.0	UniSTS
GeneMap99-GB4 RH Map	1	139.31	UniSTS

MARC_4067-4068:996679330:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	43,817,919 - 43,818,331	UniSTS	GRCh37
Build 36	1	43,590,506 - 43,590,918	RGD	NCBI36
Celera	1	42,100,064 - 42,100,476	RGD
HuRef	1	41,937,755 - 41,938,167	UniSTS

D13S1553

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	9	q34.2-q34.3	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	3	p21.1-p14.2	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	6	p25.1	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

364

393

400

207

1016

221

769

779

808

381

576

Below cutoff

2028

2528

1216

507

1361

350

3213

1854

2864

287

652

769

165

815

2129

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	43,337,818 - 43,354,466 (+)	Ensembl

RefSeq Acc Id:

ENST00000413998 ⟹ ENSP00000414004

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	43,337,849 - 43,352,772 (+)	Ensembl

RefSeq Acc Id:

ENST00000638732

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	43,337,849 - 43,349,537 (+)	Ensembl

RefSeq Acc Id:

ENST00000643351 ⟹ ENSP00000495154

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	43,349,263 - 43,352,736 (+)	Ensembl

RefSeq Acc Id:

NM_005373 ⟹ NP_005364

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	43,337,818 - 43,354,466 (+)	NCBI
GRCh37	1	43,803,475 - 43,820,135 (+)	ENTREZGENE
Build 36	1	43,576,062 - 43,592,722 (+)	NCBI Archive
HuRef	1	41,923,380 - 41,939,975 (+)	ENTREZGENE
CHM1_1	1	43,919,946 - 43,936,585 (+)	NCBI
T2T-CHM13v2.0	1	43,208,365 - 43,225,013 (+)	NCBI

Sequence:

show sequence

GGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCC
TGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGATGTCTCCTTGCTGGCAT
CAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGA
GGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGGAGAAGCCCCGT
GCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAG
ACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCA
GACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGCCTGCCGGCTCCCCCCAGTATCATC
AAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAA
TCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCC
CACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCC
TCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGA
CCTCCCCAAGTAGAGAAGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACT
CCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGC
TCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGTGGCACTTGGAC
TGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAG
CTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTACCCCATCTGG
GAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCC
ACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTAC
TGTTCACAGCTACCTGGGCTCCCCTTTCTGGATCCACCAGGCTGTGCGCCTCCCCACCCCAAAC
TTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGG
CAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTGCT
GGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTA
CAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAA
CTAGGGTGGAGACCGCCACCGAGACCGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCT
GGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGAGA
CTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGG
ACACTGCAGCCCTGAGCCCGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAG
CCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCC
CAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCAC
CCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAG
CTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTC
GAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCA
TCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACA
TAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTC
TCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTT
GAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACC
TCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTG
TAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTC
TTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCT
GCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTG
CCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACG
ATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAG
CTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTC
ACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAA
GTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGA
GACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACC
TTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAG
TTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAG
CTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGG
GATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCC
TAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTC
TTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCC
ATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCT
ACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTG
TGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGC
TTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005364	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA69971	(Get FASTA)	NCBI Sequence Viewer
	AAA69972	(Get FASTA)	NCBI Sequence Viewer
	AAB08424	(Get FASTA)	NCBI Sequence Viewer
	ABB29982	(Get FASTA)	NCBI Sequence Viewer
	AHL44293	(Get FASTA)	NCBI Sequence Viewer
	AMR60759	(Get FASTA)	NCBI Sequence Viewer
	AMR60760	(Get FASTA)	NCBI Sequence Viewer
	AMR60761	(Get FASTA)	NCBI Sequence Viewer
	AMR60762	(Get FASTA)	NCBI Sequence Viewer
	AMR60763	(Get FASTA)	NCBI Sequence Viewer
	AMR60764	(Get FASTA)	NCBI Sequence Viewer
	AMR60765	(Get FASTA)	NCBI Sequence Viewer
	AMR60766	(Get FASTA)	NCBI Sequence Viewer
	AMR60767	(Get FASTA)	NCBI Sequence Viewer
	ATW64123	(Get FASTA)	NCBI Sequence Viewer
	EAX07103	(Get FASTA)	NCBI Sequence Viewer
	EAX07104	(Get FASTA)	NCBI Sequence Viewer
	EAX07105	(Get FASTA)	NCBI Sequence Viewer
	P40238	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_005364 ⟸ NM_005373
- Peptide Label:	precursor
- UniProtKB:	Q5JUZ0 (UniProtKB/Swiss-Prot), P40238 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQ LLYAYPREKPRACPLSSQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVD SVGLPAPPSIIKAMGGSQPGELQISWEEPAPEISDFLRYELRYGPRDPKNSTGPTVIQLIATET CCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGSCLISGLQPGNSYWLQL RSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFW IHQAVRLPTPNLHWREISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGT LELRPRSRYRLQLRARLNGPTYQGPWSSWSDPTRVETATETAWISLVTALHLVLGLSAVLGLLL LRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTCEEVEPSLLEILPKSSE RTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	1	43,337,832 - 43,337,892	EPDNEW

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar