Total 4 pathogenic variants reported for Myeloproliferative disorder

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	SNV Germline	Chr11:119278541	Pathogenic/Likely pathogenic	RASopathy CBL-related disorder Rhabdomyosarcoma Condition: not provided Myeloproliferative disorder Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA123490	rs_267606708	12 SubmittersRCV000816470 RCV001705593 RCV001257538 RCV000414703 RCV003447475 RCV004558248
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg)	SNV Germline	Chr5:150125501	Pathogenic	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Myeloproliferative disorder, chronic, with eosinophilia	Criteria Provided Single Submitter	CA279057	rs_863224946	2 SubmittersRCV000200957 RCV001335958
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)	SNV Germline/somatic	Chr2:25240420	Conflicting classifications of pathogenicity	Myeloproliferative disorder Condition: not provided not specified Tatton-Brown-Rahman overgrowth syndrome Malignant lymphoma, large B-cell, diffuse DNMT3A-related disorder	Criteria Provided Conflicting Classifications		rs_147828672	6 SubmittersRCV001003798 RCV001776076 RCV002249617 RCV002471010 RCV003448984 RCV004746194
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser)	SNV Germline	Chr5:150124276	Pathogenic/Likely pathogenic	Myeloproliferative disorder, chronic, with eosinophilia Condition: not provided Acroosteolysis-keloid-like lesions-premature aging syndrome See cases	Criteria Provided Multiple Submitters No Conflicts		rs_2113894766	4 SubmittersRCV002250183 RCV003128852 RCV003754933 RCV003232565