Total 7 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	Condition: not provided RASopathy Rhabdomyosarcoma CBL-related disorder Myeloproliferative disorder Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA123490	rs_267606708	10 SubmittersRCV000414703 RCV000816470 RCV001257538 RCV001705593 RCV003447475 RCV004558248
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	SNV Germline/somatic	Chr4:1804372	Pathogenic	Thanatophoric dysplasia type 1 Condition: not provided Urinary bladder carcinoma Carcinoma Myeloproliferative disorder Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder See cases	Criteria Provided Multiple Submitters No Conflicts	CA341413	rs_121913485	17 SubmittersRCV000017751 RCV000255235 RCV000442248 RCV000419796 RCV000421104 RCV000427428 RCV000434824 RCV003155034
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_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)	SNV Somatic	Chr5:150061765	Likely pathogenic	Hematologic neoplasm Myeloproliferative disorder	No Assertion Criteria Provided	CA16602623	rs_1057519802	1 SubmittersRCV000430977 RCV000440400
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)	SNV Germline/somatic	Chr4:1805761	Conflicting classifications of pathogenicity	Myeloproliferative disorder Condition: not provided not specified FGFR3-related disorder	Criteria Provided Conflicting Classifications	CA2810534	rs_199544087	5 SubmittersRCV000418578 RCV000733922 RCV001000850 RCV004530520
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	Criteria Provided Conflicting Classifications		rs_147828672	5 SubmittersRCV001003798 RCV001776076 RCV002249617 RCV002471010 RCV003448984
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