C4551637[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related condition +8 more	GBenign/Likely benign
Select item 1265448	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	SH2B3 (W262R +1 more)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation +3 more	GBenign
Select item 268130	NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	EPOR (P488S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2921036	NM_000121.4(EPOR):c.957C>G (p.Pro319=)	EPOR	Single nucleotide variant (non-coding transcript variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign
Select item 2920904	NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)	EPOR (L167F)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GUncertain significance
Select item 328153	NM_000121.4(EPOR):c.215T>C (p.Val72Ala)	EPOR (V72A)	Single nucleotide variant (missense variant +1 more)	Primary familial polycythemia due to EPO receptor mutation	GLikely benign

ClinVar