"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPO"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056168	NM_000799.4(EPO):c.-152_-131del	EPO	Deletion (5 prime UTR variant)	EPO-related disorder	GLikely benign
Select item 3043637	NM_000799.4(EPO):c.9G>A (p.Val3=)	EPO	Single nucleotide variant (synonymous variant)	EPO-related disorder	GLikely benign
Select item 739804	NM_000799.4(EPO):c.13+10C>T	EPO	Single nucleotide variant (intron variant)	EPO-related disorder +1 more	GBenign/Likely benign
Select item 2634757	NM_000799.4(EPO):c.19C>T (p.Pro7Ser)	EPO (P7S)	Single nucleotide variant (missense variant)	EPO-related disorder	GUncertain significance
Select item 715578	NM_000799.4(EPO):c.208G>A (p.Asp70Asn)	EPO (D70N)	Single nucleotide variant (missense variant)	EPO-related disorder +1 more	GLikely benign
Select item 3036860	NM_000799.4(EPO):c.348G>A (p.Glu116=)	EPO	Single nucleotide variant (synonymous variant)	EPO-related disorder	GLikely benign
Select item 3032156	NM_000799.4(EPO):c.439T>C (p.Ser147Pro)	EPO (S147P)	Single nucleotide variant (missense variant)	EPO-related disorder	GUncertain significance
Select item 3056668	NM_000799.4(EPO):c.*8del	EPO	Deletion (3 prime UTR variant)	EPO-related disorder	GLikely benign

ClinVar