"PreventionGenetics, part of Exact Sciences"[submitter] AND "ENTREP2"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735179	NM_138704.4(NSMCE3):c.572A>G (p.Asn191Ser)	ENTREP2, NSMCE3 (N191S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 739952	NM_138704.4(NSMCE3):c.285C>T (p.Phe95=)	NSMCE3, ENTREP2	Single nucleotide variant (synonymous variant +1 more)	NSMCE3-related disorder +1 more	GLikely benign
Select item 1146465	NM_138704.4(NSMCE3):c.228C>G (p.Ala76=)	ENTREP2, NSMCE3	Single nucleotide variant (synonymous variant +1 more)	NSMCE3-related disorder +1 more	GLikely benign
Select item 3006495	NM_138704.4(NSMCE3):c.189C>T (p.Pro63=)	NSMCE3, ENTREP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2342926	NM_138704.4(NSMCE3):c.42G>C (p.Gln14His)	ENTREP2, NSMCE3 (Q14H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2045081	NM_138704.4(NSMCE3):c.41A>C (p.Gln14Pro)	ENTREP2, NSMCE3 (Q14P)	Single nucleotide variant (missense variant +1 more)	NSMCE3-related disorder +2 more	GConflicting classifications of pathogenicity

ClinVar