"EMP2-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055582	NM_001424.6(EMP2):c.*9A>G	EMP2	Single nucleotide variant (3 prime UTR variant)	EMP2-related condition	GLikely benign
Select item 3060612	NM_001424.6(EMP2):c.459C>A (p.Thr153=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition	GLikely benign
Select item 3029451	NM_001424.6(EMP2):c.294C>A (p.Thr98=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition	GLikely benign
Select item 2177903	NM_001424.6(EMP2):c.285T>C (p.Phe95=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition +1 more	GLikely benign
Select item 3042834	NM_001424.6(EMP2):c.219T>C (p.Ile73=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition	GLikely benign
Select item 2202929	NM_001424.6(EMP2):c.138G>A (p.Thr46=)	EMP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2077004	NM_001424.6(EMP2):c.27C>T (p.Ile9=)	EMP2	Single nucleotide variant (synonymous variant)	EMP2-related condition +1 more	GBenign/Likely benign

ClinVar