C0008525[trait identifier] AND "Sharon lab, Hadassah-Hebrew University - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812267	NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)	CHM (Y290* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 11154	NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	CHM (R293* +1 more)	Single nucleotide variant (nonsense)	Choroideremia +1 more	GPathogenic
Select item 812268	NM_000390.4(CHM):c.819+1G>C	CHM	Single nucleotide variant (splice donor variant)	Choroideremia	GPathogenic
Select item 279775	NM_000390.4(CHM):c.799C>T (p.Arg267Ter)	CHM (R267* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 285756	NM_000390.4(CHM):c.715C>T (p.Arg239Ter)	CHM (R239* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 812269	NM_000390.4(CHM):c.564_565del (p.Pro189fs)	CHM (P41fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812270	NM_000390.2:c.315_702del	CHM	Deletion	Choroideremia	GPathogenic

ClinVar