C0008525[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726706	NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)	CHM (C362* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GLikely pathogenic
Select item 1725706	NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)	CHM (G248* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GLikely pathogenic
Select item 1725728	NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)	CHM (Y173* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GLikely pathogenic
Select item 1725523	NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)	CHM (Y43*)	Single nucleotide variant (nonsense +1 more)	Choroideremia	GLikely pathogenic
Select item 1724007	NM_000390.4(CHM):c.82_83del (p.Ser28fs)	CHM (S28fs)	Deletion (frameshift variant +1 more)	Choroideremia	GLikely pathogenic
Select item 1726566	NM_000390.4(CHM):c.73_74insTATAAGAGACAGT (p.Ala25delinsValTer)	CHM	Insertion (nonsense +1 more)	Choroideremia	GLikely pathogenic
Select item 1725429	NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)	CHM (A24fs)	Insertion (frameshift variant +1 more)	Choroideremia	GLikely pathogenic

ClinVar