C0008525[trait identifier] AND "Bioscientia Institut fuer Medizinische - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635551	NM_000390.4(CHM):c.660del (p.Ile221fs)	CHM (I73fs +1 more)	Deletion (frameshift variant)	Choroideremia	GPathogenic
Select item 369952	NM_000390.4(CHM):c.189+5A>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 635534	NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	CHM (E8*)	Single nucleotide variant (nonsense)	Choroideremia +1 more	GPathogenic

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