"OMIM"[submitter] AND "CHM"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56224	NM_000390.4(CHM):c.1609+2dup	CHM	Duplication (splice donor variant)	Choroideremia, Salla type +1 more	GPathogenic
Select item 11152	NM_000390.4(CHM):c.1584_1587del (p.Val529fs)	CHM (V529fs +1 more)	Microsatellite (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 39809	NM_000390.4(CHM):c.1520A>G (p.His507Arg)	CHM (H507R +1 more)	Single nucleotide variant (missense variant)	Choroideremia	GPathogenic
Select item 11153	NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)	CHM (C499* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 11149	NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)	CHM (S495* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 11150	NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)	CHM (E491* +1 more)	Single nucleotide variant (nonsense)	Choroideremia	GPathogenic
Select item 866059	NM_000390.4(CHM):c.1446del (p.Gly483fs)	CHM (G483fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 11148	NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)	CHM (S305* +1 more)	Indel (nonsense)	Choroideremia	GPathogenic
Select item 11154	NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	CHM (R293* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 11156	NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT	CHM	Insertion	Choroideremia	GPathogenic