"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 871858	NM_000390.4(CHM):c.1644G>A (p.Trp548Ter)	CHM (W400* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1275780	NM_000390.4(CHM):c.1370T>C (p.Leu457Pro)	CHM (L309P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 986885	NM_000390.4(CHM):c.941-1G>T	CHM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 143078	NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	CHM (R270* +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)	Choroideremia +1 more	GPathogenic
Select item 1338868	NM_000390.4(CHM):c.703dup (p.Leu235fs)	CHM (L235fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 279773	NM_000390.4(CHM):c.525_526del (p.Glu177fs)	CHM (E29fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 987338	NM_000390.4(CHM):c.315-4587T>A	CHM	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 987283	NM_000390.4(CHM):c.262_263dup (p.Ser89fs)	CHM (S89fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 189189	NM_000390.4(CHM):c.116+1G>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic