"Clinical Genetics, Academic Medical Center"[submitter] AND "PDE6B"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 349292	NM_000283.4(PDE6B):c.270C>T (p.Asp90=)	PDE6B	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 2 +2 more	GConflicting classifications of pathogenicity
Select item 92768	NM_000283.4(PDE6B):c.615C>T (p.Asp205=)	PDE6B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 197127	NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)	PDE6B, PDE6B-AS1 (R265Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13103	NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	PDE6B, PDE6B-AS1 (Q298* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 197654	NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)	PDE6B, PDE6B-AS1 (G302D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 349371	NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)	PDE6B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 438188	NM_000283.4(PDE6B):c.1107+3A>G	PDE6B	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 871378	NM_000283.4(PDE6B):c.1920+2T>C	PDE6B	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Single nucleotide variant (splice donor variant)	PDE6B-related disorder +6 more	GPathogenic