"Blueprint Genetics"[submitter] AND "PDE6B-AS1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865778	NM_000283.4(PDE6B):c.774C>G (p.His258Gln)	PDE6B, PDE6B-AS1 (H258Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866493	NM_000283.4(PDE6B):c.804C>T (p.Leu268=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 856142	NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)	PDE6B, PDE6B-AS1 (C270*)	Single nucleotide variant (nonsense +1 more)	See cases +3 more	GPathogenic
Select item 497466	NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)	PDE6B, PDE6B-AS1 (E271K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 859226	NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly)	PDE6B, PDE6B-AS1 (E271G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 560482	NM_000283.4(PDE6B):c.837del (p.Asp279fs)	PDE6B, PDE6B-AS1 (D279fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 13103	NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	PDE6B, PDE6B-AS1 (Q298* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +3 more	GPathogenic
Select item 867185	NM_000283.4(PDE6B):c.992+1G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 40 +2 more	GPathogenic/Likely pathogenic