"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438191	NM_000283.4(PDE6B):c.1A>G (p.Met1Val)	PDE6B (M1V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 349362	NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)	PDE6B, PDE6B-AS1 (F247I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 40 +3 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)	Retinitis pigmentosa +3 more	GPathogenic
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 438189	NM_000283.4(PDE6B):c.1485dup (p.Pro496fs)	PDE6B (P111fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 438190	NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro)	PDE6B (L516P +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 378339	NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)	PDE6B (L527P +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 40 +3 more	GConflicting classifications of pathogenicity
Select item 217798	NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)	PDE6B (R560C +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 224742	NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	PDE6B (N364fs +2 more)	Indel (frameshift variant)	Retinitis pigmentosa 40 +2 more	GPathogenic/Likely pathogenic
Select item 167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +5 more	GPathogenic