"Illumina Laboratory Services, Illumina"[submitter] AND "PDE6B-AS1"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 349362	NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)	PDE6B, PDE6B-AS1 (F247I)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness autosomal dominant 2 +3 more	GConflicting classifications of pathogenicity
Select item 905966	NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)	PDE6B, PDE6B-AS1 (T263A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 349363	NM_000283.4(PDE6B):c.789G>A (p.Thr263=)	PDE6B, PDE6B-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 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 349364	NM_000283.4(PDE6B):c.852+12G>A	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 349365	NM_000283.4(PDE6B):c.853-9T>C	PDE6B, PDE6B-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 138639	NM_000283.4(PDE6B):c.873T>C (p.Ser291=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
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 138640	NM_000283.4(PDE6B):c.915G>A (p.Thr305=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 349366	NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)	PDE6B, PDE6B-AS1 (R309Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 349367	NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr)	PDE6B, PDE6B-AS1 (I311T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 349368	NM_000283.4(PDE6B):c.966C>T (p.His322=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 905523	NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)	PDE6B, PDE6B-AS1 (G323S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 905524	NM_000283.4(PDE6B):c.986T>C (p.Val329Ala)	PDE6B, PDE6B-AS1 (V329A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital stationary night blindness autosomal dominant 2 +1 more	GUncertain significance