"PDE6B-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1105288	NM_000283.4(PDE6B):c.48C>T (p.Pro16=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193073	NM_000283.4(PDE6B):c.299G>A (p.Arg100His)	PDE6B (R100H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 1550047	NM_000283.4(PDE6B):c.345G>A (p.Pro115=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1135460	NM_000283.4(PDE6B):c.459C>T (p.Asp153=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 738680	NM_000283.4(PDE6B):c.726G>A (p.Ser242=)	PDE6B, PDE6B-AS1	Single nucleotide variant (synonymous variant +1 more)	PDE6B-related disorder +2 more	GBenign/Likely benign
Select item 1561698	NM_000283.4(PDE6B):c.759C>T (p.Ile253=)	PDE6B-AS1, PDE6B	Single nucleotide variant (synonymous variant +1 more)	PDE6B-related disorder +1 more	GLikely benign
Select item 3035006	NM_000283.4(PDE6B):c.1107+6T>C	PDE6B	Single nucleotide variant (intron variant)	PDE6B-related disorder	GLikely benign
Select item 721487	NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)	PDE6B (R472C +2 more)	Single nucleotide variant (missense variant)	PDE6B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 811833	NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)	PDE6B (F114L +2 more)	Single nucleotide variant (missense variant)	PDE6B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 92766	NM_000283.4(PDE6B):c.1540del (p.Leu514fs)	PDE6B (L129fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1089667	NM_000283.4(PDE6B):c.1704G>A (p.Thr568=)	PDE6B	Single nucleotide variant (synonymous variant)	PDE6B-related disorder +1 more	GLikely benign
Select item 1541663	NM_000283.4(PDE6B):c.1725C>T (p.Thr575=)	PDE6B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1091901	NM_000283.4(PDE6B):c.1827G>A (p.Gln609=)	PDE6B	Single nucleotide variant (synonymous variant)	PDE6B-related disorder +1 more	GLikely benign
Select item 167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 716106	NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys)	PDE6B (E512K +2 more)	Single nucleotide variant (missense variant)	PDE6B-related disorder +3 more	GConflicting classifications of pathogenicity