"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PDE6A"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 836138	NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs)	PDE6A (G850fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 846166	NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr)	PDE6A (M715T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866350	NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile)	PDE6A (V711I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43 +2 more	GUncertain significance
Select item 840322	NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys)	PDE6A (E709K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 866352	NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	PDE6A (H563Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1297096	NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)	PDE6A (R562W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 13112	NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	PDE6A (W561*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GLikely pathogenic
Select item 866022	NM_000440.3(PDE6A):c.1407+1G>C	PDE6A	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 865804	NM_000440.3(PDE6A):c.999-2A>G	PDE6A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 43 +2 more	GLikely pathogenic
Select item 285044	NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)	PDE6A (A262T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 236450	NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)	PDE6A (D123Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance