"Blueprint Genetics"[submitter] AND "PDE6A"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866869	NM_000440.3(PDE6A):c.2506+7G>A	PDE6A	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866135	NM_000440.3(PDE6A):c.2493G>C (p.Gln831His)	PDE6A (Q831H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 865779	NM_000440.3(PDE6A):c.2359-17C>T	PDE6A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865985	NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)	PDE6A (E768*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43 +2 more	GPathogenic/Likely pathogenic
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 29874	NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)	PDE6A (V685M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 425359	NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	PDE6A (I659fs)	Duplication (frameshift variant)	Retinitis pigmentosa 43 +2 more	GPathogenic/Likely pathogenic
Select item 865958	NM_000440.3(PDE6A):c.1927-13T>G	PDE6A	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 865960	NM_000440.3(PDE6A):c.1926+6A>T	PDE6A	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866215	NM_000440.3(PDE6A):c.1836G>A (p.Met612Ile)	PDE6A (M612I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866590	NM_000440.3(PDE6A):c.1747_1752del (p.Tyr583_Phe584del)	PDE6A	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 351986	NM_000440.3(PDE6A):c.1745G>A (p.Arg582His)	PDE6A (R582H)	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 437982	NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	PDE6A (R544W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866351	NM_000440.3(PDE6A):c.1620+2T>A	PDE6A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636054	NM_000440.3(PDE6A):c.1620+1G>A	PDE6A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 842898	NM_000440.3(PDE6A):c.1534C>T (p.Pro512Ser)	PDE6A (P512S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
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 167433	NM_000440.3(PDE6A):c.1407G>C (p.Leu469Phe)	PDE6A (L469F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866165	NM_000440.3(PDE6A):c.1263+1G>T	PDE6A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866212	NM_000440.3(PDE6A):c.1216C>G (p.Arg406Gly)	PDE6A (R406G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866592	NM_000440.3(PDE6A):c.1114-9_1114-5del	PDE6A	Deletion (intron variant)	not provided +1 more	GUncertain significance
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 866823	NM_000440.3(PDE6A):c.858+5G>T	PDE6A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 866821	NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)	PDE6A (C272*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 437984	NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	PDE6A (R257*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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
Select item 193099	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	PDE6A (R102S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity

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Items: 28