ClinVar for MedGen (Select 462489) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578335	NM_000440.3(PDE6A):c.127G>A (p.Ala43Thr)	PDE6A (A43T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43	GUncertain significance
Select item 2445600	NM_000440.3(PDE6A):c.1054del (p.Gln352fs)	PDE6A (Q271fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 43	GPathogenic
Select item 1686015	NM_000440.3(PDE6A):c.1838+1G>A	PDE6A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 43	GPathogenic
Select item 1419945	NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)	PDE6A (W429*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1327003	NM_000440.3(PDE6A):c.934-27_934-26del	PDE6A	Deletion (intron variant)	Retinitis pigmentosa 43	GBenign
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 1253679	NM_000440.3(PDE6A):c.1408-34A>G	PDE6A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213875	NM_000440.3(PDE6A):c.2135+5G>A	PDE6A	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1213874	NM_000440.3(PDE6A):c.2135+1G>T	PDE6A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1213873	NM_000440.3(PDE6A):c.2317C>T (p.Gln773Ter)	PDE6A (Q773*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GPathogenic
Select item 1213872	NM_000440.3(PDE6A):c.1560dup (p.Cys521fs)	PDE6A (C521fs)	Duplication (frameshift variant)	Retinitis pigmentosa 43	GPathogenic
Select item 1213871	NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter)	PDE6A (E373*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1065769	NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter)	PDE6A (Q69*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GPathogenic
Select item 1065736	NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)	PDE6A (G568R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 961613	NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)	PDE6A (R562Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930770	NM_000440.3(PDE6A):c.2027+2T>G	PDE6A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 43	GPathogenic
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 866352	NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	PDE6A (H563Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43 +2 more	GUncertain significance
Select item 866350	NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile)	PDE6A (V711I)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 866022	NM_000440.3(PDE6A):c.1407+1G>C	PDE6A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865985	NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)	PDE6A (E768*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865804	NM_000440.3(PDE6A):c.999-2A>G	PDE6A	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 855351	NM_000440.3(PDE6A):c.998+1G>A	PDE6A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GPathogenic
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 840322	NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys)	PDE6A (E709K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43 +2 more	GUncertain significance
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 817435	NM_000440.3(PDE6A):c.1097del (p.Asp366fs)	PDE6A (D366fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 813060	NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	PDE6A (E794del)	Microsatellite (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 812368	NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)	PDE6A (Q654*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GPathogenic
Select item 812056	NM_000440.3(PDE6A):c.2369G>A (p.Arg790His)	PDE6A (R790H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811895	NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His)	PDE6A (Y700H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43	GUncertain significance
Select item 811606	NM_000440.3(PDE6A):c.1927-21C>G	PDE6A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 43	GBenign
Select item 440030	NM_000440.3(PDE6A):c.1171G>A (p.Val391Met)	PDE6A (V391M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 425359	NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	PDE6A (I659fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 352008	NM_000440.3(PDE6A):c.84C>T (p.Tyr28=)	PDE6A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 43 +2 more	GBenign/Likely benign
Select item 352006	NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)	PDE6A (D92N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 352005	NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)	PDE6A (R100Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43 +3 more	GConflicting classifications of pathogenicity
Select item 351999	NM_000440.3(PDE6A):c.498G>A (p.Val166=)	PDE6A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 43 +2 more	GConflicting classifications of pathogenicity
Select item 285044	NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)	PDE6A (A262T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43 +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
Select item 225119	NM_000440.3(PDE6A):c.1408-2A>G	PDE6A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 43	GPathogenic
Select item 195462	NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	PDE6A (D778fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 194473	NM_000440.3(PDE6A):c.1926+1G>A	PDE6A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 193099	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	PDE6A (R102S)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 167431	NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	PDE6A (Q569K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 138633	NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)	PDE6A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 100556	NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)	PDE6A (L516V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93010	NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)	PDE6A (H655Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 13112	NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	PDE6A (W561*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 43	GLikely pathogenic
Select item 13111	NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg)	PDE6A (S344R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 43	GPathogenic
Select item 13110	NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)	PDE6A (Y583*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic

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Items: 53