"Illumina Laboratory Services, Illumina"[submitter] AND "PDE6A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 351936	NM_000440.3(PDE6A):c.*2889C>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351937	NM_000440.3(PDE6A):c.*2853C>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 351938	NM_000440.3(PDE6A):c.*2771G>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 351939	NM_000440.3(PDE6A):c.*2769A>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 904357	NM_000440.3(PDE6A):c.*2717G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351940	NM_000440.3(PDE6A):c.*2662A>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 351941	NM_000440.3(PDE6A):c.2637_2641del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351942	NM_000440.3(PDE6A):c.*2626C>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 904358	NM_000440.3(PDE6A):c.*2620C>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 904359	NM_000440.3(PDE6A):c.*2616G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 904360	NM_000440.3(PDE6A):c.*2615C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 904361	NM_000440.3(PDE6A):c.*2582T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351943	NM_000440.3(PDE6A):c.*2542G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 905159	NM_000440.3(PDE6A):c.*2525A>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 351944	NM_000440.3(PDE6A):c.*2461C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 905160	NM_000440.3(PDE6A):c.*2400G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 905161	NM_000440.3(PDE6A):c.*2383G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351945	NM_000440.3(PDE6A):c.*2336C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 351946	NM_000440.3(PDE6A):c.*2229C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 351947	NM_000440.3(PDE6A):c.*2194G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 906747	NM_000440.3(PDE6A):c.*2138G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351948	NM_000440.3(PDE6A):c.*2110A>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 351949	NM_000440.3(PDE6A):c.*2098CT[2]	PDE6A	Microsatellite (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351950	NM_000440.3(PDE6A):c.2079_2080del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351952	NM_000440.3(PDE6A):c.2077_2078dup	PDE6A	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351951	NM_000440.3(PDE6A):c.*2079del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 906748	NM_000440.3(PDE6A):c.*2068G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351953	NM_000440.3(PDE6A):c.*2068del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 906749	NM_000440.3(PDE6A):c.*2029G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351954	NM_000440.3(PDE6A):c.*2009T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 351955	NM_000440.3(PDE6A):c.*1967C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907748	NM_000440.3(PDE6A):c.*1867A>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907749	NM_000440.3(PDE6A):c.*1780C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351956	NM_000440.3(PDE6A):c.*1762A>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351957	NM_000440.3(PDE6A):c.*1720T>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 907750	NM_000440.3(PDE6A):c.*1703A>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351958	NM_000440.3(PDE6A):c.*1695G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907751	NM_000440.3(PDE6A):c.*1693A>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351959	NM_000440.3(PDE6A):c.*1676T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351960	NM_000440.3(PDE6A):c.*1515G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351961	NM_000440.3(PDE6A):c.*1389T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351962	NM_000440.3(PDE6A):c.*1365G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 904420	NM_000440.3(PDE6A):c.*1359G>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 904421	NM_000440.3(PDE6A):c.*1339T>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351963	NM_000440.3(PDE6A):c.*1335C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351964	NM_000440.3(PDE6A):c.*1315G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351965	NM_000440.3(PDE6A):c.*1304G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 905220	NM_000440.3(PDE6A):c.*1251C>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351966	NM_000440.3(PDE6A):c.*1057C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 905221	NM_000440.3(PDE6A):c.*956G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 905222	NM_000440.3(PDE6A):c.*955C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351967	NM_000440.3(PDE6A):c.*951C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351968	NM_000440.3(PDE6A):c.*938A>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 905223	NM_000440.3(PDE6A):c.*932T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351969	NM_000440.3(PDE6A):c.*828dup	PDE6A	Duplication (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 906810	NM_000440.3(PDE6A):c.*814T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351970	NM_000440.3(PDE6A):c.*796A>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 351971	NM_000440.3(PDE6A):c.*756T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 906811	NM_000440.3(PDE6A):c.*714G>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 906812	NM_000440.3(PDE6A):c.*704G>A	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351972	NM_000440.3(PDE6A):c.*608T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 351973	NM_000440.3(PDE6A):c.*599C>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907803	NM_000440.3(PDE6A):c.*522T>G	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351974	NM_000440.3(PDE6A):c.*257del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351975	NM_000440.3(PDE6A):c.*241dup	PDE6A	Duplication (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 351976	NM_000440.3(PDE6A):c.*241del	PDE6A	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 351977	NM_000440.3(PDE6A):c.*178T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907804	NM_000440.3(PDE6A):c.*169T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 351978	NM_000440.3(PDE6A):c.*126T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907805	NM_000440.3(PDE6A):c.*51A>T	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 907806	NM_000440.3(PDE6A):c.*38T>C	PDE6A	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 351979	NM_000440.3(PDE6A):c.2568C>T (p.Ser856=)	PDE6A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 351980	NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)	PDE6A (G850V)	Single nucleotide variant (missense variant)	PDE6A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 734314	NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)	PDE6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904485	NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr)	PDE6A (A838T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 904486	NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu)	PDE6A (S832L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 351981	NM_000440.3(PDE6A):c.2424G>A (p.Glu808=)	PDE6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 904487	NM_000440.3(PDE6A):c.2417G>A (p.Arg806His)	PDE6A (R806H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 138636	NM_000440.3(PDE6A):c.2400C>T (p.Asp800=)	PDE6A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign
Select item 905268	NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile)	PDE6A (V784I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138635	NM_000440.3(PDE6A):c.2337T>C (p.Phe779=)	PDE6A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 905269	NM_000440.3(PDE6A):c.2322C>T (p.Val774=)	PDE6A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 631962	NM_000440.3(PDE6A):c.2275-1G>A	PDE6A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905270	NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met)	PDE6A (T751M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 737024	NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)	PDE6A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 351982	NM_000440.3(PDE6A):c.2135+15G>C	PDE6A	Single nucleotide variant (intron variant)	Retinitis pigmentosa	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 236449	NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp)	PDE6A (R707W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 422419	NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)	PDE6A (M680V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906869	NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)	PDE6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906870	NM_000440.3(PDE6A):c.1965T>C (p.His655=)	PDE6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93010	NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)	PDE6A (H655Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 351983	NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)	PDE6A (R652C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 351984	NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)	PDE6A (N651S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 351985	NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)	PDE6A (I646V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 855484	NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe)	PDE6A (S625F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 907855	NM_000440.3(PDE6A):c.1824C>G (p.Asn608Lys)	PDE6A (N608K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138634	NM_000440.3(PDE6A):c.1791C>T (p.Phe597=)	PDE6A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 907856	NM_000440.3(PDE6A):c.1776G>A (p.Met592Ile)	PDE6A (M592I)	Single nucleotide variant (missense variant)	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)	not provided +2 more	GUncertain significance

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