PDE11A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032299	NM_016953.4(PDE11A):c.2800T>C (p.Ter934Gln)	PDE11A	Single nucleotide variant (stop lost)	PDE11A-related disorder	GUncertain significance
Select item 1230360	NM_016953.4(PDE11A):c.2758TCC[3] (p.Ser921dup)	PDE11A	Microsatellite (inframe_insertion)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GBenign
Select item 2372614	NM_016953.4(PDE11A):c.2756C>T (p.Ser919Leu)	PDE11A (S475L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742026	NM_016953.4(PDE11A):c.2743G>C (p.Ala915Pro)	PDE11A (A665P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2552161	NM_016953.4(PDE11A):c.2725C>T (p.His909Tyr)	PDE11A (H465Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378453	NM_016953.4(PDE11A):c.2678C>T (p.Pro893Leu)	PDE11A (P449L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342528	NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln)	PDE11A (P449Q +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 1309086	NM_016953.4(PDE11A):c.2653G>A (p.Val885Met)	PDE11A (V441M +3 more)	Single nucleotide variant (missense variant)	PDE11A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 718046	NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr)	PDE11A (A439T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 741896	NM_016953.4(PDE11A):c.2640G>T (p.Leu880Phe)	PDE11A (L522F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 377121	NM_016953.4(PDE11A):c.2632A>G (p.Met878Val)	PDE11A (M628V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1028036	NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr)	PDE11A (I515T +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 2682614	NM_016953.4(PDE11A):c.2611G>C (p.Glu871Gln)	PDE11A (E427Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460027	NM_016953.4(PDE11A):c.2599C>T (p.Arg867Trp)	PDE11A (R423W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235464	NM_016953.4(PDE11A):c.2599C>G (p.Arg867Gly)	PDE11A (R423G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2360382	NM_016953.4(PDE11A):c.2576G>A (p.Arg859Gln)	PDE11A (R501Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326996	NM_016953.4(PDE11A):c.2563-26G>A	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 2254367	NM_016953.4(PDE11A):c.2531G>C (p.Arg844Pro)	PDE11A (R486P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547626	NM_016953.4(PDE11A):c.2513T>C (p.Phe838Ser)	PDE11A (F838S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326997	NM_016953.4(PDE11A):c.2488-29T>C	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 734357	NM_016953.4(PDE11A):c.2043+7G>A	PDE11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738406	NM_016953.4(PDE11A):c.2034G>A (p.Ala678=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043819	NM_016953.4(PDE11A):c.2032G>A (p.Ala678Thr)	PDE11A (A234T +3 more)	Single nucleotide variant (missense variant)	PDE11A-related disorder	GBenign
Select item 2289870	NM_016953.4(PDE11A):c.2005G>A (p.Ala669Thr)	PDE11A (A419T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794603	NM_016953.4(PDE11A):c.1986A>G (p.Leu662=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049003	NM_016953.4(PDE11A):c.1984C>G (p.Leu662Val)	PDE11A (L218V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3210616	NM_016953.4(PDE11A):c.1981G>T (p.Val661Phe)	PDE11A (V217F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709193	NM_016953.4(PDE11A):c.1977G>T (p.Arg659=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2356520	NM_016953.4(PDE11A):c.1976G>A (p.Arg659Gln)	PDE11A (R215Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801831	NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)	PDE11A (Y300C +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 1308402	NM_016953.4(PDE11A):c.1937del (p.Thr646fs)	PDE11A (T202fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 422034	NM_016953.4(PDE11A):c.1936-2A>T	PDE11A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1333997	NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs)	PDE11A (Q194fs +3 more)	Indel (frameshift variant)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 2485869	NM_016953.4(PDE11A):c.1894A>G (p.Met632Val)	PDE11A (M188V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507805	NM_016953.4(PDE11A):c.1870A>T (p.Ile624Phe)	PDE11A (I180F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622421	NM_016953.4(PDE11A):c.1867A>G (p.Met623Val)	PDE11A (M265V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402706	NM_016953.4(PDE11A):c.1858G>A (p.Val620Ile)	PDE11A (V262I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210615	NM_016953.4(PDE11A):c.1855G>A (p.Asp619Asn)	PDE11A (D261N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788478	NM_016953.4(PDE11A):c.1854C>T (p.Leu618=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790257	NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)	PDE11A (D251N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225433	NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)	PDE11A (S160* +3 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GPathogenic/Likely pathogenic
Select item 1333996	NM_016953.4(PDE11A):c.1774G>A (p.Val592Ile)	PDE11A (V148I +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 2352600	NM_016953.4(PDE11A):c.1757C>T (p.Thr586Ile)	PDE11A (T142I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725563	NM_016953.4(PDE11A):c.1743A>G (p.Leu581=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3058344	NM_016953.4(PDE11A):c.1738-10T>G	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GLikely benign
Select item 1326999	NM_016953.4(PDE11A):c.1737+22G>A	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 3058095	NM_016953.4(PDE11A):c.1716C>G (p.Ala572=)	PDE11A	Single nucleotide variant (synonymous variant)	PDE11A-related disorder	GLikely benign
Select item 2651570	NM_016953.4(PDE11A):c.1708T>C (p.Ser570Pro)	PDE11A (S126P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 725065	NM_016953.4(PDE11A):c.1660del (p.Cys554fs)	PDE11A (C304fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725066	NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr)	PDE11A (I194T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1327000	NM_016953.4(PDE11A):c.1626A>G (p.Ala542=)	PDE11A	Single nucleotide variant (synonymous variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 2239572	NM_016953.4(PDE11A):c.1625C>T (p.Ala542Val)	PDE11A (A292V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1324868	NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter)	PDE11A (Q171* +3 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 1327001	NM_016953.4(PDE11A):c.1577-3T>C	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 733623	NM_016953.4(PDE11A):c.1577-4A>G	PDE11A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327002	NM_016953.4(PDE11A):c.1576+26C>T	PDE11A	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GBenign
Select item 2234010	NM_016953.4(PDE11A):c.1559G>A (p.Ser520Asn)	PDE11A (S520N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1305183	NM_016953.4(PDE11A):c.1529G>C (p.Arg510Thr)	PDE11A (R152T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3210614	NM_016953.4(PDE11A):c.1487G>A (p.Arg496His)	PDE11A (R496H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732926	NM_016953.4(PDE11A):c.1485G>A (p.Pro495=)	PDE11A	Single nucleotide variant (synonymous variant)	PDE11A-related disorder +1 more	GBenign/Likely benign
Select item 1706307	NM_016953.4(PDE11A):c.1438G>C (p.Ala480Pro)	PDE11A (A122P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546882	NM_016953.4(PDE11A):c.1397A>G (p.Tyr466Cys)	PDE11A (Y216C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347089	NM_016953.4(PDE11A):c.1357G>C (p.Ala453Pro)	PDE11A (A203P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651571	NM_016953.4(PDE11A):c.1353T>C (p.Ala451=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2342433	NM_016953.4(PDE11A):c.1340C>G (p.Pro447Arg)	PDE11A (P197R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1213493	NM_016953.4(PDE11A):c.1332del (p.Met445fs)	PDE11A (M195fs +2 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 753377	NM_016953.4(PDE11A):c.1303-6C>T	PDE11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2388625	NM_016953.4(PDE11A):c.1298C>T (p.Ser433Leu)	PDE11A (S183L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369526	NM_016953.4(PDE11A):c.1288G>A (p.Asp430Asn)	PDE11A (D430N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1324867	NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs)	PDE11A (S174fs +2 more)	Deletion (frameshift variant)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 3060620	NM_016953.4(PDE11A):c.1263A>G (p.Glu421=)	PDE11A	Single nucleotide variant (synonymous variant)	PDE11A-related disorder	GBenign
Select item 451905	NM_016953.4(PDE11A):c.1237C>T (p.Arg413Trp)	PDE11A (R163W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651572	NM_016953.4(PDE11A):c.1170A>G (p.Leu390=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742399	NM_016953.4(PDE11A):c.1170A>T (p.Leu390=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728730	NM_016953.4(PDE11A):c.1161+9A>G	PDE11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2432520	NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)	PDE11A (Y133* +2 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GLikely pathogenic
Select item 452772	NM_016953.4(PDE11A):c.1072-2A>G	PDE11A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3060433	NM_016953.4(PDE11A):c.1072-3C>T	PDE11A	Single nucleotide variant (intron variant)	PDE11A-related disorder	GBenign
Select item 3210612	NM_016953.4(PDE11A):c.1049C>T (p.Pro350Leu)	PDE11A (P350L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225434	NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)	PDE11A (R79* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5286	NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)	PDE11A (R307* +1 more)	Single nucleotide variant (nonsense)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 2442457	NM_016953.4(PDE11A):c.914A>T (p.Asp305Val)	PDE11A (D305V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672114	NM_016953.4(PDE11A):c.912+2T>A	PDE11A	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3048858	NM_016953.4(PDE11A):c.893A>G (p.Asn298Ser)	PDE11A (N298S)	Single nucleotide variant (missense variant +1 more)	PDE11A-related disorder	GBenign
Select item 746374	NM_016953.4(PDE11A):c.870C>T (p.Val290=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	PDE11A-related disorder +1 more	GLikely benign
Select item 2576001	NM_016953.4(PDE11A):c.793_816del (p.Pro265_Thr272del)	PDE11A	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 714278	NM_016953.4(PDE11A):c.799C>T (p.Leu267=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1246954	NM_016953.4(PDE11A):c.792A>C (p.Thr264=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3210622	NM_016953.4(PDE11A):c.781C>T (p.His261Tyr)	PDE11A (H261Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634548	NM_016953.4(PDE11A):c.775G>A (p.Asp259Asn)	PDE11A (D259N)	Single nucleotide variant (missense variant +1 more)	PDE11A-related disorder	GUncertain significance
Select item 2294030	NM_016953.4(PDE11A):c.736G>A (p.Ala246Thr)	PDE11A (A246T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 742521	NM_016953.4(PDE11A):c.711C>T (p.Arg237=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708531	NM_016953.4(PDE11A):c.657C>T (p.Thr219=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3210621	NM_016953.4(PDE11A):c.656C>T (p.Thr219Ile)	PDE11A (T219I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210620	NM_016953.4(PDE11A):c.635T>C (p.Ile212Thr)	PDE11A (I212T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 761504	NM_016953.4(PDE11A):c.622T>C (p.Leu208=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713888	NM_016953.4(PDE11A):c.604C>T (p.Arg202Cys)	PDE11A (R202C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3048461	NM_016953.4(PDE11A):c.588G>T (p.Leu196=)	PDE11A	Single nucleotide variant (synonymous variant +1 more)	PDE11A-related disorder	GLikely benign
Select item 1268706	NM_016953.4(PDE11A):c.551G>A (p.Arg184Gln)	PDE11A (R184Q)	Single nucleotide variant (missense variant +1 more)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GBenign
Select item 373166	NM_016953.4(PDE11A):c.497C>T (p.Pro166Leu)	PDE11A (P166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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