PDE11A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
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 3305340	NM_016953.4(PDE11A):c.2744C>T (p.Ala915Val)	PDE11A (A557V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3305341	NM_016953.4(PDE11A):c.2689T>G (p.Ser897Ala)	PDE11A (S453A +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)	not provided	GUncertain significance
Select item 718046	NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr)	PDE11A (A439T +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GLikely 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 3305339	NM_016953.4(PDE11A):c.2580C>A (p.Asn860Lys)	PDE11A (N416K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not provided +1 more	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)	not provided +1 more	GBenign
Select item 749915	NM_016953.4(PDE11A):c.2469G>A (p.Pro823=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817261	NM_016953.4(PDE11A):c.2466dup (p.Pro823fs)	PDE11A, PDE11A-AS1 (P465fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2502294	NM_016953.4(PDE11A):c.2436G>A (p.Met812Ile)	PDE11A, PDE11A-AS1 (M368I +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 799365	NM_016953.4(PDE11A):c.2424-1G>C	PDE11A, PDE11A-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 1326998	NM_016953.4(PDE11A):c.2424-47T>C	PDE11A, PDE11A-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2434620	NM_016953.4(PDE11A):c.2422C>T (p.Arg808Ter)	PDE11A, PDE11A-AS1 (R364* +3 more)	Single nucleotide variant (nonsense)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 787776	NM_016953.4(PDE11A):c.2388C>T (p.Tyr796=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499345	NM_016953.4(PDE11A):c.2363T>C (p.Phe788Ser)	PDE11A, PDE11A-AS1 (F344S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2403800	NM_016953.4(PDE11A):c.2354C>T (p.Thr785Ile)	PDE11A, PDE11A-AS1 (T427I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155581	GRCh38/hg38 2q31.2(chr2:177685412-177712027)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GLikely benign
Select item 155332	GRCh38/hg38 2q31.2(chr2:177685412-177712274)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GUncertain significance
Select item 155331	GRCh38/hg38 2q31.2(chr2:177685412-177720934)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GUncertain significance
Select item 151488	GRCh38/hg38 2q31.2(chr2:177685412-177711841)x3	PDE11A, PDE11A-AS1	Copy number gain	See cases	GUncertain significance
Select item 3350294	NM_016953.4(PDE11A):c.2340C>G (p.Tyr780Ter)	PDE11A, PDE11A-AS1 (Y422* +3 more)	Single nucleotide variant (nonsense)	PDE11A-related disorder	GUncertain significance
Select item 1333999	NM_016953.4(PDE11A):c.2336T>C (p.Leu779Pro)	PDE11A, PDE11A-AS1 (L335P +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 709623	NM_016953.4(PDE11A):c.2334G>A (p.Thr778=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271596	NM_016953.4(PDE11A):c.2333C>T (p.Thr778Met)	PDE11A, PDE11A-AS1 (T334M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364234	NM_016953.4(PDE11A):c.2328C>A (p.Asp776Glu)	PDE11A, PDE11A-AS1 (D332E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286529	NM_016953.4(PDE11A):c.2308C>T (p.Gln770Ter)	PDE11A, PDE11A-AS1 (Q520* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1333998	NM_016953.4(PDE11A):c.2290C>T (p.Leu764Phe)	PDE11A, PDE11A-AS1 (L320F +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
Select item 225431	NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)	PDE11A, PDE11A-AS1 (S313fs +3 more)	Deletion (frameshift variant)	Pigmented nodular adrenocortical disease, primary, 2	GPathogenic/Likely pathogenic
Select item 726177	NM_016953.4(PDE11A):c.2266C>T (p.Leu756=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068196	NM_016953.4(PDE11A):c.2245-14C>T	PDE11A, PDE11A-AS1	Single nucleotide variant (intron variant)	Pigmented nodular adrenocortical disease, primary, 2	GLikely benign
Select item 1339695	NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)	PDE11A, PDE11A-AS1 (I300S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750685	NM_016953.4(PDE11A):c.2223C>A (p.Ala741=)	PDE11A, PDE11A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2651569	NM_016953.4(PDE11A):c.2221G>A (p.Ala741Thr)	PDE11A, PDE11A-AS1 (A297T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3052905	NM_016953.4(PDE11A):c.2208C>T (p.His736=)	PDE11A, PDE11A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PDE11A-related disorder	GLikely benign
Select item 449079	NM_016953.4(PDE11A):c.2153+1G>A	PDE11A, PDE11A-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 783991	NM_016953.4(PDE11A):c.2145C>T (p.Phe715=)	PDE11A, PDE11A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2299105	NM_016953.4(PDE11A):c.2101T>C (p.Cys701Arg)	PDE11A, PDE11A-AS1 (C451R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243285	NM_016953.4(PDE11A):c.2096T>C (p.Val699Ala)	PDE11A, PDE11A-AS1 (V341A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049041	NM_016953.4(PDE11A):c.2096T>A (p.Val699Glu)	PDE11A, PDE11A-AS1 (V255E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3210617	NM_016953.4(PDE11A):c.2086G>A (p.Ala696Thr)	PDE11A, PDE11A-AS1 (A252T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041000	NM_016953.4(PDE11A):c.2071G>A (p.Glu691Lys)	PDE11A, PDE11A-AS1 (E247K +3 more)	Single nucleotide variant (missense variant)	PDE11A-related disorder	GLikely benign
Select item 2434619	NM_016953.4(PDE11A):c.2044A>G (p.Thr682Ala)	PDE11A, PDE11A-AS1 (T238A +3 more)	Single nucleotide variant (missense variant)	Pigmented nodular adrenocortical disease, primary, 2	GUncertain significance
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)	not provided +1 more	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	GBenign
Select item 3305343	NM_016953.4(PDE11A):c.1825G>T (p.Asp609Tyr)	PDE11A (D165Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790257	NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)	PDE11A (D251N +3 more)	Single nucleotide variant (missense variant)	not provided	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	GLikely benign
Select item 1326999	NM_016953.4(PDE11A):c.1737+22G>A	PDE11A	Single nucleotide variant (intron variant)	not provided +1 more	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	GBenign
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)	Pigmented nodular adrenocortical disease, primary, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1327000	NM_016953.4(PDE11A):c.1626A>G (p.Ala542=)	PDE11A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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