ADCY9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	ADCY9, CREBBP +35 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	ADCY9, CORO7 +40 more	Deletion	See cases	GPathogenic
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	ADCY9, C16orf96 +49 more	Copy number loss	See cases	GPathogenic
Select item 2556995	NM_001116.4(ADCY9):c.3962G>A (p.Arg1321Lys)	ADCY9 (R1321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082554	NM_001116.4(ADCY9):c.3936G>T (p.Trp1312Cys)	ADCY9 (W1312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314288	NM_001116.4(ADCY9):c.3929G>T (p.Arg1310Ile)	ADCY9 (R1310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082546	NM_001116.4(ADCY9):c.3844G>A (p.Val1282Met)	ADCY9 (V1282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604955	NM_001116.4(ADCY9):c.3800A>G (p.Asp1267Gly)	ADCY9 (D1267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376694	NM_001116.4(ADCY9):c.3788G>A (p.Arg1263His)	ADCY9 (R1263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221833	NM_001116.4(ADCY9):c.3709A>G (p.Met1237Val)	ADCY9 (M1237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082538	NM_001116.4(ADCY9):c.3604G>A (p.Val1202Met)	ADCY9 (V1202M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750378	NM_001116.4(ADCY9):c.3522C>T (p.Ala1174=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646144	NM_001116.4(ADCY9):c.3493G>A (p.Val1165Ile)	ADCY9 (V1165I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768749	NM_001116.4(ADCY9):c.3483C>T (p.Phe1161=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082524	NM_001116.4(ADCY9):c.3437T>C (p.Met1146Thr)	ADCY9 (M1146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206408	NM_001116.4(ADCY9):c.3395A>G (p.Gln1132Arg)	ADCY9 (Q1132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618741	NM_001116.4(ADCY9):c.3382G>A (p.Gly1128Ser)	ADCY9 (G1128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785521	NM_001116.4(ADCY9):c.3330C>T (p.Ile1110=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276542	NM_001116.4(ADCY9):c.3282G>C (p.Glu1094Asp)	ADCY9 (E1094D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618740	NM_001116.4(ADCY9):c.3163G>T (p.Asp1055Tyr)	ADCY9 (D1055Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983122	NM_001116.4(ADCY9):c.3098G>C (p.Arg1033Thr)	ADCY9 (R1033T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3269786	NM_001116.4(ADCY9):c.3025C>G (p.His1009Asp)	ADCY9 (H1009D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769893	NM_001116.4(ADCY9):c.2994C>T (p.Arg998=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 794583	NM_001116.4(ADCY9):c.2964C>A (p.Leu988=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530341	NM_001116.4(ADCY9):c.2905C>T (p.Arg969Cys)	ADCY9 (R969C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646145	NM_001116.4(ADCY9):c.2898G>C (p.Ser966=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082478	NM_001116.4(ADCY9):c.2884C>A (p.Pro962Thr)	ADCY9 (P962T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082469	NM_001116.4(ADCY9):c.2857G>C (p.Val953Leu)	ADCY9 (V953L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289741	NM_001116.4(ADCY9):c.2845C>G (p.Pro949Ala)	ADCY9 (P949A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782311	NM_001116.4(ADCY9):c.2828+4C>G	ADCY9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2474480	NM_001116.4(ADCY9):c.2821C>G (p.Pro941Ala)	ADCY9 (P941A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351041	NM_001116.4(ADCY9):c.2816T>C (p.Leu939Pro)	ADCY9 (L939P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768750	NM_001116.4(ADCY9):c.2775C>T (p.Thr925=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2490752	NM_001116.4(ADCY9):c.2741A>C (p.Gln914Pro)	ADCY9 (Q914P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390084	NM_001116.4(ADCY9):c.2716G>A (p.Val906Ile)	ADCY9 (V906I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710082	NM_001116.4(ADCY9):c.2715C>T (p.Ala905=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2614659	NM_001116.4(ADCY9):c.2705C>T (p.Ala902Val)	ADCY9 (A902V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 738863	NM_001116.4(ADCY9):c.2700G>A (p.Ser900=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269838	NM_001116.4(ADCY9):c.2692A>G (p.Thr898Ala)	ADCY9 (T898A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082449	NM_001116.4(ADCY9):c.2671A>G (p.Asn891Asp)	ADCY9 (N891D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731638	NM_001116.4(ADCY9):c.2632C>T (p.Leu878=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219467	NM_001116.4(ADCY9):c.2629G>A (p.Ala877Thr)	ADCY9 (A877T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259708	NM_001116.4(ADCY9):c.2611A>C (p.Ile871Leu)	ADCY9 (I871L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269818	NM_001116.4(ADCY9):c.2605G>A (p.Gly869Arg)	ADCY9 (G869R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726002	NM_001116.4(ADCY9):c.2520-5C>T	ADCY9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717749	NM_001116.4(ADCY9):c.2519+10G>A	ADCY9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3082437	NM_001116.4(ADCY9):c.2503C>T (p.Leu835Phe)	ADCY9 (L835F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392413	NM_001116.4(ADCY9):c.2437A>G (p.Thr813Ala)	ADCY9 (T813A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299392	NM_001116.4(ADCY9):c.2288A>G (p.Tyr763Cys)	ADCY9 (Y763C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082428	NM_001116.4(ADCY9):c.2242A>G (p.Asn748Asp)	ADCY9 (N748D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290514	NM_001116.4(ADCY9):c.2143C>G (p.Leu715Val)	ADCY9 (L715V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082420	NM_001116.4(ADCY9):c.2059A>C (p.Asn687His)	ADCY9 (N687H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377831	NM_001116.4(ADCY9):c.2023G>A (p.Gly675Arg)	ADCY9 (G675R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788452	NM_001116.4(ADCY9):c.1981A>G (p.Ser661Gly)	ADCY9 (S661G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2217968	NM_001116.4(ADCY9):c.1930G>A (p.Gly644Ser)	ADCY9 (G644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509858	NM_001116.4(ADCY9):c.1900G>A (p.Gly634Arg)	ADCY9 (G634R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491094	NM_001116.4(ADCY9):c.1852G>A (p.Ala618Thr)	ADCY9 (A618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269797	NM_001116.4(ADCY9):c.1814G>A (p.Gly605Glu)	ADCY9 (G605E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602851	NM_001116.4(ADCY9):c.1787G>A (p.Gly596Asp)	ADCY9 (G596D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258602	NM_001116.4(ADCY9):c.1763T>C (p.Leu588Pro)	ADCY9 (L588P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731384	NM_001116.4(ADCY9):c.1738C>T (p.Arg580Cys)	ADCY9 (R580C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2371738	NM_001116.4(ADCY9):c.1736C>T (p.Ser579Phe)	ADCY9 (S579F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788678	NM_001116.4(ADCY9):c.1690A>C (p.Lys564Gln)	ADCY9 (K564Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741464	NM_001116.4(ADCY9):c.1665C>A (p.Gly555=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082400	NM_001116.4(ADCY9):c.1624C>T (p.Arg542Trp)	ADCY9 (R542W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230626	NM_001116.4(ADCY9):c.1613A>G (p.Tyr538Cys)	ADCY9 (Y538C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082392	NM_001116.4(ADCY9):c.1609A>G (p.Lys537Glu)	ADCY9 (K537E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646146	NM_001116.4(ADCY9):c.1578C>T (p.Ala526=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082390	NM_001116.4(ADCY9):c.1422G>T (p.Glu474Asp)	ADCY9 (E474D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321971	NM_001116.4(ADCY9):c.1417A>G (p.Ile473Val)	ADCY9 (I473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269807	NM_001116.4(ADCY9):c.1261G>C (p.Asp421His)	ADCY9 (D421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301594	NM_001116.4(ADCY9):c.1214A>G (p.Lys405Arg)	ADCY9 (K405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552295	NM_001116.4(ADCY9):c.1097C>G (p.Pro366Arg)	ADCY9 (P366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272360	NM_001116.4(ADCY9):c.1019G>T (p.Arg340Ile)	ADCY9 (R340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245601	NM_001116.4(ADCY9):c.996G>T (p.Arg332Ser)	ADCY9 (R332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295715	NM_001116.4(ADCY9):c.935A>G (p.Lys312Arg)	ADCY9 (K312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279191	NM_001116.4(ADCY9):c.860T>C (p.Leu287Pro)	ADCY9 (L287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269776	NM_001116.4(ADCY9):c.818G>A (p.Gly273Glu)	ADCY9 (G273E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729691	NM_001116.4(ADCY9):c.813G>A (p.Ser271=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2249242	NM_001116.4(ADCY9):c.716A>C (p.His239Pro)	ADCY9 (H239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723902	NM_001116.4(ADCY9):c.708C>T (p.Thr236=)	ADCY9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282614	NM_001116.4(ADCY9):c.700C>T (p.Leu234Phe)	ADCY9 (L234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512192	NM_001116.4(ADCY9):c.688G>A (p.Val230Met)	ADCY9 (V230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296469	NM_001116.4(ADCY9):c.656C>T (p.Ser219Phe)	ADCY9 (S219F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387117	NM_001116.4(ADCY9):c.643G>T (p.Asp215Tyr)	ADCY9 (D215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269758	NM_001116.4(ADCY9):c.589C>G (p.Pro197Ala)	ADCY9 (P197A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082564	NM_001116.4(ADCY9):c.578A>G (p.Gln193Arg)	ADCY9 (Q193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239787	NM_001116.4(ADCY9):c.524C>T (p.Thr175Ile)	ADCY9 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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