ADCY6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2330246	NM_015270.5(ADCY6):c.3488A>T (p.Asn1163Ile)	ADCY6, SPMIP11 (N1110I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557709	NM_015270.5(ADCY6):c.3479A>G (p.Tyr1160Cys)	ADCY6, SPMIP11 (Y1107C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301057	NM_015270.5(ADCY6):c.3412G>A (p.Ala1138Thr)	ADCY6, SPMIP11 (A1085T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1289350	NM_015270.5(ADCY6):c.3382-99C>T	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 738786	NM_015270.5(ADCY6):c.3363G>A (p.Gly1121=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 189260	NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)	ADCY6, TEX49 (R1116C)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GPathogenic
Select item 788579	NM_015270.5(ADCY6):c.3291C>T (p.Ile1097=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270250	NM_015270.5(ADCY6):c.3256+67C>T	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2231436	NM_015270.5(ADCY6):c.3238A>T (p.Asn1080Tyr)	ADCY6, SPMIP11 (N1080Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 806878	NM_015270.5(ADCY6):c.3193C>T (p.Arg1065Trp)	ADCY6, SPMIP11 (R1065W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739860	NM_015270.5(ADCY6):c.3186C>T (p.Tyr1062=)	ADCY6, TEX49	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683196	NM_015270.5(ADCY6):c.3178G>C (p.Ala1060Pro)	ADCY6, SPMIP11 (A1007P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028990	NM_015270.5(ADCY6):c.3153G>A (p.Val1051=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 727707	NM_015270.5(ADCY6):c.3052-9G>A	ADCY6, TEX49	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283688	NM_015270.5(ADCY6):c.3052-72A>G	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271510	NM_015270.5(ADCY6):c.3051+88G>A	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 995840	NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys)	ADCY6 (E1003K)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GPathogenic
Select item 243078	NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)	ADCY6 (Y992C +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GConflicting classifications of pathogenicity
Select item 3082040	NM_015270.5(ADCY6):c.2923T>C (p.Cys975Arg)	ADCY6 (C975R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613971	NM_015270.5(ADCY6):c.2914T>A (p.Tyr972Asn)	ADCY6 (Y919N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395402	NM_015270.5(ADCY6):c.2897G>A (p.Arg966His)	ADCY6 (R913H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039504	NM_015270.5(ADCY6):c.2894G>A (p.Arg965His)	ADCY6 (R912H +1 more)	Single nucleotide variant (missense variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 2596134	NM_015270.5(ADCY6):c.2866G>A (p.Val956Met)	ADCY6 (V903M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1694071	NM_015270.5(ADCY6):c.2833C>G (p.Arg945Gly)	ADCY6 (R892G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034402	NM_015270.5(ADCY6):c.2793A>G (p.Thr931=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 2244423	NM_015270.5(ADCY6):c.2734C>T (p.His912Tyr)	ADCY6 (H912Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274850	NM_015270.5(ADCY6):c.2668G>A (p.Gly890Arg)	ADCY6 (G890R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473545	NM_015270.5(ADCY6):c.2634T>G (p.Asn878Lys)	ADCY6 (N825K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082019	NM_015270.5(ADCY6):c.2632A>G (p.Asn878Asp)	ADCY6 (N878D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1225290	NM_015270.5(ADCY6):c.2622-155C>A	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260554	NM_015270.5(ADCY6):c.2621+109A>T	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242705	NM_015270.5(ADCY6):c.2621+50T>G	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266092	NM_015270.5(ADCY6):c.2442+40G>T	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3082016	NM_015270.5(ADCY6):c.2417C>T (p.Thr806Ile)	ADCY6 (T806I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2619860	NM_015270.5(ADCY6):c.2323C>T (p.Arg775Trp)	ADCY6 (R775W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1294129	NM_015270.5(ADCY6):c.2283+57C>G	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717946	NM_015270.5(ADCY6):c.2247C>T (p.Ser749=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082012	NM_015270.5(ADCY6):c.2197C>T (p.Arg733Cys)	ADCY6 (R733C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267801	NM_015270.5(ADCY6):c.2188C>T (p.Arg730Cys)	ADCY6 (R730C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791552	NM_015270.5(ADCY6):c.2029C>A (p.Leu677Met)	ADCY6 (L677M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2326870	NM_015270.5(ADCY6):c.2027C>T (p.Ala676Val)	ADCY6 (A676V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404593	NM_015270.5(ADCY6):c.2026G>A (p.Ala676Thr)	ADCY6 (A676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055951	NM_015270.5(ADCY6):c.2020G>T (p.Ala674Ser)	ADCY6 (A674S)	Single nucleotide variant (missense variant +1 more)	ADCY6-related disorder	GBenign
Select item 1694072	NM_015270.5(ADCY6):c.1999C>A (p.Pro667Thr)	ADCY6 (P667T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226054	NM_015270.5(ADCY6):c.1981-11C>G	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2382104	NM_015270.5(ADCY6):c.1937G>A (p.Arg646His)	ADCY6 (R646H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739427	NM_015270.5(ADCY6):c.1935G>A (p.Val645=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542207	NM_015270.5(ADCY6):c.1917G>T (p.Gln639His)	ADCY6 (Q639H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1163353	NM_015270.5(ADCY6):c.1904G>A (p.Arg635His)	ADCY6 (R635H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082009	NM_015270.5(ADCY6):c.1894A>G (p.Ile632Val)	ADCY6 (I632V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1252860	NM_015270.5(ADCY6):c.1833-29A>T	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2244843	NM_015270.5(ADCY6):c.1774C>T (p.Arg592Trp)	ADCY6 (R592W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082003	NM_015270.5(ADCY6):c.1744C>G (p.Pro582Ala)	ADCY6 (P582A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1694073	NM_015270.5(ADCY6):c.1711C>T (p.Arg571Trp)	ADCY6 (R571W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325775	NM_015270.5(ADCY6):c.1700C>T (p.Ala567Val)	ADCY6 (A567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789524	NM_015270.5(ADCY6):c.1692C>T (p.Ala564=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2549332	NM_015270.5(ADCY6):c.1678A>G (p.Lys560Glu)	ADCY6 (K560E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 754517	NM_015270.5(ADCY6):c.1678-4A>G	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745729	NM_015270.5(ADCY6):c.1678-6G>A	ADCY6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 718565	NM_015270.5(ADCY6):c.1640T>C (p.Ile547Thr)	ADCY6 (I547T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2263121	NM_015270.5(ADCY6):c.1613G>A (p.Arg538His)	ADCY6 (R538H)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8 +1 more	GUncertain significance
Select item 732350	NM_015270.5(ADCY6):c.1535+7del	ADCY6	Deletion (intron variant)	not provided	GLikely benign
Select item 995839	NM_015270.5(ADCY6):c.1535+1G>A	ADCY6	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 8	GPathogenic
Select item 2549689	NM_015270.5(ADCY6):c.1511A>G (p.His504Arg)	ADCY6 (H504R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221460	NM_015270.5(ADCY6):c.1463G>A (p.Arg488Gln)	ADCY6 (R488Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541426	NM_015270.5(ADCY6):c.1442A>G (p.His481Arg)	ADCY6 (H481R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1277272	NM_015270.5(ADCY6):c.1437C>T (p.Arg479=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3057322	NM_015270.5(ADCY6):c.1431C>T (p.Ser477=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 3042589	NM_015270.5(ADCY6):c.1425C>T (p.Ile475=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 791318	NM_015270.5(ADCY6):c.1410C>T (p.Asn470=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249123	NM_015270.5(ADCY6):c.1377-56G>A	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225210	NM_015270.5(ADCY6):c.1376+168C>T	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 797997	NM_015270.5(ADCY6):c.1333C>A (p.His445Asn)	ADCY6 (H445N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740050	NM_015270.5(ADCY6):c.1311G>T (p.Pro437=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 752248	NM_015270.5(ADCY6):c.1239G>A (p.Lys413=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081970	NM_015270.5(ADCY6):c.1238A>G (p.Lys413Arg)	ADCY6 (K413R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058051	NM_015270.5(ADCY6):c.1032G>A (p.Ser344=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 931553	NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)	ADCY6 (L343V)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GUncertain significance
Select item 1256975	NM_015270.5(ADCY6):c.1014+101A>G	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3082113	NM_015270.5(ADCY6):c.935T>C (p.Val312Ala)	ADCY6 (V312A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303387	NM_015270.5(ADCY6):c.928G>A (p.Ala310Thr)	ADCY6 (A310T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749842	NM_015270.5(ADCY6):c.865-4G>T	ADCY6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245711	NM_015270.5(ADCY6):c.865-279G>A	ADCY6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049103	NM_015270.5(ADCY6):c.852C>T (p.Phe284=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 2610919	NM_015270.5(ADCY6):c.815T>C (p.Leu272Ser)	ADCY6 (L272S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558301	NM_015270.5(ADCY6):c.766C>T (p.Arg256Cys)	ADCY6 (R256C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474247	NM_015270.5(ADCY6):c.728T>G (p.Val243Gly)	ADCY6 (V243G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082083	NM_015270.5(ADCY6):c.715C>G (p.Leu239Val)	ADCY6 (L239V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726888	NM_015270.5(ADCY6):c.711G>A (p.Ala237=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2507550	NM_015270.5(ADCY6):c.706T>C (p.Ser236Pro)	ADCY6 (S236P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3082076	NM_015270.5(ADCY6):c.695C>T (p.Pro232Leu)	ADCY6 (P232L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275256	NM_015270.5(ADCY6):c.682C>G (p.Leu228Val)	ADCY6 (L228V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549557	NM_015270.5(ADCY6):c.679G>A (p.Ala227Thr)	ADCY6 (A227T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057934	NM_015270.5(ADCY6):c.678C>T (p.Gly226=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
Select item 1273070	NM_015270.5(ADCY6):c.636C>T (p.Ser212=)	ADCY6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2690848	NM_015270.5(ADCY6):c.583_585del (p.Met195del)	ADCY6 (M195del)	Deletion (inframe_deletion +1 more)	Lethal congenital contracture syndrome 8	GUncertain significance
Select item 2690847	NM_015270.5(ADCY6):c.520G>A (p.Ala174Thr)	ADCY6 (A174T)	Single nucleotide variant (missense variant +1 more)	Lethal congenital contracture syndrome 8	GUncertain significance
Select item 734417	NM_015270.5(ADCY6):c.519C>G (p.Pro173=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745148	NM_015270.5(ADCY6):c.471G>C (p.Ala157=)	ADCY6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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