"GeneDx"[submitter] AND "ADCY1"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 1316202	NM_021116.4(ADCY1):c.204C>T (p.Leu68=)	ADCY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1238867	NM_021116.4(ADCY1):c.234C>G (p.Ala78=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317252	NM_021116.4(ADCY1):c.248C>T (p.Ala83Val)	ADCY1, LOC129998402 (A83V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1317902	NM_021116.4(ADCY1):c.258C>G (p.Pro86=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1318231	NM_021116.4(ADCY1):c.462G>A (p.Gly154=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1290583	NM_021116.4(ADCY1):c.640-267G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316836	NM_021116.4(ADCY1):c.640-198G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257758	NM_021116.4(ADCY1):c.789+115T>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316838	NM_021116.4(ADCY1):c.790-85G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517530	NM_021116.4(ADCY1):c.897C>T (p.His299=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1243555	NM_021116.4(ADCY1):c.908+271_908+272insGGTG	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 1266220	NM_021116.4(ADCY1):c.908+276G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228327	NM_021116.4(ADCY1):c.908+281_908+282insA	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 1254382	NM_021116.4(ADCY1):c.908+293G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265592	NM_021116.4(ADCY1):c.908+300T>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259771	NM_021116.4(ADCY1):c.908+302G>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241297	NM_021116.4(ADCY1):c.908+320_908+321insG	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 1318105	NM_021116.4(ADCY1):c.908+322T>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230931	NM_021116.4(ADCY1):c.908+324_908+325insCGG	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 718536	NM_021116.4(ADCY1):c.1005C>T (p.Phe335=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270900	NM_021116.4(ADCY1):c.1021-196A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286873	NM_021116.4(ADCY1):c.1021-36G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277175	NM_021116.4(ADCY1):c.1148+179A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316960	NM_021116.4(ADCY1):c.1148+197C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316959	NM_021116.4(ADCY1):c.1148+220C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316683	NM_021116.4(ADCY1):c.1149-258A>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317935	NM_021116.4(ADCY1):c.1149-238C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188952	NM_021116.4(ADCY1):c.1149-31C>G	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188953	NM_021116.4(ADCY1):c.1149-29T>C	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 666613	NM_021116.4(ADCY1):c.1293C>T (p.Ala431=)	ADCY1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1263245	NM_021116.4(ADCY1):c.1308-270_1308-269del	ADCY1	Deletion (intron variant)	not provided	GBenign
Select item 1275459	NM_021116.4(ADCY1):c.1308-208T>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232671	NM_021116.4(ADCY1):c.1308-207G>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285902	NM_021116.4(ADCY1):c.1450-45G>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517524	NM_021116.4(ADCY1):c.1450-5G>T	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 517531	NM_021116.4(ADCY1):c.1554C>T (p.Phe518=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1280820	NM_021116.4(ADCY1):c.1605+2158G>A	ADCY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317820	NM_021116.4(ADCY1):c.1606-302C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317590	NM_021116.4(ADCY1):c.1606-232A>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390469	NM_021116.4(ADCY1):c.1628C>T (p.Ser543Leu)	ADCY1 (S543L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272846	NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp)	ADCY1 (R597W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1221464	NM_021116.4(ADCY1):c.1800+49T>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708870	NM_021116.4(ADCY1):c.1833C>T (p.Ser611=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1263657	NM_021116.4(ADCY1):c.1898+81G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316839	NM_021116.4(ADCY1):c.1899-219G>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318397	NM_021116.4(ADCY1):c.1983+132del	ADCY1	Deletion (intron variant)	not provided	GLikely benign
Select item 1227250	NM_021116.4(ADCY1):c.2073+29T>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231345	NM_021116.4(ADCY1):c.2074-76G>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343040	NM_021116.4(ADCY1):c.2271C>T (p.Ser757=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318396	NM_021116.4(ADCY1):c.2295C>T (p.Leu765=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 499489	NM_021116.4(ADCY1):c.2327+6T>A	ADCY1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1317645	NM_021116.4(ADCY1):c.2327+31T>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317233	NM_021116.4(ADCY1):c.2328-153A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316294	NM_021116.4(ADCY1):c.2328-140C>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317906	NM_021116.4(ADCY1):c.2379C>G (p.Leu793=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1260697	NM_021116.4(ADCY1):c.2454+180G>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258968	NM_021116.4(ADCY1):c.2454+231G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316295	NM_021116.4(ADCY1):c.2455-248G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188954	NM_021116.4(ADCY1):c.2571+37T>G	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1318036	NM_021116.4(ADCY1):c.2706C>T (p.Ala902=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1188955	NM_021116.4(ADCY1):c.2718+58G>A	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1317504	NM_021116.4(ADCY1):c.2718+66A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278470	NM_021116.4(ADCY1):c.2718+193C>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260295	NM_021116.4(ADCY1):c.2719-250G>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316961	NM_021116.4(ADCY1):c.2719-145T>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270955	NM_021116.4(ADCY1):c.2719-62C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780677	NM_021116.4(ADCY1):c.2739C>T (p.Tyr913=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317516	NM_021116.4(ADCY1):c.2817+206T>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231771	NM_021116.4(ADCY1):c.2817+217C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318356	NM_021116.4(ADCY1):c.2818-266C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260073	NM_021116.4(ADCY1):c.2818-16A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667035	NM_021116.4(ADCY1):c.2818G>A (p.Ala940Thr)	ADCY1 (A940T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1262365	NM_021116.4(ADCY1):c.3057+317G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316840	NM_021116.4(ADCY1):c.3058-126C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287343	NM_021116.4(ADCY1):c.3058-53A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 517532	NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 667036	NM_021116.4(ADCY1):c.3184G>A (p.Gly1062Ser)	ADCY1 (G1062S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1316879	NM_021116.4(ADCY1):c.3282C>T (p.Gly1094=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667037	NM_021116.4(ADCY1):c.*3G>T	ADCY1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign

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Items: 82