21285[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 521

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 151438	GRCh38/hg38 1q24.2(chr1:167801066-167863028)x1	ADCY10, LOC129931873	Copy number loss	See cases	GLikely benign
Select item 1232117	NM_018417.6(ADCY10):c.*210T>G	ADCY10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1250999	NM_018417.6(ADCY10):c.*72C>T	ADCY10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2076779	NM_018417.6(ADCY10):c.4822A>G (p.Asn1608Asp)	ADCY10 (N1455D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851547	NM_018417.6(ADCY10):c.4817T>G (p.Val1606Gly)	ADCY10 (V1514G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057787	NM_018417.6(ADCY10):c.4816G>A (p.Val1606Met)	ADCY10 (V1453M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1123422	NM_018417.6(ADCY10):c.4815C>T (p.Thr1605=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2215552	NM_018417.6(ADCY10):c.4814C>T (p.Thr1605Ile)	ADCY10 (T1452I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081314	NM_018417.6(ADCY10):c.4769A>T (p.Asn1590Ile)	ADCY10 (N1437I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1016266	NM_018417.6(ADCY10):c.4763G>C (p.Arg1588Thr)	ADCY10 (R1435T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2161315	NM_018417.6(ADCY10):c.4754T>C (p.Val1585Ala)	ADCY10 (V1585A +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 720996	NM_018417.6(ADCY10):c.4752T>C (p.Ile1584=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1164706	NM_018417.6(ADCY10):c.4721C>T (p.Thr1574Met)	ADCY10 (T1421M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2989692	NM_018417.6(ADCY10):c.4715T>C (p.Leu1572Pro)	ADCY10 (L1572P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3081311	NM_018417.6(ADCY10):c.4713G>C (p.Trp1571Cys)	ADCY10 (W1571C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337771	NM_018417.6(ADCY10):c.4681T>G (p.Tyr1561Asp)	ADCY10 (Y1469D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248268	NM_018417.6(ADCY10):c.4671+97T>G	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2877803	NM_018417.6(ADCY10):c.4669A>T (p.Lys1557Ter)	ADCY10 (K1404* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1078675	NM_018417.6(ADCY10):c.4651T>C (p.Cys1551Arg)	ADCY10 (C1398R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2726065	NM_018417.6(ADCY10):c.4647G>T (p.Glu1549Asp)	ADCY10 (E1457D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999676	NM_018417.6(ADCY10):c.4628C>T (p.Thr1543Ile)	ADCY10 (T1390I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848956	NM_018417.6(ADCY10):c.4625A>G (p.Glu1542Gly)	ADCY10 (E1450G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085287	NM_018417.6(ADCY10):c.4615C>T (p.Arg1539Trp)	ADCY10 (R1447W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497719	NM_018417.6(ADCY10):c.4573G>A (p.Gly1525Arg)	ADCY10 (G1372R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164408	NM_018417.6(ADCY10):c.4562G>A (p.Cys1521Tyr)	ADCY10 (C1368Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 955513	NM_018417.6(ADCY10):c.4558G>A (p.Val1520Ile)	ADCY10 (V1367I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998450	NM_018417.6(ADCY10):c.4547T>C (p.Leu1516Pro)	ADCY10 (L1363P +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2762833	NM_018417.6(ADCY10):c.4531C>A (p.Pro1511Thr)	ADCY10 (P1419T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350179	NM_018417.6(ADCY10):c.4530C>G (p.Cys1510Trp)	ADCY10 (C1357W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1018816	NM_018417.6(ADCY10):c.4504C>G (p.Gln1502Glu)	ADCY10 (Q1349E +2 more)	Single nucleotide variant (missense variant)	Familial idiopathic hypercalciuria +2 more	GUncertain significance
Select item 2690843	NM_018417.6(ADCY10):c.4483-12_4484del	ADCY10	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 1538173	NM_018417.6(ADCY10):c.4483-7dup	ADCY10	Duplication (intron variant)	not provided	GBenign
Select item 2955286	NM_018417.6(ADCY10):c.4483-7del	ADCY10	Deletion (intron variant)	not provided	GBenign
Select item 1268739	NM_018417.6(ADCY10):c.4482+278T>C	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237192	NM_018417.6(ADCY10):c.4482+45G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777954	NM_018417.6(ADCY10):c.4482+3G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1076639	NM_018417.6(ADCY10):c.4477del (p.Leu1493fs)	ADCY10 (L1340fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2306475	NM_018417.6(ADCY10):c.4444T>A (p.Ser1482Thr)	ADCY10 (S1329T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2736492	NM_018417.6(ADCY10):c.4441C>G (p.Gln1481Glu)	ADCY10 (Q1389E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1075582	NM_018417.6(ADCY10):c.4438G>T (p.Glu1480Ter)	ADCY10 (E1327* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1919428	NM_018417.6(ADCY10):c.4430A>G (p.Gln1477Arg)	ADCY10 (Q1477R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943548	NM_018417.6(ADCY10):c.4424A>G (p.Gln1475Arg)	ADCY10 (Q1475R +2 more)	Single nucleotide variant (missense variant)	Familial idiopathic hypercalciuria +2 more	GUncertain significance
Select item 1960557	NM_018417.6(ADCY10):c.4399A>G (p.Met1467Val)	ADCY10 (M1314V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789947	NM_018417.6(ADCY10):c.4389A>T (p.Ile1463=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2460014	NM_018417.6(ADCY10):c.4384G>A (p.Gly1462Arg)	ADCY10 (G1309R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2707127	NM_018417.6(ADCY10):c.4383C>T (p.Asp1461=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470673	NM_018417.6(ADCY10):c.4378T>C (p.Tyr1460His)	ADCY10 (Y1368H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791225	NM_018417.6(ADCY10):c.4377C>T (p.Tyr1459=)	ADCY10	Single nucleotide variant (synonymous variant)	Familial idiopathic hypercalciuria +1 more	GBenign/Likely benign
Select item 1547749	NM_018417.6(ADCY10):c.4334G>C (p.Arg1445Thr)	ADCY10 (R1292T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1443822	NM_018417.6(ADCY10):c.4317T>A (p.Phe1439Leu)	ADCY10 (F1286L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 769248	NM_018417.6(ADCY10):c.4313A>G (p.Asn1438Ser)	ADCY10 (N1285S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3081282	NM_018417.6(ADCY10):c.4292C>T (p.Ala1431Val)	ADCY10 (A1339V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607817	NM_018417.6(ADCY10):c.4287G>C (p.Trp1429Cys)	ADCY10 (W1429C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1978244	NM_018417.6(ADCY10):c.4248T>C (p.Ser1416=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3081277	NM_018417.6(ADCY10):c.4244A>T (p.His1415Leu)	ADCY10 (H1262L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 960432	NM_018417.6(ADCY10):c.4232T>A (p.Ile1411Asn)	ADCY10 (I1258N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891951	NM_018417.6(ADCY10):c.4227C>A (p.Asn1409Lys)	ADCY10 (N1409K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069519	NM_018417.6(ADCY10):c.4220A>G (p.Glu1407Gly)	ADCY10 (E1315G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2177083	NM_018417.6(ADCY10):c.4212C>T (p.His1404=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181300	NM_018417.6(ADCY10):c.4175T>C (p.Val1392Ala)	ADCY10 (V1239A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1044489	NM_018417.6(ADCY10):c.4171T>G (p.Phe1391Val)	ADCY10 (F1299V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1262199	NM_018417.6(ADCY10):c.4168+196G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243011	NM_018417.6(ADCY10):c.4168+167C>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1990447	NM_018417.6(ADCY10):c.4168+17G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927244	NM_018417.6(ADCY10):c.4168+10G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1066395	NM_018417.6(ADCY10):c.4168+1G>A	ADCY10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1941474	NM_018417.6(ADCY10):c.4147T>C (p.Leu1383=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236363	NM_018417.6(ADCY10):c.4136A>G (p.Tyr1379Cys)	ADCY10 (Y1226C +2 more)	Single nucleotide variant (missense variant)	Familial idiopathic hypercalciuria	GUncertain significance
Select item 1491676	NM_018417.6(ADCY10):c.4082G>A (p.Arg1361Gln)	ADCY10 (R1269Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722927	NM_018417.6(ADCY10):c.4081C>T (p.Arg1361Trp)	ADCY10 (R1269W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956118	NM_018417.6(ADCY10):c.4078G>A (p.Gly1360Arg)	ADCY10 (G1207R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711294	NM_018417.6(ADCY10):c.4075C>T (p.Leu1359=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 743229	NM_018417.6(ADCY10):c.4072G>T (p.Val1358Leu)	ADCY10 (V1205L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1122627	NM_018417.6(ADCY10):c.4059G>T (p.Pro1353=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164871	NM_018417.6(ADCY10):c.4058C>T (p.Pro1353Leu)	ADCY10 (P1200L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2454869	NM_018417.6(ADCY10):c.4055A>G (p.Tyr1352Cys)	ADCY10 (Y1260C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1896267	NM_018417.6(ADCY10):c.4053-20C>T	ADCY10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247389	NM_018417.6(ADCY10):c.4053-256G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279980	NM_018417.6(ADCY10):c.4053-321dup	ADCY10	Duplication (intron variant)	not provided	GBenign
Select item 1238042	NM_018417.6(ADCY10):c.4053-301G>T	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232957	NM_018417.6(ADCY10):c.4053-321_4053-320dup	ADCY10	Duplication (intron variant)	not provided	GBenign
Select item 1318259	NM_018417.6(ADCY10):c.4053-302del	ADCY10	Deletion (intron variant)	not provided	GLikely benign
Select item 1287857	NM_018417.6(ADCY10):c.4052+237A>G	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252888	NM_018417.6(ADCY10):c.4052+209C>T	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297833	NM_018417.6(ADCY10):c.4052+44G>A	ADCY10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2717890	NM_018417.6(ADCY10):c.4052+2T>C	ADCY10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3081270	NM_018417.6(ADCY10):c.4049G>A (p.Ser1350Asn)	ADCY10 (S1197N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2071545	NM_018417.6(ADCY10):c.4047C>T (p.Asn1349=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507974	NM_018417.6(ADCY10):c.4034G>A (p.Cys1345Tyr)	ADCY10 (C1192Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2159704	NM_018417.6(ADCY10):c.4030A>C (p.Arg1344=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 948647	NM_018417.6(ADCY10):c.4000C>T (p.Arg1334Ter)	ADCY10 (R1181* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 731293	NM_018417.6(ADCY10):c.3999C>T (p.Asn1333=)	ADCY10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558867	NM_018417.6(ADCY10):c.3998A>G (p.Asn1333Ser)	ADCY10 (N1241S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2060623	NM_018417.6(ADCY10):c.3961C>T (p.Arg1321Ter)	ADCY10 (R1168* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

<< First< Prev

Page of 6