223[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 3078292	NM_014272.5(ADAMTS7):c.5057G>A (p.Arg1686His)	ADAMTS7 (R1686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078288	NM_014272.5(ADAMTS7):c.5045G>A (p.Arg1682Gln)	ADAMTS7 (R1682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204815	NM_014272.5(ADAMTS7):c.4997G>A (p.Arg1666His)	ADAMTS7 (R1666H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596178	NM_014272.5(ADAMTS7):c.4982G>A (p.Arg1661His)	ADAMTS7 (R1661H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472335	NM_014272.5(ADAMTS7):c.4973C>T (p.Pro1658Leu)	ADAMTS7 (P1658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078273	NM_014272.5(ADAMTS7):c.4960C>T (p.Arg1654Cys)	ADAMTS7 (R1654C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398638	NM_014272.5(ADAMTS7):c.4949G>A (p.Arg1650His)	ADAMTS7 (R1650H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542400	NM_014272.5(ADAMTS7):c.4948C>T (p.Arg1650Cys)	ADAMTS7 (R1650C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358057	NM_014272.5(ADAMTS7):c.4891G>A (p.Val1631Ile)	ADAMTS7 (V1631I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412156	NM_014272.5(ADAMTS7):c.4876G>A (p.Glu1626Lys)	ADAMTS7 (E1626K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267864	NM_014272.5(ADAMTS7):c.4874C>T (p.Thr1625Ile)	ADAMTS7 (T1625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470880	NM_014272.5(ADAMTS7):c.4865C>T (p.Pro1622Leu)	ADAMTS7 (P1622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078253	NM_014272.5(ADAMTS7):c.4861C>T (p.Arg1621Trp)	ADAMTS7 (R1621W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208056	NM_014272.5(ADAMTS7):c.4786T>C (p.Cys1596Arg)	ADAMTS7 (C1596R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619622	NM_014272.5(ADAMTS7):c.4759G>C (p.Gly1587Arg)	ADAMTS7 (G1587R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645614	NM_014272.5(ADAMTS7):c.4713G>T (p.Thr1571=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267813	NM_014272.5(ADAMTS7):c.4687C>T (p.Arg1563Trp)	ADAMTS7 (R1563W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400886	NM_014272.5(ADAMTS7):c.4685C>T (p.Thr1562Ile)	ADAMTS7 (T1562I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234496	NM_014272.5(ADAMTS7):c.4660G>A (p.Glu1554Lys)	ADAMTS7 (E1554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774498	NM_014272.5(ADAMTS7):c.4659C>T (p.Cys1553=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3078243	NM_014272.5(ADAMTS7):c.4602G>T (p.Glu1534Asp)	ADAMTS7 (E1534D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595618	NM_014272.5(ADAMTS7):c.4600G>A (p.Glu1534Lys)	ADAMTS7 (E1534K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645615	NM_014272.5(ADAMTS7):c.4515C>T (p.Pro1505=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536228	NM_014272.5(ADAMTS7):c.4496G>A (p.Arg1499Gln)	ADAMTS7 (R1499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078234	NM_014272.5(ADAMTS7):c.4478G>A (p.Arg1493Gln)	ADAMTS7 (R1493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294840	NM_014272.5(ADAMTS7):c.4463A>G (p.Gln1488Arg)	ADAMTS7 (Q1488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247761	NM_014272.5(ADAMTS7):c.4459G>A (p.Val1487Met)	ADAMTS7 (V1487M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078218	NM_014272.5(ADAMTS7):c.4438G>A (p.Gly1480Arg)	ADAMTS7 (G1480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598114	NM_014272.5(ADAMTS7):c.4427G>A (p.Arg1476His)	ADAMTS7 (R1476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461770	NM_014272.5(ADAMTS7):c.4382G>A (p.Arg1461Gln)	ADAMTS7 (R1461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592506	NM_014272.5(ADAMTS7):c.4370G>A (p.Arg1457His)	ADAMTS7 (R1457H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267830	NM_014272.5(ADAMTS7):c.4360C>G (p.Pro1454Ala)	ADAMTS7 (P1454A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403336	NM_014272.5(ADAMTS7):c.4351C>T (p.Arg1451Trp)	ADAMTS7 (R1451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078204	NM_014272.5(ADAMTS7):c.4322G>A (p.Gly1441Asp)	ADAMTS7 (G1441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078201	NM_014272.5(ADAMTS7):c.4321G>C (p.Gly1441Arg)	ADAMTS7 (G1441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364473	NM_014272.5(ADAMTS7):c.4310G>A (p.Arg1437His)	ADAMTS7 (R1437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645616	NM_014272.5(ADAMTS7):c.4305G>A (p.Pro1435=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214224	NM_014272.5(ADAMTS7):c.4292C>T (p.Ala1431Val)	ADAMTS7 (A1431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248671	NM_014272.5(ADAMTS7):c.4214C>T (p.Ala1405Val)	ADAMTS7 (A1405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351429	NM_014272.5(ADAMTS7):c.4213G>A (p.Ala1405Thr)	ADAMTS7 (A1405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373857	NM_014272.5(ADAMTS7):c.4165C>T (p.Pro1389Ser)	ADAMTS7 (P1389S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3267885	NM_014272.5(ADAMTS7):c.4143C>A (p.Ser1381Arg)	ADAMTS7 (S1381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224652	NM_014272.5(ADAMTS7):c.4124C>A (p.Ser1375Tyr)	ADAMTS7 (S1375Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078168	NM_014272.5(ADAMTS7):c.4039A>G (p.Met1347Val)	ADAMTS7 (M1347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267807	NM_014272.5(ADAMTS7):c.4036C>T (p.His1346Tyr)	ADAMTS7 (H1346Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411167	NM_014272.5(ADAMTS7):c.4033G>A (p.Gly1345Arg)	ADAMTS7 (G1345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251963	NM_014272.5(ADAMTS7):c.3952C>A (p.Pro1318Thr)	ADAMTS7 (P1318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270494	NM_014272.5(ADAMTS7):c.3934C>G (p.Pro1312Ala)	ADAMTS7 (P1312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078155	NM_014272.5(ADAMTS7):c.3932A>G (p.Glu1311Gly)	ADAMTS7 (E1311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495200	NM_014272.5(ADAMTS7):c.3913G>A (p.Val1305Ile)	ADAMTS7 (V1305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078151	NM_014272.5(ADAMTS7):c.3859G>A (p.Val1287Ile)	ADAMTS7 (V1287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217275	NM_014272.5(ADAMTS7):c.3856A>G (p.Thr1286Ala)	ADAMTS7 (T1286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078145	NM_014272.5(ADAMTS7):c.3799G>T (p.Ala1267Ser)	ADAMTS7 (A1267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594049	NM_014272.5(ADAMTS7):c.3773C>T (p.Ala1258Val)	ADAMTS7 (A1258V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519303	NM_014272.5(ADAMTS7):c.3769G>A (p.Val1257Met)	ADAMTS7 (V1257M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390582	NM_014272.5(ADAMTS7):c.3731C>G (p.Ser1244Cys)	ADAMTS7 (S1244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548954	NM_014272.5(ADAMTS7):c.3724C>T (p.Pro1242Ser)	ADAMTS7 (P1242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365310	NM_014272.5(ADAMTS7):c.3724C>A (p.Pro1242Thr)	ADAMTS7 (P1242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517581	NM_014272.5(ADAMTS7):c.3697C>T (p.Pro1233Ser)	ADAMTS7 (P1233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378871	NM_014272.5(ADAMTS7):c.3680G>A (p.Arg1227Gln)	ADAMTS7 (R1227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308484	NM_014272.5(ADAMTS7):c.3658G>C (p.Asp1220His)	ADAMTS7 (D1220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078118	NM_014272.5(ADAMTS7):c.3655A>G (p.Lys1219Glu)	ADAMTS7 (K1219E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619321	NM_014272.5(ADAMTS7):c.3640A>G (p.Thr1214Ala)	ADAMTS7 (T1214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078114	NM_014272.5(ADAMTS7):c.3632G>A (p.Arg1211Gln)	ADAMTS7 (R1211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078109	NM_014272.5(ADAMTS7):c.3622C>T (p.Pro1208Ser)	ADAMTS7 (P1208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326718	NM_014272.5(ADAMTS7):c.3595G>A (p.Gly1199Ser)	ADAMTS7 (G1199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078100	NM_014272.5(ADAMTS7):c.3571G>C (p.Glu1191Gln)	ADAMTS7 (E1191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351428	NM_014272.5(ADAMTS7):c.3566C>A (p.Thr1189Asn)	ADAMTS7 (T1189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385756	NM_014272.5(ADAMTS7):c.3560C>T (p.Pro1187Leu)	ADAMTS7 (P1187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283231	NM_014272.5(ADAMTS7):c.3521T>C (p.Leu1174Pro)	ADAMTS7 (L1174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078092	NM_014272.5(ADAMTS7):c.3496G>A (p.Ala1166Thr)	ADAMTS7 (A1166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551561	NM_014272.5(ADAMTS7):c.3490A>G (p.Ile1164Val)	ADAMTS7 (I1164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569071	NM_014272.5(ADAMTS7):c.3484A>G (p.Thr1162Ala)	ADAMTS7 (T1162A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078082	NM_014272.5(ADAMTS7):c.3428C>T (p.Pro1143Leu)	ADAMTS7 (P1143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078075	NM_014272.5(ADAMTS7):c.3424C>T (p.Pro1142Ser)	ADAMTS7 (P1142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078071	NM_014272.5(ADAMTS7):c.3424C>A (p.Pro1142Thr)	ADAMTS7 (P1142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078069	NM_014272.5(ADAMTS7):c.3419C>T (p.Ser1140Phe)	ADAMTS7 (S1140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078066	NM_014272.5(ADAMTS7):c.3415C>T (p.Arg1139Cys)	ADAMTS7 (R1139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267777	NM_014272.5(ADAMTS7):c.3412G>A (p.Gly1138Ser)	ADAMTS7 (G1138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387838	NM_014272.5(ADAMTS7):c.3287C>A (p.Pro1096His)	ADAMTS7 (P1096H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645617	NM_014272.5(ADAMTS7):c.3286C>A (p.Pro1096Thr)	ADAMTS7 (P1096T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2283668	NM_014272.5(ADAMTS7):c.3281G>C (p.Arg1094Pro)	ADAMTS7 (R1094P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078049	NM_014272.5(ADAMTS7):c.3280C>G (p.Arg1094Gly)	ADAMTS7 (R1094G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645618	NM_014272.5(ADAMTS7):c.3252C>T (p.Pro1084=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078040	NM_014272.5(ADAMTS7):c.3250C>T (p.Pro1084Ser)	ADAMTS7 (P1084S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291455	NM_014272.5(ADAMTS7):c.3248A>G (p.Glu1083Gly)	ADAMTS7 (E1083G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396079	NM_014272.5(ADAMTS7):c.3236G>A (p.Gly1079Glu)	ADAMTS7 (G1079E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351567	NM_014272.5(ADAMTS7):c.3235G>A (p.Gly1079Arg)	ADAMTS7 (G1079R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078031	NM_014272.5(ADAMTS7):c.3220G>A (p.Glu1074Lys)	ADAMTS7 (E1074K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645619	NM_014272.5(ADAMTS7):c.3219C>T (p.His1073=)	ADAMTS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317520	NM_014272.5(ADAMTS7):c.3193T>C (p.Tyr1065His)	ADAMTS7 (Y1065H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389550	NM_014272.5(ADAMTS7):c.3184G>A (p.Asp1062Asn)	ADAMTS7 (D1062N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357223	NM_014272.5(ADAMTS7):c.3177T>G (p.Phe1059Leu)	ADAMTS7 (F1059L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281963	NM_014272.5(ADAMTS7):c.3119C>A (p.Thr1040Asn)	ADAMTS7 (T1040N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218003	NM_014272.5(ADAMTS7):c.3086G>A (p.Arg1029His)	ADAMTS7 (R1029H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645620	NM_014272.5(ADAMTS7):c.3071A>G (p.His1024Arg)	ADAMTS7 (H1024R)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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