ADAMTS1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 154

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 150018	GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1	ADAMTS1, ADAMTS5 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 155187	GRCh38/hg38 21q21.3(chr21:26244753-28273836)x1	ADAMTS1, ADAMTS5 +15 more	Copy number loss	See cases	GLikely benign
Select item 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 2515761	NM_006988.5(ADAMTS1):c.2884A>C (p.Thr962Pro)	ADAMTS1 (T962P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526888	NM_006988.5(ADAMTS1):c.2831C>G (p.Ser944Cys)	ADAMTS1 (S944C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288704	NM_006988.5(ADAMTS1):c.2831C>T (p.Ser944Phe)	ADAMTS1 (S944F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710161	NM_006988.5(ADAMTS1):c.2813A>G (p.His938Arg)	ADAMTS1 (H938R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3146495	NM_006988.5(ADAMTS1):c.2723C>T (p.Pro908Leu)	ADAMTS1 (P908L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615418	NM_006988.5(ADAMTS1):c.2714C>T (p.Ala905Val)	ADAMTS1 (A905V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474478	NM_006988.5(ADAMTS1):c.2591G>A (p.Gly864Asp)	ADAMTS1 (G864D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146484	NM_006988.5(ADAMTS1):c.2524G>A (p.Val842Ile)	ADAMTS1 (V842I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146479	NM_006988.5(ADAMTS1):c.2498G>A (p.Arg833Gln)	ADAMTS1 (R833Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743116	NM_006988.5(ADAMTS1):c.2466C>G (p.Thr822=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399800	NM_006988.5(ADAMTS1):c.2459C>G (p.Pro820Arg)	ADAMTS1 (P820R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266368	NM_006988.5(ADAMTS1):c.2435G>A (p.Arg812His)	ADAMTS1 (R812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710093	NM_006988.5(ADAMTS1):c.2434C>T (p.Arg812Cys)	ADAMTS1 (R812C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2588047	NM_006988.5(ADAMTS1):c.2417C>T (p.Ala806Val)	ADAMTS1 (A806V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299724	NM_006988.5(ADAMTS1):c.2387G>T (p.Gly796Val)	ADAMTS1 (G796V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791515	NM_006988.5(ADAMTS1):c.2345A>G (p.Asp782Gly)	ADAMTS1 (D782G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716247	NM_006988.5(ADAMTS1):c.2328A>G (p.Thr776=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2519967	NM_006988.5(ADAMTS1):c.2312A>G (p.Lys771Arg)	ADAMTS1 (K771R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774534	NM_006988.5(ADAMTS1):c.2267G>A (p.Arg756Gln)	ADAMTS1 (R756Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2325236	NM_006988.5(ADAMTS1):c.2266C>T (p.Arg756Trp)	ADAMTS1 (R756W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380229	NM_006988.5(ADAMTS1):c.2254G>A (p.Glu752Lys)	ADAMTS1 (E752K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605638	NM_006988.5(ADAMTS1):c.2197A>C (p.Ser733Arg)	ADAMTS1 (S733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591601	NM_006988.5(ADAMTS1):c.2195C>T (p.Thr732Ile)	ADAMTS1 (T732I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652575	NM_006988.5(ADAMTS1):c.1954G>A (p.Val652Ile)	ADAMTS1 (V652I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3266338	NM_006988.5(ADAMTS1):c.1937T>C (p.Ile646Thr)	ADAMTS1 (I646T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 711248	NM_006988.5(ADAMTS1):c.1891G>A (p.Glu631Lys)	ADAMTS1 (E631K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2471999	NM_006988.5(ADAMTS1):c.1867G>C (p.Glu623Gln)	ADAMTS1 (E623Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730730	NM_006988.5(ADAMTS1):c.1853-10C>G	ADAMTS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3146464	NM_006988.5(ADAMTS1):c.1851T>A (p.Asn617Lys)	ADAMTS1 (N617K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266378	NM_006988.5(ADAMTS1):c.1840C>T (p.Pro614Ser)	ADAMTS1 (P614S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266388	NM_006988.5(ADAMTS1):c.1828C>G (p.Leu610Val)	ADAMTS1 (L610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361177	NM_006988.5(ADAMTS1):c.1745C>T (p.Thr582Met)	ADAMTS1 (T582M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730731	NM_006988.5(ADAMTS1):c.1726G>A (p.Gly576Ser)	ADAMTS1 (G576S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652576	NM_006988.5(ADAMTS1):c.1701T>C (p.Pro567=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3266410	NM_006988.5(ADAMTS1):c.1676A>T (p.His559Leu)	ADAMTS1 (H559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269627	NM_006988.5(ADAMTS1):c.1669C>T (p.Pro557Ser)	ADAMTS1 (P557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322728	NM_006988.5(ADAMTS1):c.1632G>C (p.Lys544Asn)	ADAMTS1 (K544N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712870	NM_006988.5(ADAMTS1):c.1587G>A (p.Ala529=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3146456	NM_006988.5(ADAMTS1):c.1544C>T (p.Ser515Phe)	ADAMTS1 (S515F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340008	NM_006988.5(ADAMTS1):c.1540A>G (p.Thr514Ala)	ADAMTS1 (T514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756439	NM_006988.5(ADAMTS1):c.1503T>C (p.Asp501=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736505	NM_006988.5(ADAMTS1):c.1472C>T (p.Thr491Ile)	ADAMTS1 (T491I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708012	NM_006988.5(ADAMTS1):c.1458G>T (p.Arg486=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2470127	NM_006988.5(ADAMTS1):c.1447G>A (p.Asp483Asn)	ADAMTS1 (D483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207406	NM_006988.5(ADAMTS1):c.1442C>T (p.Ser481Leu)	ADAMTS1 (S481L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 731287	NM_006988.5(ADAMTS1):c.1399C>G (p.Pro467Ala)	ADAMTS1 (P467A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2405214	NM_006988.5(ADAMTS1):c.1352T>C (p.Ile451Thr)	ADAMTS1 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929783	NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr)	ADAMTS1 (S435Y)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 2461162	NM_006988.5(ADAMTS1):c.1265G>T (p.Gly422Val)	ADAMTS1 (G422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303480	NM_006988.5(ADAMTS1):c.1216G>A (p.Val406Met)	ADAMTS1 (V406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379763	NM_006988.5(ADAMTS1):c.1163T>C (p.Ile388Thr)	ADAMTS1 (I388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266400	NM_006988.5(ADAMTS1):c.1162A>G (p.Ile388Val)	ADAMTS1 (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716248	NM_006988.5(ADAMTS1):c.1149A>G (p.Arg383=)	ADAMTS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778902	NM_006988.5(ADAMTS1):c.1078-9dup	ADAMTS1, LOC126653334	Duplication (intron variant)	not provided	GBenign
Select item 712819	NM_006988.5(ADAMTS1):c.1077+7G>A	ADAMTS1, LOC126653334	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2368268	NM_006988.5(ADAMTS1):c.1034G>A (p.Arg345Gln)	ADAMTS1, LOC126653334 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294237	NM_006988.5(ADAMTS1):c.943G>A (p.Glu315Lys)	ADAMTS1, LOC126653334 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266348	NM_006988.5(ADAMTS1):c.924G>T (p.Lys308Asn)	ADAMTS1, LOC126653334 (K308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652577	NM_006988.5(ADAMTS1):c.837G>A (p.Lys279=)	ADAMTS1, LOC126653334	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343410	NM_006988.5(ADAMTS1):c.809T>C (p.Met270Thr)	ADAMTS1, LOC126653334 (M270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146568	NM_006988.5(ADAMTS1):c.742A>C (p.Ile248Leu)	ADAMTS1, LOC126653334 (I248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2