ADAMTS9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +105 more	Copy number loss	See cases	GPathogenic
Select item 1294798	NM_182920.2(ADAMTS9):c.5798G>A (p.Arg1933Gln)	ADAMTS9 (R1905Q +1 more)	Single nucleotide variant (missense variant)	ADAMTS9-related disorder +1 more	GBenign
Select item 2031785	NM_182920.2(ADAMTS9):c.5782A>C (p.Thr1928Pro)	ADAMTS9 (T1928P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791933	NM_182920.2(ADAMTS9):c.5760A>G (p.Gly1920=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789164	NM_182920.2(ADAMTS9):c.5742A>G (p.Lys1914=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1546394	NM_182920.2(ADAMTS9):c.5734G>A (p.Val1912Ile)	ADAMTS9 (V1884I +1 more)	Single nucleotide variant (missense variant)	ADAMTS9-related disorder +1 more	GLikely benign
Select item 2566590	NM_182920.2(ADAMTS9):c.5729G>A (p.Arg1910Gln)	ADAMTS9 (R1882Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227721	NM_182920.2(ADAMTS9):c.5718+220C>T	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1556219	NM_182920.2(ADAMTS9):c.5718+19G>A	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2364593	NM_182920.2(ADAMTS9):c.5717C>T (p.Pro1906Leu)	ADAMTS9 (P1878L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2980270	NM_182920.2(ADAMTS9):c.5691T>C (p.Tyr1897=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525903	NM_182920.2(ADAMTS9):c.5681A>G (p.Gln1894Arg)	ADAMTS9 (Q1866R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1910792	NM_182920.2(ADAMTS9):c.5658T>C (p.Thr1886=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712811	NM_182920.2(ADAMTS9):c.5646C>G (p.Gly1882=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623046	NM_182920.2(ADAMTS9):c.5632C>G (p.Leu1878Val)	ADAMTS9 (L1878V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228657	NM_182920.2(ADAMTS9):c.5617C>A (p.Arg1873Ser)	ADAMTS9 (R1873S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265324	NM_182920.2(ADAMTS9):c.5614-48A>G	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232527	NM_182920.2(ADAMTS9):c.5614-210G>A	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1410113	NM_182920.2(ADAMTS9):c.5584G>T (p.Asp1862Tyr)	ADAMTS9 (D1834Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143033	NM_182920.2(ADAMTS9):c.5580C>T (p.Ala1860=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228501	NM_182920.2(ADAMTS9):c.5551G>A (p.Glu1851Lys)	ADAMTS9 (E1823K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245807	NM_182920.2(ADAMTS9):c.5521+204T>C	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228118	NM_182920.2(ADAMTS9):c.5521+161C>T	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251849	NM_182920.2(ADAMTS9):c.5521+159A>G	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264037	NM_182920.2(ADAMTS9):c.5521+99CACATTG[2]	ADAMTS9, LOC126806704	Microsatellite (intron variant)	not provided	GBenign
Select item 1247158	NM_182920.2(ADAMTS9):c.5521+54C>G	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2853490	NM_182920.2(ADAMTS9):c.5477G>A (p.Ser1826Asn)	ADAMTS9, LOC126806704 (S1826N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2292134	NM_182920.2(ADAMTS9):c.5431G>A (p.Asp1811Asn)	ADAMTS9, LOC126806704 (D1783N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052234	NM_182920.2(ADAMTS9):c.5430C>A (p.Arg1810=)	ADAMTS9, LOC126806704	Single nucleotide variant (synonymous variant)	ADAMTS9-related disorder	GLikely benign
Select item 1418357	NM_182920.2(ADAMTS9):c.5429_5430delinsAA (p.Arg1810Gln)	ADAMTS9, LOC126806704 (R1782Q +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1468704	NM_182920.2(ADAMTS9):c.5418C>A (p.Asn1806Lys)	ADAMTS9, LOC126806704 (N1806K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242855	NM_182920.2(ADAMTS9):c.5396A>G (p.Asn1799Ser)	ADAMTS9, LOC126806704 (N1771S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1222970	NM_182920.2(ADAMTS9):c.5388-38T>G	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263575	NM_182920.2(ADAMTS9):c.5388-39C>T	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1896292	NM_182920.2(ADAMTS9):c.5387+14G>A	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2598644	NM_182920.2(ADAMTS9):c.5335G>A (p.Val1779Met)	ADAMTS9, LOC126806704 (V1779M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905860	NM_182920.2(ADAMTS9):c.5303C>A (p.Ala1768Glu)	ADAMTS9, LOC126806704 (A1768E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275404	NM_182920.2(ADAMTS9):c.5293-38T>G	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3078728	NM_182920.2(ADAMTS9):c.5261A>G (p.Tyr1754Cys)	ADAMTS9, LOC126806704 (Y1726C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2075979	NM_182920.2(ADAMTS9):c.5239G>A (p.Gly1747Ser)	ADAMTS9, LOC126806704 (G1719S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1251224	NM_182920.2(ADAMTS9):c.5219A>G (p.Lys1740Arg)	ADAMTS9, LOC126806704 (K1712R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3078725	NM_182920.2(ADAMTS9):c.5207C>A (p.Pro1736His)	ADAMTS9, LOC126806704 (P1708H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281816	NM_182920.2(ADAMTS9):c.5198-25A>G	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274295	NM_182920.2(ADAMTS9):c.5198-40G>A	LOC126806704, ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225641	NM_182920.2(ADAMTS9):c.5198-82C>T	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244533	NM_182920.2(ADAMTS9):c.5197+49G>T	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234754	NM_182920.2(ADAMTS9):c.5197+49G>A	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227294	NM_182920.2(ADAMTS9):c.5197+13A>G	ADAMTS9, LOC126806704	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1586718	NM_182920.2(ADAMTS9):c.5191T>C (p.Tyr1731His)	ADAMTS9, LOC126806704 (Y1703H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2562142	NM_182920.2(ADAMTS9):c.5177C>T (p.Thr1726Ile)	ADAMTS9, LOC126806704 (T1698I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2964161	NM_182920.2(ADAMTS9):c.5171G>A (p.Arg1724Gln)	ADAMTS9, LOC126806704 (R1696Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3078715	NM_182920.2(ADAMTS9):c.5159A>G (p.Lys1720Arg)	ADAMTS9, LOC126806704 (K1720R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291627	NM_182920.2(ADAMTS9):c.5140T>A (p.Leu1714Ile)	ADAMTS9, LOC126806704 (L1686I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1986589	NM_182920.2(ADAMTS9):c.5120A>G (p.Asn1707Ser)	ADAMTS9, LOC126806704 (N1707S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929083	NM_182920.2(ADAMTS9):c.5076T>C (p.Ser1692=)	ADAMTS9, LOC126806704	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1275247	NM_182920.2(ADAMTS9):c.5065-158G>A	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236708	NM_182920.2(ADAMTS9):c.5065-189C>A	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175412	NM_182920.2(ADAMTS9):c.5064+180T>C	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909330	NM_182920.2(ADAMTS9):c.5050G>A (p.Gly1684Ser)	ADAMTS9 (G1656S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287404	NM_182920.2(ADAMTS9):c.5022C>G (p.Asp1674Glu)	ADAMTS9 (D1646E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2992740	NM_182920.2(ADAMTS9):c.5020G>T (p.Asp1674Tyr)	ADAMTS9 (D1646Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902443	NM_182920.2(ADAMTS9):c.5019G>A (p.Arg1673=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508446	NM_182920.2(ADAMTS9):c.4994C>G (p.Pro1665Arg)	ADAMTS9 (P1637R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078707	NM_182920.2(ADAMTS9):c.4933G>A (p.Gly1645Arg)	ADAMTS9 (G1617R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746403	NM_182920.2(ADAMTS9):c.4932C>T (p.Thr1644=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778839	NM_182920.2(ADAMTS9):c.4920C>T (p.Ser1640=)	ADAMTS9	Single nucleotide variant (synonymous variant)	ADAMTS9-related disorder +1 more	GBenign
Select item 2865216	NM_182920.2(ADAMTS9):c.4913C>T (p.Ser1638Leu)	ADAMTS9 (S1610L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2632360	NM_182920.2(ADAMTS9):c.4870-2A>G	ADAMTS9	Single nucleotide variant (splice acceptor variant)	ADAMTS9-related disorder	GUncertain significance
Select item 1262094	NM_182920.2(ADAMTS9):c.4870-145A>C	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2212136	NM_182920.2(ADAMTS9):c.4829A>G (p.Gln1610Arg)	ADAMTS9 (Q1610R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209821	NM_182920.2(ADAMTS9):c.4811G>A (p.Arg1604His)	ADAMTS9 (R1576H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2185418	NM_182920.2(ADAMTS9):c.4810C>T (p.Arg1604Cys)	ADAMTS9 (R1604C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2385128	NM_182920.2(ADAMTS9):c.4802C>T (p.Pro1601Leu)	ADAMTS9 (P1573L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341294	NM_182920.2(ADAMTS9):c.4799G>A (p.Arg1600Gln)	ADAMTS9 (R1572Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716446	NM_182920.2(ADAMTS9):c.4789G>A (p.Val1597Met)	ADAMTS9 (V1569M +1 more)	Single nucleotide variant (missense variant)	ADAMTS9-related disorder +1 more	GBenign
Select item 782987	NM_182920.2(ADAMTS9):c.4788C>T (p.Asp1596=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2096577	NM_182920.2(ADAMTS9):c.4783T>A (p.Cys1595Ser)	ADAMTS9 (C1567S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2516202	NM_182920.2(ADAMTS9):c.4781G>A (p.Arg1594His)	ADAMTS9 (R1594H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312452	NM_182920.2(ADAMTS9):c.4751A>G (p.Asp1584Gly)	ADAMTS9 (D1584G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1558609	NM_182920.2(ADAMTS9):c.4743G>T (p.Val1581=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3036245	NM_182920.2(ADAMTS9):c.4735A>G (p.Lys1579Glu)	ADAMTS9 (K1551E +1 more)	Single nucleotide variant (missense variant)	ADAMTS9-related disorder	GLikely benign
Select item 2059604	NM_182920.2(ADAMTS9):c.4717G>A (p.Glu1573Lys)	ADAMTS9 (E1545K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653945	NM_182920.2(ADAMTS9):c.4716C>T (p.Gly1572=)	ADAMTS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287147	NM_182920.2(ADAMTS9):c.4707G>T (p.Lys1569Asn)	ADAMTS9 (K1541N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071140	NM_182920.2(ADAMTS9):c.4699-4A>T	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256705	NM_182920.2(ADAMTS9):c.4699-80G>A	ADAMTS9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286160	NM_182920.2(ADAMTS9):c.4698+76A>G	ADAMTS9, ADAMTS9-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2377200	NM_182920.2(ADAMTS9):c.4579G>A (p.Gly1527Arg)	ADAMTS9, ADAMTS9-AS1 (G1499R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1344639	NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs)	ADAMTS9, ADAMTS9-AS1 (Q1497fs +1 more)	Deletion (non-coding transcript variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 1535005	NM_182920.2(ADAMTS9):c.4562A>T (p.His1521Leu)	ADAMTS9, ADAMTS9-AS1 (H1493L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2978260	NM_182920.2(ADAMTS9):c.4560G>A (p.Arg1520=)	ADAMTS9, ADAMTS9-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1248560	NM_182920.2(ADAMTS9):c.4525-50C>G	ADAMTS9, ADAMTS9-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266838	NM_182920.2(ADAMTS9):c.4525-75G>A	ADAMTS9, ADAMTS9-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229313	NM_182920.2(ADAMTS9):c.4524+81A>G	ADAMTS9, ADAMTS9-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1652674	NM_182920.2(ADAMTS9):c.4524+16C>T	ADAMTS9, ADAMTS9-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2614510	NM_182920.2(ADAMTS9):c.4513G>T (p.Ala1505Ser)	ADAMTS9, ADAMTS9-AS1 (A1505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1374698	NM_182920.2(ADAMTS9):c.4513G>A (p.Ala1505Thr)	ADAMTS9, ADAMTS9-AS1 (A1505T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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