2218[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 297278	NM_001852.4(COL9A2):c.*683G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297279	NM_001852.4(COL9A2):c.*578C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 874278	NM_001852.4(COL9A2):c.*561A>G	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GLikely benign
Select item 297280	NM_001852.4(COL9A2):c.*543G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 297281	NM_001852.4(COL9A2):c.*443C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 875213	NM_001852.4(COL9A2):c.*405G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297282	NM_001852.4(COL9A2):c.*386C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297283	NM_001852.4(COL9A2):c.*370G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 875214	NM_001852.4(COL9A2):c.*369C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297284	NM_001852.4(COL9A2):c.*322G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297285	NM_001852.4(COL9A2):c.*312T>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 876171	NM_001852.4(COL9A2):c.*263C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 297286	NM_001852.4(COL9A2):c.*236G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GBenign
Select item 297287	NM_001852.4(COL9A2):c.*230C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297288	NM_001852.4(COL9A2):c.*122T>C	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GBenign
Select item 876172	NM_001852.4(COL9A2):c.*111C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 297289	NM_001852.4(COL9A2):c.*67A>G	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GUncertain significance
Select item 876173	NM_001852.4(COL9A2):c.*38G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 1469300	NM_001852.4(COL9A2):c.2069G>A (p.Ter690=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814644	NM_001852.4(COL9A2):c.2063G>A (p.Gly688Glu)	COL9A2 (G688E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014436	NM_001852.4(COL9A2):c.2061G>C (p.Lys687Asn)	COL9A2 (K687N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417900	NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)	COL9A2 (K687E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291230	NM_001852.4(COL9A2):c.2058C>T (p.Ile686=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1511987	NM_001852.4(COL9A2):c.2056A>G (p.Ile686Val)	COL9A2 (I686V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144325	NM_001852.4(COL9A2):c.2051G>A (p.Gly684Glu)	COL9A2 (G684E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903157	NM_001852.4(COL9A2):c.2048C>G (p.Pro683Arg)	COL9A2 (P683R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306019	NM_001852.4(COL9A2):c.2048C>T (p.Pro683Leu)	COL9A2 (P683L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983459	NM_001852.4(COL9A2):c.2037C>T (p.Arg679=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876311	NM_001852.4(COL9A2):c.2036G>A (p.Arg679His)	COL9A2 (R679H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 196777	NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GConflicting classifications of pathogenicity
Select item 2042604	NM_001852.4(COL9A2):c.2018C>T (p.Ser673Leu)	COL9A2 (S673L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836444	NM_001852.4(COL9A2):c.2015C>A (p.Ala672Asp)	COL9A2 (A672D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520141	NM_001852.4(COL9A2):c.2012G>A (p.Gly671Glu)	COL9A2 (G671E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936508	NM_001852.4(COL9A2):c.2005T>G (p.Cys669Gly)	COL9A2 (C669G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109623	NM_001852.4(COL9A2):c.2002G>A (p.Ala668Thr)	COL9A2 (A668T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258383	NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2746842	NM_001852.4(COL9A2):c.1997C>A (p.Pro666His)	COL9A2 (P666H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430716	NM_001852.4(COL9A2):c.1993G>C (p.Glu665Gln)	COL9A2 (E665Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000392	NM_001852.4(COL9A2):c.1985G>A (p.Gly662Asp)	COL9A2 (G662D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1012003	NM_001852.4(COL9A2):c.1983G>A (p.Pro661=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1209914	NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)	COL9A2 (P661R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 196778	NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)	COL9A2 (P661L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GConflicting classifications of pathogenicity
Select item 258382	NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)	COL9A2 (P661T)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 509434	NM_001852.4(COL9A2):c.1980G>A (p.Leu660=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2031480	NM_001852.4(COL9A2):c.1977G>T (p.Gly659=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005046	NM_001852.4(COL9A2):c.1975G>C (p.Gly659Arg)	COL9A2 (G659R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521950	NM_001852.4(COL9A2):c.1972G>A (p.Val658Met)	COL9A2 (V658M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2758903	NM_001852.4(COL9A2):c.1971C>G (p.Pro657=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920378	NM_001852.4(COL9A2):c.1971C>T (p.Pro657=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503763	NM_001852.4(COL9A2):c.1970C>G (p.Pro657Arg)	COL9A2 (P657R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641127	NM_001852.4(COL9A2):c.1968C>G (p.Gly656=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801408	NM_001852.4(COL9A2):c.1965A>G (p.Pro655=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508779	NM_001852.4(COL9A2):c.1962G>T (p.Leu654=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417681	NM_001852.4(COL9A2):c.1961T>C (p.Leu654Pro)	COL9A2 (L654P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847090	NM_001852.4(COL9A2):c.1955C>T (p.Pro652Leu)	COL9A2 (P652L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478623	NM_001852.4(COL9A2):c.1955C>G (p.Pro652Arg)	COL9A2 (P652R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488739	NM_001852.4(COL9A2):c.1954C>A (p.Pro652Thr)	COL9A2 (P652T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751054	NM_001852.4(COL9A2):c.1952G>T (p.Arg651Leu)	COL9A2 (R651L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363732	NM_001852.4(COL9A2):c.1952G>A (p.Arg651Gln)	COL9A2 (R651Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876108	NM_001852.4(COL9A2):c.1951C>G (p.Arg651Gly)	COL9A2 (R651G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055389	NM_001852.4(COL9A2):c.1951C>T (p.Arg651Ter)	COL9A2 (R651*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1941030	NM_001852.4(COL9A2):c.1943A>C (p.Glu648Ala)	COL9A2 (E648A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418178	NM_001852.4(COL9A2):c.1940G>A (p.Gly647Glu)	COL9A2 (G647E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445023	NM_001852.4(COL9A2):c.1936C>T (p.Pro646Ser)	COL9A2 (P646S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147835	NM_001852.4(COL9A2):c.1925C>T (p.Ser642Phe)	COL9A2 (S642F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1199106	NM_001852.4(COL9A2):c.1925C>A (p.Ser642Tyr)	COL9A2 (S642Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757514	NM_001852.4(COL9A2):c.1919G>C (p.Arg640Pro)	COL9A2 (R640P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804182	NM_001852.4(COL9A2):c.1919G>A (p.Arg640Gln)	COL9A2 (R640Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488982	NM_001852.4(COL9A2):c.1918C>T (p.Arg640Ter)	COL9A2 (R640*)	Single nucleotide variant (nonsense)	COL9A2-related disorder +2 more	GUncertain significance
Select item 2769967	NM_001852.4(COL9A2):c.1917T>G (p.Asp639Glu)	COL9A2 (D639E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195665	NM_001852.4(COL9A2):c.1915G>A (p.Asp639Asn)	COL9A2 (D639N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507763	NM_001852.4(COL9A2):c.1914A>T (p.Gly638=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800866	NM_001852.4(COL9A2):c.1912G>A (p.Gly638Arg)	COL9A2 (G638R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816592	NM_001852.4(COL9A2):c.1910A>C (p.Asp637Ala)	COL9A2 (D637A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997201	NM_001852.4(COL9A2):c.1903G>C (p.Gly635Arg)	COL9A2 (G635R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474915	NM_001852.4(COL9A2):c.1903G>A (p.Gly635Ser)	COL9A2 (G635S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147834	NM_001852.4(COL9A2):c.1902C>G (p.Asn634Lys)	COL9A2 (N634K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 258381	NM_001852.4(COL9A2):c.1902C>T (p.Asn634=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1431482	NM_001852.4(COL9A2):c.1901A>G (p.Asn634Ser)	COL9A2 (N634S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759975	NM_001852.4(COL9A2):c.1899C>T (p.Ile633=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964842	NM_001852.4(COL9A2):c.1883_1891dup (p.Gly630_Gln631insArgProGly)	COL9A2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2744044	NM_001852.4(COL9A2):c.1884G>C (p.Arg628=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586599	NM_001852.4(COL9A2):c.1883G>A (p.Arg628Gln)	COL9A2 (R628Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1418028	NM_001852.4(COL9A2):c.1882C>T (p.Arg628Trp)	COL9A2 (R628W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967642	NM_001852.4(COL9A2):c.1881C>A (p.Gly627=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962034	NM_001852.4(COL9A2):c.1873C>T (p.Leu625Phe)	COL9A2 (L625F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258380	NM_001852.4(COL9A2):c.1871-8G>T	COL9A2	Single nucleotide variant (intron variant)	Stickler syndrome, type 5 +3 more	GLikely benign
Select item 1560799	NM_001852.4(COL9A2):c.1871-14T>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678735	NM_001852.4(COL9A2):c.1870+147G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200456	NM_001852.4(COL9A2):c.1870+119del	COL9A2	Deletion (intron variant)	not provided	GLikely benign
Select item 1245475	NM_001852.4(COL9A2):c.1870+92C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268003	NM_001852.4(COL9A2):c.1870+58T>C	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1561995	NM_001852.4(COL9A2):c.1870+20C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573301	NM_001852.4(COL9A2):c.1870+19C>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618226	NM_001852.4(COL9A2):c.1870+17G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954345	NM_001852.4(COL9A2):c.1870+16T>G	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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