"GeneDx"[submitter] AND "COL9A2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1306019	NM_001852.4(COL9A2):c.2048C>T (p.Pro683Leu)	COL9A2 (P683L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 258383	NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 508779	NM_001852.4(COL9A2):c.1962G>T (p.Leu654=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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)	not provided +2 more	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 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 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 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 297290	NM_001852.4(COL9A2):c.1870+9T>C	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 546305	NM_001852.4(COL9A2):c.1870+5G>C	COL9A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1254289	NM_001852.4(COL9A2):c.1859C>T (p.Pro620Leu)	COL9A2 (P620L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297291	NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)	COL9A2 (G612R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1312989	NM_001852.4(COL9A2):c.1831C>T (p.Arg611Trp)	COL9A2 (R611W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297292	NM_001852.4(COL9A2):c.1824A>G (p.Glu608=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GLikely benign
Select item 1305259	NM_001852.4(COL9A2):c.1793-9T>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 258378	NM_001852.4(COL9A2):c.1793-17T>C	COL9A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 677894	NM_001852.4(COL9A2):c.1793-239_1793-238del	COL9A2	Microsatellite (intron variant)	not provided	GBenign
Select item 1198197	NM_001852.4(COL9A2):c.1793-257T>C	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190229	NM_001852.4(COL9A2):c.1792+191G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677993	NM_001852.4(COL9A2):c.1792+102C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677893	NM_001852.4(COL9A2):c.1792+55C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258377	NM_001852.4(COL9A2):c.1792+17G>A	COL9A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 874335	NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met)	COL9A2 (T594M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3368948	NM_001852.4(COL9A2):c.1753G>C (p.Val585Leu)	COL9A2 (V585L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217758	NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)	COL9A2 (V585M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874336	NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu)	COL9A2 (V585L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1314048	NM_001852.4(COL9A2):c.1743del (p.Pro582fs)	COL9A2 (P582fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 196620	NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)	COL9A2 (V581I)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign
Select item 511939	NM_001852.4(COL9A2):c.1740C>T (p.Gly580=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 297293	NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala)	COL9A2 (P578A)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 2499229	NM_001852.4(COL9A2):c.1702G>A (p.Gly568Ser)	COL9A2 (G568S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432672	NM_001852.4(COL9A2):c.1665G>A (p.Met555Ile)	COL9A2 (M555I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308297	NM_001852.4(COL9A2):c.1655T>C (p.Val552Ala)	COL9A2 (V552A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312903	NM_001852.4(COL9A2):c.1652C>T (p.Ala551Val)	COL9A2 (A551V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470466	NM_001852.4(COL9A2):c.1637G>A (p.Arg546Gln)	COL9A2 (R546Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371644	NM_001852.4(COL9A2):c.1636C>T (p.Arg546Trp)	COL9A2 (R546W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081839	NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr)	COL9A2 (A541T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1167800	NM_001852.4(COL9A2):c.1604-26CTCC[7]	COL9A2	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 1307268	NM_001852.4(COL9A2):c.1604-3C>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 777748	NM_001852.4(COL9A2):c.1604-26CTCC[5]	COL9A2	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 196621	NM_001852.4(COL9A2):c.1604-26CTCC[4]	COL9A2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1632089	NM_001852.4(COL9A2):c.1604-8_1604-7insCTCT	COL9A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 679554	NM_001852.4(COL9A2):c.1604-44C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677892	NM_001852.4(COL9A2):c.1604-144G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234866	NM_001852.4(COL9A2):c.1603+76G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200814	NM_001852.4(COL9A2):c.1603+1G>A	COL9A2	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 297295	NM_001852.4(COL9A2):c.1599G>T (p.Leu533=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1304128	NM_001852.4(COL9A2):c.1585G>A (p.Ala529Thr)	COL9A2 (A529T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196169	NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	COL9A2 (V526M)	Single nucleotide variant (missense variant)	Stickler syndrome, type 5 +1 more	GConflicting classifications of pathogenicity
Select item 2854375	NM_001852.4(COL9A2):c.1575C>G (p.Ile525Met)	COL9A2 (I525M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305906	NM_001852.4(COL9A2):c.1569G>C (p.Gln523His)	COL9A2 (Q523H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304207	NM_001852.4(COL9A2):c.1553G>T (p.Arg518Leu)	COL9A2 (R518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196171	NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1194708	NM_001852.4(COL9A2):c.1548+155C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258376	NM_001852.4(COL9A2):c.1548+28C>A	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258375	NM_001852.4(COL9A2):c.1548+17G>C	COL9A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1312164	NM_001852.4(COL9A2):c.1511G>A (p.Arg504Gln)	COL9A2 (R504Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064932	NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)	COL9A2 (R504*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1194069	NM_001852.4(COL9A2):c.1506del (p.Asn503fs)	COL9A2 (N503fs)	Deletion (frameshift variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GPathogenic/Likely pathogenic
Select item 817792	NM_001852.4(COL9A2):c.1485dup (p.Gly496fs)	COL9A2 (G496fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1007311	NM_001852.4(COL9A2):c.1485del (p.Gly496fs)	COL9A2 (G496fs)	Deletion (frameshift variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1119334	NM_001852.4(COL9A2):c.1480C>T (p.Pro494Ser)	COL9A2 (P494S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 875262	NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr)	COL9A2 (P492T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1704871	NM_001852.4(COL9A2):c.1447G>A (p.Ala483Thr)	COL9A2 (A483T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195111	NM_001852.4(COL9A2):c.1421C>T (p.Pro474Leu)	COL9A2 (P474L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432976	NM_001852.4(COL9A2):c.1421C>A (p.Pro474His)	COL9A2 (P474H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250625	NM_001852.4(COL9A2):c.1402-61C>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270451	NM_001852.4(COL9A2):c.1401+44_1401+45insCCCCTCCCTTCTCCCGGCC	COL9A2	Microsatellite (intron variant)	not provided	GBenign
Select item 507580	NM_001852.4(COL9A2):c.1401+13C>T	COL9A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 297297	NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	COL9A2 (Q467R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GConflicting classifications of pathogenicity
Select item 3368884	NM_001852.4(COL9A2):c.1396G>A (p.Gly466Arg)	COL9A2 (G466R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258374	NM_001852.4(COL9A2):c.1368+16A>G	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258373	NM_001852.4(COL9A2):c.1368+12G>A	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 450578	NM_001852.4(COL9A2):c.1345C>T (p.Leu449Phe)	COL9A2 (L449F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343598	NM_001852.4(COL9A2):c.1330C>T (p.Pro444Ser)	COL9A2 (P444S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486633	NM_001852.4(COL9A2):c.1324-4_1324-3delinsAA	COL9A2	Indel (intron variant)	not provided	GUncertain significance
Select item 679481	NM_001852.4(COL9A2):c.1323+24C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513039	NM_001852.4(COL9A2):c.1323+19G>A	COL9A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258371	NM_001852.4(COL9A2):c.1323+18T>G	COL9A2	Single nucleotide variant (intron variant)	Stickler syndrome, type 5 +3 more	GBenign/Likely benign
Select item 1305905	NM_001852.4(COL9A2):c.1310C>G (p.Pro437Arg)	COL9A2 (P437R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466444	NM_001852.4(COL9A2):c.1306G>A (p.Gly436Arg)	COL9A2 (G436R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258370	NM_001852.4(COL9A2):c.1288-12C>T	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1224785	NM_001852.4(COL9A2):c.1287+82G>A	COL9A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680402	NM_001852.4(COL9A2):c.1287+5C>T	COL9A2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 875263	NM_001852.4(COL9A2):c.1282G>C (p.Asp428His)	COL9A2 (D428H)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GUncertain significance
Select item 1486985	NM_001852.4(COL9A2):c.1273G>C (p.Val425Leu)	COL9A2 (V425L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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