"Ambry Genetics"[submitter] AND "COL9A3"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235240	NM_001853.4(COL9A3):c.5C>A (p.Ala2Asp)	COL9A3 (A2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1464984	NM_001853.4(COL9A3):c.25C>T (p.Pro9Ser)	COL9A3 (P9S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1218322	NM_001853.4(COL9A3):c.86G>T (p.Gly29Val)	COL9A3 (G29V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1201263	NM_001853.4(COL9A3):c.194G>A (p.Gly65Glu)	COL9A3 (G65E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1314117	NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu)	COL9A3 (P73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1482330	NM_001853.4(COL9A3):c.230G>A (p.Gly77Glu)	COL9A3 (G77E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804596	NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)	COL9A3 (P82L)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1358241	NM_001853.4(COL9A3):c.269G>A (p.Arg90Gln)	COL9A3 (R90Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2413041	NM_001853.4(COL9A3):c.287C>A (p.Pro96His)	COL9A3 (P96H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1202292	NM_001853.4(COL9A3):c.326C>T (p.Pro109Leu)	COL9A3 (P109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1465298	NM_001853.4(COL9A3):c.368C>G (p.Pro123Arg)	COL9A3 (P123R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147838	NM_001853.4(COL9A3):c.395C>A (p.Pro132Gln)	COL9A3 (P132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1088772	NM_001853.4(COL9A3):c.413G>A (p.Arg138His)	COL9A3 (R138H)	Single nucleotide variant (missense variant)	COL9A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2225247	NM_001853.4(COL9A3):c.457C>T (p.Pro153Ser)	COL9A3 (P153S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912105	NM_001853.4(COL9A3):c.488G>A (p.Gly163Glu)	COL9A3 (G163E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2247336	NM_001853.4(COL9A3):c.548C>T (p.Pro183Leu)	COL9A3 (P183L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064975	NM_001853.4(COL9A3):c.583A>G (p.Thr195Ala)	COL9A3 (T195A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2335852	NM_001853.4(COL9A3):c.634G>A (p.Asp212Asn)	COL9A3 (D212N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276141	NM_001853.4(COL9A3):c.637C>G (p.Pro213Ala)	COL9A3 (P213A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518400	NM_001853.4(COL9A3):c.665C>G (p.Pro222Arg)	COL9A3 (P222R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326652	NM_001853.4(COL9A3):c.665C>T (p.Pro222Leu)	COL9A3 (P222L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1509094	NM_001853.4(COL9A3):c.700C>G (p.Arg234Gly)	COL9A3 (R234G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632378	NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter)	COL9A3 (R234*)	Single nucleotide variant (nonsense)	Epiphyseal dysplasia, multiple, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1053405	NM_001853.4(COL9A3):c.715C>A (p.Pro239Thr)	COL9A3 (P239T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521579	NM_001853.4(COL9A3):c.722G>C (p.Gly241Ala)	COL9A3 (G241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147840	NM_001853.4(COL9A3):c.830G>A (p.Gly277Asp)	COL9A3 (G277D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1991640	NM_001853.4(COL9A3):c.883G>A (p.Gly295Arg)	COL9A3 (G295R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1956113	NM_001853.4(COL9A3):c.967C>T (p.Arg323Cys)	COL9A3 (R323C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2484208	NM_001853.4(COL9A3):c.973G>C (p.Gly325Arg)	COL9A3 (G325R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2548520	NM_001853.4(COL9A3):c.992G>T (p.Gly331Val)	COL9A3 (G331V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1209182	NM_001853.4(COL9A3):c.1007C>T (p.Pro336Leu)	COL9A3 (P336L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1204401	NM_001853.4(COL9A3):c.1133G>A (p.Arg378His)	COL9A3 (R378H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1172686	NM_001853.4(COL9A3):c.1150C>T (p.Arg384Trp)	COL9A3 (R384W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147836	NM_001853.4(COL9A3):c.1153G>T (p.Gly385Cys)	COL9A3 (G385C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375798	NM_001853.4(COL9A3):c.1160C>T (p.Ala387Val)	COL9A3 (A387V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 339288	NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu)	COL9A3 (Q420E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300865	NM_001853.4(COL9A3):c.1285C>T (p.Arg429Trp)	COL9A3 (R429W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1147621	NM_001853.4(COL9A3):c.1292C>T (p.Pro431Leu)	COL9A3 (P431L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2553486	NM_001853.4(COL9A3):c.1300G>A (p.Ala434Thr)	COL9A3 (A434T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3147837	NM_001853.4(COL9A3):c.1310C>G (p.Pro437Arg)	COL9A3 (P437R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1190876	NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn)	COL9A3 (D447N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 520722	NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter)	COL9A3, LOC126863084 (R471*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 689615	NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del)	COL9A3, LOC126863084	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1307863	NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser)	COL9A3, LOC126863084 (G484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1115961	NM_001853.4(COL9A3):c.1529C>T (p.Thr510Met)	LOC126863084, COL9A3 (T510M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1940132	NM_001853.4(COL9A3):c.1564G>A (p.Glu522Lys)	COL9A3, LOC126863084 (E522K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1367424	NM_001853.4(COL9A3):c.1573A>G (p.Ile525Val)	COL9A3, LOC126863084 (I525V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 258416	NM_001853.4(COL9A3):c.1621G>A (p.Ala541Thr)	COL9A3 (A541T)	Single nucleotide variant (missense variant)	COL9A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1534553	NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr)	COL9A3 (A542T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2196320	NM_001853.4(COL9A3):c.1625C>T (p.Ala542Val)	COL9A3 (A542V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1215222	NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp)	COL9A3 (R555W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1405450	NM_001853.4(COL9A3):c.1688G>A (p.Gly563Glu)	COL9A3 (G563E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2228367	NM_001853.4(COL9A3):c.1691C>T (p.Pro564Leu)	COL9A3 (P564L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285432	NM_001853.4(COL9A3):c.1694C>T (p.Pro565Leu)	COL9A3 (P565L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1636664	NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln)	COL9A3 (R577Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1573036	NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr)	COL9A3 (P579T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 339305	NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)	COL9A3 (T586P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3013876	NM_001853.4(COL9A3):c.1828G>A (p.Gly610Arg)	COL9A3 (G610R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2233032	NM_001853.4(COL9A3):c.1840C>T (p.Pro614Ser)	COL9A3 (P614S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277436	NM_001853.4(COL9A3):c.1886C>A (p.Thr629Asn)	COL9A3 (T629N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1192049	NM_001853.4(COL9A3):c.1958T>C (p.Ile653Thr)	COL9A3 (I653T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1415010	NM_001853.4(COL9A3):c.2049C>G (p.Ser683Arg)	COL9A3 (S683R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 62