ClinVar for Gene (Select 255631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147485	NM_152890.7(COL24A1):c.91G>A (p.Ala31Thr)	COL24A1 (A31T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3147484	NM_152890.7(COL24A1):c.809C>T (p.Pro270Leu)	COL24A1 (P270L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3147483	NM_152890.7(COL24A1):c.745C>A (p.Gln249Lys)	COL24A1 (Q249K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3147482	NM_152890.7(COL24A1):c.508A>G (p.Ile170Val)	COL24A1 (I170V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3147481	NM_152890.7(COL24A1):c.502A>G (p.Ile168Val)	COL24A1 (I168V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3147480	NM_152890.7(COL24A1):c.4967T>G (p.Leu1656Arg)	COL24A1 (L1656R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147478	NM_152890.7(COL24A1):c.44C>T (p.Pro15Leu)	COL24A1 (P15L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3147477	NM_152890.7(COL24A1):c.4414C>T (p.Pro1472Ser)	COL24A1 (P772S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147476	NM_152890.7(COL24A1):c.4255T>C (p.Ser1419Pro)	COL24A1 (S719P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147475	NM_152890.7(COL24A1):c.4145A>T (p.Asp1382Val)	COL24A1 (D1382V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147474	NM_152890.7(COL24A1):c.3964G>A (p.Gly1322Ser)	COL24A1 (G622S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3147473	NM_152890.7(COL24A1):c.3874A>G (p.Ile1292Val)	COL24A1 (I1292V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147472	NM_152890.7(COL24A1):c.3572G>T (p.Gly1191Val)	COL24A1 (G1191V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147471	NM_152890.7(COL24A1):c.3523C>G (p.Gln1175Glu)	COL24A1 (Q1175E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147470	NM_152890.7(COL24A1):c.2644G>C (p.Gly882Arg)	COL24A1 (G182R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147469	NM_152890.7(COL24A1):c.2605A>G (p.Ile869Val)	COL24A1 (I869V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147468	NM_152890.7(COL24A1):c.2550A>C (p.Lys850Asn)	COL24A1 (K850N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147467	NM_152890.7(COL24A1):c.2399C>T (p.Pro800Leu)	COL24A1 (P100L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147465	NM_152890.7(COL24A1):c.1732C>T (p.Pro578Ser)	COL24A1 (P578S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3147464	NM_152890.7(COL24A1):c.1694T>G (p.Met565Arg)	COL24A1 (M565R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3024926	NM_152890.7(COL24A1):c.3789+6T>C	COL24A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638907	NM_152890.7(COL24A1):c.4155G>A (p.Leu1385=)	COL24A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621044	NM_152890.7(COL24A1):c.4738A>C (p.Ser1580Arg)	COL24A1 (S1580R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559578	NM_152890.7(COL24A1):c.4308A>C (p.Arg1436Ser)	COL24A1 (R736S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554402	NM_152890.7(COL24A1):c.3753G>T (p.Gln1251His)	COL24A1 (Q551H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541045	NM_152890.7(COL24A1):c.4160G>A (p.Gly1387Glu)	COL24A1 (G1387E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534035	NM_152890.7(COL24A1):c.4877C>T (p.Pro1626Leu)	COL24A1 (P926L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516499	NM_152890.7(COL24A1):c.4112G>A (p.Arg1371Gln)	COL24A1 (R1371Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513425	NM_152890.7(COL24A1):c.3290C>T (p.Thr1097Ile)	COL24A1 (T1097I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493490	NM_152890.7(COL24A1):c.872C>A (p.Pro291Gln)	COL24A1 (P291Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492420	NM_152890.7(COL24A1):c.1552C>G (p.Pro518Ala)	COL24A1 (P518A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2483555	NM_152890.7(COL24A1):c.1298A>G (p.His433Arg)	COL24A1 (H433R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2479770	NM_152890.7(COL24A1):c.3313A>G (p.Ile1105Val)	COL24A1 (I1105V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466855	NM_152890.7(COL24A1):c.3461T>C (p.Val1154Ala)	COL24A1 (V1154A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411941	NM_152890.7(COL24A1):c.3602G>A (p.Gly1201Glu)	COL24A1 (G501E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406595	NM_152890.7(COL24A1):c.4459G>A (p.Ala1487Thr)	COL24A1 (A787T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404853	NM_152890.7(COL24A1):c.3128C>T (p.Pro1043Leu)	COL24A1 (P1043L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395832	NM_152890.7(COL24A1):c.3839T>C (p.Ile1280Thr)	COL24A1 (I1280T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394323	NM_152890.7(COL24A1):c.3928C>G (p.Pro1310Ala)	COL24A1 (P610A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387090	NM_152890.7(COL24A1):c.4454A>G (p.Asn1485Ser)	COL24A1 (N1485S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384257	NM_152890.7(COL24A1):c.800A>G (p.His267Arg)	COL24A1 (H267R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2383868	NM_152890.7(COL24A1):c.3667G>A (p.Ala1223Thr)	COL24A1 (A1223T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378410	NM_152890.7(COL24A1):c.4217C>T (p.Pro1406Leu)	COL24A1 (P1406L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376840	NM_152890.7(COL24A1):c.298G>A (p.Val100Ile)	COL24A1 (V100I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2362771	NM_152890.7(COL24A1):c.4328C>A (p.Thr1443Lys)	COL24A1 (T1443K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361538	NM_152890.7(COL24A1):c.2225C>T (p.Pro742Leu)	COL24A1 (P42L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356736	NM_152890.7(COL24A1):c.1064G>A (p.Arg355His)	COL24A1 (R355H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2355798	NM_152890.7(COL24A1):c.163G>C (p.Val55Leu)	COL24A1 (V55L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2351362	NM_152890.7(COL24A1):c.2222G>T (p.Gly741Val)	COL24A1 (G41V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350921	NM_152890.7(COL24A1):c.914A>G (p.Gln305Arg)	COL24A1 (Q305R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2339239	NM_152890.7(COL24A1):c.2045T>G (p.Leu682Arg)	COL24A1 (L682R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2332754	NM_152890.7(COL24A1):c.1219A>T (p.Asn407Tyr)	COL24A1 (N407Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2332384	NM_152890.7(COL24A1):c.3079G>C (p.Ala1027Pro)	COL24A1 (A1027P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319343	NM_152890.7(COL24A1):c.4438A>G (p.Lys1480Glu)	COL24A1 (K1480E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315449	NM_152890.7(COL24A1):c.2780G>C (p.Gly927Ala)	COL24A1 (G227A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315253	NM_152890.7(COL24A1):c.1924G>A (p.Gly642Arg)	COL24A1 (G642R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2314493	NM_152890.7(COL24A1):c.4768G>C (p.Val1590Leu)	COL24A1 (V1590L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314203	NM_152890.7(COL24A1):c.782C>T (p.Pro261Leu)	COL24A1 (P261L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2309340	NM_152890.7(COL24A1):c.862A>G (p.Lys288Glu)	COL24A1 (K288E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2306887	NM_152890.7(COL24A1):c.3847C>T (p.Leu1283Phe)	COL24A1 (L1283F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303559	NM_152890.7(COL24A1):c.4558A>T (p.Thr1520Ser)	COL24A1 (T820S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303557	NM_152890.7(COL24A1):c.2893C>T (p.Pro965Ser)	COL24A1 (P265S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289668	NM_152890.7(COL24A1):c.1816G>A (p.Gly606Arg)	COL24A1 (G606R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2264296	NM_152890.7(COL24A1):c.2255C>T (p.Ser752Leu)	COL24A1 (S52L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260985	NM_152890.7(COL24A1):c.5117T>C (p.Ile1706Thr)	COL24A1 (I1006T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260965	NM_152890.7(COL24A1):c.2030C>T (p.Pro677Leu)	COL24A1 (P677L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2260288	NM_152890.7(COL24A1):c.5128T>A (p.Ser1710Thr)	COL24A1 (S1010T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258545	NM_152890.7(COL24A1):c.344A>G (p.His115Arg)	COL24A1 (H115R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2250680	NM_152890.7(COL24A1):c.3115G>A (p.Gly1039Arg)	COL24A1 (G1039R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235115	NM_152890.7(COL24A1):c.4718T>C (p.Ile1573Thr)	COL24A1 (I1573T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234945	NM_152890.7(COL24A1):c.4720G>A (p.Glu1574Lys)	COL24A1 (E1574K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233648	NM_152890.7(COL24A1):c.3410G>C (p.Gly1137Ala)	COL24A1 (G1137A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231070	NM_152890.7(COL24A1):c.854C>T (p.Thr285Ile)	COL24A1 (T285I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2227885	NM_152890.7(COL24A1):c.2861G>C (p.Gly954Ala)	COL24A1 (G954A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219269	NM_152890.7(COL24A1):c.2623C>T (p.Arg875Cys)	COL24A1 (R175C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218772	NM_152890.7(COL24A1):c.2258G>A (p.Gly753Asp)	COL24A1 (G53D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213957	NM_152890.7(COL24A1):c.1544G>A (p.Arg515Gln)	COL24A1 (R515Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2212979	NM_152890.7(COL24A1):c.1384G>A (p.Glu462Lys)	COL24A1 (E462K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2210610	NM_152890.7(COL24A1):c.1690G>A (p.Gly564Ser)	COL24A1 (G564S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2210278	NM_152890.7(COL24A1):c.3461T>A (p.Val1154Glu)	COL24A1 (V1154E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205774	NM_152890.7(COL24A1):c.2738C>T (p.Ala913Val)	COL24A1 (A913V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807925	GRCh37/hg19 1p22.3(chr1:85878203-86849716)x1	CCN1, COL24A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1341227	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1341092	GRCh37/hg19 1p22.3(chr1:86225155-86387725)x1	COL24A1	Copy number loss	not provided	GLikely benign
Select item 985596	NM_152890.7(COL24A1):c.2599G>A (p.Gly867Arg)	COL24A1 (G167R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 979889	GRCh37/hg19 1p22.3(chr1:86225155-86392069)x1	COL24A1	Copy number loss	not provided	GLikely benign
Select item 979888	GRCh37/hg19 1p22.3(chr1:86441405-86925675)x3	ODF2L, CLCA2 +1 more	Copy number gain	not provided	GLikely benign
Select item 783937	NM_152890.7(COL24A1):c.3200C>G (p.Pro1067Arg)	COL24A1 (P1067R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 782379	NM_152890.7(COL24A1):c.2687C>A (p.Pro896His)	COL24A1 (P196H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779856	NM_152890.7(COL24A1):c.664T>C (p.Leu222=)	COL24A1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 712673	NM_152890.7(COL24A1):c.602G>A (p.Ser201Asn)	COL24A1 (S201N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 685649	GRCh37/hg19 1p22.3(chr1:86235427-86827633)x1	COL24A1, ODF2L	Copy number loss	not provided	GUncertain significance
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442811	GRCh37/hg19 1p22.3(chr1:86027015-86606921)x3	CCN1, COL24A1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442548	GRCh37/hg19 1p22.3(chr1:85761564-86703902)x1	CCN1, COL24A1 +2 more	Copy number loss	See cases	GUncertain significance

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