20821[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 148214	GRCh38/hg38 1p22.3(chr1:85662168-86192743)x3	COL24A1, LOC129930879 +8 more	Copy number gain	See cases	GLikely benign
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 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 3495389	NM_152890.7(COL24A1):c.5102A>T (p.Glu1701Val)	COL24A1 (E1001V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3495379	NM_152890.7(COL24A1):c.5083C>T (p.Leu1695Phe)	COL24A1 (L1695F +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 3268667	NM_152890.7(COL24A1):c.4603C>A (p.Leu1535Ile)	COL24A1 (L835I +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 3495373	NM_152890.7(COL24A1):c.4556A>G (p.Lys1519Arg)	COL24A1 (K1519R +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 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 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 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 3495381	NM_152890.7(COL24A1):c.4363A>G (p.Arg1455Gly)	COL24A1 (R755G +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 2638907	NM_152890.7(COL24A1):c.4155G>A (p.Leu1385=)	COL24A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3495372	NM_152890.7(COL24A1):c.4147C>A (p.Pro1383Thr)	COL24A1 (P1383T +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 2516499	NM_152890.7(COL24A1):c.4112G>A (p.Arg1371Gln)	COL24A1 (R1371Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
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 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 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 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 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 3495378	NM_152890.7(COL24A1):c.3824C>G (p.Ser1275Cys)	COL24A1 (S1275C +1 more)	Single nucleotide variant (missense variant +1 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 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 3495376	NM_152890.7(COL24A1):c.3676T>C (p.Tyr1226His)	COL24A1 (Y526H +1 more)	Single nucleotide variant (missense variant +1 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 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 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 3268656	NM_152890.7(COL24A1):c.3482G>A (p.Gly1161Glu)	COL24A1 (G1161E +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 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 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 3495386	NM_152890.7(COL24A1):c.3340C>A (p.Arg1114Ser)	COL24A1 (R1114S +1 more)	Single nucleotide variant (missense variant +1 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 3268657	NM_152890.7(COL24A1):c.3299C>T (p.Pro1100Leu)	COL24A1 (P400L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268659	NM_152890.7(COL24A1):c.3290C>A (p.Thr1097Lys)	COL24A1 (T397K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 3268661	NM_152890.7(COL24A1):c.3049G>A (p.Gly1017Arg)	COL24A1 (G317R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3495380	NM_152890.7(COL24A1):c.2924G>A (p.Gly975Asp)	COL24A1 (G975D +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 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 3268664	NM_152890.7(COL24A1):c.2816G>A (p.Gly939Asp)	COL24A1 (G939D +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 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 3495383	NM_152890.7(COL24A1):c.2729A>C (p.His910Pro)	COL24A1 (H910P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3495384	NM_152890.7(COL24A1):c.2722C>T (p.Pro908Ser)	COL24A1 (P208S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 3268660	NM_152890.7(COL24A1):c.2483G>A (p.Gly828Glu)	COL24A1 (G128E +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 219313	NM_152890.7(COL24A1):c.2341C>T (p.Gln781Ter)	COL24A1 (Q781* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate	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 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 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 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 3495375	NM_152890.7(COL24A1):c.2185G>A (p.Gly729Arg)	COL24A1 (G729R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3495382	NM_152890.7(COL24A1):c.1988G>T (p.Gly663Val)	COL24A1 (G663V)	Single nucleotide variant (5 prime UTR variant +2 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 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 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 3268662	NM_152890.7(COL24A1):c.1693A>G (p.Met565Val)	COL24A1 (M565V)	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 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 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 3268666	NM_152890.7(COL24A1):c.1486C>T (p.Pro496Ser)	COL24A1 (P496S)	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 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 3268665	NM_152890.7(COL24A1):c.1231G>A (p.Ala411Thr)	COL24A1 (A411T)	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 3268668	NM_152890.7(COL24A1):c.1211C>T (p.Thr404Ile)	COL24A1 (T404I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3495385	NM_152890.7(COL24A1):c.1207G>T (p.Asp403Tyr)	COL24A1 (D403Y)	Single nucleotide variant (5 prime UTR variant +2 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 3268663	NM_152890.7(COL24A1):c.1015A>C (p.Thr339Pro)	COL24A1 (T339P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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