ClinVar for Gene (Select 1310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268597	NM_001858.6(COL19A1):c.1235G>T (p.Gly412Val)	COL19A1 (G412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268596	NM_001858.6(COL19A1):c.2845A>C (p.Lys949Gln)	COL19A1 (K949Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268595	NM_001858.6(COL19A1):c.1754G>T (p.Ser585Ile)	COL19A1 (S585I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268594	NM_001858.6(COL19A1):c.3302C>T (p.Ala1101Val)	COL19A1 (A1101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268593	NM_001858.6(COL19A1):c.830C>G (p.Ala277Gly)	COL19A1 (A277G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268592	NM_001858.6(COL19A1):c.3320C>T (p.Ser1107Leu)	COL19A1 (S1107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268591	NM_001858.6(COL19A1):c.3326G>A (p.Gly1109Asp)	COL19A1 (G1109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268590	NM_001858.6(COL19A1):c.2383G>A (p.Gly795Arg)	COL19A1 (G795R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268589	NM_001858.6(COL19A1):c.1033C>G (p.Gln345Glu)	COL19A1 (Q345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147347	NM_001858.6(COL19A1):c.883G>A (p.Gly295Arg)	COL19A1 (G295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147346	NM_001858.6(COL19A1):c.838G>C (p.Glu280Gln)	COL19A1 (E280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147345	NM_001858.6(COL19A1):c.711A>G (p.Ile237Met)	COL19A1 (I237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147344	NM_001858.6(COL19A1):c.52C>A (p.Leu18Ile)	COL19A1 (L18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147343	NM_001858.6(COL19A1):c.454G>A (p.Asp152Asn)	COL19A1 (D152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147342	NM_001858.6(COL19A1):c.3385C>T (p.Leu1129Phe)	COL19A1 (L1129F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147341	NM_001858.6(COL19A1):c.3328G>A (p.Ala1110Thr)	COL19A1 (A1110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147340	NM_001858.6(COL19A1):c.3262A>G (p.Ile1088Val)	COL19A1 (I1088V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147339	NM_001858.6(COL19A1):c.3167C>G (p.Pro1056Arg)	COL19A1 (P1056R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147337	NM_001858.6(COL19A1):c.2873C>T (p.Pro958Leu)	COL19A1 (P958L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147336	NM_001858.6(COL19A1):c.2711C>T (p.Pro904Leu)	COL19A1 (P904L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147335	NM_001858.6(COL19A1):c.2630G>A (p.Arg877Gln)	COL19A1 (R877Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147334	NM_001858.6(COL19A1):c.2584A>G (p.Met862Val)	COL19A1 (M862V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147333	NM_001858.6(COL19A1):c.2375G>T (p.Gly792Val)	COL19A1 (G792V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147332	NM_001858.6(COL19A1):c.2126A>G (p.Asn709Ser)	COL19A1 (N709S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147331	NM_001858.6(COL19A1):c.1907C>A (p.Pro636Gln)	COL19A1 (P636Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147330	NM_001858.6(COL19A1):c.1439G>C (p.Gly480Ala)	COL19A1 (G480A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147329	NM_001858.6(COL19A1):c.1316G>A (p.Gly439Asp)	COL19A1 (G439D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147328	NM_001858.6(COL19A1):c.1267C>A (p.Pro423Thr)	COL19A1 (P423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147327	NM_001858.6(COL19A1):c.1205C>G (p.Pro402Arg)	COL19A1 (P402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147326	NM_001858.6(COL19A1):c.1156C>A (p.Pro386Thr)	COL19A1 (P386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656687	NM_001858.6(COL19A1):c.2862T>C (p.Asp954=)	COL19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624396	NM_001858.6(COL19A1):c.1475G>A (p.Gly492Glu)	COL19A1 (G492E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615501	NM_001858.6(COL19A1):c.677A>T (p.His226Leu)	COL19A1 (H226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612455	NM_001858.6(COL19A1):c.700G>T (p.Ala234Ser)	COL19A1 (A234S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610389	NM_001858.6(COL19A1):c.3392C>T (p.Pro1131Leu)	COL19A1 (P1131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605653	NM_001858.6(COL19A1):c.2063T>C (p.Ile688Thr)	COL19A1 (I688T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599569	NM_001858.6(COL19A1):c.869A>G (p.Asn290Ser)	COL19A1 (N290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597938	NM_001858.6(COL19A1):c.2772G>C (p.Lys924Asn)	COL19A1 (K924N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597910	NM_001858.6(COL19A1):c.3344G>A (p.Gly1115Asp)	COL19A1 (G1115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597802	NM_001858.6(COL19A1):c.2030G>C (p.Gly677Ala)	COL19A1 (G677A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544379	NM_001858.6(COL19A1):c.2674C>A (p.Pro892Thr)	COL19A1 (P892T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539850	NM_001858.6(COL19A1):c.1831C>A (p.Pro611Thr)	COL19A1 (P611T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525822	NM_001858.6(COL19A1):c.1855G>A (p.Asp619Asn)	COL19A1 (D619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523383	NM_001858.6(COL19A1):c.3062A>G (p.Tyr1021Cys)	COL19A1 (Y1021C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492036	NM_001858.6(COL19A1):c.3136G>A (p.Ala1046Thr)	COL19A1 (A1046T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490372	NM_001858.6(COL19A1):c.1421G>T (p.Gly474Val)	COL19A1 (G474V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481688	NM_001858.6(COL19A1):c.2229G>C (p.Glu743Asp)	COL19A1 (E743D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480359	NM_001858.6(COL19A1):c.70G>A (p.Val24Met)	COL19A1 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475658	NM_001858.6(COL19A1):c.2921G>A (p.Gly974Asp)	COL19A1 (G974D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475634	NM_001858.6(COL19A1):c.749G>T (p.Cys250Phe)	COL19A1 (C250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475506	NM_001858.6(COL19A1):c.1172G>T (p.Gly391Val)	COL19A1 (G391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471864	NM_001858.6(COL19A1):c.1118G>A (p.Gly373Asp)	COL19A1 (G373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467571	NM_001858.6(COL19A1):c.506G>A (p.Arg169His)	COL19A1 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463363	NM_001858.6(COL19A1):c.2333C>T (p.Pro778Leu)	COL19A1 (P778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461170	NM_001858.6(COL19A1):c.2321G>A (p.Gly774Asp)	COL19A1 (G774D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411873	NM_001858.6(COL19A1):c.200G>A (p.Arg67His)	COL19A1 (R67H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400463	NM_001858.6(COL19A1):c.2545C>A (p.Pro849Thr)	COL19A1 (P849T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396103	NM_001858.6(COL19A1):c.2065G>A (p.Gly689Ser)	COL19A1 (G689S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395355	NM_001858.6(COL19A1):c.3360T>A (p.Ser1120Arg)	COL19A1 (S1120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387126	NM_001858.6(COL19A1):c.1987G>A (p.Val663Ile)	COL19A1 (V663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382578	NM_001858.6(COL19A1):c.2198C>A (p.Pro733Gln)	COL19A1 (P733Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382577	NM_001858.6(COL19A1):c.1937G>A (p.Arg646Gln)	COL19A1 (R646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372835	NM_001858.6(COL19A1):c.935C>T (p.Pro312Leu)	COL19A1 (P312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371718	NM_001858.6(COL19A1):c.2878G>A (p.Asp960Asn)	COL19A1 (D960N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364441	NM_001858.6(COL19A1):c.2946G>A (p.Met982Ile)	COL19A1 (M982I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363017	NM_001858.6(COL19A1):c.1444C>A (p.Pro482Thr)	COL19A1 (P482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361166	NM_001858.6(COL19A1):c.3054A>G (p.Ile1018Met)	COL19A1 (I1018M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358482	NM_001858.6(COL19A1):c.2729T>C (p.Val910Ala)	COL19A1 (V910A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350153	NM_001858.6(COL19A1):c.1442A>T (p.Glu481Val)	COL19A1 (E481V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344460	NM_001858.6(COL19A1):c.3251G>A (p.Gly1084Asp)	COL19A1 (G1084D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339542	NM_001858.6(COL19A1):c.862A>G (p.Ile288Val)	COL19A1 (I288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325432	NM_001858.6(COL19A1):c.1717C>T (p.Pro573Ser)	COL19A1 (P573S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304655	NM_001858.6(COL19A1):c.2521C>G (p.Pro841Ala)	COL19A1 (P841A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288435	NM_001858.6(COL19A1):c.1217G>A (p.Gly406Asp)	COL19A1 (G406D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285142	NM_001858.6(COL19A1):c.1079A>G (p.Asn360Ser)	COL19A1 (N360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282721	NM_001858.6(COL19A1):c.1310C>T (p.Thr437Ile)	COL19A1 (T437I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282446	NM_001858.6(COL19A1):c.2110C>T (p.Pro704Ser)	COL19A1 (P704S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270300	NM_001858.6(COL19A1):c.2073G>T (p.Leu691Phe)	COL19A1 (L691F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268779	NM_001858.6(COL19A1):c.924T>G (p.His308Gln)	COL19A1 (H308Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265401	NM_001858.6(COL19A1):c.397A>G (p.Ile133Val)	COL19A1 (I133V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258996	NM_001858.6(COL19A1):c.2050C>T (p.Leu684Phe)	COL19A1 (L684F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255737	NM_001858.6(COL19A1):c.1843G>A (p.Gly615Ser)	COL19A1 (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239068	NM_001858.6(COL19A1):c.1699A>G (p.Ile567Val)	COL19A1 (I567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236615	NM_001858.6(COL19A1):c.880G>A (p.Ala294Thr)	COL19A1 (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218725	NM_001858.6(COL19A1):c.1496T>C (p.Val499Ala)	COL19A1 (V499A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216537	NM_001858.6(COL19A1):c.1300A>C (p.Ile434Leu)	COL19A1 (I434L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807976	GRCh37/hg19 6q13(chr6:70320224-71568417)x3	COL19A1, COL9A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1456629	NC_000006.11:g.(?_70386050)_(71012627_?)del	COL19A1, COL9A1 +1 more	Deletion	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1295067	NM_001858.6(COL19A1):c.166+160dup	COL19A1	Duplication (intron variant)	not provided	GBenign
Select item 1291753	NM_001858.6(COL19A1):c.3027+18G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290355	NM_001858.6(COL19A1):c.2856+231G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289985	NM_001858.6(COL19A1):c.3223+95T>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289451	NM_001858.6(COL19A1):c.2857-292=	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289000	NM_001858.6(COL19A1):c.1081-295G>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288863	NM_001858.6(COL19A1):c.1816-46G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288545	NM_001858.6(COL19A1):c.1026+65A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288496	NM_001858.6(COL19A1):c.747+263A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign

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