COL19A1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 195

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 148992	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4	ADGRB3, COL19A1 +35 more	Copy number gain	See cases	GPathogenic
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 2480359	NM_001858.6(COL19A1):c.70G>A (p.Val24Met)	COL19A1 (V24M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232931	NM_001858.6(COL19A1):c.91+80G>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232646	NM_001858.6(COL19A1):c.91+161T>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272189	NM_001858.6(COL19A1):c.91+173A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295067	NM_001858.6(COL19A1):c.166+160dup	COL19A1	Duplication (intron variant)	not provided	GBenign
Select item 1251729	NM_001858.6(COL19A1):c.166+168G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237942	NM_001858.6(COL19A1):c.166+241C>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1248940	NM_001858.6(COL19A1):c.266+53C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179345	NM_001858.6(COL19A1):c.391-269AC[18]	COL19A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1271148	NM_001858.6(COL19A1):c.391-269AC[12]	COL19A1	Microsatellite (intron variant)	not provided	GBenign
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 3147343	NM_001858.6(COL19A1):c.454G>A (p.Asp152Asn)	COL19A1 (D152N)	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 1257344	NM_001858.6(COL19A1):c.666+305A>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259111	NM_001858.6(COL19A1):c.667-53T>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174254	NM_001858.6(COL19A1):c.667-15C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3147345	NM_001858.6(COL19A1):c.711A>G (p.Ile237Met)	COL19A1 (I237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288496	NM_001858.6(COL19A1):c.747+263A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3268593	NM_001858.6(COL19A1):c.830C>G (p.Ala277Gly)	COL19A1 (A277G)	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 2339542	NM_001858.6(COL19A1):c.862A>G (p.Ile288Val)	COL19A1 (I288V)	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 1248005	NM_001858.6(COL19A1):c.874-276C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3147347	NM_001858.6(COL19A1):c.883G>A (p.Gly295Arg)	COL19A1 (G295R)	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 2372835	NM_001858.6(COL19A1):c.935C>T (p.Pro312Leu)	COL19A1 (P312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250943	NM_001858.6(COL19A1):c.936+119A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282316	NM_001858.6(COL19A1):c.982-177T>C	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 1287075	NM_001858.6(COL19A1):c.1026+140C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267636	NM_001858.6(COL19A1):c.1027-305G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1265719	NM_001858.6(COL19A1):c.1055C>G (p.Ala352Gly)	COL19A1 (A352G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1232232	NM_001858.6(COL19A1):c.1080+144G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155176	GRCh38/hg38 6q13(chr6:70026943-70923391)x3	B3GAT2, COL19A1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 1289000	NM_001858.6(COL19A1):c.1081-295G>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1280955	NM_001858.6(COL19A1):c.1134+74G>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273198	NM_001858.6(COL19A1):c.1134+211G>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270311	NM_001858.6(COL19A1):c.1135-100A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1257497	NM_001858.6(COL19A1):c.1170+147A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238301	NM_001858.6(COL19A1):c.1170+267A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235632	NM_001858.6(COL19A1):c.1171-18G>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3147327	NM_001858.6(COL19A1):c.1205C>G (p.Pro402Arg)	COL19A1 (P402R)	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 1247221	NM_001858.6(COL19A1):c.1224+10G>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227187	NM_001858.6(COL19A1):c.1224+11C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243143	NM_001858.6(COL19A1):c.1224+113T>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3147328	NM_001858.6(COL19A1):c.1267C>A (p.Pro423Thr)	COL19A1 (P423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287783	NM_001858.6(COL19A1):c.1278+9A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272848	NM_001858.6(COL19A1):c.1278+159A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2282721	NM_001858.6(COL19A1):c.1310C>T (p.Thr437Ile)	COL19A1 (T437I)	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 1267933	NM_001858.6(COL19A1):c.1383+9A>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252639	NM_001858.6(COL19A1):c.1383+158T>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183144	NM_001858.6(COL19A1):c.1383+172A>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279256	NM_001858.6(COL19A1):c.1383+227T>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249357	NM_001858.6(COL19A1):c.1384-192C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3147330	NM_001858.6(COL19A1):c.1439G>C (p.Gly480Ala)	COL19A1 (G480A)	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 2363017	NM_001858.6(COL19A1):c.1444C>A (p.Pro482Thr)	COL19A1 (P482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2218725	NM_001858.6(COL19A1):c.1496T>C (p.Val499Ala)	COL19A1 (V499A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250659	NM_001858.6(COL19A1):c.1572+105C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280445	NM_001858.6(COL19A1):c.1573-166A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228206	NM_001858.6(COL19A1):c.1626+129A>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271505	NM_001858.6(COL19A1):c.1680+28A>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264446	NM_001858.6(COL19A1):c.1681-74T>C	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238167	NM_001858.6(COL19A1):c.1689G>A (p.Pro563=)	COL19A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2325432	NM_001858.6(COL19A1):c.1717C>T (p.Pro573Ser)	COL19A1 (P573S)	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 1233258	NM_001858.6(COL19A1):c.1770+272T>A	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278095	NM_001858.6(COL19A1):c.1771-15C>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286651	NM_001858.6(COL19A1):c.1816-47T>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 2539850	NM_001858.6(COL19A1):c.1831C>A (p.Pro611Thr)	COL19A1 (P611T)	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 2525822	NM_001858.6(COL19A1):c.1855G>A (p.Asp619Asn)	COL19A1 (D619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281492	NM_001858.6(COL19A1):c.1893+227G>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255156	NM_001858.6(COL19A1):c.1894-109A>T	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2382577	NM_001858.6(COL19A1):c.1937G>A (p.Arg646Gln)	COL19A1 (R646Q)	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 2597802	NM_001858.6(COL19A1):c.2030G>C (p.Gly677Ala)	COL19A1 (G677A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251459	NM_001858.6(COL19A1):c.2038-154T>G	COL19A1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2