"GeneDx"[submitter] AND "COL18A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59035	GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3	ADARB1, BNAT1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 1260681	NC_000021.9:g.45405105_45405137del	BNAT1, COL18A1	Deletion	not provided	GBenign
Select item 1226943	NC_000021.9:g.45405102_45405123del	BNAT1, COL18A1	Deletion	not provided	GBenign
Select item 1263374	NC_000021.9:g.45405102del	BNAT1, COL18A1	Deletion	not provided	GBenign
Select item 1283062	NC_000021.9:g.45405102G>C	BNAT1, COL18A1	Single nucleotide variant	not provided	GBenign
Select item 1272767	NC_000021.9:g.45405107_45405116del	BNAT1, COL18A1	Deletion	not provided	GBenign
Select item 1270891	NC_000021.9:g.45405113G>C	BNAT1, COL18A1	Single nucleotide variant	not provided	GBenign
Select item 1259241	NM_001379500.1(COL18A1):c.11+47_11+54dup	BNAT1, COL18A1	Duplication (intron variant)	not provided	GBenign
Select item 1231149	NM_001379500.1(COL18A1):c.11+55_11+56insCTGCGGGGCTGCGGGGG	BNAT1, COL18A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1289798	NM_001379500.1(COL18A1):c.11+57_11+58insCT	BNAT1, COL18A1	Insertion (intron variant)	not provided	GBenign
Select item 1277646	NM_001379500.1(COL18A1):c.11+58G>C	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268095	NM_001379500.1(COL18A1):c.11+67G>C	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253503	NM_001379500.1(COL18A1):c.12-65C>G	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276294	NM_001379500.1(COL18A1):c.12-60_12-59insTGGGT	BNAT1, COL18A1	Insertion (intron variant)	not provided	GBenign
Select item 1277766	NM_001379500.1(COL18A1):c.12-59C>T	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261044	NM_001379500.1(COL18A1):c.12-59_12-58insCTGCGG	BNAT1, COL18A1	Insertion (intron variant)	not provided	GBenign
Select item 1277042	NM_001379500.1(COL18A1):c.12-42_12-34del	BNAT1, COL18A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247531	NM_001379500.1(COL18A1):c.12-27G>T	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1483679	NM_001379500.1(COL18A1):c.12-7C>A	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1231975	NM_001379500.1(COL18A1):c.107-15088T>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294669	NM_001379500.1(COL18A1):c.107-12962C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047434	NM_001379500.1(COL18A1):c.107-12712G>A	COL18A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 518320	NM_001379500.1(COL18A1):c.107-12592T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1557577	NM_001379500.1(COL18A1):c.107-12491C>T	COL18A1 (A74V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 978155	NM_001379500.1(COL18A1):c.107-12210C>G	COL18A1 (L168V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 447131	NM_001379500.1(COL18A1):c.107-12197G>A	COL18A1 (R172H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 503931	NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT	COL18A1	Indel (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1241910	NM_001379500.1(COL18A1):c.107-11983C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1217343	NM_001379500.1(COL18A1):c.107-11850G>A	COL18A1 (A288T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1306398	NM_001379500.1(COL18A1):c.107-11594G>C	COL18A1 (W373S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1246335	NM_001379500.1(COL18A1):c.107-11576C>T	COL18A1 (T379M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1243652	NM_001379500.1(COL18A1):c.107-11537T>C	COL18A1 (L392P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1304918	NM_001379500.1(COL18A1):c.107-11514G>A	COL18A1 (V400I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678866	NM_001379500.1(COL18A1):c.107-11498C>T	COL18A1 (P405L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1262748	NM_001379500.1(COL18A1):c.107-11487T>C	COL18A1 (C409R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1266524	NM_001379500.1(COL18A1):c.107-11439G>C	COL18A1 (G425R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2413039	NM_001379500.1(COL18A1):c.107-11432G>A	COL18A1 (R427Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452739	NM_001379500.1(COL18A1):c.107-11405C>T	COL18A1 (P436L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283503	NM_001379500.1(COL18A1):c.107-177A>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239385	NM_001379500.1(COL18A1):c.107-168G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1487572	NM_001379500.1(COL18A1):c.221C>G (p.Ala74Gly)	COL18A1 (A489G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186204	NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu)	COL18A1 (M118L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 340193	NM_001379500.1(COL18A1):c.420A>G (p.Thr140=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 340194	NM_001379500.1(COL18A1):c.510A>G (p.Ala170=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340195	NM_001379500.1(COL18A1):c.603C>T (p.Ala201=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 340197	NM_001379500.1(COL18A1):c.613G>A (p.Val205Met)	COL18A1 (V385M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1306397	NM_001379500.1(COL18A1):c.623C>T (p.Ala208Val)	COL18A1 (A208V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 340198	NM_001379500.1(COL18A1):c.624G>A (p.Ala208=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 1244884	NM_001379500.1(COL18A1):c.651+44_651+48del	COL18A1	Deletion (intron variant)	not provided	GBenign
Select item 1286970	NM_001379500.1(COL18A1):c.651+129G>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228302	NM_001379500.1(COL18A1):c.651+149C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248774	NM_001379500.1(COL18A1):c.651+150T>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235171	NM_001379500.1(COL18A1):c.651+179C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261885	NM_001379500.1(COL18A1):c.652-42A>G	COL18A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1233011	NM_001379500.1(COL18A1):c.738+107C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232912	NM_001379500.1(COL18A1):c.798+58G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253437	NM_001379500.1(COL18A1):c.798+73_798+74del	COL18A1	Deletion (intron variant)	not provided	GBenign
Select item 1262796	NM_001379500.1(COL18A1):c.799-212_799-207del	COL18A1	Deletion (intron variant)	not provided	GBenign
Select item 340208	NM_001379500.1(COL18A1):c.828G>A (p.Ala276=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 1721912	NM_001379500.1(COL18A1):c.830C>T (p.Pro277Leu)	COL18A1 (P277L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524047	NM_001379500.1(COL18A1):c.837dup (p.Val280fs)	COL18A1 (V695fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 261886	NM_001379500.1(COL18A1):c.837C>G (p.Pro279=)	COL18A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261887	NM_001379500.1(COL18A1):c.846G>T (p.Thr282=)	COL18A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1481487	NM_001379500.1(COL18A1):c.911C>T (p.Thr304Met)	COL18A1 (T484M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1243485	NM_001379500.1(COL18A1):c.928+64T>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262140	NM_001379500.1(COL18A1):c.928+95T>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283141	NM_001379500.1(COL18A1):c.928+208_928+209del	COL18A1	Deletion (intron variant)	not provided	GBenign
Select item 1230056	NM_001379500.1(COL18A1):c.929-111C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266764	NM_001379500.1(COL18A1):c.929-104C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288363	NM_001379500.1(COL18A1):c.929-72T>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312928	NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp)	COL18A1 (R327W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1461217	NM_001379500.1(COL18A1):c.1043C>T (p.Pro348Leu)	COL18A1 (P528L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261889	NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=)	COL18A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1309417	NM_001379500.1(COL18A1):c.1216G>A (p.Glu406Lys)	COL18A1 (E406K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 340213	NM_001379500.1(COL18A1):c.1221+14T>C	COL18A1	Single nucleotide variant (intron variant)	Knobloch syndrome +1 more	GBenign
Select item 1251918	NM_001379500.1(COL18A1):c.1222-67T>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 340215	NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 1291390	NM_001379500.1(COL18A1):c.1249-144G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290178	NM_001379500.1(COL18A1):c.1249-138G>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238174	NM_001379500.1(COL18A1):c.1249-93T>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1000815	NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser)	COL18A1 (P421S +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +1 more	GUncertain significance
Select item 340216	NM_001379500.1(COL18A1):c.1275C>T (p.Pro425=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 340217	NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 340218	NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 261890	NM_001379500.1(COL18A1):c.1312-37G>A	COL18A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1241925	NM_001379500.1(COL18A1):c.1312-31A>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230273	NM_001379500.1(COL18A1):c.1398+30C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265336	NM_001379500.1(COL18A1):c.1398+144G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263903	NM_001379500.1(COL18A1):c.1399-132C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271746	NM_001379500.1(COL18A1):c.1399-49G>C	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261891	NM_001379500.1(COL18A1):c.1399-48C>G	COL18A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 340221	NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 1291766	NM_001379500.1(COL18A1):c.1453-71G>A	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259420	NM_001379500.1(COL18A1):c.1453-68C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 340222	NM_001379500.1(COL18A1):c.1453-6G>A	COL18A1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1223109	NM_001379500.1(COL18A1):c.1611+84C>T	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225340	NM_001379500.1(COL18A1):c.1611+161A>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261892	NM_001379500.1(COL18A1):c.1674+34A>C	COL18A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1289602	NM_001379500.1(COL18A1):c.1674+124A>G	COL18A1	Single nucleotide variant (intron variant)	not provided	GBenign

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