COL18A1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 3028

<< First< Prev

Page of 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
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 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
Select item 59035	GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3	ADARB1, BNAT1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 150671	GRCh38/hg38 21q22.3(chr21:45165766-45411930)x3	ADARB1, BNAT1 +12 more	Copy number gain	See cases	GLikely benign
Select item 59036	GRCh38/hg38 21q22.3(chr21:45278163-45430994)x3	BNAT1, COL18A1 +11 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 894996	NC_000021.9:g.45405193A>C	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	Knobloch syndrome	GUncertain significance
Select item 894997	NC_000021.9:g.45405204C>G	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	Knobloch syndrome	GUncertain significance
Select item 2652790	NM_001379500.1(COL18A1):c.-6del	BNAT1, COL18A1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 894998	NM_001379500.1(COL18A1):c.-2G>A	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	Knobloch syndrome +1 more	GUncertain significance
Select item 1472015	NM_001379500.1(COL18A1):c.5C>T (p.Ala2Val)	BNAT1, COL18A1 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452520	NM_001379500.1(COL18A1):c.8del (p.Pro3fs)	BNAT1, COL18A1 (P3fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1529763	NM_001379500.1(COL18A1):c.9G>A (p.Pro3=)	BNAT1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357447	NM_001379500.1(COL18A1):c.10A>G (p.Arg4Gly)	BNAT1, COL18A1 (R4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437116	NM_001379500.1(COL18A1):c.11G>A (p.Arg4Lys)	BNAT1, COL18A1 (R4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035854	NM_001379500.1(COL18A1):c.11+8C>T	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049887	NM_001379500.1(COL18A1):c.11+9G>T	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623986	NM_001379500.1(COL18A1):c.11+12del	BNAT1, COL18A1	Deletion (intron variant)	not provided	GBenign
Select item 2171202	NM_001379500.1(COL18A1):c.11+10G>C	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663906	NM_001379500.1(COL18A1):c.11+14T>C	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572151	NM_001379500.1(COL18A1):c.11+19_11+20insGGTCC	BNAT1, COL18A1	Insertion (intron variant)	not provided	GLikely benign
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 1634407	NM_001379500.1(COL18A1):c.12-19C>G	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563573	NM_001379500.1(COL18A1):c.12-17G>C	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837500	NM_001379500.1(COL18A1):c.12-15dup	BNAT1, COL18A1	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2827920	NM_001379500.1(COL18A1):c.12-15G>A	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2105246	NM_001379500.1(COL18A1):c.12-14C>T	COL18A1, BNAT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1483679	NM_001379500.1(COL18A1):c.12-7C>A	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2767431	NM_001379500.1(COL18A1):c.12-4G>T	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 17115	NM_001379500.1(COL18A1):c.12-2A>T	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 2034040	NM_001379500.1(COL18A1):c.12-1G>C	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1364829	NM_001379500.1(COL18A1):c.14_28dup (p.6_9PW[2]RPWPW[1])	BNAT1, COL18A1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1955737	NM_001379500.1(COL18A1):c.14G>T (p.Cys5Phe)	BNAT1, COL18A1 (C5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418518	NM_001379500.1(COL18A1):c.14G>A (p.Cys5Tyr)	COL18A1, BNAT1 (C5Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587948	NM_001379500.1(COL18A1):c.15C>T (p.Cys5=)	BNAT1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358050	NM_001379500.1(COL18A1):c.16C>T (p.Pro6Ser)	BNAT1, COL18A1 (P6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919660	NM_001379500.1(COL18A1):c.23C>T (p.Pro8Leu)	BNAT1, COL18A1 (P8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 894999	NC_000021.9:g.45405393G>T	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GUncertain significance
Select item 896438	NC_000021.9:g.45405396C>T	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	Knobloch syndrome	GUncertain significance
Select item 1346176	NM_001379500.1(COL18A1):c.30GCG[3] (p.Arg14del)	BNAT1, COL18A1 (R14del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 896439	NC_000021.9:g.45405398C>T	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1514027	NM_001379500.1(COL18A1):c.32G>T (p.Arg11Leu)	BNAT1, COL18A1 (R11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049969	NM_001379500.1(COL18A1):c.34C>G (p.Arg12Gly)	BNAT1, COL18A1 (R12G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 31