COL18A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438236	Single allele	COL18A1	Deletion	Retinitis pigmentosa	GLikely pathogenic
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 1964427	NM_001379500.1(COL18A1):c.107-12705C>T	COL18A1 (P3S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3233669	NM_001379500.1(COL18A1):c.107-12701del	COL18A1 (Y4fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2025401	NM_001379500.1(COL18A1):c.107-12701A>C	COL18A1 (Y4S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404477	NM_001379500.1(COL18A1):c.107-12701A>G	COL18A1 (Y4C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643859	NM_001379500.1(COL18A1):c.107-12700C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1442651	NM_001379500.1(COL18A1):c.107-12699C>G	COL18A1 (P5A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723339	NM_001379500.1(COL18A1):c.107-12698C>G	COL18A1 (P5R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1957283	NM_001379500.1(COL18A1):c.107-12691C>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2776930	NM_001379500.1(COL18A1):c.107-12688C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111903	NM_001379500.1(COL18A1):c.107-12681C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1598261	NM_001379500.1(COL18A1):c.107-12667C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1483617	NM_001379500.1(COL18A1):c.107-12663_107-12661del	COL18A1 (C17del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1916009	NM_001379500.1(COL18A1):c.107-12662G>A	COL18A1 (C17Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1592582	NM_001379500.1(COL18A1):c.107-12660C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 445614	NM_001379500.1(COL18A1):c.107-12656C>T	COL18A1 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1915121	NM_001379500.1(COL18A1):c.107-12655G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1060496	NM_001379500.1(COL18A1):c.107-12648C>T	COL18A1 (R22W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 402553	NM_001379500.1(COL18A1):c.107-12645dup	COL18A1 (A23fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 2420642	NM_001379500.1(COL18A1):c.107-12647G>A	COL18A1 (R22Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669444	NM_001379500.1(COL18A1):c.107-12640C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1361907	NM_001379500.1(COL18A1):c.107-12640C>A	COL18A1 (N24K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063598	NM_001379500.1(COL18A1):c.107-12630C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1542072	NM_001379500.1(COL18A1):c.107-12630C>G	COL18A1 (L28V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1480862	NM_001379500.1(COL18A1):c.107-12630C>A	COL18A1 (L28M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1923371	NM_001379500.1(COL18A1):c.107-12626A>G	COL18A1 (N29S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1434971	NM_001379500.1(COL18A1):c.107-12624T>C	COL18A1 (W30R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1366027	NM_001379500.1(COL18A1):c.107-12621C>T	COL18A1 (L31F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819117	NM_001379500.1(COL18A1):c.107-12615T>C	COL18A1 (F33L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1404113	NM_001379500.1(COL18A1):c.107-12611A>G	COL18A1 (N34S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1986287	NM_001379500.1(COL18A1):c.107-12606G>A	COL18A1 (E36K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1588195	NM_001379500.1(COL18A1):c.107-12601C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1514274	NM_001379500.1(COL18A1):c.107-12599C>G	COL18A1 (T38S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1401462	NM_001379500.1(COL18A1):c.107-12596_107-12593del	COL18A1 (S39fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1445734	NM_001379500.1(COL18A1):c.107-12592_107-12591inv	COL18A1 (A41T)	Inversion (missense 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 1477749	NM_001379500.1(COL18A1):c.107-12585A>G	COL18A1 (T43A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1403557	NM_001379500.1(COL18A1):c.107-12581C>T	COL18A1 (T44M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1567158	NM_001379500.1(COL18A1):c.107-12580G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1580512	NM_001379500.1(COL18A1):c.107-12577C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067384	NM_001379500.1(COL18A1):c.107-12575C>G	COL18A1 (P46R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2750693	NM_001379500.1(COL18A1):c.107-12574T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1170672	NM_001379500.1(COL18A1):c.107-12570C>G	COL18A1 (P48A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2105848	NM_001379500.1(COL18A1):c.107-12568C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 445671	NM_001379500.1(COL18A1):c.107-12566A>T	COL18A1 (Q49L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1518742	NM_001379500.1(COL18A1):c.107-12560C>A	COL18A1 (P51H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385483	NM_001379500.1(COL18A1):c.107-12560_107-12551del	COL18A1 (P51fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2816415	NM_001379500.1(COL18A1):c.107-12558C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1166528	NM_001379500.1(COL18A1):c.107-12541A>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1953499	NM_001379500.1(COL18A1):c.107-12535T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1414352	NM_001379500.1(COL18A1):c.107-12533C>A	COL18A1 (T60N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047154	NM_001379500.1(COL18A1):c.107-12533C>T	COL18A1 (T60I)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1662751	NM_001379500.1(COL18A1):c.107-12532C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1953972	NM_001379500.1(COL18A1):c.107-12528A>G	COL18A1 (T62A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1570511	NM_001379500.1(COL18A1):c.107-12526A>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1513019	NM_001379500.1(COL18A1):c.107-12525C>T	COL18A1 (H63Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1630758	NM_001379500.1(COL18A1):c.107-12523C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1378174	NM_001379500.1(COL18A1):c.107-12522G>A	COL18A1 (V64M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795967	NM_001379500.1(COL18A1):c.107-12520G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2093415	NM_001379500.1(COL18A1):c.107-12513dup	COL18A1 (R67fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2825859	NM_001379500.1(COL18A1):c.107-12516C>T	COL18A1 (P66S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1349849	NM_001379500.1(COL18A1):c.107-12515C>T	COL18A1 (P66L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519449	NM_001379500.1(COL18A1):c.107-12513C>T	COL18A1 (R67W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1447718	NM_001379500.1(COL18A1):c.107-12512G>A	COL18A1 (R67Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771663	NM_001379500.1(COL18A1):c.107-12508T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2108056	NM_001379500.1(COL18A1):c.107-12502C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094643	NM_001379500.1(COL18A1):c.107-12500C>T	COL18A1 (T71I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1397702	NM_001379500.1(COL18A1):c.107-12494C>T	COL18A1 (P73L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1449227	NM_001379500.1(COL18A1):c.107-12491C>A	COL18A1 (A74E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1645357	NM_001379500.1(COL18A1):c.107-12490G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1470639	NM_001379500.1(COL18A1):c.107-12485C>A	COL18A1 (A76D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1665229	NM_001379500.1(COL18A1):c.107-12478C>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1170673	NM_001379500.1(COL18A1):c.107-12473C>G	COL18A1 (P80R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2893554	NM_001379500.1(COL18A1):c.107-12472T>A	COL18A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2822638	NM_001379500.1(COL18A1):c.107-12471G>A	COL18A1 (E81K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2053800	NM_001379500.1(COL18A1):c.107-12464C>T	COL18A1 (P83L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2421634	NM_001379500.1(COL18A1):c.107-12461C>T	COL18A1 (S84L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111687	NM_001379500.1(COL18A1):c.107-12456C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1963917	NM_001379500.1(COL18A1):c.107-12454G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1638682	NM_001379500.1(COL18A1):c.107-12453C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1450428	NM_001379500.1(COL18A1):c.107-12449A>G	COL18A1 (E88G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1608723	NM_001379500.1(COL18A1):c.107-12445T>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002660	NM_001379500.1(COL18A1):c.107-12443G>T	COL18A1 (G90V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1469728	NM_001379500.1(COL18A1):c.107-12435A>G	COL18A1 (T93A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1411390	NM_001379500.1(COL18A1):c.107-12434C>T	COL18A1 (T93I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1660927	NM_001379500.1(COL18A1):c.107-12430C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755466	NM_001379500.1(COL18A1):c.107-12424T>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1539268	NM_001379500.1(COL18A1):c.107-12421C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1464921	NM_001379500.1(COL18A1):c.107-12420G>A	COL18A1 (E98K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431975	NM_001379500.1(COL18A1):c.107-12413C>T	COL18A1 (P100L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1577666	NM_001379500.1(COL18A1):c.107-12412G>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1545910	NM_001379500.1(COL18A1):c.107-12412G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1535501	NM_001379500.1(COL18A1):c.107-12409C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1420982	NM_001379500.1(COL18A1):c.107-12408G>A	COL18A1 (A102T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417194	NM_001379500.1(COL18A1):c.107-12407C>T	COL18A1 (A102V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1665749	NM_001379500.1(COL18A1):c.107-12406G>A	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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