"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "COL18A1 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
Select item 2030279	NM_001379500.1(COL18A1):c.36del (p.Arg13fs)	BNAT1, COL18A1 (R13fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1382298	NM_001379500.1(COL18A1):c.38G>C (p.Arg13Pro)	BNAT1, COL18A1 (R13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479081	NM_001379500.1(COL18A1):c.40C>T (p.Arg14Cys)	COL18A1, BNAT1 (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512080	NM_001379500.1(COL18A1):c.41G>C (p.Arg14Pro)	BNAT1, COL18A1 (R14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393549	NM_001379500.1(COL18A1):c.44T>C (p.Leu15Pro)	COL18A1, BNAT1 (L15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547109	NM_001379500.1(COL18A1):c.48G>A (p.Leu16=)	BNAT1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393882	NM_001379500.1(COL18A1):c.52G>A (p.Val18Met)	BNAT1, COL18A1 (V18M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447838	NM_001379500.1(COL18A1):c.58G>A (p.Ala20Thr)	BNAT1, COL18A1 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993887	NM_001379500.1(COL18A1):c.60G>T (p.Ala20=)	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1513409	NM_001379500.1(COL18A1):c.62C>G (p.Pro21Arg)	BNAT1, COL18A1 (P21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611957	NM_001379500.1(COL18A1):c.66G>C (p.Leu22=)	BNAT1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074722	NM_001379500.1(COL18A1):c.67G>A (p.Val23Ile)	BNAT1, COL18A1 (V23I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180113	NM_001379500.1(COL18A1):c.76C>T (p.Leu26Phe)	BNAT1, COL18A1 (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999441	NM_001379500.1(COL18A1):c.77T>C (p.Leu26Pro)	BNAT1, COL18A1 (L26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442849	NM_001379500.1(COL18A1):c.79G>T (p.Gly27Trp)	BNAT1, COL18A1 (G27W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361139	NM_001379500.1(COL18A1):c.79G>C (p.Gly27Arg)	BNAT1, COL18A1 (G27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447190	NM_001379500.1(COL18A1):c.88_92del (p.Ala30fs)	BNAT1, COL18A1 (A30fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1361283	NM_001379500.1(COL18A1):c.88G>T (p.Ala30Ser)	BNAT1, COL18A1 (A30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446385	NM_001379500.1(COL18A1):c.95C>T (p.Ser32Phe)	BNAT1, COL18A1 (S32F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 896440	NC_000021.9:g.45405463C>T	BNAT1, COL18A1	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1517648	NM_001379500.1(COL18A1):c.98C>T (p.Ala33Val)	COL18A1, BNAT1 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017735	NM_001379500.1(COL18A1):c.106G>C (p.Glu36Gln)	BNAT1, COL18A1 (E36Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964223	NM_001379500.1(COL18A1):c.106+8C>A	BNAT1, COL18A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1652018	NM_001379500.1(COL18A1):c.106+10G>A	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633447	NM_001379500.1(COL18A1):c.106+10G>T	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560009	NM_001379500.1(COL18A1):c.106+13C>A	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535382	NM_001379500.1(COL18A1):c.106+14G>A	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536371	NM_001379500.1(COL18A1):c.106+18C>T	BNAT1, COL18A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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

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