"GeneDx"[submitter] AND "COL14A1"[gene] - ClinVar

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Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 60406	GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1	CCN3, COL14A1 +55 more	Copy number loss	See cases	GPathogenic
Select item 1221897	NM_021110.4(COL14A1):c.-37-178C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713104	NM_021110.4(COL14A1):c.16C>T (p.Arg6Cys)	COL14A1 (R6C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1222432	NM_021110.4(COL14A1):c.89-169G>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235618	NM_021110.4(COL14A1):c.205+318G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229826	NM_021110.4(COL14A1):c.206-103del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 1252899	NM_021110.4(COL14A1):c.349+29C>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224105	NM_021110.4(COL14A1):c.436+178G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267450	NM_021110.4(COL14A1):c.436+181C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268056	NM_021110.4(COL14A1):c.437-30A>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772907	NM_021110.4(COL14A1):c.448G>C (p.Val150Leu)	COL14A1 (V150L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1284014	NM_021110.4(COL14A1):c.592+206C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237839	NM_021110.4(COL14A1):c.612T>C (p.Gly204=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 392486	NM_021110.4(COL14A1):c.676C>T (p.Arg226Ter)	COL14A1 (R226*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1221307	NM_021110.4(COL14A1):c.712+81C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245365	NM_021110.4(COL14A1):c.713-72G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258745	NM_021110.4(COL14A1):c.877+42C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239893	NM_021110.4(COL14A1):c.921T>C (p.Ser307=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1271707	NM_021110.4(COL14A1):c.1040-215T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262095	NM_021110.4(COL14A1):c.1191+264A>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276802	NM_021110.4(COL14A1):c.1192-76G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234414	NM_021110.4(COL14A1):c.1322-124C>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182743	NM_021110.4(COL14A1):c.1687A>C (p.Asn563His)	COL14A1 (N563H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1281066	NM_021110.4(COL14A1):c.1737+294T>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286737	NM_021110.4(COL14A1):c.1865-320del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 1225523	NM_021110.4(COL14A1):c.1865-320T>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255143	NM_021110.4(COL14A1):c.2138-303G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255305	NM_021110.4(COL14A1):c.2138-137G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261330	NM_021110.4(COL14A1):c.2349+209C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265628	NM_021110.4(COL14A1):c.2349+232G>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265746	NM_021110.4(COL14A1):c.2350-195_2350-189del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 1262153	NM_021110.4(COL14A1):c.2382T>C (p.Leu794=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1251496	NM_021110.4(COL14A1):c.2480-174_2480-173dup	COL14A1	Duplication (intron variant)	not provided	GBenign
Select item 1250993	NM_021110.4(COL14A1):c.2480-173dup	COL14A1	Duplication (intron variant)	not provided	GBenign
Select item 1230233	NM_021110.4(COL14A1):c.2480-9T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298003	NM_021110.4(COL14A1):c.2490G>A (p.Ser830=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772908	NM_021110.4(COL14A1):c.2550C>T (p.Asp850=)	COL14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1284026	NM_021110.4(COL14A1):c.2602+46T>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273113	NM_021110.4(COL14A1):c.2603-81A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243456	NM_021110.4(COL14A1):c.2752+71T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259306	NM_021110.4(COL14A1):c.2752+120A>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244346	NM_021110.4(COL14A1):c.2752+127C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277953	NM_021110.4(COL14A1):c.2869+22C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182013	NM_021110.4(COL14A1):c.2869+134A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230428	NM_021110.4(COL14A1):c.2869+141A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274154	NM_021110.4(COL14A1):c.2870-256A>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278590	NM_021110.4(COL14A1):c.3017-285A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232343	NM_021110.4(COL14A1):c.3214-305A>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282832	NM_021110.4(COL14A1):c.3214-244T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234026	NM_021110.4(COL14A1):c.3337+100T>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228448	NM_021110.4(COL14A1):c.3481+95G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236497	NM_021110.4(COL14A1):c.3646+69G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269227	NM_021110.4(COL14A1):c.3647-145G>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241830	NM_021110.4(COL14A1):c.3647-3C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286201	NM_021110.4(COL14A1):c.3686-4_3686-3del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 1271865	NM_021110.4(COL14A1):c.3824+33G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276292	NM_021110.4(COL14A1):c.3824+78A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285809	NM_021110.4(COL14A1):c.3825-131T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270260	NM_021110.4(COL14A1):c.3967+28A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247801	NM_021110.4(COL14A1):c.3967+148G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253613	NM_021110.4(COL14A1):c.3968-54C>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276174	NM_021110.4(COL14A1):c.4077+167T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253757	NM_021110.4(COL14A1):c.4237-71A>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228864	NM_021110.4(COL14A1):c.4314+35A>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277771	NM_021110.4(COL14A1):c.4314+275C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259268	NM_021110.4(COL14A1):c.4551+161G>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272454	NM_021110.4(COL14A1):c.4551+207A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288967	NM_021110.4(COL14A1):c.4552-143_4552-140del	COL14A1	Deletion (intron variant)	not provided	GBenign
Select item 1269533	NM_021110.4(COL14A1):c.4552-99C>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250965	NM_021110.4(COL14A1):c.4659+147_4659+148insT	COL14A1	Insertion (intron variant)	not provided	GBenign
Select item 1231030	NM_021110.4(COL14A1):c.4660-294T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253928	NM_021110.4(COL14A1):c.4713+28A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278905	NM_021110.4(COL14A1):c.4714-153G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295092	NM_021110.4(COL14A1):c.4714-59T>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247348	NM_021110.4(COL14A1):c.4786-148G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291119	NM_021110.4(COL14A1):c.4821+52A>G	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266065	NM_021110.4(COL14A1):c.4821+93A>T	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225802	NM_021110.4(COL14A1):c.4821+283G>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231972	NM_021110.4(COL14A1):c.4822-290T>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276580	NM_021110.4(COL14A1):c.4822-114G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280891	NM_021110.4(COL14A1):c.4822-113G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236729	NM_021110.4(COL14A1):c.4888+166G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281291	NM_021110.4(COL14A1):c.4888+277G>A	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267546	NM_021110.4(COL14A1):c.5156-232G>C	COL14A1	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 88