COL15A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1339788	NM_001855.5(COL15A1):c.12-6T>G	COL15A1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3048016	NM_001855.5(COL15A1):c.75T>C (p.Ala25=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3147253	NM_001855.5(COL15A1):c.91G>T (p.Gly31Cys)	COL15A1 (G31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515170	NM_001855.5(COL15A1):c.98C>T (p.Thr33Ile)	COL15A1 (T33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033567	NM_001855.5(COL15A1):c.100+9C>A	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GLikely benign
Select item 2352880	NM_001855.5(COL15A1):c.133C>A (p.Gln45Lys)	COL15A1 (Q45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056690	NM_001855.5(COL15A1):c.139A>G (p.Ile47Val)	COL15A1 (I47V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3147221	NM_001855.5(COL15A1):c.142G>A (p.Gly48Ser)	COL15A1 (G48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049507	NM_001855.5(COL15A1):c.171T>C (p.Phe57=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 3268547	NM_001855.5(COL15A1):c.199T>C (p.Tyr67His)	COL15A1 (Y67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034011	NM_001855.5(COL15A1):c.207C>T (p.Phe69=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 2621798	NM_001855.5(COL15A1):c.208G>C (p.Gly70Arg)	COL15A1 (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387448	NM_001855.5(COL15A1):c.217G>A (p.Ala73Thr)	COL15A1 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278241	NM_001855.5(COL15A1):c.259T>C (p.Phe87Leu)	COL15A1 (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033343	NM_001855.5(COL15A1):c.273C>T (p.Phe91=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 2248638	NM_001855.5(COL15A1):c.275C>T (p.Ala92Val)	COL15A1 (A92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298610	NM_001855.5(COL15A1):c.281G>A (p.Ser94Asn)	COL15A1 (S94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031774	NM_001855.5(COL15A1):c.286G>A (p.Val96Met)	COL15A1 (V96M)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 3147241	NM_001855.5(COL15A1):c.302G>C (p.Ser101Thr)	COL15A1 (S101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606135	NM_001855.5(COL15A1):c.398G>A (p.Arg133Gln)	COL15A1 (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268542	NM_001855.5(COL15A1):c.416C>T (p.Thr139Met)	COL15A1 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147248	NM_001855.5(COL15A1):c.461T>G (p.Val154Gly)	COL15A1 (V154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205439	NM_001855.5(COL15A1):c.466G>T (p.Val156Leu)	COL15A1 (V156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060205	NM_001855.5(COL15A1):c.488G>A (p.Arg163His)	COL15A1 (R163H)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 2281106	NM_001855.5(COL15A1):c.536G>A (p.Cys179Tyr)	COL15A1 (C179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043699	NM_001855.5(COL15A1):c.571T>C (p.Ser191Pro)	COL15A1 (S191P)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3268548	NM_001855.5(COL15A1):c.590A>G (p.Glu197Gly)	COL15A1 (E197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060795	NM_001855.5(COL15A1):c.610A>G (p.Met204Val)	COL15A1 (M204V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 2239337	NM_001855.5(COL15A1):c.637G>A (p.Glu213Lys)	COL15A1 (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771879	NM_001855.5(COL15A1):c.654C>T (p.Ser218=)	COL15A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3043766	NM_001855.5(COL15A1):c.670G>A (p.Val224Met)	COL15A1 (V224M)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3041458	NM_001855.5(COL15A1):c.693C>T (p.Pro231=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 2569123	NM_001855.5(COL15A1):c.717G>T (p.Glu239Asp)	COL15A1 (E239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147250	NM_001855.5(COL15A1):c.774C>G (p.Ile258Met)	COL15A1 (I258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391281	NM_001855.5(COL15A1):c.777A>T (p.Leu259Phe)	COL15A1 (L259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050547	NM_001855.5(COL15A1):c.780A>G (p.Glu260=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 2340870	NM_001855.5(COL15A1):c.784G>A (p.Val262Ile)	COL15A1 (V262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147251	NM_001855.5(COL15A1):c.805C>A (p.Pro269Thr)	COL15A1 (P269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044600	NM_001855.5(COL15A1):c.852C>G (p.Ser284=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 2458970	NM_001855.5(COL15A1):c.870G>T (p.Met290Ile)	COL15A1 (M290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147252	NM_001855.5(COL15A1):c.873A>C (p.Glu291Asp)	COL15A1 (E291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060282	NM_001855.5(COL15A1):c.952+9G>A	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GBenign
Select item 3147254	NM_001855.5(COL15A1):c.988G>C (p.Val330Leu)	COL15A1 (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557788	NM_001855.5(COL15A1):c.1012A>G (p.Ile338Val)	COL15A1 (I338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046387	NM_001855.5(COL15A1):c.1023C>T (p.Ser341=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 2590295	NM_001855.5(COL15A1):c.1078A>C (p.Thr360Pro)	COL15A1 (T360P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332432	NM_001855.5(COL15A1):c.1109G>A (p.Ser370Asn)	COL15A1 (S370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147218	NM_001855.5(COL15A1):c.1126G>A (p.Glu376Lys)	COL15A1 (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243085	NM_001855.5(COL15A1):c.1165A>G (p.Met389Val)	COL15A1 (M389V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310837	NM_001855.5(COL15A1):c.1166T>C (p.Met389Thr)	COL15A1 (M389T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708044	NM_001855.5(COL15A1):c.1172C>T (p.Thr391Met)	COL15A1 (T391M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3030872	NM_001855.5(COL15A1):c.1249G>A (p.Glu417Lys)	COL15A1 (E417K)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GLikely benign
Select item 2388557	NM_001855.5(COL15A1):c.1258G>A (p.Ala420Thr)	COL15A1 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059690	NM_001855.5(COL15A1):c.1266G>A (p.Met422Ile)	COL15A1 (M422I)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3147219	NM_001855.5(COL15A1):c.1291G>A (p.Val431Met)	COL15A1 (V431M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245827	NM_001855.5(COL15A1):c.1300G>A (p.Gly434Arg)	COL15A1 (G434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060796	NM_001855.5(COL15A1):c.1324G>A (p.Ala442Thr)	COL15A1 (A442T)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3044072	NM_001855.5(COL15A1):c.1332C>T (p.Ser444=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GBenign
Select item 3060090	NM_001855.5(COL15A1):c.1336G>A (p.Gly446Arg)	COL15A1 (G446R)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 2383204	NM_001855.5(COL15A1):c.1370A>G (p.Asp457Gly)	COL15A1 (D457G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147222	NM_001855.5(COL15A1):c.1436G>T (p.Ser479Ile)	COL15A1 (S479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532138	NM_001855.5(COL15A1):c.1481C>T (p.Ala494Val)	COL15A1 (A494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147223	NM_001855.5(COL15A1):c.1486G>A (p.Glu496Lys)	COL15A1 (E496K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059549	NM_001855.5(COL15A1):c.1511G>T (p.Gly504Val)	COL15A1 (G504V)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3056336	NM_001855.5(COL15A1):c.1518A>C (p.Glu506Asp)	COL15A1 (E506D)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3056651	NM_001855.5(COL15A1):c.1592C>G (p.Pro531Arg)	COL15A1 (P531R)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign
Select item 3147224	NM_001855.5(COL15A1):c.1604C>T (p.Pro535Leu)	COL15A1 (P535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342012	NM_001855.5(COL15A1):c.1720C>T (p.Leu574Phe)	COL15A1 (L574F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147225	NM_001855.5(COL15A1):c.1730C>G (p.Pro577Arg)	COL15A1 (P577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343289	NM_001855.5(COL15A1):c.1739C>T (p.Pro580Leu)	COL15A1 (P580L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281724	NM_001855.5(COL15A1):c.1748C>T (p.Pro583Leu)	COL15A1 (P583L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270368	NM_001855.5(COL15A1):c.1760C>T (p.Thr587Met)	COL15A1 (T587M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059283	NM_001855.5(COL15A1):c.1761+6A>G	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GBenign
Select item 3046964	NM_001855.5(COL15A1):c.1762-9T>C	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GLikely benign
Select item 3059169	NM_001855.5(COL15A1):c.1762-6T>C	COL15A1	Single nucleotide variant (intron variant)	COL15A1-related disorder	GBenign
Select item 2258397	NM_001855.5(COL15A1):c.1781G>T (p.Gly594Val)	COL15A1 (G594V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040904	NM_001855.5(COL15A1):c.1789C>T (p.Leu597=)	COL15A1	Single nucleotide variant (synonymous variant)	COL15A1-related disorder	GLikely benign
Select item 2353676	NM_001855.5(COL15A1):c.1798G>A (p.Gly600Ser)	COL15A1 (G600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406019	NM_001855.5(COL15A1):c.1802C>G (p.Ser601Trp)	COL15A1 (S601W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336201	NM_001855.5(COL15A1):c.1802C>T (p.Ser601Leu)	COL15A1 (S601L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278276	NM_001855.5(COL15A1):c.1853G>A (p.Arg618Lys)	COL15A1 (R618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 3147226	NM_001855.5(COL15A1):c.1867C>T (p.Pro623Ser)	COL15A1 (P623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268544	NM_001855.5(COL15A1):c.1873G>C (p.Gly625Arg)	COL15A1 (G625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147227	NM_001855.5(COL15A1):c.1904A>G (p.Lys635Arg)	COL15A1 (K635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250277	NM_001855.5(COL15A1):c.1905A>C (p.Lys635Asn)	COL15A1 (K635N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052964	NM_001855.5(COL15A1):c.1933C>T (p.Pro645Ser)	COL15A1 (P645S)	Single nucleotide variant (missense variant)	COL15A1-related disorder	GBenign

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