COL1A1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647892	NM_000088.1(COL1A1):c.*1724A>T	COL1A1	Single nucleotide variant	not provided	GBenign
Select item 324053	NM_000088.4(COL1A1):c.1384_1387del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324054	NM_000088.4(COL1A1):c.*1324A>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 889080	NM_000088.4(COL1A1):c.*1316C>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 324055	NM_000088.4(COL1A1):c.*1265C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GBenign/Likely benign
Select item 324056	NM_000088.4(COL1A1):c.*1233G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 324057	NM_000088.4(COL1A1):c.*1205C>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 324058	NM_000088.4(COL1A1):c.*1175T>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GBenign
Select item 324059	NM_000088.4(COL1A1):c.*1165C>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 891320	NM_000088.4(COL1A1):c.*1151C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 891321	NM_000088.4(COL1A1):c.*1088G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 324060	NM_000088.4(COL1A1):c.*1087C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 1675293	NM_000088.4(COL1A1):c.*1050del	COL1A1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 324061	NM_000088.4(COL1A1):c.*1045del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324063	NM_000088.4(COL1A1):c.1029_1031del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324062	NM_000088.4(COL1A1):c.1030_1031del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324064	NM_000088.4(COL1A1):c.*1026TG[1]	COL1A1	Microsatellite (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324065	NM_000088.4(COL1A1):c.1026_1028del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 1257603	NM_000088.4(COL1A1):c.*1026dup	COL1A1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 892515	NM_000088.4(COL1A1):c.*1027G>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 324066	NM_000088.4(COL1A1):c.*1027del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 1321533	NM_000088.4(COL1A1):c.*1026del	COL1A1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1239296	NM_000088.4(COL1A1):c.1025_1026del	COL1A1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 889152	NM_000088.4(COL1A1):c.*1011T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 324067	NM_000088.4(COL1A1):c.1007_1008del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324068	NM_000088.4(COL1A1):c.998_999del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324069	NM_000088.4(COL1A1):c.*981G>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 889153	NM_000088.4(COL1A1):c.*837G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 889832	NM_000088.4(COL1A1):c.*836C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GConflicting classifications of pathogenicity
Select item 324070	NM_000088.4(COL1A1):c.*815A>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 324071	NM_000088.4(COL1A1):c.*795C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 324072	NM_000088.4(COL1A1):c.*744C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GBenign
Select item 324073	NM_000088.4(COL1A1):c.*733G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 324074	NM_000088.4(COL1A1):c.*714C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324076	NM_000088.4(COL1A1):c.681_682insAGCA	COL1A1	Insertion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +3 more	GBenign/Likely benign
Select item 324075	NM_000088.4(COL1A1):c.*682C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 324077	NM_000088.4(COL1A1):c.*631G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 324078	NM_000088.4(COL1A1):c.*623G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 889214	NM_000088.4(COL1A1):c.*548C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 889215	NM_000088.4(COL1A1):c.*502C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 1321544	NM_000088.4(COL1A1):c.*479C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 324079	NM_000088.4(COL1A1):c.*437A>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 324080	NM_000088.4(COL1A1):c.*378C>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GConflicting classifications of pathogenicity
Select item 889896	NM_000088.4(COL1A1):c.*356T>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 889897	NM_000088.4(COL1A1):c.*342C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 891442	NM_000088.4(COL1A1):c.*285C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 324081	NM_000088.4(COL1A1):c.259_260insAT	COL1A1	Insertion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324083	NM_000088.4(COL1A1):c.257_258dup	COL1A1	Duplication (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324082	NM_000088.4(COL1A1):c.*258dup	COL1A1	Duplication (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324084	NM_000088.4(COL1A1):c.*255dup	COL1A1	Duplication (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324085	NM_000088.4(COL1A1):c.*251dup	COL1A1	Duplication (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324086	NM_000088.4(COL1A1):c.245_246dup	COL1A1	Duplication (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 3049935	NM_000088.4(COL1A1):c.241_244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 3049923	NM_000088.4(COL1A1):c.*244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 3031295	NM_000088.4(COL1A1):c.239_244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 324089	NM_000088.4(COL1A1):c.242_244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 324088	NM_000088.4(COL1A1):c.243_244dup	COL1A1	Duplication (3 prime UTR variant)	COL1A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 324087	NM_000088.4(COL1A1):c.*245del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 3051830	NM_000088.4(COL1A1):c.*244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 3047733	NM_000088.4(COL1A1):c.240_244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 3043164	NM_000088.4(COL1A1):c.242_244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 3035193	NM_000088.4(COL1A1):c.243_244del	COL1A1	Deletion (3 prime UTR variant)	COL1A1-related condition	GLikely benign
Select item 324090	NM_000088.4(COL1A1):c.*215del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
Select item 324091	NM_000088.4(COL1A1):c.*202A>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GConflicting classifications of pathogenicity
Select item 324092	NM_000088.4(COL1A1):c.*194G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 1219079	NM_000088.4(COL1A1):c.*142del	COL1A1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 891701	NM_000088.4(COL1A1):c.*120T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 889272	NM_000088.4(COL1A1):c.*93A>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 889273	NM_000088.4(COL1A1):c.*88T>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 324093	NM_000088.4(COL1A1):c.*88T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GBenign
Select item 889274	NM_000088.4(COL1A1):c.*73C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 324094	NM_000088.4(COL1A1):c.*21G>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 489278	NM_000088.4(COL1A1):c.*20G>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 804562	NM_000088.4(COL1A1):c.*16A>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1216334	NM_000088.4(COL1A1):c.*4C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2714540	NM_000088.4(COL1A1):c.4392G>A (p.Leu1464=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 17332	NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro)	COL1A1	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1166697	NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu)	COL1A1 (F1463L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 425632	NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)	COL1A1 (F1463fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1740172	NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 649441	NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala)	COL1A1 (G1459A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1043452	NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala)	COL1A1 (V1458A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1224379	NM_000088.4(COL1A1):c.4372G>C (p.Val1458Leu)	COL1A1 (V1458L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 324095	NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)	COL1A1 (V1458I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1216843	NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GLikely benign
Select item 1805663	NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)	COL1A1 (D1457H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 579236	NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)	COL1A1 (D1457N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 1427498	NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu)	COL1A1 (F1456L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1123226	NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2825583	NM_000088.4(COL1A1):c.4367T>G (p.Phe1456Cys)	COL1A1 (F1456C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1740034	NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)	COL1A1 (G1455S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 514301	NM_000088.4(COL1A1):c.4362C>T (p.Phe1454=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 17307	NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs)	COL1A1	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1691604	NM_000088.4(COL1A1):c.4361T>C (p.Phe1454Ser)	COL1A1 (F1454S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2104840	NM_000088.4(COL1A1):c.4356_4359dup (p.Phe1454fs)	COL1A1 (F1454fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1806460	NM_000088.4(COL1A1):c.4352_4356del (p.Asp1451fs)	COL1A1 (D1451fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1739961	NM_000088.4(COL1A1):c.4356G>A (p.Gln1452=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1304034	NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr)	COL1A1 (D1451Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894928	NM_000088.4(COL1A1):c.4347C>T (p.Ala1449=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GBenign
Select item 852886	NM_000088.4(COL1A1):c.4325_4347del (p.Val1442fs)	COL1A1 (V1442fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic

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