"Illumina Laboratory Services, Illumina"[submitter] AND "COL1A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 379245	NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)	COL1A1 (V1447I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +4 more	GConflicting classifications of pathogenicity
Select item 891522	NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)	COL1A1 (V1426M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 197918	NM_000088.4(COL1A1):c.4249-12G>A	COL1A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 779770	NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GConflicting classifications of pathogenicity
Select item 379751	NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)	COL1A1 (N1394S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 more	GBenign/Likely benign
Select item 281778	NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 324096	NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His)	COL1A1 (Q1380H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 324097	NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 890021	NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +3 more	GConflicting classifications of pathogenicity
Select item 35922	NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GBenign/Likely benign
Select item 891578	NM_000088.4(COL1A1):c.3815-10C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 324098	NM_000088.4(COL1A1):c.3815-12G>T	COL1A1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 225320	NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	COL1A1 (A1256T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 891837	NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)	COL1A1 (R1252H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GConflicting classifications of pathogenicity
Select item 287066	NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)	COL1A1 (I1245F)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +5 more	GConflicting classifications of pathogenicity
Select item 324099	NM_000088.4(COL1A1):c.3630C>T (p.His1210=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +4 more	GConflicting classifications of pathogenicity
Select item 889393	NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)	COL1A1 (E1207K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 547231	NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)	COL1A1 (A1194T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 568906	NM_000088.4(COL1A1):c.3531+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 324100	NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +6 more	GBenign
Select item 324101	NM_000088.4(COL1A1):c.3424-6C>A	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +4 more	GConflicting classifications of pathogenicity
Select item 456770	NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +5 more	GConflicting classifications of pathogenicity
Select item 772515	NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 702403	NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)	COL1A1 (R1093H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GConflicting classifications of pathogenicity
Select item 891900	NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)	COL1A1 (A1083T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 197496	NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified +13 more	GBenign/Likely benign
Select item 324102	NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)	COL1A1 (V1078A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +10 more	GConflicting classifications of pathogenicity
Select item 324103	NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile)	COL1A1 (V1057I)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 324105	NM_000088.4(COL1A1):c.3099+7T>C	COL1A1	Single nucleotide variant (intron variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 324104	NM_000088.4(COL1A1):c.3099+7T>G	COL1A1	Single nucleotide variant (intron variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 35918	NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)	COL1A1 (P978S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GConflicting classifications of pathogenicity
Select item 890714	NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 324106	NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser)	COL1A1 (P915S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 324107	NM_000088.4(COL1A1):c.2613+14G>A	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GBenign
Select item 509229	NM_000088.4(COL1A1):c.2613+13C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +5 more	GBenign/Likely benign
Select item 35915	NM_000088.4(COL1A1):c.2595C>T (p.Arg865=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GConflicting classifications of pathogenicity
Select item 324108	NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)	COL1A1 (P823A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GConflicting classifications of pathogenicity
Select item 889519	NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 890183	NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)	COL1A1 (P774A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 254947	NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +10 more	GBenign
Select item 707289	NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)	COL1A1 (A723V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity

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