CN239427[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360942	NM_000089.4(COL1A2):c.71C>G (p.Ser24Cys)	COL1A2 (S24C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +1 more	GUncertain significance
Select item 360954	NM_000089.4(COL1A2):c.1252-6del	COL1A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 360983	NM_000089.4(COL1A2):c.654_655insGTTGTCC	COL1A2	Insertion (3 prime UTR variant)	not provided +2 more	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 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 324066	NM_000088.4(COL1A1):c.*1027del	COL1A1	Deletion (3 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance
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 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 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 324130	NM_000088.4(COL1A1):c.-78_-77delinsAA	COL1A1	Indel (5 prime UTR variant)	Osteogenesis Imperfecta, Dominant +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25