"Genetics Department, Polish Mother's Memorial Hospital Research Insti - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691338	NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)	COL1A2 (D144G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 419709	NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)	COL1A2 (G247C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 691337	NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg)	COL1A2 (G268R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691334	NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)	COL1A2 (G292D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 691333	NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)	COL1A2 (G298S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 870113	NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)	COL1A2 (G304S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic/Likely pathogenic
Select item 870112	NM_000089.4(COL1A2):c.957_974dup (p.Ala320_Gly325dup)	COL1A2	Duplication (inframe_insertion)	Osteogenesis imperfecta	GPathogenic
Select item 691335	NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp)	COL1A2 (G334D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 870114	NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)	COL1A2 (G361C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GPathogenic/Likely pathogenic
Select item 870111	NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)	COL1A2 (G406del)	Deletion (inframe_deletion)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691336	NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val)	COL1A2 (G556V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 2430179	NM_000089.4(COL1A2):c.2295+5G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 2430180	NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)	COL1A2 (G958V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691332	NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val)	COL1A2 (G1072V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 870115	NC_000007.14:g.(?_94402140)_(94406279_?)del	COL1A2	Deletion	Osteogenesis imperfecta	GLikely pathogenic