C0268358[trait identifier] AND "Genomics England Pilot Project, Genomi - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184445	NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)	COL1A2 (G109V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 496615	NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	COL1A2 (G199D)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +1 more	GLikely pathogenic
Select item 439504	NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	COL1A2 (G256V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +9 more	GPathogenic
Select item 423057	NM_000088.4(COL1A1):c.3207+1_3207+2del	COL1A1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1184518	NM_000088.4(COL1A1):c.3046-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1184567	NM_000088.4(COL1A1):c.1200+1del	COL1A1	Deletion (splice donor variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 425593	NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	COL1A1 (R361*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 1075143	NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	COL1A1 (G326R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic