C0023931[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430639	NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)	COL1A2 (G292V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 800487	NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys)	COL1A2 (G439C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 870139	NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)	COL1A2 (G475V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 870141	NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)	COL1A2 (G691D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 427739	NM_000089.4(COL1A2):c.2673G>A (p.Val891=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 623484	NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs)	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 1328469	NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter)	COL1A1 (L1005*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta +1 more	GPathogenic
Select item 430640	NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser)	COL1A1 (G881S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 917882	NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter)	COL1A1 (G728*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 800488	NM_000088.4(COL1A1):c.805-1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 870140	NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)	COL1A1 (G191V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic