C0023931[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456803	NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)	COL1A2 (V416I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 521008	NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	COL1A2 (G526R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GPathogenic/Likely pathogenic
Select item 1314448	NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)	COL1A2 (D1007N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 2585355	NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu)	COL1A1 (D1441E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 425606	NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)	COL1A1 (G719S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GPathogenic
Select item 1368199	NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)	COL1A1 (G413A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GConflicting classifications of pathogenicity
Select item 1452080	NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser)	COL1A1, LOC126862586 (G287S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic/Likely pathogenic
Select item 526854	NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)	COL1A1 (G200V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1339103	NM_000088.4(COL1A1):c.590G>T (p.Gly197Val)	COL1A1 (G197V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic