"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1422099	NM_182943.3(PLOD2):c.475A>T (p.Ile159Phe)	LOC129389144, PLOD2 (I159F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 343651	NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)	LOC129389144, PLOD2 (K128E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance