ClinVar for MedGen (Select 1846121) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664074	NM_001144758.3(PHLDB1):c.2690_2693del (p.Leu897fs)	PHLDB1 (L897fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta, type 23	GPathogenic
Select item 2664073	NM_001144758.3(PHLDB1):c.2392dup (p.Leu798fs)	PHLDB1 (L798fs)	Duplication (frameshift variant)	Osteogenesis imperfecta, type 23	GPathogenic