ClinVar for MedGen (Select 1635201) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412817	NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys)	TENT5A (W68C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GUncertain significance
Select item 1683688	NM_017633.3(TENT5A):c.749dup (p.Met251fs)	TENT5A (M251fs)	Duplication (frameshift variant)	Osteogenesis imperfecta, type 18	GUncertain significance
Select item 1029627	NM_017633.3(TENT5A):c.790G>T (p.Val264Phe)	TENT5A (V264F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18 +1 more	GUncertain significance
Select item 769684	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5])	TENT5A	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 523123	NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly)	TENT5A (D231G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GPathogenic
Select item 523122	NM_017633.3(TENT5A):c.380A>G (p.His127Arg)	TENT5A (H127R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GPathogenic
Select item 523121	NM_017633.3(TENT5A):c.612_613dup (p.Ser205fs)	TENT5A (S205fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta, type 18	GPathogenic

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