C3151433[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31854	NM_001173467.3(SP7):c.1052del (p.Glu351fs)	SP7 (E333fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12	GPathogenic
Select item 560212	NM_001173467.3(SP7):c.946C>T (p.Arg316Cys)	SP7 (R316C +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 12	GPathogenic
Select item 30632	NM_021939.4(FKBP10):c.122_156del (p.Leu41fs)	FKBP10 (L41fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12	GPathogenic
Select item 3532	NM_021939.4(FKBP10):c.321_353del (p.Met107_Leu117del)	FKBP10	Deletion (inframe_deletion)	Osteogenesis imperfecta type 12	GPathogenic
Select item 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +6 more	GPathogenic
Select item 41899	NM_021939.4(FKBP10):c.948dup (p.Ile317fs)	FKBP10 (I317fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 39842	NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter)	FKBP10 (R403*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 12	GPathogenic
Select item 41425	NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs)	FKBP10 (A424fs)	Indel (frameshift variant)	Bruck syndrome 1 +1 more	GPathogenic

ClinVar