ClinVar for MedGen (Select 462783) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503440	NM_001173467.3(SP7):c.359_362del (p.Asp120fs)	SP7 (D102fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12	GLikely pathogenic
Select item 2436269	NM_001173467.3(SP7):c.455G>C (p.Gly152Ala)	SP7 (G134A +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 12	GUncertain significance
Select item 2436268	NM_001173467.3(SP7):c.973G>A (p.Val325Ile)	SP7 (V307I +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 12	GUncertain significance
Select item 1506437	NM_001173467.3(SP7):c.144C>G (p.Tyr48Ter)	SP7 (Y48* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 12 +1 more	GUncertain significance
Select item 1361090	NM_001173467.3(SP7):c.135_136del (p.Lys46fs)	SP7 (K46fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12 +1 more	GUncertain significance
Select item 1268320	NM_001173467.3(SP7):c.993C>T (p.Cys331=)	SP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1181435	NM_001173467.3(SP7):c.-47-15del	SP7	Deletion (5 prime UTR variant +1 more)	Osteogenesis imperfecta type 12 +1 more	GLikely benign
Select item 829874	NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter)	SP7 (R347* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +6 more	GPathogenic
Select item 285779	NM_001173467.3(SP7):c.1128T>C (p.His376=)	SP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 285778	NM_001173467.3(SP7):c.1098C>T (p.Ser366=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 12 +2 more	GBenign
Select item 282803	NM_001173467.3(SP7):c.1272G>A (p.Glu424=)	SP7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196318	NM_001173467.3(SP7):c.864G>A (p.Leu288=)	SP7	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 41899	NM_021939.4(FKBP10):c.948dup (p.Ile317fs)	FKBP10 (I317fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 41425	NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs)	FKBP10 (A424fs)	Indel (frameshift variant)	Bruck syndrome 1 +1 more	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 31854	NM_001173467.3(SP7):c.1052del (p.Glu351fs)	SP7 (E333fs +1 more)	Deletion (frameshift 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

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Items: 20