"Medical Molecular Genetics Department, National Research Center"[subm - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 286621	NM_021939.4(FKBP10):c.21C>T (p.Pro7=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 684397	NM_021939.4(FKBP10):c.99C>A (p.Arg33=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11	GBenign
Select item 684398	NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr)	FKBP10 (A34T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 684394	NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr)	FKBP10 (P36T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 684395	NM_021939.4(FKBP10):c.134T>A (p.Val45Asp)	FKBP10 (V45D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 684399	NM_021939.4(FKBP10):c.363C>T (p.Pro121=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 684396	NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys)	FKBP10 (G124C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 684400	NM_021939.4(FKBP10):c.492G>A (p.Pro164=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 261438	NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)	FKBP10 (K197R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 323186	NM_021939.4(FKBP10):c.732A>G (p.Thr244=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 684401	NM_021939.4(FKBP10):c.906C>A (p.Leu302=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11	GBenign
Select item 684402	NM_021939.4(FKBP10):c.1014C>T (p.Arg338=)	FKBP10	Single nucleotide variant (synonymous variant)	FKBP10-related disorder +2 more	GBenign/Likely benign
Select item 684403	NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn)	FKBP10 (D508N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance