"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702030	NM_022356.4(P3H1):c.*5G>A	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta	GUncertain significance
Select item 536810	NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys)	P3H1 (E719K)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 1702037	NM_022356.4(P3H1):c.2154C>T (p.Pro718=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GConflicting classifications of pathogenicity
Select item 1702036	NM_022356.4(P3H1):c.2001G>C (p.Gly667=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702035	NM_022356.4(P3H1):c.1931A>C (p.Gln644Pro)	P3H1 (Q644P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 468977	NM_022356.4(P3H1):c.1838+9G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +1 more	GConflicting classifications of pathogenicity
Select item 468975	NM_022356.4(P3H1):c.1838+5G>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +2 more	GUncertain significance
Select item 379771	NM_022356.4(P3H1):c.1812C>T (p.Pro604=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 1702034	NM_022356.4(P3H1):c.1667del (p.Asp556fs)	P3H1 (D556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8 +1 more	GLikely pathogenic
Select item 468971	NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys)	P3H1 (R554C)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +3 more	GUncertain significance
Select item 468970	NM_022356.4(P3H1):c.1626G>A (p.Thr542=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 379770	NM_022356.4(P3H1):c.1569+3A>G	P3H1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 468968	NM_022356.4(P3H1):c.1428C>T (p.Gly476=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis Imperfecta, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 283522	NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)	P3H1 (D441G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 379769	NM_022356.4(P3H1):c.1284C>T (p.Ile428=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 379643	NM_022356.4(P3H1):c.1233G>A (p.Arg411=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 1702032	NM_022356.4(P3H1):c.1223+9C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance
Select item 706626	NM_022356.4(P3H1):c.1215G>A (p.Glu405=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1702031	NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)	P3H1 (R366*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 1253	NM_022356.4(P3H1):c.1080+1G>T	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8 +2 more	GPathogenic
Select item 288132	NM_022356.4(P3H1):c.1071C>T (p.Gly357=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 379768	NM_022356.4(P3H1):c.1026C>T (p.Ala342=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 468990	NM_022356.4(P3H1):c.978C>T (p.Thr326=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 468985	NM_022356.4(P3H1):c.611C>A (p.Pro204His)	P3H1 (P204H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 1702039	NM_022356.4(P3H1):c.440A>G (p.Asn147Ser)	P3H1 (N147S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702038	NM_022356.4(P3H1):c.368G>C (p.Cys123Ser)	P3H1 (C123S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 379443	NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)	P3H1 (A47S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +3 more	GConflicting classifications of pathogenicity
Select item 536820	NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)	P3H1 (E27D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 28