Related gene-specific medical variations for Gene (Select 64175) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382505	NM_022356.4(P3H1):c.1474-2A>G	P3H1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3247786	NC_000001.10:g.(?_43212368)_(43223613_?)del	P3H1	Deletion	Osteogenesis imperfecta type 8	GPathogenic
Select item 3247785	NC_000001.10:g.(?_43218188)_(43218355_?)del	P3H1	Deletion	Osteogenesis imperfecta type 8	GPathogenic
Select item 2976317	NM_022356.4(P3H1):c.273G>A (p.Trp91Ter)	LOC129930352, P3H1 (W91*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2918849	NM_022356.4(P3H1):c.217C>T (p.Leu73=)	LOC129930352, P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2901497	NM_022356.4(P3H1):c.297G>A (p.Ser99=)	LOC129930352, P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2689647	NM_022356.4(P3H1):c.950A>T (p.Tyr317Phe)	P3H1 (Y317F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2467606	NM_022356.4(P3H1):c.274T>C (p.Ser92Pro)	LOC129930352, P3H1 (S92P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1965090	NM_022356.4(P3H1):c.235T>C (p.Cys79Arg)	LOC129930352, P3H1 (C79R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1930400	NM_022356.4(P3H1):c.208_216dup (p.Arg72_Leu73insAlaLeuArg)	LOC129930352, P3H1	Duplication (inframe_insertion)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1713144	NM_022356.4(P3H1):c.1224-79G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 1506695	NM_022356.4(P3H1):c.272G>C (p.Trp91Ser)	LOC129930352, P3H1 (W91S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1472301	NM_022356.4(P3H1):c.200C>G (p.Ala67Gly)	LOC129930352, P3H1 (A67G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1421900	NM_022356.4(P3H1):c.278C>T (p.Pro93Leu)	LOC129930352, P3H1 (P93L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1388430	NM_022356.4(P3H1):c.211C>T (p.Leu71Phe)	LOC129930352, P3H1 (L71F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 1339620	NM_022356.4(P3H1):c.221G>A (p.Arg74His)	LOC129930352, P3H1 (R74H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275241	NM_022356.4(P3H1):c.465+102G>A	LOC129930351, P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994299	NM_022356.4(P3H1):c.1829G>A (p.Arg610His)	P3H1 (R610H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 950238	NM_022356.4(P3H1):c.239C>T (p.Ala80Val)	LOC129930352, P3H1 (A80V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 817615	NM_022356.4(P3H1):c.232del (p.Gln78fs)	LOC129930352, P3H1 (Q78fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 811717	NM_022356.4(P3H1):c.1909G>A (p.Val637Met)	P3H1 (V637M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 752056	NM_022356.4(P3H1):c.207C>T (p.Arg69=)	LOC129930352, P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 711645	NM_022356.4(P3H1):c.219G>C (p.Leu73=)	P3H1, LOC129930352	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 659383	NM_022356.4(P3H1):c.284C>A (p.Pro95Gln)	LOC129930352, P3H1 (P95Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 635408	NM_022356.4(P3H1):c.232C>T (p.Gln78Ter)	LOC129930352, P3H1 (Q78*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta	GPathogenic
Select item 548470	NM_022356.4(P3H1):c.462C>G (p.Phe154Leu)	P3H1 (F154L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 522681	NM_022356.4(P3H1):c.646_650del (p.Tyr216fs)	P3H1 (Y216fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 468980	NM_022356.4(P3H1):c.210C>T (p.Ala70=)	LOC129930352, P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign

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Links from Gene

Items: 28