ClinVar for MedGen (Select 410075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891889	NM_022356.4(P3H1):c.1738A>G (p.Lys580Glu)	P3H1 (K580E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 3780076	NM_022356.4(P3H1):c.912T>G (p.Tyr304Ter)	P3H1 (Y304*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3780075	NM_022356.4(P3H1):c.2055+32G>A	P3H1 (W696*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 3766740	NM_022356.4(P3H1):c.2056-90C>A	P3H1 (N795K)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 3713924	NM_022356.4(P3H1):c.297G>C (p.Ser99=)	LOC129930352, P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3713687	NM_022356.4(P3H1):c.1570-11C>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3711988	NM_022356.4(P3H1):c.1227A>G (p.Ser409=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3710897	NM_022356.4(P3H1):c.1047A>G (p.Gly349=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3710120	NM_022356.4(P3H1):c.1170+20C>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3706501	NM_022356.4(P3H1):c.141G>T (p.Ala47=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3705333	NM_022356.4(P3H1):c.2196C>T (p.Pro732=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3705111	NM_022356.4(P3H1):c.1389C>G (p.Ser463=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3703322	NM_022356.4(P3H1):c.1838+10G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3703116	NM_022356.4(P3H1):c.619-17C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3703003	NM_022356.4(P3H1):c.1570-13G>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3696868	NM_022356.4(P3H1):c.192C>T (p.Ser64=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3687716	NM_022356.4(P3H1):c.1170+10G>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3681002	NM_022356.4(P3H1):c.126G>A (p.Gly42=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3678529	NM_022356.4(P3H1):c.1170+12T>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3676993	NM_022356.4(P3H1):c.349_358del (p.Ala117fs)	P3H1 (A117fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 3674063	NM_022356.4(P3H1):c.1720+1G>T	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3663848	NM_022356.4(P3H1):c.1704C>T (p.Cys568=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3662588	NM_022356.4(P3H1):c.1638del (p.Arg547fs)	P3H1 (R547fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 3661867	NM_022356.4(P3H1):c.2056-18A>G	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3661249	NM_022356.4(P3H1):c.1223+15G>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3651569	NM_022356.4(P3H1):c.1656C>T (p.Tyr552=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3651081	NM_022356.4(P3H1):c.22C>T (p.Leu8=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3644355	NM_022356.4(P3H1):c.159G>T (p.Gly53=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3640943	NM_022356.4(P3H1):c.941-15_941-13del	P3H1	Microsatellite (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3620104	NM_022356.4(P3H1):c.9A>G (p.Val3=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3617126	NM_022356.4(P3H1):c.1452G>A (p.Gln484=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3615836	NM_022356.4(P3H1):c.1696C>T (p.Leu566=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3613723	NM_022356.4(P3H1):c.1720+14C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3612954	NM_022356.4(P3H1):c.1941A>T (p.Arg647Ser)	P3H1 (R647S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 3606753	NM_022356.4(P3H1):c.312G>C (p.Leu104=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3584176	NM_022356.4(P3H1):c.121G>T (p.Glu41Ter)	P3H1 (E41*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584160	NM_022356.4(P3H1):c.465+2T>G	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584152	NM_022356.4(P3H1):c.484del (p.Ala162fs)	P3H1 (A162fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 3584148	NM_022356.4(P3H1):c.618+1G>A	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584116	NM_022356.4(P3H1):c.1075del (p.Arg359fs)	P3H1 (R359fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584103	NM_022356.4(P3H1):c.1120del (p.Glu374fs)	P3H1 (E374fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584089	NM_022356.4(P3H1):c.1197del (p.Lys401fs)	P3H1 (K401fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584081	NM_022356.4(P3H1):c.1224-2_1271dup	P3H1	Duplication (splice acceptor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584059	NM_022356.4(P3H1):c.2002C>T (p.Gln668Ter)	P3H1 (Q668*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3584057	NM_022356.4(P3H1):c.2056-16G>A	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 3584051	NM_022356.4(P3H1):c.2062del (p.Val688fs)	P3H1 (G694fs +1 more)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic/Likely pathogenic
Select item 3584047	NM_022356.4(P3H1):c.2077_2078del (p.Leu693fs)	P3H1 (L693fs)	Deletion (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely pathogenic
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 3341389	NM_022356.4(P3H1):c.2065C>T (p.Gln689Ter)	P3H1 (A695V +1 more)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3255599	NM_022356.4(P3H1):c.1570-20_1572del	P3H1	Deletion (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 3019693	NM_022356.4(P3H1):c.1720+1G>A	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3019082	NM_022356.4(P3H1):c.1839-9C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3018340	NM_022356.4(P3H1):c.1260G>A (p.Glu420=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3017785	NM_022356.4(P3H1):c.2024G>A (p.Trp675Ter)	P3H1 (W675*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GPathogenic/Likely pathogenic
Select item 3017161	NM_022356.4(P3H1):c.678C>G (p.Pro226=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3016734	NM_022356.4(P3H1):c.1770C>T (p.Asn590=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3014907	NM_022356.4(P3H1):c.2208A>C (p.Leu736=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3014839	NM_022356.4(P3H1):c.1140T>C (p.Tyr380=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3014627	NM_022356.4(P3H1):c.1224-10G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3011171	NM_022356.4(P3H1):c.1894C>T (p.Leu632=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3009875	NM_022356.4(P3H1):c.1223+14A>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3009862	NM_022356.4(P3H1):c.808+11T>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3009631	NM_022356.4(P3H1):c.369C>T (p.Cys123=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3009341	NM_022356.4(P3H1):c.2131C>T (p.Leu711=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3007847	NM_022356.4(P3H1):c.384C>T (p.Ala128=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3007110	NM_022356.4(P3H1):c.309C>T (p.Ala103=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3007097	NM_022356.4(P3H1):c.1474-5T>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3006309	NM_022356.4(P3H1):c.495A>C (p.Ala165=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3006043	NM_022356.4(P3H1):c.1170+13A>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3005030	NM_022356.4(P3H1):c.619-16T>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3003139	NM_022356.4(P3H1):c.1674C>G (p.Pro558=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3001444	NM_022356.4(P3H1):c.465+20C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 3000195	NM_022356.4(P3H1):c.1914+2T>C	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 2996302	NM_022356.4(P3H1):c.2055+15A>T	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2995535	NM_022356.4(P3H1):c.930C>T (p.Ala310=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2993461	NM_022356.4(P3H1):c.696G>A (p.Leu232=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2988626	NM_022356.4(P3H1):c.483A>G (p.Lys161=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2987642	NM_022356.4(P3H1):c.940+8C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2987480	NM_022356.4(P3H1):c.825C>T (p.Val275=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2986053	NM_022356.4(P3H1):c.1998G>A (p.Arg666=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2984902	NM_022356.4(P3H1):c.336C>G (p.Gly112=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2984837	NM_022356.4(P3H1):c.1188A>G (p.Glu396=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2984329	NM_022356.4(P3H1):c.1005G>A (p.Glu335=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2984073	NM_022356.4(P3H1):c.1914+15G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2982602	NM_022356.4(P3H1):c.792C>G (p.Leu264=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2977942	NM_022356.4(P3H1):c.1977T>C (p.His659=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
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 2976072	NM_022356.4(P3H1):c.694C>T (p.Leu232=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2966166	NM_022356.4(P3H1):c.95_99delinsA (p.Met32fs)	P3H1 (M32fs)	Indel (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2964549	NM_022356.4(P3H1):c.1170+17G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2964300	NM_022356.4(P3H1):c.1408C>T (p.Gln470Ter)	P3H1 (Q470*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2959189	NM_022356.4(P3H1):c.1205_1206del (p.Arg402fs)	P3H1 (R402fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2957606	NM_022356.4(P3H1):c.171C>T (p.Ser57=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2957578	NM_022356.4(P3H1):c.808+10G>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2956316	NM_022356.4(P3H1):c.378G>C (p.Pro126=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2920890	NM_022356.4(P3H1):c.940+15C>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2919635	NM_022356.4(P3H1):c.1171-4T>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2919423	NM_022356.4(P3H1):c.1720+20C>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign

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