ClinVar for Gene (Select 64175) - ClinVar - NCBI

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	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 3355448	NM_022356.4(P3H1):c.1651T>C (p.Ser551Pro)	P3H1 (S551P)	Single nucleotide variant (missense variant)	P3H1-related disorder	GUncertain significance
Select item 3344566	NM_022356.4(P3H1):c.347_358del (p.Arg116_Cys119del)	P3H1	Deletion (inframe_deletion +1 more)	P3H1-related disorder	GUncertain significance
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 3303819	NM_022356.4(P3H1):c.1583G>A (p.Gly528Asp)	P3H1 (G528D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303818	NM_022356.4(P3H1):c.1886T>C (p.Phe629Ser)	P3H1 (F629S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303817	NM_022356.4(P3H1):c.85G>A (p.Gly29Arg)	P3H1 (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255599	NM_022356.4(P3H1):c.1570-20_1572del	P3H1	Deletion (splice acceptor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 3251738	NM_022356.4(P3H1):c.35T>G (p.Leu12Arg)	P3H1 (L12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251603	NM_022356.4(P3H1):c.2056-187C>T	P3H1 (A763V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3247800	NC_000001.10:g.(?_42922237)_(43424429_?)dup	C1orf50, CCDC30 +9 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 3247799	NC_000001.10:g.(?_43200757)_(43424429_?)del	C1orf50, CLDN19 +5 more	Deletion	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
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 3207723	NM_022356.4(P3H1):c.92G>C (p.Gly31Ala)	P3H1 (G31A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207722	NM_022356.4(P3H1):c.40G>C (p.Ala14Pro)	P3H1 (A14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207721	NM_022356.4(P3H1):c.377C>G (p.Pro126Arg)	P3H1 (P126R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207719	NM_022356.4(P3H1):c.1928C>G (p.Pro643Arg)	P3H1 (P643R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207718	NM_022356.4(P3H1):c.1695T>G (p.His565Gln)	P3H1 (H565Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207717	NM_022356.4(P3H1):c.1426G>T (p.Gly476Cys)	P3H1 (G476C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207716	NM_022356.4(P3H1):c.1138T>C (p.Tyr380His)	P3H1 (Y380H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207715	NM_022356.4(P3H1):c.1051G>A (p.Glu351Lys)	P3H1 (E351K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068758	NM_022356.4(P3H1):c.26T>C (p.Leu9Pro)	P3H1 (L9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3055190	NM_022356.4(P3H1):c.2056-173C>T	P3H1 (P768S)	Single nucleotide variant (missense variant +1 more)	P3H1-related disorder	GLikely benign
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
Select item 2919296	NM_022356.4(P3H1):c.1842C>T (p.Ala614=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
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 2915404	NM_022356.4(P3H1):c.619-17C>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2915084	NM_022356.4(P3H1):c.1367del (p.Gly456fs)	P3H1 (G456fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2914023	NM_022356.4(P3H1):c.1080+12C>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2913020	NM_022356.4(P3H1):c.1473+4A>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2912591	NM_022356.4(P3H1):c.1569+17G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2912575	NM_022356.4(P3H1):c.684A>G (p.Leu228=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2912129	NM_022356.4(P3H1):c.1609C>T (p.Leu537=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2911888	NM_022356.4(P3H1):c.2028C>T (p.Phe676=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2909058	NM_022356.4(P3H1):c.849C>T (p.Val283=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2908231	NM_022356.4(P3H1):c.147G>A (p.Gly49=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2908082	NM_022356.4(P3H1):c.1721-5C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2904417	NM_022356.4(P3H1):c.837G>A (p.Lys279=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2903678	NM_022356.4(P3H1):c.739G>T (p.Glu247Ter)	P3H1 (E247*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2901935	NM_022356.4(P3H1):c.411G>A (p.Glu137=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2901527	NM_022356.4(P3H1):c.1569+15G>C	P3H1	Single nucleotide variant (intron 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 2901276	NM_022356.4(P3H1):c.809-1G>A	P3H1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 2899463	NM_022356.4(P3H1):c.1533A>G (p.Glu511=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2898719	NM_022356.4(P3H1):c.1473+11C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2895192	NM_022356.4(P3H1):c.1345+7G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2893907	NM_022356.4(P3H1):c.618+18C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2892444	NM_022356.4(P3H1):c.2206C>T (p.Leu736=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2892162	NM_022356.4(P3H1):c.1473+16T>C	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2892136	NM_022356.4(P3H1):c.1395C>G (p.Leu465=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign

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