P3H1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 873597	NM_022356.4(P3H1):c.*262C>T	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 873598	NM_022356.4(P3H1):c.*257G>A	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 8 +2 more	GBenign
Select item 873599	NM_022356.4(P3H1):c.*116C>T	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 873600	NM_022356.4(P3H1):c.*77C>T	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 8 +2 more	GConflicting classifications of pathogenicity
Select item 421364	NM_022356.4(P3H1):c.4_10del	P3H1	Deletion (3 prime UTR variant)	not specified	GLikely benign
Select item 1702030	NM_022356.4(P3H1):c.*5G>A	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta	GUncertain significance
Select item 2431638	NM_022356.4(P3H1):c.2209T>C (p.Ter737Arg)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
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 2201595	NM_022356.4(P3H1):c.2208A>G (p.Leu736=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	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 727990	NM_022356.4(P3H1):c.2198A>G (p.Lys733Arg)	P3H1 (K733R)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1514343	NM_022356.4(P3H1):c.2193_2194dup (p.Pro732fs)	P3H1 (P732fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 995680	NM_022356.4(P3H1):c.2190G>A (p.Ser730=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1491955	NM_022356.4(P3H1):c.2181C>T (p.Gly727=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2827796	NM_022356.4(P3H1):c.2176_2177del (p.Ser726fs)	P3H1 (S726fs)	Microsatellite (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely pathogenic
Select item 800999	NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)	P3H1 (L725fs)	Microsatellite (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GConflicting classifications of pathogenicity
Select item 2710010	NM_022356.4(P3H1):c.2169G>A (p.Glu723=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2733873	NM_022356.4(P3H1):c.2164C>T (p.Gln722Ter)	P3H1 (Q722*)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
Select item 288206	NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)	P3H1 (Q722K)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +2 more	GConflicting classifications of pathogenicity
Select item 1361320	NM_022356.4(P3H1):c.2154dup (p.Glu719fs)	P3H1 (E719fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
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 2740107	NM_022356.4(P3H1):c.2154C>G (p.Pro718=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2715030	NM_022356.4(P3H1):c.2154del (p.Glu719fs)	P3H1 (E719fs)	Deletion (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
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 194557	NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)	P3H1 (P718A)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +2 more	GConflicting classifications of pathogenicity
Select item 701068	NM_022356.4(P3H1):c.2148C>T (p.Gly716=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 194558	NM_022356.4(P3H1):c.2148= (p.Gly716=)	P3H1	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign/Likely benign
Select item 468981	NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)	P3H1 (G716A)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +2 more	GConflicting classifications of pathogenicity
Select item 1017074	NM_022356.4(P3H1):c.2146G>C (p.Gly716Arg)	P3H1 (G716R)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1595094	NM_022356.4(P3H1):c.2145G>A (p.Gln715=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1691307	NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter)	P3H1 (Q715*)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2098558	NM_022356.4(P3H1):c.2135A>T (p.Asp712Val)	P3H1 (D712V)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 684744	NM_022356.4(P3H1):c.2131dup (p.Leu711fs)	P3H1 (L711fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
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 2085350	NM_022356.4(P3H1):c.2130C>T (p.Pro710=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1505096	NM_022356.4(P3H1):c.2128C>T (p.Pro710Ser)	P3H1 (P710S)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2202263	NM_022356.4(P3H1):c.2124G>C (p.Glu708Asp)	P3H1 (E708D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 388930	NM_022356.4(P3H1):c.2115C>T (p.Leu705=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GBenign
Select item 1436993	NM_022356.4(P3H1):c.2110G>C (p.Asp704His)	P3H1 (D704H)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 874596	NM_022356.4(P3H1):c.2108T>C (p.Met703Thr)	P3H1 (M703T)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 546430	NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys)	P3H1 (E702K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1390172	NM_022356.4(P3H1):c.2101_2102insT (p.Glu701fs)	P3H1 (E701fs)	Insertion (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
Select item 874597	NM_022356.4(P3H1):c.2100A>G (p.Pro700=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GConflicting classifications of pathogenicity
Select item 2818397	NM_022356.4(P3H1):c.2099del (p.Pro700fs)	P3H1 (P700fs)	Deletion (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
Select item 1096217	NM_022356.4(P3H1):c.2091C>T (p.Leu697=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 452730	NM_022356.4(P3H1):c.2076C>G (p.Asp692Glu)	P3H1 (D692E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1487681	NM_022356.4(P3H1):c.2073T>A (p.Asp691Glu)	P3H1 (D691E)	Single nucleotide variant (stop lost +2 more)	Osteogenesis imperfecta type 8	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 2742511	NM_022356.4(P3H1):c.2061G>A (p.Arg687=)	P3H1 (G694S)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2006579	NM_022356.4(P3H1):c.2056-5T>A	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 2880662	NM_022356.4(P3H1):c.2056-8C>T	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2717366	NM_022356.4(P3H1):c.2056-15G>A	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1292506	NM_022356.4(P3H1):c.2056-157C>T	P3H1 (T773I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 3251603	NM_022356.4(P3H1):c.2056-187C>T	P3H1 (A763V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 440017	NM_022356.4(P3H1):c.2055+193G>A	P3H1 (G750R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GBenign/Likely benign
Select item 1049492	NM_022356.4(P3H1):c.2055+112G>A	P3H1 (E723K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2572759	NM_022356.4(P3H1):c.2055+86A>G	P3H1 (K714R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 674902	NM_022356.4(P3H1):c.2055+74T>A	P3H1 (F710Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 440016	NM_022356.4(P3H1):c.2055+70G>T	P3H1 (A709S)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GBenign/Likely benign
Select item 1330614	NM_022356.4(P3H1):c.2055+48G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 983060	NM_022356.4(P3H1):c.2055+41G>A	P3H1 (G699D)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 504079	NM_001243246.2(P3H1):c.2068_2086dup (p.Trp696delinsSerSerGlyTer)	P3H1	Microsatellite (nonsense)	not specified	GUncertain significance
Select item 1426696	NM_022356.4(P3H1):c.2055+13_2055+31del	P3H1 (R690fs)	Microsatellite (splice donor variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GConflicting classifications of pathogenicity
Select item 1259	NM_022356.4(P3H1):c.2055+18G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 379445	NM_022356.4(P3H1):c.2055+17C>T	P3H1 (A691V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +2 more	GBenign
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 2886422	NM_022356.4(P3H1):c.2055+14G>C	P3H1 (R690P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2722472	NM_022356.4(P3H1):c.2055+14G>A	P3H1 (R690Q)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1573846	NM_022356.4(P3H1):c.2055+13C>T	P3H1 (R690*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 875523	NM_022356.4(P3H1):c.2055+13C>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 440020	NM_022356.4(P3H1):c.2055+13C>G	P3H1 (R690G)	Single nucleotide variant (missense variant +1 more)	Osteogenesis Imperfecta, Recessive +2 more	GBenign/Likely benign
Select item 1595375	NM_022356.4(P3H1):c.2055+12T>C	P3H1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2820090	NM_022356.4(P3H1):c.2055+11C>T	P3H1 (A689V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2727311	NM_022356.4(P3H1):c.2055+10G>C	P3H1 (A689P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1418473	NM_022356.4(P3H1):c.2055+1G>A	P3H1 (V686M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8	GPathogenic
Select item 2114968	NM_022356.4(P3H1):c.2054G>T (p.Arg685Leu)	P3H1 (R685L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1342297	NM_022356.4(P3H1):c.2051_2054del (p.Glu684fs)	P3H1 (E684fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
Select item 1424220	NM_022356.4(P3H1):c.2053C>T (p.Arg685Trp)	P3H1 (R685W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 951822	NM_022356.4(P3H1):c.2050G>A (p.Glu684Lys)	P3H1 (E684K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 546499	NM_022356.4(P3H1):c.2042G>A (p.Arg681Gln)	P3H1 (R681Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632107	NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter)	P3H1 (R681*)	Single nucleotide variant (nonsense)	Osteogenesis Imperfecta, Recessive +1 more	GPathogenic/Likely pathogenic
Select item 536815	NM_022356.4(P3H1):c.2032C>A (p.Leu678Met)	P3H1 (L678M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 2763073	NM_022356.4(P3H1):c.2029dup (p.Thr677fs)	P3H1 (T677fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic
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 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 578399	NM_022356.4(P3H1):c.2024G>T (p.Trp675Leu)	P3H1 (W675L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2156600	NM_022356.4(P3H1):c.2022G>A (p.Leu674=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2797139	NM_022356.4(P3H1):c.2019C>T (p.Ala673=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 1112955	NM_022356.4(P3H1):c.2019C>A (p.Ala673=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2048979	NM_022356.4(P3H1):c.2017G>T (p.Ala673Ser)	P3H1 (A673S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1362869	NM_022356.4(P3H1):c.2017G>A (p.Ala673Thr)	P3H1 (A673T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8	GUncertain significance
Select item 1987999	NM_022356.4(P3H1):c.2016C>T (p.Ile672=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8	GLikely benign
Select item 2733874	NM_022356.4(P3H1):c.2014dup (p.Ile672fs)	P3H1 (I672fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 8	GPathogenic

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