"GeneDx"[submitter] AND "P3H1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 873598	NM_022356.4(P3H1):c.*257G>A	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis Imperfecta, Recessive +2 more	GBenign
Select item 873600	NM_022356.4(P3H1):c.*77C>T	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis Imperfecta, Recessive +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 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 194557	NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)	P3H1 (P718A)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
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 388930	NM_022356.4(P3H1):c.2115C>T (p.Leu705=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 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 1292506	NM_022356.4(P3H1):c.2056-157C>T	P3H1 (T773I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2572759	NM_022356.4(P3H1):c.2055+86A>G	P3H1 (K714R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 8 +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)	P3H1-related disorder +2 more	GBenign/Likely benign
Select item 504079	NM_001243246.2(P3H1):c.2068_2086dup (p.Trp696delinsSerSerGlyTer)	P3H1	Microsatellite (nonsense)	not specified	GUncertain significance
Select item 1259	NM_022356.4(P3H1):c.2055+18G>A	P3H1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not specified +1 more	GBenign
Select item 440020	NM_022356.4(P3H1):c.2055+13C>G	P3H1 (R690G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
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 650310	NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala)	P3H1 (T655A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 468979	NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)	P3H1 (Q644K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1700934	NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly)	P3H1 (E640G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 379422	NM_022356.4(P3H1):c.1915-20T>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +1 more	GBenign
Select item 1213459	NM_022356.4(P3H1):c.1915-23C>G	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675188	NM_022356.4(P3H1):c.1914+109G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674901	NM_022356.4(P3H1):c.1839-30G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 8 +1 more	GBenign
Select item 1190325	NM_022356.4(P3H1):c.1839-67G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667664	NM_022356.4(P3H1):c.1839-141A>G	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188653	NM_022356.4(P3H1):c.1839-177del	P3H1	Deletion (intron variant)	not provided	GLikely benign
Select item 1218193	NM_022356.4(P3H1):c.1838+197C>T	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259499	NM_022356.4(P3H1):c.1838+182G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674900	NM_022356.4(P3H1):c.1838+74T>C	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255309	NM_022356.4(P3H1):c.1838+66C>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 578914	NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys)	P3H1 (R610C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379771	NM_022356.4(P3H1):c.1812C>T (p.Pro604=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 429864	NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn)	P3H1 (K602N)	Single nucleotide variant (missense variant)	P3H1-related disorder +3 more	GUncertain significance
Select item 706065	NM_022356.4(P3H1):c.1795G>A (p.Val599Met)	P3H1 (V599M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 468973	NM_022356.4(P3H1):c.1761C>T (p.His587=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 731939	NM_022356.4(P3H1):c.1740G>A (p.Lys580=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +2 more	GLikely benign
Select item 1193445	NM_022356.4(P3H1):c.1721-101G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230088	NM_022356.4(P3H1):c.1720+299A>G	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667663	NM_022356.4(P3H1):c.1720+286T>C	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186357	NM_022356.4(P3H1):c.1720+284G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213645	NM_022356.4(P3H1):c.1720+261C>T	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186627	NM_022356.4(P3H1):c.1720+241G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227587	NM_022356.4(P3H1):c.1720+52C>T	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 468972	NM_022356.4(P3H1):c.1720+4G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 386781	NM_022356.4(P3H1):c.1716C>T (p.Ile572=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 379421	NM_022356.4(P3H1):c.1647G>A (p.Met549Ile)	P3H1 (M549I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 468970	NM_022356.4(P3H1):c.1626G>A (p.Thr542=)	P3H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1269646	NM_022356.4(P3H1):c.1570-176T>C	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668873	NM_022356.4(P3H1):c.1570-203T>C	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667662	NM_022356.4(P3H1):c.1570-294T>C	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187254	NM_022356.4(P3H1):c.1570-314_1570-313insCC	P3H1	Insertion (intron variant)	not provided	GLikely benign
Select item 1242600	NM_022356.4(P3H1):c.1570-314G>C	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186493	NM_022356.4(P3H1):c.1570-318_1570-317insCA	P3H1	Insertion (intron variant)	not provided	GLikely benign
Select item 1235014	NM_022356.4(P3H1):c.1570-320_1570-319insT	P3H1	Insertion (intron variant)	not provided	GBenign
Select item 1261381	NM_022356.4(P3H1):c.1570-323A>C	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186642	NM_022356.4(P3H1):c.1570-324_1570-323insCCC	P3H1	Insertion (intron variant)	not provided	GLikely benign
Select item 1205049	NM_022356.4(P3H1):c.1570-327G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294187	NM_022356.4(P3H1):c.1569+43G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379770	NM_022356.4(P3H1):c.1569+3A>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 280529	NM_022356.4(P3H1):c.1569+1G>A	P3H1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1306461	NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr)	P3H1 (N510T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 289042	NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)	P3H1 (N510S)	Single nucleotide variant (missense variant)	P3H1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 772424	NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg)	P3H1 (P506R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GLikely benign
Select item 426382	NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)	P3H1 (G502R)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 536818	NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp)	P3H1 (R501W)	Single nucleotide variant (missense variant)	P3H1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 387904	NM_022356.4(P3H1):c.1473+5G>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 515888	NM_022356.4(P3H1):c.1425C>T (p.Asp475=)	P3H1	Single nucleotide variant (synonymous variant)	P3H1-related disorder +2 more	GLikely benign
Select item 1261193	NM_022356.4(P3H1):c.1346-284G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201331	NM_022356.4(P3H1):c.1345+225G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 283522	NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)	P3H1 (D441G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1131760	NM_022356.4(P3H1):c.1308C>T (p.Thr436=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +1 more	GLikely benign
Select item 379769	NM_022356.4(P3H1):c.1284C>T (p.Ile428=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 451264	NM_022356.4(P3H1):c.1243G>A (p.Val415Ile)	P3H1 (V415I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 379643	NM_022356.4(P3H1):c.1233G>A (p.Arg411=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 1209140	NM_022356.4(P3H1):c.1171-154G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247565	NM_022356.4(P3H1):c.1170+32G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291047	NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)	P3H1 (E374*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 1244061	NM_022356.4(P3H1):c.1081-132AG[2]	P3H1	Microsatellite (intron variant)	not provided	GBenign
Select item 1185791	NM_022356.4(P3H1):c.1081-254G>T	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220774	NM_022356.4(P3H1):c.1080+147G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219010	NM_022356.4(P3H1):c.1080+115A>G	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190335	NM_022356.4(P3H1):c.1080+42C>T	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253	NM_022356.4(P3H1):c.1080+1G>T	P3H1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta +3 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 379444	NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg)	P3H1 (G349R)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 379768	NM_022356.4(P3H1):c.1026C>T (p.Ala342=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis Imperfecta, Recessive +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 +3 more	GConflicting classifications of pathogenicity
Select item 569598	NM_022356.4(P3H1):c.953C>T (p.Thr318Ile)	P3H1 (T318I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 676005	NM_022356.4(P3H1):c.941-52A>C	P3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186429	NM_022356.4(P3H1):c.941-93G>C	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 440019	NM_022356.4(P3H1):c.940+90A>G	P3H1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1076376	NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)	P3H1 (Q280*)	Single nucleotide variant (nonsense)	P3H1-related disorder +2 more	GPathogenic
Select item 196510	NM_022356.4(P3H1):c.756C>T (p.Tyr252=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 8 +1 more	GConflicting classifications of pathogenicity
Select item 468988	NM_022356.4(P3H1):c.693G>A (p.Ala231=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis Imperfecta, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 389151	NM_022356.4(P3H1):c.619-5A>C	P3H1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1191853	NM_022356.4(P3H1):c.619-47G>T	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211279	NM_022356.4(P3H1):c.618+165G>A	P3H1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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