"Ambry Genetics"[submitter] AND "COL1A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1740172	NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 1216843	NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GLikely benign
Select item 579236	NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)	COL1A1 (D1457N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1123226	NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1740034	NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)	COL1A1 (G1455S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1739961	NM_000088.4(COL1A1):c.4356G>A (p.Gln1452=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739829	NM_000088.4(COL1A1):c.4338C>T (p.Asp1446=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739748	NM_000088.4(COL1A1):c.4329C>T (p.Ala1443=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2182621	NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GBenign/Likely benign
Select item 942286	NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn)	COL1A1 (D1441N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 702816	NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GLikely benign
Select item 1646165	NM_000088.4(COL1A1):c.4302C>T (p.Thr1434=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 456789	NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 2566920	NM_000088.4(COL1A1):c.4260A>T (p.Gly1420=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 456788	NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +3 more	GBenign/Likely benign
Select item 1739041	NM_000088.4(COL1A1):c.4248+5G>C	COL1A1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 577333	NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1101014	NM_000088.4(COL1A1):c.4236C>T (p.Val1412=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 1488712	NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile)	COL1A1 (V1410I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1144778	NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 779770	NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GConflicting classifications of pathogenicity
Select item 450185	NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	COL1A1 (R1399H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GConflicting classifications of pathogenicity
Select item 707290	NM_000088.4(COL1A1):c.4188C>T (p.Ile1396=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1738497	NM_000088.4(COL1A1):c.4180_4182del (p.Asn1394del)	COL1A1 (N1394del)	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 379751	NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)	COL1A1 (N1394S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 more	GBenign/Likely benign
Select item 281778	NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 662240	NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)	COL1A1 (L1390F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 1737973	NM_000088.4(COL1A1):c.4119C>T (p.Ser1373=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 383766	NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1737661	NM_000088.4(COL1A1):c.4086C>A (p.Ala1362=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1737484	NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566924	NM_000088.4(COL1A1):c.4056G>T (p.Leu1352=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1737391	NM_000088.4(COL1A1):c.4053G>A (p.Gln1351=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1592574	NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=)	COL1A1	Single nucleotide variant (synonymous variant)	COL1A1-related condition +2 more	GLikely benign
Select item 1108581	NM_000088.4(COL1A1):c.4038C>T (p.Ala1346=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 800265	NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn)	COL1A1 (D1344N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1737164	NM_000088.4(COL1A1):c.4029C>A (p.Ser1343=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1737130	NM_000088.4(COL1A1):c.4023G>A (p.Gln1341=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 235708	NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)	COL1A1 (G1340S)	Single nucleotide variant (missense variant)	COL1A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 526877	NM_000088.4(COL1A1):c.4017C>A (p.Gly1339=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1737022	NM_000088.4(COL1A1):c.4011G>A (p.Glu1337=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 444409	NM_000088.4(COL1A1):c.4005+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +11 more	GUncertain significance
Select item 578894	NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	COL1A1 (D1332N)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +8 more	GConflicting classifications of pathogenicity
Select item 683675	NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1014099	NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys)	COL1A1 (S1329C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 2178813	NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 671957	NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +3 more	GBenign/Likely benign
Select item 1736585	NM_000088.4(COL1A1):c.3969T>C (p.His1323=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2586953	NM_000088.4(COL1A1):c.3966G>A (p.Arg1322=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 456783	NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)	COL1A1 (R1322K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 1021551	NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del)	COL1A1 (P1318del)	Deletion (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 35922	NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GBenign/Likely benign
Select item 1195688	NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 456779	NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys)	COL1A1 (N1283K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 661888	NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1314906	NM_000088.4(COL1A1):c.3798C>T (p.His1266=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1734884	NM_000088.4(COL1A1):c.3786C>A (p.Leu1262=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1424024	NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)	COL1A1 (R1260H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1361416	NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys)	COL1A1 (R1257C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 225320	NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	COL1A1 (A1256T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1734712	NM_000088.4(COL1A1):c.3765C>T (p.Pro1255=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734708	NM_000088.4(COL1A1):c.3765C>A (p.Pro1255=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734611	NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)	COL1A1 (K1253R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 891837	NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)	COL1A1 (R1252H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GConflicting classifications of pathogenicity
Select item 1734518	NM_000088.4(COL1A1):c.3747G>A (p.Glu1249=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734497	NM_000088.4(COL1A1):c.3744A>T (p.Pro1248=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 287066	NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)	COL1A1 (I1245F)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +5 more	GConflicting classifications of pathogenicity
Select item 508685	NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GLikely benign
Select item 456778	NM_000088.4(COL1A1):c.3726C>T (p.Ile1242=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 512808	NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 426558	NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)	COL1A1 (R1227H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1733822	NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)	COL1A1 (R1225H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1733805	NM_000088.4(COL1A1):c.3672T>C (p.Val1224=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733736	NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met)	COL1A1 (V1223M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733572	NM_000088.4(COL1A1):c.3649C>A (p.Arg1217=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 324099	NM_000088.4(COL1A1):c.3630C>T (p.His1210=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +4 more	GConflicting classifications of pathogenicity
Select item 1733358	NM_000088.4(COL1A1):c.3624G>A (p.Lys1208=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733331	NM_000088.4(COL1A1):c.3621G>A (p.Glu1207=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 889393	NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)	COL1A1 (E1207K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1733106	NM_000088.4(COL1A1):c.3601C>T (p.Leu1201=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733011	NM_000088.4(COL1A1):c.3594C>T (p.Phe1198=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 740501	NM_000088.4(COL1A1):c.3588C>T (p.Phe1196=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1732668	NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys)	COL1A1 (G1187C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1732496	NM_000088.4(COL1A1):c.3543C>A (p.Gly1181=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1732466	NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GBenign/Likely benign
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Infantile cortical hyperostosis +8 more	GUncertain significance
Select item 858087	NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys)	COL1A1 (R1170C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 509902	NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +5 more	GLikely benign
Select item 1732077	NM_000088.4(COL1A1):c.3501T>C (p.Pro1167=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586950	NM_000088.4(COL1A1):c.3495T>C (p.Pro1165=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1731939	NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)	COL1A1 (P1164H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 456771	NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 515370	NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GLikely benign
Select item 324100	NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +6 more	GBenign
Select item 1577983	NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1731293	NM_000088.4(COL1A1):c.3424-4C>T	COL1A1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 456770	NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +5 more	GConflicting classifications of pathogenicity
Select item 2452654	NM_000088.4(COL1A1):c.3402C>T (p.Ala1134=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2538173	NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp)	COL1A1 (G1124D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 772515	NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity

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