"GeneDx"[submitter] AND "COL1A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 324056	NM_000088.4(COL1A1):c.*1233G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 324059	NM_000088.4(COL1A1):c.*1165C>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GConflicting classifications of pathogenicity
Select item 891321	NM_000088.4(COL1A1):c.*1088G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GBenign/Likely benign
Select item 1675293	NM_000088.4(COL1A1):c.*1050del	COL1A1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 324065	NM_000088.4(COL1A1):c.1026_1028del	COL1A1	Deletion (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1257603	NM_000088.4(COL1A1):c.*1026dup	COL1A1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 892515	NM_000088.4(COL1A1):c.*1027G>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1321533	NM_000088.4(COL1A1):c.*1026del	COL1A1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1239296	NM_000088.4(COL1A1):c.1025_1026del	COL1A1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 889152	NM_000088.4(COL1A1):c.*1011T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 324072	NM_000088.4(COL1A1):c.*744C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GBenign
Select item 324076	NM_000088.4(COL1A1):c.681_682insAGCA	COL1A1	Insertion (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1321544	NM_000088.4(COL1A1):c.*479C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1219079	NM_000088.4(COL1A1):c.*142del	COL1A1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 324093	NM_000088.4(COL1A1):c.*88T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GBenign
Select item 489278	NM_000088.4(COL1A1):c.*20G>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 1216334	NM_000088.4(COL1A1):c.*4C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1166697	NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu)	COL1A1 (F1463L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1740172	NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 649441	NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala)	COL1A1 (G1459A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324095	NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile)	COL1A1 (V1458I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GConflicting classifications of pathogenicity
Select item 1216843	NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 579236	NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)	COL1A1 (D1457N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 514301	NM_000088.4(COL1A1):c.4362C>T (p.Phe1454=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1691604	NM_000088.4(COL1A1):c.4361T>C (p.Phe1454Ser)	COL1A1 (F1454S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304034	NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr)	COL1A1 (D1451Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379245	NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile)	COL1A1 (V1447I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2574897	NM_000088.4(COL1A1):c.4338C>G (p.Asp1446Glu)	COL1A1 (D1446E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702816	NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1693708	NM_000088.4(COL1A1):c.4307G>A (p.Arg1436His)	COL1A1 (R1436H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 456789	NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1303486	NM_000088.4(COL1A1):c.4274C>T (p.Thr1425Ile)	COL1A1 (T1425I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 456788	NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 197918	NM_000088.4(COL1A1):c.4249-12G>A	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GBenign
Select item 451877	NM_000088.4(COL1A1):c.4245C>A (p.Cys1415Ter)	COL1A1 (C1415*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3372882	NM_000088.4(COL1A1):c.4234G>A (p.Val1412Ile)	COL1A1 (V1412I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663421	NM_000088.4(COL1A1):c.4213C>A (p.Arg1405Ser)	COL1A1 (R1405S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306141	NM_000088.4(COL1A1):c.4199C>A (p.Ala1400Asp)	COL1A1 (A1400D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450185	NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	COL1A1 (R1399H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 2575567	NM_000088.4(COL1A1):c.4189G>A (p.Glu1397Lys)	COL1A1 (E1397K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510768	NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 379751	NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)	COL1A1 (N1394S)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 281778	NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GBenign/Likely benign
Select item 759058	NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1306911	NM_000088.4(COL1A1):c.4141A>G (p.Thr1381Ala)	COL1A1 (T1381A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412969	NM_000088.4(COL1A1):c.4118G>C (p.Ser1373Thr)	COL1A1 (S1373T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383766	NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GBenign/Likely benign
Select item 280324	NM_000088.4(COL1A1):c.4110C>A (p.Cys1370Ter)	COL1A1 (C1370*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1312135	NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn)	COL1A1 (T1367N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1056758	NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln)	COL1A1 (E1361Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 493218	NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys)	COL1A1 (E1361K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 509826	NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 949148	NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)	COL1A1 (R1356H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1433447	NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys)	COL1A1 (R1356C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1044702	NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val)	COL1A1 (L1352V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2138066	NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter)	COL1A1 (Q1351*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 423422	NM_000088.4(COL1A1):c.4035del (p.Ala1346fs)	COL1A1 (A1346fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 800265	NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn)	COL1A1 (D1344N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2442588	NM_000088.4(COL1A1):c.4019G>A (p.Gly1340Asp)	COL1A1 (G1340D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235708	NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)	COL1A1 (G1340S)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 390713	NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +9 more	GBenign/Likely benign
Select item 1208277	NM_000088.4(COL1A1):c.4006-110G>A	COL1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 810980	NM_000088.4(COL1A1):c.4005+44G>A	COL1A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1211860	NM_000088.4(COL1A1):c.4005+4C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 578894	NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	COL1A1 (D1332N)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 683675	NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 392909	NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser)	COL1A1 (G1327S)	Single nucleotide variant (missense 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)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 456783	NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys)	COL1A1 (R1322K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 593325	NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile)	COL1A1 (S1315I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 456781	NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter)	COL1A1 (W1312*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 1074006	NM_000088.4(COL1A1):c.3910C>T (p.Gln1304Ter)	COL1A1 (Q1304*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1211447	NM_000088.4(COL1A1):c.3903C>T (p.Tyr1301=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430899	NM_000088.4(COL1A1):c.3898G>T (p.Val1300Leu)	COL1A1 (V1300L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 35922	NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1195688	NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GBenign/Likely benign
Select item 432942	NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu)	COL1A1 (V1289L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 456779	NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys)	COL1A1 (N1283K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 661888	NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 658427	NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)	COL1A1 (G1281V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1188550	NM_000088.4(COL1A1):c.3827T>A (p.Ile1276Asn)	COL1A1 (I1276N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 425626	NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)	COL1A1 (G1272V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 324098	NM_000088.4(COL1A1):c.3815-12G>T	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GConflicting classifications of pathogenicity
Select item 674809	NM_000088.4(COL1A1):c.3815-35T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 2430600	NM_000088.4(COL1A1):c.3814+1G>T	COL1A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1314906	NM_000088.4(COL1A1):c.3798C>T (p.His1266=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +2 more	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 225320	NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	COL1A1 (A1256T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GConflicting classifications of pathogenicity
Select item 891837	NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)	COL1A1 (R1252H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1037654	NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys)	COL1A1 (R1252C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287066	NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)	COL1A1 (I1245F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 682242	NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1351029	NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys)	COL1A1 (E1243K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 508685	NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1700991	NM_000088.4(COL1A1):c.3713T>A (p.Leu1238Gln)	COL1A1 (L1238Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 456777	NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys)	COL1A1 (E1230K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 512808	NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +2 more	GLikely benign
Select item 426558	NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)	COL1A1 (R1227H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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