ClinVar for MedGen (Select 1645042) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779133	NM_000088.4(COL1A1):c.365C>T (p.Pro122Leu)	COL1A1 (P122L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type	GUncertain significance
Select item 3779132	NM_000088.4(COL1A1):c.2324C>A (p.Ala775Asp)	COL1A1 (A775D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type	GUncertain significance
Select item 3764675	NM_000088.4(COL1A1):c.751-1G>C	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +7 more	GLikely pathogenic
Select item 3582318	NM_000088.4(COL1A1):c.1563A>T (p.Gly521=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GUncertain significance
Select item 3382929	NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu)	COL1A1 (G212E)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +7 more	GLikely pathogenic
Select item 3382710	NM_000088.4(COL1A1):c.3263del	COL1A1	Deletion (splice acceptor variant)	Infantile cortical hyperostosis +7 more	GLikely pathogenic
Select item 3235187	NM_000088.4(COL1A1):c.3973T>A (p.Trp1325Arg)	COL1A1 (W1325R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type	GUncertain significance
Select item 2849807	NM_000088.4(COL1A1):c.159G>A (p.Trp53Ter)	COL1A1 (W53*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, arthrochalasia type +1 more	GPathogenic/Likely pathogenic
Select item 2780397	NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)	COL1A1 (G200S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GPathogenic/Likely pathogenic
Select item 2772795	NM_000088.4(COL1A1):c.2597del (p.Gly866fs)	COL1A1 (G866fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 1675161	NM_000089.4(COL1A2):c.432+2T>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, cardiac valvular type +5 more	GLikely pathogenic
Select item 1431093	NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	COL1A1 (P556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 1424024	NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)	COL1A1 (R1260H)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 1415517	NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys)	COL1A1 (R1111C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 more	GUncertain significance
Select item 1342741	NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg)	COL1A1 (G482R)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 1326536	NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)	COL1A1, LOC126862586 (E288K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311241	NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val)	COL1A1 (A735V)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1310225	NM_000088.4(COL1A1):c.646C>A (p.Pro216Thr)	COL1A1 (P216T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +8 more	GPathogenic/Likely pathogenic
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 1209278	NM_000088.4(COL1A1):c.133C>G (p.Leu45Val)	COL1A1 (L45V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1076006	NM_000088.4(COL1A1):c.288del (p.Asp97fs)	COL1A1 (D97fs)	Deletion (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 1068896	NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	COL1A2 (G919S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 1027156	NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)	COL1A1 (R370H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 973298	NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser)	COL1A2 (P1076S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GUncertain significance
Select item 972993	NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)	COL1A1 (P129S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
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 892515	NM_000088.4(COL1A1):c.*1027G>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 892126	NM_000088.4(COL1A1):c.804+15A>C	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 891900	NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)	COL1A1 (A1083T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 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, arthrochalasia type +7 more	GConflicting classifications of pathogenicity
Select item 891701	NM_000088.4(COL1A1):c.*120T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
Select item 891578	NM_000088.4(COL1A1):c.3815-10C>T	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GConflicting classifications of pathogenicity
Select item 891522	NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)	COL1A1 (V1426M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GConflicting classifications of pathogenicity
Select item 891442	NM_000088.4(COL1A1):c.*285C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GUncertain significance
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 891320	NM_000088.4(COL1A1):c.*1151C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 891017	NM_000088.4(COL1A1):c.-98G>A	COL1A1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 890844	NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 890714	NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GConflicting classifications of pathogenicity
Select item 890451	NM_000088.4(COL1A1):c.-57G>A	COL1A1	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 890331	NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 890183	NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)	COL1A1 (P774A)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 890021	NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GConflicting classifications of pathogenicity
Select item 889897	NM_000088.4(COL1A1):c.*342C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 889896	NM_000088.4(COL1A1):c.*356T>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 889832	NM_000088.4(COL1A1):c.*836C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GConflicting classifications of pathogenicity
Select item 889519	NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +6 more	GConflicting classifications of pathogenicity
Select item 889393	NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)	COL1A1 (E1207K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +4 more	GConflicting classifications of pathogenicity
Select item 889274	NM_000088.4(COL1A1):c.*73C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 889273	NM_000088.4(COL1A1):c.*88T>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GBenign/Likely benign
Select item 889272	NM_000088.4(COL1A1):c.*93A>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GConflicting classifications of pathogenicity
Select item 889215	NM_000088.4(COL1A1):c.*502C>T	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 889214	NM_000088.4(COL1A1):c.*548C>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GConflicting classifications of pathogenicity
Select item 889153	NM_000088.4(COL1A1):c.*837G>A	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 889152	NM_000088.4(COL1A1):c.*1011T>C	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +3 more	GConflicting classifications of pathogenicity
Select item 889080	NM_000088.4(COL1A1):c.*1316C>G	COL1A1	Single nucleotide variant (3 prime UTR variant)	Infantile cortical hyperostosis +2 more	GUncertain significance
Select item 888627	NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)	COL1A1 (V349F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 888626	NM_000088.4(COL1A1):c.1155+12C>T	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GConflicting classifications of pathogenicity
Select item 888580	NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 888579	NM_000088.4(COL1A1):c.1615-14C>T	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GConflicting classifications of pathogenicity
Select item 870103	NM_000088.4(COL1A1):c.1646del (p.Pro549fs)	COL1A1 (P549fs)	Deletion (frameshift variant)	Osteoporosis +8 more	GPathogenic
Select item 853945	NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)	COL1A1 (A498T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 811535	NM_000088.4(COL1A1):c.104-441G>T	COL1A1	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 808289	NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)	COL1A1 (P1186A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +3 more	GConflicting classifications of pathogenicity
Select item 798230	NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu)	COL1A1 (P690L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GConflicting classifications of pathogenicity
Select item 779770	NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +4 more	GConflicting classifications of pathogenicity
Select item 772515	NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +4 more	GConflicting classifications of pathogenicity
Select item 772260	NM_000088.4(COL1A1):c.462C>T (p.Gly154=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +5 more	GConflicting classifications of pathogenicity
Select item 707289	NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)	COL1A1 (A723V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GConflicting classifications of pathogenicity
Select item 703557	NM_000088.4(COL1A1):c.957+10C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +4 more	GBenign/Likely benign
Select item 702403	NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)	COL1A1 (R1093H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GConflicting classifications of pathogenicity
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +9 more	GLikely benign
Select item 675050	NM_000088.4(COL1A1):c.588+33T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GBenign
Select item 674809	NM_000088.4(COL1A1):c.3815-35T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GBenign
Select item 674808	NM_000088.4(COL1A1):c.3261+31T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674807	NM_000088.4(COL1A1):c.2830-33C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674805	NM_000088.4(COL1A1):c.2028+39C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674804	NM_000088.4(COL1A1):c.1984-41G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 658410	NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg)	COL1A1 (Q42R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +10 more	GConflicting classifications of pathogenicity
Select item 647159	NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)	COL1A1 (G425S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 645708	NM_000088.4(COL1A1):c.3002del (p.Gly1001fs)	COL1A1 (G1001fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, arthrochalasia type +1 more	GPathogenic/Likely pathogenic
Select item 635464	NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)	COL1A1 (G26D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +6 more	GConflicting classifications of pathogenicity
Select item 578894	NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	COL1A1 (D1332N)	Single nucleotide variant (missense variant)	Osteoporosis +9 more	GConflicting classifications of pathogenicity
Select item 567054	NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)	COL1A1 (P949S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 566740	NM_000088.4(COL1A1):c.1200+5G>A	COL1A1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 547238	NM_000089.4(COL1A2):c.1036-3T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 547231	NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)	COL1A1 (A1194T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GConflicting classifications of pathogenicity
Select item 546096	NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser)	COL1A1 (G767S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GPathogenic
Select item 526854	NM_000088.4(COL1A1):c.599G>T (p.Gly200Val)	COL1A1 (G200V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +2 more	GPathogenic/Likely pathogenic
Select item 526852	NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)	COL1A1 (A84G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 517702	NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +10 more	GConflicting classifications of pathogenicity
Select item 512651	NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr)	COL1A1 (A723T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GConflicting classifications of pathogenicity
Select item 512519	NM_000088.4(COL1A1):c.589-20T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +9 more	GBenign/Likely benign
Select item 509588	NM_000088.4(COL1A1):c.1461+13G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +5 more	GConflicting classifications of pathogenicity
Select item 509229	NM_000088.4(COL1A1):c.2613+13C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +5 more	GBenign/Likely benign
Select item 506737	NM_000088.4(COL1A1):c.750+12G>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +5 more	GBenign/Likely benign
Select item 499457	NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)	COL1A1 (G1022A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GPathogenic
Select item 489067	NM_000088.4(COL1A1):c.472-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, arthrochalasia type +1 more	GPathogenic

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