"Revvity Omics, Revvity"[submitter] AND "COL1A1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444409	NM_000088.4(COL1A1):c.4005+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +11 more	GUncertain significance
Select item 2688773	NM_000088.4(COL1A1):c.4005+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2688821	NM_000088.4(COL1A1):c.3827T>G (p.Ile1276Ser)	COL1A1 (I1276S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440271	NM_000088.4(COL1A1):c.3815-3C>T	COL1A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1322115	NM_000088.4(COL1A1):c.3671_3683del (p.Val1224fs)	COL1A1 (V1224fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 17337	NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)	COL1A1 (R1141*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1324104	NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala)	COL1A1 (G1094A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GLikely pathogenic
Select item 17330	NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)	COL1A1 (G1040S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +2 more	GPathogenic
Select item 2435767	NM_000088.4(COL1A1):c.3100-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2440272	NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly)	COL1A1 (E969G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 618019	NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)	COL1A1 (G884S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 456753	NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter)	COL1A1 (R882*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 425612	NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)	COL1A1 (G866S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 17291	NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg)	COL1A1 (G845R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1254053	NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu)	COL1A1 (P840L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 425610	NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)	COL1A1 (G821S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic
Select item 2440275	NM_000088.4(COL1A1):c.2393C>T (p.Ala798Val)	COL1A1 (A798V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284528	NM_000088.4(COL1A1):c.2288G>A (p.Arg763His)	COL1A1 (R763H)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 285239	NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)	COL1A1 (D706N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GUncertain significance
Select item 1022065	NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)	COL1A1 (A669T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2079617	NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)	COL1A1 (D613G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324106	NM_000088.4(COL1A1):c.1813G>A (p.Gly605Ser)	COL1A1 (G605S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 425603	NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)	COL1A1 (R598*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta +3 more	GPathogenic
Select item 526860	NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys)	COL1A1 (G560C)	Single nucleotide variant (missense variant)	COL1A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1454642	NM_000088.4(COL1A1):c.1667dup (p.Gly557fs)	COL1A1 (G557fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1322116	NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter)	COL1A1 (G521*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type III +1 more	GPathogenic/Likely pathogenic
Select item 425597	NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	COL1A1 (R415*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +8 more	GConflicting classifications of pathogenicity
Select item 800565	NM_000088.4(COL1A1):c.1201-1G>A	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 1322111	NM_000088.4(COL1A1):c.1155+1G>C	COL1A1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1703953	NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys)	COL1A1 (R370C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1322117	NM_000088.4(COL1A1):c.1103G>T (p.Gly368Val)	COL1A1 (G368V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1009188	NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro)	COL1A1 (S363P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 2688778	NM_000088.4(COL1A1):c.1072del (p.Gln358fs)	COL1A1 (Q358fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2435753	NM_000088.4(COL1A1):c.983_984dup (p.Gly329fs)	COL1A1 (G329fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2440273	NM_000088.4(COL1A1):c.804+3G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 1322113	NM_000088.3(COL1A1):c.700dup	COL1A1, LOC126862586	Duplication	not provided +2 more	GPathogenic
Select item 2435758	NM_000088.4(COL1A1):c.670G>A (p.Gly224Ser)	COL1A1 (G224S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2439282	NM_000088.4(COL1A1):c.662G>A (p.Gly221Asp)	COL1A1 (G221D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1355589	NM_000088.4(COL1A1):c.607G>C (p.Gly203Arg)	COL1A1 (G203R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1324105	NM_000088.4(COL1A1):c.543+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2440274	NM_000088.4(COL1A1):c.346G>C (p.Asp116His)	COL1A1 (D116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130658	NM_000088.4(COL1A1):c.313C>T (p.Gln105Ter)	COL1A1 (Q105*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1322110	NM_000088.4(COL1A1):c.210C>A (p.Cys70Ter)	COL1A1 (C70*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1322112	NM_000088.4(COL1A1):c.55dup (p.Leu19fs)	COL1A1 (L19fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 891017	NM_000088.4(COL1A1):c.-98G>A	COL1A1	Single nucleotide variant (5 prime UTR variant)	Infantile cortical hyperostosis +3 more	GConflicting classifications of pathogenicity

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Items: 45