"Baylor Genetics"[submitter] AND "COL1A1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590990	NM_000088.4(COL1A1):c.4339del (p.Val1447fs)	COL1A1 (V1447fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GLikely pathogenic
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 937217	NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)	COL1A1 (E1273*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic
Select item 1074867	NM_000088.4(COL1A1):c.3649del (p.Arg1217fs)	COL1A1 (R1217fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 17313	NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser)	COL1A1 (G1181S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 590989	NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val)	COL1A1 (G1142V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1029481	NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu)	COL1A1 (G1133E)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis	GLikely pathogenic
Select item 425618	NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	COL1A1 (G1076S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic/Likely pathogenic
Select item 1029480	NM_000088.4(COL1A1):c.3207+3A>G	COL1A1	Single nucleotide variant (intron variant)	Infantile cortical hyperostosis	GUncertain significance
Select item 1029479	NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu)	COL1A1 (P1041L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2582441	NM_000088.4(COL1A1):c.3100-6C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 35920	NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	COL1A1 (R1026*)	Single nucleotide variant (nonsense)	Abnormality of the skeletal system +10 more	GPathogenic
Select item 209140	NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg)	COL1A1 (G956R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1001743	NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala)	COL1A1 (P925A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 590988	NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser)	COL1A1 (G722S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GPathogenic
Select item 35906	NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)	COL1A1 (A628T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 456740	NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs)	COL1A1 (P621fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 265433	NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	COL1A1 (G560S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 35902	NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	COL1A1 (R528H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 456724	NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser)	COL1A1 (G338S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 590992	NM_000088.4(COL1A1):c.887G>C (p.Gly296Ala)	COL1A1, LOC126862586 (G296A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 590991	NM_000088.4(COL1A1):c.801_802del (p.His267fs)	COL1A1, LOC126862586 (H267fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 1029482	NM_000088.4(COL1A1):c.644G>T (p.Gly215Val)	COL1A1 (G215V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 17311	NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	COL1A1 (M181I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 3238781	NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs)	COL1A1 (P141fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2582648	NM_000088.4(COL1A1):c.370-2A>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic

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Items: 26