C0023931[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425643	NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	COL1A2 (G337S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +9 more	GConflicting classifications of pathogenicity
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +11 more	GBenign
Select item 839050	NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)	COL1A2 (G769C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +2 more	GPathogenic
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 803432	NM_000088.4(COL1A1):c.2990del (p.Pro997fs)	COL1A1 (P997fs)	Deletion (frameshift variant)	COL1A1-related condition +1 more	GPathogenic
Select item 803433	NM_000088.4(COL1A1):c.2915del (p.Phe972fs)	COL1A1 (F972fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 658750	NM_000088.4(COL1A1):c.2452-1G>C	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 196607	NM_000088.4(COL1A1):c.1984-5C>A	COL1A1	Single nucleotide variant (intron variant)	Connective tissue disorder +10 more	GConflicting classifications of pathogenicity
Select item 803434	NM_000088.4(COL1A1):c.1875+3G>T	COL1A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 425580	NM_000088.4(COL1A1):c.1821+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided +9 more	GPathogenic
Select item 35902	NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)	COL1A1 (R528H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 803435	NM_000088.4(COL1A1):c.958-1G>C	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 803436	NM_000088.4(COL1A1):c.938del (p.Pro313fs)	COL1A1 (P313fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 17285	NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)	COL1A1, LOC126862586 (G272C)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +1 more	GPathogenic
Select item 803437	NM_000088.4(COL1A1):c.725G>T (p.Gly242Val)	LOC126862586, COL1A1 (G242V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1685271	NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp)	COL1A1 (G203D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 456792	NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)	COL1A1 (G203V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425630	NM_000088.4(COL1A1):c.432dup (p.Gly145fs)	COL1A1 (G145fs)	Duplication (frameshift variant)	COL1A1-related condition +1 more	GPathogenic
Select item 803438	NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)	COL1A1 (R120*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic