C0268363[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 1687533	NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg)	COL1A2 (G391R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2136566	NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)	COL1A2 (G550S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GConflicting classifications of pathogenicity
Select item 425649	NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2 (G601S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic
Select item 663292	NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)	COL1A2 (G631V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +3 more	GPathogenic
Select item 420022	NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	COL1A2 (G772S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GPathogenic/Likely pathogenic
Select item 17295	NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)	COL1A1 (G1010S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1333364	NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala)	COL1A1 (G956A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 236248	NM_000088.4(COL1A1):c.2775del (p.Gly926fs)	COL1A1 (G926fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2572380	NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)	COL1A1 (G890A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 447141	NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	COL1A1 (G788S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 1687556	NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer)	COL1A1	Deletion (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1074344	NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter)	COL1A1 (G602*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GPathogenic
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 2572450	NM_000088.4(COL1A1):c.1631del (p.Pro544fs)	COL1A1 (P544fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
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 17312	NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	COL1A1 (G332R)	Single nucleotide variant (missense variant)	COL1A1-related disorder +9 more	GPathogenic
Select item 1382447	NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp)	COL1A1, LOC126862586 (G260D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic/Likely pathogenic
Select item 2444032	NM_000088.4(COL1A1):c.423del (p.Gly142fs)	COL1A1 (G142fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic