C0268363[trait identifier] AND "Laboratorio de Genetica e Diagnostico - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456844	NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)	COL1A2 (G262R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GLikely pathogenic
Select item 1683639	NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)	COL1A2 (G292C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic/Likely pathogenic
Select item 618023	NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	COL1A2 (G322S)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic/Likely pathogenic
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic
Select item 425649	NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2 (G601S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GPathogenic
Select item 1454487	NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)	COL1A2 (G763D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic/Likely pathogenic
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 1224380	NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)	COL1A2 (G901C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GLikely pathogenic
Select item 1683584	NM_000088.4(COL1A1):c.2990dup (p.Gly998fs)	COL1A1 (G998fs)	Duplication (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 425639	NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	COL1A1, LOC126862586 (G257R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type +10 more	GPathogenic