C0268363[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254957	NM_000089.4(COL1A2):c.936+14C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign
Select item 254958	NM_000089.4(COL1A2):c.937-3C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +10 more	GBenign
Select item 254952	NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GBenign
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +11 more	GBenign
Select item 674809	NM_000088.4(COL1A1):c.3815-35T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674808	NM_000088.4(COL1A1):c.3261+31T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 285362	NM_000088.4(COL1A1):c.3223= (p.Ala1075=)	COL1A1	Single nucleotide variant (no sequence alteration)	not provided +6 more	GBenign
Select item 674807	NM_000088.4(COL1A1):c.2830-33C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 254947	NM_000088.4(COL1A1):c.2298T>C (p.Thr766=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +11 more	GBenign
Select item 674805	NM_000088.4(COL1A1):c.2028+39C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674804	NM_000088.4(COL1A1):c.1984-41G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GBenign
Select item 675050	NM_000088.4(COL1A1):c.588+33T>C	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 254949	NM_000088.4(COL1A1):c.299-20C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +6 more	GBenign