"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701985	NM_000088.4(COL1A1):c.916_917del (p.Leu306fs)	LOC126862586, COL1A1 (L306fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1701984	NM_000088.4(COL1A1):c.904-1G>T	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 35930	NM_000088.4(COL1A1):c.904-9G>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1702181	NM_000088.4(COL1A1):c.864G>T (p.Glu288Asp)	COL1A1, LOC126862586 (E288D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702180	NM_000088.4(COL1A1):c.858+7G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702179	NM_000088.4(COL1A1):c.839C>A (p.Ala280Asp)	COL1A1, LOC126862586 (A280D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 425639	NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	COL1A1, LOC126862586 (G257R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +10 more	GPathogenic
Select item 425141	NM_000088.4(COL1A1):c.768C>T (p.Pro256=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 265435	NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter)	COL1A1, LOC126862586 (R253*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta +2 more	GPathogenic
Select item 287981	NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)	COL1A1, LOC126862586 (P247L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1701983	NM_000088.3(COL1A1):c.700delG	COL1A1, LOC126862586	Deletion	Osteogenesis imperfecta	GPathogenic