"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061969	NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)	COL1A1 (G1448R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1332872	NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro)	COL1A1 (L1389P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1332735	NM_000088.4(COL1A1):c.3711_3712delinsG (p.Ser1237fs)	COL1A1 (S1237fs)	Indel (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 372753	NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])	COL1A1	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic
Select item 1332753	NM_000088.4(COL1A1):c.2029-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic
Select item 1332752	NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp)	COL1A1 (G626D)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 1322111	NM_000088.4(COL1A1):c.1155+1G>C	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +2 more	GPathogenic/Likely pathogenic
Select item 691321	NM_000088.4(COL1A1):c.1001del (p.Pro334fs)	COL1A1 (P334fs)	Deletion (frameshift variant)	Osteogenesis imperfecta +1 more	GPathogenic

ClinVar