"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299778	NM_000089.4(COL1A2):c.81+15T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 379658	NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)	COL1A2 (P102S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GConflicting classifications of pathogenicity
Select item 281902	NM_000089.4(COL1A2):c.594+5A>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 284986	NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)	COL1A2 (V270I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GBenign/Likely benign
Select item 35957	NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2 (G280S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +7 more	GPathogenic
Select item 254957	NM_000089.4(COL1A2):c.936+14C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +8 more	GBenign
Select item 254958	NM_000089.4(COL1A2):c.937-3C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +10 more	GBenign
Select item 963542	NM_000089.4(COL1A2):c.1089C>G (p.Pro363=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1210061	NM_000089.4(COL1A2):c.1252-7del	COL1A2	Deletion (intron variant)	Osteogenesis imperfecta +2 more	GBenign
Select item 254952	NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GBenign
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +11 more	GBenign
Select item 254954	NM_000089.4(COL1A2):c.1665+15A>G	COL1A2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 386235	NM_000089.4(COL1A2):c.1773C>T (p.Arg591=)	COL1A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 392356	NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)	COL1A2 (R693Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +13 more	GBenign/Likely benign
Select item 456823	NM_000089.4(COL1A2):c.2754C>T (p.Asn918=)	COL1A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 254956	NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +6 more	GBenign
Select item 283153	NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)	COL1A2 (V1047M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign/Likely benign
Select item 1134687	NM_000089.4(COL1A2):c.3268-9C>T	COL1A2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign