"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456789	NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 281778	NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GBenign/Likely benign
Select item 383766	NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GBenign/Likely benign
Select item 324105	NM_000088.4(COL1A1):c.3099+7T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +7 more	GConflicting classifications of pathogenicity
Select item 196607	NM_000088.4(COL1A1):c.1984-5C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +9 more	GConflicting classifications of pathogenicity
Select item 509588	NM_000088.4(COL1A1):c.1461+13G>T	COL1A1	Single nucleotide variant (intron variant)	Infantile cortical hyperostosis +5 more	GConflicting classifications of pathogenicity
Select item 218424	NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)	COL1A1 (P205A)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 35926	NM_000088.4(COL1A1):c.612C>T (p.Pro204=)	COL1A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign