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

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Items: 22

	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 235708	NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)	COL1A1 (G1340S)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 35922	NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)	COL1A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1209977	NM_000088.4(COL1A1):c.3815-9C>T	COL1A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 197557	NM_000088.4(COL1A1):c.3531+10C>A	COL1A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 509902	NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +4 more	GLikely benign
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 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 456763	NM_000088.4(COL1A1):c.3046-20CT[10]	COL1A1	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 701827	NM_000088.4(COL1A1):c.3046-20CT[7]	COL1A1	Microsatellite (intron variant)	Osteogenesis imperfecta type I +1 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 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 283606	NM_000088.4(COL1A1):c.1615-4C>A	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GBenign/Likely benign
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 235542	NM_000088.4(COL1A1):c.1300-8C>G	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +11 more	GBenign
Select item 195451	NM_000088.4(COL1A1):c.1300-8C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +6 more	GBenign
Select item 456732	NM_000088.4(COL1A1):c.1269C>T (p.Pro423=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +6 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 456792	NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)	COL1A1 (G203V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 526867	NM_000088.4(COL1A1):c.1A>G (p.Met1Val)	COL1A1 (M1V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type I	GPathogenic

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Items: 22