"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35957	NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2 (G280S)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +7 more	GPathogenic
Select item 254957	NM_000089.4(COL1A2):c.936+14C>T	COL1A2	Single nucleotide variant (intron variant)	not specified +8 more	GBenign
Select item 254958	NM_000089.4(COL1A2):c.937-3C>T	COL1A2	Single nucleotide variant (intron variant)	not provided +10 more	GBenign
Select item 254952	NM_000089.4(COL1A2):c.1446A>C (p.Pro482=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +8 more	GBenign
Select item 254953	NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)	COL1A2 (P549A)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +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 254956	NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign

ClinVar