"Genome-Nilou Lab"[submitter] AND "COL3A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136847	NM_000090.4(COL3A1):c.1816-14G>C	COL3A1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign
Select item 136848	NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)	COL3A1	Single nucleotide variant (synonymous variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +4 more	GBenign
Select item 136851	NM_000090.4(COL3A1):c.1978-11C>T	COL3A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 17205	NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)	COL3A1 (A698T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 136853	NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)	COL3A1	Single nucleotide variant (synonymous variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +4 more	GBenign
Select item 254962	NM_000090.4(COL3A1):c.2337+23T>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4 +3 more	GBenign
Select item 254970	NM_000090.4(COL3A1):c.3824-31C>A	COL3A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 226540	NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)	COL3A1 (H1353Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +4 more	GBenign

ClinVar