"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931920	NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)	COL5A2 (K1353E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 932005	NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)	COL5A2 (M1244T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931040	NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)	COL5A2 (P1219L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 213114	NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)	COL5A2 (R1060W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 931340	NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 930777	NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)	COL5A2 (E865D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GUncertain significance
Select item 523366	NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)	COL5A2 (G252C)	Single nucleotide variant (missense variant)	Hyperextensible skin +5 more	GLikely pathogenic

ClinVar