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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136900	NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	COL5A1, LOC101448202	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GBenign
Select item 136899	NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	LOC101448202, COL5A1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 136901	NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome type 7A +6 more	GBenign/Likely benign
Select item 264439	NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)	COL5A1, LOC101448202	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 136914	NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	LOC101448202, COL5A1 (T1757M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GBenign/Likely benign
Select item 180300	NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	COL5A1, LOC101448202 (A1784T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity

ClinVar