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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931500	NM_000090.4(COL3A1):c.509C>T (p.Ala170Val)	COL3A1 (A170V)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	GUncertain significance
Select item 924824	NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)	COL3A1 (A295V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, dominant type 4 +3 more	GUncertain significance
Select item 101195	NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val)	COL3A1	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 930386	NM_000090.4(COL3A1):c.1465G>T (p.Gly489Trp)	COL3A1 (G489W)	Single nucleotide variant (missense variant)	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	GLikely pathogenic
Select item 930266	NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)	COL3A1, LOC126806446 (A784V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 101309	NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)	COL3A1	Single nucleotide variant (missense variant)	Seizure +1 more	GPathogenic

ClinVar