C0268336[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213130	NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)	COL5A2 (R1453Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 213125	NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)	COL5A2 (D1356G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +6 more	GConflicting classifications of pathogenicity
Select item 213109	NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr)	COL5A2 (S883Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GConflicting classifications of pathogenicity
Select item 519643	NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)	COL5A1 (P435L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 409120	NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)	COL5A1 (G1198S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1051709	NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)	COL5A1 (P1355L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance

ClinVar