C0268335[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35957	NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	COL1A2 (G280S)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 425643	NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	COL1A2 (G337S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +9 more	GConflicting classifications of pathogenicity
Select item 2022871	NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)	COL1A2 (G367R)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +2 more	GPathogenic
Select item 420022	NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	COL1A2 (G772S)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +5 more	GPathogenic/Likely pathogenic
Select item 3068722	NM_000093.5(COL5A1):c.74T>C (p.Leu25Pro)	COL5A1 (L25P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GPathogenic
Select item 212953	NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser)	COL5A1 (G997S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3068024	NM_000093.5(COL5A1):c.3883C>T (p.Leu1295Phe)	COL5A1 (L1295F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance

ClinVar