C4693870[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030177	NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)	AEBP1 (W356*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 1030176	NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)	AEBP1 (Y951*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 1033308	NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp)	AEBP1 (E1128D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2	GUncertain significance

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