ClinVar for MedGen (Select 257035) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 863192	NM_000127.3(EXT1):c.1722+1G>T	EXT1	Single nucleotide variant (splice donor variant)	Multiple congenital exostosis +1 more	GPathogenic
Select item 523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2 (T882S +2 more)	Single nucleotide variant (missense variant)	Arteriovenous malformation +10 more	GUncertain significance