"Dan Cohn Lab, University Of California Los Angeles"[submitter] AND "E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446662	NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	EVC (Y121*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446661	NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	EVC (K302del)	Microsatellite (inframe_deletion)	not provided +2 more	GLikely pathogenic
Select item 5340	NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	EVC (R340*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +2 more	GPathogenic
Select item 446659	NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	EVC (M500I)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 446660	NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)	EVC (Y556*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 5338	NM_153717.3(EVC):c.1886+5G>T	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +2 more	GPathogenic/Likely pathogenic

ClinVar