"Baylor Genetics"[submitter] AND "EVC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033172	NM_153717.3(EVC):c.493A>G (p.Ser165Gly)	EVC (S165G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 1031238	NM_153717.3(EVC):c.1078T>C (p.Ser360Pro)	EVC (S360P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553266	NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)	EVC (E560*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553254	NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	EVC (L623P)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1032511	NM_153717.3(EVC):c.1957G>A (p.Gly653Ser)	EVC (G653S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic

ClinVar