"Revvity Omics, Revvity"[submitter] AND "EVC"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557822	NM_153717.3(EVC):c.134G>A (p.Trp45Ter)	EVC (W45*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 1322837	NM_153717.3(EVC):c.414dup (p.Leu139fs)	EVC (L139fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2152195	NM_153717.3(EVC):c.499G>A (p.Gly167Ser)	EVC (G167S)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 2690598	NM_153717.3(EVC):c.645_647delinsG (p.Ser215fs)	EVC (S215fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 5340	NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	EVC (R340*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 287369	NM_153717.3(EVC):c.1349C>T (p.Ala450Val)	EVC (A450V)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 551227	NM_153717.3(EVC):c.1694del (p.Ala565fs)	EVC (A565fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1324351	NM_153717.3(EVC):c.1771C>T (p.Gln591Ter)	EVC (Q591*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1322838	NM_153717.3(EVC):c.1783_1886+40del	EVC	Deletion (splice donor variant)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 1324350	NM_153717.3(EVC):c.2416del (p.Glu806fs)	EVC (E806fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 850722	NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)	EVC (R911*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic