"Pars Genome Lab"[submitter] AND "EVC"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262770	NM_153717.3(EVC):c.221A>C (p.Gln74Pro)	EVC (Q74P)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262776	NM_153717.3(EVC):c.249A>G (p.Ser83=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 675084	NM_153717.3(EVC):c.301-80G>A	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262779	NM_153717.3(EVC):c.341C>T (p.Ala114Val)	EVC (A114V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 262780	NM_153717.3(EVC):c.384+41C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262781	NM_153717.3(EVC):c.385-16C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 1174044	NM_153717.3(EVC):c.618-121G>A	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GBenign
Select item 198281	NM_153717.3(EVC):c.769C>T (p.Leu257=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 198282	NM_153717.3(EVC):c.772T>C (p.Tyr258His)	EVC (Y258H)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 1174045	NM_153717.3(EVC):c.801+240C>T	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262782	NM_153717.3(EVC):c.802-15C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262785	NM_153717.3(EVC):c.939+4C>T	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +2 more	GBenign
Select item 262784	NM_153717.3(EVC):c.939+10A>G	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 1174046	NM_153717.3(EVC):c.939+63C>A	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174047	NM_153717.3(EVC):c.939+114G>A	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262786	NM_153717.3(EVC):c.969T>C (p.Asn323=)	EVC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 262761	NM_153717.3(EVC):c.1026G>C (p.Leu342=)	EVC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 262762	NM_153717.3(EVC):c.1068A>G (p.Leu356=)	EVC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1174048	NM_153717.3(EVC):c.1098+51A>T	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 669948	NM_153717.3(EVC):c.1099-208C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GBenign
Select item 667837	NM_153717.3(EVC):c.1099-167G>C	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262764	NM_153717.3(EVC):c.1099-19T>C	EVC	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 262765	NM_153717.3(EVC):c.1115C>T (p.Thr372Met)	EVC (T372M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 167044	NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)	EVC (T449K)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262767	NM_153717.3(EVC):c.1465-47A>C	EVC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 667840	NM_153717.3(EVC):c.1563+185A>G	EVC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174064	NM_153717.3(EVC):c.1563+216C>A	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome	GLikely benign
Select item 1174065	NM_153717.3(EVC):c.1563+1771A>G	EVC	Single nucleotide variant (3 prime UTR variant +1 more)	Ellis-van Creveld syndrome	GBenign
Select item 1174066	NM_153717.3(EVC):c.1563+1897C>T	EVC	Single nucleotide variant (3 prime UTR variant +1 more)	Ellis-van Creveld syndrome	GBenign

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Items: 29