C0457013[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195539	NM_147127.5(EVC2):c.3507C>T (p.His1169=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262620	NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)	EVC2 (S230G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 195425	NM_153717.3(EVC):c.284A>G (p.Asp95Gly)	EVC (D95G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 283079	NM_153717.3(EVC):c.550G>A (p.Asp184Asn)	EVC (D184N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197383	NM_153717.3(EVC):c.569G>T (p.Arg190Leu)	EVC (R190L)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +4 more	GConflicting classifications of pathogenicity
Select item 198281	NM_153717.3(EVC):c.769C>T (p.Leu257=)	EVC	Single nucleotide variant (synonymous variant)	not provided +3 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 +3 more	GBenign
Select item 262782	NM_153717.3(EVC):c.802-15C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262785	NM_153717.3(EVC):c.939+4C>T	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262784	NM_153717.3(EVC):c.939+10A>G	EVC	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 262786	NM_153717.3(EVC):c.969T>C (p.Asn323=)	EVC	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 262761	NM_153717.3(EVC):c.1026G>C (p.Leu342=)	EVC	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 786833	NM_153717.3(EVC):c.1059C>T (p.Ala353=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 262762	NM_153717.3(EVC):c.1068A>G (p.Leu356=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262764	NM_153717.3(EVC):c.1099-19T>C	EVC	Single nucleotide variant (intron variant)	Curry-Hall syndrome +3 more	GBenign
Select item 5342	NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	EVC (R443Q)	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 +3 more	GBenign
Select item 1199363	NM_153717.3(EVC):c.1683C>T (p.Val561=)	EVC	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 349184	NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)	EVC (A566T)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 262768	NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)	EVC (R576Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1210401	NM_153717.3(EVC):c.1750del (p.Gln584fs)	EVC (Q584fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 262769	NM_153717.3(EVC):c.1854C>T (p.Gly618=)	EVC	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +3 more	GBenign
Select item 1199365	NM_153717.3(EVC):c.1988G>C (p.Arg663Pro)	EVC (R663P)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 262774	NM_153717.3(EVC):c.2305-8T>C	EVC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 194682	NM_153717.3(EVC):c.2322G>C (p.Ala774=)	EVC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262775	NM_153717.3(EVC):c.2449+15del	EVC	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1199364	NM_153717.3(EVC):c.2554C>G (p.His852Asp)	EVC (H852D)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 262778	NM_153717.3(EVC):c.2894+18A>G	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262759	NM_153717.3(EVC):c.*14G>A	EVC	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign

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Items: 29