"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EVC"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550534	NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])	EVC	Microsatellite (inframe_insertion)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 197384	NM_153717.3(EVC):c.469C>G (p.Pro157Ala)	EVC (P157A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 990322	NM_153717.3(EVC):c.580C>T (p.Arg194Trp)	EVC (R194W)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 516299	NM_153717.3(EVC):c.802-15del	EVC	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1249775	NM_153717.3(EVC):c.802-12_802-11del	EVC	Deletion (intron variant)	not provided +2 more	GBenign
Select item 551674	NM_153717.3(EVC):c.873dup (p.Glu292Ter)	EVC (E292*)	Duplication (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 557239	NM_153717.3(EVC):c.884C>G (p.Thr295Ser)	EVC (T295S)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 446661	NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)	EVC (K302del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome +2 more	GLikely pathogenic
Select item 372594	NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)	EVC (L346fs)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 552459	NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)	EVC (E354*)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 349179	NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)	EVC (E488G)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +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 1470470	NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)	EVC (E711G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 349200	NM_153717.3(EVC):c.2363G>A (p.Arg788His)	EVC (R788H)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 551324	NM_153717.3(EVC):c.2449+1G>A	EVC	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GConflicting classifications of pathogenicity
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