C0013903[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 348975	NM_147127.5(EVC2):c.*394A>G	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GBenign
Select item 348976	NM_147127.5(EVC2):c.*384T>A	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GBenign
Select item 899532	NM_147127.5(EVC2):c.*207A>G	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GLikely benign
Select item 348977	NM_147127.5(EVC2):c.*141A>G	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 899533	NM_147127.5(EVC2):c.*105C>T	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 348978	NM_147127.5(EVC2):c.*90C>T	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 348979	NM_147127.5(EVC2):c.*68T>C	EVC2	Single nucleotide variant (3 prime UTR variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 899534	NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val)	EVC2 (A1224V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 262616	NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 899535	NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr)	EVC2 (A1253T +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 435102	NM_147127.5(EVC2):c.3659+8T>C	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +3 more	GBenign/Likely benign
Select item 348980	NM_147127.5(EVC2):c.3659+2T>C	EVC2	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +3 more	GPathogenic/Likely pathogenic
Select item 348981	NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)	EVC2 (R1215C +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 506668	NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 195540	NM_147127.5(EVC2):c.3557+10G>A	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 733595	NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 195539	NM_147127.5(EVC2):c.3507C>T (p.His1169=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GBenign
Select item 348982	NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr)	EVC2 (H1169Y +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 618095	NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 771792	NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)	EVC2 (S1144N +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 348983	NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)	EVC2 (T1138M +1 more)	Single nucleotide variant (missense variant)	EVC2-related condition +2 more	GBenign/Likely benign
Select item 772299	NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 711625	NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)	EVC2 (L1048M +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GLikely benign
Select item 380463	NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 796657	NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 902354	NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro)	EVC2 (L1022P +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 902355	NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)	EVC2 (Q1017E +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 348984	NM_147127.5(EVC2):c.3272+8G>A	EVC2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 348985	NM_147127.5(EVC2):c.3272+7C>T	EVC2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 348986	NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)	EVC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 903216	NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)	EVC2 (A997T +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 903217	NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)	EVC2 (E1060K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 348987	NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 348988	NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)	EVC2 (D1053N +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 348989	NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)	EVC2 (S1046R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 903218	NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro)	EVC2 (Q1040P +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 348990	NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu)	EVC2 (Q1031E +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 899612	NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)	EVC2 (R939Q +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 348991	NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp)	EVC2 (R1019W +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 348992	NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)	EVC2 (L1014V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 262615	NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)	EVC2 (S1008L +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 772044	NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)	EVC2 (E923K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GLikely benign
Select item 348993	NM_147127.5(EVC2):c.2983C>G (p.Leu995Val)	EVC2 (L995V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 348994	NM_147127.5(EVC2):c.2883A>C (p.Gly961=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 348995	NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)	EVC2 (R955Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 707500	NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)	EVC2 (R875W +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 348996	NM_147127.5(EVC2):c.2829+9A>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 348997	NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln)	EVC2 (R911Q +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 348998	NM_147127.5(EVC2):c.2707-5T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 900741	NM_147127.5(EVC2):c.2707-9C>G	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +1 more	GConflicting classifications of pathogenicity
Select item 348999	NM_147127.5(EVC2):c.2706+13T>C	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 900742	NM_147127.5(EVC2):c.2668G>A (p.Val890Met)	EVC2 (V810M +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 349000	NM_147127.5(EVC2):c.2667C>T (p.Phe889=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 772198	NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)	EVC2 (A803V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 349001	NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)	EVC2 (T882A +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 286560	NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)	EVC2 (R874Q +1 more)	Single nucleotide variant (missense variant)	EVC2-related condition +3 more	GBenign/Likely benign
Select item 281702	NM_147127.5(EVC2):c.2601C>T (p.Ala867=)	EVC2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 262612	NM_147127.5(EVC2):c.2487G>A (p.Glu829=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 349056	NM_147127.5(EVC2):c.2416G>A (p.Val806Met)	EVC2 (V806M +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 349057	NM_147127.5(EVC2):c.2395G>C (p.Asp799His)	EVC2 (D799H +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 349058	NM_147127.5(EVC2):c.2394G>A (p.Arg798=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 905778	NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)	EVC2 (A788V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 349059	NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)	EVC2 (R787W +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 290666	NM_147127.5(EVC2):c.2340C>T (p.His780=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 349060	NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)	EVC2 (R753C +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 349061	NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys)	EVC2 (E750K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 262611	NM_147127.5(EVC2):c.2235A>G (p.Glu745=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 194441	NM_147127.5(EVC2):c.2151C>T (p.His717=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 906288	NM_147127.5(EVC2):c.2137C>G (p.Leu713Val)	EVC2 (L633V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 262610	NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)	EVC2 (T699A +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262609	NM_147127.5(EVC2):c.2061T>C (p.Arg687=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 429228	NM_147127.5(EVC2):c.2060G>A (p.Arg687His)	EVC2 (R687H +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 281703	NM_147127.5(EVC2):c.2047-9A>T	EVC2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 262608	NM_147127.5(EVC2):c.2046+5A>G	EVC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 349064	NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)	EVC2 (L680P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 235459	NM_147127.5(EVC2):c.2029C>A (p.Arg677=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 749714	NM_147127.5(EVC2):c.1998G>A (p.Lys666=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GConflicting classifications of pathogenicity
Select item 905837	NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)	EVC2 (R564Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 905838	NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)	EVC2 (R564W +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 349076	NM_147127.5(EVC2):c.1886+11A>G	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 349077	NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)	EVC2 (E628K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 349078	NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)	EVC2 (A616T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 349079	NM_147127.5(EVC2):c.1845C>T (p.Thr615=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 281122	NM_147127.5(EVC2):c.1823G>A (p.Arg608His)	EVC2 (R608H +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 904802	NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)	EVC2 (R608C +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 349080	NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)	EVC2 (M577T +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign/Likely benign
Select item 349081	NM_147127.5(EVC2):c.1711-11_1711-10dup	EVC2	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904803	NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu)	EVC2 (K488E +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 349082	NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser)	EVC2 (P556S +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 349083	NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg)	EVC2 (Q528R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 349084	NM_147127.5(EVC2):c.1498C>A (p.Arg500=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 286563	NM_147127.5(EVC2):c.1471-7T>C	EVC2	Single nucleotide variant (intron variant)	EVC2-related condition +4 more	GBenign/Likely benign
Select item 281704	NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)	EVC2, LOC126806961 (G488S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
Select item 772196	NM_147127.5(EVC2):c.1452G>A (p.Leu484=)	LOC126806961, EVC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193763	NM_147127.5(EVC2):c.1437A>G (p.Glu479=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 235428	NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)	EVC2, LOC126806961 (T462A +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 349085	NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)	EVC2, LOC126806961 (E457D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 193762	NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	EVC2, LOC126806961 (T455R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 349086	NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln)	EVC2, LOC126806961 (R449Q +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 461808	NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)	EVC2, LOC126806961	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

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