"PreventionGenetics, part of Exact Sciences"[submitter] AND "EVC2"[gen - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 793096	NM_147127.5(EVC2):c.3558-6C>T	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 195540	NM_147127.5(EVC2):c.3557+10G>A	EVC2	Single nucleotide variant (intron variant)	Curry-Hall syndrome +3 more	GBenign
Select item 771811	NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1185861	NM_147127.5(EVC2):c.3505_3507delinsTAT (p.His1169Tyr)	EVC2 (H1089Y +1 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
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 771792	NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)	EVC2 (S1144N +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +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)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 711625	NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)	EVC2 (L1048M +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +2 more	GLikely benign
Select item 740130	NM_147127.5(EVC2):c.3272+8G>C	EVC2	Single nucleotide variant (intron variant)	EVC2-related disorder +2 more	GBenign/Likely benign
Select item 903216	NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)	EVC2 (A997T +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +1 more	GUncertain significance
Select item 446685	NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)	EVC2 (Q1041* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic
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)	EVC2-related disorder +2 more	GLikely benign
Select item 767170	NM_147127.5(EVC2):c.2958C>T (p.Thr986=)	EVC2	Single nucleotide variant (synonymous variant)	EVC2-related disorder +3 more	GLikely benign
Select item 1102017	NM_147127.5(EVC2):c.2898G>A (p.Ser966=)	EVC2	Single nucleotide variant (synonymous variant)	EVC2-related disorder +2 more	GLikely benign
Select item 262614	NM_147127.5(EVC2):c.2707-24A>G	EVC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 286560	NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)	EVC2 (R874Q +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +3 more	GBenign/Likely benign
Select item 1117411	NM_147127.5(EVC2):c.2607C>G (p.Pro869=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +2 more	GLikely benign
Select item 281702	NM_147127.5(EVC2):c.2601C>T (p.Ala867=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 772045	NM_147127.5(EVC2):c.2571C>T (p.Gly857=)	EVC2	Single nucleotide variant (synonymous variant)	EVC2-related disorder +2 more	GBenign/Likely benign
Select item 262613	NM_147127.5(EVC2):c.2501+41G>A	EVC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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)	not provided +3 more	GBenign/Likely benign
Select item 194443	NM_147127.5(EVC2):c.2244C>T (p.Thr748=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +3 more	GConflicting classifications of pathogenicity
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 1053813	NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn)	EVC2 (D654N +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GUncertain significance
Select item 194441	NM_147127.5(EVC2):c.2151C>T (p.His717=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +3 more	GBenign/Likely benign
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 787716	NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)	EVC2 (V613I +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +3 more	GBenign/Likely benign
Select item 2629388	NM_147127.5(EVC2):c.2072C>T (p.Ala691Val)	EVC2 (A611V +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder	GUncertain significance
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 281703	NM_147127.5(EVC2):c.2047-9A>T	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +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)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 235459	NM_147127.5(EVC2):c.2029C>A (p.Arg677=)	EVC2	Single nucleotide variant (synonymous variant)	EVC2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 391013	NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)	EVC2 (I652V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GBenign
Select item 262607	NM_147127.5(EVC2):c.1886+29G>A	EVC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 349077	NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)	EVC2 (E628K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GBenign/Likely benign
Select item 1434201	NM_147127.5(EVC2):c.1711-6T>A	EVC2	Single nucleotide variant (intron variant)	EVC2-related disorder +2 more	GUncertain significance
Select item 262606	NM_147127.5(EVC2):c.1711-20T>G	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 262605	NM_147127.5(EVC2):c.1710+14C>A	EVC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 286563	NM_147127.5(EVC2):c.1471-7T>C	EVC2	Single nucleotide variant (intron variant)	EVC2-related disorder +4 more	GBenign/Likely benign
Select item 262604	NM_147127.5(EVC2):c.1470+25G>A	EVC2, LOC126806961	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 281704	NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)	EVC2, LOC126806961 (G488S +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +4 more	GLikely benign
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 193762	NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	EVC2, LOC126806961 (T455R +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +4 more	GConflicting classifications of pathogenicity
Select item 750182	NM_147127.5(EVC2):c.1146-5C>G	EVC2, LOC126806961	Single nucleotide variant (intron variant)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 767181	NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)	EVC2 (P347L +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +2 more	GBenign
Select item 3036375	NM_147127.5(EVC2):c.1006-27ATT[2]	EVC2	Microsatellite (intron variant)	EVC2-related disorder	GLikely benign
Select item 904088	NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)	EVC2, LOC126806962 (G248E +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +3 more	GUncertain significance
Select item 550977	NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)	EVC2 (W314* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1082588	NM_147127.5(EVC2):c.921C>T (p.Leu307=)	EVC2	Single nucleotide variant (synonymous variant)	EVC2-related disorder +2 more	GLikely benign
Select item 739406	NM_147127.5(EVC2):c.888C>T (p.Gly296=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GLikely benign
Select item 262621	NM_147127.5(EVC2):c.885C>T (p.His295=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2183677	NM_147127.5(EVC2):c.707-10C>T	EVC2	Single nucleotide variant (intron variant)	EVC2-related disorder +2 more	GLikely benign
Select item 2140329	NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)	EVC2 (S230N +1 more)	Single nucleotide variant (missense variant)	EVC2-related disorder +2 more	GUncertain significance
Select item 262620	NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)	EVC2 (S230G +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GBenign
Select item 262619	NM_147127.5(EVC2):c.675A>G (p.Gly225=)	EVC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 851235	NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)	EVC2 (S143* +1 more)	Single nucleotide variant (nonsense)	EVC2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 446663	NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	EVC2 (D207Y +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 349095	NM_147127.5(EVC2):c.615G>A (p.Leu205=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +2 more	GConflicting classifications of pathogenicity
Select item 262617	NM_147127.5(EVC2):c.519+15G>A	EVC2	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +2 more	GBenign
Select item 498505	NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)	EVC2 (S155P +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 349098	NM_147127.5(EVC2):c.307T>C (p.Leu103=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +4 more	GBenign/Likely benign
Select item 767336	NM_147127.5(EVC2):c.209G>T (p.Gly70Val)	EVC2 (G70V)	Single nucleotide variant (missense variant +1 more)	EVC2-related disorder +2 more	GBenign/Likely benign
Select item 1142030	NM_147127.5(EVC2):c.180G>C (p.Leu60=)	EVC2	Single nucleotide variant (synonymous variant +1 more)	EVC2-related disorder +2 more	GLikely benign
Select item 193503	NM_147127.5(EVC2):c.122C>A (p.Pro41His)	EVC, EVC2 (P41H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285109	NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)	EVC, EVC2 (L31P)	Single nucleotide variant (missense variant +1 more)	EVC2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 262618	NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)	EVC, EVC2 (L18F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 262603	NM_147127.5(EVC2):c.-15G>A	EVC, EVC2	Single nucleotide variant (5 prime UTR variant +1 more)	Curry-Hall syndrome +2 more	GBenign/Likely benign

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Items: 73