C0013903[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550613	NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del)	EVC2 (K1293del +1 more)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 556445	NM_147127.5(EVC2):c.3863del (p.Pro1288fs)	EVC2 (P1288fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 553833	NM_147127.5(EVC2):c.3660del (p.Ser1220fs)	EVC2 (S1140fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 554302	NM_147127.5(EVC2):c.3660-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 348980	NM_147127.5(EVC2):c.3659+2T>C	EVC2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552939	NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del)	EVC2 (G1201del +1 more)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 553692	NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)	EVC2 (R1200* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556530	NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del)	EVC2 (T1163del +1 more)	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 554154	NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)	EVC2 (P1073fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446666	NM_147127.5(EVC2):c.3360+1G>A	EVC2	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 219181	NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	EVC2 (W1047* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555989	NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val)	EVC2 (A1045V +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 556126	NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del)	EVC2 (Q1042del +1 more)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 556593	NM_147127.5(EVC2):c.3058-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 553457	NM_147127.5(EVC2):c.3057+1G>A	EVC2	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 554087	NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del)	EVC2 (L989del +1 more)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 556275	NM_147127.5(EVC2):c.2830-1G>A	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 555317	NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys)	EVC2 (E926K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 557286	NM_147127.5(EVC2):c.2707-1G>T	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 30665	NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)	EVC2 (R885* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 554547	NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)	EVC2 (R874* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553315	NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)	EVC2 (W828* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 280117	NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)	EVC2 (R826* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 551077	NM_147127.5(EVC2):c.2347_2349del (p.Glu783del)	EVC2 (E783del +1 more)	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 552863	NM_147127.5(EVC2):c.2343C>T (p.Gly781=)	EVC2	Single nucleotide variant (synonymous variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 194442	NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)	EVC2 (Q755* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic
Select item 552423	NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del)	EVC2 (R711del +1 more)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 551049	NM_147127.5(EVC2):c.2047-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 554558	NM_147127.5(EVC2):c.2046+1G>C	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 553922	NM_147127.5(EVC2):c.2046+1G>T	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 550579	NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)	EVC2 (R677* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 557795	NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)	EVC2	Deletion (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557971	NM_147127.5(EVC2):c.1887-1G>A	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 555162	NM_147127.5(EVC2):c.1711-1G>A	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 446664	NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)	EVC2 (Q570* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 552096	NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs)	EVC2 (G472fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 551536	NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del)	EVC2 (E520del +1 more)	Microsatellite (inframe_deletion)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 558637	NM_147127.5(EVC2):c.1471-1G>C	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 554836	NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)	EVC2, LOC126806961 (R383fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556539	NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp)	EVC2, LOC126806961	Deletion (inframe_indel)	Ellis-van Creveld syndrome	GUncertain significance
Select item 558394	NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn)	EVC2, LOC126806961	Deletion (inframe_indel)	Ellis-van Creveld syndrome	GUncertain significance
Select item 3383	NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	EVC2, LOC126806961 (R399* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 550494	NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs)	EVC2, LOC126806961 (A391fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 552179	NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del)	EVC2	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 550367	NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)	EVC2 (K342* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +2 more	GPathogenic/Likely pathogenic
Select item 550977	NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)	EVC2 (W314* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553798	NM_147127.5(EVC2):c.871-2_894del	EVC2	Deletion (splice acceptor variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552689	NM_147127.5(EVC2):c.893del (p.His298fs)	EVC2 (H218fs +1 more)	Deletion (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 262621	NM_147127.5(EVC2):c.885C>T (p.His295=)	EVC2	Single nucleotide variant (synonymous variant)	Ellis-van Creveld syndrome +3 more	GLikely benign
Select item 556018	NM_147127.5(EVC2):c.817-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 552259	NM_147127.5(EVC2):c.816+2T>C	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553207	NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)	EVC2 (E257* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552093	NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)	EVC2 (Q249* +1 more)	Single nucleotide variant (nonsense)	Curry-Hall syndrome +1 more	GPathogenic
Select item 550823	NM_147127.5(EVC2):c.707T>C (p.Val236Ala)	EVC2 (V236A +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
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 +1 more	GPathogenic/Likely pathogenic
Select item 558195	NM_147127.5(EVC2):c.534dup (p.Glu179Ter)	EVC2 (E179* +1 more)	Duplication (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic/Likely pathogenic
Select item 554580	NM_147127.5(EVC2):c.451-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 554626	NM_147127.5(EVC2):c.450+2T>C	EVC2	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 556872	NM_147127.5(EVC2):c.450+1del	EVC2	Deletion (splice donor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 556642	NM_147127.5(EVC2):c.450+1G>A	EVC2	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 373035	NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)	EVC2 (C88* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555866	NM_147127.5(EVC2):c.229-1G>T	EVC2	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 553077	NM_147127.5(EVC2):c.229-2A>G	EVC2	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 551794	NM_147127.5(EVC2):c.202_211dup (p.Pro71fs)	EVC2 (P71fs)	Microsatellite (frameshift variant +1 more)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 555475	NM_147127.5(EVC2):c.199_208del (p.Ser67fs)	EVC2 (S67fs)	Deletion (frameshift variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556341	NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)	EVC2 (S67fs)	Duplication (frameshift variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 551057	NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del)	EVC2	Deletion (inframe_deletion +1 more)	Ellis-van Creveld syndrome	GUncertain significance
Select item 550552	NM_147127.5(EVC2):c.142_151del (p.Asp49fs)	EVC2 (D49fs)	Deletion (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 551356	NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)	EVC2 (Q45*)	Single nucleotide variant (nonsense +1 more)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557201	NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del)	EVC2	Deletion (inframe_deletion +1 more)	Ellis-van Creveld syndrome	GUncertain significance
Select item 555651	NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)	EVC2 (G43fs)	Duplication (frameshift variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555118	NM_147127.5(EVC2):c.62dup (p.Ala22fs)	EVC2 (A22fs)	Duplication (frameshift variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556185	NM_147127.5(EVC2):c.50dup (p.Leu18fs)	EVC2 (L18fs)	Duplication (frameshift variant +1 more)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 558005	NM_153717.3(EVC):c.2T>A (p.Met1Lys)	EVC, LOC129992144 (M1K)	Single nucleotide variant (missense variant +1 more)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552255	NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)	EVC, LOC129992144	Deletion (nonsense)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555913	NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)	EVC (L16del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 555639	NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)	EVC	Duplication (inframe_insertion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 553957	NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)	EVC	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 551597	NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)	EVC	Duplication (inframe_insertion)	Ellis-van Creveld syndrome	GUncertain significance
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 551752	NM_153717.3(EVC):c.127_132dup (p.39_40GL[4])	EVC	Duplication (inframe_insertion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 557822	NM_153717.3(EVC):c.134G>A (p.Trp45Ter)	EVC (W45*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 556523	NM_153717.3(EVC):c.301-1G>A	EVC	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 551639	NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del)	EVC	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 446662	NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)	EVC (Y121*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556108	NM_153717.3(EVC):c.364C>T (p.Pro122Ser)	EVC (P122S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551134	NM_153717.3(EVC):c.384+5G>C	EVC	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 456000	NM_153717.3(EVC):c.617G>A (p.Ser206Asn)	EVC (S206N)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 550151	NM_153717.3(EVC):c.698dup (p.His233fs)	EVC (H233fs)	Duplication (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553747	NM_153717.3(EVC):c.702+1G>A	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 553461	NM_153717.3(EVC):c.703-1G>A	EVC	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 558626	NM_153717.3(EVC):c.720del (p.Phe240fs)	EVC (F240fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 550451	NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)	EVC	Deletion (inframe_indel)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 551517	NM_153717.3(EVC):c.740TTC[1] (p.Leu248del)	EVC (L248del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 556656	NM_153717.3(EVC):c.752dup (p.Lys252fs)	EVC (K252fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 554259	NM_153717.3(EVC):c.751AAG[1] (p.Lys252del)	EVC (K252del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 557972	NM_153717.3(EVC):c.801+2T>G	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 371398	NM_153717.3(EVC):c.802-1G>C	EVC	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 558023	NM_153717.3(EVC):c.835_837del (p.Lys279del)	EVC (K279del)	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 551674	NM_153717.3(EVC):c.873dup (p.Glu292Ter)	EVC (E292*)	Duplication (nonsense)	Curry-Hall syndrome +1 more	GPathogenic

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