"Counsyl"[submitter] AND "EVC"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 5343	NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	EVC (S307P)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 546095	NM_153717.3(EVC):c.928C>G (p.Leu310Val)	EVC (L310V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 554221	NM_153717.3(EVC):c.939+1G>C	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 349170	NM_153717.3(EVC):c.982C>T (p.Leu328Phe)	EVC (L328F)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 5340	NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	EVC (R340*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 555774	NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)	EVC (E354fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 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 550362	NM_153717.3(EVC):c.1084_1086del (p.Glu362del)	EVC (E362del)	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 554077	NM_153717.3(EVC):c.1252_1254del (p.Lys418del)	EVC (K418del)	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 551040	NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del)	EVC (Q425del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 551911	NM_153717.3(EVC):c.1286_1288del (p.Phe429del)	EVC (F429del)	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 555852	NM_153717.3(EVC):c.1373del (p.Gly458fs)	EVC (G458fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 262766	NM_153717.3(EVC):c.1464+20T>C	EVC	Single nucleotide variant (intron variant)	Ellis-van Creveld syndrome +1 more	GLikely benign
Select item 557196	NM_153717.3(EVC):c.1465-3_1472del	EVC	Deletion (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 556482	NM_153717.3(EVC):c.1473dup (p.Glu492Ter)	EVC (E492*)	Duplication (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 446659	NM_153717.3(EVC):c.1500G>A (p.Met500Ile)	EVC (M500I)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity
Select item 455998	NM_153717.3(EVC):c.1539del (p.Glu514fs)	EVC (E514fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 557788	NM_153717.3(EVC):c.1564-2A>G	EVC	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome	GLikely pathogenic
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 551227	NM_153717.3(EVC):c.1694del (p.Ala565fs)	EVC (A565fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 551792	NM_153717.3(EVC):c.1777-2A>G	EVC	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 554484	NM_153717.3(EVC):c.1777-1G>A	EVC	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550316	NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del)	EVC (E597del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome +1 more	GUncertain significance
Select item 555660	NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)	EVC (Q605*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GPathogenic
Select item 553254	NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)	EVC (L623P)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GConflicting classifications of pathogenicity
Select item 5338	NM_153717.3(EVC):c.1886+5G>T	EVC	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550897	NM_153717.3(EVC):c.1887-5_1904del	EVC	Deletion (splice acceptor variant)	Curry-Hall syndrome +3 more	GPathogenic/Likely pathogenic
Select item 558580	NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)	EVC	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 553018	NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)	EVC	Deletion (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 556814	NM_153717.3(EVC):c.2097+1G>T	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 554844	NM_153717.3(EVC):c.2098-1G>A	EVC	Single nucleotide variant (splice acceptor variant)	Ellis-van Creveld syndrome +1 more	GLikely pathogenic
Select item 557728	NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del)	EVC (E706del)	Microsatellite (inframe_deletion)	Ellis-van Creveld syndrome	GUncertain significance
Select item 451398	NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)	EVC (Q722*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371465	NM_153717.3(EVC):c.2176dup (p.Leu726fs)	EVC (L726fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 552015	NM_153717.3(EVC):c.2304+2T>C	EVC	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +2 more	GPathogenic/Likely pathogenic
Select item 554691	NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup)	EVC	Duplication (inframe_insertion)	Ellis-van Creveld syndrome	GUncertain significance
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 558104	NM_153717.3(EVC):c.2561+12_2561+23dup	EVC	Duplication (splice donor variant)	Ellis-van Creveld syndrome +1 more	GConflicting classifications of pathogenicity
Select item 551032	NM_153717.3(EVC):c.2561+1G>A	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome	GPathogenic/Likely pathogenic
Select item 556682	NM_153717.3(EVC):c.2561+12_2561+23del	EVC	Deletion (splice donor variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 551079	NM_153717.3(EVC):c.2668del (p.Gln890fs)	EVC (Q890fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 554747	NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC	EVC	Insertion (splice donor variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 554228	NM_153717.3(EVC):c.2688+1G>C	EVC	Single nucleotide variant (splice donor variant)	Curry-Hall syndrome +1 more	GLikely pathogenic
Select item 557670	NM_153717.3(EVC):c.2782+1del	EVC	Deletion (splice donor variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556536	NM_153717.3(EVC):c.2782+1G>T	EVC	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 445803	NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)	EVC (Q941*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 553456	NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)	EVC (D945fs)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 553729	NM_153717.3(EVC):c.2842dup (p.Val948fs)	EVC (V948fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 552408	NM_153717.3(EVC):c.2893dup (p.Ser965fs)	EVC (S965fs)	Duplication (frameshift variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 556554	NM_153717.3(EVC):c.2916_2935del (p.Glu973fs)	EVC (E972fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GUncertain significance
Select item 557965	NM_153717.3(EVC):c.2920del (p.Ser974fs)	EVC (S974fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GUncertain significance

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Items: 79