"Myriad Genetics, Inc."[submitter] AND "EVC2"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725939	NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)	EVC2 (Q1099* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1723946	NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)	EVC2 (Q1074fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726920	NM_147127.5(EVC2):c.3411del (p.Thr1138fs)	EVC2 (T1058fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725070	NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)	EVC2 (E1014fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 3386	NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)	EVC2 (Q1009* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1724051	NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)	EVC2 (I1057fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724388	NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)	EVC2 (E1015* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724568	NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)	EVC2 (E880* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725053	NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)	EVC2 (R872fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726287	NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)	EVC2 (R872fs +1 more)	Microsatellite (frameshift variant)	Curry-Hall syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1726405	NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)	EVC2 (E871* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724085	NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)	EVC2 (L868fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 3387	NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)	EVC2 (R870W +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +1 more	GUncertain significance
Select item 1724573	NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)	EVC2 (K842* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724551	NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)	EVC2 (K833* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724093	NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)	EVC2 (D719fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724021	NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)	EVC2 (T660fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724625	NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)	EVC2 (H628fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725337	NM_147127.5(EVC2):c.2053del (p.Glu685fs)	EVC2 (E605fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726307	NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)	EVC2 (Q589* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726099	NM_147127.5(EVC2):c.1997dup (p.Leu667fs)	EVC2 (L587fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726042	NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)	EVC2 (Y552* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724585	NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)	EVC2 (Q545fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724290	NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)	EVC2 (A538fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726446	NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)	EVC2 (K480fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724721	NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)	EVC2 (Q438fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724566	NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)	EVC2 (Q438fs +1 more)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725402	NM_147127.5(EVC2):c.1511del (p.Gly504fs)	EVC2 (G424fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724034	NM_147127.5(EVC2):c.1463del (p.Gly488fs)	EVC2, LOC126806961 (G408fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726539	NM_147127.5(EVC2):c.1313del (p.Leu438fs)	EVC2, LOC126806961 (L358fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724602	NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)	EVC2, LOC126806961 (L358* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724584	NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)	EVC2, LOC126806961 (V351fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724940	NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)	EVC2, LOC126806961 (S341fs +1 more)	Insertion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726017	NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)	EVC2, LOC126806961 (E316* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726816	NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)	EVC2 (Q258* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725434	NM_147127.5(EVC2):c.961del (p.Val321fs)	EVC2 (V241fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726504	NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)	EVC2 (F226fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726642	NM_147127.5(EVC2):c.775_781del (p.Leu259fs)	EVC2 (L179fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725725	NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)	EVC2 (G171fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724716	NM_147127.5(EVC2):c.711_717del (p.Asp238fs)	EVC2 (D158fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725164	NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)	EVC2 (T133fs +1 more)	Indel (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725082	NM_147127.5(EVC2):c.466del (p.Arg156fs)	EVC2 (R156fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1726907	NM_147127.5(EVC2):c.437_438del (p.Ile146fs)	EVC2 (I146fs +1 more)	Microsatellite (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1724502	NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)	EVC2 (K106* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GLikely pathogenic
Select item 1725840	NM_147127.5(EVC2):c.257_260del (p.Val86fs)	EVC2 (V6fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GLikely pathogenic

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Items: 45