"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ZEB2"[gene - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331256	NM_014795.4(ZEB2):c.*2525dup	ZEB2	Duplication (3 prime UTR variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694965	NM_014795.4(ZEB2):c.*2518G>T	ZEB2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 331265	NM_014795.4(ZEB2):c.*2377GT[7]	ZEB2	Microsatellite (3 prime UTR variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2651393	NM_014795.4(ZEB2):c.*2387G>A	ZEB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1694966	NM_014795.4(ZEB2):c.*1992T>C	ZEB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 331298	NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val)	ZEB2 (M1214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1176742	NM_014795.4(ZEB2):c.3480C>T (p.Phe1160=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379072	NM_014795.4(ZEB2):c.3432C>T (p.Gly1144=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2651394	NM_014795.4(ZEB2):c.3307C>A (p.Pro1103Thr)	ZEB2 (P1079T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871532	NM_014795.4(ZEB2):c.3218A>G (p.His1073Arg)	ZEB2 (H1049R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 280856	NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	ZEB2 (R1016* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2651395	NM_014795.4(ZEB2):c.2823T>A (p.Thr941=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160323	NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	ZEB2 (R921* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +4 more	GPathogenic
Select item 808806	NM_014795.4(ZEB2):c.2752C>T (p.Pro918Ser)	ZEB2 (P918S +1 more)	Single nucleotide variant (missense variant)	ZEB2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 425214	NM_014795.4(ZEB2):c.2602G>A (p.Glu868Lys)	ZEB2 (E868K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437325	NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)	ZEB2 (T833A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 378870	NM_014795.4(ZEB2):c.2457A>G (p.Ser819=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +2 more	GBenign/Likely benign
Select item 3067788	NM_014795.4(ZEB2):c.2417_2432del (p.Phe806fs)	ZEB2 (F782fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 378869	NM_014795.4(ZEB2):c.2256G>A (p.Thr752=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 95630	NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)	ZEB2 (I744V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2651396	NM_014795.4(ZEB2):c.2181A>G (p.Leu727=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 95627	NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)	ZEB2 (P714L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +3 more	GBenign/Likely benign
Select item 181737	NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)	ZEB2 (R695Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1600563	NM_014795.4(ZEB2):c.2043G>A (p.Val681=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GBenign/Likely benign
Select item 2115406	NM_014795.4(ZEB2):c.2025G>A (p.Leu675=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3024925	NM_014795.4(ZEB2):c.1928A>G (p.Lys643Arg)	ZEB2 (K619R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1153341	NM_014795.4(ZEB2):c.1875C>T (p.Ala625=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95625	NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +2 more	GBenign/Likely benign
Select item 946656	NM_014795.4(ZEB2):c.1655G>A (p.Ser552Asn)	ZEB2 (S528N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 871533	NM_014795.4(ZEB2):c.1630dup (p.Thr544fs)	ZEB2 (T520fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 137946	NM_014795.4(ZEB2):c.1587G>A (p.Thr529=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 374622	NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)	ZEB2	Single nucleotide variant (synonymous variant)	ZEB2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 95622	NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)	ZEB2 (P494S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 2571084	NM_014795.4(ZEB2):c.1408dup (p.Thr470fs)	ZEB2 (T446fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2651397	NM_014795.4(ZEB2):c.1342C>T (p.Leu448Phe)	ZEB2 (L424F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95619	NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)	ZEB2 (M436V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +4 more	GBenign/Likely benign
Select item 181711	NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)	ZEB2 (L426I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 466274	NM_014795.4(ZEB2):c.1221C>T (p.His407=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 808807	NM_014795.4(ZEB2):c.1183C>G (p.Leu395Val)	ZEB2 (L395V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95618	NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 95643	NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1701389	NM_014795.4(ZEB2):c.881A>C (p.Lys294Thr)	ZEB2 (K270T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95642	NM_014795.4(ZEB2):c.807+3G>C	ZEB2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 137944	NM_014795.4(ZEB2):c.798G>C (p.Gly266=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 137943	NM_014795.4(ZEB2):c.759C>T (p.Arg253=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2582982	NM_014795.4(ZEB2):c.753C>T (p.Ala251=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1218174	NM_014795.4(ZEB2):c.726C>T (p.Ser242=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 1447734	NM_014795.4(ZEB2):c.697C>T (p.Arg233Cys)	ZEB2 (R209C +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 932370	NM_014795.4(ZEB2):c.528C>T (p.Tyr176=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176743	NM_014795.4(ZEB2):c.498C>A (p.Tyr166Ter)	LOC111721705, ZEB2 (Y142* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 624149	NM_014795.4(ZEB2):c.495G>T (p.Glu165Asp)	LOC111721705, ZEB2 (E165D +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 95637	NM_014795.4(ZEB2):c.489C>T (p.Ile163=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1442113	NM_014795.4(ZEB2):c.470A>G (p.Asp157Gly)	ZEB2 (D133G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 534637	NM_014795.4(ZEB2):c.467G>A (p.Arg156His)	ZEB2 (R156H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 377259	NM_014795.4(ZEB2):c.388A>G (p.Ile130Val)	ZEB2 (I130V)	Single nucleotide variant (missense variant +1 more)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 167858	NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)	ZEB2 (T125M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1000942	NM_014795.4(ZEB2):c.338T>C (p.Met113Thr)	ZEB2 (M113T)	Single nucleotide variant (missense variant +1 more)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 466286	NM_014795.4(ZEB2):c.324T>C (p.Asp108=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 871534	NM_014795.4(ZEB2):c.318T>A (p.Ser106=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437322	NM_014795.4(ZEB2):c.309A>G (p.Leu103=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 181724	NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)	ZEB2 (I102F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1046836	NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro)	ZEB2 (L56P)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2651398	NM_014795.4(ZEB2):c.73+3569T>C	ZEB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2651399	NM_014795.4(ZEB2):c.73+3538G>A	ZEB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2498831	NM_014795.4(ZEB2):c.73+3504C>T	ZEB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 916341	NM_014795.4(ZEB2):c.-69-1G>C	ZEB2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1694967	NM_014795.4(ZEB2):c.-69-729A>C	ZEB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675791	NC_000002.12:g.144520475_144520477dup	ZEB2, ZEB2-AS1	Duplication	not provided	GBenign
Select item 3024617	GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1	ARHGAP15, GTDC1 +3 more	Copy number loss	not provided	GPathogenic

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Items: 69