ZEB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 2443790	NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu)	ZEB1-AS1, LOC130003630 +1 more	Single nucleotide variant (missense variant +3 more)	Posterior polymorphous corneal dystrophy 3	GPathogenic
Select item 488897	NM_001174096.2(ZEB1):c.3G>A (p.Met1Ile)	LOC130003630, ZEB1 +1 more (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 785316	NM_001174096.2(ZEB1):c.102TGA[1] (p.Asp35del)	ZEB1 (D18del +2 more)	Microsatellite (inframe_deletion +2 more)	not provided	GBenign
Select item 2031411	NM_001174096.2(ZEB1):c.138T>C (p.Ser46=)	ZEB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2031412	NM_001174096.2(ZEB1):c.158G>C (p.Cys53Ser)	ZEB1 (C39S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3334287	NM_001174096.2(ZEB1):c.170C>T (p.Pro57Leu)	ZEB1 (P40L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2360828	NM_001174096.2(ZEB1):c.182T>G (p.Leu61Arg)	ZEB1 (L44R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1599567	NM_001174096.2(ZEB1):c.192C>T (p.Asp64=)	ZEB1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2624304	NM_001174096.2(ZEB1):c.209G>A (p.Gly70Glu)	ZEB1 (G56E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403803	NM_001174096.2(ZEB1):c.220G>A (p.Glu74Lys)	ZEB1 (E60K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 12633	NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)	ZEB1 (N78T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 2640396	NM_001174096.2(ZEB1):c.242A>G (p.Asn81Ser)	ZEB1 (N64S +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 155342	GRCh38/hg38 10p11.22(chr10:31468089-31622825)x3	LOC121366049, LOC129390161 +5 more	Copy number gain	See cases	GLikely benign
Select item 2957453	NM_001174096.2(ZEB1):c.322+19C>T	ZEB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3192815	NM_001174096.2(ZEB1):c.331G>A (p.Asp111Asn)	ZEB1 (D110N +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3192817	NM_001174096.2(ZEB1):c.340G>C (p.Glu114Gln)	ZEB1 (E113Q +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3334285	NM_001174096.2(ZEB1):c.358G>A (p.Glu120Lys)	ZEB1 (E105K +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3192818	NM_001174096.2(ZEB1):c.359A>G (p.Glu120Gly)	ZEB1 (E102G +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2028102	NM_001174096.2(ZEB1):c.400C>T (p.Gln134Ter)	ZEB1 (Q119* +7 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2607062	NM_001174096.2(ZEB1):c.428C>T (p.Ala143Val)	ZEB1 (A129V +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3192819	NM_001174096.2(ZEB1):c.467G>T (p.Ser156Ile)	ZEB1 (S135I +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2856261	NM_001174096.2(ZEB1):c.482_483del (p.Asn161fs)	ZEB1 (N140fs +7 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 742402	NM_001174096.2(ZEB1):c.492A>G (p.Pro164=)	ZEB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1032236	NM_001174096.2(ZEB1):c.504del (p.Gln169fs)	ZEB1 (Q148fs +10 more)	Deletion (frameshift variant +1 more)	Corneal dystrophy, Fuchs endothelial, 6	GLikely pathogenic
Select item 2280566	NM_001174096.2(ZEB1):c.578G>A (p.Arg193His)	ZEB1 (R178H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788562	NM_001174096.2(ZEB1):c.606T>C (p.Ser202=)	ZEB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3334289	NM_001174096.2(ZEB1):c.619A>G (p.Ser207Gly)	ZEB1 (S115G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540304	NM_001174096.2(ZEB1):c.622T>G (p.Tyr208Asp)	ZEB1 (Y140D +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1300210	NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter)	ZEB1 (Y116* +10 more)	Duplication (nonsense +1 more)	Polymorphous corneal dystrophy	GLikely pathogenic
Select item 716804	NM_001174096.2(ZEB1):c.687+10A>G	ZEB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601051	NM_001174096.2(ZEB1):c.688-15G>A	ZEB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300211	NM_001174096.2(ZEB1):c.688-1G>A	ZEB1	Single nucleotide variant (splice acceptor variant)	Posterior polymorphous corneal dystrophy 1	GLikely pathogenic
Select item 2664719	NM_001174096.2(ZEB1):c.692_693del (p.His231fs)	ZEB1 (H12fs +11 more)	Deletion (frameshift variant)	Posterior polymorphous corneal dystrophy 3	GLikely pathogenic
Select item 3192820	NM_001174096.2(ZEB1):c.698C>T (p.Thr233Met)	ZEB1 (T14M +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1536748	NM_001174096.2(ZEB1):c.699G>A (p.Thr233=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2284568	NM_001174096.2(ZEB1):c.703T>C (p.Ser235Pro)	ZEB1 (S217P +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2103756	NM_001174096.2(ZEB1):c.737G>A (p.Cys246Tyr)	ZEB1 (C157Y +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715018	NM_001174096.2(ZEB1):c.792T>C (p.Ser264=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917255	NM_001174096.2(ZEB1):c.794-21TTTG[3]	ZEB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2444117	NM_001174096.2(ZEB1):c.831del (p.Ser279fs)	ZEB1 (S187fs +11 more)	Deletion (frameshift variant)	Corneal dystrophy, Fuchs endothelial, 6	GLikely pathogenic
Select item 2694368	NM_001174096.2(ZEB1):c.862dup (p.Ile288fs)	ZEB1 (I196fs +11 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2640397	NM_001174096.2(ZEB1):c.865A>G (p.Ser289Gly)	ZEB1 (S197G +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3192821	NM_001174096.2(ZEB1):c.885C>A (p.Ser295Arg)	ZEB1 (S203R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410156	NM_001174096.2(ZEB1):c.896T>A (p.Val299Glu)	ZEB1 (V207E +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192822	NM_001174096.2(ZEB1):c.935G>A (p.Cys312Tyr)	ZEB1 (C244Y +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029928	NM_001174096.2(ZEB1):c.948T>C (p.Ser316=)	ZEB1	Single nucleotide variant (synonymous variant)	ZEB1-related disorder	GLikely benign
Select item 374184	NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)	ZEB1 (R325* +11 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 3192823	NM_001174096.2(ZEB1):c.988C>T (p.Arg330Trp)	ZEB1 (R316W +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298478	NM_001174096.2(ZEB1):c.998T>C (p.Ile333Thr)	ZEB1 (I114T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3192802	NM_001174096.2(ZEB1):c.1084G>T (p.Ala362Ser)	ZEB1 (A270S +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691711	NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)	ZEB1 (I146fs +11 more)	Duplication (frameshift variant)	Corneal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3334286	NM_001174096.2(ZEB1):c.1108C>G (p.Pro370Ala)	ZEB1 (P151A +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540770	NM_001174096.2(ZEB1):c.1225A>G (p.Asn409Asp)	ZEB1 (N334D +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3334288	NM_001174096.2(ZEB1):c.1244A>G (p.Asn415Ser)	ZEB1 (N323S +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788563	NM_001174096.2(ZEB1):c.1260G>A (p.Ala420=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 503716	NM_001174096.2(ZEB1):c.1335_1338del (p.Ile445fs)	ZEB1 (I424fs +11 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 12632	NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter)	ZEB1 (Q232* +11 more)	Single nucleotide variant (nonsense)	Posterior polymorphous corneal dystrophy 3	GPathogenic
Select item 2267467	NM_001174096.2(ZEB1):c.1364A>G (p.His455Arg)	ZEB1 (H437R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192803	NM_001174096.2(ZEB1):c.1393T>G (p.Leu465Val)	ZEB1 (L373V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308880	NM_001174096.2(ZEB1):c.1406A>G (p.Asp469Gly)	ZEB1 (D250G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2887985	NM_001174096.2(ZEB1):c.1441G>C (p.Glu481Gln)	ZEB1 (E463Q +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500583	NM_001174096.2(ZEB1):c.1485dup (p.Glu496fs)	ZEB1 (E277fs +11 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2484798	NM_001174096.2(ZEB1):c.1496T>C (p.Val499Ala)	ZEB1 (V280A +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599996	NM_001174096.2(ZEB1):c.1498G>A (p.Ala500Thr)	ZEB1 (A485T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2781746	NM_001174096.2(ZEB1):c.1570G>A (p.Glu524Lys)	ZEB1 (E435K +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437319	NM_001174096.2(ZEB1):c.1579dup (p.Val527fs)	ZEB1 (V438fs +11 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2571620	NM_001174096.2(ZEB1):c.1586_1595del (p.Asp529fs)	ZEB1 (D310fs +11 more)	Deletion (frameshift variant)	Corneal dystrophy	GPathogenic
Select item 788564	NM_001174096.2(ZEB1):c.1661A>G (p.Lys554Arg)	ZEB1 (K533R +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3192804	NM_001174096.2(ZEB1):c.1688C>T (p.Pro563Leu)	ZEB1 (P344L +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 817540	NM_001174096.2(ZEB1):c.1696G>T (p.Glu566Ter)	ZEB1 (E498* +11 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 743238	NM_001174096.2(ZEB1):c.1707G>A (p.Lys569=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588385	NM_001174096.2(ZEB1):c.1747T>G (p.Leu583Val)	ZEB1 (L491V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192805	NM_001174096.2(ZEB1):c.1778T>C (p.Leu593Pro)	ZEB1 (L576P +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257351	NM_001174096.2(ZEB1):c.1812del (p.Asn604fs)	ZEB1 (N385fs +11 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2434683	NM_001174096.2(ZEB1):c.1859del (p.Asn620fs)	ZEB1 (N401fs +11 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2033644	NM_001174096.2(ZEB1):c.1890del (p.Phe630fs)	ZEB1 (F609fs +11 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2530723	NM_001174096.2(ZEB1):c.1898T>G (p.Met633Arg)	ZEB1 (M633R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033627	NM_001174096.2(ZEB1):c.1903G>T (p.Ala635Ser)	ZEB1 (A416S +11 more)	Single nucleotide variant (missense variant)	ZEB1-related disorder	GUncertain significance
Select item 2480651	NM_001174096.2(ZEB1):c.1907G>A (p.Gly636Glu)	ZEB1 (G417E +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443788	NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)	ZEB1 (Q640H +11 more)	Single nucleotide variant (missense variant)	Corneal dystrophy, Fuchs endothelial, 6	GPathogenic
Select item 3192806	NM_001174096.2(ZEB1):c.1934C>T (p.Pro645Leu)	ZEB1 (P426L +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192807	NM_001174096.2(ZEB1):c.1949C>T (p.Pro650Leu)	ZEB1 (P561L +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2853981	NM_001174096.2(ZEB1):c.1972A>T (p.Lys658Ter)	ZEB1 (K439* +11 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 715019	NM_001174096.2(ZEB1):c.1977C>G (p.Asn659Lys)	ZEB1 (N440K +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 790080	NM_001174096.2(ZEB1):c.2064A>C (p.Pro688=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3036209	NM_001174096.2(ZEB1):c.2073A>G (p.Pro691=)	ZEB1	Single nucleotide variant (synonymous variant)	ZEB1-related disorder	GLikely benign
Select item 3192808	NM_001174096.2(ZEB1):c.2104A>G (p.Ser702Gly)	ZEB1 (S687G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223241	NM_001174096.2(ZEB1):c.2187A>C (p.Glu729Asp)	ZEB1 (E640D +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048406	NM_001174096.2(ZEB1):c.2242T>C (p.Leu748=)	ZEB1	Single nucleotide variant (synonymous variant)	ZEB1-related disorder	GLikely benign
Select item 2443789	NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)	ZEB1 (S750* +11 more)	Single nucleotide variant (nonsense)	Posterior polymorphous corneal dystrophy 3	GPathogenic
Select item 731047	NM_001174096.2(ZEB1):c.2254A>G (p.Thr752Ala)	ZEB1 (T677A +11 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3192809	NM_001174096.2(ZEB1):c.2257A>G (p.Ile753Val)	ZEB1 (I664V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314435	NM_001174096.2(ZEB1):c.2279G>A (p.Ser760Asn)	ZEB1 (S685N +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762298	NM_001174096.2(ZEB1):c.2337A>G (p.Gln779=)	ZEB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954648	NM_001174096.2(ZEB1):c.2401A>G (p.Ile801Val)	ZEB1 (I709V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334290	NM_001174096.2(ZEB1):c.2407A>G (p.Ile803Val)	ZEB1 (I728V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709250	NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr)	ZEB1 (I737T +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 715880	NM_001174096.2(ZEB1):c.2419A>G (p.Thr807Ala)	ZEB1 (T718A +11 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign

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