Related gene-specific medical variations for Gene (Select 9839) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361437	NM_014795.4(ZEB2):c.383C>T (p.Thr128Ile)	ZEB2 (T128I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361234	NM_014795.4(ZEB2):c.291G>A (p.Trp97Ter)	ZEB2 (W97*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3353043	NM_014795.4(ZEB2):c.592+7C>A	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	ZEB2-related disorder	GLikely benign
Select item 3250487	NM_014795.4(ZEB2):c.3171_3172del (p.Cys1057_Asp1058delinsTer)	ZEB2	Microsatellite (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 3247279	NC_000002.11:g.(?_145274845)_(145274917_?)dup	ZEB2	Duplication	Mowat-Wilson syndrome	GUncertain significance
Select item 3238798	NM_014795.4(ZEB2):c.950_951del (p.Lys317fs)	ZEB2 (K293fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 3065402	NM_014795.4(ZEB2):c.1098dup (p.Thr367fs)	ZEB2 (T343fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 3064371	NM_014795.4(ZEB2):c.-69-2A>C	ZEB2	Single nucleotide variant (splice acceptor variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 3062293	NM_014795.4(ZEB2):c.564del (p.Pro189fs)	LOC111721705, ZEB2 (P165fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 3062130	NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)	ZEB2 (P1030fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 3062046	NM_014795.4(ZEB2):c.463G>T (p.Glu155Ter)	ZEB2 (E131* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 3046616	NM_014795.4(ZEB2):c.592+6G>A	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	ZEB2-related disorder	GLikely benign
Select item 2908691	NM_014795.4(ZEB2):c.553C>T (p.Arg185Cys)	LOC111721705, ZEB2 (R161C +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2903739	NM_014795.4(ZEB2):c.585A>G (p.Glu195=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2817638	NM_014795.4(ZEB2):c.546G>A (p.Glu182=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2802205	NM_014795.4(ZEB2):c.520A>G (p.Ile174Val)	LOC111721705, ZEB2 (I150V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2747255	NM_014795.4(ZEB2):c.592+3G>A	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2687499	NM_014795.4(ZEB2):c.540del (p.Glu181fs)	LOC111721705, ZEB2 (E157fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2582355	NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)	ZEB2 (H297fs +1 more)	Indel (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2580854	NM_014795.4(ZEB2):c.916+6T>G	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2578393	NM_014795.3:c.1439_1440insAlu	ZEB2	Insertion	Mowat-Wilson syndrome	GPathogenic
Select item 2438646	NM_014795.4(ZEB2):c.1034G>A (p.Arg345Lys)	ZEB2 (R321K +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2438645	NM_014795.4(ZEB2):c.2312C>T (p.Pro771Leu)	ZEB2 (P747L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2131439	NM_014795.4(ZEB2):c.592+15C>T	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2045661	NM_014795.4(ZEB2):c.592+14T>A	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1746435	NM_014795.4(ZEB2):c.525T>C (p.Ile175=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1700141	NM_014795.4(ZEB2):c.2142_2143del (p.Leu715fs)	ZEB2 (L691fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1676464	NM_014795.4(ZEB2):c.953G>A (p.Arg318His)	ZEB2 (R294H +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1660286	NM_014795.4(ZEB2):c.582A>C (p.Gln194His)	LOC111721705, ZEB2 (Q170H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GBenign
Select item 1645597	NM_014795.4(ZEB2):c.505C>T (p.Arg169Cys)	LOC111721705, ZEB2 (R145C +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1589017	NM_014795.4(ZEB2):c.592+20T>C	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1576724	NM_014795.4(ZEB2):c.576T>C (p.Asn192=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1342505	NM_014795.4(ZEB2):c.3574G>C (p.Asp1192His)	ZEB2 (D1168H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1325369	NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter)	ZEB2 (Y931* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 1325368	NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter)	ZEB2 (C189* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 1323780	NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer)	ZEB2	Microsatellite (nonsense)	Mowat-Wilson syndrome	GPathogenic
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 1154592	NM_014795.4(ZEB2):c.564G>T (p.Thr188=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1128115	NM_014795.4(ZEB2):c.507C>T (p.Arg169=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 1124735	NM_014795.4(ZEB2):c.495G>A (p.Glu165=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 1035651	NM_014795.4(ZEB2):c.592+6_592+7delinsAA	LOC111721705, ZEB2	Indel (intron variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1005524	NM_014795.4(ZEB2):c.554G>A (p.Arg185His)	LOC111721705, ZEB2 (R161H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 987507	NM_014795.4(ZEB2):c.2803dup (p.Met935fs)	ZEB2 (M911fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 987318	NM_014795.4(ZEB2):c.1000T>G (p.Cys334Gly)	ZEB2 (C310G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 975783	NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs)	ZEB2 (S963fs +1 more)	Microsatellite (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 974830	NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs)	ZEB2 (D540fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 974618	NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr)	ZEB2 (C260Y +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely pathogenic
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 869448	NM_014795.4(ZEB2):c.2303del (p.Asn768fs)	ZEB2 (N744fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 801011	Single allele	ZEB2	Insertion	not provided	GPathogenic
Select item 691403	NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=)	ZEB2	Single nucleotide variant (synonymous variant)	Aganglionic megacolon	GUncertain significance
Select item 661350	NM_014795.4(ZEB2):c.585del (p.Glu196fs)	LOC111721705, ZEB2 (E172fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 657407	NM_014795.4(ZEB2):c.561C>T (p.Gly187=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 624149	NM_014795.4(ZEB2):c.495G>T (p.Glu165Asp)	LOC111721705, ZEB2 (E165D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 580089	NM_014795.4(ZEB2):c.575A>G (p.Asn192Ser)	LOC111721705, ZEB2 (N192S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 562525	GRCh37/hg19 2q22.3(chr2:145110888-145255210)x1	ZEB2	Copy number loss	not provided	GPathogenic
Select item 561146	NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter)	LOC111721705, ZEB2 (Q168* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 498093	NM_014795.4(ZEB2):c.508A>G (p.Ser170Gly)	LOC111721705, ZEB2 (S170G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448970	NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs)	ZEB2 (I715fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 437329	NM_014795.4(ZEB2):c.563C>T (p.Thr188Met)	LOC111721705, ZEB2 (T188M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 437321	NM_014795.4(ZEB2):c.582A>G (p.Gln194=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 424468	NM_014795.4(ZEB2):c.592+7C>G	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 389320	NM_014795.4(ZEB2):c.564G>A (p.Thr188=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +2 more	GLikely benign
Select item 384404	NM_014795.4(ZEB2):c.-70+8T>C	ZEB2, ZEB2-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 235349	NM_014795.4(ZEB2):c.1115del (p.Lys372fs)	ZEB2 (K372fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 189284	NM_014795.3(ZEB2):c.3068-?_(*5076_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 189270	NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 189268	NM_014795.3(ZEB2):c.404-?_(*5076_?)del	ZEB2	Deletion	Mowat-Wilson syndrome	GPathogenic
Select item 160326	NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)	LOC111721705, ZEB2 (S160fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 4761	NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs)	LOC111721705, ZEB2 (R161fs +1 more)	Insertion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic

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Items: 70