ClinVar for MedGen (Select 341067) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25823551.	NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs) GRCh37: Chr2:145157784-145157792 GRCh38: Chr2:144400217-144400225	ZEB2	H297fs, H321fs	Mowat-Wilson syndrome	Pathogenic (Jun 27, 2023)	criteria provided, single submitter
Select item 25808542.	NM_014795.4(ZEB2):c.916+6T>G GRCh37: Chr2:145158760 GRCh38: Chr2:144401193	ZEB2		Mowat-Wilson syndrome	Pathogenic (Sep 1, 2023)	no assertion criteria provided
Select item 25783933.	NM_014795.3:c.1439_1440insAlu	ZEB2		Mowat-Wilson syndrome	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 25774254.	NM_014795.4(ZEB2):c.1870A>T (p.Lys624Ter) GRCh37: Chr2:145156884 GRCh38: Chr2:144399317	ZEB2	K600, K624	Mowat-Wilson syndrome	Pathogenic (Jun 5, 2023)	no assertion criteria provided
Select item 24444335.	NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs) GRCh37: Chr2:145156480-145156481 GRCh38: Chr2:144398913-144398914	ZEB2	L734fs, L758fs	Mowat-Wilson syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24423886.	NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter) GRCh37: Chr2:145153989-145153990 GRCh38: Chr2:144396422-144396423	ZEB2	Y1019, Y995	Mowat-Wilson syndrome	Pathogenic (Mar 10, 2021)	criteria provided, single submitter
Select item 24386467.	NM_014795.4(ZEB2):c.1034G>A (p.Arg345Lys) GRCh37: Chr2:145157720 GRCh38: Chr2:144400153	ZEB2	R321K, R345K	Mowat-Wilson syndrome	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 24386458.	NM_014795.4(ZEB2):c.2312C>T (p.Pro771Leu) GRCh37: Chr2:145156442 GRCh38: Chr2:144398875	ZEB2	P747L, P771L	Mowat-Wilson syndrome	Uncertain significance (Jun 11, 2021)	criteria provided, single submitter
Select item 24315999.	NM_014795.4(ZEB2):c.187G>A (p.Ala63Thr) GRCh37: Chr2:145187480 GRCh38: Chr2:144429913	ZEB2	A63T	Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 242597610.	NC_000002.11:g.(?_145147569)_(145148922_?)del GRCh37: Chr2:145147569-145148922	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 242597511.	NC_000002.11:g.(?_145147018)_(145274988_?)dup GRCh37: Chr2:145147018-145274988	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 242597412.	NC_000002.11:g.(?_145182343)_(145187613_?)del GRCh37: Chr2:145182343-145187613	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 242015013.	NM_014795.4(ZEB2):c.2672C>G (p.Ala891Gly) GRCh37: Chr2:145156082 GRCh38: Chr2:144398515	ZEB2	A867G, A891G	Mowat-Wilson syndrome	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 241357514.	NM_014795.4(ZEB2):c.2052T>C (p.Pro684=) GRCh37: Chr2:145156702 GRCh38: Chr2:144399135	ZEB2		Mowat-Wilson syndrome	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 241318015.	NM_014795.4(ZEB2):c.621dup (p.Ala208fs) GRCh37: Chr2:145161668-145161669 GRCh38: Chr2:144404101-144404102	ZEB2	A184fs, A208fs	Mowat-Wilson syndrome	Pathogenic	criteria provided, single submitter
Select item 220315516.	NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter) GRCh37: Chr2:145162570 GRCh38: Chr2:144405003	ZEB2	S118, S142	Mowat-Wilson syndrome	Pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 220315217.	NM_014795.4(ZEB2):c.2769C>G (p.Tyr923Ter) GRCh37: Chr2:145155985 GRCh38: Chr2:144398418	ZEB2	Y923, Y899	Mowat-Wilson syndrome	Pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 220070918.	NM_014795.4(ZEB2):c.690C>T (p.Ile230=) GRCh37: Chr2:145161600 GRCh38: Chr2:144404033	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 219956319.	NM_014795.4(ZEB2):c.593-16T>C GRCh37: Chr2:145161713 GRCh38: Chr2:144404146	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 219659220.	NM_014795.4(ZEB2):c.741C>T (p.Ser247=) GRCh37: Chr2:145161549 GRCh38: Chr2:144403982	ZEB2		Mowat-Wilson syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 219190621.	NM_014795.4(ZEB2):c.156T>C (p.Ile52=) GRCh37: Chr2:145187511 GRCh38: Chr2:144429944	ZEB2		Mowat-Wilson syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 218910222.	NM_014795.4(ZEB2):c.3138A>G (p.Ser1046=) GRCh37: Chr2:145147525 GRCh38: Chr2:144389958	ZEB2		Mowat-Wilson syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 218767623.	NM_014795.4(ZEB2):c.1397T>C (p.Ile466Thr) GRCh37: Chr2:145157357 GRCh38: Chr2:144399790	ZEB2	I466T, I442T	Mowat-Wilson syndrome	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 218764424.	NM_014795.4(ZEB2):c.331+17A>T GRCh37: Chr2:145187319 GRCh38: Chr2:144429752	ZEB2		Mowat-Wilson syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 218762825.	NM_014795.4(ZEB2):c.1835C>T (p.Ala612Val) GRCh37: Chr2:145156919 GRCh38: Chr2:144399352	ZEB2	A588V, A612V	Mowat-Wilson syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 218625326.	NM_014795.4(ZEB2):c.966T>C (p.Ser322=) GRCh37: Chr2:145157788 GRCh38: Chr2:144400221	ZEB2		Mowat-Wilson syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 217736627.	NM_014795.4(ZEB2):c.1113C>T (p.Asn371=) GRCh37: Chr2:145157641 GRCh38: Chr2:144400074	ZEB2		Mowat-Wilson syndrome	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 217719928.	NM_014795.4(ZEB2):c.3570G>C (p.Met1190Ile) GRCh37: Chr2:145147093 GRCh38: Chr2:144389526	ZEB2	M1190I, M1166I	Mowat-Wilson syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 217598529.	NM_014795.4(ZEB2):c.1958A>G (p.Lys653Arg) GRCh37: Chr2:145156796 GRCh38: Chr2:144399229	ZEB2	K653R, K629R	Mowat-Wilson syndrome	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217528030.	NM_014795.4(ZEB2):c.3300C>T (p.His1100=) GRCh37: Chr2:145147363 GRCh38: Chr2:144389796	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 217448131.	NM_014795.4(ZEB2):c.2716C>T (p.Pro906Ser) GRCh37: Chr2:145156038 GRCh38: Chr2:144398471	ZEB2	P906S, P882S	Mowat-Wilson syndrome	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 216911332.	NM_014795.4(ZEB2):c.3150G>A (p.Ser1050=) GRCh37: Chr2:145147513 GRCh38: Chr2:144389946	ZEB2		Mowat-Wilson syndrome	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 216252833.	NM_014795.4(ZEB2):c.285C>T (p.His95=) GRCh37: Chr2:145187382 GRCh38: Chr2:144429815	ZEB2		Mowat-Wilson syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 216207034.	NM_014795.4(ZEB2):c.2886+12A>G GRCh37: Chr2:145155856 GRCh38: Chr2:144398289	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 215961935.	NM_014795.4(ZEB2):c.808-20C>T GRCh37: Chr2:145158894 GRCh38: Chr2:144401327	ZEB2		Mowat-Wilson syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 215925336.	NM_014795.4(ZEB2):c.2519G>A (p.Ser840Asn) GRCh37: Chr2:145156235 GRCh38: Chr2:144398668	ZEB2	S840N, S816N	Mowat-Wilson syndrome	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 215806537.	NM_014795.4(ZEB2):c.481G>A (p.Val161Ile) GRCh37: Chr2:145162514 GRCh38: Chr2:144404947	ZEB2	V161I, V137I	Mowat-Wilson syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 215332838.	NM_014795.4(ZEB2):c.161A>G (p.Asn54Ser) GRCh37: Chr2:145187506 GRCh38: Chr2:144429939	ZEB2	N54S	Mowat-Wilson syndrome	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 214835539.	NM_014795.4(ZEB2):c.288C>T (p.Pro96=) GRCh37: Chr2:145187379 GRCh38: Chr2:144429812	ZEB2		Mowat-Wilson syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 214789440.	NM_014795.4(ZEB2):c.593-27CT[5] GRCh37: Chr2:145161713-145161714 GRCh38: Chr2:144404146-144404147	ZEB2		Mowat-Wilson syndrome	Benign (Jun 27, 2022)	criteria provided, single submitter
Select item 214411441.	NM_014795.4(ZEB2):c.2887-17G>A GRCh37: Chr2:145154176 GRCh38: Chr2:144396609	ZEB2		Mowat-Wilson syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 213525842.	NM_014795.4(ZEB2):c.1719G>T (p.Glu573Asp) GRCh37: Chr2:145157035 GRCh38: Chr2:144399468	ZEB2	E549D, E573D	Mowat-Wilson syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 213512443.	NM_014795.4(ZEB2):c.1364del (p.Ser455fs) GRCh37: Chr2:145157390 GRCh38: Chr2:144399823	ZEB2	S455fs, S431fs	Mowat-Wilson syndrome	Pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 213476844.	NM_014795.4(ZEB2):c.2863T>C (p.Tyr955His) GRCh37: Chr2:145155891 GRCh38: Chr2:144398324	ZEB2	Y931H, Y955H	Mowat-Wilson syndrome	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 213475545.	NM_014795.4(ZEB2):c.2193T>C (p.Ser731=) GRCh37: Chr2:145156561 GRCh38: Chr2:144398994	ZEB2		Mowat-Wilson syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213218346.	NM_014795.4(ZEB2):c.2954G>T (p.Cys985Phe) GRCh37: Chr2:145154092 GRCh38: Chr2:144396525	ZEB2	C985F, C961F	Mowat-Wilson syndrome	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 213179547.	NM_014795.4(ZEB2):c.2391C>G (p.His797Gln) GRCh37: Chr2:145156363 GRCh38: Chr2:144398796	ZEB2	H773Q, H797Q	Mowat-Wilson syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213145048.	NM_014795.4(ZEB2):c.838C>T (p.Arg280Cys) GRCh37: Chr2:145158844 GRCh38: Chr2:144401277	ZEB2	R256C, R280C	Mowat-Wilson syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 213143949.	NM_014795.4(ZEB2):c.592+15C>T GRCh37: Chr2:145162388 GRCh38: Chr2:144404821	LOC111721705, ZEB2		Mowat-Wilson syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212959750.	NM_014795.4(ZEB2):c.1349_1350del (p.Phe450fs) GRCh37: Chr2:145157404-145157405 GRCh38: Chr2:144399837-144399838	ZEB2	F426fs, F450fs	Mowat-Wilson syndrome	Pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 212772051.	NM_014795.4(ZEB2):c.2618A>G (p.Asn873Ser) GRCh37: Chr2:145156136 GRCh38: Chr2:144398569	ZEB2	N849S, N873S	Mowat-Wilson syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212760052.	NM_014795.4(ZEB2):c.2887-7A>G GRCh37: Chr2:145154166 GRCh38: Chr2:144396599	ZEB2		Mowat-Wilson syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 212601153.	NM_014795.4(ZEB2):c.3638G>T (p.Gly1213Val) GRCh37: Chr2:145147025 GRCh38: Chr2:144389458	ZEB2	G1213V, G1189V	Mowat-Wilson syndrome	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212337654.	NM_014795.4(ZEB2):c.2024del (p.Leu675fs) GRCh37: Chr2:145156730 GRCh38: Chr2:144399163	ZEB2	L651fs, L675fs	Mowat-Wilson syndrome	Pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 212129955.	NM_014795.4(ZEB2):c.2874A>G (p.Lys958=) GRCh37: Chr2:145155880 GRCh38: Chr2:144398313	ZEB2		Mowat-Wilson syndrome	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 212022356.	NM_014795.4(ZEB2):c.985A>T (p.Ile329Phe) GRCh37: Chr2:145157769 GRCh38: Chr2:144400202	ZEB2	I329F, I305F	Mowat-Wilson syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211853057.	NM_014795.4(ZEB2):c.113C>G (p.Thr38Arg) GRCh37: Chr2:145187554 GRCh38: Chr2:144429987	ZEB2	T38R	Mowat-Wilson syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211770158.	NM_014795.4(ZEB2):c.711T>C (p.Asn237=) GRCh37: Chr2:145161579 GRCh38: Chr2:144404012	ZEB2		Mowat-Wilson syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 211706359.	NM_014795.4(ZEB2):c.3033C>T (p.Ser1011=) GRCh37: Chr2:145154013 GRCh38: Chr2:144396446	ZEB2		Mowat-Wilson syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 211657060.	NM_014795.4(ZEB2):c.1507G>T (p.Val503Phe) GRCh37: Chr2:145157247 GRCh38: Chr2:144399680	ZEB2	V479F, V503F	Mowat-Wilson syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 211540661.	NM_014795.4(ZEB2):c.2025G>A (p.Leu675=) GRCh37: Chr2:145156729 GRCh38: Chr2:144399162	ZEB2		Mowat-Wilson syndrome, not provided	Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211484362.	NM_014795.4(ZEB2):c.801A>G (p.Thr267=) GRCh37: Chr2:145161489 GRCh38: Chr2:144403922	ZEB2		Mowat-Wilson syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 211435763.	NM_014795.4(ZEB2):c.2649G>T (p.Val883=) GRCh37: Chr2:145156105 GRCh38: Chr2:144398538	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 211432364.	NM_014795.4(ZEB2):c.3068G>T (p.Gly1023Val) GRCh37: Chr2:145147595 GRCh38: Chr2:144390028	ZEB2	G999V, G1023V	Mowat-Wilson syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 211241765.	NM_014795.4(ZEB2):c.43C>A (p.Arg15Ser) GRCh37: Chr2:145274875 GRCh38: Chr2:144517308	ZEB2	R15S	Mowat-Wilson syndrome	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 211194066.	NM_014795.4(ZEB2):c.296A>G (p.Asn99Ser) GRCh37: Chr2:145187371 GRCh38: Chr2:144429804	ZEB2	N99S	Mowat-Wilson syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211127267.	NM_014795.4(ZEB2):c.593-7G>A GRCh37: Chr2:145161704 GRCh38: Chr2:144404137	ZEB2		Mowat-Wilson syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 211010868.	NM_014795.4(ZEB2):c.73+9C>A GRCh37: Chr2:145274836 GRCh38: Chr2:144517269	ZEB2		Mowat-Wilson syndrome	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 210879569.	NM_014795.4(ZEB2):c.1652T>A (p.Ile551Asn) GRCh37: Chr2:145157102 GRCh38: Chr2:144399535	ZEB2	I527N, I551N	Mowat-Wilson syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210740970.	NM_014795.4(ZEB2):c.1700_1703del (p.Thr567fs) GRCh37: Chr2:145157051-145157054 GRCh38: Chr2:144399484-144399487	ZEB2	T543fs, T567fs	Mowat-Wilson syndrome	Pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 210434971.	NM_014795.4(ZEB2):c.190A>C (p.Ser64Arg) GRCh37: Chr2:145187477 GRCh38: Chr2:144429910	ZEB2	S64R	Mowat-Wilson syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210141372.	NM_014795.4(ZEB2):c.3166C>T (p.Gln1056Ter) GRCh37: Chr2:145147497 GRCh38: Chr2:144389930	ZEB2	Q1032, Q1056	Mowat-Wilson syndrome	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 210121373.	NM_014795.4(ZEB2):c.1813A>C (p.Lys605Gln) GRCh37: Chr2:145156941 GRCh38: Chr2:144399374	ZEB2	K605Q, K581Q	Mowat-Wilson syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209686574.	NM_014795.4(ZEB2):c.2242dup (p.His748fs) GRCh37: Chr2:145156511-145156512 GRCh38: Chr2:144398944-144398945	ZEB2	H748fs, H724fs	Mowat-Wilson syndrome	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 209370975.	NM_014795.4(ZEB2):c.1347G>A (p.Gly449=) GRCh37: Chr2:145157407 GRCh38: Chr2:144399840	ZEB2		Mowat-Wilson syndrome	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 209262276.	NM_014795.4(ZEB2):c.1971T>C (p.Ser657=) GRCh37: Chr2:145156783 GRCh38: Chr2:144399216	ZEB2		Mowat-Wilson syndrome	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 209240977.	NM_014795.4(ZEB2):c.1439C>T (p.Ala480Val) GRCh37: Chr2:145157315 GRCh38: Chr2:144399748	ZEB2	A456V, A480V	Mowat-Wilson syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 209187678.	NM_014795.4(ZEB2):c.917-2A>G GRCh37: Chr2:145157839 GRCh38: Chr2:144400272	ZEB2		Mowat-Wilson syndrome	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 209099679.	NM_014795.4(ZEB2):c.3451C>T (p.Leu1151=) GRCh37: Chr2:145147212 GRCh38: Chr2:144389645	ZEB2		Mowat-Wilson syndrome	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 208965080.	NM_014795.4(ZEB2):c.2506A>G (p.Lys836Glu) GRCh37: Chr2:145156248 GRCh38: Chr2:144398681	ZEB2	K812E, K836E	Mowat-Wilson syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 208775281.	NM_014795.4(ZEB2):c.3289G>A (p.Glu1097Lys) GRCh37: Chr2:145147374 GRCh38: Chr2:144389807	ZEB2	E1073K, E1097K	Mowat-Wilson syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 208700782.	NM_014795.4(ZEB2):c.3283G>A (p.Ala1095Thr) GRCh37: Chr2:145147380 GRCh38: Chr2:144389813	ZEB2	A1071T, A1095T	Mowat-Wilson syndrome	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 207718183.	NM_014795.4(ZEB2):c.919G>A (p.Glu307Lys) GRCh37: Chr2:145157835 GRCh38: Chr2:144400268	ZEB2	E307K, E283K	Mowat-Wilson syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 207703084.	NM_014795.4(ZEB2):c.3100_3103del (p.Lys1034fs) GRCh37: Chr2:145147560-145147563 GRCh38: Chr2:144389993-144389996	ZEB2	K1034fs, K1010fs	Mowat-Wilson syndrome	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 207569685.	NM_014795.4(ZEB2):c.239C>T (p.Pro80Leu) GRCh37: Chr2:145187428 GRCh38: Chr2:144429861	ZEB2	P80L	Mowat-Wilson syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 206759986.	NM_014795.4(ZEB2):c.3595A>T (p.Met1199Leu) GRCh37: Chr2:145147068 GRCh38: Chr2:144389501	ZEB2	M1175L, M1199L	Mowat-Wilson syndrome	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 206591587.	NM_014795.4(ZEB2):c.1204G>A (p.Val402Ile) GRCh37: Chr2:145157550 GRCh38: Chr2:144399983	ZEB2	V378I, V402I	Mowat-Wilson syndrome	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 206482088.	NM_014795.4(ZEB2):c.1191C>A (p.Phe397Leu) GRCh37: Chr2:145157563 GRCh38: Chr2:144399996	ZEB2	F373L, F397L	Mowat-Wilson syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 206387589.	NM_014795.4(ZEB2):c.164C>T (p.Pro55Leu) GRCh37: Chr2:145187503 GRCh38: Chr2:144429936	ZEB2	P55L	Mowat-Wilson syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 206374990.	NM_014795.4(ZEB2):c.2886+10C>A GRCh37: Chr2:145155858 GRCh38: Chr2:144398291	ZEB2		Mowat-Wilson syndrome	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 206259091.	NM_014795.4(ZEB2):c.1132C>A (p.Pro378Thr) GRCh37: Chr2:145157622 GRCh38: Chr2:144400055	ZEB2	P354T, P378T	Mowat-Wilson syndrome	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 206144292.	NM_014795.4(ZEB2):c.1827G>C (p.Glu609Asp) GRCh37: Chr2:145156927 GRCh38: Chr2:144399360	ZEB2	E585D, E609D	Mowat-Wilson syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 205973593.	NM_014795.4(ZEB2):c.858del (p.Glu286fs) GRCh37: Chr2:145158824 GRCh38: Chr2:144401257	ZEB2	E262fs, E286fs	Mowat-Wilson syndrome	Pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 205960094.	NM_014795.4(ZEB2):c.1982C>G (p.Ala661Gly) GRCh37: Chr2:145156772 GRCh38: Chr2:144399205	ZEB2	A637G, A661G	Mowat-Wilson syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 205443195.	NM_014795.4(ZEB2):c.332-19_332-14del GRCh37: Chr2:145182448-145182453 GRCh38: Chr2:144424881-144424886	ZEB2		Mowat-Wilson syndrome	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 205205896.	NM_014795.4(ZEB2):c.2896C>T (p.Leu966Phe) GRCh37: Chr2:145154150 GRCh38: Chr2:144396583	ZEB2	L942F, L966F	Mowat-Wilson syndrome	Benign (Jun 4, 2022)	criteria provided, single submitter
Select item 204927197.	NM_014795.4(ZEB2):c.32G>C (p.Arg11Pro) GRCh37: Chr2:145274886 GRCh38: Chr2:144517319	ZEB2	R11P	Mowat-Wilson syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 204748198.	NM_014795.4(ZEB2):c.1846C>G (p.Pro616Ala) GRCh37: Chr2:145156908 GRCh38: Chr2:144399341	ZEB2	P616A, P592A	Mowat-Wilson syndrome	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 204566199.	NM_014795.4(ZEB2):c.592+14T>A GRCh37: Chr2:145162389 GRCh38: Chr2:144404822	ZEB2, LOC111721705		Mowat-Wilson syndrome	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 2045496100.	NM_014795.4(ZEB2):c.94G>A (p.Val32Met) GRCh37: Chr2:145187573 GRCh38: Chr2:144430006	ZEB2	V32M	Mowat-Wilson syndrome	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter

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