9839[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1484321.	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1 GRCh37: Chr2:137694928-147439378 GRCh38: Chr2:136937358-146681810	ARHGAP15, ARHGAP15-AS1, GTDC1, HNMT, KYNU, LINC01412, LINC01832, LINC01853, LINC01966, LINC02631, LINC02993, LOC101928273, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111556162, LOC111721705, LOC112806051, LOC121725104, LOC122819161, LOC122819162, LOC122819163, LOC122819164, LRP1B, MIR7157, NXPH2, SPOPL, SPOPL-DT, TEX41, THSD7B, ZEB2, ZEB2-AS1		See cases	Pathogenic (May 12, 2011)	no assertion criteria provided
Select item 573332.	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1 GRCh37: Chr2:140944090-147285812 GRCh38: Chr2:140186521-146528244	ARHGAP15, ARHGAP15-AS1, GTDC1, KYNU, LINC01412, LINC01966, LINC02993, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111556162, LOC111721705, LOC112806051, LOC122819163, LRP1B, MIR7157, TEX41, ZEB2, ZEB2-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 602123.	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1 GRCh37: Chr2:142424106-148603231 GRCh38: Chr2:141666537-147845662	ACVR2A, ARHGAP15, ARHGAP15-AS1, GTDC1, KYNU, LINC01412, LINC01911, LINC01966, LINC02993, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111556162, LOC111721705, LOC112806051, LOC122819163, LOC122819164, LRP1B, TEX41, ZEB2, ZEB2-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1502444.	GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)x1 GRCh37: Chr2:144051648-148471399 GRCh38: Chr2:143294079-147713830	ARHGAP15, ARHGAP15-AS1, GTDC1, LINC01412, LINC01911, LINC01966, LINC02993, LOC101928386, LOC107228318, LOC110120671, LOC110120706, LOC110120715, LOC110120731, LOC110120740, LOC110121209, LOC111721705, LOC112806051, LOC122819163, LOC122819164, TEX41, ZEB2, ZEB2-AS1		See cases	Pathogenic (May 3, 2012)	no assertion criteria provided
Select item 602135.	GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1 GRCh37: Chr2:144631279-145270874 GRCh38: Chr2:143873711-144513307	GTDC1, LOC101928386, LOC110120671, LOC111721705, LOC112806051, LOC122819163, ZEB2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1460766.	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 GRCh37: Chr2:144657717-159178136 GRCh38: Chr2:143900149-158321624	ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CCDC148, CCDC148-AS1, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT5, GPD2, GTDC1, KCNJ3, KIF5C, LINC01412, LINC01817, LINC01818, LINC01876, LINC01911, LINC01920, LINC01931, LINC01966, LINC02612, LINC02993, LOC100144595, LOC101928386, LOC101929319, LOC107228318, LOC108348024, LOC110120671, LOC110120673, LOC110120674, LOC110120675, LOC110120706, LOC110120708, LOC110120710, LOC110120715, LOC110120731, LOC110120736, LOC110121086, LOC110121209, LOC111556122, LOC111721705, LOC112806051, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC121725105, LOC122819163, LOC122819164, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TEX41, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, ZEB2, ZEB2-AS1		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 344547.	GRCh38/hg38 2q22.3(chr2:143900149-144668138)x3 GRCh37: Chr2:144657717-145425705 GRCh38: Chr2:143900149-144668138	GTDC1, LINC01412, LINC02993, LOC101928386, LOC110120671, LOC110121209, LOC111721705, LOC112806051, LOC122819163, TEX41, ZEB2, ZEB2-AS1		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 602148.	GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1 GRCh37: Chr2:144746353-145315596 GRCh38: Chr2:143988786-144558029	GTDC1, LINC01412, LINC02993, LOC110120671, LOC111721705, LOC112806051, LOC122819163, ZEB2, ZEB2-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 47659.	NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del GRCh38: Chr2:144114719-144681958	LOC111721705, ZEB2, LOC110121209, LOC110120671, TEX41, GTDC1, LINC01412, LOC112806051, LINC02993, LOC122819163, ZEB2-AS1		Mowat-Wilson syndrome	Pathogenic (Aug 1, 2003)	no assertion criteria provided
Select item 6021510.	GRCh38/hg38 2q22.3(chr2:144164576-144505879)x1 GRCh37: Chr2:144922143-145263446 GRCh38: Chr2:144164576-144505879	GTDC1, LOC110120671, LOC111721705, LOC112806051, LOC122819163, ZEB2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14993211.	GRCh38/hg38 2q22.3(chr2:144213114-144668146)x1 GRCh37: Chr2:144970681-145425713 GRCh38: Chr2:144213114-144668146	GTDC1, LINC01412, LINC02993, LOC110120671, LOC110121209, LOC111721705, LOC112806051, LOC122819163, TEX41, ZEB2, ZEB2-AS1		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 33122912.	NM_014795.4(ZEB2):c.4844_4845dup GRCh37: Chr2:145142172-145142173 GRCh38: Chr2:144384605-144384606	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33122813.	NM_014795.4(ZEB2):c.*4845dup GRCh37: Chr2:145142172-145142173 GRCh38: Chr2:144384605-144384606	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33123014.	NM_014795.4(ZEB2):c.*4845del GRCh37: Chr2:145142173 GRCh38: Chr2:144384606	ZEB2		Mowat-Wilson syndrome	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33125615.	NM_014795.4(ZEB2):c.*2525dup GRCh37: Chr2:145144492-145144493 GRCh38: Chr2:144386925-144386926	ZEB2		not provided, Mowat-Wilson syndrome	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 169496516.	NM_014795.4(ZEB2):c.*2518G>T GRCh37: Chr2:145144500 GRCh38: Chr2:144386933	ZEB2		not provided	Benign (Oct 1, 2022)	criteria provided, single submitter
Select item 33125817.	NM_014795.4(ZEB2):c.*2516del GRCh37: Chr2:145144502 GRCh38: Chr2:144386935	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33126118.	NM_014795.4(ZEB2):c.*2388TA[12] GRCh37: Chr2:145144612-145144613 GRCh38: Chr2:144387045-144387046	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33126019.	NM_014795.4(ZEB2):c.*2388TA[11] GRCh37: Chr2:145144612-145144613 GRCh38: Chr2:144387045-144387046	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33125920.	NM_014795.4(ZEB2):c.*2388TA[10] GRCh37: Chr2:145144612-145144613 GRCh38: Chr2:144387045-144387046	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33126221.	NM_014795.4(ZEB2):c.*2388TA[8] GRCh37: Chr2:145144613-145144614 GRCh38: Chr2:144387046-144387047	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33126322.	NM_014795.4(ZEB2):c.2396_2397insGT GRCh37: Chr2:145144621-145144622 GRCh38: Chr2:144387054-144387055	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33126523.	NM_014795.4(ZEB2):c.*2377GT[7] GRCh37: Chr2:145144629-145144630 GRCh38: Chr2:144387062-144387063	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 169496624.	NM_014795.4(ZEB2):c.*1992T>C GRCh37: Chr2:145145026 GRCh38: Chr2:144387459	ZEB2		not provided	Benign (May 1, 2022)	criteria provided, single submitter
Select item 33127125.	NM_014795.4(ZEB2):c.*1984del GRCh37: Chr2:145145034 GRCh38: Chr2:144387467	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33127426.	NM_014795.4(ZEB2):c.*1945del GRCh37: Chr2:145145073 GRCh38: Chr2:144387506	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33127827.	NM_014795.4(ZEB2):c.*1796dup GRCh37: Chr2:145145221-145145222 GRCh38: Chr2:144387654-144387655	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33128628.	NM_014795.4(ZEB2):c.*1110AAGAG[1] GRCh37: Chr2:145145899-145145903 GRCh38: Chr2:144388332-144388336	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 18781729.	NC_000002.12:g.(?_144388714)_(144520303_?)del GRCh37: Chr2:145146281-145277870 GRCh38: Chr2:144388714-144520303	LOC110120671, LOC111721705, LOC112806051, ZEB2, ZEB2-AS1		not provided	Pathogenic (Jan 30, 2015)	no assertion criteria provided
Select item 33128930.	NM_014795.4(ZEB2):c.*560dup GRCh37: Chr2:145146457-145146458 GRCh38: Chr2:144388890-144388891	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33129031.	NM_014795.4(ZEB2):c.*560del GRCh37: Chr2:145146458 GRCh38: Chr2:144388891	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33129132.	NM_014795.4(ZEB2):c.*514dup GRCh37: Chr2:145146503-145146504 GRCh38: Chr2:144388936-144388937	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33129233.	NM_014795.4(ZEB2):c.*514del GRCh37: Chr2:145146504 GRCh38: Chr2:144388937	ZEB2		Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33129734.	NM_014795.4(ZEB2):c.*35dup GRCh37: Chr2:145146982-145146983 GRCh38: Chr2:144389415-144389416	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 38731435.	NM_014795.4(ZEB2):c.*6T>G GRCh37: Chr2:145147012 GRCh38: Chr2:144389445	ZEB2		not specified	Likely benign (Jul 1, 2016)	criteria provided, single submitter
Select item 33129836.	NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) GRCh37: Chr2:145147023 GRCh38: Chr2:144389456	ZEB2	M1214V, M1190V	Inborn genetic diseases, Mowat-Wilson syndrome, not provided	Benign/Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212601137.	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 171771838.	NM_014795.4(ZEB2):c.3625A>G (p.Asn1209Asp) GRCh37: Chr2:145147038 GRCh38: Chr2:144389471	ZEB2	N1185D, N1209D	Mowat-Wilson syndrome	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 197095339.	NM_014795.4(ZEB2):c.3614A>G (p.His1205Arg) GRCh37: Chr2:145147049 GRCh38: Chr2:144389482	ZEB2	H1181R, H1205R	Mowat-Wilson syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 95887340.	NM_014795.4(ZEB2):c.3610G>A (p.Asp1204Asn) GRCh37: Chr2:145147053 GRCh38: Chr2:144389486	ZEB2	D1180N, D1204N	Mowat-Wilson syndrome	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 142449841.	NM_014795.4(ZEB2):c.3608C>T (p.Ser1203Leu) GRCh37: Chr2:145147055 GRCh38: Chr2:144389488	ZEB2	S1179L, S1203L	Mowat-Wilson syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 57401942.	NM_014795.4(ZEB2):c.3599A>G (p.Glu1200Gly) GRCh37: Chr2:145147064 GRCh38: Chr2:144389497	ZEB2	E1200G, E1176G	Mowat-Wilson syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 206759943.	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 200770544.	NM_014795.4(ZEB2):c.3591G>A (p.Gly1197_Lys1198=) GRCh37: Chr2:145147072 GRCh38: Chr2:144389505	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 38710245.	NM_014795.4(ZEB2):c.3582G>A (p.Ser1194=) GRCh37: Chr2:145147081 GRCh38: Chr2:144389514	ZEB2		not specified	Likely benign (Jul 17, 2017)	criteria provided, single submitter
Select item 53463646.	NM_014795.4(ZEB2):c.3575A>C (p.Asp1192Ala) GRCh37: Chr2:145147088 GRCh38: Chr2:144389521	ZEB2	D1192A, D1168A	Mowat-Wilson syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 202430547.	NM_014795.4(ZEB2):c.3574G>T (p.Asp1192Tyr) GRCh37: Chr2:145147089 GRCh38: Chr2:144389522	ZEB2	D1168Y, D1192Y	Mowat-Wilson syndrome	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 134250548.	NM_014795.4(ZEB2):c.3574G>C (p.Asp1192His) GRCh37: Chr2:145147089 GRCh38: Chr2:144389522	ZEB2	D1168H, D1192H	Mowat-Wilson syndrome	Uncertain significance (Apr 2, 2021)	criteria provided, single submitter
Select item 217719949.	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 476350.	NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) GRCh37: Chr2:145147095-145147096 GRCh38: Chr2:144389528-144389529	ZEB2	M1166fs, M1190fs	Mowat-Wilson syndrome	Pathogenic (Mar 15, 2002)	no assertion criteria provided
Select item 18171951.	NM_014795.4(ZEB2):c.3563A>G (p.His1188Arg) GRCh37: Chr2:145147100 GRCh38: Chr2:144389533	ZEB2	H1188R, H1164R	not specified	Likely benign (Nov 12, 2013)	criteria provided, single submitter
Select item 108225252.	NM_014795.4(ZEB2):c.3557G>C (p.Gly1186Ala) GRCh37: Chr2:145147106 GRCh38: Chr2:144389539	ZEB2	G1162A, G1186A	Mowat-Wilson syndrome	Likely benign (Mar 5, 2020)	criteria provided, single submitter
Select item 39114353.	NM_014795.4(ZEB2):c.3557G>T (p.Gly1186Val) GRCh37: Chr2:145147106 GRCh38: Chr2:144389539	ZEB2	G1186V, G1162V	not specified, Mowat-Wilson syndrome	Conflicting interpretations of pathogenicity (Nov 7, 2021)	criteria provided, conflicting interpretations
Select item 69140354.	NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=) GRCh37: Chr2:145147111 GRCh38: Chr2:144389544	ZEB2		Aganglionic megacolon	Uncertain significance (May 16, 2019)	no assertion criteria provided
Select item 18781355.	NM_014795.4(ZEB2):c.3544del (p.Glu1182fs) GRCh37: Chr2:145147119 GRCh38: Chr2:144389552	ZEB2	E1182fs, E1158fs	not provided	Pathogenic (Jan 30, 2015)	no assertion criteria provided
Select item 180599356.	NM_014795.4(ZEB2):c.3539G>A (p.Arg1180Gln) GRCh37: Chr2:145147124 GRCh38: Chr2:144389557	ZEB2	R1156Q, R1180Q	Mowat-Wilson syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 154355357.	NM_014795.4(ZEB2):c.3538C>A (p.Arg1180=) GRCh37: Chr2:145147125 GRCh38: Chr2:144389558	ZEB2		Mowat-Wilson syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 57241458.	NM_014795.4(ZEB2):c.3538C>G (p.Arg1180Gly) GRCh37: Chr2:145147125 GRCh38: Chr2:144389558	ZEB2	R1180G, R1156G	Mowat-Wilson syndrome	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134679359.	NM_014795.4(ZEB2):c.3536T>A (p.Ile1179Lys) GRCh37: Chr2:145147127 GRCh38: Chr2:144389560	ZEB2	I1155K, I1179K	Mowat-Wilson syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 57419160.	NM_014795.4(ZEB2):c.3536T>C (p.Ile1179Thr) GRCh37: Chr2:145147127 GRCh38: Chr2:144389560	ZEB2	I1179T, I1155T	not provided	Benign (Aug 23, 2018)	criteria provided, single submitter
Select item 166349861.	NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) GRCh37: Chr2:145147128 GRCh38: Chr2:144389561	ZEB2	I1155V, I1179V	Mowat-Wilson syndrome	Benign (Jul 12, 2021)	criteria provided, single submitter
Select item 16785262.	NM_014795.4(ZEB2):c.3533del (p.Thr1178fs) GRCh37: Chr2:145147130 GRCh38: Chr2:144389563	ZEB2	T1154fs, T1178fs	not provided	Pathogenic (May 16, 2013)	criteria provided, single submitter
Select item 93546763.	NM_014795.4(ZEB2):c.3527C>A (p.Pro1176His) GRCh37: Chr2:145147136 GRCh38: Chr2:144389569	ZEB2	P1152H, P1176H	Mowat-Wilson syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158900464.	NM_014795.4(ZEB2):c.3522G>A (p.Thr1174=) GRCh37: Chr2:145147141 GRCh38: Chr2:144389574	ZEB2		Mowat-Wilson syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 50791565.	NM_014795.4(ZEB2):c.3513T>C (p.Ser1171=) GRCh37: Chr2:145147150 GRCh38: Chr2:144389583	ZEB2		not specified	Likely benign (Mar 14, 2017)	criteria provided, single submitter
Select item 94619466.	NM_014795.4(ZEB2):c.3512G>A (p.Ser1171Asn) GRCh37: Chr2:145147151 GRCh38: Chr2:144389584	ZEB2	S1147N, S1171N	Mowat-Wilson syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 148186767.	NM_014795.4(ZEB2):c.3503A>C (p.Glu1168Ala) GRCh37: Chr2:145147160 GRCh38: Chr2:144389593	ZEB2	E1144A, E1168A	Mowat-Wilson syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 18176368.	NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) GRCh37: Chr2:145147164 GRCh38: Chr2:144389597	ZEB2	S1143fs, S1167fs	Mowat-Wilson syndrome	Pathogenic (Sep 18, 2014)	criteria provided, single submitter
Select item 70340369.	NM_014795.4(ZEB2):c.3495A>G (p.Glu1165=) GRCh37: Chr2:145147168 GRCh38: Chr2:144389601	ZEB2		Mowat-Wilson syndrome, not provided	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 152164070.	NM_014795.4(ZEB2):c.3492G>C (p.Glu1164Asp) GRCh37: Chr2:145147171 GRCh38: Chr2:144389604	ZEB2	E1140D, E1164D	Mowat-Wilson syndrome	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 70171271.	NM_014795.4(ZEB2):c.3489A>G (p.Glu1163=) GRCh37: Chr2:145147174 GRCh38: Chr2:144389607	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 29, 2020)	criteria provided, single submitter
Select item 117674272.	NM_014795.4(ZEB2):c.3480C>T (p.Phe1160=) GRCh37: Chr2:145147183 GRCh38: Chr2:144389616	ZEB2		not provided	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 9563673.	NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) GRCh37: Chr2:145147192 GRCh38: Chr2:144389625	ZEB2		Inborn genetic diseases, not specified, Mowat-Wilson syndrome	Benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80575474.	NM_014795.4(ZEB2):c.3469G>A (p.Asp1157Asn) GRCh37: Chr2:145147194 GRCh38: Chr2:144389627	ZEB2	D1133N, D1157N	not provided	Uncertain significance (Mar 26, 2019)	criteria provided, single submitter
Select item 102931275.	NM_014795.4(ZEB2):c.3467G>C (p.Gly1156Ala) GRCh37: Chr2:145147196 GRCh38: Chr2:144389629	ZEB2	G1156A, G1132A	Mowat-Wilson syndrome	Uncertain significance (Jul 8, 2020)	criteria provided, single submitter
Select item 114929076.	NM_014795.4(ZEB2):c.3466G>T (p.Gly1156Cys) GRCh37: Chr2:145147197 GRCh38: Chr2:144389630	ZEB2	G1132C, G1156C	Mowat-Wilson syndrome, Inborn genetic diseases	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139919477.	NM_014795.4(ZEB2):c.3463G>A (p.Asp1155Asn) GRCh37: Chr2:145147200 GRCh38: Chr2:144389633	ZEB2	D1131N, D1155N	Mowat-Wilson syndrome	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 79486278.	NM_014795.4(ZEB2):c.3459A>G (p.Arg1153=) GRCh37: Chr2:145147204 GRCh38: Chr2:144389637	ZEB2		not provided, Mowat-Wilson syndrome	Likely benign (Nov 8, 2018)	criteria provided, single submitter
Select item 103664279.	NM_014795.4(ZEB2):c.3454G>C (p.Gly1152Arg) GRCh37: Chr2:145147209 GRCh38: Chr2:144389642	ZEB2	G1128R, G1152R	not provided, Mowat-Wilson syndrome	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50795980.	NM_014795.4(ZEB2):c.3452T>C (p.Leu1151Pro) GRCh37: Chr2:145147211 GRCh38: Chr2:144389644	ZEB2	L1151P, L1127P	not specified	Likely benign (Mar 20, 2017)	criteria provided, single submitter
Select item 209099681.	NM_014795.4(ZEB2):c.3451C>T (p.Leu1151_Gly1152=) GRCh37: Chr2:145147212 GRCh38: Chr2:144389645	ZEB2		Mowat-Wilson syndrome	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 201097682.	NM_014795.4(ZEB2):c.3451C>G (p.Leu1151Val) GRCh37: Chr2:145147212 GRCh38: Chr2:144389645	ZEB2	L1127V, L1151V	Mowat-Wilson syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 46628883.	NM_014795.4(ZEB2):c.3451C>A (p.Leu1151Met) GRCh37: Chr2:145147212 GRCh38: Chr2:144389645	ZEB2	L1151M, L1127M	Mowat-Wilson syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 16032584.	NM_014795.4(ZEB2):c.3444C>T (p.Tyr1148=) GRCh37: Chr2:145147219 GRCh38: Chr2:144389652	ZEB2		not specified, Mowat-Wilson syndrome, not provided	Likely benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 199489485.	NM_014795.4(ZEB2):c.3435G>C (p.Glu1145Asp) GRCh37: Chr2:145147228 GRCh38: Chr2:144389661	ZEB2	E1121D, E1145D	Mowat-Wilson syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 37907286.	NM_014795.4(ZEB2):c.3432C>T (p.Gly1144=) GRCh37: Chr2:145147231 GRCh38: Chr2:144389664	ZEB2		Mowat-Wilson syndrome, not specified, Inborn genetic diseases	Likely benign (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148289387.	NM_014795.4(ZEB2):c.3430G>T (p.Gly1144Cys) GRCh37: Chr2:145147233 GRCh38: Chr2:144389666	ZEB2	G1144C, G1120C	Mowat-Wilson syndrome	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 94659688.	NM_014795.4(ZEB2):c.3430G>A (p.Gly1144Ser) GRCh37: Chr2:145147233 GRCh38: Chr2:144389666	ZEB2	G1120S, G1144S	Mowat-Wilson syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 115776589.	NM_014795.4(ZEB2):c.3420C>T (p.His1140=) GRCh37: Chr2:145147243 GRCh38: Chr2:144389676	ZEB2		Mowat-Wilson syndrome	Likely benign (Mar 2, 2021)	criteria provided, single submitter
Select item 18174890.	NM_014795.4(ZEB2):c.3409G>A (p.Glu1137Lys) GRCh37: Chr2:145147254 GRCh38: Chr2:144389687	ZEB2	E1137K, E1113K	not provided, Mowat-Wilson syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40533391.	NM_014795.4(ZEB2):c.3408C>G (p.Ser1136Arg) GRCh37: Chr2:145147255 GRCh38: Chr2:144389688	ZEB2	S1136R, S1112R	Mowat-Wilson syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 101893392.	NM_014795.4(ZEB2):c.3400G>A (p.Gly1134Ser) GRCh37: Chr2:145147263 GRCh38: Chr2:144389696	ZEB2	G1110S, G1134S	Mowat-Wilson syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 18928293.	NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) GRCh37: Chr2:145147263-145147272 GRCh38: Chr2:144389696-144389705	ZEB2	P1131fs, P1107fs	Mowat-Wilson syndrome	Pathogenic (Mar 2, 2015)	no assertion criteria provided
Select item 192745694.	NM_014795.4(ZEB2):c.3384G>A (p.Glu1128_Ser1129=) GRCh37: Chr2:145147279 GRCh38: Chr2:144389712	ZEB2		Mowat-Wilson syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 109260795.	NM_014795.4(ZEB2):c.3384G>C (p.Glu1128Asp) GRCh37: Chr2:145147279 GRCh38: Chr2:144389712	ZEB2	E1104D, E1128D	Mowat-Wilson syndrome	Likely benign (Oct 6, 2020)	criteria provided, single submitter
Select item 161293696.	NM_014795.4(ZEB2):c.3378G>A (p.Glu1126=) GRCh37: Chr2:145147285 GRCh38: Chr2:144389718	ZEB2		Mowat-Wilson syndrome	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 159398597.	NM_014795.4(ZEB2):c.3375G>A (p.Glu1125=) GRCh37: Chr2:145147288 GRCh38: Chr2:144389721	ZEB2		Mowat-Wilson syndrome	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 241298398.	NM_014795.4(ZEB2):c.3365C>G (p.Ser1122Cys) GRCh37: Chr2:145147298 GRCh38: Chr2:144389731	ZEB2	S1098C, S1122C	not provided	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 9563599.	NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) GRCh37: Chr2:145147299-145147304 GRCh38: Chr2:144389732-144389737	ZEB2	G1096fs, G1120fs	not provided	Pathogenic (Feb 25, 2013)	criteria provided, single submitter
Select item 1582185100.	NM_014795.4(ZEB2):c.3363C>T (p.Tyr1121=) GRCh37: Chr2:145147300 GRCh38: Chr2:144389733	ZEB2		Mowat-Wilson syndrome	Likely benign (Nov 23, 2020)	criteria provided, single submitter

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