ClinVar for MedGen (Select 341067) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3237167	NM_014795.4(ZEB2):c.3221del (p.Met1074fs)	ZEB2 (M1050fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 3236057	NM_014795.4(ZEB2):c.1985A>G (p.Tyr662Cys)	ZEB2 (Y638C +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
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 3024294	NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)	ZEB2	Indel (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 3022758	NM_014795.4(ZEB2):c.154A>T (p.Ile52Phe)	ZEB2 (I52F)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 3016455	NM_014795.4(ZEB2):c.808-3T>C	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 3015926	NM_014795.4(ZEB2):c.141T>C (p.Ala47=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 3015119	NM_014795.4(ZEB2):c.603T>C (p.Pro201=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 3005501	NM_014795.4(ZEB2):c.74-20G>C	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 3004082	NM_014795.4(ZEB2):c.1553A>G (p.His518Arg)	ZEB2 (H494R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2999863	NM_014795.4(ZEB2):c.1601A>T (p.Asn534Ile)	ZEB2 (N510I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2999767	NM_014795.4(ZEB2):c.212C>T (p.Ser71Phe)	ZEB2 (S71F)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2993414	NM_014795.4(ZEB2):c.1359G>A (p.Met453Ile)	ZEB2 (M429I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2991664	NM_014795.4(ZEB2):c.1868A>G (p.Asn623Ser)	ZEB2 (N599S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2991195	NM_014795.4(ZEB2):c.2495C>T (p.Ala832Val)	ZEB2 (A832V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2990945	NM_014795.4(ZEB2):c.421A>G (p.Thr141Ala)	ZEB2 (T141A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2973394	NM_014795.4(ZEB2):c.2913C>A (p.Asp971Glu)	ZEB2 (D947E +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2972654	NM_014795.4(ZEB2):c.3564C>T (p.His1188=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2971715	NM_014795.4(ZEB2):c.72C>A (p.Asn24Lys)	ZEB2 (N24K)	Single nucleotide variant (missense variant +1 more)	Mowat-Wilson syndrome	GUncertain significance
Select item 2962989	NM_014795.4(ZEB2):c.1875C>A (p.Ala625=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2960982	NM_014795.4(ZEB2):c.1688T>C (p.Ile563Thr)	ZEB2 (I539T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2960633	NM_014795.4(ZEB2):c.2905G>A (p.Ala969Thr)	ZEB2 (A945T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2956731	NM_014795.4(ZEB2):c.3578G>C (p.Ser1193Thr)	ZEB2 (S1193T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2921051	NM_014795.4(ZEB2):c.150C>A (p.Asp50Glu)	ZEB2 (D50E)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2919809	NM_014795.4(ZEB2):c.2926C>T (p.Leu976=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2918346	NM_014795.4(ZEB2):c.1966A>G (p.Met656Val)	ZEB2 (M632V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GBenign
Select item 2914928	NM_014795.4(ZEB2):c.2615C>T (p.Ser872Leu)	ZEB2 (S848L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2914664	NM_014795.4(ZEB2):c.1797T>C (p.His599=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2914100	NM_014795.4(ZEB2):c.1253G>T (p.Gly418Val)	ZEB2 (G394V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2911817	NM_014795.4(ZEB2):c.2221T>C (p.Ser741Pro)	ZEB2 (S717P +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2910070	NM_014795.4(ZEB2):c.2678C>A (p.Pro893His)	ZEB2 (P893H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
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 2899948	NM_014795.4(ZEB2):c.2041G>A (p.Val681Met)	ZEB2 (V657M +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2898231	NM_014795.4(ZEB2):c.2934T>C (p.Asp978=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2898217	NM_014795.4(ZEB2):c.593-9C>G	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2897068	NM_014795.4(ZEB2):c.3350C>T (p.Thr1117Ile)	ZEB2 (T1117I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2893373	NM_014795.4(ZEB2):c.2310A>G (p.Lys770=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2889888	NM_014795.4(ZEB2):c.3299A>G (p.His1100Arg)	ZEB2 (H1100R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2879594	NM_014795.4(ZEB2):c.2793C>T (p.Phe931=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2879375	NM_014795.4(ZEB2):c.821C>T (p.Thr274Ile)	ZEB2 (T250I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2878995	NM_014795.4(ZEB2):c.3478_3480inv (p.Phe1160Glu)	ZEB2 (F1136E +1 more)	Inversion (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2874986	NM_014795.4(ZEB2):c.917-20A>C	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2873762	NM_014795.4(ZEB2):c.2087_2088del (p.Lys696fs)	ZEB2 (K672fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2873187	NM_014795.4(ZEB2):c.1637A>T (p.Asp546Val)	ZEB2 (D522V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GBenign
Select item 2867017	NM_014795.4(ZEB2):c.3584A>C (p.Glu1195Ala)	ZEB2 (E1171A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2866339	NM_014795.4(ZEB2):c.3271G>A (p.Ala1091Thr)	ZEB2 (A1091T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2866175	NM_014795.4(ZEB2):c.2249G>A (p.Ser750Asn)	ZEB2 (S750N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2863150	NM_014795.4(ZEB2):c.799A>T (p.Thr267Ser)	ZEB2 (T243S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2857518	NM_014795.4(ZEB2):c.2553_2555del (p.Ser853del)	ZEB2 (S829del +1 more)	Deletion (inframe_deletion)	Mowat-Wilson syndrome	GUncertain significance
Select item 2855871	NM_014795.4(ZEB2):c.404-10A>G	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2855233	NM_014795.4(ZEB2):c.2556A>T (p.Ser852=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2853967	NM_014795.4(ZEB2):c.1449T>A (p.Ile483=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2852911	NM_014795.4(ZEB2):c.593-27CT[7]	ZEB2	Microsatellite (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2850910	NM_014795.4(ZEB2):c.3342G>C (p.Gln1114His)	ZEB2 (Q1114H +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2850731	NM_014795.4(ZEB2):c.1427T>C (p.Met476Thr)	ZEB2 (M452T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2850271	NM_014795.4(ZEB2):c.2204C>T (p.Pro735Leu)	ZEB2 (P711L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GBenign
Select item 2850009	NM_014795.4(ZEB2):c.2886+10C>T	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2849803	NM_014795.4(ZEB2):c.3119ACC[3] (p.His1041_Leu1042insHis)	ZEB2	Microsatellite (inframe_insertion)	Mowat-Wilson syndrome	GUncertain significance
Select item 2848686	NM_014795.4(ZEB2):c.2160C>A (p.Asn720Lys)	ZEB2 (N696K +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2845212	NM_014795.4(ZEB2):c.1517C>T (p.Pro506Leu)	ZEB2 (P482L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2841578	NM_014795.4(ZEB2):c.924A>G (p.Lys308=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2840301	NM_014795.4(ZEB2):c.3402C>T (p.Gly1134=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2839784	NM_014795.4(ZEB2):c.807+20T>A	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2839019	NM_014795.4(ZEB2):c.11C>G (p.Pro4Arg)	ZEB2 (P4R)	Single nucleotide variant (missense variant +1 more)	Mowat-Wilson syndrome	GUncertain significance
Select item 2837185	NM_014795.4(ZEB2):c.3134A>T (p.His1045Leu)	ZEB2 (H1021L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2835737	NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)	ZEB2 (Y1046* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2834204	NM_014795.4(ZEB2):c.260A>C (p.Glu87Ala)	ZEB2 (E87A)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2832538	NM_014795.4(ZEB2):c.404-4T>C	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2831120	NM_014795.4(ZEB2):c.983A>C (p.His328Pro)	ZEB2 (H304P +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2829154	NM_014795.4(ZEB2):c.333A>G (p.Glu111=)	ZEB2	Single nucleotide variant (synonymous variant +1 more)	Mowat-Wilson syndrome	GUncertain significance
Select item 2828291	NM_014795.4(ZEB2):c.843G>A (p.Lys281=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2828272	NM_014795.4(ZEB2):c.2558C>A (p.Ser853Tyr)	ZEB2 (S853Y +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2827412	NM_014795.4(ZEB2):c.1616G>C (p.Cys539Ser)	ZEB2 (C515S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2825810	NM_014795.4(ZEB2):c.678G>A (p.Leu226=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2824357	NM_014795.4(ZEB2):c.3437_3439dup (p.Asp1146_Gly1147insAsp)	ZEB2	Duplication (inframe_insertion)	Mowat-Wilson syndrome	GLikely benign
Select item 2824121	NM_014795.4(ZEB2):c.198del (p.Asn67fs)	ZEB2 (N67fs)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2820734	NM_014795.4(ZEB2):c.1588T>C (p.Leu530=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2820536	NM_014795.4(ZEB2):c.2764C>G (p.Pro922Ala)	ZEB2 (P898A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2819319	NM_014795.4(ZEB2):c.1968G>A (p.Met656Ile)	ZEB2 (M656I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
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 2817631	NM_014795.4(ZEB2):c.723T>C (p.Phe241=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2817630	NM_014795.4(ZEB2):c.726C>A (p.Ser242=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2817606	NM_014795.4(ZEB2):c.2538T>C (p.His846=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2817604	NM_014795.4(ZEB2):c.2655C>T (p.Ser885=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2817602	NM_014795.4(ZEB2):c.2689G>A (p.Ala897Thr)	ZEB2 (A873T +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2813803	NM_014795.4(ZEB2):c.403+18C>A	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2812552	NM_014795.4(ZEB2):c.73G>C (p.Val25Leu)	ZEB2 (V25L)	Single nucleotide variant (missense variant +1 more)	Mowat-Wilson syndrome	GUncertain significance
Select item 2812325	NM_014795.4(ZEB2):c.2122C>T (p.Leu708=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GLikely benign
Select item 2811739	NM_014795.4(ZEB2):c.1748G>T (p.Cys583Phe)	ZEB2 (C559F +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2810828	NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)	ZEB2 (Q1072fs +1 more)	Insertion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2810082	NM_014795.4(ZEB2):c.2962C>G (p.Arg988Gly)	ZEB2 (R988G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 2809601	NM_014795.4(ZEB2):c.3445G>A (p.Gly1149Arg)	ZEB2 (G1125R +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance

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