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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Facies (D019066)
Parent Node: Hirschsprung Disease (D006627)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
..Starting node ..Mowat-Wilson syndrome (C536990)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247)
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..Baraitser Brett Piesowicz syndrome (C537905)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bixler Christian Gorlin syndrome (C537632)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Branchial arch syndrome X-linked (C537102)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAMFAK syndrome (C537965)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CK SYNDROME (OMIM:300831)
..Cohen syndrome (C536438)
..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Dubowitz syndrome (C535718)
..Ellis Yale Winter syndrome (C536205)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Filippi syndrome (C538152)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..GOMBO syndrome (C537284)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Jorgenson Lenz syndrome (C536292)
..Kaufman oculocerebrofacial syndrome (C537013)
..Lambotte syndrome (C537549)
..Lissencephaly 3 (C566908)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..MEHMO syndrome (C537451)
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly autosomal dominant (C537323)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly nonsyndromal (C537542)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly with Simplified Gyral Pattern (C566332)
..Microcephaly with spastic quadriplegia (C537546)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..Microcephaly-Micromelia Syndrome (C565382)
..Microhydranencephaly (C537555)
..Microphthalmia and mental deficiency (C537462)
..Milner Khallouf Gibson syndrome (C537473)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Neu Laxova syndrome (C536405)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oculopalatocerebral Syndrome (C564935)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Paine syndrome (C538101)
..Partington Anderson syndrome (C536299)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..Porencephaly (D065708) 1
..Raine syndrome (C535282)
..RAJAB SYNDROME (OMIM:613658)
..Sammartino De Crecchio Syndrome (C537229)
..Say Barber Miller syndrome (C536618)
..Say syndrome (C536621)
..Schimke X-linked mental retardation syndrome (C536630)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Seemanova Lesny syndrome (C537536)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Teebi Kaurah syndrome (C536948)
..Trichodental syndrome (C536551)
..Tsukahara Syndrome (C566376)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Winship Viljoen Leary syndrome (C536711)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7406

Name:

Mowat-Wilson syndrome

Definition:

Alternative IDs:

OMIM:235730

ParentIDs:

MESH:D006627|MESH:D008607|MESH:D008831|MESH:D019066

TreeNumbers:

C05.660.207.620/C536990 |C06.198.439/C536990 |C06.405.469.158.701.439/C536990 |C10.500.507.400.500/C536990 |C10.597.606.643/C536990 |C16.131.314.439/C536990 |C16.131.621.207.620/C536990 |C16.131.666.507.400.500/C536990 |C23.550.291.812/C536990 |C23.888.592.604.64

Synonyms:

Hirschsprung disease mental retardation syndrome |Hirschsprung Disease-Mental Retardation Syndrome |Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease |MOWS

Slim Mappings:

Reference:

MedGen: C536990
MeSH: C536990
OMIM: 235730;

Genes: ZEB2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003270	Abdominal distention
3	HP:0001344	Absent speech
4	HP:0002251	Aganglionic megacolon	HP:0040284
5	HP:0001274	Agenesis of corpus callosum	HP:0040284
6	HP:0001631	Atrial septal defect
7	HP:0000048	Bifid scrotum	HP:0040284
8	HP:0011229	Broad eyebrow
9	HP:0000175	Cleft palate	HP:0040284
10	HP:0002019	Constipation	HP:0040284
11	HP:0000028	Cryptorchidism	HP:0040284
12	HP:0000378	Cupped ear
13	HP:0000490	Deeply set eye
14	HP:0000684	Delayed eruption of teeth
15	HP:0000750	Delayed speech and language development	HP:0040284
16	HP:0000494	Downslanted palpebral fissures
17	HP:0002307	Drooling
18	HP:0000565	Esotropia
19	HP:0001290	Generalized hypotonia
20	HP:0003720	Generalized muscle hypertrophy
21	HP:0040082	Happy demeanor
22	HP:0000316	Hypertelorism
23	HP:0002079	Hypoplasia of the corpus callosum
24	HP:0000047	Hypospadias	HP:0040284
25	HP:0001252	Hypotonia	HP:0040284
26	HP:0010864	Intellectual disability, severe	HP:0040284
27	HP:0000612	Iris coloboma
28	HP:0009748	Large earlobe
29	HP:0009765	Low hanging columella	HP:0040284
30	HP:0000252	Microcephaly	HP:0040284
31	HP:0001270	Motor delay
32	HP:0001643	Patent ductus arteriosus
33	HP:0000768	Pectus carinatum
34	HP:0000767	Pectus excavatum
35	HP:0000307	Pointed chin
36	HP:0005274	Prominent nasal tip
37	HP:0000508	Ptosis
38	HP:0004961	Pulmonary artery sling	HP:0040284
39	HP:0004415	Pulmonary artery stenosis
40	HP:0001642	Pulmonic stenosis
41	HP:0001250	Seizure	HP:0040284
42	HP:0004322	Short stature	HP:0040284
43	HP:0000176	Submucous cleft hard palate
44	HP:0002558	Supernumerary nipple
45	HP:0000692	Tooth malposition
46	HP:0009909	Uplifted earlobe
47	HP:0001629	Ventricular septal defect
48	HP:0002013	Vomiting
49	HP:0000431	Wide nasal bridge
50	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_014795.3(ZEB2):c.3566_3567dupCC (p.Met1190Profs)	9839	ZEB2	Pathogenic	587776609	RCV000005029;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147096	145147097	NM_014795.3:c.3566_3567dupCC	NP_055610.1:p.Met1190Profs		OMIM Allelic Variant:605802.0010	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3533delC (p.Thr1178Argfs)	9839	ZEB2	Pathogenic	727504223	RCV000154151;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147130	145147130	NM_014795.3:c.3533delC	NP_055610.1:p.Thr1178Argfs	NC_000002.11:g.145147130delG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3499delA (p.Ser1167Valfs)	9839	ZEB2	Pathogenic	730881218	RCV000159503;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147164	145147164	NM_014795.3:c.3499delA	NP_055610.1:p.Ser1167Valfs	NC_000002.11:g.145147164delT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3444C>T (p.Tyr1148=)	9839	ZEB2	Uncertain significance	374141392	RCV000148001;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147219	145147219	NM_014795.3:c.3444C>T	NP_055610.1:p.Tyr1148=	NC_000002.11:g.145147219G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3391_3400delCCGAGGGATG (p.Pro1131Alafs)	9839	ZEB2	Pathogenic	786204816	RCV000169716;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147263	145147272	NM_014795.3:c.3391_3400delCCGAGGGATG	NP_055610.1:p.Pro1131Alafs	NC_000002.11:g.145147263_145147272delCATCCCTCGG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3359_3364delGGTACTinsTAATG (p.Gly1120Valfs)	9839	ZEB2	Pathogenic	398124280	RCV000081669;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147299	145147304	NM_014795.3:c.3359_3364delGGTACTinsTAATG	NP_055610.1:p.Gly1120Valfs	NC_000002.11:g.145147299_145147304delAGTACCinsCATTA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3356A>G (p.Gln1119Arg)	9839	ZEB2	Pathogenic	137852983	RCV000005034;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147307	145147307	NM_014795.3:c.3356A>G	NP_055610.1:p.Gln1119Arg	NC_000002.11:g.145147307T>C	OMIM Allelic Variant:605802.0015	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3211T>C (p.Ser1071Pro)	9839	ZEB2	Pathogenic;Uncertain significance	397515448	RCV000050218;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147452	145147452	NM_014795.3:c.3211T>C	NP_055610.1:p.Ser1071Pro	NC_000002.11:g.145147452A>G	OMIM Allelic Variant:605802.0016	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3195dupA (p.His1066Thrfs)	9839	ZEB2	Pathogenic	730881213	RCV000159496;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147468	145147468	NM_014795.3:c.3195dupA	NP_055610.1:p.His1066Thrfs	NC_000002.11:g.145147468dupT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3141G>C (p.Arg1047Ser)	9839	ZEB2	Uncertain significance	587784567	RCV000148000;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147522	145147522	NM_014795.3:c.3141G>C	NP_055610.1:p.Arg1047Ser	NC_000002.11:g.145147522C>G	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3137C>A (p.Ser1046Ter)	9839	ZEB2	Pathogenic	797046121	RCV000194868;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147526	145147526	NM_014795.3:c.3137C>A	NP_055610.1:p.Ser1046Ter	NC_000002.11:g.145147526G>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3134A>G (p.His1045Arg)	9839	ZEB2	Pathogenic	397515449	RCV000050219;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147529	145147529	NM_014795.3:c.3134A>G	NP_055610.1:p.His1045Arg	NC_000002.11:g.145147529T>C	OMIM Allelic Variant:605802.0017	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3086G>A (p.Cys1029Tyr)	9839	ZEB2	Likely pathogenic	730881216	RCV000159500;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147577	145147577	NM_014795.3:c.3086G>A	NP_055610.1:p.Cys1029Tyr	NC_000002.11:g.145147577C>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3073delA (p.Arg1025Aspfs)	9839	ZEB2	Pathogenic	730881217	RCV000159502;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145147590	145147590	NM_014795.3:c.3073delA	NP_055610.1:p.Arg1025Aspfs	NC_000002.11:g.145147590delT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.3067+6A>T	9839	ZEB2	Benign;Likely benign	143450927	RCV000147999; RCV000081667;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374	2	145153973	145153973	NM_014795.3:c.3067+6A>T		NC_000002.11:g.145153973T>A	-	C1856113 235730 Mowat-Wilson syndrome; CN169374 not specified
NM_014795.3(ZEB2):c.3002delG (p.Cys1001Leufs)	9839	ZEB2	Pathogenic	730881212	RCV000159495;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145154044	145154044	NM_014795.3:c.3002delG	NP_055610.1:p.Cys1001Leufs	NC_000002.11:g.145154044delC	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2932G>T (p.Asp978Tyr)	9839	ZEB2	Likely pathogenic	863224942	RCV000198384;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145154114	145154114	NM_014795.3:c.2932G>T	NP_055610.1:p.Asp978Tyr	NC_000002.11:g.145154114C>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2894T>A (p.Leu965Ter)	9839	ZEB2	Pathogenic	797046120	RCV000193459;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145154152	145154152	NM_014795.3:c.2894T>A	NP_055610.1:p.Leu965Ter	NC_000002.11:g.145154152A>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2870G>A (p.Arg957Gln)	9839	ZEB2	Likely benign;Uncertain significance	371509136	RCV000159484; RCV000167559;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN221809	2	145155884	145155884	NM_014795.3:c.2870G>A	NP_055610.1:p.Arg957Gln	NC_000002.11:g.145155884C>T	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided
NM_014795.3(ZEB2):c.2761C>T (p.Arg921Ter)	9839	ZEB2	Pathogenic	587784566	RCV000147998; RCV000213083;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN221809	2	145155993	145155993	NM_014795.3:c.2761C>T	NP_055610.1:p.Arg921Ter	NC_000002.11:g.145155993G>A	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided
NM_014795.3(ZEB2):c.2701C>T (p.Gln901Ter)	9839	ZEB2	Pathogenic	794727924	RCV000180325;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156053	145156053	NM_014795.3:c.2701C>T	NP_055610.1:p.Gln901Ter	NC_000002.11:g.145156053G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2687_2688dupCA (p.Ala897Glnfs)	9839	ZEB2	Pathogenic	786204804	RCV000169699;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156066	145156067	NM_014795.3:c.2687_2688dupCA	NP_055610.1:p.Ala897Glnfs	NC_000002.11:g.145156066_145156067dupTG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2555C>G (p.Ser852Ter)	9839	ZEB2	Pathogenic	137852982	RCV000005028;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156199	145156199	NM_014795.3:c.2555C>G	NP_055610.1:p.Ser852Ter	NC_000002.11:g.145156199G>C	OMIM Allelic Variant:605802.0009	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2549C>T (p.Ser850Phe)	9839	ZEB2	Uncertain significance	529220318	RCV000159499;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156205	145156205	NM_014795.3:c.2549C>T	NP_055610.1:p.Ser850Phe	NC_000002.11:g.145156205G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2501delA (p.Lys834Argfs)	9839	ZEB2	Pathogenic	587784565	RCV000147997;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156253	145156253	NM_014795.3:c.2501delA	NP_055610.1:p.Lys834Argfs	NC_000002.11:g.145156253delT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2453dupT (p.Leu818Phefs)	9839	ZEB2	Pathogenic	587776606	RCV000005025;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156301	145156301	NM_014795.3:c.2453dupT	NP_055610.1:p.Leu818Phefs		OMIM Allelic Variant:605802.0006	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2404_2407delACTC (p.Thr802Glnfs)	9839	ZEB2	Pathogenic	797046119	RCV000192418;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156347	145156350	NM_014795.3:c.2404_2407delACTC	NP_055610.1:p.Thr802Glnfs	NC_000002.11:g.145156347_145156350delGAGT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2352T>C (p.Ser784=)	9839	ZEB2	Uncertain significance	201990887	RCV000147996;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156402	145156402	NM_014795.3:c.2352T>C	NP_055610.1:p.Ser784=	NC_000002.11:g.145156402A>G	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2329C>T (p.His777Tyr)	9839	ZEB2	Uncertain significance	587784564	RCV000147995;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156425	145156425	NM_014795.3:c.2329C>T	NP_055610.1:p.His777Tyr	NC_000002.11:g.145156425G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2230A>G (p.Ile744Val)	9839	ZEB2	Benign;Likely benign;Uncertain significance	112005830	RCV000147994; RCV000081664;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374	2	145156524	145156524	NM_014795.3:c.2230A>G	NP_055610.1:p.Ile744Val	NC_000002.11:g.145156524T>C	-	C1856113 235730 Mowat-Wilson syndrome; CN169374 not specified
NM_014795.3(ZEB2):c.2228_2229delCT (p.Ser743Tyrfs)	9839	ZEB2	Pathogenic	730881211	RCV000159494;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156525	145156526	NM_014795.3:c.2228_2229delCT	NP_055610.1:p.Ser743Tyrfs	NC_000002.11:g.145156525_145156526delAG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2215A>G (p.Ile739Val)	9839	ZEB2	Likely benign	730881178	RCV000159453;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156539	145156539	NM_014795.3:c.2215A>G	NP_055610.1:p.Ile739Val	NC_000002.11:g.145156539T>C	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2203C>T (p.Pro735Ser)	9839	ZEB2	Likely benign;Uncertain significance	144154908	RCV000159451; RCV000081663; RCV000194397;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374; MedGen:CN221809	2	145156551	145156551	NM_014795.3:c.2203C>T	NP_055610.1:p.Pro735Ser	NC_000002.11:g.145156551G>A	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided; CN169374 not specified
NM_014795.3(ZEB2):c.2179_2180delTT (p.Leu727Ilefs)	9839	ZEB2	Pathogenic	786204810	RCV000169709;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156574	145156575	NM_014795.3:c.2179_2180delTT	NP_055610.1:p.Leu727Ilefs	NC_000002.11:g.145156574_145156575delAA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2177_2180delCTTT (p.Ser726Tyrfs)	9839	ZEB2	Pathogenic	786204821	RCV000169722;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156574	145156577	NM_014795.3:c.2177_2180delCTTT	NP_055610.1:p.Ser726Tyrfs	NC_000002.11:g.145156574_145156577delAAAG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2180delT (p.Leu727Tyrfs)	9839	ZEB2	Likely pathogenic	863224943	RCV000200598;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156574	145156574	NM_014795.3:c.2180delT	NP_055610.1:p.Leu727Tyrfs	NC_000002.11:g.145156574delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2174_2177dupACTC (p.Leu728Phefs)	9839	ZEB2	Pathogenic	398124278	RCV000081662;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156577	145156580	NM_014795.3:c.2174_2177dupACTC	NP_055610.1:p.Leu728Phefs	NC_000002.11:g.145156577_145156580dupGAGT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2083C>T (p.Arg695Ter)	9839	ZEB2	Pathogenic	137852981	RCV000005021; RCV000213082;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN221809	2	145156671	145156671	NM_014795.3:c.2083C>T	NP_055610.1:p.Arg695Ter	NC_000002.11:g.145156671G>A	HGMD:CM013801,OMIM Allelic Variant:605802.0002	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided
NM_014795.3(ZEB2):c.2061delT (p.Phe687Leufs)	9839	ZEB2	Pathogenic	797046118	RCV000192455;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156693	145156693	NM_014795.3:c.2061delT	NP_055610.1:p.Phe687Leufs	NC_000002.11:g.145156693delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.2032delT (p.Ser678Profs)	9839	ZEB2	Pathogenic	398124277	RCV000081659;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156722	145156722	NM_014795.3:c.2032delT	NP_055610.1:p.Ser678Profs	NC_000002.11:g.145156722delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1966_1967delAT (p.Met656Valfs)	9839	ZEB2	Pathogenic	786204818	RCV000169719;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156787	145156788	NM_014795.3:c.1966_1967delAT	NP_055610.1:p.Met656Valfs	NC_000002.11:g.145156787_145156788delAT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1956C>T (p.Tyr652=)	9839	ZEB2	Pathogenic	587784563	RCV000147993;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156798	145156798	NM_014795.3:c.1956C>T	NP_055610.1:p.Tyr652=	NC_000002.11:g.145156798G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1944delC (p.Ile649Serfs)	9839	ZEB2	Pathogenic	786204803	RCV000169698;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156810	145156810	NM_014795.3:c.1944delC	NP_055610.1:p.Ile649Serfs	NC_000002.11:g.145156810delG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1921delT (p.Ser641Leufs)	9839	ZEB2	Pathogenic	730881209	RCV000159493;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156833	145156833	NM_014795.3:c.1921delT	NP_055610.1:p.Ser641Leufs	NC_000002.11:g.145156833delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1892delA (p.Asn631Ilefs)	9839	ZEB2	Pathogenic	587776607	RCV000005026;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156862	145156862	NM_014795.3:c.1892delA	NP_055610.1:p.Asn631Ilefs		OMIM Allelic Variant:605802.0007	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1884delT (p.Phe628Leufs)	9839	ZEB2	Pathogenic	786204811	RCV000169710;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156870	145156870	NM_014795.3:c.1884delT	NP_055610.1:p.Phe628Leufs	NC_000002.11:g.145156870delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1876G>T (p.Gly626Ter)	9839	ZEB2	Pathogenic	727504224	RCV000154154;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156878	145156878	NM_014795.3:c.1876G>T	NP_055610.1:p.Gly626Ter	NC_000002.11:g.145156878C>A,NC_000002.11:g.145156878C>T	HGMD:CM097142	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1862delT (p.Val621Alafs)	9839	ZEB2	Pathogenic	587776611	RCV000005032;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145156892	145156892	NM_014795.3:c.1862delT	NP_055610.1:p.Val621Alafs		OMIM Allelic Variant:605802.0013	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1754delT (p.Phe585Serfs)	9839	ZEB2	Pathogenic	786204809	RCV000169708;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157000	145157000	NM_014795.3:c.1754delT	NP_055610.1:p.Phe585Serfs	NC_000002.11:g.145157000delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1749C>A (p.Cys583Ter)	9839	ZEB2	Pathogenic	786204808	RCV000169707;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157005	145157005	NM_014795.3:c.1749C>A	NP_055610.1:p.Cys583Ter	NC_000002.11:g.145157005G>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1735A>G (p.Thr579Ala)	9839	ZEB2	Uncertain significance	140593583	RCV000159475;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157019	145157019	NM_014795.3:c.1735A>G	NP_055610.1:p.Thr579Ala	NC_000002.11:g.145157019T>C	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1687delA (p.Ile563Terfs)	9839	ZEB2	Pathogenic	786204819	RCV000169720;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157067	145157067	NM_014795.3:c.1687delA	NP_055610.1:p.Ile563Terfs	NC_000002.11:g.145157067delT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1653delC (p.Ser552Valfs)	9839	ZEB2	Pathogenic	786204820	RCV000169721;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157101	145157101	NM_014795.3:c.1653delC	NP_055610.1:p.Ser552Valfs	NC_000002.11:g.145157101delG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1645A>T (p.Arg549Ter)	9839	ZEB2	Pathogenic	137852980	RCV000005020;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157109	145157109	NM_014795.3:c.1645A>T	NP_055610.1:p.Arg549Ter	NC_000002.11:g.145157109T>A	OMIM Allelic Variant:605802.0001	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1638C>T (p.Asp546=)	9839	ZEB2	Benign;Uncertain significance	149035844	RCV000159448; RCV000194412;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374	2	145157116	145157116	NM_014795.3:c.1638C>T	NP_055610.1:p.Asp546=	NC_000002.11:g.145157116G>A	-	C1856113 235730 Mowat-Wilson syndrome; CN169374 not specified
NM_014795.3(ZEB2):c.1586delC (p.Thr529Serfs)	9839	ZEB2	Pathogenic	398124276	RCV000081657;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157168	145157168	NM_014795.3:c.1586delC	NP_055610.1:p.Thr529Serfs	NC_000002.11:g.145157168delG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1565C>G (p.Thr522Ser)	9839	ZEB2	Uncertain significance	730881193	RCV000159472;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157189	145157189	NM_014795.3:c.1565C>G	NP_055610.1:p.Thr522Ser	NC_000002.11:g.145157189G>C	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1541_1542insA (p.Val515Glyfs)	9839	ZEB2	Pathogenic	398124275	RCV000169704;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157212	145157213	NM_014795.3:c.1541_1542insA	NP_055610.1:p.Val515Glyfs	NC_000002.11:g.145157212_145157213insT,NC_000002.11:g.145157213dupG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1541dupC (p.Val515Glyfs)	9839	ZEB2	Pathogenic	398124275	RCV000081656;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157213	145157213	NM_014795.3:c.1541dupC	NP_055610.1:p.Val515Glyfs	NC_000002.11:g.145157212_145157213insT,NC_000002.11:g.145157213dupG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser)	9839	ZEB2	Benign;Likely benign	144952836	RCV000159447; RCV000167557; RCV000081655;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374; MedGen:CN221809	2	145157274	145157274	NM_014795.3:c.1480C>T	NP_055610.1:p.Pro494Ser	NC_000002.11:g.145157274G>A	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided; CN169374 not specified
NM_014795.3(ZEB2):c.1438G>T (p.Ala480Ser)	9839	ZEB2	Likely benign;Uncertain significance	143854197	RCV000147991;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157316	145157316	NM_014795.3:c.1438G>T	NP_055610.1:p.Ala480Ser	NC_000002.11:g.145157316C>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1426dupA (p.Met476Asnfs)	9839	ZEB2	Pathogenic	587776604	RCV000005023;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157328	145157328	NM_014795.3:c.1426dupA	NP_055610.1:p.Met476Asnfs		OMIM Allelic Variant:605802.0004	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1416_1420delCAGGC (p.Arg473Lysfs)	9839	ZEB2	Pathogenic	786204814	RCV000169714;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157334	145157338	NM_014795.3:c.1416_1420delCAGGC	NP_055610.1:p.Arg473Lysfs	NC_000002.11:g.145157334_145157338delGCCTG	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1410T>A (p.Thr470=)	9839	ZEB2	Benign;Uncertain significance	34890427	RCV000147990; RCV000081654;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374	2	145157344	145157344	NM_014795.3:c.1410T>A	NP_055610.1:p.Thr470=	NC_000002.11:g.145157344A>T	-	C1856113 235730 Mowat-Wilson syndrome; CN169374 not specified
NM_014795.3(ZEB2):c.1381C>T (p.Gln461Ter)	9839	ZEB2	Pathogenic	398124274	RCV000081653;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157373	145157373	NM_014795.3:c.1381C>T	NP_055610.1:p.Gln461Ter	NC_000002.11:g.145157373G>A	HGMD:CM031407	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1306A>G (p.Met436Val)	9839	ZEB2	Uncertain significance	145812868	RCV000159471; RCV000081652;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN221809	2	145157448	145157448	NM_014795.3:c.1306A>G	NP_055610.1:p.Met436Val	NC_000002.11:g.145157448T>C	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided
NM_014795.3(ZEB2):c.1277T>G (p.Leu426Ter)	9839	ZEB2	Pathogenic	786204807	RCV000169706;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157477	145157477	NM_014795.3:c.1277T>G	NP_055610.1:p.Leu426Ter	NC_000002.11:g.145157477A>C	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1257delG (p.Gly421Glufs)	9839	ZEB2	Pathogenic	786204801	RCV000169696;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157497	145157497	NM_014795.3:c.1257delG	NP_055610.1:p.Gly421Glufs	NC_000002.11:g.145157497delC	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1218delA (p.His407Thrfs)	9839	ZEB2	Pathogenic	727504226	RCV000154156;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157536	145157536	NM_014795.3:c.1218delA	NP_055610.1:p.His407Thrfs	NC_000002.11:g.145157536delT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1172_1182delAAACAGAACCAinsTGACTTAAAATTAATG (p.Lys391Metfs)	9839	ZEB2	Pathogenic	786204805	RCV000169700;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157572	145157582	NM_014795.3:c.1172_1182delAAACAGAACCAinsTGACTTAAAATTAATG	NP_055610.1:p.Lys391Metfs	NC_000002.11:g.145157572_145157582delTGGTTCTGTTTinsCATTAATTTTAAGTCA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1173_1176delAACA (p.Thr392Asnfs)	9839	ZEB2	Pathogenic	587776603	RCV000005022;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157578	145157581	NM_014795.3:c.1173_1176delAACA	NP_055610.1:p.Thr392Asnfs		OMIM Allelic Variant:605802.0003	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1106T>A (p.Leu369Ter)	9839	ZEB2	Pathogenic	797046117	RCV000195002;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157648	145157648	NM_014795.3:c.1106T>A	NP_055610.1:p.Leu369Ter	NC_000002.11:g.145157648A>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.1027C>T (p.Arg343Ter)	9839	ZEB2	Pathogenic	786204815	RCV000169715;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157727	145157727	NM_014795.3:c.1027C>T	NP_055610.1:p.Arg343Ter	NC_000002.11:g.145157727G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.997delA (p.Lys333Asnfs)	9839	ZEB2	Pathogenic	730881208	RCV000159491;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157757	145157757	NM_014795.3:c.997delA	NP_055610.1:p.Lys333Asnfs	NC_000002.11:g.145157757delT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.980C>A (p.Ser327Ter)	9839	ZEB2	Pathogenic	756686919	RCV000180324;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157774	145157774	NM_014795.3:c.980C>A	NP_055610.1:p.Ser327Ter	NC_000002.11:g.145157774G>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.930C>A (p.Tyr310Ter)	9839	ZEB2	Pathogenic	6711223	RCV000154157;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145157824	145157824	NM_014795.3:c.930C>A	NP_055610.1:p.Tyr310Ter	NC_000002.11:g.145157824G>A,NC_000002.11:g.145157824G>T	HGMD:CM072133	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.904C>T (p.Arg302Ter)	9839	ZEB2	Pathogenic	587784571	RCV000148007; RCV000167554;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN221809	2	145158778	145158778	NM_014795.3:c.904C>T	NP_055610.1:p.Arg302Ter	NC_000002.11:g.145158778G>A	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided
NM_014795.3(ZEB2):c.823C>T (p.Gln275Ter)	9839	ZEB2	Pathogenic	587784570	RCV000148006;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145158859	145158859	NM_014795.3:c.823C>T	NP_055610.1:p.Gln275Ter	NC_000002.11:g.145158859G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.805C>T (p.Gln269Ter)	9839	ZEB2	Pathogenic	398124284	RCV000081675;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161485	145161485	NM_014795.3:c.805C>T	NP_055610.1:p.Gln269Ter	NC_000002.11:g.145161485G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.782_783delTG (p.Val261Aspfs)	9839	ZEB2	Pathogenic	398124283	RCV000081674;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161507	145161508	NM_014795.3:c.782_783delTG	NP_055610.1:p.Val261Aspfs	NC_000002.11:g.145161507_145161508delCA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.760_761dupAC (p.Gln255Profs)	9839	ZEB2	Pathogenic	587776605	RCV000005024;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161529	145161530	NM_014795.3:c.760_761dupAC	NP_055610.1:p.Gln255Profs		OMIM Allelic Variant:605802.0005	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.747G>A (p.Thr249=)	9839	ZEB2	Uncertain significance	587784569	RCV000148004;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161543	145161543	NM_014795.3:c.747G>A	NP_055610.1:p.Thr249=	NC_000002.11:g.145161543C>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.703delG (p.Glu235Argfs)	9839	ZEB2	Pathogenic	786204806	RCV000169705;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161587	145161587	NM_014795.3:c.703delG	NP_055610.1:p.Glu235Argfs	NC_000002.11:g.145161587delC	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.674C>A (p.Ser225Ter)	9839	ZEB2	Pathogenic	797046122	RCV000192869;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161616	145161616	NM_014795.3:c.674C>A	NP_055610.1:p.Ser225Ter	NC_000002.11:g.145161616G>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.660C>G (p.Tyr220Ter)	9839	ZEB2	Pathogenic	111724246	RCV000169702;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161630	145161630	NM_014795.3:c.660C>G	NP_055610.1:p.Tyr220Ter	NC_000002.11:g.145161630G>C	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.643_659del17 (p.Tyr215Glnfs)	9839	ZEB2	Pathogenic	398124281	RCV000081672;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145161631	145161647	NM_014795.3:c.643_659del17	NP_055610.1:p.Tyr215Glnfs	NC_000002.11:g.145161631_145161647del17	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.550_568del19 (p.Ser184Argfs)	9839	ZEB2	Pathogenic	587784568	RCV000148003;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145162427	145162445	NM_014795.3:c.550_568del19	NP_055610.1:p.Ser184Argfs	NC_000002.11:g.145162427_145162445del19	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.553_554insTG (p.Arg185Leufs)	9839	ZEB2	Pathogenic	587776608	RCV000005027;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145162441	145162442	NM_014795.3:c.553_554insTG	NP_055610.1:p.Arg185Leufs		OMIM Allelic Variant:605802.0008	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.462G>A (p.Glu154=)	9839	ZEB2	Benign;Uncertain significance	372940559	RCV000148002; RCV000178946; RCV000213081;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374; MedGen:CN221809	2	145162533	145162533	NM_014795.3:c.462G>A	NP_055610.1:p.Glu154=	NC_000002.11:g.145162533C>T	-	C1856113 235730 Mowat-Wilson syndrome; CN221809 not provided; CN169374 not specified
NM_014795.3(ZEB2):c.460delG (p.Glu154Argfs)	9839	ZEB2	Pathogenic	786204817	RCV000169717;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145162535	145162535	NM_014795.3:c.460delG	NP_055610.1:p.Glu154Argfs	NC_000002.11:g.145162535delC	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.304dupA (p.Ile102Asnfs)	9839	ZEB2	Pathogenic	786200997	RCV000154159;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145187363	145187363	NM_014795.3:c.304dupA	NP_055610.1:p.Ile102Asnfs	NC_000002.11:g.145187363dupT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.304A>T (p.Ile102Phe)	9839	ZEB2	Likely benign	201109457	RCV000159463; RCV000169711;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152; MedGen:CN169374	2	145187363	145187363	NM_014795.3:c.304A>T	NP_055610.1:p.Ile102Phe	NC_000002.11:g.145187363T>A	-	C1856113 235730 Mowat-Wilson syndrome; CN169374 not specified
NM_014795.3(ZEB2):c.289delT (p.Trp97Glyfs)	9839	ZEB2	Pathogenic	727503784	RCV000157060;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145187378	145187378	NM_014795.3:c.289delT	NP_055610.1:p.Trp97Glyfs	NC_000002.11:g.145187378delA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.280G>T (p.Glu94Ter)	9839	ZEB2	Pathogenic	727504228	RCV000154160;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145187387	145187387	NM_014795.3:c.280G>T	NP_055610.1:p.Glu94Ter	NC_000002.11:g.145187387C>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.227_233delAAGCTCT (p.Gln76Argfs)	9839	ZEB2	Pathogenic	786204812	RCV000169712;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145187434	145187440	NM_014795.3:c.227_233delAAGCTCT	NP_055610.1:p.Gln76Argfs	NC_000002.11:g.145187434_145187440delAGAGCTT	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.178_190delACGAGTCCAGCTAinsGTT (p.Thr60Valfs)	9839	ZEB2	Pathogenic	730881215	RCV000159498;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145187477	145187489	NM_014795.3:c.178_190delACGAGTCCAGCTAinsGTT	NP_055610.1:p.Thr60Valfs	NC_000002.11:g.145187477_145187489delTAGCTGGACTCGTinsAAC	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.82_87delTATGAC (p.Tyr28_Asp29del)	9839	ZEB2	Uncertain significance	730881214	RCV000159497;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145187580	145187585	NM_014795.3:c.82_87delTATGAC	NP_055610.1:p.Tyr28_Asp29del	NC_000002.11:g.145187580_145187585delGTCATA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.73+2T>C	9839	ZEB2	Pathogenic	398124282	RCV000081673;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274843	145274843	NM_014795.3:c.73+2T>C		NC_000002.11:g.145274843A>G	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.73+1delG	9839	ZEB2	Pathogenic	786204813	RCV000169713;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274844	145274844	NM_014795.3:c.73+1delG		NC_000002.11:g.145274844delC	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.59C>T (p.Pro20Leu)	9839	ZEB2	Pathogenic	730881206	RCV000159489;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274859	145274859	NM_014795.3:c.59C>T	NP_055610.1:p.Pro20Leu	NC_000002.11:g.145274859G>A	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.20_21insT (p.Asp8Glyfs)	9839	ZEB2	Pathogenic	786204802	RCV000169697;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274897	145274898	NM_014795.3:c.20_21insT	NP_055610.1:p.Asp8Glyfs	NC_000002.11:g.145274897_145274898insA	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.10C>G (p.Pro4Ala)	9839	ZEB2	Uncertain significance	146394306	RCV000159501;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274908	145274908	NM_014795.3:c.10C>G	NP_055610.1:p.Pro4Ala	NC_000002.11:g.145274908G>C	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.9G>C (p.Gln3His)	9839	ZEB2	Likely benign;Uncertain significance	149882004	RCV000148010;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274909	145274909	NM_014795.3:c.9G>C	NP_055610.1:p.Gln3His	NC_000002.11:g.145274909C>G,NC_000002.11:g.145274909C>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.9G>A (p.Gln3=)	9839	ZEB2	Uncertain significance	149882004	RCV000148009;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274909	145274909	NM_014795.3:c.9G>A	NP_055610.1:p.Gln3=	NC_000002.11:g.145274909C>G,NC_000002.11:g.145274909C>T	-	C1856113 235730 Mowat-Wilson syndrome
NM_014795.3(ZEB2):c.-69-1G>A	9839	ZEB2	Pathogenic	587776612	RCV000005033;	N	MedGen:C1856113,OMIM:235730,ORPHA:2152	2	145274987	145274987	NM_014795.3:c.-69-1G>A		2:g.145274987C>T	OMIM Allelic Variant:605802.0014	C1856113 235730 Mowat-Wilson syndrome