Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | 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 | | |