MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:5000
Name:Genee-Wiedemann syndrome
Definition:
Alternative IDs:OMIM:263750
ParentIDs:MESH:D000015|MESH:D008342|MESH:D008844|MESH:D017880
TreeNumbers:C05.116.099.370.231.576/C537680 |C05.500.460.457/C537680 |C05.660.207.231.576/C537680 |C05.660.207.540.460.457/C537680 |C05.660.585/C537680 |C07.320.440.457/C537680 |C07.650.500.460.457/C537680 |C11.270.147.750/C537680 |C16.131.077/C537680 |C16.131.621.207.231.57
Synonyms:Genee-Wiedemann acrofacial dysostosis |GENEE-WIEDEMANN SYNDROME |Miller syndrome |POADS |POADS syndrome |Postaxial Acrofacial Dysostosis |Postaxial Acrofacial Dysostosis (POADS) |Postaxial acrofacial dysostosis (POADS) syndrome |Wildervanck-Smith syndrome
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease
Reference: MedGen: C537680
MeSH: C537680
OMIM: 263750;
MSeqDR LSDB:  
Genes: DHODH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001760Abnormality of the foot
3 HP:0000077Abnormality of the kidney
NAMDC:  Abnormality of the kidney
4 HP:0000453Choanal atresia
5 HP:0000175Cleft palate
6 HP:0000204Cleft upper lip
7 HP:0000405Conductive hearing impairment
8 HP:0001374Congenital hip dislocation
9 HP:0000698Conical tooth
10 HP:0000028Cryptorchidism
11 HP:0000378Cupped ear
12 HP:0000494Downslanted palpebral fissures
13 HP:0000656Ectropion
14 HP:0000625Eyelid coloboma
15 HP:0001510Growth delay
NAMDC:  Growth delay
16 HP:0002984Hypoplasia of the radius
17 HP:0003022Hypoplasia of the ulna
18 HP:0000369Low-set ears
19 HP:0000272Malar flattening
20 HP:0000347Micrognathia
21 HP:0000054Micropenis
22 HP:0005211Midgut malrotation
23 HP:0000767Pectus excavatum
24 HP:0008897Postnatal growth retardation
25 HP:0002021Pyloric stenosis
26 HP:0002974Radioulnar synostosis
27 HP:0009778Short thumb
28 HP:0002558Supernumerary nipple
29 HP:0002946Supernumerary vertebrae
30 HP:0001159Syndactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001361.4(DHODH):c.-29A>G1723DHODHLikely benignrs34270657RCV000368784; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204263572042635AG16:g.72042635A>GClinGen:CA8158471C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.14A>G (p.His5Arg)1723DHODHUncertain significance-1RCV001120459; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204267772042677AG16:g.72042677A>G-
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln)1723DHODHBenignrs3213422RCV000116875|RCV000321810; NMedGen:CN169374|MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204268272042682AC16:g.72042682A>CClinGen:CA152569,UniProtKB:Q02127#VAR_022094C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.22-11C>T1723DHODHUncertain significancers770515591RCV000376200; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204593872045938CT16:g.72045938C>TClinGen:CA8158497
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu)1723DHODHUncertain significancers267606765RCV000018293|RCV000386653; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167204598372045983GA16:g.72045983G>AClinGen:CA126898,UniProtKB:Q02127#VAR_062412,OMIM:126064.0003C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.72C>T (p.Phe24=)1723DHODHBenign/Likely benignrs61753576RCV000281647|RCV000888842; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167204599972045999CT16:g.72045999C>TClinGen:CA8158509
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu)1723DHODHUncertain significance-1RCV001115551; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204599972045999CG16:g.72045999C>G-
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr)1723DHODHUncertain significance-1RCV001115552; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204600072046000GA16:g.72046000G>A-
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln)1723DHODHUncertain significancers368395651RCV000336666; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167204608172046081GC16:g.72046081G>CClinGen:CA8158530
NM_001361.5(DHODH):c.294C>T (p.Asp98=)1723DHODHBenign/Likely benignrs61747639RCV000246224|RCV000372598|RCV000906107; NMedGen:CN169374|MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167204843172048431CT16:g.72048431C>TClinGen:CA8158588C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)1723DHODHPathogenic/Likely pathogenicrs201230446RCV000018292|RCV000316778; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167204854072048540CT16:g.72048540C>TClinGen:CA126897,UniProtKB:Q02127#VAR_062413,OMIM:126064.0002C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)1723DHODHUncertain significancers267606766RCV000018294; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205094272050942GA16:g.72050942G>AOMIM:126064.0004,ClinGen:CA126899,UniProtKB:Q02127#VAR_062414C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.457C>A (p.Leu153Ile)1723DHODHBenignrs61741731RCV000351984|RCV000969305; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167205094572050945CA16:g.72050945C>AClinGen:CA8158644
NM_001361.5(DHODH):c.492G>T (p.Gln164His)1723DHODHUncertain significancers768224976RCV000396115; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205098072050980GT16:g.72050980G>TClinGen:CA8158653
NM_001361.5(DHODH):c.498G>A (p.Lys166=)1723DHODHUncertain significance-1RCV001116980; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205098672050986GA16:g.72050986G>A-
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln)1723DHODHUncertain significance-1RCV001116981; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205099372050993AC16:g.72050993A>C-
NM_001361.5(DHODH):c.517+8G>A1723DHODHUncertain significancers758925798RCV000312330; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205101372051013GA16:g.72051013G>AClinGen:CA10648037
NM_001361.5(DHODH):c.518-11G>A1723DHODHUncertain significance-1RCV001116982; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205501272055012GA16:g.72055012G>A-
NM_001361.5(DHODH):c.546G>T (p.Gly182=)1723DHODHUncertain significance-1RCV001116983; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205505172055051GT16:g.72055051G>T-
NM_001361.5(DHODH):c.570C>T (p.Ala190=)1723DHODHUncertain significancers149123373RCV000348001; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205507572055075CT16:g.72055075C>TClinGen:CA8158694
NM_001361.5(DHODH):c.573G>A (p.Ala191=)1723DHODHBenign/Likely benignrs148523165RCV000249129|RCV000390217; NMedGen:CN169374|MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205507872055078GA16:g.72055078G>AClinGen:CA8158697C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)1723DHODHPathogenicrs267606769RCV000018299; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205510072055100CT16:g.72055100C>TUniProtKB:Q02127#VAR_062415,OMIM:126064.0009,ClinGen:CA126903C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)1723DHODHPathogenicrs267606767RCV000018295; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205511072055110GC16:g.72055110G>CClinGen:CA126900,UniProtKB:Q02127#VAR_062416,OMIM:126064.0005C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)1723DHODHPathogenicrs267606767RCV000018296; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205511072055110GA16:g.72055110G>AClinGen:CA126901,UniProtKB:Q02127#VAR_062417,OMIM:126064.0006C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.606C>T (p.Gly202=)1723DHODHUncertain significance-1RCV001120250; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205511172055111CT16:g.72055111C>T-
NM_001361.5(DHODH):c.611del (p.Leu204fs)1723DHODHPathogenicrs1215488320RCV000018298; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205511672055116CTC16:g.72055116_72055116delOMIM:126064.0008C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg)1723DHODHUncertain significancers369556950RCV000308391; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205516072055160GA16:g.72055160G>AClinGen:CA8158716
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg)1723DHODHUncertain significancers528598713RCV000363081; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205517172055171CG16:g.72055171C>GClinGen:CA10644190
NM_001361.5(DHODH):c.681C>T (p.Ala227=)1723DHODHUncertain significancers776932166RCV000268177; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205518672055186CT16:g.72055186C>TClinGen:CA8158721
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys)1723DHODHUncertain significancers201202896RCV000304566; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205518772055187GA16:g.72055187G>AClinGen:CA8158722
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)1723DHODHPathogenicrs267606768RCV000018297; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205628572056285CT16:g.72056285C>TClinGen:CA126902,UniProtKB:Q02127#VAR_062418,OMIM:126064.0007C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.753C>A (p.Val251=)1723DHODHConflicting interpretations of pathogenicityrs373893426RCV000359291|RCV000977892; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167205630872056308CA16:g.72056308C>AClinGen:CA8158752
NM_001361.5(DHODH):c.765C>T (p.Ile255=)1723DHODHLikely benignrs61757214RCV000891618|RCV001120251; NMedGen:CN517202|MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205632072056320CT16:g.72056320C>T-
NM_001361.5(DHODH):c.804C>T (p.Ala268=)1723DHODHUncertain significancers374538940RCV000264574|RCV000996306; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167205635972056359CT16:g.72056359C>TClinGen:CA8158761C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg)1723DHODHUncertain significancers886052277RCV000320171; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205636272056362TA16:g.72056362T>AClinGen:CA10644197
NM_001361.5(DHODH):c.819+10G>A1723DHODHBenignrs114267707RCV000374829|RCV000947715; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246|MedGen:CN517202167205638472056384GA16:g.72056384G>AClinGen:CA8158765
NM_001361.5(DHODH):c.820T>C (p.Leu274=)1723DHODHUncertain significancers886052278RCV000261533; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205706472057064TC16:g.72057064T>CClinGen:CA10644200
NM_001361.5(DHODH):c.869C>T (p.Ala290Val)1723DHODHUncertain significancers199626701RCV000316708; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205711372057113CT16:g.72057113C>TClinGen:CA8158793
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp)1723DHODHUncertain significancers369181023RCV000389707; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205712572057125GA16:g.72057125G>AClinGen:CA8158796
NM_001361.5(DHODH):c.890G>A (p.Arg297His)1723DHODHUncertain significancers200181357RCV000295409; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205713472057134GA16:g.72057134G>AClinGen:CA8158799C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp)1723DHODHUncertain significancers192923495RCV000331720; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205719372057193CT16:g.72057193C>TClinGen:CA8158807
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys)1723DHODHUncertain significancers886052279RCV000291096; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205720372057203AG16:g.72057203A>GClinGen:CA10638299
NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser)1723DHODHUncertain significancers886052279RCV000386290; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205720372057203AC16:g.72057203A>CClinGen:CA10648903
NM_001361.5(DHODH):c.973+11C>T1723DHODHUncertain significance-1RCV001115642; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205722872057228CT16:g.72057228C>T-
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)1723DHODHBenign-1RCV001115643; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205738272057382CT16:g.72057382C>T-
NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys)1723DHODHUncertain significancers376142632RCV000345987; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205740872057408AT16:g.72057408A>TClinGen:CA8158835
NM_001361.5(DHODH):c.1020C>T (p.Asp340=)1723DHODHConflicting interpretations of pathogenicityrs199666119RCV000948440|RCV001115644; NMedGen:CN517202|MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205741972057419CT16:g.72057419C>T-
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)1723DHODHBenignrs61733129RCV000116874|RCV000394797; NMedGen:CN169374|MONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205742172057421CT16:g.72057421C>TClinGen:CA152567C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)1723DHODHPathogenicrs201947120RCV000018291; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205743572057435CT16:g.72057435C>TClinGen:CA126896,UniProtKB:Q02127#VAR_062420,OMIM:126064.0001C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala)1723DHODHUncertain significance-1RCV001115645; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205744272057442GC16:g.72057442G>C-
NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala)1723DHODHUncertain significance-1RCV001117069; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205744772057447TG16:g.72057447T>G-
NM_001361.5(DHODH):c.*14C>T1723DHODHLikely benignrs370049658RCV000287502; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205811272058112CT16:g.72058112C>TClinGen:CA8158895
NM_001361.5(DHODH):c.*64C>G1723DHODHUncertain significancers886052280RCV000342652; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205816272058162CG16:g.72058162C>GClinGen:CA10648043
NM_001361.5(DHODH):c.*139C>T1723DHODHLikely benignrs140263128RCV000398327; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205823772058237CT16:g.72058237C>TClinGen:CA10638309
NM_001361.5(DHODH):c.*144G>A1723DHODHUncertain significance-1RCV001117070; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205824272058242GA16:g.72058242G>A-
NM_001361.5(DHODH):c.*189C>T1723DHODHUncertain significancers750442401RCV000302992; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205828772058287CT16:g.72058287C>TClinGen:CA10648907
NM_001361.5(DHODH):c.*216G>A1723DHODHUncertain significance-1RCV001117071; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205831472058314GA16:g.72058314G>A-
NM_001361.5(DHODH):c.*252C>T1723DHODHLikely benignrs147792232RCV000357752; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205835072058350CT16:g.72058350C>TClinGen:CA10638315C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.*341C>T1723DHODHUncertain significance-1RCV001118701; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205843972058439CT16:g.72058439C>T-
NM_001361.5(DHODH):c.*349A>C1723DHODHUncertain significance-1RCV001118702; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205844772058447AC16:g.72058447A>C-
NM_001361.5(DHODH):c.*372C>T1723DHODHUncertain significance-1RCV001118703; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205847072058470CT16:g.72058470C>T-
NM_001361.5(DHODH):c.*383G>A1723DHODHUncertain significance-1RCV001118704; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205848172058481GA16:g.72058481G>A-
NM_001361.5(DHODH):c.*404G>A1723DHODHBenignrs150155845RCV000402335; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205850272058502GA16:g.72058502G>AClinGen:CA10644203C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.*500G>A1723DHODHUncertain significancers886052281RCV000299551; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205859872058598GA16:g.72058598G>AClinGen:CA10648045C0265257 263750 Miller syndrome;
NM_001361.5(DHODH):c.*569G>A1723DHODHBenignrs113365769RCV000354439; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205866772058667GA16:g.72058667G>AClinGen:CA10648046
NM_001361.5(DHODH):c.*574G>T1723DHODHBenignrs2288001RCV000259960; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205867272058672GT16:g.72058672G>TClinGen:CA10644204
NM_001361.5(DHODH):c.*595C>T1723DHODHBenignrs111810095RCV000333849; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205869372058693CT16:g.72058693C>TClinGen:CA10644205
NM_001361.5(DHODH):c.*612T>C1723DHODHBenignrs7191724RCV000369769; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205871072058710TC16:g.72058710T>CClinGen:CA10648910
NM_001361.5(DHODH):c.*645T>C1723DHODHUncertain significance-1RCV001120649; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205874372058743TC16:g.72058743T>C-
NM_001361.5(DHODH):c.*748C>T1723DHODHBenignrs117655998RCV000275116; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205884672058846CT16:g.72058846C>TClinGen:CA10644206
NM_001361.5(DHODH):c.*783A>G1723DHODHBenignrs2288000RCV000330213; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205888172058881AG16:g.72058881A>GClinGen:CA10638320
NM_001361.5(DHODH):c.*795C>T1723DHODHUncertain significance-1RCV001120650; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205889372058893CT16:g.72058893C>T-
NM_001361.5(DHODH):c.*819A>G1723DHODHUncertain significancers886052282RCV000383523; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205891772058917AG16:g.72058917A>GClinGen:CA10648914
NM_001361.5(DHODH):c.*841G>A1723DHODHUncertain significancers764720601RCV000289042; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205893972058939GA16:g.72058939G>AClinGen:CA10644210
NM_001361.5(DHODH):c.*868A>G1723DHODHLikely benign-1RCV001115733; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205896672058966AG16:g.72058966A>G-
NM_001361.5(DHODH):c.*936T>C1723DHODHUncertain significance-1RCV001115734; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205903472059034TC16:g.72059034T>C-
NM_001361.5(DHODH):c.*980A>G1723DHODHUncertain significancers766237954RCV000325448; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205907872059078AG16:g.72059078A>GClinGen:CA10648048
NM_001361.5(DHODH):c.*1014C>T1723DHODHBenignrs79926352RCV000380070; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205911272059112CT16:g.72059112C>TClinGen:CA10648916
NM_001361.5(DHODH):c.*1035_*1038del1723DHODHUncertain significancers886052283RCV000285392; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205913172059134CCTTTC16:g.72059131_72059134delClinGen:CA10638321
NM_001361.5(DHODH):c.*1051A>G1723DHODHBenignrs2287999RCV000340401; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205914972059149AG16:g.72059149A>GClinGen:CA10644211
NM_001361.5(DHODH):c.*1088T>C1723DHODHLikely benignrs567852382RCV000399030; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205918672059186TC16:g.72059186T>CClinGen:CA10644213
NM_001361.5(DHODH):c.*1171T>C1723DHODHBenignrs2287998RCV000282035; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205926972059269TC16:g.72059269T>CClinGen:CA10644214
NM_001361.5(DHODH):c.*1174T>G1723DHODHLikely benignrs148338434RCV000336735; NMONDO:MONDO:0009903,MedGen:C0265257,OMIM:263750, Orphanet:246167205927272059272TG16:g.72059272T>GClinGen:CA10638327C0265257 263750 Miller syndrome;
MSeqDR Portal