MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Mental Retardation, X-Linked (D038901)
..Starting node
..expand
Mental Retardation, X-Linked, Syndromic 14 (C567063)

       Child Nodes:



 Sister Nodes: 
..expandAbidi X-linked mental retardation syndrome (C535556)
..expandAdrenoleukodystrophy (D000326) Child4
..expandAldred syndrome (C537046)
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandArena syndrome (C537428)
..expandArmfield X-Linked Mental Retardation Syndrome (C564551)
..expandAtkin syndrome (C538195)
..expandATR-X syndrome (C538258)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandBrooks-Wisniewski-Brown Syndrome (C563154)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCK SYNDROME (OMIM:300831)
..expandClark-Baraitser syndrome (C536208)
..expandClassical Lissencephalies and Subcortical Band Heterotopias (D054221) Child5
..expandCoffin-Lowry Syndrome (D038921)
..expandCowchock syndrome (C536450)
..expandCreatine deficiency, X-linked (C535598)
..expandEncephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..expandFaciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..expandFragile X Syndrome (D005600) Child3
..expandGlycogen Storage Disease Type IIb (D052120)
..expandLesch-Nyhan Syndrome (D007926) Child1
..expandLubs X-linked mental retardation syndrome (C537723)
..expandLujan Fryns syndrome (C537724)
..expandMEHMO syndrome (C537451)
..expandMenkes Kinky Hair Syndrome (D007706) Child1
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..expandMental retardation X-linked syndromic 7 (C537449)
..expandMental retardation X-linked, South African type (C537450)
..expandMental Retardation, X-Linked 1 (C567906)
..expandMENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
..expandMENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
..expandMENTAL RETARDATION, X-LINKED 102 (OMIM:300958)
..expandMENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
..expandMENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
..expandMENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
..expandMENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
..expandMental retardation, X-linked 14 (C537454)
..expandMental Retardation, X-Linked 16 (C563139)
..expandMental Retardation, X-Linked 17 (C563140)
..expandMental Retardation, X-Linked 19 (C563141)
..expandMENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
..expandMental Retardation, X-Linked 2 (C563135)
..expandMental Retardation, X-Linked 20 (C563142)
..expandMENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..expandMental Retardation, X-Linked 23 (C563144)
..expandMental Retardation, X-Linked 3 (C563136)
..expandMental Retardation, X-Linked 30 (C563146)
..expandMental Retardation, X-Linked 31 (C563147)
..expandMental Retardation, X-Linked 34 (C563148)
..expandMENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
..expandMental Retardation, X-Linked 42 (C564524)
..expandMental Retardation, X-Linked 45 (C564503)
..expandMental Retardation, X-Linked 46 (C564513)
..expandMental Retardation, X-Linked 47 (C563151)
..expandMental Retardation, X-Linked 50 (C564713)
..expandMental Retardation, X-Linked 52 (C564502)
..expandMental Retardation, X-Linked 53 (C564533)
..expandMental Retardation, X-Linked 58 (C564566)
..expandMental Retardation, X-Linked 59 (C564470)
..expandMental Retardation, X-Linked 63 (C564522)
..expandMental Retardation, X-Linked 72 (C564547)
..expandMental Retardation, X-Linked 73 (C564528)
..expandMental Retardation, X-Linked 77 (C564511)
..expandMental Retardation, X-Linked 78 (C564489)
..expandMental Retardation, X-Linked 79 (C566876)
..expandMental Retardation, X-Linked 81 (C564515)
..expandMental Retardation, X-Linked 82 (C564496)
..expandMental Retardation, X-Linked 84 (C564501)
..expandMental Retardation, X-Linked 89 (C564036)
..expandMental Retardation, X-Linked 9 (C563137)
..expandMENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
..expandMental Retardation, X-Linked 91 (C564482)
..expandMental Retardation, X-Linked 92 (C564483)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked 94 (C567479)
..expandMental Retardation, X-Linked 95 (C567470)
..expandMENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..expandMENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
..expandMENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
..expandMENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
..expandMental Retardation, X-Linked Nonsyndromic (C564490)
..expandMental Retardation, X-Linked, Syndromic 10 (C564560)  LSDB  L: 00526;
..expandMental Retardation, X-Linked, Syndromic 13 (C566875)
..expandMental Retardation, X-Linked, Syndromic 14 (C567063)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 32 (OMIM:300886)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
..expandMental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..expandMental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..expandMental Retardation, X-Linked, Syp-Related (C567584)
..expandMental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..expandMental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..expandMental Retardation, X-Linked, with Epilepsy (C564516)
..expandMental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..expandMental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..expandMental Retardation, X-Linked, with Short Stature (C564527)
..expandMental Retardation, X-Linked, With Spasticity (C566877)
..expandMental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMiles-Carpenter x-linked mental retardation syndrome (C537472)
..expandMucopolysaccharidosis II (D016532)
..expandOpitz-Kaveggia syndrome (C537923)
..expandOrofaciodigital syndrome, Shashi type (C537135)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPlagiocephaly and X-linked mental retardation (C537512)
..expandPpm-X Syndrome (C580387)
..expandPrieto X-linked mental retardation syndrome (C535274)
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandRAYNAUD-CLAES SYNDROME (OMIM:300114)
..expandRenpenning syndrome 1 (C537761)
..expandRett Syndrome (D015518) Child5
..expandRoifman syndrome (C535866)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSiderius X-linked mental retardation syndrome (C537333)
..expandSnyder Robinson syndrome (C536678)
..expandStocco dos Santos syndrome (C537495)
..expandTONNE-KALSCHEUER SYNDROME (OMIM:300978)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandWittwer syndrome (C536737)
..expandX-linked mental retardation Gustavson type (C536759)
..expandX-linked mental retardation type Wittwer (C536760)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7792
Name:Mental Retardation, X-Linked, Syndromic 14
Definition:
Alternative IDs:OMIM:300676
ParentIDs:MESH:D038901
TreeNumbers:C10.597.606.360.455/C567063 |C16.320.322.500/C567063 |C16.320.400.525/C567063
Synonyms:MRXS14
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C567063
MeSH: C567063
OMIM: 300676;
MSeqDR LSDB:  
Genes: UPF3B;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003011Abnormality of the musculature
3 HP:0001166Arachnodactyly
4 HP:0002007Frontal bossing
5 HP:0001507Growth abnormality
NAMDC:  Constitutional
6 HP:0000218High palate
7 HP:0000327Hypoplasia of the maxilla
8 HP:0001249Intellectual disability
9 HP:0002808Kyphosis
10 HP:0000276Long face
11 HP:0001833Long foot
12 HP:0000256Macrocephaly
13 HP:0000303Mandibular prognathia
14 HP:0000774Narrow chest
15 HP:0000275Narrow face
16 HP:0001611Nasal speech
17 HP:0000768Pectus carinatum
18 HP:0000767Pectus excavatum
19 HP:0011220Prominent forehead
20 HP:0000426Prominent nasal bridge
21 HP:0002650Scoliosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000023.10:g.(?_118708675)_(119761021_?)dup65109UPF3BUncertain significance-1RCV003123017; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118708675119761021-
NC_000023.10:g.(?_118968821)_(118986911_?)dup65109UPF3BUncertain significance-1RCV001958231; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118968821118986911-1-
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)65109UPF3BUncertain significance-1RCV002639260; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118968941118968941NC_000023.10:g.118968941C>T-
NM_080632.3(UPF3B):c.1351del (p.Arg451fs)65109UPF3BPathogenic1556377028RCV000578335; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118968942118968942X:g.118968942_118968942delClinGen:CA658684327C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.1302+8T>C65109UPF3BBenign/Likely benign776786838RCV002103192|RCV003434410; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:C3661900X118971712118971712118971712-
NM_080632.3(UPF3B):c.1302+6G>A65109UPF3BUncertain significance752421745RCV002051514; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971714118971714118971714-
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)65109UPF3BPathogenic122468181RCV000012153|RCV000760391; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:CN517202X118971734118971734X:g.118971734G>AClinGen:CA121436,OMIM:300298.0003C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)65109UPF3BUncertain significance-1RCV002912719; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971756118971758NC_000023.10:g.118971756_118971758del-
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=)65109UPF3BBenign/Likely benign777574933RCV000864520|RCV002409030; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971762118971762X:g.118971762T>C-
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)65109UPF3BUncertain significance-1RCV002876806; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971766118971767NC_000023.10:g.118971772dup-
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln)65109UPF3BUncertain significance775993429RCV000705930; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971820118971820NC_000023.10:g.118971820C>T-C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp)65109UPF3BBenign/Likely benign375418085RCV002124846|RCV003015356; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971821118971821118971821-
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)65109UPF3BUncertain significance-1RCV002594727; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971826118971826NC_000023.10:g.118971826G>A-
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu)65109UPF3BUncertain significance898086981RCV000519345|RCV002525112; NMedGen:CN517202|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971833118971833X:g.118971833T>CClinGen:CA334123362CN169374 not specified;
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)65109UPF3BUncertain significance-1RCV003073734; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971846118971848NC_000023.10:g.118971848CTT[2]-
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)65109UPF3BPathogenic2147783395RCV002273274; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971855118971856118971854-
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=)65109UPF3BLikely benign2056117477RCV002180810; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971864118971864118971864-
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)65109UPF3BLikely pathogenic-1RCV002468879; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971875118971875NC_000023.10:g.118971875C>A-
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His)65109UPF3BConflicting interpretations of pathogenicity140032597RCV002120012|RCV002246676; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:CN169374X118971886118971886118971886-
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)65109UPF3BConflicting interpretations of pathogenicity143538947RCV000192954|RCV000544499|RCV002315517; NMedGen:CN169374|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971901118971901X:g.118971901C>TClinGen:CA206124C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)65109UPF3BBenign/Likely benign-1RCV003076749|RCV003076748; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971902118971902NC_000023.10:g.118971902G>A-
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)65109UPF3BConflicting interpretations of pathogenicity146785878RCV000660377|RCV003163042; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971904118971904X:g.118971904C>T-C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys)65109UPF3BBenign/Likely benign373472438RCV002197920|RCV002441287; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971905118971905118971905-
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)65109UPF3BUncertain significance-1RCV003081408; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971919118971919NC_000023.10:g.118971919C>T-
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp)65109UPF3BUncertain significance374676402RCV001344846|RCV002431971; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118971920118971920118971920-
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)65109UPF3BBenign/Likely benign199727706RCV000990933; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971921118971921X:g.118971921C>G-
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)65109UPF3BUncertain significance-1RCV002785342; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971947118971947NC_000023.10:g.118971947T>C-
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His)65109UPF3BBenign/Likely benign181034787RCV000502584|RCV002316451|RCV002527306; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971949118971949NC_000023.10:g.118971949C>TClinGen:CA10503195CN169374 not specified;
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys)65109UPF3BBenign139646537RCV001519127; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971950118971950X:g.118971950G>A-
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)65109UPF3BUncertain significance-1RCV002690215; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971970118971970NC_000023.10:g.118971970T>C-
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln)65109UPF3BUncertain significance185347914RCV001961799; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971973118971973118971973-
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)65109UPF3BUncertain significance-1RCV002595682; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118971974118971974NC_000023.10:g.118971974G>A-
NM_080632.3(UPF3B):c.1008-18_1008-17del65109UPF3BLikely benign-1RCV002586835; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972031118972032NC_000023.10:g.118972032_118972033del-
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)65109UPF3BBenign-1RCV002615573; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972348118972348NC_000023.10:g.118972348T>C-
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)65109UPF3BUncertain significance376175156RCV001770747|RCV002540283; NMedGen:C3661900|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972355118972355118972355-
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)65109UPF3BLikely pathogenic376175156RCV001784011; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972355118972355118972355-
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser)65109UPF3BConflicting interpretations of pathogenicity775715153RCV000194994|RCV000872743; NMedGen:CN169374|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972375118972375X:g.118972375A>GClinGen:CA209537CN169374 not specified;
NM_080632.3(UPF3B):c.960A>C (p.Thr320=)65109UPF3BLikely benign2147784327RCV002171615; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972377118972377118972377-
NM_080632.3(UPF3B):c.912G>A (p.Leu304=)65109UPF3BLikely benign-1RCV003056257; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972425118972425-
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs)65109UPF3BPathogenic1603370185RCV000012152; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972469118972470X:g.118972469_118972470delOMIM:300298.0002C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.847-7T>C65109UPF3BLikely benign-1RCV002881898; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118972497118972497NC_000023.10:g.118972497A>G-
NM_080632.3(UPF3B):c.846+19A>T65109UPF3BLikely benign-1RCV002695736; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118974590118974590NC_000023.10:g.118974590T>A-
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)65109UPF3BUncertain significance-1RCV003139242; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118974640118974640NC_000023.10:g.118974640C>T-
NM_080632.3(UPF3B):c.807+19T>C65109UPF3BBenign750984351RCV002171358; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975020118975020118975020-
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys)65109UPF3BBenign142862074RCV001516145|RCV002317402; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118975082118975082NC_000023.10:g.118975082C>TClinGen:CA10503270C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)65109UPF3BUncertain significance985384811RCV001331270; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975083118975083118975083-
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del)65109UPF3BUncertain significance2056156815RCV001174536; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975127118975129X:g.118975127_118975129del-
NM_080632.3(UPF3B):c.717A>G (p.Glu239=)65109UPF3BLikely benign-1RCV002577874; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975129118975129-
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs)65109UPF3BPathogenic1064794254RCV000483091|RCV000678370; NMedGen:CN517202|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975148118975149NC_000023.10:g.118975148CT[2]ClinGen:CA16621188
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)65109UPF3BPathogenic794727881RCV000012151|RCV000494240|RCV001787090; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MedGen:C3661900|X118975169118975172NC_000023.10:g.118975170TTCT[1]ClinGen:CA203521,OMIM:300298.0001
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)65109UPF3BPathogenic2147787331RCV001785117; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975176118975176118975176-
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)65109UPF3BUncertain significance147945173RCV001266967|RCV002272438; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975179118975179X:g.118975179T>C-
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)65109UPF3BLikely pathogenic-1RCV001270413; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975199118975200X:g.118975199_118975200del-
NM_080632.3(UPF3B):c.625-4C>T65109UPF3BLikely benign-1RCV002706484; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975225118975225NC_000023.10:g.118975225G>A-
NM_080632.3(UPF3B):c.625-11T>C65109UPF3BLikely benign-1RCV003013994; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118975232118975232NC_000023.10:g.118975232A>G-
NM_080632.3(UPF3B):c.580+10C>A65109UPF3BLikely benign-1RCV003047146; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118977144118977144NC_000023.10:g.118977144G>T-
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer)65109UPF3BPathogenic1603371016RCV000995676; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118977156118977159X:g.118977156_118977159del-
NM_080632.3(UPF3B):c.520A>G (p.Met174Val)65109UPF3BUncertain significance-1RCV002301668; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118977214118977214118977214-
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp)65109UPF3BPathogenic122468182RCV000012154; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118977256118977256X:g.118977256A>CClinGen:CA121438,UniProtKB:Q9BZI7#VAR_037666,OMIM:300298.0004C1970822 300676 Mental retardation, syndromic 14, X-linked;
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly)65109UPF3BUncertain significance2147790181RCV002030386; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118977264118977264118977264-
NM_080632.3(UPF3B):c.470-19T>C65109UPF3BBenign779967826RCV002116122; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118977283118977283118977283-
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)65109UPF3BUncertain significance-1RCV002582325; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118979167118979167NC_000023.10:g.118979167C>T-
NM_080632.3(UPF3B):c.462C>T (p.Ile154=)65109UPF3BLikely benign-1RCV003118445; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118979168118979168-
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)65109UPF3BUncertain significance-1RCV002357383|RCV003094429; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118979242118979242118979242-
NM_080632.3(UPF3B):c.277A>G (p.Met93Val)65109UPF3BUncertain significance770557726RCV001311100|RCV001871772|RCV002437065; NMedGen:C3661900|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118985551118985551118985551-
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)65109UPF3BLikely pathogenic-1RCV002294578; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985558118985558118985558-
NM_080632.3(UPF3B):c.265T>C (p.Leu89=)65109UPF3BBenign761622396RCV002127326; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985563118985563118985563-
NM_080632.3(UPF3B):c.264-34G>A65109UPF3BBenign2428212RCV000829628|RCV002245699; NMedGen:C3661900|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985598118985598X:g.118985598C>T-
NM_080632.3(UPF3B):c.263+7_263+18dup65109UPF3BBenign/Likely benign55712755RCV000193981|RCV001857709; NMedGen:CN169374|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985716_118985727dupClinGen:CA207836CN169374 not specified;
NM_080632.3(UPF3B):c.263+3_263+18dup65109UPF3BLikely benign55712755RCV002067042|RCV002318007; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118985711118985712NC_000023.10:g.118985712_118985727dup-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002147029; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+17_263+18dup65109UPF3BBenign55712755RCV002093369; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+8_263+18dup65109UPF3BLikely benign55712755RCV002081660; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+6_263+18dup65109UPF3BLikely benign55712755RCV002135508; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+11_263+18dup65109UPF3BLikely benign55712755RCV002115342; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18dup65109UPF3BBenign55712755RCV002207513; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+9_263+18dup65109UPF3BLikely benign55712755RCV002204605; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002151562; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002201068; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002105697; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002101123; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+10_263+18dup65109UPF3BLikely benign55712755RCV002209319; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002185351; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+5_263+18dup65109UPF3BLikely benign55712755RCV002108569|RCV002427681; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+15_263+18dup65109UPF3BBenign55712755RCV002101462; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+13_263+18dup65109UPF3BLikely benign55712755RCV002125773; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+12_263+18dup65109UPF3BLikely benign55712755RCV002125941; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+4_263+18dup65109UPF3BLikely benign55712755RCV002206231; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign55712755RCV002187080; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712118985711-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign-1RCV003106807; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTTTT-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC65109UPF3BLikely benign-1RCV002695900; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985712_118985713insGTTTTTTTTTTTT-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign-1RCV002880835; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTTTTTTTT-
NM_080632.3(UPF3B):c.263+14_263+18dup65109UPF3BBenign-1RCV002899981; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985723_118985727dup-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign-1RCV002913615; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTT-
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA65109UPF3BLikely benign-1RCV002953428; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985711118985712NC_000023.10:g.118985727_118985728insTTTTTTTTTTTTTTTTTTTTTTTTT-
NM_080632.3(UPF3B):c.263+18del65109UPF3BBenign55712755RCV002117832; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985712118985712118985711-
NM_080632.3(UPF3B):c.263+12A>G65109UPF3BLikely benign2056306448RCV002084057; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985718118985718118985718-
NM_080632.3(UPF3B):c.263+7A>T65109UPF3BLikely benign2147802761RCV002102949; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985723118985723118985723-
NM_080632.3(UPF3B):c.261G>T (p.Thr87=)65109UPF3BLikely benign749039837RCV002158843|RCV002434581; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118985732118985732118985732-
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)65109UPF3BUncertain significance-1RCV003054387; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985752118985752NC_000023.10:g.118985752C>T-
NM_080632.3(UPF3B):c.195G>A (p.Glu65=)65109UPF3BLikely benign-1RCV002666684; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985798118985798-
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)65109UPF3BPathogenic-1RCV003018402; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985833118985833NC_000023.10:g.118985833delinsGT-
NM_080632.3(UPF3B):c.159G>T (p.Val53=)65109UPF3BLikely benign-1RCV002996661; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985834118985834-
NM_080632.3(UPF3B):c.157-16T>G65109UPF3BBenign769285530RCV002165365; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118985852118985852118985852-
NM_080632.3(UPF3B):c.105G>A (p.Lys35=)65109UPF3BBenign143487370RCV002129687; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118986787118986787118986787-
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)65109UPF3BUncertain significance-1RCV002791350; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118986803118986803NC_000023.10:g.118986803G>A-
NM_080632.3(UPF3B):c.87C>T (p.Thr29=)65109UPF3BLikely benign-1RCV003118875; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118986805118986805-
NM_080632.3(UPF3B):c.66C>T (p.Ala22=)65109UPF3BLikely benign890947408RCV002111127; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118986826118986826118986826-
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)65109UPF3BUncertain significance-1RCV003007275; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118986836118986836NC_000023.10:g.118986836G>A-
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile)65109UPF3BBenign/Likely benign201833722RCV002064520|RCV003169123; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118986839118986839X:g.118986839G>A-
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro)65109UPF3BUncertain significance748622995RCV000395795|RCV001859659|RCV002348008; NMedGen:CN517202|MONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776|MeSH:D030342,MedGen:C0950123X118986840118986840X:g.118986840T>GClinGen:CA10503390CN169374 not specified;
NM_080632.3(UPF3B):c.33G>A (p.Glu11=)65109UPF3BLikely benign772315243RCV002539182; NMONDO:MONDO:0010398,MedGen:C1970822,OMIM:300676, Orphanet:776X118986859118986859X:g.118986859C>T-
MSeqDR Portal