MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Epilepsy (D004827)
Parent Node:
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Mental Retardation, X-Linked (D038901)
..Starting node
..expand
Mental Retardation, X-Linked, with Epilepsy (C564516)

       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:7811
Name:Mental Retardation, X-Linked, with Epilepsy
Definition:
Alternative IDs:OMIM:300423
ParentIDs:MESH:D004827|MESH:D038901
TreeNumbers:C10.228.140.490/C564516 |C10.597.606.360.455/C564516 |C16.320.322.500/C564516 |C16.320.400.525/C564516
Synonyms:MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE |MENTAL RETARDATION, X-LINKED, WITH EPILEPSY |MRXE |MRXSH
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C564516
MeSH: C564516
OMIM: 300423;
MSeqDR LSDB:  
Genes: ATP6AP2; TNNT1;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003593Infantile onset
3 HP:0002345Action tremor
4 HP:0011812Agraphesthesia
5 HP:0010527Astereognosia
6 HP:0003487Babinski sign
7 HP:0002067Bradykinesia
8 HP:0001272Cerebellar atrophy
9 HP:0002059Cerebral atrophy
10 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
11 HP:0001288Gait disturbance
12 HP:0002069Generalized tonic-clonic seizures
13 HP:0000338Hypomimic face
14 HP:0002079Hypoplasia of the corpus callosum
15 HP:0001265Hyporeflexia
16 HP:0001249Intellectual disability
17 HP:0001270Motor delay
18 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
19 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000023.10:g.(?_39911342)_(41782261_?)dup10159ATP6AP2Uncertain significance-1RCV000640920; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X3991134241782261-C2749054 Mental retardation, CASK-related, X-linked;
NC_000023.10:g.(?_39911362)_(41091777_?)dup10159ATP6AP2Uncertain significance-1RCV001920633; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X3991136241091777-1-
NC_000023.11:g.(?_40581046)_(40605775_?)dup10159ATP6AP2Uncertain significance-1RCV001033282; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4044029840465027-1-
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe)10159ATP6AP2Conflicting interpretations of pathogenicityrs765852654RCV000186817|RCV001852440; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4044033640440336X:g.40440336C>TClinGen:CA313357CN169374 not specified;
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=)10159ATP6AP2Uncertain significancers1926309103RCV001307919; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404403504044035040440350-
NM_005765.3(ATP6AP2):c.37+12G>A10159ATP6AP2Likely benign-1RCV002142335; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404403664044036640440366-
NM_005765.3(ATP6AP2):c.38-13G>A10159ATP6AP2Likely benign-1RCV002138124; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404482254044822540448225-
NM_005765.3(ATP6AP2):c.38-5T>C10159ATP6AP2Benign/Likely benignrs190477001RCV000123781|RCV000536001|RCV002498590; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MONDO:MONDO:0010482,MedGen:C3806722,OMIM:300911, Orphanet:363654; MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952; MONDO:MONDO:0026765,MedGen:C5393313,OMIM:301045X4044823340448233X:g.40448233T>CClinGen:CA289601C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)10159ATP6AP2Uncertain significance-1RCV002024357; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404482474044824740448247-
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)10159ATP6AP2Uncertain significancers1926552105RCV001069354|RCV001577109; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202X4044825040448250X:g.40448250A>G-
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=)10159ATP6AP2Likely benign-1RCV002163612|RCV002292687; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202X404482514044825140448251-
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser)10159ATP6AP2Uncertain significance-1RCV001985685; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404483064044830640448306-
NM_005765.3(ATP6AP2):c.120G>A (p.Glu40=)10159ATP6AP2Likely benign-1RCV001475510|RCV001713093; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202X404483204044832040448320-
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)10159ATP6AP2Uncertain significance-1RCV001986802; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404483224044832240448322-
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe)10159ATP6AP2Uncertain significancers759094089RCV000175810|RCV001852157; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4044835840448358X:g.40448358C>TClinGen:CA241593CN169374 not specified;
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)10159ATP6AP2Uncertain significancers767128351RCV001056580; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4044836040448360X:g.40448360G>T-
NM_005765.3(ATP6AP2):c.168+6T>A10159ATP6AP2Uncertain significancers1057519331RCV000416367|RCV002402114; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MeSH:D030342,MedGen:C0950123X4044837440448374NC_000023.10:g.40448374T>AClinGen:CA16044023,OMIM:300556.0003C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.168+7A>G10159ATP6AP2Likely benign-1RCV002116354; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404483754044837540448375-
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)10159ATP6AP2Benign/Likely benignrs150392503RCV000123777|RCV000536946|RCV000721048|RCV001701758; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:C2711754|MedGen:CN517202X4045050640450506X:g.40450506C>TClinGen:CA289598C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr)10159ATP6AP2Uncertain significancers910550834RCV000494269|RCV001856966; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045050740450507X:g.40450507G>AClinGen:CA328985467CN169374 not specified;
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu)10159ATP6AP2Uncertain significance-1RCV001368506; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404505264045052640450526-
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)10159ATP6AP2Uncertain significancers138150013RCV001068000; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045053540450535X:g.40450535G>A-
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile)10159ATP6AP2Uncertain significance-1RCV001911753; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404505434045054340450543-
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)10159ATP6AP2Uncertain significance-1RCV001955255; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404505764045057640450576-
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val)10159ATP6AP2Uncertain significance-1RCV002010675; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404505794045057940450579-
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)10159ATP6AP2Benignrs9014RCV000081328|RCV000549577|RCV001580131|RCV002316249; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X4045058540450585X:g.40450585C>GClinGen:CA148417,UniProtKB:O75787#VAR_051313C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)10159ATP6AP2Uncertain significance-1RCV002018306|RCV002471219; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MONDO:MONDO:0100146,MedGen:CN294805X404505924045059240450592-
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)10159ATP6AP2Benignrs34217273RCV000116455|RCV000527978|RCV000720952|RCV001082746; NMedGen:CN169374|MedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045060240450602X:g.40450602G>AClinGen:CA288695C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=)10159ATP6AP2Likely benign-1RCV002143027; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404506024045060240450602-
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser)10159ATP6AP2Uncertain significancers1926621605RCV001323396; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404506064045060640450606-
NM_005765.3(ATP6AP2):c.300+19A>C10159ATP6AP2Likely benignrs763279174RCV000426021|RCV002063620; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045063640450636X:g.40450636A>CClinGen:CA10387185CN169374 not specified;
NM_005765.3(ATP6AP2):c.301-11_301-10del10159ATP6AP2Pathogenicrs1926795050RCV001078442; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045649040456491X:g.40456490_40456491delOMIM:300556.0006
NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=)10159ATP6AP2Likely benign-1RCV001476715; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404565034045650340456503-
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg)10159ATP6AP2Uncertain significancers745748841RCV000186820|RCV000694376; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045651540456515NC_000023.10:g.40456515T>GClinGen:CA313363C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)10159ATP6AP2Pathogenicrs121918521RCV000011548; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045652140456521X:g.40456521C>TClinGen:CA121185,OMIM:300556.0001C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.324T>C (p.Ser108=)10159ATP6AP2Likely benign-1RCV002147416; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404565244045652440456524-
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=)10159ATP6AP2Benign/Likely benignrs138952430RCV000937156|RCV001519229; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045655740456557X:g.40456557G>A-
NM_005765.3(ATP6AP2):c.372T>G (p.Val124=)10159ATP6AP2Likely benign-1RCV002186431; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404565724045657240456572-
NM_005765.3(ATP6AP2):c.397-13A>G10159ATP6AP2Likely benignrs369015249RCV001703647|RCV002062391; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045676640456766X:g.40456766A>GClinGen:CA10387209CN169374 not specified;
NM_005765.3(ATP6AP2):c.398G>A (p.Arg133Lys)10159ATP6AP2Likely benign-1RCV001464818; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404567804045678040456780-
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)10159ATP6AP2Uncertain significancers1555977799RCV000548651; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045679040456790X:g.40456790G>AClinGen:CA412755569C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.411A>G (p.Val137=)10159ATP6AP2Likely benign-1RCV002178770; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404567934045679340456793-
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=)10159ATP6AP2Likely benignrs1555977800RCV000524796|RCV001430009; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045680540456805NC_000023.10:g.40456805C>TClinGen:CA515968562C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)10159ATP6AP2Uncertain significancers1926802970RCV001246557; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045681040456810X:g.40456810T>C-
NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=)10159ATP6AP2Likely benign-1RCV001490817; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404568264045682640456826-
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)10159ATP6AP2Uncertain significance-1RCV001966820; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404568304045683040456830-
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys)10159ATP6AP2Uncertain significance-1RCV002046014; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404568364045683640456836-
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)10159ATP6AP2Uncertain significancers184634552RCV001344097|RCV002271643; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN169374X404568374045683740456837-
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys)10159ATP6AP2Uncertain significancers146371390RCV000186813|RCV001036514; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045684540456845NC_000023.10:g.40456845C>TClinGen:CA313352CN169374 not specified;
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)10159ATP6AP2Uncertain significancers138458908RCV001228558; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045685140456851X:g.40456851C>T-
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=)10159ATP6AP2Likely benignrs372993268RCV000864737|RCV002064502; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045685440456854X:g.40456854C>T-
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)10159ATP6AP2Conflicting interpretations of pathogenicityrs142013283RCV000640918|RCV000767901|RCV001704969; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952; MONDO:MONDO:0010482,MedGen:C3806722,OMIM:300911, Orphanet:363654|MedGen:CN517202X4045687240456872X:g.40456872G>AClinGen:CA313354C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys)10159ATP6AP2Uncertain significance-1RCV001365426; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404568784045687840456878-
NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=)10159ATP6AP2Likely benign-1RCV001440140; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404568864045688640456886-
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=)10159ATP6AP2Likely benignrs775818303RCV000937157|RCV002336957; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MeSH:D030342,MedGen:C0950123X4045689840456898X:g.40456898T>C-
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser)10159ATP6AP2Uncertain significancers377762605RCV001316007; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404569124045691240456912-
NM_005765.3(ATP6AP2):c.534+7G>A10159ATP6AP2Conflicting interpretations of pathogenicityrs369876508RCV000267589|RCV001444866; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045692340456923X:g.40456923G>AClinGen:CA10387224CN169374 not specified;
NM_005765.3(ATP6AP2):c.534+8C>T10159ATP6AP2Likely benign-1RCV002107265; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404569244045692440456924-
NM_005765.3(ATP6AP2):c.534+10G>C10159ATP6AP2Benign/Likely benignrs758140053RCV001515533|RCV001697564; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202X4045692640456926X:g.40456926G>CClinGen:CA10387226CN169374 not specified;
NM_005765.3(ATP6AP2):c.534+14T>A10159ATP6AP2Likely benign-1RCV002120110; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404569304045693040456930-
NM_005765.3(ATP6AP2):c.534+16C>T10159ATP6AP2Likely benign-1RCV002184813; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404569324045693240456932-
NM_005765.3(ATP6AP2):c.534+45G>C10159ATP6AP2Benign-1RCV001553940|RCV001553939|RCV001647429; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MONDO:MONDO:0026765,MedGen:C5393313,OMIM:301045|MedGen:CN517202X404569614045696140456961-
NM_005765.3(ATP6AP2):c.535-14T>G10159ATP6AP2Likely benign-1RCV002082705; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404579194045791940457919-
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)10159ATP6AP2Uncertain significance-1RCV001904468; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404579344045793440457934-
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly)10159ATP6AP2Uncertain significance-1RCV002041422; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404579374045793740457937-
NM_005765.3(ATP6AP2):c.589-12T>C10159ATP6AP2Likely benign-1RCV002186062; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404588324045883240458832-
NM_005765.3(ATP6AP2):c.589-3A>G10159ATP6AP2Uncertain significance-1RCV001921692; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404588414045884140458841-
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His)10159ATP6AP2Uncertain significancers751433380RCV000186821|RCV000541972; NMedGen:CN517202|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4045885140458851X:g.40458851G>AClinGen:CA313365C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.609A>G (p.Leu203=)10159ATP6AP2Likely benign-1RCV001426827; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404588644045886440458864-
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn)10159ATP6AP2Uncertain significance-1RCV001977600; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404588704045887040458870-
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)10159ATP6AP2Likely pathogenic-1RCV002272782; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404588834045888340458883-
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys)10159ATP6AP2Uncertain significance-1RCV001897154; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404589284045892840458928-
NM_005765.3(ATP6AP2):c.678T>C (p.Tyr226=)10159ATP6AP2Likely benign-1RCV002162995; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404589334045893340458933-
NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=)10159ATP6AP2Likely benign-1RCV001471611; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404589454045894540458945-
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val)10159ATP6AP2Uncertain significance-1RCV001945733; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404589474045894740458947-
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)10159ATP6AP2Uncertain significance-1RCV001935780; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404589794045897940458979-
NM_005765.3(ATP6AP2):c.738+8T>A10159ATP6AP2Likely benign-1RCV001465643; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404590014045900140459001-
NM_005765.3(ATP6AP2):c.738+15G>A10159ATP6AP2Likely benign-1RCV002089735; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404590084045900840459008-
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)10159ATP6AP2Uncertain significance-1RCV002008858; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404600274046002740460027-
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)10159ATP6AP2Benignrs7691RCV000081329|RCV001514820|RCV001711245|RCV002390238; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X4046004040460040X:g.40460040T>CClinGen:CA148419CN169374 not specified;
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=)10159ATP6AP2Likely benignrs149902247RCV001413869|RCV001702450; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202X4046009740460097X:g.40460097T>CClinGen:CA10387276CN169374 not specified;
NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=)10159ATP6AP2Likely benign-1RCV002149045; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404601094046010940460109-
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)10159ATP6AP2Uncertain significancers1555978066RCV000554584; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4046011540460115X:g.40460115C>GClinGen:CA412757840C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)10159ATP6AP2Uncertain significancers1555978069RCV000640919; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4046013340460133NC_000023.10:g.40460133G>AClinGen:CA515972335C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.859-11C>G10159ATP6AP2Likely benign-1RCV002209456; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404648024046480240464802-
NM_005765.3(ATP6AP2):c.859-9A>G10159ATP6AP2Likely benign-1RCV001460242; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404648044046480440464804-
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)10159ATP6AP2Benignrs35798522RCV000116456|RCV000526186|RCV001573711|RCV002316295; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X4046482240464822X:g.40464822G>CClinGen:CA288697,UniProtKB:O75787#VAR_051314C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.888A>G (p.Ala296=)10159ATP6AP2Likely benign-1RCV002194174; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404648424046484240464842-
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His)10159ATP6AP2Conflicting interpretations of pathogenicityrs756836341RCV000538751|RCV001712212; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MedGen:CN517202X4046487640464876X:g.40464876A>CClinGen:CA10387305C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)10159ATP6AP2Uncertain significance-1RCV001953988; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404648964046489640464896-
NM_005765.3(ATP6AP2):c.948C>T (p.Ala316=)10159ATP6AP2Likely benign-1RCV001402566; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404649024046490240464902-
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp)10159ATP6AP2Uncertain significancers1555978614RCV000555915; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4046490740464907X:g.40464907C>AClinGen:CA412758976C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met)10159ATP6AP2Uncertain significance-1RCV002014320; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X404649154046491540464915-
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)10159ATP6AP2Uncertain significancers1927055441RCV001060087; NMONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952X4046496940464969X:g.40464969A>G-
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)10159ATP6AP2Benign/Likely benignrs79790275RCV000180624|RCV000560745|RCV002492790; NMedGen:CN169374|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952; MONDO:MONDO:0010482,MedGen:C3806722,OMIM:300911, Orphanet:363654; MONDO:MONDO:0026765,MedGen:C5393313,OMIM:301045X4046500440465004X:g.40465004T>CClinGen:CA303077C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
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