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

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

Disease Browser
Parent Node: Epilepsy (D004827)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Mental Retardation, X-Linked, with Epilepsy (C564516)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..MENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
..MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
..MENTAL RETARDATION, X-LINKED 102 (OMIM:300958)
..MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
..MENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
..MENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
..MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..MENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..MENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
..MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
..MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560) L: 00526;
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 (OMIM:300886)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
..RAYNAUD-CLAES SYNDROME (OMIM:300114)
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..TONNE-KALSCHEUER SYNDROME (OMIM:300978)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-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 :
Genes: ATP6AP2; TNNT1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002345	Action tremor
4	HP:0011812	Agraphesthesia
5	HP:0010527	Astereognosia
6	HP:0003487	Babinski sign
7	HP:0002067	Bradykinesia
8	HP:0001272	Cerebellar atrophy
9	HP:0002059	Cerebral atrophy
10	HP:0000750	Delayed speech and language development NAMDC: Delayed language
11	HP:0001288	Gait disturbance
12	HP:0002069	Generalized tonic-clonic seizures
13	HP:0000338	Hypomimic face
14	HP:0002079	Hypoplasia of the corpus callosum
15	HP:0001265	Hyporeflexia
16	HP:0001249	Intellectual disability
17	HP:0001270	Motor delay
18	HP:0001300	Parkinsonism NAMDC: Parkinsonism
19	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_39911342)_(41782261_?)dup	10159	ATP6AP2	Uncertain significance	-1	RCV000640920;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	39911342	41782261		-	C2749054 Mental retardation, CASK-related, X-linked;
NC_000023.10:g.(?_39911362)_(41091777_?)dup	10159	ATP6AP2	Uncertain significance	-1	RCV001920633;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	39911362	41091777	-1	-
NC_000023.11:g.(?_40581046)_(40605775_?)dup	10159	ATP6AP2	Uncertain significance	-1	RCV001033282;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40440298	40465027	-1	-
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe)	10159	ATP6AP2	Conflicting interpretations of pathogenicity	rs765852654	RCV000186817\|RCV001852440;	N	MedGen:CN169374\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40440336	40440336	X:g.40440336C>T	ClinGen:CA313357	CN169374 not specified;
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=)	10159	ATP6AP2	Uncertain significance	rs1926309103	RCV001307919;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40440350	40440350	40440350	-
NM_005765.3(ATP6AP2):c.37+12G>A	10159	ATP6AP2	Likely benign	-1	RCV002142335;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40440366	40440366	40440366	-
NM_005765.3(ATP6AP2):c.38-13G>A	10159	ATP6AP2	Likely benign	-1	RCV002138124;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448225	40448225	40448225	-
NM_005765.3(ATP6AP2):c.38-5T>C	10159	ATP6AP2	Benign/Likely benign	rs190477001	RCV000123781\|RCV000536001\|RCV002498590;	N	MedGen: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:301045	X	40448233	40448233	X:g.40448233T>C	ClinGen:CA289601	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)	10159	ATP6AP2	Uncertain significance	-1	RCV002024357;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448247	40448247	40448247	-
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)	10159	ATP6AP2	Uncertain significance	rs1926552105	RCV001069354\|RCV001577109;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202	X	40448250	40448250	X:g.40448250A>G	-
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=)	10159	ATP6AP2	Likely benign	-1	RCV002163612\|RCV002292687;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202	X	40448251	40448251	40448251	-
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser)	10159	ATP6AP2	Uncertain significance	-1	RCV001985685;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448306	40448306	40448306	-
NM_005765.3(ATP6AP2):c.120G>A (p.Glu40=)	10159	ATP6AP2	Likely benign	-1	RCV001475510\|RCV001713093;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202	X	40448320	40448320	40448320	-
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)	10159	ATP6AP2	Uncertain significance	-1	RCV001986802;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448322	40448322	40448322	-
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe)	10159	ATP6AP2	Uncertain significance	rs759094089	RCV000175810\|RCV001852157;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448358	40448358	X:g.40448358C>T	ClinGen:CA241593	CN169374 not specified;
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)	10159	ATP6AP2	Uncertain significance	rs767128351	RCV001056580;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448360	40448360	X:g.40448360G>T	-
NM_005765.3(ATP6AP2):c.168+6T>A	10159	ATP6AP2	Uncertain significance	rs1057519331	RCV000416367\|RCV002402114;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MeSH:D030342,MedGen:C0950123	X	40448374	40448374	NC_000023.10:g.40448374T>A	ClinGen:CA16044023,OMIM:300556.0003	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.168+7A>G	10159	ATP6AP2	Likely benign	-1	RCV002116354;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40448375	40448375	40448375	-
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)	10159	ATP6AP2	Benign/Likely benign	rs150392503	RCV000123777\|RCV000536946\|RCV000721048\|RCV001701758;	N	MedGen:CN169374\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:C2711754\|MedGen:CN517202	X	40450506	40450506	X:g.40450506C>T	ClinGen:CA289598	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr)	10159	ATP6AP2	Uncertain significance	rs910550834	RCV000494269\|RCV001856966;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450507	40450507	X:g.40450507G>A	ClinGen:CA328985467	CN169374 not specified;
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu)	10159	ATP6AP2	Uncertain significance	-1	RCV001368506;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450526	40450526	40450526	-
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)	10159	ATP6AP2	Uncertain significance	rs138150013	RCV001068000;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450535	40450535	X:g.40450535G>A	-
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile)	10159	ATP6AP2	Uncertain significance	-1	RCV001911753;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450543	40450543	40450543	-
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)	10159	ATP6AP2	Uncertain significance	-1	RCV001955255;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450576	40450576	40450576	-
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val)	10159	ATP6AP2	Uncertain significance	-1	RCV002010675;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450579	40450579	40450579	-
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)	10159	ATP6AP2	Benign	rs9014	RCV000081328\|RCV000549577\|RCV001580131\|RCV002316249;	N	MedGen:CN169374\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	40450585	40450585	X:g.40450585C>G	ClinGen:CA148417,UniProtKB:O75787#VAR_051313	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)	10159	ATP6AP2	Uncertain significance	-1	RCV002018306\|RCV002471219;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MONDO:MONDO:0100146,MedGen:CN294805	X	40450592	40450592	40450592	-
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)	10159	ATP6AP2	Benign	rs34217273	RCV000116455\|RCV000527978\|RCV000720952\|RCV001082746;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:C2711754\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450602	40450602	X:g.40450602G>A	ClinGen:CA288695	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=)	10159	ATP6AP2	Likely benign	-1	RCV002143027;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450602	40450602	40450602	-
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser)	10159	ATP6AP2	Uncertain significance	rs1926621605	RCV001323396;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450606	40450606	40450606	-
NM_005765.3(ATP6AP2):c.300+19A>C	10159	ATP6AP2	Likely benign	rs763279174	RCV000426021\|RCV002063620;	N	MedGen:CN169374\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40450636	40450636	X:g.40450636A>C	ClinGen:CA10387185	CN169374 not specified;
NM_005765.3(ATP6AP2):c.301-11_301-10del	10159	ATP6AP2	Pathogenic	rs1926795050	RCV001078442;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456490	40456491	X:g.40456490_40456491del	OMIM:300556.0006
NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=)	10159	ATP6AP2	Likely benign	-1	RCV001476715;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456503	40456503	40456503	-
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg)	10159	ATP6AP2	Uncertain significance	rs745748841	RCV000186820\|RCV000694376;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456515	40456515	NC_000023.10:g.40456515T>G	ClinGen:CA313363	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)	10159	ATP6AP2	Pathogenic	rs121918521	RCV000011548;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456521	40456521	X:g.40456521C>T	ClinGen:CA121185,OMIM:300556.0001	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.324T>C (p.Ser108=)	10159	ATP6AP2	Likely benign	-1	RCV002147416;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456524	40456524	40456524	-
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=)	10159	ATP6AP2	Benign/Likely benign	rs138952430	RCV000937156\|RCV001519229;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456557	40456557	X:g.40456557G>A	-
NM_005765.3(ATP6AP2):c.372T>G (p.Val124=)	10159	ATP6AP2	Likely benign	-1	RCV002186431;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456572	40456572	40456572	-
NM_005765.3(ATP6AP2):c.397-13A>G	10159	ATP6AP2	Likely benign	rs369015249	RCV001703647\|RCV002062391;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456766	40456766	X:g.40456766A>G	ClinGen:CA10387209	CN169374 not specified;
NM_005765.3(ATP6AP2):c.398G>A (p.Arg133Lys)	10159	ATP6AP2	Likely benign	-1	RCV001464818;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456780	40456780	40456780	-
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)	10159	ATP6AP2	Uncertain significance	rs1555977799	RCV000548651;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456790	40456790	X:g.40456790G>A	ClinGen:CA412755569	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.411A>G (p.Val137=)	10159	ATP6AP2	Likely benign	-1	RCV002178770;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456793	40456793	40456793	-
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=)	10159	ATP6AP2	Likely benign	rs1555977800	RCV000524796\|RCV001430009;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456805	40456805	NC_000023.10:g.40456805C>T	ClinGen:CA515968562	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)	10159	ATP6AP2	Uncertain significance	rs1926802970	RCV001246557;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456810	40456810	X:g.40456810T>C	-
NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=)	10159	ATP6AP2	Likely benign	-1	RCV001490817;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456826	40456826	40456826	-
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)	10159	ATP6AP2	Uncertain significance	-1	RCV001966820;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456830	40456830	40456830	-
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys)	10159	ATP6AP2	Uncertain significance	-1	RCV002046014;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456836	40456836	40456836	-
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)	10159	ATP6AP2	Uncertain significance	rs184634552	RCV001344097\|RCV002271643;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN169374	X	40456837	40456837	40456837	-
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys)	10159	ATP6AP2	Uncertain significance	rs146371390	RCV000186813\|RCV001036514;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456845	40456845	NC_000023.10:g.40456845C>T	ClinGen:CA313352	CN169374 not specified;
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)	10159	ATP6AP2	Uncertain significance	rs138458908	RCV001228558;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456851	40456851	X:g.40456851C>T	-
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=)	10159	ATP6AP2	Likely benign	rs372993268	RCV000864737\|RCV002064502;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456854	40456854	X:g.40456854C>T	-
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	10159	ATP6AP2	Conflicting interpretations of pathogenicity	rs142013283	RCV000640918\|RCV000767901\|RCV001704969;	N	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\|MedGen:CN517202	X	40456872	40456872	X:g.40456872G>A	ClinGen:CA313354	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys)	10159	ATP6AP2	Uncertain significance	-1	RCV001365426;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456878	40456878	40456878	-
NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=)	10159	ATP6AP2	Likely benign	-1	RCV001440140;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456886	40456886	40456886	-
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=)	10159	ATP6AP2	Likely benign	rs775818303	RCV000937157\|RCV002336957;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MeSH:D030342,MedGen:C0950123	X	40456898	40456898	X:g.40456898T>C	-
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser)	10159	ATP6AP2	Uncertain significance	rs377762605	RCV001316007;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456912	40456912	40456912	-
NM_005765.3(ATP6AP2):c.534+7G>A	10159	ATP6AP2	Conflicting interpretations of pathogenicity	rs369876508	RCV000267589\|RCV001444866;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456923	40456923	X:g.40456923G>A	ClinGen:CA10387224	CN169374 not specified;
NM_005765.3(ATP6AP2):c.534+8C>T	10159	ATP6AP2	Likely benign	-1	RCV002107265;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456924	40456924	40456924	-
NM_005765.3(ATP6AP2):c.534+10G>C	10159	ATP6AP2	Benign/Likely benign	rs758140053	RCV001515533\|RCV001697564;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202	X	40456926	40456926	X:g.40456926G>C	ClinGen:CA10387226	CN169374 not specified;
NM_005765.3(ATP6AP2):c.534+14T>A	10159	ATP6AP2	Likely benign	-1	RCV002120110;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456930	40456930	40456930	-
NM_005765.3(ATP6AP2):c.534+16C>T	10159	ATP6AP2	Likely benign	-1	RCV002184813;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40456932	40456932	40456932	-
NM_005765.3(ATP6AP2):c.534+45G>C	10159	ATP6AP2	Benign	-1	RCV001553940\|RCV001553939\|RCV001647429;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MONDO:MONDO:0026765,MedGen:C5393313,OMIM:301045\|MedGen:CN517202	X	40456961	40456961	40456961	-
NM_005765.3(ATP6AP2):c.535-14T>G	10159	ATP6AP2	Likely benign	-1	RCV002082705;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40457919	40457919	40457919	-
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)	10159	ATP6AP2	Uncertain significance	-1	RCV001904468;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40457934	40457934	40457934	-
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly)	10159	ATP6AP2	Uncertain significance	-1	RCV002041422;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40457937	40457937	40457937	-
NM_005765.3(ATP6AP2):c.589-12T>C	10159	ATP6AP2	Likely benign	-1	RCV002186062;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458832	40458832	40458832	-
NM_005765.3(ATP6AP2):c.589-3A>G	10159	ATP6AP2	Uncertain significance	-1	RCV001921692;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458841	40458841	40458841	-
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His)	10159	ATP6AP2	Uncertain significance	rs751433380	RCV000186821\|RCV000541972;	N	MedGen:CN517202\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458851	40458851	X:g.40458851G>A	ClinGen:CA313365	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.609A>G (p.Leu203=)	10159	ATP6AP2	Likely benign	-1	RCV001426827;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458864	40458864	40458864	-
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn)	10159	ATP6AP2	Uncertain significance	-1	RCV001977600;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458870	40458870	40458870	-
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)	10159	ATP6AP2	Likely pathogenic	-1	RCV002272782;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458883	40458883	40458883	-
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys)	10159	ATP6AP2	Uncertain significance	-1	RCV001897154;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458928	40458928	40458928	-
NM_005765.3(ATP6AP2):c.678T>C (p.Tyr226=)	10159	ATP6AP2	Likely benign	-1	RCV002162995;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458933	40458933	40458933	-
NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=)	10159	ATP6AP2	Likely benign	-1	RCV001471611;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458945	40458945	40458945	-
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val)	10159	ATP6AP2	Uncertain significance	-1	RCV001945733;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458947	40458947	40458947	-
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)	10159	ATP6AP2	Uncertain significance	-1	RCV001935780;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40458979	40458979	40458979	-
NM_005765.3(ATP6AP2):c.738+8T>A	10159	ATP6AP2	Likely benign	-1	RCV001465643;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40459001	40459001	40459001	-
NM_005765.3(ATP6AP2):c.738+15G>A	10159	ATP6AP2	Likely benign	-1	RCV002089735;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40459008	40459008	40459008	-
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)	10159	ATP6AP2	Uncertain significance	-1	RCV002008858;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40460027	40460027	40460027	-
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)	10159	ATP6AP2	Benign	rs7691	RCV000081329\|RCV001514820\|RCV001711245\|RCV002390238;	N	MedGen:CN169374\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	40460040	40460040	X:g.40460040T>C	ClinGen:CA148419	CN169374 not specified;
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=)	10159	ATP6AP2	Likely benign	rs149902247	RCV001413869\|RCV001702450;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202	X	40460097	40460097	X:g.40460097T>C	ClinGen:CA10387276	CN169374 not specified;
NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=)	10159	ATP6AP2	Likely benign	-1	RCV002149045;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40460109	40460109	40460109	-
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)	10159	ATP6AP2	Uncertain significance	rs1555978066	RCV000554584;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40460115	40460115	X:g.40460115C>G	ClinGen:CA412757840	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)	10159	ATP6AP2	Uncertain significance	rs1555978069	RCV000640919;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40460133	40460133	NC_000023.10:g.40460133G>A	ClinGen:CA515972335	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.859-11C>G	10159	ATP6AP2	Likely benign	-1	RCV002209456;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464802	40464802	40464802	-
NM_005765.3(ATP6AP2):c.859-9A>G	10159	ATP6AP2	Likely benign	-1	RCV001460242;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464804	40464804	40464804	-
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)	10159	ATP6AP2	Benign	rs35798522	RCV000116456\|RCV000526186\|RCV001573711\|RCV002316295;	N	MedGen:CN169374\|MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	X	40464822	40464822	X:g.40464822G>C	ClinGen:CA288697,UniProtKB:O75787#VAR_051314	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.888A>G (p.Ala296=)	10159	ATP6AP2	Likely benign	-1	RCV002194174;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464842	40464842	40464842	-
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His)	10159	ATP6AP2	Conflicting interpretations of pathogenicity	rs756836341	RCV000538751\|RCV001712212;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952\|MedGen:CN517202	X	40464876	40464876	X:g.40464876A>C	ClinGen:CA10387305	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)	10159	ATP6AP2	Uncertain significance	-1	RCV001953988;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464896	40464896	40464896	-
NM_005765.3(ATP6AP2):c.948C>T (p.Ala316=)	10159	ATP6AP2	Likely benign	-1	RCV001402566;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464902	40464902	40464902	-
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp)	10159	ATP6AP2	Uncertain significance	rs1555978614	RCV000555915;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464907	40464907	X:g.40464907C>A	ClinGen:CA412758976	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met)	10159	ATP6AP2	Uncertain significance	-1	RCV002014320;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464915	40464915	40464915	-
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)	10159	ATP6AP2	Uncertain significance	rs1927055441	RCV001060087;	N	MONDO:MONDO:0010319,MedGen:C1845543,OMIM:300423, Orphanet:93952	X	40464969	40464969	X:g.40464969A>G	-
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)	10159	ATP6AP2	Benign/Likely benign	rs79790275	RCV000180624\|RCV000560745\|RCV002492790;	N	MedGen: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:301045	X	40465004	40465004	X:g.40465004T>C	ClinGen:CA303077	C1845543 300423 Mental retardation, X-linked, syndromic, Hedera type;

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