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Gene: LOC109610631 (aristaless related homeobox polyalanine expansion region) Homo sapiens

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Symbol:

LOC109610631

Name:

aristaless related homeobox polyalanine expansion region

RGD ID:

38633228

Description:

This biological region is found within the coding region of the aristaless related homeobox (ARX) gene on the p arm of the X chromosome. There are four polyalanine coding tracks within the ARX gene, and expansions have been documented for two of these polyalanine tracts. The first polyalanine tract contains 16 consecutive alanines on the reference genome. Expansions of (GCG)n resulting in a total of 23 or 27 consecutive alanines are associated with intellectual disability disorders, but with variable clinical presentation. The larger expansion results in a more severe phenotype. The second polyalanine tract contains 12 consecutive alanines on the reference genome. Expansions resulting in tracts of 20 or 21 alanines have been observed, and are associated with disorders with variable clinical presentations. [provided by RefSeq, Jan 2017]

Type:

biological-region

RefSeq Status:

REVIEWED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	25,013,530 - 25,013,697 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	25,031,647 - 25,031,814 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	X	p21.3	NCBI
T2T-CHM13v2.0	X	24,597,767 - 24,597,934 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC109610631	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:24643514 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:11889467 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:28492532
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:21496008 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:19439424 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:18414213 and PMID:28492532
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epileptic encephalopathy more ...	ClinVar	PMID:10353782 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:11889467 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:11889467 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epileptic encephalopathy more ...	ClinVar	PMID:16235064 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:11889467 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:11889467 more ...
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:25741868
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1	ClinVar	PMID:19606478
LOC109610631	Human	developmental and epileptic encephalopathy 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Epileptic encephalopathy more ...	ClinVar	PMID:17641262 more ...
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:19439424 more ...
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:21496008 more ...
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:18414213 and PMID:28492532
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16235064 more ...
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:17641262 more ...
LOC109610631	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 29	ClinVar	PMID:18414213 and PMID:28492532
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 29	ClinVar	PMID:17641262 more ...
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 29	ClinVar	PMID:25741868 and PMID:28492532
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 29	ClinVar
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Mental retardation and X-linked 52	ClinVar	PMID:10353782 more ...
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 29	ClinVar	PMID:16235064 more ...
LOC109610631	Human	non-syndromic X-linked intellectual disability ARX-related		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER and X-LINKED 29	ClinVar	PMID:28492532
LOC109610631	Human	Partington syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Partington syndrome	ClinVar	PMID:10353782 more ...
LOC109610631	Human	X-linked lissencephaly 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia	ClinVar	PMID:12379852
LOC109610631	Human	X-linked lissencephaly 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia	ClinVar	PMID:25741868
LOC109610631	Human	X-linked lissencephaly 2		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia	ClinVar	PMID:18414213
LOC109610631	Human	X-linked lissencephaly 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia	ClinVar	PMID:11889467 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC109610631	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311

PMID:11889467	PMID:11971879	PMID:12376946	PMID:12874418	PMID:14722918	PMID:15199382	PMID:15533998	PMID:17480217	PMID:17664401	PMID:17668384	PMID:18462864	PMID:19587282
PMID:21204215	PMID:22628459	PMID:25171319

Variants in LOC109610631
138 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_139058.3(ARX):c.336_338del (p.Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV001348800]	ChrX:25013657..25013659 [GRCh38] ChrX:25031774..25031776 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.463_465del (p.Ala155del)	deletion	not provided [RCV001708102]	ChrX:25013530..25013532 [GRCh38] ChrX:25031647..25031649 [GRCh37] ChrX:Xp21.3	benign
NM_139058.3(ARX):c.461C>T (p.Ala154Val)	single nucleotide variant	not provided [RCV003314836]	ChrX:25013534 [GRCh38] ChrX:25031651 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.456C>G (p.Ala152=)	single nucleotide variant	not provided [RCV003312760]	ChrX:25013539 [GRCh38] ChrX:25031656 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)	microsatellite	not provided [RCV001576923]	ChrX:25013659..25013660 [GRCh38] ChrX:25031776..25031777 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002072935]\|not provided [RCV001621834]	ChrX:25013544..25013567 [GRCh38] ChrX:25031661..25031684 [GRCh37] ChrX:Xp21.3	benign\|likely benign
NM_139058.3(ARX):c.337_338insGCG (p.Ala112_Ala113insGly)	insertion	not provided [RCV001560374]	ChrX:25013657..25013658 [GRCh38] ChrX:25031774..25031775 [GRCh37] ChrX:Xp21.3	likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)	microsatellite	ARX-related disorder [RCV003900017]\|Developmental and epileptic encephalopathy, 1 [RCV000537872]\|Inborn genetic diseases [RCV002455920]\|not provided [RCV001712445]	ChrX:25013659..25013660 [GRCh38] ChrX:25031776..25031777 [GRCh37] ChrX:Xp21.3	likely benign\|uncertain significance
NM_139058.3(ARX):c.336A>G (p.Ala112=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001082850]\|not provided [RCV000175971]	ChrX:25013659 [GRCh38] ChrX:25031776 [GRCh37] ChrX:Xp21.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
NM_139058.3(ARX):c.447G>C (p.Ala149=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001089020]\|Inborn genetic diseases [RCV002328787]\|not provided [RCV000353204]	ChrX:25013548 [GRCh38] ChrX:25031665 [GRCh37] ChrX:Xp21.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.409G>A (p.Glu137Lys)	single nucleotide variant	Inborn genetic diseases [RCV002313110]\|not provided [RCV000434632]	ChrX:25013586 [GRCh38] ChrX:25031703 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.454G>A (p.Ala152Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000650175]\|Inborn genetic diseases [RCV002514786]\|not provided [RCV000145057]	ChrX:25013541 [GRCh38] ChrX:25031658 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000011936]\|Developmental and epileptic encephalopathy, 1 [RCV000456891]\|Developmental and epileptic encephalopathy, 1 [RCV004795391]\|Inborn genetic diseases [RCV002316190]\|Intellectual disability, X-linked, with or without seizures, arx-related [RCV003323356]\|West syndrome [RCV003488334]\|X-linked lissencephaly with abnormal genitalia [RCV000193540]\|not provided [RCV000399003]	ChrX:25013659..25013660 [GRCh38] ChrX:25031776..25031777 [GRCh37] ChrX:Xp21.3	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV000650178]	ChrX:25013654..25013674 [GRCh38] ChrX:25031771..25031791 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.306G>T (p.Ala102=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001087726]\|Inborn genetic diseases [RCV002444600]\|epileptic encephalopathy, early infanitle, 1 [RCV000145052]\|not provided [RCV000734606]	ChrX:25013689 [GRCh38] ChrX:25031806 [GRCh37] ChrX:Xp21.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	copy number loss	See cases [RCV000138069]	ChrX:12254555..30410580 [GRCh38] ChrX:12272674..30428697 [GRCh37] ChrX:12182595..30338618 [NCBI36] ChrX:Xp22.2-21.2	pathogenic\|likely pathogenic
NM_139058.3(ARX):c.335_368del (p.Ala112fs)	deletion	X-linked lissencephaly with abnormal genitalia [RCV000145055]	ChrX:25013627..25013660 [GRCh38] ChrX:25031744..25031777 [GRCh37] ChrX:Xp21.3	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
NM_139058.3(ARX):c.300G>A (p.Ala100=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001089016]\|not provided [RCV000725344]\|not specified [RCV000192540]	ChrX:25013695 [GRCh38] ChrX:25031812 [GRCh37] ChrX:Xp21.3	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV000813194]\|Developmental and epileptic encephalopathy, 1 [RCV003883129]\|X-linked lissencephaly with abnormal genitalia [RCV000192670]\|not provided [RCV000082605]	ChrX:25013530..25013531 [GRCh38] ChrX:25031647..25031648 [GRCh37] ChrX:Xp21.3	pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1	copy number loss	See cases [RCV000053063]	ChrX:22420237..38834728 [GRCh38] ChrX:22438354..38693981 [GRCh37] ChrX:22348275..38578925 [NCBI36] ChrX:Xp22.11-11.4	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
NM_139058.3(ARX):c.404C>T (p.Pro135Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002533044]\|Inborn genetic diseases [RCV002316892]	ChrX:25013591 [GRCh38] ChrX:25031708 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_25022767)_(25033874_?)dup	duplication	Developmental and epileptic encephalopathy, 1 [RCV000650193]	ChrX:25004650..25015757 [GRCh38] ChrX:25022767..25033874 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.389C>A (p.Pro130Gln)	single nucleotide variant	not provided [RCV000479507]	ChrX:25013606 [GRCh38] ChrX:25031723 [GRCh37] ChrX:Xp21.3	likely benign\|uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV001034298]	ChrX:25013537..25013557 [GRCh38] ChrX:25031654..25031674 [GRCh37] ChrX:Xp21.3	likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV001214290]\|not provided [RCV000175970]	ChrX:25013659..25013660 [GRCh38] ChrX:25031776..25031777 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV000558205]	ChrX:25013536..25013537 [GRCh38] ChrX:25031653..25031654 [GRCh37] ChrX:Xp21.3	pathogenic
GRCh38/hg38 Xp22.11-21.3(chrX:24249402-25137657)x3	copy number gain	See cases [RCV000143452]	ChrX:24249402..25137657 [GRCh38] ChrX:24267519..25155774 [GRCh37] ChrX:24177440..25065695 [NCBI36] ChrX:Xp22.11-21.3	uncertain significance
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV000463305]\|Inborn genetic diseases [RCV002316276]\|Intellectual disability, X-linked, with or without seizures, arx-related [RCV000011954]\|not provided [RCV001647067]\|not specified [RCV000082604]	ChrX:25013531..25013554 [GRCh38] ChrX:25031648..25031671 [GRCh37] ChrX:Xp21.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139058.3(ARX):c.303A>G (p.Ala101=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001432671]\|Inborn genetic diseases [RCV002444775]\|not provided [RCV001721247]\|not specified [RCV000193562]	ChrX:25013692 [GRCh38] ChrX:25031809 [GRCh37] ChrX:Xp21.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
NM_139058.3(ARX):c.409dup (p.Glu137fs)	duplication	X-linked lissencephaly with abnormal genitalia [RCV000192991]	ChrX:25013585..25013586 [GRCh38] ChrX:25031702..25031703 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV001253636]\|Developmental and epileptic encephalopathy, 1 [RCV001504893]\|Inborn genetic diseases [RCV002317589]\|not provided [RCV000722715]	ChrX:25013530..25013544 [GRCh38] ChrX:25031647..25031661 [GRCh37] ChrX:Xp21.3	likely benign\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000543172]\|Developmental and epileptic encephalopathy, 1 [RCV002483482]	ChrX:25013660..25013677 [GRCh38] ChrX:25031777..25031794 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup)	duplication	X-linked lissencephaly with abnormal genitalia [RCV000193636]	ChrX:25013533..25013534 [GRCh38] ChrX:25031650..25031651 [GRCh37] ChrX:Xp21.3	likely pathogenic
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV000011937]\|Developmental and epileptic encephalopathy, 1 [RCV000700342]\|Intellectual disability, X-linked, with or without seizures, arx-related [RCV001580167]\|Partington syndrome [RCV000033212]\|not provided [RCV000487265]	ChrX:25013543..25013544 [GRCh38] ChrX:25031660..25031661 [GRCh37] ChrX:Xp21.3	pathogenic\|likely pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV001862086]\|Inborn genetic diseases [RCV002318283]\|Intellectual disability, X-linked, with or without seizures, arx-related [RCV003987679]	ChrX:25013545..25013546 [GRCh38] ChrX:25031662..25031663 [GRCh37] ChrX:Xp21.3	pathogenic\|likely pathogenic
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000228763]\|Inborn genetic diseases [RCV002453466]\|not specified [RCV000145053]	ChrX:25013660..25013665 [GRCh38] ChrX:25031777..25031782 [GRCh37] ChrX:Xp21.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000812572]\|Inborn genetic diseases [RCV002444704]\|not provided [RCV000724599]	ChrX:25013660..25013671 [GRCh38] ChrX:25031777..25031788 [GRCh37] ChrX:Xp21.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NC_000023.10:g.(?_25028377)_(25033854_?)dup	duplication	Developmental and epileptic encephalopathy, 1 [RCV000796784]	ChrX:25010260..25015737 [GRCh38] ChrX:25028377..25033854 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.441A>G (p.Ala147=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000650185]\|History of neurodevelopmental disorder [RCV000720962]\|not provided [RCV001711493]\|not specified [RCV000194099]	ChrX:25013554 [GRCh38] ChrX:25031671 [GRCh37] ChrX:Xp21.3	benign\|likely benign\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.351C>A (p.Ala117=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000650184]	ChrX:25013644 [GRCh38] ChrX:25031761 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.441A>C (p.Ala147=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000867206]\|Inborn genetic diseases [RCV002313482]\|not provided [RCV002512127]	ChrX:25013554 [GRCh38] ChrX:25031671 [GRCh37] ChrX:Xp21.3	likely benign
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)	microsatellite	ARX-related disorder [RCV003422032]\|Developmental and epileptic encephalopathy, 1 [RCV000990556]\|Developmental and epileptic encephalopathy, 1 [RCV001081429]\|Inborn genetic diseases [RCV000624905]\|not provided [RCV000152797]\|not specified [RCV000145054]	ChrX:25013659..25013660 [GRCh38] ChrX:25031777..25031779 [GRCh37] ChrX:Xp21.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.11-21.3(chrX:24627016-25321278)x3	copy number gain	See cases [RCV000143527]	ChrX:24627016..25321278 [GRCh38] ChrX:24645133..25339395 [GRCh37] ChrX:24555054..25249316 [NCBI36] ChrX:Xp22.11-21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306G>A (p.Ala102=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002062093]\|Inborn genetic diseases [RCV002317343]\|not provided [RCV000598157]	ChrX:25013689 [GRCh38] ChrX:25031806 [GRCh37] ChrX:Xp21.3	likely benign\|uncertain significance
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000696832]\|not provided [RCV000082606]	ChrX:25013536..25013537 [GRCh38] ChrX:25031653..25031654 [GRCh37] ChrX:Xp21.3	likely pathogenic\|uncertain significance
NM_139058.2(ARX):c.304_305ins21 (p.?)	insertion	X-linked lissencephaly with abnormal genitalia [RCV000194243]	ChrX:25013690..25013691 [GRCh38] ChrX:25031807..25031808 [GRCh37] ChrX:Xp21.3	pathogenic\|likely pathogenic\|uncertain significance
NM_139058.3(ARX):c.398C>T (p.Ala133Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001235081]\|not provided [RCV004727022]	ChrX:25013597 [GRCh38] ChrX:25031714 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
NM_139058.3(ARX):c.428G>C (p.Gly143Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001220243]	ChrX:25013567 [GRCh38] ChrX:25031684 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000798531]\|X-linked lissencephaly with abnormal genitalia [RCV000192640]	ChrX:25013659..25013660 [GRCh38] ChrX:25031776..25031777 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.196+129_1073+903del	deletion	ARX-associated condition [RCV000791289]	ChrX:25012019..25015413 [GRCh38] ChrX:25030136..25033530 [GRCh37] ChrX:Xp21.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	copy number loss	See cases [RCV000143496]	ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
NM_139058.3(ARX):c.449C>T (p.Ala150Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001228236]	ChrX:25013546 [GRCh38] ChrX:25031663 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.318G>C (p.Ala106=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001457390]	ChrX:25013677 [GRCh38] ChrX:25031794 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV000557851]\|Inborn genetic diseases [RCV002448773]\|not provided [RCV001697315]	ChrX:25013660..25013668 [GRCh38] ChrX:25031777..25031785 [GRCh37] ChrX:Xp21.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139058.3(ARX):c.372G>A (p.Glu124=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000867561]	ChrX:25013623 [GRCh38] ChrX:25031740 [GRCh37] ChrX:Xp21.3	likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.348G>A (p.Thr116=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001412684]	ChrX:25013647 [GRCh38] ChrX:25031764 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.368G>T (p.Gly123Val)	single nucleotide variant	Inborn genetic diseases [RCV001266767]	ChrX:25013627 [GRCh38] ChrX:25031744 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV000011953]\|Developmental and epileptic encephalopathy, 1 [RCV001851801]	ChrX:25013653..25013654 [GRCh38] ChrX:25031770..25031771 [GRCh37] ChrX:Xp21.3	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)	microsatellite	ARX-related disorder [RCV003972798]\|Developmental and epileptic encephalopathy, 1 [RCV000471578]\|Inborn genetic diseases [RCV002313230]\|not provided [RCV001704579]\|not specified [RCV001821378]	ChrX:25013660..25013662 [GRCh38] ChrX:25031777..25031779 [GRCh37] ChrX:Xp21.3	benign\|likely benign
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV003765211]\|not specified [RCV000195117]	ChrX:25013530..25013538 [GRCh38] ChrX:25031647..25031655 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000817657]\|Inborn genetic diseases [RCV004958154]	ChrX:25013577 [GRCh38] ChrX:25031694 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV001244937]\|Inborn genetic diseases [RCV002436965]	ChrX:25013678..25013692 [GRCh38] ChrX:25031795..25031809 [GRCh37] ChrX:Xp21.3	likely benign\|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV001009556]\|Developmental and epileptic encephalopathy, 1 [RCV001227606]\|not provided [RCV001766823]	ChrX:25013539..25013540 [GRCh38] ChrX:25031656..25031657 [GRCh37] ChrX:Xp21.3	uncertain significance\|not provided
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.411A>C (p.Glu137Asp)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000809484]	ChrX:25013584 [GRCh38] ChrX:25031701 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
NM_139058.3(ARX):c.303_326dup (p.Ala108_Ala115dup)	duplication	not provided [RCV000482315]	ChrX:25013668..25013669 [GRCh38] ChrX:25031785..25031786 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.304_345dup (p.Ala102_Ala115dup)	duplication	not provided [RCV000484667]	ChrX:25013649..25013650 [GRCh38] ChrX:25031766..25031767 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV001202324]	ChrX:25013529..25013530 [GRCh38] ChrX:25031646..25031647 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
NM_139058.3(ARX):c.453G>C (p.Ala151=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001391684]\|not specified [RCV000614240]	ChrX:25013542 [GRCh38] ChrX:25031659 [GRCh37] ChrX:Xp21.3	likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	copy number loss	See cases [RCV000135551]	ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV001868920]\|not provided [RCV000722506]	ChrX:25013660..25013674 [GRCh38] ChrX:25031777..25031791 [GRCh37] ChrX:Xp21.3	benign\|uncertain significance
NM_139058.3(ARX):c.450C>A (p.Ala150=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV000543512]	ChrX:25013545 [GRCh38] ChrX:25031662 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV000022855]	ChrX:25013533..25013534 [GRCh38] ChrX:25031650..25031651 [GRCh37] ChrX:Xp21.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.346A>G (p.Thr116Ala)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001341990]	ChrX:25013649 [GRCh38] ChrX:25031766 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV001383076]\|Developmental and epileptic encephalopathy, 1 [RCV002290701]\|not provided [RCV001788467]	ChrX:25013671..25013672 [GRCh38] ChrX:25031788..25031789 [GRCh37] ChrX:Xp21.3	pathogenic\|likely pathogenic
NM_139058.3(ARX):c.440C>T (p.Ala147Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001323225]\|Inborn genetic diseases [RCV004960770]	ChrX:25013555 [GRCh38] ChrX:25031672 [GRCh37] ChrX:Xp21.3	likely benign\|uncertain significance
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV001350737]	ChrX:25013530..25013562 [GRCh38] ChrX:25031647..25031679 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.437C>T (p.Ala146Val)	single nucleotide variant	Inborn genetic diseases [RCV004035440]\|Intellectual disability, X-linked, with or without seizures, arx-related [RCV001270894]	ChrX:25013558 [GRCh38] ChrX:25031675 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.379C>T (p.Pro127Ser)	single nucleotide variant	X-linked lissencephaly with abnormal genitalia [RCV001332906]	ChrX:25013616 [GRCh38] ChrX:25031733 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.342C>G (p.Ala114=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001475776]	ChrX:25013653 [GRCh38] ChrX:25031770 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.330G>C (p.Ala110=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001440172]	ChrX:25013665 [GRCh38] ChrX:25031782 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.390G>T (p.Pro130=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001456224]	ChrX:25013605 [GRCh38] ChrX:25031722 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.345C>G (p.Ala115=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001439360]	ChrX:25013650 [GRCh38] ChrX:25031767 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.312G>A (p.Ala104=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001423606]	ChrX:25013683 [GRCh38] ChrX:25031800 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.420C>T (p.Asp140=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001442657]	ChrX:25013575 [GRCh38] ChrX:25031692 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.457G>A (p.Ala153Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001466016]	ChrX:25013538 [GRCh38] ChrX:25031655 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV001465629]	ChrX:25013549..25013554 [GRCh38] ChrX:25031666..25031671 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.327G>A (p.Ala109=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001427747]	ChrX:25013668 [GRCh38] ChrX:25031785 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.315G>A (p.Ala105=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001402492]\|not provided [RCV003438767]	ChrX:25013680 [GRCh38] ChrX:25031797 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002071929]\|not provided [RCV001536811]	ChrX:25013540..25013554 [GRCh38] ChrX:25031657..25031671 [GRCh37] ChrX:Xp21.3	benign
NM_139058.3(ARX):c.406G>A (p.Gly136Arg)	single nucleotide variant	not provided [RCV001794769]	ChrX:25013589 [GRCh38] ChrX:25031706 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala)	indel	Developmental and epileptic encephalopathy, 1 [RCV002020074]	ChrX:25013649..25013650 [GRCh38] ChrX:25031766..25031767 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.389C>T (p.Pro130Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002017843]	ChrX:25013606 [GRCh38] ChrX:25031723 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002019693]\|not specified [RCV003230724]	ChrX:25013654..25013671 [GRCh38] ChrX:25031771..25031788 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.455C>G (p.Ala152Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002038353]	ChrX:25013540 [GRCh38] ChrX:25031657 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV001913988]	ChrX:25013660..25013680 [GRCh38] ChrX:25031777..25031797 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.373G>A (p.Ala125Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001891511]\|not provided [RCV003136271]	ChrX:25013622 [GRCh38] ChrX:25031739 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup)	duplication	Developmental and epileptic encephalopathy, 1 [RCV001929288]	ChrX:25013548..25013549 [GRCh38] ChrX:25031665..25031666 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.430G>T (p.Ala144Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001891312]\|not provided [RCV002281198]	ChrX:25013565 [GRCh38] ChrX:25031682 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.415C>A (p.Pro139Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001947920]	ChrX:25013580 [GRCh38] ChrX:25031697 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.452C>T (p.Ala151Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001899206]	ChrX:25013543 [GRCh38] ChrX:25031660 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.365G>A (p.Arg122His)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001932382]\|not provided [RCV002074429]	ChrX:25013630 [GRCh38] ChrX:25031747 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.421G>A (p.Gly141Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV001910354]\|Inborn genetic diseases [RCV002331453]	ChrX:25013574 [GRCh38] ChrX:25031691 [GRCh37] ChrX:Xp21.3	benign\|uncertain significance
NM_139058.3(ARX):c.361C>A (p.Pro121Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002165933]	ChrX:25013634 [GRCh38] ChrX:25031751 [GRCh37] ChrX:Xp21.3	benign
NM_139058.3(ARX):c.399G>A (p.Ala133=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002168687]	ChrX:25013596 [GRCh38] ChrX:25031713 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002114920]\|Developmental and epileptic encephalopathy, 1 [RCV002254363]	ChrX:25013562 [GRCh38] ChrX:25031679 [GRCh37] ChrX:Xp21.3	benign\|uncertain significance
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002199743]	ChrX:25013549..25013563 [GRCh38] ChrX:25031666..25031680 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.425_456del (p.Ala142fs)	deletion	X-linked lissencephaly with abnormal genitalia [RCV004776554]	ChrX:25013539..25013570 [GRCh38] ChrX:25031656..25031687 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.424_455del (p.Ala142fs)	deletion	X-linked lissencephaly with abnormal genitalia [RCV000011941]	ChrX:25013540..25013571 [GRCh38] ChrX:25031657..25031688 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.370G>T (p.Glu124Ter)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002267683]	ChrX:25013625 [GRCh38] ChrX:25031742 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.412C>A (p.Arg138=)	single nucleotide variant	not provided [RCV002293216]	ChrX:25013583 [GRCh38] ChrX:25031700 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.347C>T (p.Thr116Met)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002304434]	ChrX:25013648 [GRCh38] ChrX:25031765 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.388C>A (p.Pro130Thr)	single nucleotide variant	not provided [RCV002302638]	ChrX:25013607 [GRCh38] ChrX:25031724 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.441A>T (p.Ala147=)	single nucleotide variant	Inborn genetic diseases [RCV002333872]	ChrX:25013554 [GRCh38] ChrX:25031671 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.462G>T (p.Ala154=)	single nucleotide variant	ARX-related disorder [RCV003933754]\|Developmental and epileptic encephalopathy, 1 [RCV003775937]\|Inborn genetic diseases [RCV002330401]	ChrX:25013533 [GRCh38] ChrX:25031650 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.446C>A (p.Ala149Glu)	single nucleotide variant	Inborn genetic diseases [RCV002729876]	ChrX:25013549 [GRCh38] ChrX:25031666 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.435_475del (p.Ala146fs)	deletion	not provided [RCV002512401]	ChrX:25013520..25013560 [GRCh38] ChrX:25031637..25031677 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.432C>T (p.Ala144=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003021869]	ChrX:25013563 [GRCh38] ChrX:25031680 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.300G>C (p.Ala100=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002570988]	ChrX:25013695 [GRCh38] ChrX:25031812 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.357_391del (p.Gly120fs)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002801305]\|Inborn genetic diseases [RCV004064864]	ChrX:25013604..25013638 [GRCh38] ChrX:25031721..25031755 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.312G>T (p.Ala104=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002957739]	ChrX:25013683 [GRCh38] ChrX:25031800 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.378_459del (p.Pro127fs)	deletion	Developmental and epileptic encephalopathy, 1 [RCV003022177]	ChrX:25013536..25013617 [GRCh38] ChrX:25031653..25031734 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.426A>T (p.Ala142=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003084040]	ChrX:25013569 [GRCh38] ChrX:25031686 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)	insertion	Developmental and epileptic encephalopathy, 1 [RCV002644499]	ChrX:25013551..25013552 [GRCh38] ChrX:25031668..25031669 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV002801886]	ChrX:25013537..25013542 [GRCh38] ChrX:25031654..25031659 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.303_305del (p.Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002922077]	ChrX:25013690..25013692 [GRCh38] ChrX:25031807..25031809 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV002629855]	ChrX:25013687..25013692 [GRCh38] ChrX:25031804..25031809 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV002601783]	ChrX:25013547 [GRCh38] ChrX:25031664 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.435C>G (p.Ala145=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003046337]	ChrX:25013560 [GRCh38] ChrX:25031677 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)	microsatellite	Developmental and epileptic encephalopathy, 1 [RCV002814889]	ChrX:25013638..25013639 [GRCh38] ChrX:25031755..25031756 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.445G>C (p.Ala149Pro)	single nucleotide variant	Inborn genetic diseases [RCV002680647]	ChrX:25013550 [GRCh38] ChrX:25031667 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.376C>A (p.Pro126Thr)	single nucleotide variant	not provided [RCV003141549]	ChrX:25013619 [GRCh38] ChrX:25031736 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.395C>T (p.Thr132Ile)	single nucleotide variant	Inborn genetic diseases [RCV003215290]	ChrX:25013600 [GRCh38] ChrX:25031717 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	copy number gain	Polymicrogyria [RCV003327710]	ChrX:23730430..32849918 [GRCh38] ChrX:Xp22.11-21.1	pathogenic
NM_139058.3(ARX):c.462G>A (p.Ala154=)	single nucleotide variant	not provided [RCV003441142]	ChrX:25013533 [GRCh38] ChrX:25031650 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.367G>A (p.Gly123Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV005216127]\|not provided [RCV003480404]	ChrX:25013628 [GRCh38] ChrX:25031745 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.451_464del (p.Ala151fs)	deletion	Developmental and epileptic encephalopathy, 1 [RCV003486493]	ChrX:25013531..25013544 [GRCh38] ChrX:25031648..25031661 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.354G>A (p.Thr118=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003783296]	ChrX:25013641 [GRCh38] ChrX:25031758 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.303A>C (p.Ala101=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003794177]	ChrX:25013692 [GRCh38] ChrX:25031809 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)	duplication	Developmental and epileptic encephalopathy, 1 [RCV003797542]	ChrX:25013656..25013657 [GRCh38] ChrX:25031773..25031774 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV003797676]	ChrX:25013546..25013554 [GRCh38] ChrX:25031663..25031671 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.453G>A (p.Ala151=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003784170]	ChrX:25013542 [GRCh38] ChrX:25031659 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.409del (p.Glu137fs)	deletion	Developmental and epileptic encephalopathy, 1 [RCV003782902]	ChrX:25013586 [GRCh38] ChrX:25031703 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.462G>C (p.Ala154=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003806682]	ChrX:25013533 [GRCh38] ChrX:25031650 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.446C>T (p.Ala149Val)	single nucleotide variant	not provided [RCV003490480]	ChrX:25013549 [GRCh38] ChrX:25031666 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV003805026]	ChrX:25013684..25013692 [GRCh38] ChrX:25031801..25031809 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.414G>T (p.Arg138=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003787911]	ChrX:25013581 [GRCh38] ChrX:25031698 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.363A>G (p.Pro121=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003790090]	ChrX:25013632 [GRCh38] ChrX:25031749 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.387A>C (p.Pro129=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003795164]	ChrX:25013608 [GRCh38] ChrX:25031725 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.442G>C (p.Ala148Pro)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003795186]	ChrX:25013553 [GRCh38] ChrX:25031670 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.306G>C (p.Ala102=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003791358]	ChrX:25013689 [GRCh38] ChrX:25031806 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.311C>T (p.Ala104Val)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003785372]	ChrX:25013684 [GRCh38] ChrX:25031801 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.333G>C (p.Ala111=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003787612]	ChrX:25013662 [GRCh38] ChrX:25031779 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.450C>T (p.Ala150=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003782428]	ChrX:25013545 [GRCh38] ChrX:25031662 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV003787418]	ChrX:25013654..25013659 [GRCh38] ChrX:25031771..25031776 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.426A>C (p.Ala142=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003789631]	ChrX:25013569 [GRCh38] ChrX:25031686 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.456C>A (p.Ala152=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003800391]	ChrX:25013539 [GRCh38] ChrX:25031656 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.414G>A (p.Arg138=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003799507]	ChrX:25013581 [GRCh38] ChrX:25031698 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.432C>G (p.Ala144=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003808256]	ChrX:25013563 [GRCh38] ChrX:25031680 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.324G>A (p.Ala108=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003812757]	ChrX:25013671 [GRCh38] ChrX:25031788 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.416C>T (p.Pro139Leu)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003810046]	ChrX:25013579 [GRCh38] ChrX:25031696 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.312G>C (p.Ala104=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003815663]	ChrX:25013683 [GRCh38] ChrX:25031800 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.437C>G (p.Ala146Gly)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003799186]	ChrX:25013558 [GRCh38] ChrX:25031675 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.333G>T (p.Ala111=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV003803302]	ChrX:25013662 [GRCh38] ChrX:25031779 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.456C>T (p.Ala152=)	single nucleotide variant	ARX-related disorder [RCV003981283]	ChrX:25013539 [GRCh38] ChrX:25031656 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.396C>A (p.Thr132=)	single nucleotide variant	ARX-related disorder [RCV003949487]	ChrX:25013599 [GRCh38] ChrX:25031716 [GRCh37] ChrX:Xp21.3	likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_139058.3(ARX):c.306GGC[16] (p.Ala115_Thr116insAlaAlaAlaAlaAlaAla)	microsatellite	not provided [RCV004588950]	ChrX:25013659..25013660 [GRCh38] ChrX:25031776..25031777 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.419_454del (p.Asp140_Ala151del)	deletion	Developmental and epileptic encephalopathy, 1 [RCV005221061]\|not provided [RCV004779704]	ChrX:25013541..25013576 [GRCh38] ChrX:25031658..25031693 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.346_352delinsGCGGCAG (p.Thr116_Thr118delinsAlaAlaAla)	indel	not provided [RCV004778067]	ChrX:25013643..25013649 [GRCh38] ChrX:25031760..25031766 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.457del (p.Ala153fs)	deletion	Developmental and epileptic encephalopathy, 1 [RCV004766949]	ChrX:25013538 [GRCh38] ChrX:25031655 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.387A>G (p.Pro129=)	single nucleotide variant	ARX-related disorder [RCV004753985]	ChrX:25013608 [GRCh38] ChrX:25031725 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.422_454dup (p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaAla)	duplication	Developmental and epileptic encephalopathy, 1 [RCV005215275]	ChrX:25013540..25013541 [GRCh38] ChrX:25031657..25031658 [GRCh37] ChrX:Xp21.3	pathogenic
NM_139058.3(ARX):c.375C>G (p.Ala125=)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV005226261]	ChrX:25013620 [GRCh38] ChrX:25031737 [GRCh37] ChrX:Xp21.3	likely benign
NM_139058.3(ARX):c.427G>A (p.Gly143Arg)	single nucleotide variant	Developmental and epileptic encephalopathy, 1 [RCV005211078]	ChrX:25013568 [GRCh38] ChrX:25031685 [GRCh37] ChrX:Xp21.3	uncertain significance
NM_139058.3(ARX):c.451_465dup (p.Ala155_Trp156insAlaAlaAlaAlaAla)	duplication	Developmental and epileptic encephalopathy, 1 [RCV005225932]	ChrX:25013529..25013530 [GRCh38] ChrX:25031646..25031647 [GRCh37] ChrX:Xp21.3	uncertain significance
Single allele	inversion	Duchenne muscular dystrophy [RCV005229750]	ChrX:23308848..32004110 [GRCh38] ChrX:Xp22.11-21.1	pathogenic
Single allele	inversion	Duchenne muscular dystrophy [RCV005229749]	ChrX:17398320..32130845 [GRCh38] ChrX:Xp22.2-21.1	pathogenic
NM_139058.3(ARX):c.303_341dup (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	duplication	Developmental and epileptic encephalopathy, 1 [RCV005220334]	ChrX:25013653..25013654 [GRCh38] ChrX:25031770..25031771 [GRCh37] ChrX:Xp21.3	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	copy number loss	See cases [RCV000135299]	ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1	pathogenic

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RefSeq Transcripts	NG_052655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC002504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC109610631	COSMIC
GTEx	LOC109610631	GTEx
Human Proteome Map	LOC109610631	Human Proteome Map
NCBI Gene	LOC109610631	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

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