U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 15

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:25031883
GRCh38:
ChrX:25013766
ARXA77TPartington syndrome, Developmental and epileptic encephalopathy, 1, Corpus callosum agenesis-abnormal genitalia syndrome,
Intellectual disability, X-linked, with or without seizures, arx-related, X-linked lissencephaly with abnormal genitalia
Uncertain significance
(Aug 18, 2022)
criteria provided, single submitter
2.
GRCh37:
ChrX:25033853
GRCh38:
ChrX:25015736
ARXM1RCorpus callosum agenesis-abnormal genitalia syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
3.
GRCh37:
ChrX:25023023-25023035
GRCh38:
ChrX:25004906-25004918
ARXCorpus callosum agenesis-abnormal genitalia syndromePathogenic
(May 4, 2022)
criteria provided, single submitter
4.
GRCh37:
ChrX:25031118
GRCh38:
ChrX:25013001
ARXR332GIntellectual disability, X-linked, with or without seizures, arx-related, X-linked lissencephaly with abnormal genitalia, Developmental and epileptic encephalopathy, 1,
Corpus callosum agenesis-abnormal genitalia syndrome, Partington syndrome, Intellectual disability, X-linked, with or without seizures, arx-related,
Developmental and epileptic encephalopathy, 1
Likely pathogenic
(May 23, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
ChrX:25031165
GRCh38:
ChrX:25013048
ARXG316fsCorpus callosum agenesis-abnormal genitalia syndromePathogenic
(Mar 6, 2021)
criteria provided, single submitter
6.
GRCh37:
ChrX:25031656-25031657
GRCh38:
ChrX:25013539-25013540
ARX, LOC109610631Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related, not provided
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
ChrX:25022856-25022883
GRCh38:
ChrX:25004739-25004766
ARXS531fsCorpus callosum agenesis-abnormal genitalia syndrome, Developmental and epileptic encephalopathy, 1Likely pathogenic
(May 4, 2022)
criteria provided, single submitter
8.
GRCh37:
ChrX:25023026
GRCh38:
ChrX:25004909
ARXL484FIntellectual disability, X-linked, with or without seizures, arx-related, Corpus callosum agenesis-abnormal genitalia syndrome, X-linked lissencephaly with abnormal genitalia,
Developmental and epileptic encephalopathy, 1, Partington syndrome, Inborn genetic diseases
Uncertain significance
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
ChrX:25033668
GRCh38:
ChrX:25015551
ARXA63Tnot specified, Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1,
not provided, Intellectual disability, X-linked, with or without seizures, arx-related, X-linked lissencephaly with abnormal genitalia,
Developmental and epileptic encephalopathy, 1, Corpus callosum agenesis-abnormal genitalia syndrome, Partington syndrome
Conflicting interpretations of pathogenicity
(Mar 22, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
ChrX:25031777-25031794
GRCh38:
ChrX:25013660-25013677
ARX, LOC109610631Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related,
Partington syndrome, Developmental and epileptic encephalopathy, 1, X-linked lissencephaly with abnormal genitalia,
Corpus callosum agenesis-abnormal genitalia syndrome
Uncertain significance
(Feb 4, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
ChrX:25022864
GRCh38:
ChrX:25004747
ARXK538Enot provided, Corpus callosum agenesis-abnormal genitalia syndromePathogenic/Likely pathogenic
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
ChrX:25025506
GRCh38:
ChrX:25007389
ARXnot provided, X-linked lissencephaly with abnormal genitalia, Corpus callosum agenesis-abnormal genitalia syndrome,
Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1, Partington syndrome,
Intellectual disability, X-linked, with or without seizures, arx-related, Developmental and epileptic encephalopathy, 1, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Jul 14, 2023)
criteria provided, conflicting interpretations
13.
GRCh37:
ChrX:25031852
GRCh38:
ChrX:25013735
ARXR87PDevelopmental and epileptic encephalopathy, 1, Partington syndrome, Corpus callosum agenesis-abnormal genitalia syndrome,
Intellectual disability, X-linked, with or without seizures, arx-related, X-linked lissencephaly with abnormal genitalia
Uncertain significance
(Sep 16, 2021)
criteria provided, single submitter
14.
GRCh37:
ChrX:25031305
GRCh38:
ChrX:25013188
ARXInborn genetic diseases, Corpus callosum agenesis-abnormal genitalia syndrome, Partington syndrome,
Developmental and epileptic encephalopathy, 1, X-linked lissencephaly with abnormal genitalia, Intellectual disability, X-linked, with or without seizures, arx-related,
not specified, Developmental and epileptic encephalopathy, 1, Intellectual disability, X-linked, with or without seizures, arx-related
Benign/Likely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrX:25031114
GRCh38:
ChrX:25012997
ARXT333Nnot providedPathogenic
(Feb 8, 2013)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination