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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARX
(A77T)
Single nucleotide variant
(missense variant)
Partington syndrome
+4 more
GUncertain significance
ARX
(M1R)
Single nucleotide variant
(missense variant +1 more)
Corpus callosum agenesis-abnormal genitalia syndrome
GPathogenic
ARX
Deletion
(splice acceptor variant)
Corpus callosum agenesis-abnormal genitalia syndrome
GPathogenic
ARX
(R332G)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with or without seizures, arx-related
+4 more
GPathogenic/Likely pathogenic
ARX
(G316fs)
Deletion
(frameshift variant)
Corpus callosum agenesis-abnormal genitalia syndrome
GPathogenic
ARX, LOC109610631
Duplication
(inframe_insertion)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
ARX
(S531fs)
Deletion
(frameshift variant)
Corpus callosum agenesis-abnormal genitalia syndrome
GLikely pathogenic
ARX
(L484F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
ARX
(A63T)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with or without seizures, arx-related
+6 more
GConflicting classifications of pathogenicity
ARX, LOC109610631
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 1
+4 more
GUncertain significance
ARX
(K538E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ARX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
ARX
(R87P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+4 more
GUncertain significance
ARX
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+6 more
GBenign/Likely benign
ARX, LOC109610631
Duplication
(inframe_insertion)
Intellectual disability, X-linked, with or without seizures, arx-related
+5 more
GPathogenic
ARX
(T333N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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