NG_008281.1:g.13560C>T NC_000023.11:g.25007389G>A NC_000023.10:g.25025506G>A NP_620689.1:p.Gly390=
NM_139058.3:c.1170C>T NM_139058.2:c.1170C>T More...
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10/31/2018 |
synonymous variant |
likely benign|uncertain significance |
ACC with abnormal genitalia; Corpus callosum agenesis-abnormal genitalia syndrome; Epileptic encephalopathy, early infantile, 1; INFANTILE SPASM SYNDROME, X-LINKED 1; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; Intellectual disability, X-linked, with or without seizures, arx-related; Lissencephaly 2, X-linked; MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; MENTAL RETARDATION, X-LINKED 36; MENTAL RETARDATION, X-LINKED 38; MENTAL RETARDATION, X-LINKED 43; Mental retardation, X-linked 52; MENTAL RETARDATION, X-LINKED 76; MENTAL RETARDATION, X-LINKED 87; Mental retardation, X-linked, syndromic 1; Mental retardation, X-linked, with dystonic movements, ataxia, and seizures; Mental retardation-dystonic movements-ataxia-seizures syndrome; New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; none provided; OHTAHARA SYNDROME, X-LINKED; Partington syndrome; Partington X-linked mental retardation syndrome; Proud Levine Carpenter syndrome; Proud syndrome; Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; West's syndrome; X-Linked Infantile Spasm Syndrome; X-linked infantile spasms; X-linked lissencephaly with abnormal genitalia |