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Results: 7

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatalPathogenic/Likely pathogenic
(Sep 11, 2013)
classified by single submitter
2.
TUBGCP6Microcephaly with chorioretinopathy, autosomal recessivePathogenic/Likely pathogenic
(Feb 29, 2012)
classified by single submitter2250217738
3.
SNIP1Psychomotor retardation, epilepsy, and craniofacial dysmorphismPathogenic/Likely pathogenic
(Mar 5, 2012)
classified by single submitter137537842
4.
CRADDMental retardation, autosomal recessive 34Pathogenic/Likely pathogenic
(Mar 5, 2012)
classified by single submitter1293850053
5.
HARSUsher syndrome, type 3BPathogenic/Likely pathogenic
(Jul 26, 2013)
classified by single submitter5140674776
6.
SLC6A3Infantile Parkinsonism-dystoniaPathogenic/Likely pathogenic
(Feb 10, 2014)
classified by single submitter51411242
7.
FLVCR1Posterior column ataxia with retinitis pigmentosaPathogenic/Likely pathogenic
(Feb 20, 2014)
classified by single submitter1212858813

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