Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Microsatellite (3 prime UTR variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | GRIK2-related neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 6 +2 more | |
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