Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | Gno classifications from unflagged records |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | Gno classifications from unflagged records |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures +1 more | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | Gno classifications from unflagged records |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, ataxia, and seizures | Gno classifications from unflagged records |
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