Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion +1 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (nonsense +1 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Lissencephaly 8 | |
| | | Duplication (frameshift variant +1 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Lissencephaly 8 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Insertion (frameshift variant +1 more) | Lissencephaly 8 | |
| | | Single nucleotide variant (nonsense +1 more) | Lissencephaly 8 | |
| | | Deletion (frameshift variant +1 more) | Lissencephaly 8 | |
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