Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome 2 | |
| | | Single nucleotide variant (nonsense) | Meier-Gorlin syndrome 2 | |
| | | Duplication (intron variant) | Meier-Gorlin syndrome 2 +1 more | |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Meier-Gorlin syndrome 2 | |
| | | Deletion (frameshift variant) | Meier-Gorlin syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meier-Gorlin syndrome 2 +2 more | |
| | | Deletion | Meier-Gorlin syndrome 2 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
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