Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Insertion (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 10 | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 10 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (missense variant) | Inflammatory bowel disease, immunodeficiency, and encephalopathy +4 more | |
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