Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLDN14, CLDN14-AS1 (N39del) | Deletion (inframe_deletion) | Vein of Galen aneurysmal malformation | |
| | | Single nucleotide variant (missense variant) | Vein of Galen aneurysmal malformation | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (nonsense) | Vein of Galen aneurysmal malformation | |
| | | Single nucleotide variant (missense variant) | Vein of Galen aneurysmal malformation | |
| | CLDN14, CLDN14-AS1 (A113P) | Single nucleotide variant (missense variant) | Vein of Galen aneurysmal malformation | |
| | CLDN14, CLDN14-AS1 (V143M) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation 2 +1 more | |
| | | Microsatellite (frameshift variant) | Vein of Galen aneurysmal malformation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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