Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice acceptor variant +1 more) | Glycine N-methyltransferase deficiency | |
| | CNPY3-GNMT, GNMT (N141S +2 more) | Single nucleotide variant (missense variant +1 more) | Glycine N-methyltransferase deficiency | |
| | CNPY3-GNMT, GNMT (H177N +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Glycine N-methyltransferase deficiency | |
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