Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (nonsense +1 more) | Mitochondrial DNA depletion syndrome 11 | |
| | MGME1, LOC126862983 (T68S) | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 11 | |
| | LOC126862983, MGME1 (S19del) | Deletion (inframe_deletion) | Mitochondrial DNA depletion syndrome 11 +1 more | |
| | LOC126862983, MGME1 (P81R) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | LOC126862983, MGME1 (P120fs) | Deletion (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 11 | |
| | LOC126862983, MGME1 (S15C) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 11 | |
| | LOC126862983, MGME1 (W152*) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 11 | |
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