Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (intron variant) | Transketolase deficiency | |
| | | Single nucleotide variant (intron variant) | Transketolase deficiency | |
| | | Single nucleotide variant (intron variant) | Transketolase deficiency | |
| | | Single nucleotide variant (intron variant) | Transketolase deficiency | |
| | | Single nucleotide variant (intron variant) | Transketolase deficiency | |
| | | Single nucleotide variant (intron variant) | Transketolase deficiency | |
| | LOC126806684, TKT (E522K +1 more) | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_indel +1 more) | Transketolase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Transketolase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Transketolase deficiency | |
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