Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (intron variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (missense variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (nonsense) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (splice donor variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (intron variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (missense variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (intron variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Single nucleotide variant (missense variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Duplication (frameshift variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
| | | Deletion (frameshift variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome +1 more | |
| | | Deletion (inframe_deletion) | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | |
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