| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MCM3AP-AS1, MCM3AP (T1944M) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | MCM3AP, MCM3AP-AS1 (G1733C) | Single nucleotide variant (missense variant) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more | |
| | MCM3AP, MCM3AP-AS1 (D1402N) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
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