| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MCM3AP, MCM3AP-AS1 (Q1841*) | Single nucleotide variant (non-coding transcript variant +1 more) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | |
| | MCM3AP, MCM3AP-AS1 (W1741L) | Single nucleotide variant (missense variant) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more | |
| | MCM3AP, MCM3AP-AS1 (K1430T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 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 | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more | |
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