| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MCPH1-AS1, MCPH1 (P657R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | MCPH1, MCPH1-AS1 (G753R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | MCPH1, MCPH1-AS1 (S765W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | MCPH1-AS1, MCPH1 (E684K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | MCPH1, MCPH1-AS1 (R785W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | MCPH1, MCPH1-AS1 (R692Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | MCPH1, MCPH1-AS1 (A713V +1 more) | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | MCPH1, MCPH1-AS1 (H868Q +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MCPH1, MCPH1-AS1 (L833F +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
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