| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | MCPH1, MCPH1-AS1 (R659H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | MCPH1, MCPH1-AS1 (D758N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | MCPH1, MCPH1-AS1 (A761V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | MCPH1, MCPH1-AS1 (V779I +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | MCPH1, MCPH1-AS1 (P799S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | MCPH1, MCPH1-AS1 (P828S +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
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