| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 40 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | CCDC88C-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Duplication (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (intron variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (synonymous variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Deletion (frameshift variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrocephaly +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spinocerebellar ataxia type 40 +3 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Deletion (frameshift variant) | Congenital hydrocephalus | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |