| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Deletion | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (splice donor variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Indel (frameshift variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Deletion (frameshift variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (intron variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Insertion (frameshift variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (splice donor variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MPDZ-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Congenital hydrocephalus +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Deletion (frameshift variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Medium-chain acyl-coenzyme A dehydrogenase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | Hydrocephalus, nonsyndromic, autosomal recessive 2 | |