| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058360, LOC130058361 +66 more | Deletion | Rubinstein-Taybi syndrome | |
| | | Copy number loss | See cases | |
| | LOC130058361, LOC130058362 +10 more | Deletion | Secondary microcephaly +5 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Nephronophthisis 7 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | GLIS2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (splice acceptor variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | GLIS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (intron variant) | GLIS2-related disorder | |
| | | Microsatellite (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis 7 | |
| | | Single nucleotide variant (nonsense) | not provided | |