| | PAX6_HS3, PAX6_HS8 +334 more | Copy number loss | See cases | |
| | LOC129390275, LOC129390276 +255 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meacham syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Wilms tumor 1 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meacham syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meacham syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Wilms tumor 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Drash syndrome +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Wilms tumor 1 +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +9 more | |
| | | Single nucleotide variant (intron variant) | Frasier syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Wilms tumor 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Kidney disorder +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Drash syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +9 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Wilms tumor 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +8 more | |
| | | Single nucleotide variant (nonsense +1 more) | Wilms tumor 1 +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial idiopathic steroid-resistant nephrotic syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Aniridia 1 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Drash syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Drash syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Frasier syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Meacham syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Drash syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Nephrotic syndrome, type 4 +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | Wilms tumor 1 +4 more | |
| | | Single nucleotide variant (nonsense +2 more) | Wilms tumor 1 +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +10 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Wilms tumor 1 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +9 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Wilms tumor 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Wilms tumor 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Wilms tumor 1 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Drash syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Drash syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +8 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Wilms tumor 1 +4 more | |
| | | Single nucleotide variant (intron variant) | Drash syndrome +6 more | GConflicting classifications of pathogenicity |