| | LOC130004555, LOC130004556 +375 more | Copy number loss | See cases | |
| | LOC130004500, LOC130004501 +821 more | Copy number gain | See cases | |
| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | PAX2-related disorder | |
| | | Single nucleotide variant (intron variant) | Renal coloboma syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PAX2-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PAX2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Renal coloboma syndrome | |
| | | 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 | |
| | | Duplication (intron variant) | Renal coloboma syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Microsatellite (genic downstream transcript variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PAX2-related disorder | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Renal coloboma syndrome +2 more | |
| | | Duplication (frameshift variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Deletion (frameshift variant) | Focal segmental glomerulosclerosis 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (synonymous variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Deletion (frameshift variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | PAX2-related disorder | |
| | | Deletion (frameshift variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (nonsense) | PAX2-related disorder | |
| | | Deletion (frameshift variant) | Renal coloboma syndrome +1 more | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Focal segmental glomerulosclerosis 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |