| | | Copy number gain | See cases | |
| | LOC126805903, LOC126805904
+776 more | Copy number gain | See cases | |
| | ADAMTS4, ALDH9A1
+371 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129931815, LOC129931816
+151 more | Copy number loss | See cases | |
| | LOC129931873, LOC129931874
+408 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication (frameshift variant +1 more) | PBX1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (nonsense +1 more) | PBX1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Duplication (frameshift variant +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Insertion (intron variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (synonymous variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PBX1-related disorder | |
| | | Duplication (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Duplication (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (synonymous variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | PBX1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Deletion (inframe_deletion) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (nonsense) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (nonsense) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Duplication (frameshift variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | PBX1-related intellectual disability and pleiotropic developmental defects | |
| | | Single nucleotide variant (splice donor variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (intron variant) | PBX1-related disorder | |
| | | Single nucleotide variant (intron variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | |