| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, moderate +4 more | |
| | | Duplication (frameshift variant) | Cardiomyopathy +3 more | |
| | | | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | Diabetes mellitus +5 more | |
| | | Microsatellite (nonsense) | Hypertensive disorder +10 more | |
| | | Single nucleotide variant (missense variant) | CELA2A-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Abdominal obesity-metabolic syndrome 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Abdominal obesity-metabolic syndrome 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Abdominal obesity-metabolic syndrome 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 5 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MYH9-related disorder +10 more | |
| | | Single nucleotide variant (missense variant) | Myopia +8 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Obesity +9 more | |
| | | | Autosomal recessive Alport syndrome | |
| | PKD1, PKD1-AS1 (W3842R +1 more) | Single nucleotide variant (missense variant) | Polycystic kidney disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +9 more | |
| | | Deletion (splice donor variant +1 more) | Diabetes mellitus +5 more | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertensive disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Hypertensive disorder +3 more | |
| | LOC129992813, PKD2 (P120fs) | Indel (frameshift variant +1 more) | Polycystic kidney disease +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Benign familial hematuria +8 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +13 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | not specified +2 more | |
| | GBA1, LOC106627981 (E365K +5 more) | Single nucleotide variant (missense variant) | Gaucher disease type I | |
| | | Single nucleotide variant (missense variant) | Angioedema +4 more | |
| | | Single nucleotide variant (splice donor variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more | |
| | | Indel (intron variant) | Cerebral cortical atrophy +14 more | |