| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | KCNN3-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Microsatellite (inframe_deletion) | not specified +1 more | |
| | | Microsatellite (inframe_insertion) | Inborn genetic diseases +1 more | |
| | | Microsatellite (inframe_insertion) | not specified +1 more | |
| | | Microsatellite (inframe_deletion) | not specified +1 more | |
| | | Microsatellite (inframe_deletion) | not specified | |
| | | Insertion (inframe_insertion) | not specified | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Single nucleotide variant (intron variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided +2 more | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Zimmermann-laband syndrome 3 | |
| | | Microsatellite (inframe_insertion) | KCNN3-related disorder +2 more | |
| | | Inversion | Pediatric metastatic thyroid tumour | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (inframe_insertion) | not specified | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Zimmermann-laband syndrome 3 +2 more | |