| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Multiple gastrointestinal atresias +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nemaline myopathy 2 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Emery-Dreifuss muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Genitopatellar syndrome | |
| | KCNMA1, KCNMA1-AS1 (M593V +6 more) | Single nucleotide variant (missense variant) | Generalized epilepsy-paroxysmal dyskinesia syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Beare-Stevenson cutis gyrata syndrome +11 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862264, MEFV (M694V) | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Recurrent fever +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |