| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MYRF-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Deletion (splice acceptor variant +1 more) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Heart, malformation of +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | Disorder of sexual differentiation | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Indel (frameshift variant) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiac-urogenital syndrome +1 more | |
| | | 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) | MYRF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | 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) | MYRF-related disorder | |
| | | Deletion (frameshift variant) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (nonsense) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiac-urogenital syndrome | |
| | | Duplication (frameshift variant) | Non-immune hydrops fetalis +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cardiac-urogenital syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Deletion (splice acceptor variant +1 more) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Scimitar syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | MYRF-related disorder | |
| | | Duplication (intron variant) | MYRF-related disorder | |
| | | Single nucleotide variant (intron variant) | MYRF-related disorder | |
| | | Single nucleotide variant (intron variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Heart, malformation of +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | |
| | | Single nucleotide variant (missense variant) | Heart, malformation of +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYRF-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Cardiac-urogenital syndrome | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | MYRF-related disorder | |