| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +4 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital muscular hypertrophy-cerebral syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital muscular hypertrophy-cerebral syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital muscular hypertrophy-cerebral syndrome +1 more | |