| | | Indel (frameshift variant +1 more) | Harel-Yoon syndrome +1 more | |
| | | Copy number loss | Harel-Yoon syndrome +1 more | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Indel (missense variant) | Harel-Yoon syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (nonsense) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +2 more | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Single nucleotide variant (nonsense) | Harel-Yoon syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Harel-Yoon syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome +2 more | |
| | | Deletion (splice acceptor variant +1 more) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Deletion | Harel-Yoon syndrome | |
| | | Microsatellite (inframe_deletion) | Harel-Yoon syndrome | |
| | | Deletion (frameshift variant) | Harel-Yoon syndrome | |
| | | Duplication (frameshift variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Harel-Yoon syndrome | |
| | | Copy number loss | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +2 more | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Harel-Yoon syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Harel-Yoon syndrome +2 more | |
| | | Deletion (frameshift variant +1 more) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Harel-Yoon syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | GPathogenic/Likely pathogenic |