| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4G +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hemolytic anemia due to hexokinase deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Hemolytic anemia due to hexokinase deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 79 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4G | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4G +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | HK1-related condition +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 4G | |
| | | Single nucleotide variant (intron variant) | Hemolytic anemia due to hexokinase deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4G +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 4G +5 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 79 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 79 +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4G | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |