| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | ATP1A1, ATP1A1-AS1 (D570F +1 more) | Indel (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | ATP1A1, ATP1A1-AS1 (A566T +1 more) | Single nucleotide variant (missense variant) | Charcot-marie-tooth disease, axonal, type 2DD +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +4 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary motor and sensory, type 6A +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Copy number loss | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +3 more | |
| | ATP1A1, ATP1A1-AS1 (D811A +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2A2 +1 more | GConflicting classifications of pathogenicity |
| | ATP1A1, ATP1A1-AS1 (I592T +1 more) | Single nucleotide variant (missense variant) | Charcot-marie-tooth disease, axonal, type 2DD +1 more | GPathogenic/Likely pathogenic |
| | ATP1A1, ATP1A1-AS1 (P600T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ATP1A1-AS1, ATP1A1 (P600A +1 more) | Single nucleotide variant (missense variant) | Charcot-marie-tooth disease, axonal, type 2DD | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +2 more | |
| | | | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 +6 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Hereditary motor and sensory neuropathy with optic atrophy +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +7 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2Q | |
| | | Single nucleotide variant (nonsense) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | 2-aminoadipic 2-oxoadipic aciduria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tip-toe gait +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +21 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more | GPathogenic/Likely pathogenic |