| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC130002043, LOC130002044 +1072 more | Copy number gain | See cases | |
| | LOC126860637, LOC126860638 +1188 more | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Neuropathy, hereditary sensory and autonomic, type 1A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 1A +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 +3 more | |
| | | Microsatellite (frameshift variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood onset hearing loss +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 1A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Microsatellite (inframe_deletion) | Hereditary sensory and autonomic neuropathy type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 +4 more | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Deletion (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth disease +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 1A | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 1 | |