| | LOC129993734, RETREG1 +1 more (E12*) | Single nucleotide variant (nonsense) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | LOC129993734, RETREG1 +1 more (A35fs) | Deletion (frameshift variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (nonsense) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | LOC129993734, RETREG1 +1 more (A19S) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (splice donor variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | LOC129993734, RETREG1 +1 more (P4S) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | LOC129993734, RETREG1 +1 more (A32P) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | |
| | LOC129993734, RETREG1 +1 more (G54R) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | GConflicting classifications of pathogenicity |
| | RETREG1, RETREG1-AS1 (F99L) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | LOC129993734, RETREG1 +1 more | Single nucleotide variant | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC129993734, RETREG1 +1 more | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | LOC129993734, RETREG1 +1 more (P29L) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC129993734, RETREG1 +1 more (P6L) | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | |
| | LOC129993734, RETREG1 +1 more (E8Q) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | LOC129993734, RETREG1 +1 more | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | LOC129993734, RETREG1 +1 more | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | GConflicting classifications of pathogenicity |
| | LOC129993734, RETREG1 +1 more (E8K) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | | Single nucleotide variant (3 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B | |
| | RETREG1-AS1, LOC129993734 +1 more | Single nucleotide variant (5 prime UTR variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2B +2 more | |
| | | Deletion (frameshift variant) | Hereditary sensory and autonomic neuropathy type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | LOC129993734, RETREG1 +1 more (P7fs) | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory and autonomic, type 2A +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |