| | | Deletion (frameshift variant +1 more) | Hereditary sensory and autonomic neuropathy type 6 | |
| | | Single nucleotide variant (nonsense) | Hereditary sensory and autonomic neuropathy type 6 | |
| | DST, DST-AS1 (Y146C +2 more) | Single nucleotide variant (missense variant) | DST-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | DST-related disorder +1 more | |
| | DST, LOC129389544 (L2469* +6 more) | Single nucleotide variant (nonsense) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, DST-AS1 (S168F +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary sensory and autonomic neuropathy type 6 | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | |
| | DST, LOC129996656 (W1526S +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | |
| | DST, LOC129996656 (F1523L +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (T1847A +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (G1866C +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (A1541T +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (K4749E +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (T1998S +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129389544 (I2419V +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DST, LOC129389544 (G2086R +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DST, DST-AS1 (A65V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DST, LOC129996656 (E1890D +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +2 more | |
| | DST, LOC129996656 (H1857R +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DST, LOC129996656 (E1802* +6 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | DST, LOC129996656 (T1963I +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | DST, DST-AS1 (M150V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DST, DST-AS1 (N5S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DST, DST-AS1 (R215W +1 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (Y4143S +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Deletion | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (Q2494R +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (M1811T +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129389544 (K2119E +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +2 more | |
| | DST, LOC129996656 (T1459A +6 more) | Single nucleotide variant (missense variant) | DST-related disorder +2 more | |
| | | Deletion | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (A2132G +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | LOC129996656, DST (E1511K +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Deletion (intron variant +1 more) | not provided | |
| | | Duplication (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (K2122R +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | DST, LOC129389544 (M2113T +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (H1833Y +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (T2424I +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (A4162T +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (P4098A +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (M1485V +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (Q1463E +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (L2089F +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129389544 (V2143A +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129996656 (L1900F +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129389544 (Q2430R +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | DST, LOC129389544 (W2116* +6 more) | Single nucleotide variant (nonsense) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | DST, LOC129389544 (P2457A +6 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | DST, LOC129389544 (K2596R +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (E4154K +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | LOC129996656, DST (G1540S +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (K1846E +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +2 more | |
| | DST, LOC129996656 (H1833D +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +2 more | |
| | LOC129389544, DST (A2094V +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +2 more | |
| | DST, LOC129389544 (D4503N +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (G1866D +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +3 more | |
| | DST, LOC129389544 (H4703R +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | DST, LOC129996656 (E4167G +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | DST, LOC129996656 (H1833Q +6 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | DST, LOC129389544 (T2645I +6 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | DST, LOC129389544 (S2427P +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | DST-related disorder +3 more | |
| | DST, LOC129389544 (K2606R +6 more) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Esophageal atresia +1 more | |
| | DST, DST-AS1 (A203E +2 more) | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 6 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |