| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Deletion | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Deletion | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126806652, SCN11A (N1239D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 7 | |
| | | Single nucleotide variant (synonymous variant) | SCN11A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SCN11A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SCN11A-related disorder | |
| | | Single nucleotide variant (intron variant) | SCN11A-related disorder | |
| | LOC126806652, SCN11A (V1166A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Deletion (frameshift variant) | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Single nucleotide variant (nonsense) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Deletion (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (nonsense) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Deletion (frameshift variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Deletion (frameshift variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Deletion (frameshift variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +2 more | |
| | | Insertion (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (intron variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |
| | | Single nucleotide variant (missense variant) | Familial episodic pain syndrome with predominantly lower limb involvement +1 more | |