| | LOC129935011, LOC129935012 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BAZ2B, BAZ2B-AS1 +197 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC129935044, LOC129935045 +17 more | Deletion | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | West syndrome | |
| | | Duplication | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | LOC102724058, LOC129935046 +6 more | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A +3 more | Copy number loss | See cases | |
| | | Duplication | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Deletion | Neuropathy, hereditary sensory and autonomic, type 2A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary erythromelalgia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary erythromelalgia +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Deletion (3 prime UTR variant) | Congenital Indifference to Pain +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Deletion (3 prime UTR variant) | Congenital Indifference to Pain +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | Severe myoclonic epilepsy in infancy +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Deletion (3 prime UTR variant) | Severe myoclonic epilepsy in infancy +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Deletion (3 prime UTR variant) | Congenital Indifference to Pain +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Duplication (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Insertion (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Channelopathy-associated congenital insensitivity to pain, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary erythromelalgia +2 more | |
| | | Duplication (3 prime UTR variant) | Severe myoclonic epilepsy in infancy +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | Congenital Indifference to Pain +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Deletion (3 prime UTR variant) | Febrile seizures, familial +6 more | |
| | | Duplication (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal extreme pain disorder +2 more | |
| | | Duplication (3 prime UTR variant) | Inherited Erythromelalgia +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Small fiber neuropathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Duplication (3 prime UTR variant) | Febrile seizures, familial +6 more | |