| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 20q13.13qter duplication | |
| | LOC130066240, LOC130066241 +553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +249 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD16B, ARFGAP1 +244 more | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | ABHD16B, ARFGAP1 +230 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066361, LOC130066362 +102 more | Duplication | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | SLC17A9-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Variation (no sequence alteration) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 8, disseminated superficial actinic type | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 8, disseminated superficial actinic type | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Porokeratosis 8, disseminated superficial actinic type | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SLC17A9-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SLC17A9-related disorder | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number loss | not specified | |
| | | Copy number gain | See cases | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | SLC17A9, TNFRSF6B +50 more | Duplication | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Autosomal dominant nocturnal frontal lobe epilepsy +1 more | |
| | | Copy number loss | Seizures, benign familial neonatal, 1 +1 more | |
| | | Copy number loss | Seizures, benign familial neonatal, 1 +1 more | |
| | | Copy number loss | Seizures, benign familial neonatal, 1 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Epileptic spasm | |
| | | Duplication | Developmental and epileptic encephalopathy, 33 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |