| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paraganglioma +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | LOC121725020, LOC129930362
+9 more | Deletion | Encephalopathy due to GLUT1 deficiency | |
| | | Single nucleotide variant (nonsense) | Encephalopathy due to GLUT1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial adenomatous polyposis 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dihydropyrimidine dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | fluorouracil response - Other | |
| | | Deletion (frameshift variant) | PHGDH deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Factor V deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary leiomyomatosis and renal cell cancer +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lynch syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, type 7B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lipoyl transferase 1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | LOC107303340, VHL (V181I +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary nonpolyposis colorectal neoplasms +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related chondrodysplasia +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy with spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Laron syndrome with undetectable serum GH-binding protein | |
| | | Single nucleotide variant (missense variant) | Myofibromatosis, infantile, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Maturity onset diabetes mellitus in young +2 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes | |
| | EGFR, EGFR-AS1 (T790M +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | gefitinib response - Efficacy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | CFTR-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Pfeiffer syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dihydropyrimidinase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion (inframe_deletion) | Hereditary fructosuria | |
| | | Single nucleotide variant (missense variant) | 46,XY sex reversal 3 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | FGFR2-related craniosynostosis +13 more | |
| | HRAS, LRRC56 (K117R +1 more) | Single nucleotide variant (missense variant) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperproinsulinemia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Triosephosphate isomerase deficiency | |
| | | Single nucleotide variant (missense variant) | GPD1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis-plus syndrome | |
| | | Single nucleotide variant (synonymous variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency +7 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |