| | | Duplication (frameshift variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hypermanganesemia with dystonia, polycythemia, and cirrhosis | |
| | | Single nucleotide variant (splice acceptor variant) | Silver-Russell syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 33 | |
| | | Microsatellite (3 prime UTR variant +3 more) | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | |
| | | Duplication (frameshift variant +1 more) | High-grade astrocytoma with piloid features +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | |
| | | Single nucleotide variant (missense variant) | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | |
| | | Single nucleotide variant (missense variant) | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | |
| | | Duplication (frameshift variant +2 more) | Neuroepithelial tumor, PATZ1 fusion-positive | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant +1 more) | Astrocytoma IDH-mutant | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Insertion (frameshift variant +1 more) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered | |
| | | Single nucleotide variant (missense variant) | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | |
| | LOC129935183, TTN
+1 more (Q26213* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy | |
| | LOC126806433, TTN (K2284fs +1 more) | Deletion (frameshift variant) | Early-onset myopathy with fatal cardiomyopathy | |
| | TTN, TTN-AS1 (A26502fs +5 more) | Deletion (frameshift variant) | Early-onset myopathy with fatal cardiomyopathy | |
| | TTN, TTN-AS1 (Q26717* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy | |
| | | Single nucleotide variant (splice donor variant) | Early-onset myopathy with fatal cardiomyopathy | |
| | TTN, TTN-AS1 (R21216* +5 more) | Single nucleotide variant (nonsense) | Early-onset myopathy with fatal cardiomyopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral arteriovenous malformation | |
| | | Single nucleotide variant (nonsense) | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Diffuse midline glioma, H3 K27-altered +2 more | |
| | | Inversion | Neurofibromatosis, type 1 | |
| | | Deletion | Neurofibromatosis, type 1 | |
| | | Microsatellite (inframe_deletion) | Neurofibromatosis, type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autoinflammatory syndrome, familial, Behcet-like | |
| | | Single nucleotide variant (missense variant +1 more) | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and brain abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | POC1A-related syndrome | |
| | | Deletion (frameshift variant) | POC1A-related syndrome | |
| | | Deletion | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more | |
| | IFNAR2, IFNAR2-IL10RB (I185fs) | Deletion | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection +1 more | |
| | | Single nucleotide variant (splice donor variant) | Dilated cardiomyopathy 1G +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EGFR-related lung cancer +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Deletion (splice acceptor variant) | Diffuse midline glioma, H3 K27-altered +3 more | |
| | | Indel (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Diffuse midline glioma, H3 K27-altered +2 more | |
| | | Single nucleotide variant (missense variant) | Astroblastoma, MN1-altered +1 more | |
| | | Single nucleotide variant (missense variant) | ALG12-congenital disorder of glycosylation | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | EGFR-related lung cancer +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered +4 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial melanoma +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ALK-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuroepithelial tumor, PATZ1 fusion-positive +1 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to, 12 +2 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (nonsense) | Neurofibrmatosis type 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, familial spinal +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (Q34238* +5 more) | Single nucleotide variant (nonsense) | Neuromuscular disease +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Pheochromocytoma +7 more | |
| | | Single nucleotide variant (nonsense) | Mismatch repair cancer syndrome 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DICER1-related tumor predisposition +7 more | GConflicting classifications of pathogenicity |
| | RAD51D, RAD51L3-RFFL (R232* +2 more) | Single nucleotide variant (nonsense +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Astroblastoma, MN1-altered +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diffuse midline glioma, H3 K27-altered +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |