| | | Single nucleotide variant (intron variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Duplication (frameshift variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (intron variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (intron variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile myofibromatosis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | PDGFRB-related disorder +4 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | PDGFRB-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Infantile myofibromatosis +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (intron variant) | Basal ganglia calcification, idiopathic, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more | |