| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with infantile epileptic spasms +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Deletion (splice acceptor variant) | Floating-Harbor syndrome +1 more | |
| | | Microsatellite (frameshift variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Deletion (frameshift variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Deletion (frameshift variant) | Floating-Harbor syndrome | |
| | | Microsatellite (frameshift variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (nonsense) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (intron variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (synonymous variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (intron variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Insertion (inframe_insertion) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Duplication (frameshift variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Duplication (frameshift variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (nonsense) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome | |
| | | Single nucleotide variant (missense variant) | Floating-Harbor syndrome +2 more | |