| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007872, SMARCD1 (P30L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130007872, SMARCD1 (P36L) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 +1 more | |
| | LOC130007872, SMARCD1 (P37L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130007872, SMARCD1 (P44S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130007872, SMARCD1 (L48V) | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 +1 more | |
| | LOC130007872, SMARCD1 (R50G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130007872, SMARCD1 (M53T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130007872, SMARCD1 (A56G) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alopecia, androgenetic, 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (nonsense) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 11 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Inversion | not specified | |
| | SLC15A5, SLC16A7 +1006 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |