| | LOC126862261, SRRM2 (K190R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862261, SRRM2 (Q154K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder, autosomal dominant 72 | |
| | LOC126862261, SRRM2 (G140R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862261, SRRM2 (P170H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862261, SRRM2 (P163L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862261, SRRM2 (R156H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Deletion (inframe_deletion) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder, autosomal dominant 72 | |
| | LOC126862261, SRRM2 (Q114fs) | Duplication (frameshift variant) | SRRM2-related disorder | |
| | LOC126862261, SRRM2 (S150F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862261, SRRM2 (P167A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862261, SRRM2 (G106E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862261, SRRM2 (V146I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SRRM2-related Neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |