| | LOC126862603, SRSF1 (R154*) | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126862603, SRSF1 (R245C) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Autism spectrum disorder | |
| | LOC126862603, SRSF1 (S201fs) | Deletion (3 prime UTR variant +2 more) | Neurodevelopmental delay +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +1 more | |
| | LOC126862603, SRSF1 (H183R) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental delay +1 more | |
| | | Deletion | Neurodevelopmental delay +1 more | |
| | LOC126862603, SRSF1 (V194fs) | Duplication (3 prime UTR variant +2 more) | Neurodevelopmental delay +1 more | |
| | LOC126862603, SRSF1 (V160M) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +1 more | |
| | | Deletion | Neurodevelopmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental delay +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Neurodevelopmental delay +1 more | |
| | | Copy number loss | See cases | |
| | | Duplication | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
| | LOC130061266, SRSF1 (R97*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C17orf47, CCDC182 +168 more | Copy number loss | See cases | |
| | LOC112533659, LOC112533660 +2032 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |