| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862603, SRSF1 (D155N) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126862603, SRSF1 (Y153F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126862603, SRSF1 (R154*) | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | LOC126862603, SRSF1 (R245C) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | LOC126862603, SRSF1 (S201fs) | Deletion (3 prime UTR variant +2 more) | Neurodevelopmental delay +1 more | |
| | LOC126862603, SRSF1 (H183R) | Single nucleotide variant (missense variant +1 more) | 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 disorder with dysmorphic facies and behavioral abnormalities +2 more | GPathogenic/Likely pathogenic |
| | LOC130061266, SRSF1 (R97*) | Single nucleotide variant (nonsense +1 more) | not provided | |
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