| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | PIK3R1-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SHORT syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | SHORT syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant) | PIK3R1-related condition +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Agammaglobulinemia 7, autosomal recessive +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
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