| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental delay | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Bronchiectasis with or without elevated sweat chloride 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bronchiectasis with or without elevated sweat chloride 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive pseudohypoaldosteronism type 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
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