| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | LOC130004273, KLLN +1 more | Single nucleotide variant (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | KLLN, LOC130004273 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KLLN, LOC130004273 +1 more | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | KLLN, LOC130004273 +1 more | Single nucleotide variant | Hereditary cancer-predisposing syndrome +7 more | |
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