Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | PKHD1, LOC126859690 (V1695fs) | Duplication (frameshift variant) | Ventricular hypertrophy +2 more | |
| | | Single nucleotide variant (intron variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive polycystic kidney disease +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene