Disease (Inheritance) | Gene (Transcript) | Variant; Zygosity | Variant interpretation | Variant frequency (GnomAD) |
---|---|---|---|---|
Osteosclerotic metaphyseal dysplasia (AR); Parkinson’s disease (preliminary evidence, inheritance unknown) | LRRK1 (NM_024652.6) | c.4909A > T; Heterozygous | Variant of uncertain significance | 0 |
Beta-mannosidosis (AR) | MANBA (NM_005908.3) | c.1622G > A; Heterozygous | Likely pathogenic | 0.000008 |
Leukoencephalopathy with dystonia and motor neuropathy (AR) | SCP2 (NM_002979.5) | c.572A > G; Heterozygous | Variant of uncertain significance | 0.00004 |
Dent disease (XLR); Hypophosphatemic rickets (XLR); Nephrolithiasis, type I (XLR); Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (XLR) | CLCN5 (NM_001127898.4) | c.152G > A, Heterozygous | Variant of uncertain significance | 0.00001265 total; 0.00001685 in females; 0 in males |
Hypokalemic periodic paralysis, type 1 (AD); Susceptibility to malignant hyperthermia (AD); Susceptibility to thyrotoxic periodic paralysis (AD) | CACNA1S (NM_000069.3) | c.262A > G, Heterozygous | Variant of uncertain significance | 0.0002369 |