Table 5
From: Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: e-Posters
Patient | Age at diagnosis (years) | Gene | Variant (hg19) | Urinary calcium/creatinine | β2-microglobulin in urine | Clinical characteristics |
|---|---|---|---|---|---|---|
1 | 6 | CLCN5 | (NM_001127898.4):c.415+1G > T | 0.85 | 29.46 | CKD 1 |
2 | 7 | CLCN5 | (NM_001127898.4):c.727-2A > C | 1.04 | 30.30 | Nephrocalcinosis, CKD 1 |
3 | 7 | OCRL | (NM_000276.4):c.805C>T (p.Pro269Ser) | 0.34 | 27.10 | Nephrocalcinosis, CKD 1 |
4 | 5 | CLCN5 | (NM_001127898.4):c.416-1G > C | 1.50 | 24.95 | Nephrocalcinosis, microhematuria, CKD 2 |
5 | 7 | CLCN5 | (NM_001127898.4):c.1152G>A (p.Trp384Ter) | 1.33 | 30.38 | Nephrocalcinosis, CKD 1 |
6 | 6 | CLCN5 | (NM_001127898.4):c.1557+1G > A | 1.10 | 30.47 | Nephrocalcinosis, CKD 1 |
7 | 4 | CLCN5 | (NM_001127898.4):c.1557+1G > A | 0.26 | 23.23 | CKD 1 |
