CASR mutations | | | | |
Loss-of-function | | | | |
FHH1 | Heterozygousa | High | Normal or high | Low |
NSHPT | Heterozygous, compound heterozygous, or homozygous | High | High | Normal, low or high |
Primary hyperparathyroidism (PHPT)b | Heterozygous or homozygous | High | High | Normal, low or high |
Gain-of-function | | | | |
ADH1 | Heterozygousa | Low | Normal or low | Normal, low or high |
Bartter syndrome type V | Heterozygous | Low | Low | High |
GNA11 mutations | | | | |
Loss-of-function | | | | |
FHH2 | Heterozygous | High | Normal or high | Normal or low |
Gain-of-function | | | | |
ADH2 | Heterozygous | Low | Normal or low | Normal or low |
AP2S1 mutations | | | | |
Loss-of-function | | | | |
FHH3 | Heterozygous | High | Normal or high | Low |