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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASR
(I139T)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+2 more
GUncertain significance
CASR
(G143E)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+2 more
GPathogenic
CASR
(S171R)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+3 more
GUncertain significance
CASR
(R185Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
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