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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASR
(P221S)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia
GPathogenic
CASR
(G670R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia
+2 more
GPathogenic
CASR
(P221L)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+7 more
GPathogenic
CASR
(E604K +1 more)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+4 more
GPathogenic
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