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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(S247F)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+3 more
GConflicting classifications of pathogenicity
CASR
(M307T)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(N357Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASR
(D398N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+3 more
GLikely benign
CASR
(R866L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(Q926R +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+4 more
GConflicting classifications of pathogenicity
CASR
(T974S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASR
(P982S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASR
(V1036A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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