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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASR
(I32N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASR
(L125P)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+5 more
GConflicting classifications of pathogenicity
CASR
(P163L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASR
(R185Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
CASR
(D217N)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia 1
+7 more
GUncertain significance
CASR
(I283T)
Single nucleotide variant
(missense variant)
See cases
+6 more
GConflicting classifications of pathogenicity
CASR
(N345D)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+3 more
GUncertain significance
CASR
(D382N)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+6 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Nephrolithiasis/nephrocalcinosis
+6 more
GConflicting classifications of pathogenicity
CASR
(A615P +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+2 more
GUncertain significance
CASR
(A615T +1 more)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+6 more
GUncertain significance
CASR
(Q957R +1 more)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+3 more
GUncertain significance
CASR
(E991G +1 more)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+3 more
GUncertain significance
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