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Links from MedGen

Items: 1 to 100 of 2129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASR
(E350*)
Single nucleotide variant
(nonsense)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
(C585W +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(W70S)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(A306P)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(M307V)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+2 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(I452F)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+2 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(S448C)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(F785S +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(A850V +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(F65I)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(I763S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(T699P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(S607del +1 more)
Microsatellite
(inframe_deletion)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(F799S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(P274A)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(C571Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(F739L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(A430fs)
Insertion
(frameshift variant)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(V370L)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(E610A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(P278A)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(S166N)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(W15fs)
Deletion
(frameshift variant)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(G1068A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(N649I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V153M)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(G290D)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(D48N)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(I771T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(L184R)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(P960L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(L276I)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(D215N)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(I771L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(L174P)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(I763L +1 more)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+2 more
GUncertain significance
CASR
(R375T)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(S794A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(A693S +1 more)
Indel
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(T949N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+2 more
GUncertain significance
CASR
(R465L)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V699M +1 more)
Indel
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Nephrolithiasis/nephrocalcinosis
+2 more
GLikely benign
CASR
(N647K +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(M197L)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+2 more
GUncertain significance
CASR
(A324G)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(I452N)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(N400D)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(G30R)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(R62K)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(N118D)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(A1000T +1 more)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+2 more
GUncertain significance
CASR
(T138R)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(G376D)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
Indel
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(L368*)
Single nucleotide variant
(nonsense)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(S911N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V149A)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(D31H)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(N82fs)
Deletion
(frameshift variant)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
(A840fs +1 more)
Deletion
(frameshift variant)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(F934S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(H495Y)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(F38L)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(G571R +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(E241fs)
Deletion
(frameshift variant)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(intron variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(intron variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(Y435C)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(V838A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(F924V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(T372fs)
Duplication
(frameshift variant)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
(L616fs +1 more)
Deletion
(frameshift variant)
Familial hypocalciuric hypercalcemia
+1 more
GPathogenic
CASR
Single nucleotide variant
(intron variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+2 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
(T1018P +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant +1 more)
Familial hypocalciuric hypercalcemia
+1 more
GLikely benign
CASR
Single nucleotide variant
(splice donor variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely pathogenic
CASR
(Q1005K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
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