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Links from MedGen

Items: 1 to 100 of 1808

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASR
(N124K)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
GLikely pathogenic
ADCY5, CASR
+32 more
Duplication
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Duplication
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR, CSTA
Deletion
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(P274S)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(S175N)
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
(A615S +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(S132T)
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
(A324D)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(E251del)
Deletion
(inframe_deletion)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(T898M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(F825del +1 more)
Microsatellite
(inframe_deletion)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(R795Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(Q745P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V728F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(K601N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(C582R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(C572Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+2 more
GUncertain significance
CASR
(Y514C)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+2 more
GConflicting classifications of pathogenicity
CASR
(G509A)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(Q245R)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(R220P)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(M1R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(G148S)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+2 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(S271P)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(E277D)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(S810T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(E499G)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(P367H)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(F790C +1 more)
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
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(L1025V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(W618C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(K973R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(A998V +1 more)
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
(I252M)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(K917R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(N345S)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(Q24*)
Single nucleotide variant
(nonsense)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(V165I)
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
(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
(A897D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(G222E)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(I851F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(D190N)
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
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(D398V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
Single nucleotide variant
(synonymous variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(H766Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(E332G)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(S182C)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant hypocalcemia 1
+1 more
GPathogenic
CASR
(G35E)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V256I)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(P55S)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V1056A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(Y411N)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V633E +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V715A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
CASR
(F522S)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(N991K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(I162V)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(H1004P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(V633G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(C585S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(N178K)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
(P721S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant hypocalcemia 1
+1 more
GUncertain significance
CASR
Single nucleotide variant
(intron variant)
Autosomal dominant hypocalcemia 1
+1 more
GLikely benign
CASR
(F688C +1 more)
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
(A558E +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(N400Y)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(I777T +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(S385R)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
Single nucleotide variant
(splice donor variant)
Familial hypocalciuric hypercalcemia
+1 more
GLikely pathogenic
CASR
Microsatellite
(inframe_insertion)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(V420E)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(K805R +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(F533Y)
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
(V141M)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
CASR
(Q954R +1 more)
Single nucleotide variant
(missense variant)
Familial hypocalciuric hypercalcemia
+1 more
GUncertain significance
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