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Links from MedGen

Items: 1 to 100 of 425

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
(S243L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+4 more
GUncertain significance
CACNA1S
(R1447W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+4 more
GLikely benign
CACNA1S
(V285M)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(D1203N)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(E1693K)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(G582W)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
(P1767S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(G384E)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(D1859N)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(R593Q)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(T236M)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(V610L)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(T1573S)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(N468fs)
Deletion
(frameshift variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GPathogenic/Likely pathogenic
CACNA1S
(R412*)
Single nucleotide variant
(nonsense)
Malignant hyperthermia, susceptibility to, 5
+2 more
GPathogenic/Likely pathogenic
CACNA1S
(E510D)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(R1599Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(V375F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(T349A)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(T477I)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(G1701R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(R594L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(R1249Q)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GConflicting classifications of pathogenicity
CACNA1S
(A402S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(M493T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(G517D)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(Q114K)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(N269S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(L653F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(I925V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(M1842I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(V1509I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(V1253M)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(R1472H)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(V184M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1S
(R1539L)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(A518T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(A1023T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GBenign/Likely benign
CACNA1S
Inversion
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
(R757Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(G279S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(T55M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(S1342L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(M883L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(P758L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(R1472C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(A877V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(H426R)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(K1291N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(I1046N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1S
(R1794Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(G1136D)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
(I1152V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(E749K)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(T852M)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(M941T)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GUncertain significance
CACNA1S
(I722V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(R1249W)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GUncertain significance
CACNA1S
(R789H)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+6 more
GConflicting classifications of pathogenicity
CACNA1S
(V917M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(V234M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(N554D)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(R1302Q)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GUncertain significance
CACNA1S
(V503M)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(G507S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(M883V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(S5L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GUncertain significance
CACNA1S
(R1709G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
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