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Links from MedGen

Items: 1 to 100 of 350

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
(K424R)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
GUncertain significance
CACNA1S
(L1399R)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
GUncertain significance
CACNA1S
Deletion
(splice acceptor variant)
Congenital myopathy 18
GLikely pathogenic
CACNA1S
Single nucleotide variant
(missense variant)
Congenital myopathy 18
GPathogenic
CACNA1S
(L791fs)
Deletion
(frameshift variant)
Congenital myopathy 18
GPathogenic
CACNA1S
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(nonsense)
Congenital myopathy 18
GPathogenic
CACNA1S
(S397fs)
Microsatellite
(frameshift variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GPathogenic
CACNA1S
(P742S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CACNA1S
(S243L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(R1447W)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+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)
Inborn genetic diseases
+4 more
GUncertain significance
CACNA1S
(L1656fs)
Deletion
(frameshift variant)
Hypokalemic periodic paralysis, type 1
+1 more
GPathogenic
CACNA1S
(D1203N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+4 more
GUncertain significance
CACNA1S
(E1693K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
Malignant hyperthermia, susceptibility to, 5
+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)
Inborn genetic diseases
+4 more
GUncertain significance
CACNA1S
(V610L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+4 more
GUncertain significance
CACNA1S
(T1573S)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(R1599Q)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GUncertain significance
CACNA1S
(V375F)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+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
(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
(M493T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(G517D)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(Q114K)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+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)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
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
(V1253M)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(V184M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1S
(L1367V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1S
(R1539L)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(A518T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+4 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 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
GConflicting classifications of pathogenicity
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
(S1342L)
Single nucleotide variant
(missense variant)
not provided
+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
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(H426R)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+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)
Malignant hyperthermia, susceptibility to, 5
+4 more
GUncertain significance
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
(E749K)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(M941T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 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)
Malignant hyperthermia, susceptibility to, 5
+6 more
GConflicting classifications of pathogenicity
CACNA1S
(V917M)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GUncertain significance
CACNA1S
(N554D)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(R1302Q)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GUncertain significance
CACNA1S
(V503M)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GUncertain significance
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
CACNA1S
(R1096L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(C288G)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GUncertain significance
CACNA1S
(V1746A)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(R1086G)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+3 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
CACNA1S-related disorder
+5 more
GBenign/Likely benign
CACNA1S
(S546N)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+4 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+4 more
GBenign/Likely benign
CACNA1S
(T149A)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GBenign/Likely benign
CACNA1S
(I847V)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+4 more
GBenign/Likely benign
CACNA1S
(K219R)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(I639V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GBenign/Likely benign
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