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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
(S1857N)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+5 more
GBenign/Likely benign
CACNA1S
(P1839S)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+5 more
GBenign/Likely benign
CACNA1S
(L1800S)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
(P1767T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(A1669T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(R1658H)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GLikely benign
CACNA1S
(R1652C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+4 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
(E1583K)
Single nucleotide variant
(missense variant)
CACNA1S-related disorder
+6 more
GLikely benign
CACNA1S
(D1577E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GConflicting classifications of pathogenicity
CACNA1S
(R1539C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+5 more
GBenign
CACNA1S
(R1389Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+5 more
GBenign/Likely benign
CACNA1S
(T1354S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
Single nucleotide variant
(intron variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+4 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
CACNA1S
(V1275I)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+5 more
GBenign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+5 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+3 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+5 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+4 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GBenign/Likely benign
CACNA1S
(Y1177F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+3 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign
CACNA1S
(R1086H)
Single nucleotide variant
(missense variant)
succinylcholine response - Toxicity
+6 more
Gdrug response
CACNA1S
(N1078I)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(A1028V)
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
+1 more
GLikely benign
CACNA1S
(D998N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GBenign/Likely benign
CACNA1S
(G970S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
GLikely benign
CACNA1S
(T958I)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign
CACNA1S
Single nucleotide variant
(intron variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+5 more
GBenign
CACNA1S
(A877V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(R865C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(G838R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GConflicting classifications of pathogenicity
CACNA1S
(M827T)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign/Likely benign
CACNA1S
(A814T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GBenign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign/Likely benign
CACNA1S
(D740N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+5 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+4 more
GBenign/Likely benign
CACNA1S
(S606N)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
CACNA1S
(R557H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+5 more
GBenign/Likely benign
CACNA1S
(R528L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+4 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
(P521S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
(S516L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
+6 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+2 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(L458H)
Indel
(missense variant)
not provided
+1 more
GBenign
CACNA1S
(S451L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
(F434S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
CACNA1S
(D394N)
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
+1 more
GLikely benign
CACNA1S
(A344T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+4 more
GBenign/Likely benign
CACNA1S
(W300R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(Y299F)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+5 more
GBenign
CACNA1S
(G258V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(G258D)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+5 more
GBenign/Likely benign
CACNA1S
(I256V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GBenign
CACNA1S
Single nucleotide variant
(intron variant)
Congenital myopathy 18
+4 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(R174W)
Single nucleotide variant
(missense variant)
desflurane response - Toxicity
+6 more
Gdrug response
CACNA1S
(L164F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia of anesthesia
+4 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Congenital myopathy 18
+4 more
GBenign/Likely benign
CACNA1S
(S98L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(K88E)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GConflicting classifications of pathogenicity
CACNA1S
(A69G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+5 more
GBenign
CACNA1S
Single nucleotide variant
(5 prime UTR variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
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