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Items: 1 to 100 of 2690

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
LOC122149345, LOC122149346
+166 more
Copy number loss
See cases
GPathogenic
CACNA1S
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(3 prime UTR variant)
Malignant hyperthermia of anesthesia
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
LOC101929305, CACNA1S
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S, LOC101929305
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GLikely benign
CACNA1S, LOC101929305
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GLikely benign
CACNA1S, LOC101929305
Single nucleotide variant
(3 prime UTR variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
Single nucleotide variant
(stop lost)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(stop lost)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S, LOC101929305
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
CACNA1S
(R1872G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(P1871L)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(P1871S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(I1869T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
Deletion
(inframe_indel)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(Q1865fs)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+4 more
GLikely benign
CACNA1S
(G1863S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(H1861Q)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(D1859G)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(D1859N)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GLikely benign
CACNA1S
(L1858F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(S1857N)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+5 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(S1853P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(G1852R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+3 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(N1850K)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(C1848*)
Single nucleotide variant
(nonsense)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(C1848Y)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(S1845F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(S1844R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(S1844T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GBenign
CACNA1S
(S1844N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(M1842I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(P1839fs)
Deletion
(frameshift variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(P1839S)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+5 more
GBenign/Likely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S, LOC101929305
(A1838S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
(E1837G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(E1837A)
Single nucleotide variant
(missense variant)
CACNA1S-related disorder
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(R1836Q)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(R1836*)
Single nucleotide variant
(nonsense)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(L1832fs)
Deletion
(frameshift variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GBenign/Likely benign
CACNA1S
(L1832P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(T1830R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
CACNA1S
(M1828I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACNA1S
(M1828V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(I1827T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(I1827N)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(E1826K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(V1825M)
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
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CACNA1S
(P1822S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(E1821G)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(C1818Y)
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
(D1816E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(L1814P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1S
(A1813T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(G1811D)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(A1809T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(M1808T)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(M1808V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(I1807F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(F1806C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(F1806S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
CACNA1S, LOC101929305
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(A1802T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(A1801V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GLikely benign
CACNA1S
(L1800S)
Inversion
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(L1800S)
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
+1 more
GLikely benign
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+3 more
GLikely benign
CACNA1S
(G1798R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1S
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GLikely benign
CACNA1S
(G1796D)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S, LOC101929305
(G1796A)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
(R1794L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
GUncertain significance
CACNA1S
(R1794Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
CACNA1S-related disorder
GLikely benign
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