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Items: 1 to 100 of 625

  • The following term was not found in ClinVar: Propanedioic.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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, 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
(stop lost)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(R1872G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
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
(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
(D1859G)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(S1853P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(N1850K)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+2 more
GConflicting classifications of pathogenicity
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
(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, LOC101929305
(A1838S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
(R1836*)
Single nucleotide variant
(nonsense)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(M1828V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(I1827N)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(V1825M)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(E1821G)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+4 more
GUncertain significance
CACNA1S
(D1816E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
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
(R1794*)
Single nucleotide variant
(nonsense)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(P1782Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(P1782A)
Single nucleotide variant
(missense variant)
CACNA1S-related disorder
+2 more
GUncertain significance
CACNA1S
(A1781P)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(C1779G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(T1772S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(H1768R)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+3 more
GUncertain significance
CACNA1S
(P1767R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(E1765del)
Microsatellite
(inframe_deletion)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(E1765R)
Indel
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(G1760A)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(G1760W)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(S1756N)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(P1751S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CACNA1S
(M1750L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(V1746A)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
Duplication
(splice donor variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(C1741F)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(P1740L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(A1739S)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(A1736V)
Single nucleotide variant
(missense variant)
CACNA1S-related disorder
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(P1717R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(H1714Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Hypokalemic periodic paralysis, type 1
+1 more
GConflicting classifications of pathogenicity
CACNA1S
(R1709G)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GUncertain significance
CACNA1S
(R1702P)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+4 more
GConflicting classifications of pathogenicity
CACNA1S
(R1702Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(R1702*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(G1701A)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(G1701R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GUncertain significance
CACNA1S
(E1693K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GConflicting classifications of pathogenicity
CACNA1S
(S1682F)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
Duplication
(inframe_insertion)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(N1674H)
Single nucleotide variant
(missense variant)
Thyrotoxic periodic paralysis, susceptibility to, 1
+3 more
GUncertain significance
CACNA1S
(R1658Y)
Indel
(missense variant)
not provided
+5 more
GUncertain significance
CACNA1S
(R1658G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(R1658C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CACNA1S
(T1653A)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(R1652H)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(F1647L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CACNA1S
(F1647S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(E1639V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CACNA1S
(E1639Q)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(E1639K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CACNA1S
(Q1629E)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(R1626I)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
GUncertain significance
CACNA1S
(V1621I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CACNA1S
(S1617Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CACNA1S
Duplication
(inframe_insertion)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(N1616S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(L1612P)
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
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(L1604M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CACNA1S
(I1597V)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+1 more
GUncertain significance
CACNA1S
(G1596R)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
CACNA1S-related disorder
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(A1592G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(A1592V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(A1587D)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GConflicting classifications of pathogenicity
CACNA1S
Single nucleotide variant
(synonymous variant)
Hypokalemic periodic paralysis, type 1
+1 more
GConflicting classifications of pathogenicity
CACNA1S
(E1583K)
Single nucleotide variant
(missense variant)
Congenital myopathy 18
+6 more
GLikely benign
CACNA1S
(D1577E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GUncertain significance
CACNA1S
(D1577E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+1 more
GConflicting classifications of pathogenicity
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