CACNA1S — 3396 ClinVar variants

Pathogenic 68

• p.Arg1239Gly Multiple submitters CACNA1S-related disorder
• p.Arg1239His Multiple submitters CACNA1S-related disorder
• p.Arg1254Ter Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg528His Multiple submitters CACNA1S-related disorder
• p.Gln1540Ter Multiple submitters congenital myopathy 18
• p.Leu1656fs Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys42Ter Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Pro742Ser Multiple submitters congenital myopathy 18
• p.Ser397fs Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala1404fs Single submitter hypokalemic periodic paralysis, type 1
• p.Ala192fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Arg1242Gly Single submitter Abnormality of the musculature
• p.Arg26fs Single submitter hypokalemic periodic paralysis, type 1
• p.Arg29fs Single submitter hypokalemic periodic paralysis, type 1
• p.Arg897Lys Single submitter malignant hyperthermia, susceptibility to, 5
• p.Arg897Ser Single submitter
• p.Arg900Met Single submitter hypokalemic periodic paralysis, type 1
• p.Asn1624fs Single submitter hypokalemic periodic paralysis, type 1
• p.Asn418fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Asn599fs Single submitter hypokalemic periodic paralysis, type 1
• p.Asp296fs Single submitter
• p.Asp362fs Single submitter congenital myopathy
• p.Cys1743Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Cys425fs Single submitter hypokalemic periodic paralysis, type 1
• p.Cys501Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gln146fs Single submitter hypokalemic periodic paralysis, type 1
• p.Gln1485Ter Single submitter congenital myopathy 18
• p.Gln1607Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Gln416Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Gln456Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Gln7Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Glu614fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Glu696fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Glu775fs Single submitter hypokalemic periodic paralysis, type 1
• p.Glu989fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gly1395fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ile1189fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ile189fs Single submitter hypokalemic periodic paralysis, type 1
• p.Leu1007fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Leu1330fs Single submitter hypokalemic periodic paralysis, type 1
• p.Leu1506fs Single submitter congenital myopathy
• p.Leu1612fs Single submitter hypokalemic periodic paralysis, type 1
• p.Leu363fs Single submitter hypokalemic periodic paralysis, type 1
• p.Leu816fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Lys1550fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Lys424fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Met870fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Pro1454_Leu1455insTer Single submitter hypokalemic periodic paralysis, type 1
• p.Pro742Gln Single submitter centronuclear myopathy ⚠
• p.Ser1342Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Thr1009fs Single submitter hypokalemic periodic paralysis, type 1
• p.Thr1158fs Single submitter hypokalemic periodic paralysis, type 1
• p.Thr1298fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Trp1016Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Trp1258Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Trp1325Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Trp1391Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Trp265Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Trp459Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Trp800Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Trp990Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Tyr1113Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Tyr210Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Tyr299Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Val130Asp Single submitter hypokalemic periodic paralysis, type 1
• p.Val875Glu Single submitter hypokalemic periodic paralysis, type 1
• p.Arg528Gly No assertion criteria hypokalemic periodic paralysis, type 1
• p.Leu791fs No assertion criteria congenital myopathy 18

Pathogenic/Likely pathogenic 9

• c.4113+1G>A Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg412Ter Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg528Cys Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg897Thr Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg903Ter Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asn468fs Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu1348fs Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu938fs Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Trp616Ter Multiple submitters hypokalemic periodic paralysis, type 1

Likely pathogenic 47

• c.1233-1G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.258+2T>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.4113+1G>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg1086Ser Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.1005-1G>A Single submitter hypokalemic periodic paralysis, type 1
• c.1393+1G>T Single submitter hypokalemic periodic paralysis, type 1
• c.1948+2T>C Single submitter malignant hyperthermia, susceptibility to, 5
• c.2228-1G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.2361-2A>G Single submitter CACNA1S-related disorder
• c.2491-1G>T Single submitter hypokalemic periodic paralysis, type 1
• c.2491-2A>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.259-2del Single submitter congenital myopathy 18
• c.2658-2A>C Single submitter malignant hyperthermia, susceptibility to, 5
• c.2853+1G>T Single submitter hypokalemic periodic paralysis, type 1
• c.2854-2A>C Single submitter malignant hyperthermia, susceptibility to, 5
• c.3795+2T>A Single submitter
• c.3953+2C>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.4113+2T>C Single submitter malignant hyperthermia, susceptibility to, 5
• c.4338+1G>A Single submitter hypokalemic periodic paralysis, type 1
• c.4442-2A>G Single submitter hypokalemic periodic paralysis, type 1
• c.4797+1G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.5042_5048+3del Single submitter malignant hyperthermia, susceptibility to, 5
• c.5226+1G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.5227-2del Single submitter malignant hyperthermia, susceptibility to, 5
• c.541+2T>G Single submitter malignant hyperthermia, susceptibility to
• p.Ala1092Val Single submitter malignant hyperthermia, susceptibility to, 5
• p.Asp1400fs Single submitter
• p.Asp465fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Asp959fs Single submitter
• p.Cys792fs Single submitter
• p.Gln1307fs Single submitter
• p.Gln1728Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gln765Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Glu966fs Single submitter CACNA1S-related disorder
• p.Ile61fs Single submitter hypokalemic periodic paralysis, type 1
• p.Met578Ile Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Phe569Leu Single submitter hypokalemic periodic paralysis, type 1
• p.Ser1749fs Single submitter long QT syndrome
• p.Ser177Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Thr371fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Trp1112Ter Single submitter
• p.Trp423Ter Single submitter
• p.Tyr108Ter Single submitter Abnormality of the musculature
• p.Tyr1109Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Tyr1334Ter Single submitter
• p.Val876Glu Single submitter hypokalemic periodic paralysis, type 1
• p.Cys1338Ter No assertion criteria malignant hyperthermia, susceptibility to, 5

Conflicting classifications of pathogenicity 376

Showing the top 300 by review status; the full set is in the sitemap.

• c.1151-13C>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.1619+10G>T Single submitter hypokalemic periodic paralysis, type 1
• c.1619+16G>A Single submitter hypokalemic periodic paralysis, type 1
• c.1948+11G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.1948+1G>A Single submitter congenital myopathy 18
• c.1949-7C>T Single submitter congenital myopathy 18
• c.1949-8_1986del Single submitter malignant hyperthermia, susceptibility to, 5
• c.2063+1G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.2064-5C>T Single submitter malignant hyperthermia, susceptibility to, 5
• c.2158-2A>G Single submitter hypokalemic periodic paralysis, type 1
• c.2361-10G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.2361-15_2361-12del Single submitter malignant hyperthermia, susceptibility to, 5
• c.2361-3C>T Single submitter congenital myopathy 18
• c.2490+5C>T Single submitter malignant hyperthermia, susceptibility to, 5
• c.258+6A>G Single submitter hypokalemic periodic paralysis, type 1
• c.2746-8G>C Single submitter hypokalemic periodic paralysis, type 1
• c.2853+18C>T Single submitter hypokalemic periodic paralysis, type 1
• c.3053+19C>G Single submitter congenital myopathy 18
• c.3255+10C>T Single submitter hypokalemic periodic paralysis, type 1
• c.3256-12T>A Single submitter hypokalemic periodic paralysis, type 1
• c.3256-9G>A Single submitter hypokalemic periodic paralysis, type 1
• c.3414+3A>T Single submitter malignant hyperthermia, susceptibility to, 5
• c.3415-1G>A Single submitter hypokalemic periodic paralysis, type 1
• c.3525+1G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.3526-2A>G Single submitter hypokalemic periodic paralysis, type 1
• c.3526-3C>T Single submitter malignant hyperthermia, susceptibility to, 5
• c.3609+1G>A Single submitter
• c.3610-12T>G Single submitter hypokalemic periodic paralysis, type 1
• c.3667-1G>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.3667-3C>T Single submitter malignant hyperthermia, susceptibility to, 5
• c.3667-7C>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.3953+13C>T Single submitter hypokalemic periodic paralysis, type 1
• c.398+3G>A Single submitter hypokalemic periodic paralysis, type 1
• c.4114-3C>T Single submitter hypokalemic periodic paralysis, type 1
• c.4242-10C>G Single submitter hypokalemic periodic paralysis, type 1
• c.4543+2T>C Single submitter hypokalemic periodic paralysis, type 1
• c.4798-2A>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.4798-5C>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.5049-12C>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.5049-2A>G Single submitter hypokalemic periodic paralysis, type 1
• c.5049-6T>C Single submitter malignant hyperthermia, susceptibility to, 5
• c.5135-3C>T Single submitter malignant hyperthermia, susceptibility to, 5
• c.695-14C>G Single submitter malignant hyperthermia, susceptibility to, 5
• c.695-1G>A Single submitter hypokalemic periodic paralysis, type 1
• c.695-5T>A Single submitter malignant hyperthermia, susceptibility to, 5
• c.-4A>G Single submitter hypokalemic periodic paralysis, type 1
• p.Ala1023Thr Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1028Val Single submitter Inborn genetic diseases ⚠
• p.Ala102Thr Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Ala1042Thr Single submitter Inborn genetic diseases ⚠
• p.Ala1282Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1293Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1369= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ala1587Asp Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ala1592= Single submitter hypokalemic periodic paralysis, type 1
• p.Ala1666Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1669Thr Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1736Val Single submitter CACNA1S-related disorder ⚠
• p.Ala1739Thr Single submitter Inborn genetic diseases ⚠
• p.Ala1813Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala200Thr Single submitter Inborn genetic diseases ⚠
• p.Ala402Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala450Thr Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala560Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala574Thr Single submitter congenital myopathy 18 ⚠
• p.Ala814Thr Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala818Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ala877Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1038Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1038His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1086Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1096His Single submitter congenital myopathy 18 ⚠
• p.Arg1229His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1229Pro Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1239Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1242Lys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1242Ser Single submitter CACNA1S-related disorder ⚠
• p.Arg1249Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1254Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1302Trp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1389Gln Single submitter hypokalemic periodic paralysis, type 1
• p.Arg1447= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Arg1447Gln Single submitter hypokalemic periodic paralysis, type 1
• p.Arg1472= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Arg1472Cys Single submitter Inborn genetic diseases ⚠
• p.Arg1472His Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg1534Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1539His Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg1547Trp Single submitter congenital myopathy 18 ⚠
• p.Arg1560Gln Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1652His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1658Cys Single submitter Inborn genetic diseases ⚠
• p.Arg168Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Arg1702Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1702Pro Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg1702Ter Single submitter CACNA1S-related disorder
• p.Arg1733Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1794Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1836Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg252Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg252His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg253Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg253Trp Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg262Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg262Trp Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg29Gln Single submitter malignant hyperthermia, susceptibility to, 5
• p.Arg29Trp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg341Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg354Trp Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg364Gln Single submitter Inborn genetic diseases ⚠
• p.Arg364Trp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg419His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg422His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg462His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg489Cys Single submitter Inborn genetic diseases ⚠
• p.Arg489His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg498Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg498His Single submitter congenital myopathy 18 ⚠
• p.Arg498Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg528Leu Single submitter CACNA1S-related disorder ⚠
• p.Arg531Cys Single submitter congenital myopathy 18 ⚠
• p.Arg531His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg593Gln Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg593Trp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg594Leu Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg683His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg683Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg757Gln Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg757Ter Single submitter thyrotoxic periodic paralysis, susceptibility to, 1
• p.Arg759Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg759His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg789His Single submitter congenital myopathy 18 ⚠
• p.Arg794Cys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg794His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg823Gln Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg823Trp Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg828Gly Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg865Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg865His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg897Gly Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg900Ser Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
• p.Arg910Lys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg986Cys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg986His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Arg988= Single submitter hypokalemic periodic paralysis, type 1
• p.Arg988Cys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg988His Single submitter Inborn genetic diseases ⚠
• p.Asn1027Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Asn1147Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn1487= Single submitter hypokalemic periodic paralysis, type 1
• p.Asn1663Asp Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn302Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn649His Single submitter Inborn genetic diseases ⚠
• p.Asn803Asp Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn80Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Asn909Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Asp1180Asn Single submitter Inborn genetic diseases ⚠
• p.Asp1203= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Asp1390Glu Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Asp1516His Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Asp1650fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Asp1859Asn Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Asp276Asn Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Asp303= Single submitter hypokalemic periodic paralysis, type 1
• p.Asp389Val Single submitter congenital myopathy 18 ⚠
• p.Asp394Asn Single submitter congenital myopathy 18 ⚠
• p.Asp662His Single submitter Congenital nuclear cataract ⚠
• p.Asp723Asn Single submitter malignant hyperthermia, susceptibility to, 5
• p.Asp740Asn Single submitter hypokalemic periodic paralysis, type 1
• p.Asp959= Single submitter hypokalemic periodic paralysis, type 1
• p.Asp994Asn Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp998Asn Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys1741Ter Single submitter hypokalemic periodic paralysis, type 1
• p.Cys245fs Single submitter hypokalemic periodic paralysis, type 1
• p.Gln1018= Single submitter hypokalemic periodic paralysis, type 1
• p.Gln1087His Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Gln1142Arg Single submitter congenital myopathy 18 ⚠
• p.Gln1265His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gln1508Glu Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gln1508His Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gln456= Single submitter hypokalemic periodic paralysis, type 1
• p.Glu1226Asp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Glu1488Lys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Glu1564Lys Single submitter Inborn genetic diseases ⚠
• p.Glu1569Lys Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Glu1583Lys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1639Val Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Glu1689Lys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1752Lys Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1837Ala Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Glu216= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Glu216Lys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Glu510Asp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Glu724Lys Single submitter Inborn genetic diseases ⚠
• p.Glu749Lys Single submitter congenital myopathy 18 ⚠
• p.Glu886= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gly1015Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly1136Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1210Arg Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gly1220Arg Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1297Glu Single submitter Inborn genetic diseases ⚠
• p.Gly1596Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly1606= Single submitter hypokalemic periodic paralysis, type 1
• p.Gly1796Asp Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly258Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly264Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly279Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly507Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly577= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gly582Ala Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly583= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gly629Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly648= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Gly689Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly838Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly85Ser Single submitter Inborn genetic diseases ⚠
• p.Gly861Ala Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Gly929Arg Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly946= Single submitter hypokalemic periodic paralysis, type 1
• p.Gly978Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.His992Asp Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile1024Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile1152Val Single submitter Inborn genetic diseases ⚠
• p.Ile1195Thr Single submitter Inborn genetic diseases ⚠
• p.Ile1230= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ile1417Asn Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile229Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile256Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile428Phe Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile449Val Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile47Asn Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile511Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile61Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile722fs Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ile773Val Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile837Met Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile847Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ile925Val Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile945= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Ile95Thr Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu11Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Leu1490= Single submitter congenital myopathy 18
• p.Leu1584= Single submitter hypokalemic periodic paralysis, type 1
• p.Leu1628Phe Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Leu1628Pro Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Leu1644Ter Single submitter malignant hyperthermia, susceptibility to, 5
• p.Leu164Phe Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu1858Phe Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Leu31Phe Single submitter malignant hyperthermia, susceptibility to, 5
• p.Leu486= Single submitter hypokalemic periodic paralysis, type 1
• p.Leu72= Single submitter malignant hyperthermia, susceptibility to, 5
• p.Leu766Met Single submitter congenital myopathy 18 ⚠
• p.Lys1437Gln Single submitter Inborn genetic diseases ⚠
• p.Lys1522Arg Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Lys219Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Lys224Glu Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Lys430= Single submitter thyrotoxic periodic paralysis, susceptibility to, 1
• p.Lys432Glu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Lys685Arg Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Lys685Asn Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Lys88Glu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Lys962Glu Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Lys976= Single submitter hypokalemic periodic paralysis, type 1
• p.Met1005Leu Single submitter Inborn genetic diseases ⚠
• p.Met1056Val Single submitter Inborn genetic diseases ⚠
• p.Met152Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Met1537Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Met1808Thr Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Met519Ile Single submitter congenital myopathy 18 ⚠
• p.Met619Val Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Met635Lys Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Met635Thr Single submitter congenital myopathy 18 ⚠
• p.Met635Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Met883Leu Single submitter thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Met883Val Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Met921Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Phe1063= Single submitter hypokalemic periodic paralysis, type 1
• p.Phe1468Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Phe1533Ser Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Phe381= Single submitter thyrotoxic periodic paralysis, susceptibility to, 1
• p.Pro1181Arg Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Pro1620Ala Single submitter Inborn genetic diseases ⚠
• p.Pro16Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Pro1707Ala Single submitter Inborn genetic diseases ⚠
• p.Pro1767Ser Single submitter congenital myopathy 18 ⚠
• p.Pro1767Thr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Pro180= Single submitter hypokalemic periodic paralysis, type 1
• p.Pro242Ser Single submitter congenital myopathy 18 ⚠
• p.Pro457Ser Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Pro630Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Pro753Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Pro784Ala Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ser1143Leu Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ser1227Asn Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ser1502Gly Single submitter hypokalemic periodic paralysis, type 1
• p.Ser154Gly Single submitter Inborn genetic diseases ⚠
• p.Ser1617Tyr Single submitter hypokalemic periodic paralysis, type 1 ⚠
• p.Ser177= Single submitter thyrotoxic periodic paralysis, susceptibility to, 1
• p.Ser1771Asn Single submitter malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ser177Leu Single submitter malignant hyperthermia, susceptibility to, 5 ⚠

Benign 112

• c.1005-29C>T Multiple submitters
• c.1151-38C>A Multiple submitters
• c.1233-112C>A Multiple submitters
• c.1233-24A>G Multiple submitters
• c.1393+7C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1393+91A>G Multiple submitters
• c.152+56G>A Multiple submitters
• c.153-135G>A Multiple submitters
• c.153-166G>A Multiple submitters
• c.153-61A>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.1619+60G>A Multiple submitters
• c.1827+23C>A Multiple submitters
• c.1948+40A>G Multiple submitters
• c.1948+46T>G Multiple submitters
• c.1949-99_1949-98del Multiple submitters hypokalemic periodic paralysis, type 1
• c.2063+7G>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2157+59C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2158-201G>A Multiple submitters
• c.258+57G>A Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.2658-44T>A Multiple submitters
• c.2746-14C>T Multiple submitters congenital myopathy 18
• c.2746-25T>C Multiple submitters
• c.2853+99C>T Multiple submitters
• c.2907-89T>G Multiple submitters hypokalemic periodic paralysis, type 1
• c.3053+13T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3053+84G>A Multiple submitters
• c.3054-72C>T Multiple submitters
• c.3415-39C>T Multiple submitters
• c.3796-9G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3953+66G>C Multiple submitters
• c.3953+6C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3954-303A>C Multiple submitters
• c.3954-89C>T Multiple submitters
• c.4113+116C>T Multiple submitters
• c.4113+7T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4241+183G>A Multiple submitters
• c.4441+108A>C Multiple submitters
• c.4543+7G>A Multiple submitters congenital myopathy 18
• c.5048+162G>A Multiple submitters
• c.5049-145A>G Multiple submitters
• c.5135-56A>G Multiple submitters hypokalemic periodic paralysis, type 1
• c.5227-54T>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.901-64G>A Multiple submitters
• c.-231A>G Multiple submitters congenital myopathy 18
• c.-310G>C Multiple submitters
• c.-476G>A Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.-83C>T Multiple submitters congenital myopathy 18
• p.Ala665= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala69Gly Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg1539Cys Multiple submitters congenital myopathy 18 ⚠
• p.Arg1658His Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg683Cys Multiple submitters congenital myopathy 18 ⚠
• p.Asn497= Multiple submitters congenital myopathy 18
• p.Cys505= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gln1087= Multiple submitters congenital myopathy 18
• p.Gly517= Multiple submitters hypokalemic periodic paralysis, type 1
• p.His916= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile199= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu458His Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu522= Multiple submitters congenital myopathy 18
• p.Phe801= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Pro1620= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Pro457= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ser516= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ser891= Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1004+205A>G Single submitter
• c.1233-190C>T Single submitter
• c.1233-271G>A Single submitter
• c.1233-293C>T Single submitter
• c.152+258GGA[3] Single submitter
• c.152+299T>C Single submitter
• c.152+302C>T Single submitter
• c.152+32del Single submitter
• c.153-193G>T Single submitter
• c.153-321G>A Single submitter
• c.1620-124A>C Single submitter
• c.1620-133T>C Single submitter
• c.1620-289G>A Single submitter
• c.1948+279G>A Single submitter
• c.1948+320C>T Single submitter
• c.2063+318G>A Single submitter
• c.2063+331del Single submitter
• c.2063+333G>A Single submitter
• c.2064-213C>T Single submitter
• c.2157+198_2157+200del Single submitter
• c.2227+221A>G Single submitter
• c.2550+303A>G Single submitter
• c.258+199_258+200dup Single submitter
• c.258+204C>T Single submitter
• c.258+271T>C Single submitter
• c.2658-163C>A Single submitter
• c.2853+318T>A Single submitter
• c.2907-15dup Single submitter malignant hyperthermia, susceptibility to, 5
• c.3256-194C>T Single submitter
• c.3526-232C>T Single submitter
• c.3610-291C>G Single submitter
• c.3610-9del Single submitter malignant hyperthermia, susceptibility to, 5
• c.3666+197G>A Single submitter
• c.3667-319G>C Single submitter
• c.398+149A>G Single submitter
• c.4242-235A>C Single submitter
• c.4441+22dup Single submitter
• c.4669-150C>T Single submitter
• c.4797+120A>G Single submitter
• c.4798-278G>A Single submitter
• c.694+236_694+237dup Single submitter
• c.694+243G>A Single submitter
• c.695-101A>G Single submitter
• c.-476G>C Single submitter
• p.Ala1736Thr Single submitter hypokalemic periodic paralysis, type 1
• p.Gly1347Val Single submitter malignant hyperthermia, susceptibility to, 5
• p.Leu1127= Single submitter hypokalemic periodic paralysis, type 1

Benign/Likely benign 90

• c.1393+11A>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.152+17G>C Multiple submitters congenital myopathy 18
• c.1620-15C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.1828-5T>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.1948+10C>G Multiple submitters congenital myopathy 18
• c.1949-6G>A Multiple submitters congenital myopathy 18
• c.2227+15G>A Multiple submitters congenital myopathy 18
• c.2361-11C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2361-13C>T Multiple submitters congenital myopathy 18
• c.2550+17G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2745+14C>T Multiple submitters congenital myopathy 18
• c.2746-16G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2906+17G>A Multiple submitters congenital myopathy 18
• c.3054-3del Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3415-13G>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3525+18C>T Multiple submitters congenital myopathy 18
• c.3795+3G>A Multiple submitters congenital myopathy 18
• c.3796-11C>T Multiple submitters congenital myopathy 18
• c.3796-14C>T Multiple submitters congenital myopathy 18
• c.3861+14G>T Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.3953+14G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3953+7G>A Multiple submitters congenital myopathy 18
• c.399-14C>T Multiple submitters congenital myopathy 18
• c.4114-8T>C Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.4338+13G>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4339-14G>A Multiple submitters congenital myopathy 18
• c.4668+19T>C Multiple submitters congenital myopathy 18
• c.4669-11G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.5134+8C>T Multiple submitters congenital myopathy 18
• c.5370+10G>A Multiple submitters congenital myopathy 18
• c.5371-19C>T Multiple submitters congenital myopathy 18
• c.541+9C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.542-13C>T Multiple submitters congenital myopathy 18
• c.900+14C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.-68T>C Multiple submitters congenital myopathy 18
• c.*310A>T Multiple submitters congenital myopathy 18
• p.Ala1271Thr Multiple submitters congenital myopathy 18 ⚠
• p.Ala818= Multiple submitters congenital myopathy 18
• p.Ala889= Multiple submitters congenital myopathy 18
• p.Arg1652Cys Multiple submitters congenital myopathy 18
• p.Arg557His Multiple submitters congenital myopathy 18 ⚠
• p.Arg594Cys Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn123= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asn1667= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp115= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp465= Multiple submitters congenital myopathy 18
• p.Asp615= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gln490= Multiple submitters congenital myopathy 18
• p.Glu819= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gly1852Arg Multiple submitters congenital myopathy 18
• p.Gly258Asp Multiple submitters congenital myopathy 18
• p.Ile1202= Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• p.Ile1274= Multiple submitters congenital myopathy 18
• p.Ile1562= Multiple submitters congenital myopathy 18
• p.Ile639Val Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile928= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu1206= Multiple submitters congenital myopathy 18
• p.Leu1247= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu132Met Multiple submitters congenital myopathy 18
• p.Leu1832fs Multiple submitters congenital myopathy 18
• p.Leu84= Multiple submitters congenital myopathy 18
• p.Met827Thr Multiple submitters congenital myopathy 18
• p.Phe434Ser Multiple submitters hypokalemic periodic paralysis, type 1
• p.Phe502= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Phe645= Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• p.Pro1839Ser Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Pro630= Multiple submitters congenital myopathy 18
• p.Pro75= Multiple submitters congenital myopathy 18
• p.Ser1857Asn Multiple submitters congenital myopathy 18
• p.Ser516Leu Multiple submitters congenital myopathy 18
• p.Ser606Asn Multiple submitters congenital myopathy 18 ⚠
• p.Ser813= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Thr1259= Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• p.Thr1351= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Thr1473= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Thr149Ala Multiple submitters hypokalemic periodic paralysis, type 1
• p.Thr1696Met Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• p.Thr316= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Thr543= Multiple submitters congenital myopathy 18
• p.Tyr108= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Tyr286= Multiple submitters congenital myopathy 18
• p.Tyr299His Multiple submitters congenital myopathy 18
• p.Tyr484= Multiple submitters congenital myopathy 18
• p.Tyr627= Multiple submitters congenital myopathy 18
• p.Tyr867= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Val1111Met Multiple submitters congenital myopathy 18
• p.Val234= Multiple submitters congenital myopathy 18
• p.Val442Ile Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Val571Ile Multiple submitters congenital myopathy 18
• p.Val974= Multiple submitters congenital myopathy 18

Likely benign 1143

Showing the top 300 by review status; the full set is in the sitemap.

• c.1005-154C>T Multiple submitters
• c.1150+94A>G Multiple submitters
• c.1151-13C>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1151-18T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1233-15T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1393+16G>A Multiple submitters congenital myopathy 18
• c.1393+177G>A Multiple submitters
• c.1393+18G>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1393+9G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1394-12C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1394-4A>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1394-8C>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1394-8C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.152+17G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.152+26G>A Multiple submitters
• c.152+26G>C Multiple submitters
• c.152+9C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.1619+10G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1619+15C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.1619+9C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.1620-27C>T Multiple submitters
• c.1828-54G>C Multiple submitters
• c.1948+10C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1948+13G>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.1948+18G>A Multiple submitters congenital myopathy 18
• c.1948+19G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1949-8C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2063+43G>A Multiple submitters
• c.2064-26_2064-15del Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2158-14G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2228-10C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2228-13del Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2228-14C>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2228-14C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2228-9T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2361-4C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2361-9C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2491-12C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2491-15C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2491-17C>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.2491-20C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2491-6C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2551-11T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2551-192A>G Multiple submitters
• c.2551-286C>G Multiple submitters
• c.2551-76C>T Multiple submitters
• c.258+31C>A Multiple submitters
• c.259-14G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.259-15C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.259-43C>T Multiple submitters
• c.259-6C>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2657+10G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2657+9C>T Multiple submitters congenital myopathy 18
• c.2658-10C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2658-14T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2658-9G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2746-17_2746-14dup Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2746-4C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2853+19G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.2854-11_2854-10del Multiple submitters hypokalemic periodic paralysis, type 1
• c.2854-13T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2854-15T>G Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.2854-33CCTC[6] Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2854-33CCTC[7] Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2854-4G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2854-6C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2854-89C>G Multiple submitters
• c.2906+10G>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.2907-16G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.2907-9C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3053+148T>A Multiple submitters
• c.3054-148C>T Multiple submitters
• c.3054-6C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3256-13G>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3256-14T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3256-16G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.3525+7del Multiple submitters hypokalemic periodic paralysis, type 1
• c.3609+12G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.3609+216T>C Multiple submitters
• c.3610-17G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3610-18C>T Multiple submitters congenital myopathy 18
• c.3666+14G>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3666+17C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3667-4G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3667-4G>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3667-5C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3667-64G>A Multiple submitters
• c.3667-65C>T Multiple submitters
• c.3795+53T>G Multiple submitters
• c.3795+74C>A Multiple submitters
• c.3796-10C>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3796-10C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3796-13G>A Multiple submitters congenital myopathy 18
• c.3796-19G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.3796-20C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.3861+15G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.3862-13T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3953+16C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.399-145T>A Multiple submitters
• c.4113+20C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.4113+7_4113+8inv Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.4242-10C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4242-4G>A Multiple submitters congenital myopathy 18
• c.4242-5C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.4242-7C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4339-15C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.4339-9C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4543+15G>A Multiple submitters congenital myopathy 18
• c.4543+18G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.4544-11C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.4544-3C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4668+119C>G Multiple submitters
• c.4669-12C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4669-6C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.4798-12_4798-10del Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.4798-7C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.5048+8C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.5048+9G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.5134+15T>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.5135-14C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.5135-4A>G Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.5135-7C>T Multiple submitters congenital myopathy 18
• c.5227-20C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.5370+16G>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.5370+7C>T Multiple submitters hypokalemic periodic paralysis, type 1
• c.5371-14T>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.541+17C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.541+18T>A Multiple submitters congenital myopathy 18
• c.541+7G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.542-9C>T Multiple submitters congenital myopathy 18
• c.695-11T>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.695-60C>T Multiple submitters
• c.695-6del Multiple submitters hypokalemic periodic paralysis, type 1
• c.695-8G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.900+17G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.900+9G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.901-11G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.-60A>G Multiple submitters congenital myopathy 18
• c.*163G>A Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala101= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala1028= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala1092= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala1156= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala1171= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala1271= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala1739= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala200= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala30= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala450= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala626= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala660= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala667= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala67= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala678= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala69= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala739= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ala770= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala814= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala877= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg1652= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg1702= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg252= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg29= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg364= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg489= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg794= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn1221= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn143= Multiple submitters congenital myopathy 18
• p.Asn1654= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn1665= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asn1775= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asn239= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn418= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn728= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asp1030= Multiple submitters congenital myopathy 18
• p.Asp1339= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asp1421= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp1458= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asp1507= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asp296= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Asp362= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp745= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp825= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp977= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Cys1219= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Cys1439= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Cys1743= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Cys245= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Cys261= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Cys792= Multiple submitters congenital myopathy 18
• p.Gln1142Pro Multiple submitters congenital myopathy 18
• p.Gln1430= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gln919= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu1070= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu1073= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu1341= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu1531= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu1564= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu1590= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu1764= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu1774= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu696= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu763= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu775= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu967= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu984= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly1032= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gly1395= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly1450= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly1459= Multiple submitters congenital myopathy 18
• p.Gly1760= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly178= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly1798= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gly1852= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gly249= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gly251= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly263= Multiple submitters congenital myopathy 18
• p.Gly348= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gly487= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly628= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly884= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.His1398= Multiple submitters hypokalemic periodic paralysis, type 1
• p.His1532= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.His1861= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.His413= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.His987Arg Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile1043= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile105= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile1059= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile1195= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile1284= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile1292= Multiple submitters congenital myopathy 18
• p.Ile213= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile289= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile305= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile441= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile466= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile559= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile570= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile605= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile605Val Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile714= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile722= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile795= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile805= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Ile837= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ile931= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu1019= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu111= Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• p.Leu1130= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu1135= Multiple submitters Inborn genetic diseases
• p.Leu1153= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu1212= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu125= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu1267= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu1277= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu1315= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu1337= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu1475= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu175= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu1858= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu196= Multiple submitters congenital myopathy 18
• p.Leu202= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu317= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu319= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu328= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu36= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu386= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu398= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu40= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu458= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu471= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu552= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu553= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu562= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu566= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu568= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu576= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu580= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu652= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu653= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu754= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu761= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu807= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu871= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu89= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu896= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Leu938= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys1336= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Lys221= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys345= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys352= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys42= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys537= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Lys693= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Met827Val Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Phe275= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Phe278= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Phe434= Multiple submitters hypokalemic periodic paralysis, type 1
• p.Phe499= Multiple submitters malignant hyperthermia, susceptibility to, 5

Uncertain significance 1551

Showing the top 300 by review status; the full set is in the sitemap.

• c.1150+3T>C Multiple submitters hypokalemic periodic paralysis, type 1
• c.1150+6G>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1619+4A>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1827+5G>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.1827+6C>T Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.2227+3G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2490+5C>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2490+6G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2657+3G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.2853+6C>T Multiple submitters congenital myopathy 18
• c.2906+5A>G Multiple submitters hypokalemic periodic paralysis, type 1
• c.2906+6T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3255+5C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3255+6T>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3414+2dup Multiple submitters hypokalemic periodic paralysis, type 1
• c.3609+1G>C Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3609+6T>C Multiple submitters congenital myopathy 18
• c.3667-5C>G Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3795+4C>T Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.3953+5G>A Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1
• c.4441+3G>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.4543+4G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.5049-6T>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• c.5370+6C>A Multiple submitters hypokalemic periodic paralysis, type 1
• c.900+5G>A Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala102Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1053Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala107Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala116Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1171Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1233Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1282Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1324Asp Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Ala1324Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1331Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1345Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1407Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ala1469Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1486Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1492Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1525Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala157Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala1592Gly Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1592Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala1730Gly Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala246Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala246Thr Multiple submitters congenital myopathy 18 ⚠
• p.Ala30Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala344Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala518Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala560Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala626Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala626Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala63Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala667Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala69Asp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala69Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala776Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala817Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ala924Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ala943Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala943Val Multiple submitters Inborn genetic diseases ⚠
• p.Arg1038Leu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1086Gly Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg1096Cys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1096Leu Multiple submitters congenital myopathy 18 ⚠
• p.Arg119Cys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg119His Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg119Pro Multiple submitters congenital myopathy 18 ⚠
• p.Arg1229Cys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1236Cys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1249Trp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1254Gly Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Arg1302Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1389Trp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1427Lys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1447Trp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1472Leu Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1539Leu Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg1547Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1560Gly Multiple submitters congenital myopathy 18 ⚠
• p.Arg1572Cys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1572His Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1599Gln Multiple submitters congenital myopathy 18 ⚠
• p.Arg1599Trp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1614Lys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1658Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg1658Tyr Multiple submitters hypokalemic periodic paralysis, type 1
• p.Arg168Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg1709Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg174= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg1794Ter Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg1836Ter Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg1872Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg341Trp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg412Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg419Leu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg422Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg462Cys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg469Leu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg469Trp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg498Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg557Cys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg584fs Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Arg594His Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Arg789Cys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Arg903Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn1058Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn1078Ile Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn1105Lys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn1154Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn1303Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn1355Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn1487Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn1662Tyr Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Asn1672Lys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn1674His Multiple submitters congenital myopathy 18 ⚠
• p.Asn257Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn269Ser Multiple submitters congenital myopathy 18 ⚠
• p.Asn38Lys Multiple submitters Inborn genetic diseases ⚠
• p.Asn468Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn554Asp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn596Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn64Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn654Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn663Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asn728Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asn803Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn80del Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn80Lys Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asn999Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp1082Asn Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp1203Asn Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Asp1382Gly Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp1390Tyr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp1421Glu Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asp1458Asn Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Asp1507His Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp1816Glu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp1859Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asp598Val Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Asp734Asn Multiple submitters Inborn genetic diseases ⚠
• p.Asp734Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp77Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Asp78Tyr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp825Asn Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Asp998Glu Multiple submitters congenital myopathy 18 ⚠
• p.Cys1571Gly Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys1779Gly Multiple submitters Inborn genetic diseases ⚠
• p.Cys1848Tyr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys288Gly Multiple submitters congenital myopathy 18 ⚠
• p.Cys501Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys505Tyr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys529Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys529Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Cys638Ser Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Cys647Arg Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Cys957Tyr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gln1108Glu Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Gln114Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gln1265Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gln146Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gln1508Arg Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gln1556Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gln1865fs Multiple submitters hypokalemic periodic paralysis, type 1
• p.Gln919Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1014Gln Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu1014Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu1080Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1226Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu1226Lys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1251del Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu1542del Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Glu1569Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1639Lys Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1693Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu1720Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu1821Gly Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu374Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu379Ala Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu396Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu452Asp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu54Asp Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Glu54Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Glu666Lys Multiple submitters congenital myopathy 18 ⚠
• p.Glu697del Multiple submitters hypokalemic periodic paralysis, type 1
• p.Glu724Gly Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Glu768Gln Multiple submitters Inborn genetic diseases ⚠
• p.Gly1062Asp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly1072Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1072Glu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly109Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly10Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1136Asp Multiple submitters congenital myopathy 18 ⚠
• p.Gly1211Ala Multiple submitters Inborn genetic diseases
• p.Gly1211Glu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1252Arg Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Gly1285Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1285Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly133Arg Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly1415Arg Multiple submitters congenital myopathy 18 ⚠
• p.Gly1450Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly1459Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1514= Multiple submitters malignant hyperthermia, susceptibility to, 5
• p.Gly1545Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1558Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1606Ala Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1671Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1701Arg Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly1701Glu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly1760Ala Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly214Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly230Asp Multiple submitters Inborn genetic diseases ⚠
• p.Gly230Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly258Ser Multiple submitters congenital myopathy 18 ⚠
• p.Gly271Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly279Asp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly365Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly384Glu Multiple submitters Inborn genetic diseases ⚠
• p.Gly485Arg Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly517Asp Multiple submitters congenital myopathy 18 ⚠
• p.Gly523Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly582Glu Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Gly582Trp Multiple submitters congenital myopathy 18 ⚠
• p.Gly628Ser Multiple submitters congenital myopathy 18 ⚠
• p.Gly689Asp Multiple submitters Inborn genetic diseases ⚠
• p.Gly861Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly861Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly946Ser Multiple submitters congenital myopathy 18 ⚠
• p.Gly970Asp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly970Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Gly978Trp Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1139Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1139Pro Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1148Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1148Tyr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1397Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1398Gln Multiple submitters Inborn genetic diseases ⚠
• p.His1419Tyr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.His1441Arg Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His1768Arg Multiple submitters Inborn genetic diseases ⚠
• p.His1768Tyr Multiple submitters Inborn genetic diseases ⚠
• p.His1861Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.His426Arg Multiple submitters congenital myopathy 18 ⚠
• p.Ile1046Asn Multiple submitters congenital myopathy 18 ⚠
• p.Ile1047Asn Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1047Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile105Ser Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1133Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1133Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ile1194Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile129Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile1328Ser Multiple submitters congenital myopathy 18 ⚠
• p.Ile1393Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1497Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ile1513Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1555Thr Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1562Thr Multiple submitters congenital myopathy 18 ⚠
• p.Ile1807Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile1827Asn Multiple submitters congenital myopathy 18 ⚠
• p.Ile189Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ile209Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ile229Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile233Asn Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile233Met Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile289Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile428Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ile439Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile441Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ile45Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile538Leu Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile605Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ile642Met Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Ile651Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile714Asn Multiple submitters Inborn genetic diseases
• p.Ile722Val Multiple submitters congenital myopathy 18 ⚠
• p.Ile781Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile837Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Ile931Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Leu1163Met Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu1199Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu1256Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu1367Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu1506Ser Multiple submitters Inborn genetic diseases ⚠
• p.Leu1604Met Multiple submitters hypokalemic periodic paralysis, type 1
• p.Leu173Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu175Met Multiple submitters Inborn genetic diseases ⚠
• p.Leu1814Pro Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu1868Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu196Phe Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu204Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Leu328Met Multiple submitters thyrotoxic periodic paralysis, susceptibility to, 1 ⚠
• p.Leu34Pro Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu34Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Leu398Gln Multiple submitters malignant hyperthermia of anesthesia ⚠
• p.Leu444Phe Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Leu447Pro Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu480Gln Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠
• p.Leu509Pro Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
• p.Leu522Val Multiple submitters malignant hyperthermia, susceptibility to, 5 ⚠