CACNA1H — 4083 ClinVar variants

Pathogenic 3

• c.2907+3A>T Single submitter hyperaldosteronism, familial, type IV
• p.Met1549Ile Single submitter idiopathic generalized epilepsy ⚠
• p.Met1549Val Single submitter primary aldosteronism

Likely pathogenic 5

• p.Ala598Val Single submitter ⚠
• p.Trp1145Ter Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Tyr1763Cys Single submitter
• p.Val233Leu Single submitter
• p.Tyr613Phe No assertion criteria primary aldosteronism

Conflicting classifications of pathogenicity 534

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

• c.1119+6C>T Single submitter hyperaldosteronism, familial, type IV
• c.1213-10C>G Single submitter hyperaldosteronism, familial, type IV
• c.2003-6C>T Single submitter idiopathic generalized epilepsy
• c.2789+16C>T Single submitter hyperaldosteronism, familial, type IV
• c.2789+6C>T Single submitter idiopathic generalized epilepsy
• c.2907+10G>A Single submitter hyperaldosteronism, familial, type IV
• c.3154+3G>A Single submitter idiopathic generalized epilepsy
• c.3155-7C>A Single submitter idiopathic generalized epilepsy
• c.3155-7C>G Single submitter hyperaldosteronism, familial, type IV
• c.3363+15C>T Single submitter hyperaldosteronism, familial, type IV
• c.3845+7C>T Single submitter idiopathic generalized epilepsy
• c.4038+6G>A Single submitter epilepsy, childhood absence, susceptibility to, 6
• c.4039-4G>A Single submitter idiopathic generalized epilepsy
• c.411+8G>A Single submitter epilepsy, childhood absence, susceptibility to, 6
• c.4350+6T>C Single submitter hyperaldosteronism, familial, type IV
• c.4351-16C>T Single submitter idiopathic generalized epilepsy
• c.4566+4C>T Single submitter epilepsy, childhood absence, susceptibility to, 6
• c.4760-5T>A Single submitter hyperaldosteronism, familial, type IV
• c.4929+8C>A Single submitter idiopathic generalized epilepsy
• c.5173+9C>G Single submitter idiopathic generalized epilepsy
• c.546-14G>T Single submitter hyperaldosteronism, familial, type IV
• c.546-9C>T Single submitter epilepsy, childhood absence, susceptibility to, 6
• c.644-3C>T Single submitter idiopathic generalized epilepsy
• p.752PG[2] Single submitter idiopathic generalized epilepsy
• p.752PG[4] Single submitter hyperaldosteronism, familial, type IV
• p.Ala1185Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1185Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala1341Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1349Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1386Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala141Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala145Thr Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala1476Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1706Thr Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala1737Thr Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Ala1874Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala1896= Single submitter idiopathic generalized epilepsy
• p.Ala1896Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1908Val Single submitter Inborn genetic diseases ⚠
• p.Ala1940Pro Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1942Val Single submitter Inborn genetic diseases ⚠
• p.Ala1973Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala1984Thr Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala1989Gly Single submitter idiopathic generalized epilepsy ⚠
• p.Ala2084Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala2091Ser Single submitter idiopathic generalized epilepsy ⚠
• p.Ala2097Asp Single submitter idiopathic generalized epilepsy
• p.Ala209Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala2108Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala2168Val Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Ala2178Thr Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala2181Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala2204Val Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Ala2208= Single submitter idiopathic generalized epilepsy
• p.Ala2208Thr Single submitter Inborn genetic diseases ⚠
• p.Ala2208Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala2209Pro Single submitter Inborn genetic diseases ⚠
• p.Ala2344Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala336Thr Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala448Asp Single submitter idiopathic generalized epilepsy ⚠
• p.Ala480Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala512Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala545Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala555Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala569Thr Single submitter Inborn genetic diseases ⚠
• p.Ala589Thr Single submitter Inborn genetic diseases ⚠
• p.Ala595Thr Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Ala599Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala5Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala60= Single submitter idiopathic generalized epilepsy
• p.Ala600Val Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Ala672Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala690= Single submitter hyperaldosteronism, familial, type IV
• p.Ala690Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala748Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala74Val Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Ala77Val Single submitter idiopathic generalized epilepsy
• p.Ala824Val Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Ala846Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala876Thr Single submitter idiopathic generalized epilepsy ⚠
• p.Ala997Val Single submitter Inborn genetic diseases ⚠
• p.Arg1026= Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Arg1104Gln Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1104Trp Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1105His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1141Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1142His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1150Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1150His Single submitter Inborn genetic diseases ⚠
• p.Arg1156Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1156His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1157Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1157His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1163Cys Single submitter idiopathic generalized epilepsy
• p.Arg1189Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1194Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1194Trp Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1195Gln Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1195Trp Single submitter Inborn genetic diseases ⚠
• p.Arg1202Trp Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1205Pro Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1215Cys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1217His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg121Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1253Cys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1253His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1253Leu Single submitter Inborn genetic diseases ⚠
• p.Arg1253Ser Single submitter hyperaldosteronism, familial, type IV
• p.Arg1267Gln Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1267Trp Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1269His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1282= Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Arg1284Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1284His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1408= Single submitter Inborn genetic diseases
• p.Arg1474Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1479Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1479His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1482Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1483His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1572Trp Single submitter hyperaldosteronism ⚠
• p.Arg1585His Single submitter Inborn genetic diseases ⚠
• p.Arg1597Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1597Trp Single submitter idiopathic generalized epilepsy
• p.Arg1607Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1607His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg1608His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg1674His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1675Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1823His Single submitter Inborn genetic diseases ⚠
• p.Arg1893Trp Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1917His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1946His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1946Leu Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2001Gln Single submitter Inborn genetic diseases ⚠
• p.Arg2001Trp Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2011Gln Single submitter Inborn genetic diseases ⚠
• p.Arg2011Trp Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg2060Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2063Trp Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2068His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2070Cys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg2070His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2070Pro Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2077Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2082Gln Single submitter Inborn genetic diseases ⚠
• p.Arg2082Leu Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2082Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg212Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2130Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2133His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2133Leu Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg2155Gln Single submitter Inborn genetic diseases ⚠
• p.Arg2182Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2182His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg2218Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2250Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg2250His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2257Gln Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2257Trp Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg2322Gln Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg2322Trp Single submitter Inborn genetic diseases ⚠
• p.Arg276Gln Single submitter Inborn genetic diseases ⚠
• p.Arg276Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg295Gln Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg309His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg334Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg428Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg434Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg437Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg437Trp Single submitter Inborn genetic diseases ⚠
• p.Arg439Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg439His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg469Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg474His Single submitter Inborn genetic diseases ⚠
• p.Arg477Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg477His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg481Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg487Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg487His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg503Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg503His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg506Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg506Gly Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg506Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg537Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg537His Single submitter idiopathic generalized epilepsy ⚠
• p.Arg552Gln Single submitter Inborn genetic diseases ⚠
• p.Arg552Ter Single submitter hyperaldosteronism, familial, type IV
• p.Arg564Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg564His Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg590Trp Single submitter Inborn genetic diseases ⚠
• p.Arg705Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg705Leu Single submitter idiopathic generalized epilepsy ⚠
• p.Arg725Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg735Gly Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg735Trp Single submitter CACNA1H-related disorder ⚠
• p.Arg739Cys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg739Leu Single submitter Inborn genetic diseases ⚠
• p.Arg744Gln Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg744Ter Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Arg747His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg761Gln Single submitter idiopathic generalized epilepsy ⚠
• p.Arg777Cys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Arg854Trp Single submitter idiopathic generalized epilepsy ⚠
• p.Arg88Trp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Asn1640Asp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Asn192Ser Single submitter idiopathic generalized epilepsy ⚠
• p.Asn270Thr Single submitter CACNA1H-related disorder ⚠
• p.Asn612Ile Single submitter idiopathic generalized epilepsy ⚠
• p.Asn612Thr Single submitter Inborn genetic diseases
• p.Asp1023Asn Single submitter idiopathic generalized epilepsy ⚠
• p.Asp1028Asn Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Asp1095Asn Single submitter idiopathic generalized epilepsy ⚠
• p.Asp1176Asn Single submitter Inborn genetic diseases ⚠
• p.Asp1216Asn Single submitter idiopathic generalized epilepsy ⚠
• p.Asp1218Asn Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Asp1233Asn Single submitter idiopathic generalized epilepsy ⚠
• p.Asp1233Val Single submitter idiopathic generalized epilepsy
• p.Asp1244Asn Single submitter idiopathic generalized epilepsy ⚠
• p.Asp1245del Single submitter idiopathic generalized epilepsy
• p.Asp1512Asn Single submitter hyperaldosteronism, familial, type IV
• p.Asp1602Asn Single submitter idiopathic generalized epilepsy
• p.Asp1895His Single submitter Inborn genetic diseases ⚠
• p.Asp1930Asn Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Asp2283Gly Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Asp2283Val Single submitter Inborn genetic diseases ⚠
• p.Asp2350Val Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Asp382Asn Single submitter Inborn genetic diseases ⚠
• p.Asp444Asn Single submitter idiopathic generalized epilepsy ⚠
• p.Asp547Asn Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Asp579Gly Single submitter idiopathic generalized epilepsy ⚠
• p.Cys165Arg Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Cys1782= Single submitter idiopathic generalized epilepsy
• p.Cys2078Trp Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Cys2223Tyr Single submitter idiopathic generalized epilepsy ⚠
• p.Cys2331Arg Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Cys847Phe Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Cys919= Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Gln1220Arg Single submitter Inborn genetic diseases ⚠
• p.Gln1220Glu Single submitter idiopathic generalized epilepsy ⚠
• p.Gln1264His Single submitter idiopathic generalized epilepsy ⚠
• p.Gln1949Leu Single submitter idiopathic generalized epilepsy ⚠
• p.Gln1980His Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Gln342Arg Single submitter idiopathic generalized epilepsy ⚠
• p.Gln765His Single submitter idiopathic generalized epilepsy ⚠
• p.Glu1031Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu1039Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu1067Gln Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Glu1197Lys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Glu1237Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu1241Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu131Lys Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Glu150Asp Single submitter idiopathic generalized epilepsy ⚠
• p.Glu1993Lys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu2039Asp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu2099Asp Single submitter idiopathic generalized epilepsy ⚠
• p.Glu2099Lys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu2116Lys Single submitter Inborn genetic diseases ⚠
• p.Glu2129Lys Single submitter Inborn genetic diseases ⚠
• p.Glu2176Lys Single submitter Inborn genetic diseases ⚠
• p.Glu2224Asp Single submitter idiopathic generalized epilepsy ⚠
• p.Glu2334Gln Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu285Lys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu310Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu320Lys Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Glu328Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu542Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu57Asp Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Glu666Lys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu771Lys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Gly1064Arg Single submitter idiopathic generalized epilepsy ⚠
• p.Gly1116Glu Single submitter idiopathic generalized epilepsy ⚠
• p.Gly1149Ser Single submitter idiopathic generalized epilepsy ⚠
• p.Gly1158= Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Gly1158Ser Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Gly1169= Single submitter idiopathic generalized epilepsy
• p.Gly1182Ser Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Gly1187Arg Single submitter Inborn genetic diseases ⚠
• p.Gly1219Arg Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Gly1355= Single submitter idiopathic generalized epilepsy
• p.Gly1889Arg Single submitter idiopathic generalized epilepsy ⚠
• p.Gly1992= Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Gly2002Arg Single submitter idiopathic generalized epilepsy ⚠
• p.Gly2053Arg Single submitter Inborn genetic diseases ⚠
• p.Gly2053Val Single submitter idiopathic generalized epilepsy ⚠
• p.Gly2087= Single submitter idiopathic generalized epilepsy
• p.Gly2128Ser Single submitter idiopathic generalized epilepsy ⚠
• p.Gly2163Arg Single submitter idiopathic generalized epilepsy ⚠
• p.Gly2180Asp Single submitter Inborn genetic diseases ⚠
• p.Gly2202Asp Single submitter Inborn genetic diseases ⚠
• p.Gly2237Arg Single submitter epilepsy, childhood absence, susceptibility to, 6 ⚠
• p.Gly2242= Single submitter idiopathic generalized epilepsy
• p.Gly2242Arg Single submitter Inborn genetic diseases ⚠
• p.Gly2346Ala Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Gly284Asp Single submitter idiopathic generalized epilepsy ⚠
• p.Gly298= Single submitter epilepsy, childhood absence, susceptibility to, 6
• p.Gly307Ser Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Gly331Asp Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Gly34Trp Single submitter idiopathic generalized epilepsy ⚠

Benign 329

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

• c.1212+12C>T Multiple submitters idiopathic generalized epilepsy
• c.2002+147C>T Multiple submitters
• c.2003-103G>T Multiple submitters
• c.2451+119T>C Multiple submitters
• c.2452-31C>T Multiple submitters
• c.2452-84A>G Multiple submitters
• c.2603+125C>T Multiple submitters
• c.2603+12C>T Multiple submitters idiopathic generalized epilepsy
• c.2604-19C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.2604-219A>G Multiple submitters
• c.2604-88C>A Multiple submitters
• c.2790-162T>C Multiple submitters
• c.2790-99C>G Multiple submitters
• c.299+80A>G Multiple submitters
• c.300-85T>A Multiple submitters
• c.300-95G>A Multiple submitters
• c.3064-136C>T Multiple submitters
• c.3064-39G>A Multiple submitters
• c.3155-73T>C Multiple submitters
• c.3363+91G>A Multiple submitters
• c.3744+44G>C Multiple submitters
• c.3846-16G>C Multiple submitters
• c.3969+35C>T Multiple submitters
• c.3970-5G>A Multiple submitters idiopathic generalized epilepsy
• c.3970-6C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.4038+41C>T Multiple submitters
• c.411+40G>A Multiple submitters
• c.412-139G>A Multiple submitters
• c.412-71C>T Multiple submitters
• c.4223+53C>T Multiple submitters
• c.4224-49G>A Multiple submitters
• c.4224-82C>A Multiple submitters
• c.4350+35G>A Multiple submitters
• c.4350+83G>A Multiple submitters
• c.4759+172C>A Multiple submitters
• c.5244+127C>T Multiple submitters
• c.5244+261C>T Multiple submitters
• c.5244+28G>A Multiple submitters
• c.5244+298G>A Multiple submitters
• c.5244+7G>A Multiple submitters idiopathic generalized epilepsy
• c.5887+107A>G Multiple submitters
• c.5888-141G>A Multiple submitters
• c.6048+13G>A Multiple submitters idiopathic generalized epilepsy
• c.6048+53A>G Multiple submitters
• c.643+188G>A Multiple submitters
• c.643+232A>C Multiple submitters
• c.643+247A>G Multiple submitters
• c.644-88C>T Multiple submitters
• c.803+116C>T Multiple submitters
• c.803+163C>T Multiple submitters
• c.804-160C>G Multiple submitters
• c.*101C>T Multiple submitters
• c.*195G>A Multiple submitters
• p.Ala1341= Multiple submitters idiopathic generalized epilepsy
• p.Ala555Val Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1892Leu Multiple submitters idiopathic generalized epilepsy
• p.Arg2060His Multiple submitters idiopathic generalized epilepsy
• p.Arg788Cys Multiple submitters idiopathic generalized epilepsy
• p.Gln163His Multiple submitters hyperaldosteronism, familial, type IV
• p.Glu1974Gly Multiple submitters hyperaldosteronism, familial, type IV
• p.Gly1907= Multiple submitters idiopathic generalized epilepsy
• p.Gly2041= Multiple submitters idiopathic generalized epilepsy
• p.Leu1407= Multiple submitters idiopathic generalized epilepsy
• p.Leu461= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro1947Leu Multiple submitters idiopathic generalized epilepsy
• p.Pro556= Multiple submitters idiopathic generalized epilepsy
• p.Pro640Leu Multiple submitters idiopathic generalized epilepsy
• p.Pro656Ser Multiple submitters idiopathic generalized epilepsy
• p.Ser1926= Multiple submitters hyperaldosteronism, familial, type IV
• p.Tyr166= Multiple submitters idiopathic generalized epilepsy
• p.Val664Ala Multiple submitters idiopathic generalized epilepsy
• c.1120-3del Single submitter hyperaldosteronism, familial, type IV
• c.1213-101G>A Single submitter
• c.1213-183T>G Single submitter
• c.1213-9C>G Single submitter hyperaldosteronism, familial, type IV
• c.2002+285G>C Single submitter
• c.2003-279C>T Single submitter
• c.2452-153_2452-70del Single submitter
• c.2452-293C>T Single submitter
• c.2452-323C>T Single submitter
• c.2603+280T>C Single submitter
• c.2604-272C>T Single submitter
• c.2907+18del Single submitter idiopathic generalized epilepsy
• c.300-341C>T Single submitter
• c.3063+21del Single submitter hyperaldosteronism, familial, type IV
• c.3154+13G>A Single submitter idiopathic generalized epilepsy
• c.3363+129A>T Single submitter
• c.3363+201C>T Single submitter
• c.3363+293G>A Single submitter
• c.3364-104A>G Single submitter
• c.3745-289G>A Single submitter
• c.3745-308G>A Single submitter
• c.3846-20A>C Single submitter
• c.3846-24T>C Single submitter
• c.3846-27A>C Single submitter
• c.3846-32G>C Single submitter
• c.4223+8del Single submitter idiopathic generalized epilepsy
• c.4476+30G>T Single submitter
• c.4778-270G>A Single submitter
• c.4778-275G>T Single submitter
• c.4778-311A>G Single submitter
• c.4930-270C>T Single submitter
• c.5174-4dup Single submitter idiopathic generalized epilepsy
• c.5245-129_5245-128insT Single submitter
• c.5245-191G>C Single submitter
• c.5245-203A>G Single submitter
• c.5245-245G>A Single submitter
• c.5245-256G>A Single submitter
• c.5324-263C>G Single submitter
• c.5445+20C>G Single submitter hyperaldosteronism, familial, type IV
• c.546-3dup Single submitter idiopathic generalized epilepsy
• c.6048+162T>C Single submitter
• c.6048+182C>T Single submitter
• c.6048+292T>C Single submitter
• c.6049-189_6049-188del Single submitter
• c.6049-241A>G Single submitter
• c.6049-301G>A Single submitter
• c.644-241G>C Single submitter
• c.644-244C>T Single submitter
• c.644-301C>G Single submitter
• c.803+13del Single submitter idiopathic generalized epilepsy
• c.803+178A>C Single submitter
• c.804-283del Single submitter
• c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1] Single submitter
• p.Ala1130= Single submitter idiopathic generalized epilepsy
• p.Ala141Val Single submitter idiopathic generalized epilepsy
• p.Ala1475= Single submitter idiopathic generalized epilepsy
• p.Ala1594= Single submitter idiopathic generalized epilepsy
• p.Ala181= Single submitter hyperaldosteronism, familial, type IV
• p.Ala1908Thr Single submitter hyperaldosteronism, familial, type IV
• p.Ala1940= Single submitter idiopathic generalized epilepsy
• p.Ala1958= Single submitter idiopathic generalized epilepsy
• p.Ala2065Thr Single submitter idiopathic generalized epilepsy
• p.Ala2140= Single submitter idiopathic generalized epilepsy
• p.Ala2140Thr Single submitter idiopathic generalized epilepsy
• p.Ala2158Val Single submitter hyperaldosteronism, familial, type IV
• p.Ala2198Val Single submitter hyperaldosteronism, familial, type IV
• p.Ala2254Ser Single submitter hyperaldosteronism, familial, type IV
• p.Ala321= Single submitter idiopathic generalized epilepsy
• p.Ala358= Single submitter hyperaldosteronism, familial, type IV
• p.Ala370Val Single submitter idiopathic generalized epilepsy ⚠
• p.Ala5Ser Single submitter hyperaldosteronism, familial, type IV
• p.Ala64= Single submitter hyperaldosteronism, familial, type IV
• p.Ala672Thr Single submitter idiopathic generalized epilepsy
• p.Ala748Val Single submitter hyperaldosteronism, familial, type IV
• p.Arg1125Gln Single submitter hyperaldosteronism, familial, type IV
• p.Arg1150= Single submitter hyperaldosteronism, familial, type IV
• p.Arg1205Trp Single submitter idiopathic generalized epilepsy
• p.Arg1231Cys Single submitter hyperaldosteronism, familial, type IV
• p.Arg1231His Single submitter idiopathic generalized epilepsy
• p.Arg1269Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg1607= Single submitter idiopathic generalized epilepsy
• p.Arg2005His Single submitter hyperaldosteronism, familial, type IV
• p.Arg2011= Single submitter hyperaldosteronism, familial, type IV
• p.Arg2060= Single submitter idiopathic generalized epilepsy
• p.Arg2068Cys Single submitter idiopathic generalized epilepsy
• p.Arg208Cys Single submitter hyperaldosteronism, familial, type IV
• p.Arg217Gln Single submitter hyperaldosteronism, familial, type IV
• p.Arg2205Leu Single submitter hyperaldosteronism, familial, type IV
• p.Arg2205Trp Single submitter idiopathic generalized epilepsy
• p.Arg2250Leu Single submitter idiopathic generalized epilepsy
• p.Arg308Cys Single submitter idiopathic generalized epilepsy ⚠
• p.Arg334His Single submitter hyperaldosteronism, familial, type IV
• p.Arg485Cys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Arg485His Single submitter hyperaldosteronism, familial, type IV
• p.Arg725His Single submitter idiopathic generalized epilepsy
• p.Arg747Cys Single submitter hyperaldosteronism, familial, type IV
• p.Arg762Gln Single submitter hyperaldosteronism, familial, type IV
• p.Arg762Trp Single submitter idiopathic generalized epilepsy
• p.Arg95= Single submitter idiopathic generalized epilepsy
• p.Asn1486= Single submitter idiopathic generalized epilepsy
• p.Asn1489Asp Single submitter idiopathic generalized epilepsy ⚠
• p.Asn172= Single submitter hyperaldosteronism, familial, type IV
• p.Asn258= Single submitter idiopathic generalized epilepsy
• p.Asn339= Single submitter idiopathic generalized epilepsy
• p.Asn341= Single submitter hyperaldosteronism, familial, type IV
• p.Asn360= Single submitter idiopathic generalized epilepsy
• p.Asn395= Single submitter hyperaldosteronism, familial, type IV
• p.Asn858= Single submitter idiopathic generalized epilepsy
• p.Asp1041= Single submitter idiopathic generalized epilepsy
• p.Asp1112Glu Single submitter idiopathic generalized epilepsy
• p.Asp1227Asn Single submitter hyperaldosteronism, familial, type IV
• p.Asp1233= Single submitter idiopathic generalized epilepsy
• p.Asp1243His Single submitter idiopathic generalized epilepsy
• p.Asp140= Single submitter idiopathic generalized epilepsy
• p.Asp2098Asn Single submitter idiopathic generalized epilepsy
• p.Asp568= Single submitter idiopathic generalized epilepsy
• p.Asp568Val Single submitter hyperaldosteronism, familial, type IV
• p.Cys1079= Single submitter hyperaldosteronism, familial, type IV
• p.Cys128= Single submitter idiopathic generalized epilepsy
• p.Cys1287= Single submitter hyperaldosteronism, familial, type IV
• p.Cys337= Single submitter idiopathic generalized epilepsy
• p.Cys82Tyr Single submitter idiopathic generalized epilepsy ⚠
• p.Cys847Tyr Single submitter hyperaldosteronism, familial, type IV
• p.Cys93= Single submitter idiopathic generalized epilepsy
• p.Gln1886Arg Single submitter hyperaldosteronism, familial, type IV
• p.Gln2153His Single submitter hyperaldosteronism, familial, type IV
• p.Gln326Lys Single submitter idiopathic generalized epilepsy
• p.Gln760Pro Single submitter idiopathic generalized epilepsy
• p.Glu1647Lys Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Glu2164Asp Single submitter hyperaldosteronism, familial, type IV
• p.Glu286Lys Single submitter idiopathic generalized epilepsy ⚠
• p.Glu459= Single submitter hyperaldosteronism, familial, type IV
• p.Gly1064= Single submitter hyperaldosteronism, familial, type IV
• p.Gly1111Arg Single submitter idiopathic generalized epilepsy
• p.Gly1173= Single submitter idiopathic generalized epilepsy
• p.Gly1219= Single submitter idiopathic generalized epilepsy
• p.Gly129= Single submitter idiopathic generalized epilepsy
• p.Gly1887Ser Single submitter idiopathic generalized epilepsy
• p.Gly190Arg Single submitter idiopathic generalized epilepsy ⚠
• p.Gly1957= Single submitter idiopathic generalized epilepsy
• p.Gly1992Arg Single submitter idiopathic generalized epilepsy
• p.Gly2127Ser Single submitter idiopathic generalized epilepsy
• p.Gly2252= Single submitter idiopathic generalized epilepsy
• p.Gly2274Arg Single submitter hyperaldosteronism, familial, type IV
• p.Gly2278Glu Single submitter idiopathic generalized epilepsy
• p.Gly2298Glu Single submitter idiopathic generalized epilepsy
• p.Gly2347Ser Single submitter idiopathic generalized epilepsy
• p.Gly2348Asp Single submitter idiopathic generalized epilepsy
• p.Gly245Ser Single submitter idiopathic generalized epilepsy ⚠
• p.Gly248= Single submitter idiopathic generalized epilepsy
• p.Gly254= Single submitter idiopathic generalized epilepsy
• p.Gly284Ser Single submitter hyperaldosteronism, familial, type IV
• p.Gly365Val Single submitter idiopathic generalized epilepsy
• p.Gly540= Single submitter idiopathic generalized epilepsy
• p.Gly544= Single submitter hyperaldosteronism, familial, type IV
• p.Gly607= Single submitter idiopathic generalized epilepsy
• p.Gly674= Single submitter hyperaldosteronism, familial, type IV
• p.Gly678= Single submitter hyperaldosteronism, familial, type IV
• p.Gly753Val Single submitter hyperaldosteronism, familial, type IV
• p.His1969= Single submitter idiopathic generalized epilepsy
• p.His2020= Single submitter hyperaldosteronism, familial, type IV
• p.His2118Tyr Single submitter hyperaldosteronism, familial, type IV
• p.His440= Single submitter idiopathic generalized epilepsy
• p.His515Tyr Single submitter idiopathic generalized epilepsy
• p.His521= Single submitter idiopathic generalized epilepsy
• p.His525= Single submitter idiopathic generalized epilepsy
• p.His533= Single submitter idiopathic generalized epilepsy
• p.His581Tyr Single submitter hyperaldosteronism, familial, type IV
• p.His646Pro Single submitter hyperaldosteronism, familial, type IV
• p.Ile178= Single submitter hyperaldosteronism, familial, type IV
• p.Ile305Val Single submitter hyperaldosteronism, familial, type IV
• p.Ile371= Single submitter idiopathic generalized epilepsy
• p.Ile400Val Single submitter idiopathic generalized epilepsy
• p.Ile864= Single submitter idiopathic generalized epilepsy
• p.Leu1058Pro Single submitter hyperaldosteronism, familial, type IV ⚠
• p.Leu1072= Single submitter hyperaldosteronism, familial, type IV
• p.Leu1115= Single submitter idiopathic generalized epilepsy
• p.Leu1204= Single submitter idiopathic generalized epilepsy
• p.Leu227= Single submitter idiopathic generalized epilepsy
• p.Leu401Val Single submitter idiopathic generalized epilepsy ⚠
• p.Leu447= Single submitter idiopathic generalized epilepsy
• p.Leu478= Single submitter idiopathic generalized epilepsy
• p.Leu679= Single submitter idiopathic generalized epilepsy
• p.Lys1119Glu Single submitter hyperaldosteronism, familial, type IV
• p.Lys1256= Single submitter idiopathic generalized epilepsy
• p.Lys2185Arg Single submitter hyperaldosteronism, familial, type IV
• p.Lys2247Glu Single submitter idiopathic generalized epilepsy
• p.Phe2143= Single submitter hyperaldosteronism, familial, type IV
• p.Phe241= Single submitter hyperaldosteronism, familial, type IV
• p.Phe241Leu Single submitter idiopathic generalized epilepsy
• p.Phe289= Single submitter hyperaldosteronism, familial, type IV
• p.Phe361= Single submitter idiopathic generalized epilepsy
• p.Phe396= Single submitter idiopathic generalized epilepsy
• p.Phe409= Single submitter idiopathic generalized epilepsy
• p.Phe80Leu Single submitter idiopathic generalized epilepsy ⚠
• p.Pro1201Ser Single submitter idiopathic generalized epilepsy
• p.Pro1211= Single submitter idiopathic generalized epilepsy
• p.Pro1945Ser Single submitter hyperaldosteronism, familial, type IV
• p.Pro1982Thr Single submitter idiopathic generalized epilepsy
• p.Pro1994Ser Single submitter hyperaldosteronism, familial, type IV
• p.Pro2045Leu Single submitter idiopathic generalized epilepsy
• p.Pro2120Thr Single submitter hyperaldosteronism, familial, type IV
• p.Pro2189Ala Single submitter idiopathic generalized epilepsy ⚠
• p.Pro2197Leu Single submitter idiopathic generalized epilepsy
• p.Pro2221Arg Single submitter idiopathic generalized epilepsy
• p.Pro2234Ser Single submitter idiopathic generalized epilepsy
• p.Pro2270Ser Single submitter idiopathic generalized epilepsy
• p.Pro2276= Single submitter idiopathic generalized epilepsy
• p.Pro2276Ser Single submitter idiopathic generalized epilepsy
• p.Pro2317His Single submitter idiopathic generalized epilepsy
• p.Pro2329Leu Single submitter idiopathic generalized epilepsy
• p.Pro2345= Single submitter hyperaldosteronism, familial, type IV
• p.Pro30= Single submitter hyperaldosteronism, familial, type IV
• p.Pro33Ser Single submitter idiopathic generalized epilepsy
• p.Pro36Leu Single submitter hyperaldosteronism, familial, type IV
• p.Pro54Arg Single submitter hyperaldosteronism, familial, type IV
• p.Pro562= Single submitter idiopathic generalized epilepsy
• p.Pro654His Single submitter idiopathic generalized epilepsy
• p.Pro661Leu Single submitter hyperaldosteronism, familial, type IV
• p.Pro71Gln Single submitter idiopathic generalized epilepsy
• p.Pro745Ser Single submitter idiopathic generalized epilepsy
• p.Pro856Leu Single submitter hyperaldosteronism, familial, type IV
• p.Ser1109= Single submitter idiopathic generalized epilepsy
• p.Ser1922Phe Single submitter idiopathic generalized epilepsy ⚠
• p.Ser2137= Single submitter idiopathic generalized epilepsy
• p.Ser2231Tyr Single submitter idiopathic generalized epilepsy ⚠
• p.Ser2255Phe Single submitter idiopathic generalized epilepsy
• p.Ser2285Arg Single submitter hyperaldosteronism, familial, type IV
• p.Ser2308= Single submitter idiopathic generalized epilepsy

Benign/Likely benign 197

• c.1120-3dup Multiple submitters hyperaldosteronism, familial, type IV
• c.1120-8C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.1212+18T>C Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.1213-11C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.1213-18C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.1213-7G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.2451+20C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.2603+20C>A Multiple submitters hyperaldosteronism, familial, type IV
• c.2604-17C>A Multiple submitters idiopathic generalized epilepsy
• c.2604-5C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.2790-20G>A Multiple submitters idiopathic generalized epilepsy
• c.2907+18C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.2907+9C>T Multiple submitters idiopathic generalized epilepsy
• c.299+15C>G Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.299+20_299+40del Multiple submitters hyperaldosteronism, familial, type IV
• c.300-8G>A Multiple submitters idiopathic generalized epilepsy
• c.3063+18G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3064-15C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.3364-14C>A Multiple submitters idiopathic generalized epilepsy
• c.3364-3C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.3744+17G>A Multiple submitters idiopathic generalized epilepsy
• c.3744+9G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3745-14G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3745-14G>T Multiple submitters hyperaldosteronism, familial, type IV
• c.3745-17G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3745-18C>T Multiple submitters idiopathic generalized epilepsy
• c.3845+11C>T Multiple submitters idiopathic generalized epilepsy
• c.3845+8G>A Multiple submitters idiopathic generalized epilepsy
• c.3846-10G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.3846-8C>T Multiple submitters idiopathic generalized epilepsy
• c.3969+20C>T Multiple submitters idiopathic generalized epilepsy
• c.4038+12C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.4038+15G>T Multiple submitters hyperaldosteronism, familial, type IV
• c.4038+8G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.4039-20G>A Multiple submitters idiopathic generalized epilepsy
• c.4223+8dup Multiple submitters idiopathic generalized epilepsy
• c.4224-11C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.4224-6C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.4476+15C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.4566+18G>A Multiple submitters idiopathic generalized epilepsy
• c.4759+13CGGTGG[2] Multiple submitters hyperaldosteronism, familial, type IV
• c.4777+16C>T Multiple submitters idiopathic generalized epilepsy
• c.4778-14C>T Multiple submitters idiopathic generalized epilepsy
• c.4778-5C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.4929+18G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.4929+8C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.5039+17C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5173+10C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5173+18C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5244+17C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5323+16G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.5324-4G>A Multiple submitters idiopathic generalized epilepsy
• c.5445+4C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5445+7G>A Multiple submitters idiopathic generalized epilepsy
• c.546-10C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.6048+12C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.6048+17del Multiple submitters idiopathic generalized epilepsy
• c.6048+18C>A Multiple submitters idiopathic generalized epilepsy
• c.643+11G>A Multiple submitters idiopathic generalized epilepsy
• c.804-8A>G Multiple submitters hyperaldosteronism, familial, type IV
• c.*10T>A Multiple submitters
• p.Ala1020= Multiple submitters idiopathic generalized epilepsy
• p.Ala1059Ser Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1130Thr Multiple submitters Inborn genetic diseases
• p.Ala1208Thr Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1223= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala141= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1705Thr Multiple submitters idiopathic generalized epilepsy
• p.Ala1885= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1966Val Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ala1997Thr Multiple submitters idiopathic generalized epilepsy
• p.Ala2065= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala2091= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ala2108= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala2158= Multiple submitters Inborn genetic diseases
• p.Ala2181= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala265Thr Multiple submitters idiopathic generalized epilepsy
• p.Ala332Thr Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala333= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ala594= Multiple submitters idiopathic generalized epilepsy
• p.Ala706= Multiple submitters idiopathic generalized epilepsy
• p.Ala763= Multiple submitters idiopathic generalized epilepsy
• p.Ala837= Multiple submitters idiopathic generalized epilepsy
• p.Arg1069Gln Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1105Cys Multiple submitters idiopathic generalized epilepsy
• p.Arg1215= Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1231= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Arg1596Cys Multiple submitters hyperaldosteronism, familial, type IV ⚠
• p.Arg1736= Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1871Gln Multiple submitters idiopathic generalized epilepsy
• p.Arg1892His Multiple submitters idiopathic generalized epilepsy
• p.Arg1893= Multiple submitters idiopathic generalized epilepsy
• p.Arg1917Cys Multiple submitters idiopathic generalized epilepsy
• p.Arg1946Cys Multiple submitters idiopathic generalized epilepsy
• p.Arg2005Cys Multiple submitters idiopathic generalized epilepsy
• p.Arg2077His Multiple submitters idiopathic generalized epilepsy
• p.Arg2218His Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg428= Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg505Cys Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg505His Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg603= Multiple submitters idiopathic generalized epilepsy
• p.Arg739His Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg777His Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg854Gln Multiple submitters idiopathic generalized epilepsy
• p.Asn1063= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asn1528= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Asn1751= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asn1793Ser Multiple submitters idiopathic generalized epilepsy ⚠
• p.Asn353= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Asn412= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asp1319= Multiple submitters idiopathic generalized epilepsy
• p.Asp1646= Multiple submitters idiopathic generalized epilepsy
• p.Asp1910= Multiple submitters idiopathic generalized epilepsy
• p.Asp2139= Multiple submitters idiopathic generalized epilepsy
• p.Asp296= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asp389= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asp568Asn Multiple submitters hyperaldosteronism, familial, type IV
• p.Asp579Asn Multiple submitters hyperaldosteronism, familial, type IV
• p.Asp861= Multiple submitters idiopathic generalized epilepsy
• p.Asp877= Multiple submitters hyperaldosteronism, familial, type IV
• p.Cys1438= Multiple submitters hyperaldosteronism, familial, type IV
• p.Cys1459= Multiple submitters idiopathic generalized epilepsy
• p.Cys2078= Multiple submitters idiopathic generalized epilepsy
• p.Glu31= Multiple submitters hyperaldosteronism, familial, type IV
• p.Glu718Ala Multiple submitters idiopathic generalized epilepsy
• p.Gly1187= Multiple submitters hyperaldosteronism, familial, type IV
• p.Gly129Ser Multiple submitters hyperaldosteronism, familial, type IV
• p.Gly1959Ser Multiple submitters idiopathic generalized epilepsy
• p.Gly1992Ser Multiple submitters Inborn genetic diseases
• p.Gly2239= Multiple submitters hyperaldosteronism, familial, type IV
• p.Gly284= Multiple submitters idiopathic generalized epilepsy
• p.Gly379= Multiple submitters hyperaldosteronism, familial, type IV
• p.Gly499Ser Multiple submitters hyperaldosteronism, familial, type IV ⚠
• p.Gly59= Multiple submitters idiopathic generalized epilepsy
• p.Gly755= Multiple submitters idiopathic generalized epilepsy
• p.Gly770= Multiple submitters idiopathic generalized epilepsy
• p.Gly848= Multiple submitters idiopathic generalized epilepsy
• p.Gly848Ser Multiple submitters idiopathic generalized epilepsy ⚠
• p.His1944= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.His1996= Multiple submitters idiopathic generalized epilepsy
• p.His646= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile1446= Multiple submitters idiopathic generalized epilepsy
• p.Ile364= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile369= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile397Val Multiple submitters idiopathic generalized epilepsy ⚠
• p.Leu1100= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu1416= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Leu1983= Multiple submitters idiopathic generalized epilepsy
• p.Leu2009= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Leu2013= Multiple submitters idiopathic generalized epilepsy
• p.Leu608= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu961= Multiple submitters hyperaldosteronism, familial, type IV
• p.Met2312Val Multiple submitters hyperaldosteronism, familial, type IV
• p.Met313Val Multiple submitters idiopathic generalized epilepsy
• p.Phe102= Multiple submitters idiopathic generalized epilepsy
• p.Phe1545= Multiple submitters idiopathic generalized epilepsy
• p.Phe1662= Multiple submitters idiopathic generalized epilepsy
• p.Phe2074= Multiple submitters idiopathic generalized epilepsy
• p.Phe238Cys Multiple submitters idiopathic generalized epilepsy
• p.Phe80= Multiple submitters idiopathic generalized epilepsy
• p.Phe957= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro1092= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro1121Leu Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro14Leu Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro1936= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro2083Leu Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro2173Ser Multiple submitters idiopathic generalized epilepsy
• p.Pro2177= Multiple submitters idiopathic generalized epilepsy
• p.Pro2313= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro306= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro453= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro686Leu Multiple submitters idiopathic generalized epilepsy
• p.Pro849Leu Multiple submitters idiopathic generalized epilepsy
• p.Ser1246= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ser1426= Multiple submitters idiopathic generalized epilepsy
• p.Ser1644= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ser2066= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ser2193= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ser423= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ser451= Multiple submitters idiopathic generalized epilepsy
• p.Ser493= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ser677Leu Multiple submitters hyperaldosteronism, familial, type IV
• p.Ser715= Multiple submitters idiopathic generalized epilepsy
• p.Ser717= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ser783= Multiple submitters idiopathic generalized epilepsy
• p.Ser989= Multiple submitters idiopathic generalized epilepsy
• p.Thr1191= Multiple submitters hyperaldosteronism, familial, type IV
• p.Thr1606Met Multiple submitters hyperaldosteronism, familial, type IV
• p.Thr273= Multiple submitters hyperaldosteronism, familial, type IV
• p.Thr323= Multiple submitters idiopathic generalized epilepsy
• p.Thr743= Multiple submitters idiopathic generalized epilepsy
• p.Thr920Met Multiple submitters hyperaldosteronism, familial, type IV
• p.Tyr1831= Multiple submitters hyperaldosteronism, familial, type IV
• p.Tyr457= Multiple submitters idiopathic generalized epilepsy
• p.Tyr463= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Val105Gly Multiple submitters hyperaldosteronism, familial, type IV
• p.Val727Ile Multiple submitters idiopathic generalized epilepsy

Likely benign 1451

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

• c.1120-11T>C Multiple submitters idiopathic generalized epilepsy
• c.1120-4C>G Multiple submitters idiopathic generalized epilepsy
• c.1120-5C>G Multiple submitters idiopathic generalized epilepsy
• c.1212+23G>A Multiple submitters
• c.1213-13G>C Multiple submitters hyperaldosteronism, familial, type IV
• c.2003-12C>T Multiple submitters idiopathic generalized epilepsy
• c.2003-261C>T Multiple submitters
• c.2003-4G>A Multiple submitters idiopathic generalized epilepsy
• c.2003-5C>T Multiple submitters idiopathic generalized epilepsy
• c.2451+105C>T Multiple submitters
• c.2452-12C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.2452-7C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.2603+10C>T Multiple submitters idiopathic generalized epilepsy
• c.2603+35C>T Multiple submitters
• c.2603+8C>G Multiple submitters idiopathic generalized epilepsy
• c.2789+10A>G Multiple submitters hyperaldosteronism, familial, type IV
• c.2789+20C>T Multiple submitters idiopathic generalized epilepsy
• c.2789+8C>A Multiple submitters idiopathic generalized epilepsy
• c.2790-18C>T Multiple submitters idiopathic generalized epilepsy
• c.2790-5C>T Multiple submitters idiopathic generalized epilepsy
• c.2790-9C>T Multiple submitters idiopathic generalized epilepsy
• c.2907+8C>G Multiple submitters idiopathic generalized epilepsy
• c.299+14_299+15inv Multiple submitters hyperaldosteronism, familial, type IV
• c.299+14C>G Multiple submitters hyperaldosteronism, familial, type IV
• c.299+16GGCGGGG[2] Multiple submitters hyperaldosteronism, familial, type IV
• c.299+16GGCGGGG[4] Multiple submitters hyperaldosteronism, familial, type IV
• c.299+20G>T Multiple submitters hyperaldosteronism, familial, type IV
• c.300-5G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3064-72G>A Multiple submitters
• c.3154+12C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.3154+14G>C Multiple submitters hyperaldosteronism, familial, type IV
• c.3155-11C>G Multiple submitters idiopathic generalized epilepsy
• c.3155-4G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3155-5C>T Multiple submitters idiopathic generalized epilepsy
• c.3363+12C>G Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.3364-13C>T Multiple submitters idiopathic generalized epilepsy
• c.3364-52G>A Multiple submitters
• c.3744+8C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.3745-15C>T Multiple submitters idiopathic generalized epilepsy
• c.3845+12G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.3845+14G>C Multiple submitters idiopathic generalized epilepsy
• c.3846-10G>C Multiple submitters
• c.3846-16G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.3846-19CCCGCC[3] Multiple submitters hyperaldosteronism, familial, type IV
• c.3969+12A>G Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.4038+14dup Multiple submitters hyperaldosteronism, familial, type IV
• c.4039-17C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.4039-5C>T Multiple submitters idiopathic generalized epilepsy
• c.4039-8C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.411+18_411+40del Multiple submitters hyperaldosteronism, familial, type IV
• c.4223+14C>T Multiple submitters idiopathic generalized epilepsy
• c.4224-17C>G Multiple submitters hyperaldosteronism, familial, type IV
• c.4224-7C>T Multiple submitters idiopathic generalized epilepsy
• c.4224-8C>T Multiple submitters idiopathic generalized epilepsy
• c.4350+16G>A Multiple submitters idiopathic generalized epilepsy
• c.4351-15G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.4351-5G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.4476+11C>T Multiple submitters idiopathic generalized epilepsy
• c.4476+16G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.4476+19C>T Multiple submitters idiopathic generalized epilepsy
• c.4567-14C>T Multiple submitters idiopathic generalized epilepsy
• c.4567-15G>A Multiple submitters idiopathic generalized epilepsy
• c.4567-4A>G Multiple submitters hyperaldosteronism, familial, type IV
• c.4759+13CGGTGG[4] Multiple submitters idiopathic generalized epilepsy
• c.4759+19C>T Multiple submitters idiopathic generalized epilepsy
• c.4759+8G>A Multiple submitters idiopathic generalized epilepsy
• c.4760-17T>G Multiple submitters idiopathic generalized epilepsy
• c.4778-13G>A Multiple submitters idiopathic generalized epilepsy
• c.4778-4G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.4929+9G>A Multiple submitters idiopathic generalized epilepsy
• c.4930-17C>T Multiple submitters idiopathic generalized epilepsy
• c.5039+16C>T Multiple submitters idiopathic generalized epilepsy
• c.5039+18G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.5039+7G>T Multiple submitters idiopathic generalized epilepsy
• c.5173+11G>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.5173+13G>A Multiple submitters idiopathic generalized epilepsy
• c.5173+13G>C Multiple submitters hyperaldosteronism, familial, type IV
• c.5173+19G>A Multiple submitters idiopathic generalized epilepsy
• c.5173+37G>A Multiple submitters
• c.5174-20C>T Multiple submitters idiopathic generalized epilepsy
• c.5174-5C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5244+10G>T Multiple submitters idiopathic generalized epilepsy
• c.5244+14G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.5244+16G>A Multiple submitters idiopathic generalized epilepsy
• c.5245-11C>G Multiple submitters idiopathic generalized epilepsy
• c.5245-11C>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.5323+12C>G Multiple submitters hyperaldosteronism, familial, type IV
• c.5323+15C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5324-14C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5324-16G>T Multiple submitters idiopathic generalized epilepsy
• c.5445+11C>T Multiple submitters idiopathic generalized epilepsy
• c.5445+6C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5446-9C>A Multiple submitters idiopathic generalized epilepsy
• c.545+10G>T Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.545+14G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.545+9C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.5887+13G>T Multiple submitters idiopathic generalized epilepsy
• c.5888-16T>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.6049-10G>A Multiple submitters hyperaldosteronism, familial, type IV
• c.6049-11C>T Multiple submitters hyperaldosteronism, familial, type IV
• c.6049-72G>A Multiple submitters
• c.643+13C>A Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• c.643+15C>G Multiple submitters idiopathic generalized epilepsy
• c.643+44G>A Multiple submitters
• c.644-7C>T Multiple submitters idiopathic generalized epilepsy
• c.644-87G>A Multiple submitters
• c.803+19C>T Multiple submitters idiopathic generalized epilepsy
• c.803+68A>G Multiple submitters
• c.804-4C>T Multiple submitters idiopathic generalized epilepsy
• c.804-50C>T Multiple submitters
• p.Ala1012= Multiple submitters idiopathic generalized epilepsy
• p.Ala1196= Multiple submitters idiopathic generalized epilepsy
• p.Ala1207= Multiple submitters idiopathic generalized epilepsy
• p.Ala1208= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala148= Multiple submitters idiopathic generalized epilepsy
• p.Ala1516= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1567= Multiple submitters idiopathic generalized epilepsy
• p.Ala157= Multiple submitters idiopathic generalized epilepsy
• p.Ala1601= Multiple submitters idiopathic generalized epilepsy
• p.Ala1665= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1789= Multiple submitters idiopathic generalized epilepsy
• p.Ala1857= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala1874= Multiple submitters idiopathic generalized epilepsy
• p.Ala1878= Multiple submitters idiopathic generalized epilepsy
• p.Ala1984= Multiple submitters idiopathic generalized epilepsy
• p.Ala2084= Multiple submitters idiopathic generalized epilepsy
• p.Ala2108Thr Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala2115= Multiple submitters idiopathic generalized epilepsy
• p.Ala2126= Multiple submitters idiopathic generalized epilepsy
• p.Ala2204= Multiple submitters idiopathic generalized epilepsy
• p.Ala2240= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ala2240Thr Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala327= Multiple submitters idiopathic generalized epilepsy
• p.Ala35= Multiple submitters idiopathic generalized epilepsy
• p.Ala555= Multiple submitters idiopathic generalized epilepsy
• p.Ala578= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ala596= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ala598= Multiple submitters idiopathic generalized epilepsy
• p.Ala637= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ala7= Multiple submitters idiopathic generalized epilepsy
• p.Ala748= Multiple submitters Inborn genetic diseases
• p.Ala802= Multiple submitters idiopathic generalized epilepsy
• p.Ala876= Multiple submitters idiopathic generalized epilepsy
• p.Ala963= Multiple submitters idiopathic generalized epilepsy
• p.Arg1157= Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1205Gln Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1215His Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg1217Cys Multiple submitters Inborn genetic diseases
• p.Arg1236His Multiple submitters idiopathic generalized epilepsy
• p.Arg1284= Multiple submitters idiopathic generalized epilepsy
• p.Arg1718= Multiple submitters idiopathic generalized epilepsy
• p.Arg208= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Arg2082= Multiple submitters Inborn genetic diseases
• p.Arg439= Multiple submitters hyperaldosteronism, familial, type IV
• p.Arg505= Multiple submitters Inborn genetic diseases
• p.Arg564= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Arg590Gln Multiple submitters idiopathic generalized epilepsy
• p.Arg705His Multiple submitters hyperaldosteronism, familial, type IV
• p.Asn1548= Multiple submitters idiopathic generalized epilepsy
• p.Asn1780= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asn192= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asn1929= Multiple submitters idiopathic generalized epilepsy
• p.Asn287= Multiple submitters idiopathic generalized epilepsy
• p.Asn335= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Asn345= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asn356= Multiple submitters idiopathic generalized epilepsy
• p.Asn914= Multiple submitters idiopathic generalized epilepsy
• p.Asn977= Multiple submitters idiopathic generalized epilepsy
• p.Asp1177= Multiple submitters idiopathic generalized epilepsy
• p.Asp1181= Multiple submitters idiopathic generalized epilepsy
• p.Asp1218= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Asp1244= Multiple submitters idiopathic generalized epilepsy
• p.Asp1512= Multiple submitters idiopathic generalized epilepsy
• p.Asp1620= Multiple submitters hyperaldosteronism, familial, type IV
• p.Asp1877= Multiple submitters idiopathic generalized epilepsy
• p.Asp1895= Multiple submitters idiopathic generalized epilepsy
• p.Asp2243= Multiple submitters idiopathic generalized epilepsy
• p.Asp2283= Multiple submitters idiopathic generalized epilepsy
• p.Asp351= Multiple submitters idiopathic generalized epilepsy
• p.Asp655= Multiple submitters idiopathic generalized epilepsy
• p.Asp733= Multiple submitters hyperaldosteronism, familial, type IV
• p.Cys847= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Gln765Arg Multiple submitters hyperaldosteronism, familial, type IV
• p.Gln973= Multiple submitters idiopathic generalized epilepsy
• p.Glu1460Lys Multiple submitters hyperaldosteronism, familial, type IV
• p.Glu1637= Multiple submitters Inborn genetic diseases
• p.Glu185= Multiple submitters idiopathic generalized epilepsy
• p.Glu320= Multiple submitters idiopathic generalized epilepsy
• p.Glu718Gly Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Glu816= Multiple submitters idiopathic generalized epilepsy
• p.Gly1136= Multiple submitters idiopathic generalized epilepsy
• p.Gly16= Multiple submitters hyperaldosteronism, familial, type IV
• p.Gly1753= Multiple submitters idiopathic generalized epilepsy
• p.Gly2211= Multiple submitters idiopathic generalized epilepsy
• p.Gly2212= Multiple submitters idiopathic generalized epilepsy
• p.Gly2315Ser Multiple submitters Inborn genetic diseases
• p.Gly2347= Multiple submitters idiopathic generalized epilepsy
• p.Gly406= Multiple submitters idiopathic generalized epilepsy
• p.Gly554= Multiple submitters idiopathic generalized epilepsy
• p.Gly726= Multiple submitters idiopathic generalized epilepsy
• p.Gly773Asp Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Gly811= Multiple submitters idiopathic generalized epilepsy
• p.Gly851= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.His104= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.His1559= Multiple submitters idiopathic generalized epilepsy
• p.His1611= Multiple submitters hyperaldosteronism, familial, type IV
• p.His1617= Multiple submitters hyperaldosteronism, familial, type IV
• p.His2286= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.His440Tyr Multiple submitters idiopathic generalized epilepsy
• p.His522= Multiple submitters idiopathic generalized epilepsy
• p.His573= Multiple submitters idiopathic generalized epilepsy
• p.His736= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ile1311= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile1509= Multiple submitters Inborn genetic diseases
• p.Ile1541= Multiple submitters
• p.Ile1658= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile1880= Multiple submitters idiopathic generalized epilepsy
• p.Ile246= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile400= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile660= Multiple submitters idiopathic generalized epilepsy
• p.Ile789= Multiple submitters hyperaldosteronism, familial, type IV
• p.Ile830= Multiple submitters idiopathic generalized epilepsy
• p.Ile926= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Ile964= Multiple submitters idiopathic generalized epilepsy
• p.Leu1076= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu1154= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Leu1301= Multiple submitters idiopathic generalized epilepsy
• p.Leu1366= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu1423= Multiple submitters Inborn genetic diseases
• p.Leu15= Multiple submitters idiopathic generalized epilepsy
• p.Leu1621= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Leu1649= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu1684= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu1832= Multiple submitters idiopathic generalized epilepsy
• p.Leu1914= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu2012= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Leu2132= Multiple submitters idiopathic generalized epilepsy
• p.Leu2261= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu230= Multiple submitters Inborn genetic diseases
• p.Leu236= Multiple submitters Inborn genetic diseases
• p.Leu275= Multiple submitters idiopathic generalized epilepsy
• p.Leu377= Multiple submitters idiopathic generalized epilepsy
• p.Leu401= Multiple submitters Inborn genetic diseases
• p.Leu413= Multiple submitters idiopathic generalized epilepsy
• p.Leu441= Multiple submitters idiopathic generalized epilepsy
• p.Leu46= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Leu604= Multiple submitters hyperaldosteronism, familial, type IV
• p.Leu786= Multiple submitters idiopathic generalized epilepsy
• p.Leu94= Multiple submitters idiopathic generalized epilepsy
• p.Leu980= Multiple submitters idiopathic generalized epilepsy
• p.Lys1455= Multiple submitters hyperaldosteronism, familial, type IV
• p.Lys1918= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe1038= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe1228= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Phe1305= Multiple submitters idiopathic generalized epilepsy
• p.Phe1339= Multiple submitters idiopathic generalized epilepsy
• p.Phe1487= Multiple submitters idiopathic generalized epilepsy
• p.Phe161= Multiple submitters idiopathic generalized epilepsy
• p.Phe1756= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe176= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe1771= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Phe1791= Multiple submitters idiopathic generalized epilepsy
• p.Phe1843= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe238= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe239= Multiple submitters idiopathic generalized epilepsy
• p.Phe244= Multiple submitters idiopathic generalized epilepsy
• p.Phe274= Multiple submitters hyperaldosteronism, familial, type IV
• p.Phe399= Multiple submitters idiopathic generalized epilepsy
• p.Phe860= Multiple submitters idiopathic generalized epilepsy
• p.Phe937= Multiple submitters idiopathic generalized epilepsy
• p.Phe995= Multiple submitters idiopathic generalized epilepsy
• p.Pro1113= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro1186= Multiple submitters Inborn genetic diseases
• p.Pro1210Leu Multiple submitters idiopathic generalized epilepsy
• p.Pro1429= Multiple submitters idiopathic generalized epilepsy
• p.Pro1833= Multiple submitters idiopathic generalized epilepsy
• p.Pro1837= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro1888= Multiple submitters idiopathic generalized epilepsy
• p.Pro1906= Multiple submitters idiopathic generalized epilepsy
• p.Pro1972= Multiple submitters idiopathic generalized epilepsy
• p.Pro2048= Multiple submitters Inborn genetic diseases
• p.Pro2120= Multiple submitters idiopathic generalized epilepsy
• p.Pro2124Leu Multiple submitters idiopathic generalized epilepsy
• p.Pro2147= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro2190= Multiple submitters idiopathic generalized epilepsy
• p.Pro2196= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro2206= Multiple submitters idiopathic generalized epilepsy
• p.Pro2221= Multiple submitters idiopathic generalized epilepsy
• p.Pro2270= Multiple submitters idiopathic generalized epilepsy
• p.Pro277= Multiple submitters idiopathic generalized epilepsy
• p.Pro33= Multiple submitters idiopathic generalized epilepsy
• p.Pro36= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro539= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro541= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro648= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro661= Multiple submitters Inborn genetic diseases
• p.Pro686= Multiple submitters epilepsy, childhood absence, susceptibility to, 6
• p.Pro701= Multiple submitters hyperaldosteronism, familial, type IV
• p.Pro849= Multiple submitters idiopathic generalized epilepsy
• p.Pro856= Multiple submitters epilepsy, childhood absence, susceptibility to, 6