Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 SCN1A P35498 p.Ala23Val rs139397227 variant of unknown significance
Detail
0.30 (T)
0 (N)
N
2 SCN1A P35498 p.Arg27Thr rs121917906 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.61 (T)
0.009 (N)
N
3 SCN1A P35498 p.Phe63Leu rs121917907 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.65 (T)
0.122 (N)
N
4 SCN1A P35498 p.Ser74Pro rs121917931 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.43 (T)
0.966 (D)
N
5 SCN1A P35498 p.Glu78Asp rs121917933 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.49 (T)
0 (N)
N
6 SCN1A P35498 p.Asp79His rs121917982 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.10 (T)
0.821 (D)
N
7 SCN1A P35498 p.Tyr84Cys rs121917964 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.20 (T)
0.417 (N)
N
8 SCN1A P35498 p.Phe90Ser rs121918733 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.41 (T)
0.026 (N)
N
9 SCN1A P35498 p.Ile91Thr rs121918734 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.45 (T)
0.059 (N)
N
10 SCN1A P35498 p.Arg101Gln rs121917918 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.30 (T)
0.369 (N)
N
11 SCN1A P35498 p.Arg101Trp rs121917965 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.19 (T)
0.982 (D)
N
12 SCN1A P35498 p.Ser103Gly rs121918743 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.35 (T)
0.251 (N)
N
13 SCN1A P35498 p.Thr112Ile rs121918745 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.16 (T)
0.002 (N)
N
14 SCN1A P35498 p.Arg118Ser rs121917959 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.271 (N)
N
15 SCN1A P35498 p.Ile124Asn rs121918761 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.49 (T)
0.275 (N)
N
16 SCN1A P35498 p.His127Asp rs148442069 variant of unknown significance
Detail
0.52 (T)
0.011 (N)
N
17 SCN1A P35498 p.Met145Thr rs121918631 Familial febrile convulsions type 3A (FEB3A) [MIM:604403]
Detail
0.00 (D)
0.112 (N)
N
18 SCN1A P35498 p.Thr162Pro rs121917934 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.22 (T)
0.974 (D)
N
19 SCN1A P35498 p.Ile171Lys rs121918766 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.03 (D)
0.268 (N)
N
20 SCN1A P35498 p.Ala175Thr rs121918767 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.05 (D)
0.002 (N)
N
21 SCN1A P35498 p.Gly177Glu rs121918770 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.971 (D)
N
22 SCN1A P35498 p.Asp188Val rs121917953 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.00 (D)
0.759 (D)
N
23 SCN1A P35498 p.Trp190Arg rs121918773 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.882 (D)
N
24 SCN1A P35498 p.Asn191Tyr rs121918762 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.952 (D)
N
25 SCN1A P35498 p.Asp194Asn rs121917935 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.05 (T)
0.944 (D)
N
26 SCN1A P35498 p.Thr199Arg rs121917983 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.16 (T)
0.608 (D)
N
27 SCN1A P35498 p.Thr217Lys rs121917936 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
0.597 (D)
N
28 SCN1A P35498 p.Thr226Met rs121917984 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.15 (T)
0.997 (D)
N
29 SCN1A P35498 p.Ile227Ser rs121917937 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.003 (N)
N
30 SCN1A P35498 p.Ala239Thr rs121917985 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.27 (T)
0.998 (D)
N
31 SCN1A P35498 p.Ala239Val rs121917909 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.04 (D)
0.998 (D)
N
32 SCN1A P35498 p.Ile252Asn rs121918780 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.998 (D)
N
33 SCN1A P35498 p.Ser259Arg rs121918735 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.36 (T)
0.998 (D)
N
34 SCN1A P35498 p.Gly265Trp rs121918749 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
35 SCN1A P35498 p.Trp280Arg rs121917938 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.50 (T)
1 (D)
N
36 SCN1A P35498 p.Leu287Val rs138357595 variant of unknown significance
Detail
0.47 (T)
0.105 (N)
N
37 SCN1A P35498 p.Thr297Ile rs121918771 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.20 (T)
0.939 (D)
N
38 SCN1A P35498 p.Arg322Ile rs121917928 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.21 (T)
0.095 (N)
N
39 SCN1A P35498 p.Gly343Asp rs121918753 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.22 (T)
1 (D)
N
40 SCN1A P35498 p.Arg356Gly rs121917920 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.38 (T)
0.999 (D)
N
41 SCN1A P35498 p.Pro358Thr rs121917923 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
1 (D)
N
42 SCN1A P35498 p.Asp366Glu rs121917958 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.997 (D)
N
43 SCN1A P35498 p.Arg377Gln rs121917957 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
1.00 (T)
0.999 (D)
N
44 SCN1A P35498 p.Phe383Leu rs121917939 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.61 (T)
0.593 (D)
N
45 SCN1A P35498 p.Tyr388His rs121918781 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.14 (T)
1 (D)
N
46 SCN1A P35498 p.Arg393Cys rs121917929 variant of unknown significance
Detail
0.06 (T)
1 (D)
N
47 SCN1A P35498 p.Arg393Ser rs121917929 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.75 (T)
0.999 (D)
N
48 SCN1A P35498 p.Arg393His rs121917927 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.15 (T)
1 (D)
N
49 SCN1A P35498 p.Ala395Pro rs121917988 variant of unknown significance
Detail
0.20 (T)
1 (D)
N
50 SCN1A P35498 p.Phe403Leu rs121917966 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.987 (D)
N
51 SCN1A P35498 p.Val406Phe rs121918768 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.25 (T)
0.999 (D)
N
52 SCN1A P35498 p.Tyr413Asn rs121917967 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
53 SCN1A P35498 p.Val422Glu rs121917989 variant of unknown significance
Detail
0.00 (D)
0.998 (D)
N
54 SCN1A P35498 p.Tyr426Asn rs121917940 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.999 (D)
N
55 SCN1A P35498 p.Thr463Ala rs112157737 variant of unknown significance
Detail
0.84 (T)
0 (N)
N
56 SCN1A P35498 p.Glu468Lys rs138602926 variant of unknown significance
Detail
0.95 (T)
0.021 (N)
N
57 SCN1A P35498 p.Arg500Trp rs141188608 variant of unknown significance
Detail
0.02 (D)
0.999 (D)
N
58 SCN1A P35498 p.Asp518Glu rs138587241 variant of unknown significance
Detail
1.00 (T)
0.261 (N)
N
59 SCN1A P35498 p.Arg530Met rs149404623 variant of unknown significance
Detail
0.11 (T)
0.045 (N)
N
60 SCN1A P35498 p.Arg535His rs184524479 variant of unknown significance
Detail
(-)
(-)
N
61 SCN1A P35498 p.Arg542Gln rs121918817 variant of unknown significance
Detail
0.59 (T)
0.238 (N)
N
62 SCN1A P35498 p.Gln554Arg rs13424709 variant of unknown significance
Detail
0.51 (T)
0.385 (N)
N
63 SCN1A P35498 p.Asp583Val rs28934003 variant of unknown significance
Detail
0.28 (T)
0.975 (D)
N
64 SCN1A P35498 p.Thr597Asn rs149715258 variant of unknown significance
Detail
0.59 (T)
0.599 (D)
N
65 SCN1A P35498 p.Arg604His rs121918769 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.16 (T)
0.671 (D)
N
66 SCN1A P35498 p.Arg604Cys rs148371904 variant of unknown significance
Detail
0.06 (T)
1 (D)
N
67 SCN1A P35498 p.Ser626Gly rs121917990 variant of unknown significance
Detail
0.41 (T)
0.413 (N)
N
68 SCN1A P35498 p.Arg630Gln rs145670933 variant of unknown significance
Detail
0.63 (T)
0.248 (N)
N
69 SCN1A P35498 p.Arg712Gln rs138799232 variant of unknown significance
Detail
0.59 (T)
1 (D)
N
70 SCN1A P35498 p.Leu783Pro rs121917968 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.09 (T)
0.994 (D)
N
71 SCN1A P35498 p.Tyr790Cys rs121918782 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.09 (T)
0.999 (D)
N
72 SCN1A P35498 p.Asn797Ser rs142192023 variant of unknown significance
Detail
0.74 (T)
0 (N)
N
73 SCN1A P35498 p.Thr808Ser rs121918758 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.28 (T)
0.004 (N)
N
74 SCN1A P35498 p.Thr812Arg rs121917941 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.13 (T)
0.431 (N)
N
75 SCN1A P35498 p.Glu846Lys rs121917942 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.03 (D)
0.898 (D)
N
76 SCN1A P35498 p.Arg859Cys rs121918784 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.00 (D)
1 (D)
N
77 SCN1A P35498 p.Arg862Gln rs121918785 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.06 (T)
1 (D)
N
78 SCN1A P35498 p.Thr875Lys rs121918623 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.13 (T)
1 (D)
N
79 SCN1A P35498 p.Thr875Met rs121918623 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.05 (T)
1 (D)
N
80 SCN1A P35498 p.Ser886Pro rs563792 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
81 SCN1A P35498 p.Val901Ile rs12617205 variant of unknown significance
Detail
1.00 (T)
0.885 (D)
N
82 SCN1A P35498 p.Phe902Cys rs121918787 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
1 (D)
N
83 SCN1A P35498 p.Val906Met rs185760342 variant of unknown significance
Detail
(-)
(-)
N
84 SCN1A P35498 p.Ala924Thr rs141950573 variant of unknown significance
Detail
0.57 (T)
0.012 (N)
N
85 SCN1A P35498 p.Gln928His rs138376436 variant of unknown significance
Detail
0.12 (T)
0.072 (N)
N
86 SCN1A P35498 p.Arg931Cys rs121918788 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
87 SCN1A P35498 p.Met934Ile rs121918774 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.03 (D)
1 (D)
N
88 SCN1A P35498 p.His939Tyr rs121918736 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.37 (T)
1 (D)
N
89 SCN1A P35498 p.His939Gln rs121918795 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.72 (T)
1 (D)
N
90 SCN1A P35498 p.Leu942Pro rs121917943 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
91 SCN1A P35498 p.Val944Ala rs121917969 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.09 (T)
1 (D)
N
92 SCN1A P35498 p.Val944Glu - Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
93 SCN1A P35498 p.Phe945Leu rs121917970 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.09 (T)
0.995 (D)
N
94 SCN1A P35498 p.Arg946His rs121917971 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
1 (D)
N
95 SCN1A P35498 p.Arg946Cys rs121918775 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
96 SCN1A P35498 p.Arg946Ser rs121918775 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.11 (T)
1 (D)
N
97 SCN1A P35498 p.Gly950Glu rs121917972 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.03 (D)
1 (D)
N
98 SCN1A P35498 p.Trp952Gly rs121918737 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
99 SCN1A P35498 p.Glu954Lys rs121918786 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.54 (T)
1 (D)
N
100 SCN1A P35498 p.Trp957Leu rs121917917 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.11 (T)
1 (D)
N
101 SCN1A P35498 p.Cys959Arg rs121918796 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.33 (T)
1 (D)
N
102 SCN1A P35498 p.Met960Val rs121918750 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.13 (T)
0.888 (D)
N
103 SCN1A P35498 p.Val962Ala rs138858653 variant of unknown significance
Detail
0.86 (T)
0.998 (D)
N
104 SCN1A P35498 p.Met973Val rs121917991 variant of unknown significance
Detail
0.73 (T)
0.135 (N)
N
105 SCN1A P35498 p.Gly979Arg rs121918754 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
106 SCN1A P35498 p.Val983Ala rs121918756 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.01 (D)
0.998 (D)
N
107 SCN1A P35498 p.Asn985Ile rs121918747 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
0.975 (D)
N
108 SCN1A P35498 p.Leu986Phe rs121918625 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
109 SCN1A P35498 p.Asn1011Ile rs121918759 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.18 (T)
1 (D)
N
110 SCN1A P35498 p.His1020Gln rs150154265 variant of unknown significance
Detail
0.59 (T)
0 (N)
N
111 SCN1A P35498 p.Ile1034Thr rs121918818 variant of unknown significance
Detail
0.58 (T)
0.161 (N)
N
112 SCN1A P35498 p.Gln1035His rs144013543 variant of unknown significance
Detail
0.16 (T)
0.315 (N)
N
113 SCN1A P35498 p.Ala1067Thr rs2298771 variant of unknown significance
Detail
0.58 (T)
0 (N)
N
114 SCN1A P35498 p.Phe1124Cys rs147970328 variant of unknown significance
Detail
0.14 (T)
0.999 (D)
N
115 SCN1A P35498 p.Thr1174Ser rs121918799 Migraine familial hemiplegic type 3 (FHM3) [MIM:609634]
Detail
0.72 (T)
0 (N)
N
116 SCN1A P35498 p.Asn1195Tyr rs143193348 variant of unknown significance
Detail
0.06 (T)
0.157 (N)
N
117 SCN1A P35498 p.Trp1204Arg rs121917930 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.54 (T)
1 (D)
N
118 SCN1A P35498 p.Leu1207Pro rs121917963 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
0.996 (D)
N
119 SCN1A P35498 p.Thr1210Lys rs121918738 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.47 (T)
0.999 (D)
N
120 SCN1A P35498 p.Ser1231Arg rs121918746 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
121 SCN1A P35498 p.Ser1231Thr rs121918800 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.18 (T)
1 (D)
N
122 SCN1A P35498 p.Gly1233Arg rs121917911 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
1 (D)
N
123 SCN1A P35498 p.Glu1238Asp rs121917973 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.36 (T)
0.976 (D)
N
124 SCN1A P35498 p.Arg1245Gln rs121917912 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.57 (T)
0.999 (D)
N
125 SCN1A P35498 p.Thr1250Met rs140731963 variant of unknown significance
Detail
0.10 (T)
0.963 (D)
N
126 SCN1A P35498 p.Thr1260Pro rs121918739 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.11 (T)
0.999 (D)
N
127 SCN1A P35498 p.Phe1263Leu rs121918752 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
128 SCN1A P35498 p.Leu1265Pro rs121918794 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.998 (D)
N
129 SCN1A P35498 p.Lys1270Thr rs121918626 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.00 (D)
1 (D)
N
130 SCN1A P35498 p.Leu1287Pro rs121918740 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
131 SCN1A P35498 p.Thr1300Ile rs146878122 variant of unknown significance
Detail
0.42 (T)
0.001 (N)
N
132 SCN1A P35498 p.Glu1308Asp rs121917910 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.72 (T)
0.023 (N)
N
133 SCN1A P35498 p.Leu1309Phe rs121918801 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.78 (T)
0.228 (N)
N
134 SCN1A P35498 p.Lys1313Gln rs150017890 variant of unknown significance
Detail
0.15 (T)
0.999 (D)
N
135 SCN1A P35498 p.Ala1326Pro rs121918803 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.11 (T)
1 (D)
N
136 SCN1A P35498 p.Val1335Met rs121917960 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.24 (T)
1 (D)
N
137 SCN1A P35498 p.Val1353Leu rs121917954 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.07 (T)
1 (D)
N
138 SCN1A P35498 p.Leu1355Pro rs121918776 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.07 (T)
1 (D)
N
139 SCN1A P35498 p.Trp1358Ser rs121917961 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.06 (T)
1 (D)
N
140 SCN1A P35498 p.Leu1359Gln rs112767060 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
141 SCN1A P35498 p.Val1366Ile rs121918805 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.08 (T)
1 (D)
N
142 SCN1A P35498 p.Asn1367Lys rs121918760 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.16 (T)
1 (D)
N
143 SCN1A P35498 p.Val1390Met rs121917986 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.13 (T)
0.993 (D)
N
144 SCN1A P35498 p.Cys1396Gly rs121917987 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.36 (T)
1 (D)
N
145 SCN1A P35498 p.Asn1414Tyr rs121917925 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
146 SCN1A P35498 p.Tyr1422Cys rs121917913 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
147 SCN1A P35498 p.Leu1426Arg rs121917944 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
148 SCN1A P35498 p.Val1428Ala rs121918627 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.01 (D)
0.999 (D)
N
149 SCN1A P35498 p.Gly1433Arg rs121917908 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
150 SCN1A P35498 p.Gly1433Glu rs121918741 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
151 SCN1A P35498 p.Trp1434Arg rs121918789 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
152 SCN1A P35498 p.Ala1441Pro rs121917974 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.04 (D)
1 (D)
N
153 SCN1A P35498 p.Gln1450Lys rs121918806 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.10 (T)
0.996 (D)
N
154 SCN1A P35498 p.Gln1450Arg rs121918790 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.06 (T)
0.996 (D)
N
155 SCN1A P35498 p.Pro1451Leu rs121917945 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
156 SCN1A P35498 p.Leu1461Ile rs121918772 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.65 (T)
0.124 (N)
N
157 SCN1A P35498 p.Tyr1462Cys rs121917962 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
158 SCN1A P35498 p.Phe1463Ser rs121917946 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
159 SCN1A P35498 p.Ile1465Val rs138231868 variant of unknown significance
Detail
1.00 (T)
0.002 (N)
N
160 SCN1A P35498 p.Gly1470Trp rs121917924 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
161 SCN1A P35498 p.Leu1475Ser rs121917947 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
162 SCN1A P35498 p.Gly1480Val rs121917996 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
163 SCN1A P35498 p.Gln1489Lys rs121918628 Migraine familial hemiplegic type 3 (FHM3) [MIM:609634]
Detail
0.98 (T)
0.996 (D)
N
164 SCN1A P35498 p.Gln1489His rs121918633 Migraine familial hemiplegic type 3 (FHM3) [MIM:609634]
Detail
0.24 (T)
0.883 (D)
N
165 SCN1A P35498 p.Phe1499Leu rs121918632 Migraine familial hemiplegic type 3 (FHM3) [MIM:609634]
Detail
0.70 (T)
0.976 (D)
N
166 SCN1A P35498 p.Leu1514Ser rs121918764 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.11 (T)
0.991 (D)
N
167 SCN1A P35498 p.Ser1516Leu rs139300715 variant of unknown significance
Detail
0.33 (T)
0.998 (D)
N
168 SCN1A P35498 p.Pro1524Thr rs143088184 variant of unknown significance
Detail
0.58 (T)
1 (D)
N
169 SCN1A P35498 p.Phe1543Ser rs121917992 variant of unknown significance
Detail
0.00 (D)
0.999 (D)
N
170 SCN1A P35498 p.Ile1545Val rs121917975 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.51 (T)
0.127 (N)
N
171 SCN1A P35498 p.Thr1571Ile rs112547129 variant of unknown significance
Detail
0.35 (T)
0 (N)
N
172 SCN1A P35498 p.Arg1575Cys rs121918807 variant of unknown significance
Detail
0.17 (T)
0.03 (N)
N
173 SCN1A P35498 p.Gly1586Glu rs121918742 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.04 (D)
0.964 (D)
N
174 SCN1A P35498 p.Cys1588Arg rs121917919 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.10 (T)
0.991 (D)
N
175 SCN1A P35498 p.Arg1596Cys rs121917993 variant of unknown significance
Detail
0.04 (D)
1 (D)
N
176 SCN1A P35498 p.Asp1608Tyr rs121917915 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
177 SCN1A P35498 p.Val1611Phe rs121918630 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.01 (D)
0.999 (D)
N
178 SCN1A P35498 p.Val1612Ile rs121918808 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.13 (T)
0.896 (D)
N
179 SCN1A P35498 p.Val1630Met rs121917914 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.27 (T)
0.992 (D)
N
180 SCN1A P35498 p.Pro1632Ser rs121918755 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.49 (T)
0.998 (D)
N
181 SCN1A P35498 p.Arg1636Gln rs121917995 variant of unknown significance
Detail
0.56 (T)
0.965 (D)
N
182 SCN1A P35498 p.Val1637Glu rs121918810 variant of unknown significance
Detail
0.01 (D)
0.999 (D)
N
183 SCN1A P35498 p.Arg1645Gln rs121917976 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
184 SCN1A P35498 p.Arg1648Cys rs121918791 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
185 SCN1A P35498 p.Arg1648His rs121918622 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.08 (T)
0.987 (D)
N
186 SCN1A P35498 p.Leu1649Gln - Migraine familial hemiplegic type 3 (FHM3) [MIM:609634]
Detail
0.00 (D)
0.961 (D)
N
187 SCN1A P35498 p.Ile1656Met rs121917955 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.16 (T)
0.961 (D)
N
188 SCN1A P35498 p.Arg1657Cys rs121918811 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.00 (D)
1 (D)
N
189 SCN1A P35498 p.Arg1657His rs121917994 variant of unknown significance
Detail
0.00 (D)
0.992 (D)
N
190 SCN1A P35498 p.Thr1658Arg rs121917922 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.57 (T)
0.998 (D)
N
191 SCN1A P35498 p.Thr1658Met rs121917922 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.12 (T)
1 (D)
N
192 SCN1A P35498 p.Phe1661Ser rs121918797 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.46 (T)
0.612 (D)
N
193 SCN1A P35498 p.Met1664Lys rs121918765 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.07 (T)
0.419 (N)
N
194 SCN1A P35498 p.Pro1668Ala rs121917948 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
195 SCN1A P35498 p.Gly1674Arg rs121918792 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.35 (T)
0.906 (D)
N
196 SCN1A P35498 p.Ala1685Asp rs121918744 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.992 (D)
N
197 SCN1A P35498 p.Ala1685Val rs121918744 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.00 (D)
0.992 (D)
N
198 SCN1A P35498 p.Phe1687Ser rs121917932 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.01 (D)
0.998 (D)
N
199 SCN1A P35498 p.Phe1692Ser rs121918778 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
200 SCN1A P35498 p.Tyr1694Cys rs121918777 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.13 (T)
1 (D)
N
201 SCN1A P35498 p.Phe1707Val rs121917977 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.998 (D)
N
202 SCN1A P35498 p.Thr1709Ile rs121918629 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
Detail
0.01 (D)
0.998 (D)
N
203 SCN1A P35498 p.Ser1713Asn rs121918816 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.99 (D)
N
204 SCN1A P35498 p.Met1714Arg rs121917949 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.986 (D)
N
205 SCN1A P35498 p.Cys1716Arg rs121917926 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.03 (D)
0.997 (D)
N
206 SCN1A P35498 p.Thr1721Arg rs121917978 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
1 (D)
N
207 SCN1A P35498 p.Trp1726Arg rs121917979 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
208 SCN1A P35498 p.Asp1742Gly rs121918812 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
Detail
0.21 (T)
0.991 (D)
N
209 SCN1A P35498 p.Gly1749Glu rs121918798 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.44 (T)
1 (D)
N
210 SCN1A P35498 p.Cys1756Gly rs121918809 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.07 (T)
0.999 (D)
N
211 SCN1A P35498 p.Gly1762Glu rs121917950 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
1 (D)
N
212 SCN1A P35498 p.Ser1773Phe rs121917951 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.68 (T)
1 (D)
N
213 SCN1A P35498 p.Met1780Thr rs121917952 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.06 (T)
1 (D)
N
214 SCN1A P35498 p.Tyr1781Cys rs121918779 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.01 (D)
0.994 (D)
N
215 SCN1A P35498 p.Ile1782Met rs121918763 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
216 SCN1A P35498 p.Ala1783Thr rs121917980 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
1 (D)
N
217 SCN1A P35498 p.Ala1783Val rs121917921 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.00 (D)
0.991 (D)
N
218 SCN1A P35498 p.Glu1787Lys rs121917916 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
2kav
A
 Detail
0.20 (T)
1 (D)
D ( Predicted by rules : 1 )
3 SCN1A P35498 p.Glu1795Lys rs121918813 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
2kav
A
 Detail
0.64 (T)
0.984 (D)
D ( Predicted by rules : 1 )
3 SCN1A P35498 p.Ala1797Val rs141734753 variant of unknown significance
2kav
A
 Detail
0.25 (T)
0.977 (D)
N
4 SCN1A P35498 p.Phe1808Leu rs121918757 Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
2kav
A
 Detail
0.10 (T)
1 (D)
D ( Predicted by rules : 1 )
3 SCN1A P35498 p.Trp1812Gly rs121918751 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
2kav
A
 Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 SCN1A P35498 p.Phe1831Ser rs121918748 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
2kav
A
 Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 SCN1A P35498 p.Pro1837Leu rs149225252 variant of unknown significance
2kav
A
 Detail
0.55 (T)
0.674 (D)
N
6 SCN1A P35498 p.Met1852Thr rs121918783 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
2kav
A
 Detail
0.26 (T)
1 (D)
D ( Predicted by rules : 1 )
3 SCN1A P35498 p.Met1856Ile rs144691638 variant of unknown significance
2kav
A
 Detail
1.00 (T)
0.495 (N)
N
4 SCN1A P35498 p.Val1857Leu rs121918814 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
2kav
A
 Detail
0.65 (T)
0.979 (D)
N
5 SCN1A P35498 p.Asp1866Tyr rs121918815 Generalized epilepsy with febrile seizures plus type 2 (GEFS+2) [MIM:604403]
2kav
A
 Detail
0.42 (T)
1 (D)
N
6 SCN1A P35498 p.Glu1878Gln rs148703212 variant of unknown significance
2kav
A
 Detail
0.58 (T)
0.723 (D)
N
7 SCN1A P35498 p.Ser1879Asn rs112244937 variant of unknown significance
2kav
A
 Detail
0.49 (T)
0.798 (D)
N
8 SCN1A P35498 p.Glu1881Asp rs121918804 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
2kav
A
 Detail
0.62 (T)
0.165 (N)
N
9 SCN1A P35498 p.Thr1909Ile rs121918793 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.18 (T)
1 (D)
N
10 SCN1A P35498 p.Ile1922Thr rs121917981 Severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]
Detail
0.02 (D)
1 (D)
N
11 SCN1A P35498 p.Arg1924His rs3749029 variant of unknown significance
Detail
0.11 (T)
0.991 (D)
N
12 SCN1A P35498 p.Arg1928Gly rs121917956 variant of unknown significance
Detail
0.22 (T)
0.099 (N)
N
13 SCN1A P35498 p.Ile1955Thr rs35735053 variant of unknown significance
Detail
0.59 (T)
0 (N)
N
14 SCN1A P35498 p.Glu1957Gly rs121918802 variant of unknown significance
Detail
0.38 (T)
0 (N)
N
15 SCN1A P35498 p.Ala1981Asp rs148986284 variant of unknown significance
Detail
0.62 (T)
0.001 (N)
N
16 SCN1A P35498 p.Pro1984His rs146733308 variant of unknown significance
Detail
0.29 (T)
0.998 (D)
N
17 SCN1A P35498 p.Glu2004Lys rs143005035 variant of unknown significance
Detail
0.92 (T)
0 (N)
N