Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6326
Gene name	Sodium voltage-gated channel alpha subunit 2
Gene symbol	SCN2A
Synonyms (NCBI Gene)	BFIC3BFIS3BFNISDEE11EA9EIEE11HBAHBSCIHBSCIINAC2Na(v)1.2Nav1.2SCN2A1SCN2A2
Chromosome	2
Chromosome location	2q24.3
Summary	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium

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Show/Hide all (239)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6706924	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs121917748	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121917749	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917750	C>G	Pathogenic	Coding sequence variant, missense variant
rs121917751	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121917752	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, genic upstream transcript variant
rs121917753	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121917754	C>A	Pathogenic	Coding sequence variant, missense variant
rs138497939	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs139815570	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs141153302	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142128956	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143765389	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs144325450	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144814658	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs147084515	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147522594	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149534277	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs149859004	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs181327458	C>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained
rs184769423	A>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs185590667	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs187731029	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs190111194	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs191955969	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200138205	G>A,C	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs200603552	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs367546924	C>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs368887417	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs373913233	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs377063535	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906683	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs387906684	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs387906685	A>C,G	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs387906686	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs387906687	A>G	Pathogenic	Initiator codon variant, genic upstream transcript variant, coding sequence variant, missense variant
rs529842407	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs558887330	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs561375550	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs571408286	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587780450	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs746163041	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs752845880	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755003900	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs767592553	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786205635	TACT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs794727003	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs794727152	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs794727444	G>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053113	G>T	Pathogenic	Splice donor variant
rs796053114	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053115	G>A	Pathogenic	Coding sequence variant, missense variant
rs796053116	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053118	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053119	G>C	Pathogenic	Coding sequence variant, missense variant
rs796053120	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053122	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs796053124	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053126	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs796053128	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796053129	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053130	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053131	T>A	Pathogenic	Coding sequence variant, missense variant
rs796053132	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053133	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053134	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs796053135	A>G	Pathogenic	Coding sequence variant, missense variant
rs796053136	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053137	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs796053138	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs796053140	A>G	Likely-pathogenic	Intron variant
rs796053143	T>A,G	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796053144	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053149	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053150	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053151	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053152	T>C	Pathogenic	Coding sequence variant, missense variant
rs796053154	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053155	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053156	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053157	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs796053160	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053162	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053166	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, synonymous variant
rs796053169	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs796053171	G>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs796053175	G>C,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053178	C>G,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs796053180	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053181	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053182	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053183	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053184	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs796053192	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs796053193	ATT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs796053194	GAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs796053196	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796053197	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053198	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796053203	T>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs796053206	GC>TT	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs797045942	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045943	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs869312663	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869312664	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs879253767	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886039461	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886039648	G>A	Pathogenic	Splice donor variant
rs886039710	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886041259	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs886043250	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057517853	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517854	T>C	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1057518048	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518111	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518117	G>A,C,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1057518373	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518658	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519010	GGAGTGAATCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519523	A>G	Pathogenic	Missense variant, coding sequence variant
rs1057519524	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519525	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057519526	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519527	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519528	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057519617	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057520413	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057520844	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057521223	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057521747	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs1057523696	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523734	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523786	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524059	G>T	Pathogenic	Missense variant, coding sequence variant
rs1057524164	A>G,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057524573	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060503101	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060503102	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064793850	TGGCAATTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794005	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1064794721	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794730	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1064795014	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795018	C>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1064795159	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1064795576	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795832	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796123	AG>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1064796203	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796620	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796691	T>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1085307500	C>T	Pathogenic	Coding sequence variant, stop gained
rs1085307541	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307542	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307898	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691361	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691466	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691927	G>C	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1135401811	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1177406324	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1287017958	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1553461660	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553461662	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553462134	C>A,G,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1553462224	C>-	Pathogenic	Stop gained, coding sequence variant
rs1553462227	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463032	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553463074	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553463096	G>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs1553463119	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553463464	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553463513	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463516	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553463594	A>T	Pathogenic	Coding sequence variant, missense variant
rs1553463602	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553463718	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463775	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553463850	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553564139	A>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, initiator codon variant, missense variant
rs1553564144	C>G	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553564400	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1553567304	A>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553567347	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553567473	A>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553567561	T>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553567864	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553568045	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553568927	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553568999	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1553569054	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1553569662	AGAA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553569739	CA>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553571901	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1553574522	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1553574729	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553574733	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553578503	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553579225	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553579282	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553579305	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553579488	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553579500	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553583550	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553583659	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553583712	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553584053	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553590192	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553593030	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553593578	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553593589	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553593676	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558885489	C>G	Pathogenic	Coding sequence variant, missense variant
rs1558885691	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558886168	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559352550	A>G	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1559353540	AGGATAAAAG>-	Pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant
rs1559376694	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574525321	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1574554892	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1574556643	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant
rs1574567728	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1574571769	A>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1574611024	A>G	Pathogenic	Coding sequence variant, missense variant
rs1574636716	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1574641366	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1574641522	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574641605	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574691534	AACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574697769	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574716488	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1574716524	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1574731232	T>G	Pathogenic	Stop gained, coding sequence variant
rs1574731380	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746733	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746759	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746935	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574751309	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574752700	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574754680	C>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029544	hsa-miR-26b-5p	Microarray	19088304
MIRT1329791	hsa-miR-3545-3p	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT1329793	hsa-miR-4680-5p	CLIP-seq
MIRT1329794	hsa-miR-1205	CLIP-seq
MIRT1329795	hsa-miR-1286	CLIP-seq
MIRT1329796	hsa-miR-200b	CLIP-seq
MIRT1329797	hsa-miR-200c	CLIP-seq
MIRT1329798	hsa-miR-217	CLIP-seq
MIRT1329799	hsa-miR-30a	CLIP-seq
MIRT1329800	hsa-miR-30b	CLIP-seq
MIRT1329801	hsa-miR-30c	CLIP-seq
MIRT1329802	hsa-miR-30d	CLIP-seq
MIRT1329803	hsa-miR-30e	CLIP-seq
MIRT1329804	hsa-miR-3163	CLIP-seq
MIRT1329805	hsa-miR-3646	CLIP-seq
MIRT1329806	hsa-miR-3662	CLIP-seq
MIRT1329807	hsa-miR-369-3p	CLIP-seq
MIRT1329808	hsa-miR-374a	CLIP-seq
MIRT1329809	hsa-miR-374b	CLIP-seq
MIRT1329810	hsa-miR-4275	CLIP-seq
MIRT1329811	hsa-miR-429	CLIP-seq
MIRT1329812	hsa-miR-4418	CLIP-seq
MIRT1329813	hsa-miR-4426	CLIP-seq
MIRT1329814	hsa-miR-4647	CLIP-seq
MIRT1329815	hsa-miR-4662b	CLIP-seq
MIRT1329816	hsa-miR-4722-5p	CLIP-seq
MIRT1329817	hsa-miR-499-3p	CLIP-seq
MIRT1329818	hsa-miR-499a-3p	CLIP-seq
MIRT1329819	hsa-miR-509-3-5p	CLIP-seq
MIRT1329820	hsa-miR-509-5p	CLIP-seq
MIRT1329821	hsa-miR-633	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097753	hsa-miR-136	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	1325650
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	17021166, 28256214, 29844171
GO:0005248	Function	Voltage-gated sodium channel activity	ISS
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	36950384
GO:0005516	Function	Calmodulin binding	IMP	25232683
GO:0005886	Component	Plasma membrane	IDA	1325650, 17021166, 29844171
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0007399	Process	Nervous system development	ISS
GO:0007613	Process	Memory	ISS
GO:0008627	Process	Intrinsic apoptotic signaling pathway in response to osmotic stress	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0019228	Process	Neuronal action potential	IMP	17021166, 29844171
GO:0019228	Process	Neuronal action potential	ISS
GO:0030424	Component	Axon	TAS	16652168
GO:0033268	Component	Node of Ranvier	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042552	Process	Myelination	ISS
GO:0051402	Process	Neuron apoptotic process	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA

MIM	HGNC	e!Ensembl
182390	10588	ENSG00000136531

Q99250

Protein name

Sodium channel protein type 2 subunit alpha (HBSC II) (Sodium channel protein brain II subunit alpha) (Sodium channel protein type II subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.2)

Protein function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) io

PDB

2KAV , 4JPZ , 4RLY , 6BUT , 6J8E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	128 → 436	Ion transport protein	Family
PF11933	Na_trans_cytopl	505 → 709	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	758 → 993	Ion transport protein	Family
PF06512	Na_trans_assoc	997 → 1203	Sodium ion transport-associated	Family
PF00520	Ion_trans	1207 → 1483	Ion transport protein	Family
PF00520	Ion_trans	1530 → 1787	Ion transport protein	Family

Sequence

MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGK
SLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRK
LAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFC
LEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGA
LIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSL
DGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNP
NYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLI
LAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGI
GVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFS
LEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHST
FEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGP
STLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEE
SRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEH
YPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGL
ANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGM
QLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCL
TVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRK
IREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGS
SVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSS
SEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKT
CYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLK
WVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF
EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVV
NNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQ
PKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNA
MKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMT
NILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFV
SPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMS
NFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGS
SVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYE
VWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFA
FTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYL
LKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTK
PEKEKFEKDKSEKEDKGKDIRESKK

Sequence length

2005

Interactions

View interactions

	KEGG		Reactome
	Taste transduction		Phase 0 - rapid depolarisation

4188

Show/Hide Causal Diseases (46)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Likely pathogenic	rs2105336825	RCV002275921
Autism	Pathogenic	rs181327458, rs1057518658	RCV004698483 RCV000414894
Autism spectrum disorder	Pathogenic; Likely pathogenic	rs1553568833, rs2467933702, rs1553578503	RCV003155987 RCV003128027 RCV003126828
Autism Spectrum Disorder with Intellectual Disability	Likely pathogenic	rs1135401811	RCV000496101
Benign familial infantile epilepsy	Pathogenic; Likely pathogenic	rs1553462132, rs2105247262, rs1553463038, rs1553569010, rs2105276771, rs2105402019, rs121917752, rs121917753	RCV001847361 RCV001847365 RCV001847370 RCV001847371 RCV001847372 RCV001847373 RCV001847597 RCV001847599
Benign familial neonatal-infantile seizures 1	Pathogenic; Likely pathogenic	rs796053137, rs1057524573	RCV003325951 RCV003233637
Benign Neonatal Epilepsy	Pathogenic	rs1057520413	RCV001848748
benign sporadic infantile epilepsy	Likely pathogenic; Pathogenic	rs2468158980, rs121917753	RCV003155984 RCV003155910
benign sporadic neonatal-infantile epilepsy	Likely pathogenic	rs2468008621	RCV003155988
Complex neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs1697364931, rs2105373027, rs2105398463, rs2105247122, rs1553463038, rs2105255398, rs2105403536, rs587780450, rs1553463772, rs1702001950, rs2468159089, rs867663974, rs794727152, rs794727444, rs796053171 View all (82 more)	RCV002319707 RCV002319727 RCV002319728 RCV002319729 RCV003483838 RCV002319730 RCV002319740 RCV001265280 RCV003483876 RCV002319742 RCV002319762 RCV002319764 RCV001265273 RCV001265414 RCV001265144 RCV001265324 RCV002319459 RCV001265320 RCV001265489 RCV001265498 RCV005892198 RCV002319453 RCV002319454 RCV001265271 RCV001265328 RCV002319455 RCV001265491 RCV001265134 RCV001265326 RCV001265496 RCV001265265 RCV002319456 RCV001265490 RCV002319457 RCV003483567 RCV001265401 RCV001265281 RCV005927069 RCV001265145 RCV001265499 RCV001265413 RCV003327346 RCV002319420 RCV002319421 RCV002319422 RCV001265327 RCV005430533 RCV001265495 RCV001265330 RCV002319492 RCV001265266 RCV002319425 RCV002319426 RCV001265272 RCV002319427 RCV001265278 RCV001265410 RCV001265503 RCV006249636 RCV001265492 RCV002319508 RCV001265132 RCV001265400 RCV002319532 RCV001265407 RCV001265494 RCV001265277 RCV001265263 RCV001265269 RCV001265501 RCV001265131 RCV001265321 RCV001265329 RCV001265323 RCV001265279 RCV001265334 RCV003994194 RCV001265319 RCV002319673 RCV001265133 RCV001265264 RCV001265284 RCV001265268 RCV001265408 RCV001265415 RCV001265507 RCV001265322 RCV001265488 RCV001265505 RCV001265275 RCV001265416 RCV001265405 RCV001265270 RCV001265332 RCV001265331 RCV001265267 RCV001265325 RCV001265500 RCV001265493 RCV001265282 RCV001265403 RCV001265508
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs2105255913, rs1701579057, rs2105385811, rs2105402260, rs2105384694, rs2105255370, rs2105373027, rs2105403389, rs2105398463, rs2105385886, rs1702008323, rs2105402821, rs1317894002, rs1553568970, rs2105402331 View all (16 more)	RCV001847342 RCV001847344 RCV001847347 RCV001847349 RCV001847350 RCV001847351 RCV001847352 RCV001847353 RCV001847356 RCV001847357 RCV001847359 RCV001847360 RCV001847362 RCV001847364 RCV001847367 RCV001847368 RCV001847369 RCV002280929 RCV001847815 RCV001847845 RCV001847838 RCV001847842 RCV001847843 RCV001847598 RCV001848749 RCV001848747 RCV001848850 RCV001848910 RCV001849001 RCV001849109 RCV001847214 RCV001847216
Developmental and epileptic encephalopathy, 11	Likely pathogenic; Pathogenic	rs1698670041, rs1553593578, rs2105243497, rs2105385817, rs527688117, rs2105247156, rs1697364931, rs796053180, rs2105259788, rs1553591818, rs2105385903, rs1365774406, rs2105398613, rs1558879863, rs2106151184 View all (297 more)	RCV001313471 RCV001350212 RCV001378217 RCV001379759 RCV001377133 RCV001384183 RCV001382401 RCV001384844 RCV001384198 RCV001387379 RCV001386186 RCV001387540 RCV001387541 RCV001420162 RCV001527406 RCV002568929 RCV005213550 RCV001663397 RCV001730051 RCV001754548 RCV002544193 RCV001775256 RCV005253890 RCV001885387 RCV002545228 RCV001843757 RCV001940221 RCV001989583 RCV002038966 RCV001974057 RCV002048109 RCV001984340 RCV001955692 RCV001966873 RCV001999343 RCV001942827 RCV001943689 RCV002020066 RCV002001745 RCV002035405 RCV002011756 RCV002013811 RCV001941848 RCV002031128 RCV002016420 RCV001970192 RCV001898888 RCV001996076 RCV001996092 RCV001953610 RCV002029438 RCV001952064 RCV001962461 RCV001895216 RCV001983068 RCV002071028 RCV002226581 RCV002272935 RCV003128087 RCV002281607 RCV002287594 RCV002289005 RCV003152796 RCV003099166 RCV003098511 RCV002465399 RCV002465427 RCV002466357 RCV002466358 RCV002466359 RCV002466360 RCV002573599 RCV002471693 RCV002470668 RCV002481177 RCV003093181 RCV000197677 RCV002651525 RCV000176763 RCV002635271 RCV001390241 RCV000640632 RCV002651523 RCV000549343 RCV000190517 RCV001214974 RCV001379442 RCV001852502 RCV001808031 RCV003786904 RCV000578274 RCV000640628 RCV005222816 RCV000763455 RCV000195526 RCV000496128 RCV002514054 RCV001252986 RCV001379123 RCV003325951 RCV001214971 RCV002517894 RCV000679890 RCV000640616 RCV000536734 RCV001852500 RCV000524506 RCV001281369 RCV002690111 RCV002761477 RCV002776069 RCV002823839 RCV002806613 RCV002838862 RCV001390104 RCV000195132 RCV002842714 RCV002851649 RCV002876010 RCV002866679 RCV002852416 RCV002863530 RCV002866294 RCV002898859 RCV002881900 RCV002903198 RCV002867582 RCV002867559 RCV002899420 RCV002937359 RCV002948084 RCV003030811 RCV003016119 RCV002996798 RCV003042997 RCV003042677 RCV003057830 RCV003057968 RCV003035363 RCV003050303 RCV003045068 RCV000209898 RCV000209946 RCV002790033 RCV003128299 RCV003142452 RCV003152837 RCV000234961 RCV003228758 RCV001297263 RCV003322676 RCV003329104 RCV003338174 RCV001851831 RCV002513022 RCV000527590 RCV000810006 RCV001218692 RCV003494531 RCV003494558 RCV003783017 RCV003783047 RCV003780981 RCV003779399 RCV003780110 RCV003792853 RCV003790421 RCV003791983 RCV003792323 RCV003792498 RCV003808025 RCV003806118 RCV003808298 RCV003806346 RCV003806383 RCV003804440 RCV003803930 RCV003801532 RCV003804085 RCV003803403 RCV003802740 RCV003800265 RCV003808490 RCV003808519 RCV003809345 RCV003804874 RCV003801819 RCV003804607 RCV003809663 RCV003807378 RCV003812471 RCV003812587 RCV003812645 RCV003802567 RCV003883285 RCV003991125 RCV003992031 RCV004555825 RCV004556913 RCV004566558 RCV004586517 RCV004595083 RCV001329203 RCV000578327 RCV002521495 RCV003233637 RCV001252614 RCV002524873 RCV001042388 RCV000022766 RCV000022767 RCV000022768 RCV001035869 RCV000461521 RCV000472920 RCV000469153 RCV000470319 RCV000463674 RCV005417358 RCV001047572 RCV000585884 RCV002272253 RCV002287413 RCV001851317 RCV001283762 RCV001233360 RCV000504449 RCV000502637 RCV000515736 RCV000688798 RCV001061927 RCV002470897 RCV000548002 RCV000528314 RCV000545214 RCV000533201 RCV000525471 RCV000578189 RCV001055515 RCV000590877 RCV000624287 RCV005410910 RCV001214076 RCV001855337 RCV000640633 RCV000640613 RCV000640612 RCV000640627 RCV000662338 RCV000677679 RCV000698145 RCV000703010 RCV000688129 RCV004577949 RCV000760244 RCV000760254 RCV000760249 RCV000760186 RCV002533837 RCV002298758 RCV000797231 RCV000819241 RCV000798043 RCV000818571 RCV000796023 RCV000805576 RCV000824384 RCV000805248 RCV000818268 RCV000823778 RCV000850596 RCV003769295 RCV000995861 RCV001004667 RCV001004704 RCV001007936 RCV001028090 RCV001055740 RCV001052113 RCV001052107 RCV001038077 RCV001041043 RCV001065834 RCV001041027 RCV001063444 RCV001044878 RCV001055304 RCV001039435 RCV001042651 RCV001036227 RCV001057871 RCV001060034 RCV001089730 RCV001089735 RCV001089734 RCV001089728 RCV001089733 RCV001260973 RCV001788422 RCV001200932 RCV001217698 RCV001220259 RCV001202780 RCV001206617 RCV001207665 RCV001210090 RCV001236295 RCV001228465 RCV001239407 RCV001229320 RCV001250743 RCV001252974 RCV001253341 RCV001257450 RCV001257449 RCV004596433 RCV001258349 RCV001261517 RCV001261989 RCV001262236 RCV001263018 RCV003387531 RCV003313202 RCV003770378 RCV006449386 RCV001390103 RCV003770380 RCV001296431 RCV005232225 RCV001381016 RCV003128381 RCV003770387 RCV001270373 RCV001270369 RCV001296127
Developmental and epileptic encephalopathy, 30	Likely pathogenic; Pathogenic	rs796053126	RCV003155928
Developmental disorder	Pathogenic; Likely pathogenic	rs181327458, rs1057520844	RCV003126573 RCV003126721
Dystonia 12	Likely pathogenic	rs1057518117	RCV001838624
Epilepsy	Likely pathogenic; Pathogenic	rs1553567864	RCV004017661
Epilepsy of infancy with migrating focal seizures	Pathogenic; Likely pathogenic	rs2105373034, rs2468008587, rs796053126, rs796053157, rs1553463427	RCV001731220 RCV003155983 RCV001847840 RCV003155929 RCV001847232
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs794727444, rs796053130, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs387906686, rs1574525321	RCV000417008 RCV000416964 RCV000416970 RCV000417026 RCV000417028 RCV000417035 RCV000416960 RCV001027536
Epileptic encephalopathy, infantile or early childhood	Pathogenic	rs2467902376	RCV003226148
Episodic ataxia, type 9	Likely pathogenic; Pathogenic	rs2467890325, rs2468150164, rs1553463427, rs796053166, rs1415376277, rs121917751, rs2468126249, rs2468157758, rs1432208282, rs121917753, rs1057520413, rs387906683, rs387906684, rs387906686, rs190111194 View all (10 more)	RCV002281615 RCV002281616 RCV001200928 RCV001200926 RCV003314426 RCV003224096 RCV003883285 RCV003990490 RCV005409973 RCV003989530 RCV002281573 RCV003987329 RCV004795937 RCV000022769 RCV001270400 RCV004783795 RCV004783819 RCV002468609 RCV001200929 RCV001270381 RCV003989658 RCV003313202 RCV002499455 RCV001270373 RCV001270369
Focal epilepsy	Likely pathogenic	rs1057519525	RCV000416990
Generalized epilepsy with febrile seizures plus	Pathogenic	rs2105259847	RCV001847374
Genetic developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs796053157	RCV005625409
Global developmental delay	Likely pathogenic	rs1574567728	RCV001003953
Hereditary episodic ataxia	Likely pathogenic; Pathogenic	rs796053124	RCV000417104
History of neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1553567409	RCV000720902
Infantile spasms	Likely pathogenic; Pathogenic	rs2468008251, rs2468096296, rs387906686, rs1553579488, rs1553567561	RCV003155982 RCV003155986 RCV003155911 RCV003155947 RCV001034608
intellectual deficiency	Likely pathogenic	rs1057519010	RCV000415077
Intellectual disability	Likely pathogenic; Pathogenic	rs1057524573, rs796053138, rs1553567864, rs1697224468, rs1698166561, rs1700956378, rs1701224556, rs1702008760, rs1702012175, rs1698674881	RCV003233637 RCV001257715 RCV001257708 RCV001255323 RCV001257732 RCV001257713 RCV001257714 RCV001257710 RCV001257712 RCV005626378
Intellectual disability, autosomal dominant	Pathogenic	rs1057519617	RCV000418127
Malignant migrating partial seizures of infancy	Pathogenic; Likely pathogenic	rs1057519523, rs1574556643	RCV000416998 RCV002283516
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1553463775	RCV000850476
Movement disorder	Likely pathogenic	rs1574567728	RCV001003953
Neurodevelopmental delay	Likely pathogenic	rs2105259560, rs2468081746	RCV002274408 RCV002466355
Neurodevelopmental disorder	Likely pathogenic	rs387906683	RCV001374900
Non-syndromic intellectual disability	Pathogenic	rs2467838766	RCV002466356
SCN2A-associated neurodevelopmental disorders	Pathogenic	rs1365774406	RCV005646783
SCN2A-related disorder	Likely pathogenic; Pathogenic	rs796053124, rs2105384764, rs1702006258, rs796053132, rs796053126, rs796053155, rs796053162, rs797045942, rs2467934415, rs2467886070, rs2467890286, rs2467887062, rs2467886849, rs2468008210, rs2467895421 View all (12 more)	RCV001825002 RCV003985515 RCV003985522 RCV004729112 RCV005250033 RCV004734835 RCV005868059 RCV005250034 RCV004554890 RCV003985582 RCV003985591 RCV003985604 RCV003985585 RCV003985614 RCV003985599 RCV003985601 RCV004736390 RCV003985644 RCV003985664 RCV003985327 RCV003985332 RCV003985263 RCV004735558 RCV001249406 RCV000844957 RCV003313203 RCV003985489
SCN2A-related generalized epilepsy with febrile seizures plus	Pathogenic; Likely pathogenic	rs796053137, rs796053157, rs1064794005, rs1702008866	RCV003325951 RCV005401370 RCV003313080 RCV001270747
See cases	Pathogenic; Likely pathogenic	rs2105277203, rs2105365149, rs2105251438, rs1701579057, rs149024364, rs1553578503	RCV001420200 RCV001420338 RCV001568397 RCV004797956 RCV002253055 RCV002252172
Seizure	Likely pathogenic; Pathogenic	rs1702006258, rs794727444, rs796053124, rs797045942, rs121917752, rs1060503101, rs796053138, rs1574567728, rs1057520413	RCV001849841 RCV001849328 RCV000417104 RCV000193985 RCV002274897 RCV001003339 RCV005624403 RCV001003953 RCV001526607
Seizures, benign familial infantile, 3	Likely pathogenic; Pathogenic	rs1698670041, rs1702008208, rs1553593578, rs2105243497, rs2105385817, rs527688117, rs2105247156, rs1697364931, rs796053180, rs2105259788, rs1553591818, rs2105385903, rs1365774406, rs2105398613, rs2105251438 View all (241 more)	RCV001313471 RCV001329201 RCV001350212 RCV001378217 RCV001379759 RCV001377133 RCV001384183 RCV001382401 RCV001384844 RCV001384198 RCV001387379 RCV001386186 RCV001387540 RCV001387541 RCV002568929 RCV005213550 RCV002544193 RCV001885387 RCV002545228 RCV002246550 RCV001940221 RCV001989583 RCV002038966 RCV001974057 RCV002048109 RCV001984340 RCV000118256 RCV001955692 RCV001966873 RCV001999343 RCV001942827 RCV001943689 RCV002020066 RCV002001745 RCV002035405 RCV002011756 RCV002013811 RCV001941848 RCV002031128 RCV002016420 RCV001970192 RCV001898888 RCV001996076 RCV001996092 RCV001953610 RCV002029438 RCV001952064 RCV001962461 RCV001895216 RCV001983068 RCV002250327 RCV002250328 RCV002250329 RCV002250330 RCV002250331 RCV002250332 RCV002250333 RCV002250336 RCV003099166 RCV003098511 RCV002573599 RCV003093181 RCV000515237 RCV002651525 RCV002516714 RCV002635271 RCV001390241 RCV000640632 RCV002651523 RCV000549343 RCV003765203 RCV001214974 RCV001379442 RCV001852502 RCV003772259 RCV003786904 RCV000640628 RCV005222816 RCV000763455 RCV000814425 RCV002514054 RCV001379123 RCV003325951 RCV001214971 RCV002517894 RCV001054289 RCV000640616 RCV000536734 RCV001852500 RCV000524506 RCV001387542 RCV002690111 RCV002761477 RCV002776069 RCV002823839 RCV002806613 RCV002838862 RCV001390104 RCV002842714 RCV002851649 RCV002876010 RCV002866679 RCV002852416 RCV002863530 RCV002866294 RCV002898859 RCV002881900 RCV002903198 RCV002867582 RCV002867559 RCV002899420 RCV002937359 RCV002948084 RCV003030811 RCV003016119 RCV002996798 RCV003042997 RCV003042677 RCV003057830 RCV003057968 RCV003035363 RCV003050303 RCV003045068 RCV000640635 RCV003778651 RCV001297263 RCV000013736 RCV000013737 RCV000013738 RCV000013739 RCV000013740 RCV003783017 RCV003783047 RCV003780981 RCV003779399 RCV003780110 RCV003792853 RCV003790421 RCV003791983 RCV003792323 RCV003792498 RCV003808025 RCV003806118 RCV003808298 RCV003806346 RCV003806383 RCV003804440 RCV003803930 RCV003801532 RCV003804085 RCV003803403 RCV003802740 RCV003800265 RCV003808490 RCV003808519 RCV003809345 RCV003804874 RCV003801819 RCV003804607 RCV003809663 RCV003807378 RCV003812471 RCV003812587 RCV003812645 RCV003802567 RCV003883285 RCV005409973 RCV002521495 RCV002524873 RCV001042388 RCV003764629 RCV000118248 RCV000118251 RCV000022770 RCV000461521 RCV000472920 RCV000469153 RCV000470319 RCV000463674 RCV001047572 RCV000640630 RCV005213295 RCV003313080 RCV001851317 RCV003766794 RCV001233360 RCV000986853 RCV000688798 RCV001061927 RCV000548002 RCV000528314 RCV000545214 RCV000533201 RCV000525471 RCV001055515 RCV001214076 RCV001855337 RCV000640633 RCV000640613 RCV000640612 RCV000640627 RCV000662338 RCV000698145 RCV000703010 RCV000688129 RCV000760244 RCV000760254 RCV000760249 RCV001389471 RCV002533837 RCV000797231 RCV000819241 RCV000798043 RCV000818571 RCV000796023 RCV000805576 RCV000824384 RCV000805248 RCV000818268 RCV000823778 RCV000850596 RCV000986849 RCV000986850 RCV000986852 RCV000986854 RCV000986857 RCV000986858 RCV000986859 RCV000986860 RCV000986861 RCV000986863 RCV000986864 RCV001004735 RCV001055740 RCV001052113 RCV001052107 RCV001038077 RCV001041043 RCV001065834 RCV001041027 RCV001063444 RCV001044878 RCV001055304 RCV001039435 RCV001042651 RCV001036227 RCV001057871 RCV001060034 RCV003770233 RCV001217698 RCV001220259 RCV001202780 RCV001206617 RCV001207665 RCV001210090 RCV001236295 RCV001228465 RCV001239407 RCV001229320 RCV001253523 RCV001253628 RCV001257450 RCV001257449 RCV001879979 RCV003313202 RCV003770378 RCV001390103 RCV003770380 RCV001296431 RCV001381016 RCV003770387 RCV001270373 RCV001270369 RCV001296127
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1553574522	RCV000655980
unclassified developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2468157815, rs1553568833, rs1057520413, rs1553462227	RCV003155985 RCV003155987 RCV003155938 RCV003155954
Vertigo	Likely pathogenic; Pathogenic	rs796053124	RCV000417104
West syndrome	Pathogenic; Likely pathogenic	rs2105255913, rs2105384629, rs1702015681, rs2105385811, rs2105402711, rs2105373027, rs2105403389, rs2105398463, rs2105385886, rs2105247416, rs1702008323, rs2105403544, rs1553568990, rs2105247122, rs794727152 View all (7 more)	RCV001847342 RCV001847343 RCV001847345 RCV001847346 RCV001847348 RCV001847352 RCV001847354 RCV001847356 RCV001847357 RCV001847358 RCV001847359 RCV001847363 RCV001847368 RCV001847369 RCV001847809 RCV001847815 RCV001847839 RCV001847841 RCV001847842 RCV001847844 RCV001848732 RCV001847619

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs17183814	RCV005889287
Cholangiocarcinoma	Benign	rs17183814	RCV005889288
Clear cell carcinoma of kidney	Benign; Likely benign	rs114315466	RCV005889284
Developmental and epileptic encephalopathy, 76	Uncertain significance	rs367833365	RCV003458640
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs67417831, rs780674346, rs527970192, rs1553563943, rs1553563951, rs886055006, rs886055007, rs886054992, rs886054994, rs886054996, rs1553563950, rs189308010	RCV000296146 RCV000259692 RCV000334084 RCV000289640 RCV000385199 RCV000300070 RCV000332510 RCV000331282 RCV000404399 RCV000276587 RCV000357389 RCV000373280 RCV000278750 RCV000347470 RCV000360029 RCV000261718 RCV000312231 RCV000319597 RCV000341224 RCV000335331 RCV000276897 RCV000348587
Febrile seizure (within the age range of 3 months to 6 years)	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs184769423, rs2105385658, rs747451714	RCV003155918 RCV002221972 RCV001848674
Gastric cancer	Benign	rs6724440	RCV005923089
Hemiplegia/hemiparesis	Conflicting classifications of pathogenicity	rs2105255410	RCV001526538
Lennox-Gastaut syndrome	Uncertain significance	rs1696547646	RCV003155981
Lung cancer	Benign; Likely benign	rs114315466	RCV005889285
Myoclonus	Likely benign	rs1212575241	RCV002266551
Nonpapillary renal cell carcinoma	Benign	rs17183814	RCV005889286
Ovarian serous cystadenocarcinoma	Benign	rs6724440	RCV005923090
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	Conflicting classifications of pathogenicity	rs764647930	RCV005863398
Pyridoxine-dependent epilepsy	Conflicting classifications of pathogenicity	rs184769423	RCV000678841
SCN2A-mediated disorder	Conflicting classifications of pathogenicity	rs1057518048	RCV002509379
Severe myoclonic epilepsy in infancy	Uncertain significance	rs2105402379	RCV001847340
Spastic ataxia	Conflicting classifications of pathogenicity	rs2105402552	RCV001647222
Uterine carcinosarcoma	Benign	rs1965757	RCV005906890
Uterine corpus endometrial carcinoma	Uncertain significance	rs773024189	RCV005892199

Show/Hide Text Mining Associations (96)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	29448117
alpha Thalassemia	Associate	3676514
Alternating hemiplegia of childhood	Associate	38097767
Anemia Sickle Cell	Associate	941904
Arrhythmias Cardiac	Associate	28087622
Attention Deficit Disorder with Hyperactivity	Associate	37597357
Autism Spectrum Disorder	Associate	23849776, 24650168, 26637798, 27824329, 27956748, 28256214, 28714951, 29929112, 30071822, 30392976, 30813884, 31272037, 32918531, 33460646, 34894057 View all (6 more)
Autism Spectrum Disorder	Stimulate	32193494
Autistic Disorder	Associate	15316014, 26196440, 26555645, 26749308, 27824329, 29929112, 30698461, 31272037, 31437449, 32918531, 33731876, 35205412, 35637276, 35982159, 37010102, 38148154, 38564633, 39596607 View all (3 more)
beta Thalassemia	Associate	10861818, 19298727, 32172616, 6655669
Bipolar Disorder	Associate	35260864, 40562893
Brain Diseases	Associate	19786696, 23566103, 23758435, 24710820, 25818041, 26291284, 28518218, 28817111, 29186148, 29466837, 29844171, 29929112, 30813884, 31995133, 32400968 View all (5 more)
Brain Neoplasms	Associate	31320627
CHARGE Syndrome	Associate	23849776
Chorea	Associate	24710820
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	32400968
Colitis	Associate	25078150
Colorectal Neoplasms	Associate	25078150
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	29929112
Convulsions benign familial neonatal dominant form	Associate	20384724
Death	Associate	35715422, 38255008
Death Sudden	Associate	27574005
Delta Beta Thalassemia	Associate	11493481
Depressive Disorder Major	Associate	36698099
Developmental Disabilities	Associate	26993267, 28256214, 28714951, 28867142, 29929112, 31056551, 33460646, 33779092, 34287911, 35417276, 35803560, 37578743, 38148154
Diabetes Mellitus	Associate	19687586
Diabetes Mellitus Type 2	Associate	31127053
Disease	Associate	32845893, 33818783
Disorders of Excessive Somnolence	Associate	24710820
Drug Resistant Epilepsy	Associate	15028761, 19270815, 19694741, 19786696, 29448117, 30813219, 35136380, 40462216
Ear Diseases	Associate	38255008
Early Onset Glaucoma	Associate	38255008
Embryo Loss	Associate	32845893
Ependymoma	Associate	34474328
Epilepsies Myoclonic	Associate	15028761, 21204806, 29314583, 31439038
Epilepsies Partial	Associate	19786696, 24157691
Epilepsy	Associate	18242854, 19694741, 19786696, 21893419, 23550958, 23566103, 23849776, 24157691, 24220630, 24659627, 26291284, 26555645, 28087622, 28837158, 29056246 View all (28 more)
Epilepsy Absence	Associate	28518218
Epilepsy Benign Neonatal	Associate	14738422, 16417554, 17386050, 18479388, 20384724, 21204806, 21893419, 23360469, 23566103, 23758435, 24659627, 24710820, 25982755, 29215089, 29844171, 30813219, 30813884, 32750235 View all (3 more)
Epilepsy Benign Neonatal 3	Associate	16417554, 16822249
Epilepsy Generalized	Associate	15028761
Epilepsy Idiopathic Generalized	Associate	15028761, 20041941
Epilepsy Temporal Lobe	Associate	24220630
Epileptic Encephalopathy Early Infantile 3	Associate	29844171, 30813884, 31995133, 32400968, 33779092, 34287911, 35803560, 35886038, 36029553, 36361691, 36571524, 37597357, 38148154, 38479087, 39285222
Epileptic Syndromes	Associate	19129176, 23550958
Episodic Ataxia	Associate	30314295, 34894057
Episodic Ataxia Type 2	Associate	30314295
Fetal Diseases	Associate	38255008
Fetal Growth Retardation	Associate	38255008
Fever	Associate	35022648
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	10486327, 24659627, 35886038
Genetic Diseases Inborn	Associate	22581936
Glucose Intolerance	Associate	23827426
Hemianopsia	Associate	23827426
Hippocampal Sclerosis	Associate	23827426
Hydrocephalus	Associate	38255008
Hypersensitivity Delayed	Associate	35417276
Hypotension	Associate	35260864
Infant Newborn Diseases	Associate	28817111
Infantile Epileptic Dyskinetic Encephalopathy	Associate	23550958, 30185235, 30813219, 31204721, 40462216
Intellectual Disability	Associate	20384724, 23566103, 26196440, 30813884, 31437449, 32400968, 33176815, 33278787, 34247411, 34894057, 35637276, 37010102, 37578743
Kidney Neoplasms	Associate	27802793
Leukodystrophy Metachromatic	Associate	35803560
Lung Diseases	Associate	38255008
Malformations of Cortical Development	Associate	24220630
Malformations of Cortical Development Group II	Associate	31204721
Mental Disorders	Associate	15028761, 24650168, 25849321, 26555645, 33731876
Metabolic Syndrome	Associate	39285222
Microphthalmia Syndromic 10	Associate	24710820
Migraine Familial Basilar	Associate	33460646
Movement Disorders	Associate	24710820
Multiple Sclerosis	Associate	15148385
Myoclonic Cerebellar Dyssynergia	Associate	23550958
Myoclonus	Associate	30813219
Neoplasms	Associate	27422711
Nerve Degeneration	Associate	23758435, 24157691
Neurodegenerative Diseases	Associate	28837158
Ovarian Neoplasms	Associate	15771624
Overweight	Associate	30896644
Pathological Conditions Anatomical	Associate	33818783
Peripheral Nervous System Diseases	Associate	31127053
Polyhydramnios	Associate	38255008
Polymicrogyria	Associate	29466837, 37486637
Progressive hearing loss stapes fixation	Associate	33176815
Q Fever	Associate	14693843
Sanderson Fraser syndrome	Associate	38255008
Schizophrenia	Associate	24718902, 26555645, 34894057
Seizures	Associate	16822249, 17386050, 23550958, 23566103, 23758435, 25982755, 26291284, 28256214, 29314583, 29844171, 30071822, 30314295, 30813219, 30813884, 31618474 View all (10 more)
Seizures Febrile	Associate	12086636, 15028761, 20041941, 35022648, 39596607
Signs and Symptoms Digestive	Associate	26291284
Spasm	Associate	33731876, 37583270
Spasms Infantile	Associate	19786696, 23827426, 29844171, 29929112, 30813219, 36279597, 37583270, 38148154
Status Epilepticus	Associate	33278787
Syndrome	Associate	35803560
Talipes	Associate	38255008
Tourette Syndrome	Associate	30071822

SCN2A (sodium voltage-gated channel alpha subunit 2)