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	6323
Gene name	Sodium voltage-gated channel alpha subunit 1
Gene symbol	SCN1A
Synonyms (NCBI Gene)	DEE6DEE6ADEE6BDRVTEIEE6FEB3FEB3AFHM3GEFSP2HBSCINAC1Nav1.1SCN1SMEI
Chromosome	2
Chromosome location	2q24.3
Summary	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium cha

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3812718	C>T	Drug-response, risk-factor	Intron variant
rs35595680	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs114137271	T>C,G	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs116478064	G>A	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs121917918	C>A,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917923	G>A,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917927	C>G,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917928	C>A	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917929	G>A,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917935	C>A,T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917937	A>C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917938	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917953	T>A	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917957	C>T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917959	C>A,G,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs121917964	T>C	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917965	G>A	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917969	A>G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917971	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917972	C>T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121917982	C>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917983	G>A,C	Likely-pathogenic, not-provided, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917984	G>A,C	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917985	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917989	A>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121917990	T>A,C	Not-provided, uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918623	G>A,T	Likely-pathogenic, not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918624	G>A	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs121918631	A>G,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918733	A>G	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918734	A>G	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918735	G>A,T	Likely-benign, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs121918736	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918737	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918745	G>A	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918753	C>G,T	Likely-pathogenic, not-provided	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918754	C>A,T	Not-provided, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121918768	C>A	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918770	C>A,T	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918773	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918774	C>G,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918775	G>A,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918781	A>G	Not-provided, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918784	G>A	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918785	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918788	G>A	Not-provided, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918795	G>C,T	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918817	C>T	Uncertain-significance, benign, not-provided, likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs141950573	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs145035963	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs145662732	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs146515561	G>A,C,T	Pathogenic	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs148442069	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs200034964	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs200176684	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs201985242	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs373417440	T>C	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs397514459	G>A,C,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs398123579	C>G	Pathogenic	Splice acceptor variant
rs398123580	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs398123584	T>A,C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs398123585	G>A,T	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs398123588	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123600	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs544692790	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs549232924	A>-,AA,AAA	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727504140	T>C	Pathogenic	Splice acceptor variant
rs727504142	C>G	Pathogenic, uncertain-significance	Intron variant
rs727504143	T>A,G	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs745664511	A>G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs748267258	A>G,T	Likely-pathogenic	Synonymous variant, missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs750209664	C>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs751533302	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs752918105	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs754032480	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs758871507	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs759923734	G>C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs760361423	C>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs762038032	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs763400390	C>A,T	Pathogenic	Splice acceptor variant
rs764444350	T>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs767045134	T>A,C	Pathogenic, uncertain-significance	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs773407463	A>C,G	Pathogenic	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs773695263	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs775214722	A>G,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs779184118	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs781507889	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs781746113	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786200989	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs786205214	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726695	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726697	G>A,T	Pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs794726704	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726708	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726711	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726712	A>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs794726713	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726714	AC>-	Pathogenic	Splice donor variant
rs794726715	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs794726716	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726717	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726718	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726719	C>G,T	Pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs794726721	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs794726724	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726725	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726732	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726736	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs794726738	CG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726742	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726743	C>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726747	T>A,G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726749	C>A,T	Pathogenic	Splice donor variant
rs794726750	->GGTC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726751	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726753	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726755	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726761	A>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs794726762	C>G,T	Pathogenic	Intron variant
rs794726764	G>C	Pathogenic	Splice acceptor variant
rs794726765	C>A,T	Pathogenic	Splice donor variant
rs794726766	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726767	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726768	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726771	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726772	C>A	Pathogenic	Splice donor variant
rs794726773	T>C	Pathogenic	Intron variant
rs794726775	T>A	Pathogenic	Intron variant
rs794726776	GC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726777	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726778	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726782	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726786	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726787	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726788	CCATTATAAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726790	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726792	CCAACTGAAGGTATCAAAGC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726793	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726794	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726795	A>T	Pathogenic	Intron variant
rs794726796	TTCC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726797	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726798	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726799	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726803	T>C	Pathogenic	Splice donor variant
rs794726805	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726806	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726807	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726808	TACAGTCCCA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794726810	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726811	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726812	->TATAC	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs794726815	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs794726818	GT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726820	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726823	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726824	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs794726826	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726827	C>A,G,T	Pathogenic	Splice donor variant
rs794726828	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726829	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726831	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726833	T>G	Pathogenic	Intron variant
rs794726834	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs794726837	A>C	Pathogenic	Intron variant
rs794726838	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, missense variant
rs794726840	C>G	Pathogenic	Splice donor variant
rs794726842	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726843	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726844	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726846	->CA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794726847	T>A,G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs794726848	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794726849	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs794727786	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796052953	C>T	Pathogenic	Splice acceptor variant
rs796052957	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052959	C>T	Pathogenic	Splice acceptor variant
rs796052960	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052961	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052962	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052963	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052964	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052965	C>T	Likely-pathogenic	Intron variant
rs796052969	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052971	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052972	C>A,G,T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs796052973	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052974	A>C,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796052976	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs796052977	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs796052981	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052982	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052983	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052984	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796052985	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs796052986	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs796052988	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796053016	G>A,C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs796053047	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053050	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053051	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053052	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053053	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053054	->A	Pathogenic, uncertain-significance	Splice donor variant
rs796053055	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053056	->CTACT	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs796053057	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053058	CTTTC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053059	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053060	->TCGC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053062	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053064	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053065	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs796053066	->TAA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant
rs796053075	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053076	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs796053089	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053090	C>A,G	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs796053091	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053092	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053093	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053094	A>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053095	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs796053105	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs796053106	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs797044981	GCCAAGACG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs797044985	A>C	Pathogenic	Splice donor variant
rs797045941	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs863225030	C>A,T	Pathogenic	Splice donor variant
rs863225031	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs863225038	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs878854262	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886039430	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886039456	G>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886039464	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886041292	C>G,T	Pathogenic	Splice donor variant, 5 prime UTR variant
rs886041442	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041501	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041604	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041644	CG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041716	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041733	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041926	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041937	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886041939	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041961	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs886041969	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041980	C>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs886042004	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042528	C>T	Likely-pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs886043534	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, non coding transcript variant
rs886043864	C>G	Pathogenic	Splice donor variant
rs970867558	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517849	C>A	Pathogenic	Splice donor variant
rs1057517862	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1057517959	C>A,T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1057518094	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057518110	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs1057518112	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs1057518129	C>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057518243	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057518325	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519529	C>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519530	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519531	T>C	Pathogenic	Splice acceptor variant
rs1057520486	C>T	Pathogenic	Intron variant
rs1057521080	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057523858	A>T	Likely-pathogenic, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1057524737	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1057524752	T>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1060502185	G>C,T	Likely-pathogenic	Intron variant
rs1060502187	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064793315	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064793341	->AC	Pathogenic	Splice donor variant
rs1064793678	GTTCTCAATGCCGA>TGTG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064793803	->A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064794147	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794252	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794503	->AGGGGAAAATACA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794508	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064794634	C>G	Likely-pathogenic	Intron variant
rs1064794913	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064795078	->AAATG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064795227	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064795620	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064795735	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1064795736	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796087	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1064796213	->CA	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064796384	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1064796824	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1064797019	T>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064797266	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1085307520	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1085307892	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691465	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691545	A>G	Pathogenic	Splice donor variant
rs1266877537	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1553541066	AGTAAGGCACATGG>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553541473	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553542199	->GATA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553543215	AA>-	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553544470	CTAT>-	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553544559	A>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553544579	AATCCACAG>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553544821	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553545522	TGATG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553545567	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553545660	TTCTT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553545742	ACTTA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546668	T>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553546763	C>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553546789	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546836	C>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553546981	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553547380	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553547448	A>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553548063	C>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553548096	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553548194	AAT>-	Pathogenic, likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553549471	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1553549483	GTCA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553549660	G>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549717	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553549834	A>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549845	A>T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549902	A>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553549997	GGCCT>TTGTGG	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553550552	C>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553550618	T>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553550625	GACGT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551304	CTTACGCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGA>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1553551314	GCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTATATATTCCTGTGAAGGTGTAT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553551385	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551425	->A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553551493	A>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553552270	TCTACATTCTTTGTCCAATCAGGAGGGTTACTCATTGTCATAAACACACAGTTTGTCAAAATAGTGCACATAATTAGCATGCTGAATAAT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553552319	->C	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553552390	A>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553553462	G>C	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553553485	G>C	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs1553553614	G>C	Likely-pathogenic	Intron variant
rs1553560676	CTCACT>GGCA	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1553560677	C>G	Likely-pathogenic	Splice donor variant
rs1553560740	->ATC	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe insertion
rs1553560760	AGGTTCTTTCCA>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, inframe deletion
rs1553560831	T>-,TT	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553561016	C>T	Pathogenic	5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant
rs1553561023	A>G	Pathogenic, likely-pathogenic	5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant
rs1559199628	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559200672	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559200901	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559210063	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559216338	->TC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559217391	->G	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559220874	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559221910	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1559225495	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1559238432	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1559245847	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1559249734	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1574182550	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1574183148	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1574192005	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574192998	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1574201555	A>G	Likely-pathogenic	Splice donor variant, 5 prime UTR variant
rs1574201591	TTCCTACTGTAAGCACATT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574208760	GCTA>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574209023	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1574214734	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1574216450	GTCTCTCTCCGTG>ACCTGAGTGCACAAACAAGGAATC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574217232	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574223964	->T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574224274	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574225593	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574240716	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574263047	C>T	Likely-pathogenic	Splice donor variant
rs1574263819	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574264920	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574265144	->TTGCC	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574265485	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574266816	C>-	Pathogenic	Splice acceptor variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1574271602	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574271644	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574271827	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574272192	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574281711	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1574282312	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574290850	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1574291210	T>G	Likely-pathogenic	Intron variant
rs1574302195	AAGATGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1574312497	C>T	Likely-pathogenic	Intron variant
rs1574370981	CACT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, splice donor variant
rs1574371141	TCTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, 5 prime UTR variant
rs1574371902	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant

163

Show/Hide all (163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038738	hsa-miR-93-3p	CLASH	23622248
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT575479	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT575479	hsa-miR-4783-5p	HITS-CLIP	27418678
MIRT575476	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575476	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575477	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575477	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575478	hsa-miR-933	HITS-CLIP	27418678
MIRT575478	hsa-miR-933	HITS-CLIP	27418678
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT627648	hsa-miR-548u	HITS-CLIP	23824327
MIRT627647	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT613603	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT613601	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT613602	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT613600	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT613599	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT613598	hsa-miR-4744	HITS-CLIP	23824327
MIRT613597	hsa-miR-4509	HITS-CLIP	23824327
MIRT613596	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT613595	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT613594	hsa-miR-4263	HITS-CLIP	23824327
MIRT613593	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT1329734	hsa-miR-369-3p	CLIP-seq
MIRT1329735	hsa-miR-374a	CLIP-seq
MIRT1329736	hsa-miR-374b	CLIP-seq
MIRT1329737	hsa-miR-3180-5p	CLIP-seq
MIRT1329738	hsa-miR-338-3p	CLIP-seq
MIRT1329739	hsa-miR-4530	CLIP-seq
MIRT1329740	hsa-miR-106a	CLIP-seq
MIRT1329741	hsa-miR-106b	CLIP-seq
MIRT1329742	hsa-miR-1286	CLIP-seq
MIRT1329743	hsa-miR-17	CLIP-seq
MIRT1329744	hsa-miR-20a	CLIP-seq
MIRT1329745	hsa-miR-20b	CLIP-seq
MIRT1329746	hsa-miR-3148	CLIP-seq
MIRT1329747	hsa-miR-4722-5p	CLIP-seq
MIRT1329748	hsa-miR-519a	CLIP-seq
MIRT1329749	hsa-miR-519b-3p	CLIP-seq
MIRT1329750	hsa-miR-519c-3p	CLIP-seq
MIRT1329751	hsa-miR-519d	CLIP-seq
MIRT1329752	hsa-miR-520g	CLIP-seq
MIRT1329753	hsa-miR-520h	CLIP-seq
MIRT1329754	hsa-miR-93	CLIP-seq
MIRT2097750	hsa-miR-1179	CLIP-seq
MIRT1329737	hsa-miR-3180-5p	CLIP-seq
MIRT1329738	hsa-miR-338-3p	CLIP-seq
MIRT1329739	hsa-miR-4530	CLIP-seq
MIRT2322028	hsa-miR-132	CLIP-seq
MIRT2322029	hsa-miR-212	CLIP-seq
MIRT2322030	hsa-miR-3120-3p	CLIP-seq
MIRT2322031	hsa-miR-3192	CLIP-seq
MIRT2322032	hsa-miR-3689a-3p	CLIP-seq
MIRT2322033	hsa-miR-3689c	CLIP-seq
MIRT2322034	hsa-miR-3941	CLIP-seq
MIRT2322035	hsa-miR-4519	CLIP-seq
MIRT2322036	hsa-miR-466	CLIP-seq
MIRT2322037	hsa-miR-4672	CLIP-seq
MIRT2322038	hsa-miR-4728-5p	CLIP-seq
MIRT2322039	hsa-miR-4797-5p	CLIP-seq
MIRT2322040	hsa-miR-548ac	CLIP-seq
MIRT2322041	hsa-miR-548ae	CLIP-seq
MIRT2322042	hsa-miR-548aj	CLIP-seq
MIRT2322043	hsa-miR-548am	CLIP-seq
MIRT2322044	hsa-miR-548d-3p	CLIP-seq
MIRT2322045	hsa-miR-548x	CLIP-seq
MIRT2322046	hsa-miR-548z	CLIP-seq
MIRT2322047	hsa-miR-599	CLIP-seq
MIRT2097750	hsa-miR-1179	CLIP-seq
MIRT2394085	hsa-miR-409-3p	CLIP-seq
MIRT2394086	hsa-miR-4781-3p	CLIP-seq

Show/Hide all (53)

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:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	14672992
GO:0005248	Function	Voltage-gated sodium channel activity	ISS
GO:0005248	Function	Voltage-gated sodium channel activity	NAS	10742094
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA	14672992
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	10742094
GO:0007628	Process	Adult walking behavior	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030424	Component	Axon	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034706	Component	Sodium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	IEA
GO:0050966	Process	Detection of mechanical stimulus involved in sensory perception of pain	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	27207958
GO:0086010	Process	Membrane depolarization during action potential	IEA
GO:0086010	Process	Membrane depolarization during action potential	IMP	14672992
GO:0086010	Process	Membrane depolarization during action potential	ISS
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	22150645
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	22150645
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	22150645

MIM	HGNC	e!Ensembl
182389	10585	ENSG00000144285

P35498

Protein name

Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

Protein function

Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

7DTD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	127 → 434	Ion transport protein	Family
PF11933	Na_trans_cytopl	501 → 718	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	767 → 1002	Ion transport protein	Family
PF06512	Na_trans_assoc	1006 → 1213	Sodium ion transport-associated	Family
PF00520	Ion_trans	1217 → 1493	Ion transport protein	Family
PF00520	Ion_trans	1540 → 1797	Ion transport protein	Family

Sequence

MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKI
AIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCL
EDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNY
NGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNY
GYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLS
DSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEG
NRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFED
NESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVP
TSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASIL
TNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVL
NTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAII
VFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCM
EVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMH
KGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVN
GTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEE
SKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGR
GKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTT
TGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYA
AVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFM
TEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMV
ETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMF
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPD
CDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPL
SEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGD
RIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAV
IIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTA
ACPPSYDRVTKPIVEKHEQEGKDEKAKGK

Sequence length

2009

Interactions

View interactions

	KEGG		Reactome
	Dopaminergic synapse		Phase 0 - rapid depolarisation

5325

Show/Hide Causal Diseases (41)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Pathogenic; Likely pathogenic	rs794726827, rs121917994	RCV001003957 RCV001003955
Autosomal dominant epilepsy	Likely pathogenic; Pathogenic	rs2105862149, rs794726730, rs797045940, rs794726762, rs121918622, rs2468221702, rs1553520268, rs2468200195, rs751533302, rs1553546836, rs77216276, rs1559118914, rs121917993, rs121917935, rs1689682880, rs398123588 View all (1 more)	RCV002271866 RCV001824659 RCV001192960 RCV002469061 RCV001192959 RCV003479621 RCV003479944 RCV003988393 RCV003987560 RCV000590735 RCV000586829 RCV000780698 RCV002265592 RCV005406802 RCV001192961 RCV000781835
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs121918792, rs1689381070, rs1689707865, rs1553531134, rs1698198046, rs794726749, rs779184118, rs796053040, rs528239871, rs760906812, rs2105429381, rs2105432780, rs2105610047, rs794726725, rs746413385 View all (955 more)	RCV001325213 RCV001312722 RCV001327294 RCV001325214 RCV001323407 RCV003753174 RCV002546700 RCV001339386 RCV001342827 RCV001366596 RCV001366597 RCV001366069 RCV001374298 RCV001365856 RCV001365999 RCV001370765 RCV001366598 RCV005094502 RCV001385510 RCV001390716 RCV003753177 RCV001378012 RCV001377574 RCV001377447 RCV001379772 RCV001379444 RCV001378447 RCV001377575 RCV001377440 RCV001377289 RCV001378655 RCV001379666 RCV001377583 RCV001378135 RCV001377448 RCV001377649 RCV001377323 RCV001378497 RCV001377291 RCV001377989 RCV001389556 RCV001390463 RCV001384791 RCV001383127 RCV001385323 RCV001383077 RCV001387751 RCV001387752 RCV001388243 RCV001382665 RCV001381948 RCV001388663 RCV001386928 RCV001390322 RCV001390713 RCV001385511 RCV001385512 RCV001382294 RCV001385745 RCV001384660 RCV001381928 RCV001390891 RCV001387195 RCV001381437 RCV001386220 RCV001390494 RCV001387942 RCV001386225 RCV001384352 RCV001382869 RCV001390158 RCV001388908 RCV001381057 RCV001380290 RCV001386602 RCV001381061 RCV001390993 RCV001387438 RCV001386754 RCV001381107 RCV001389472 RCV001385055 RCV001384856 RCV001382620 RCV001386040 RCV001384530 RCV001387194 RCV001386732 RCV001381108 RCV001388711 RCV001388200 RCV001384181 RCV001380255 RCV001865907 RCV002568884 RCV002568220 RCV003588743 RCV003753181 RCV002539801 RCV005094910 RCV003588768 RCV002028671 RCV001977880 RCV002034121 RCV001943194 RCV002046328 RCV001923050 RCV001891817 RCV001963710 RCV001864245 RCV001904953 RCV001904183 RCV001999845 RCV001917732 RCV001939397 RCV001939399 RCV001941714 RCV001939457 RCV001878430 RCV001864760 RCV001933360 RCV001932225 RCV001938499 RCV001938542 RCV001996260 RCV001917437 RCV001950833 RCV001950835 RCV001950840 RCV001946710 RCV001950843 RCV001946717 RCV001950944 RCV001907467 RCV001992444 RCV001956011 RCV001987646 RCV001971003 RCV001971010 RCV001910963 RCV001958376 RCV001985320 RCV001985326 RCV001958438 RCV001958443 RCV002005275 RCV001902432 RCV001949274 RCV001972659 RCV001972685 RCV001953864 RCV002008496 RCV002008502 RCV002030379 RCV001891058 RCV001910777 RCV001951947 RCV002017469 RCV001884512 RCV001943697 RCV001947375 RCV001896567 RCV001996919 RCV001975135 RCV001958832 RCV001963044 RCV002023550 RCV002020101 RCV001903205 RCV001884894 RCV001927510 RCV002029015 RCV001903017 RCV002001292 RCV002001338 RCV002012226 RCV002008007 RCV002007285 RCV002035338 RCV002007300 RCV002007304 RCV002037895 RCV001994828 RCV001993189 RCV001999963 RCV001994692 RCV002037829 RCV002000125 RCV002000271 RCV001866639 RCV002018847 RCV001999575 RCV001870771 RCV001921586 RCV002007470 RCV002007618 RCV001933662 RCV001942164 RCV001942175 RCV001942242 RCV002002485 RCV001994882 RCV001953417 RCV001953484 RCV001949961 RCV001950985 RCV001951007 RCV001951147 RCV002043376 RCV001925698 RCV001950364 RCV002049198 RCV001970083 RCV001995946 RCV002043145 RCV001901322 RCV001956274 RCV001949456 RCV001949459 RCV001956282 RCV001956283 RCV002039575 RCV001952468 RCV001972705 RCV001956143 RCV001932946 RCV001886984 RCV001887016 RCV001906507 RCV001967263 RCV001947067 RCV002023097 RCV001963142 RCV001914798 RCV001966791 RCV001952852 RCV001979725 RCV002039735 RCV003588783 RCV003588784 RCV003753228 RCV003097722 RCV003097773 RCV005096073 RCV001040173 RCV002296061 RCV002302182 RCV001382716 RCV000805798 RCV005089849 RCV000692766 RCV000555321 RCV002516537 RCV000798624 RCV002515208 RCV001850418 RCV000804066 RCV002515211 RCV001382664 RCV001052311 RCV002516539 RCV002517630 RCV005089844 RCV002517631 RCV005089846 RCV003068985 RCV002515210 RCV001219498 RCV005089847 RCV000707470 RCV001385514 RCV001035456 RCV000808766 RCV005089845 RCV000636324 RCV001850419 RCV002515213 RCV001376917 RCV000457088 RCV002515209 RCV000530080 RCV000554065 RCV001850416 RCV001071061 RCV001344647 RCV002515212 RCV000534243 RCV000699982 RCV000544887 RCV001850420 RCV000636424 RCV001850421 RCV001850422 RCV001850417 RCV000529401 RCV003588585 RCV002516538 RCV003588584 RCV000551280 RCV001850423 RCV000824285 RCV000636365 RCV001212061 RCV003093763 RCV003074919 RCV003074920 RCV003084859 RCV003100634 RCV002651531 RCV002651534 RCV002651535 RCV002664262 RCV002651539 RCV002651540 RCV002651541 RCV002651542 RCV002651543 RCV002664263 RCV002651545 RCV002651546 RCV002651547 RCV002651548 RCV002664264 RCV002651549 RCV002664267 RCV002651553 RCV002664268 RCV002651554 RCV002651555 RCV002664269 RCV002651558 RCV002651559 RCV002651560 RCV001037904 RCV003112130 RCV003112131 RCV001227678 RCV002613186 RCV002594420 RCV002613187 RCV002604993 RCV002517890 RCV001387543 RCV001387544 RCV000697361 RCV001857650 RCV003753105 RCV005089951 RCV001244268 RCV002514048 RCV002517892 RCV001050764 RCV001852496 RCV002000214 RCV001898418 RCV002514045 RCV003753104 RCV001222481 RCV001385509 RCV000463766 RCV001852495 RCV005089954 RCV001317116 RCV003094038 RCV003753102 RCV003588596 RCV001320602 RCV002517891 RCV001857647 RCV003588593 RCV001857645 RCV003072775 RCV001857651 RCV002517009 RCV001056856 RCV000456491 RCV000804719 RCV001992751 RCV001055748 RCV001852498 RCV002701274 RCV002735242 RCV002741074 RCV002711858 RCV002805530 RCV005089966 RCV002801351 RCV002801394 RCV002796511 RCV002801118 RCV002820016 RCV002791113 RCV002819639 RCV002833103 RCV002796224 RCV002839049 RCV002828765 RCV002833817 RCV002850999 RCV002834935 RCV005089987 RCV002850931 RCV002851699 RCV002830218 RCV002870806 RCV002838235 RCV002829098 RCV002829311 RCV002843802 RCV002843828 RCV002863149 RCV002880770 RCV002867072 RCV002881428 RCV002881533 RCV002866124 RCV002857454 RCV002853303 RCV002853352 RCV002880645 RCV002858626 RCV002871539 RCV002876833 RCV002852067 RCV002852822 RCV002847818 RCV002880420 RCV002871481 RCV002889282 RCV002893865 RCV002894317 RCV002867490 RCV002877181 RCV002889741 RCV002894791 RCV002899123 RCV002912990 RCV002872506 RCV002885271 RCV002877478 RCV002917358 RCV002872309 RCV002877269 RCV002899491 RCV002903398 RCV002914463 RCV002922764 RCV002958537 RCV002942835 RCV002958012 RCV003002207 RCV002995980 RCV003588599 RCV001205577 RCV001242095 RCV000692637 RCV003588598 RCV002994068 RCV003007379 RCV002999806 RCV003014117 RCV003008398 RCV003016923 RCV003010182 RCV003021295 RCV003028459 RCV003002896 RCV003012209 RCV003025870 RCV003029681 RCV003029337 RCV003031895 RCV003038642 RCV003027214 RCV003038271 RCV003035269 RCV003054379 RCV003059340 RCV003055531 RCV003049494 RCV003039537 RCV003058046 RCV003041079 RCV003066335 RCV003059647 RCV003062062 RCV003588600 RCV000231750 RCV000228804 RCV005099278 RCV003588864 RCV005100950 RCV001382872 RCV003765583 RCV001318445 RCV001389473 RCV005090344 RCV003753267 RCV001040793 RCV000686817 RCV000636336 RCV001385324 RCV001037392 RCV000794577 RCV002513023 RCV001296128 RCV001857344 RCV003753295 RCV003589009 RCV003589559 RCV003589568 RCV003589725 RCV003589783 RCV003589602 RCV003589761 RCV003589815 RCV003589532 RCV003589533 RCV003589746 RCV003589799 RCV003588971 RCV003589986 RCV003589971 RCV003590623 RCV003590764 RCV003589838 RCV003589839 RCV003589889 RCV003589893 RCV003590716 RCV003590877 RCV003588247 RCV003588163 RCV003588276 RCV003588452 RCV003588453 RCV003588456 RCV003588457 RCV003588458 RCV003588459 RCV003588461 RCV003588462 RCV003588465 RCV003588467 RCV003588468 RCV003588469 RCV003588470 RCV003588471 RCV003588472 RCV003588473 RCV003588474 RCV003588475 RCV003589222 RCV003589285 RCV003589440 RCV003589442 RCV003590136 RCV003590238 RCV003589416 RCV003589417 RCV003590156 RCV003590212 RCV003590261 RCV003590027 RCV003590086 RCV003590996 RCV003591005 RCV003591086 RCV003590216 RCV003590338 RCV003590323 RCV003590322 RCV003590368 RCV003753352 RCV003753307 RCV003753358 RCV003753913 RCV003754186 RCV003754132 RCV003754169 RCV003754176 RCV003754210 RCV003754165 RCV003754065 RCV003754096 RCV003754319 RCV003754384 RCV003754413 RCV003754231 RCV003754236 RCV003754353 RCV003754410 RCV003754223 RCV003754305 RCV003754372 RCV003754369 RCV003754370 RCV003754436 RCV003754483 RCV003754525 RCV003754571 RCV003754481 RCV003754541 RCV003754473 RCV003754513 RCV003754535 RCV003754487 RCV003754558 RCV003754560 RCV003754638 RCV003754649 RCV003754783 RCV003754810 RCV003754632 RCV003754655 RCV003754687 RCV003754688 RCV003754682 RCV003754771 RCV003754832 RCV003752643 RCV003752671 RCV003752680 RCV003754839 RCV003752613 RCV003752615 RCV003752690 RCV003752698 RCV003752628 RCV003752658 RCV003752662 RCV003752602 RCV003752604 RCV003752917 RCV003752918 RCV003753669 RCV003753670 RCV003753707 RCV003753708 RCV003753709 RCV003753710 RCV003753711 RCV003753834 RCV003835535 RCV003843930 RCV003879151 RCV002523945 RCV000696398 RCV002523916 RCV005090671 RCV001861426 RCV005090667 RCV000692374 RCV003588626 RCV001861452 RCV002524682 RCV002521550 RCV001861507 RCV002522586 RCV002525370 RCV000636430 RCV000794021 RCV001379443 RCV000472521 RCV000472741 RCV000476602 RCV000468024 RCV000474675 RCV000467130 RCV000471658 RCV000460126 RCV000466170 RCV000466422 RCV000475845 RCV000461916 RCV001232515 RCV003753121 RCV002525772 RCV002525907 RCV001865474 RCV000636316 RCV005090944 RCV001851250 RCV001063362 RCV002526043 RCV002526025 RCV002527097 RCV002527098 RCV001865550 RCV001851360 RCV001037785 RCV001390613 RCV001851457 RCV000559503 RCV001036991 RCV005091201 RCV001361272 RCV000554528 RCV000550750 RCV000545428 RCV000539067 RCV000547651 RCV000550335 RCV000531433 RCV000541932 RCV000557695 RCV000530855 RCV000525130 RCV000549298 RCV000558740 RCV000530416 RCV000548719 RCV000536084 RCV000551996 RCV000538577 RCV000535322 RCV000527504 RCV000539521 RCV000550135 RCV000542771 RCV000524577 RCV000553399 RCV000557448 RCV000535776 RCV000536922 RCV003588648 RCV001387750 RCV001853962 RCV001223212 RCV003588650 RCV005091830 RCV000636304 RCV000636325 RCV000636437 RCV000636256 RCV000636345 RCV000636279 RCV000636380 RCV000636331 RCV000636398 RCV000636388 RCV000636269 RCV000636425 RCV000636288 RCV000636344 RCV000636401 RCV000636340 RCV000636370 RCV000636289 RCV000636390 RCV000636355 RCV000636421 RCV000636364 RCV000636358 RCV000636436 RCV000636320 RCV000636377 RCV000636371 RCV001868296 RCV000693631 RCV000692314 RCV000688127 RCV000690701 RCV000687317 RCV000702514 RCV000688318 RCV000695864 RCV000688616 RCV000705575 RCV000685692 RCV000686531 RCV000689931 RCV000693359 RCV000701720 RCV000700259 RCV000695436 RCV000706022 RCV000703998 RCV000686244 RCV000702114 RCV000704404 RCV000703313 RCV000688538 RCV000690595 RCV000692737 RCV000707710 RCV000687341 RCV000687680 RCV000696442 RCV000685309 RCV000699993 RCV000705801 RCV000706754 RCV000685119 RCV000699910 RCV000699236 RCV000700817 RCV000703775 RCV000706152 RCV000699313 RCV001862072 RCV001862025 RCV005092100 RCV001862014 RCV005092189 RCV000806046 RCV000806062 RCV000821412 RCV000822742 RCV000798796 RCV000815477 RCV000816783 RCV000810151 RCV000820559 RCV000806746 RCV000820266 RCV000797535 RCV000810423 RCV000814237 RCV000822869 RCV000821070 RCV000816654 RCV000816143 RCV000804796 RCV000798537 RCV000814810 RCV000796174 RCV000808946 RCV000819723 RCV000823725 RCV000806987 RCV000818091 RCV000806866 RCV000802708 RCV000814820 RCV000798725 RCV000814479 RCV000795934 RCV000816991 RCV000806659 RCV000803142 RCV000803742 RCV000803785 RCV000797563 RCV000801256 RCV000806441 RCV000794151 RCV000796600 RCV000810298 RCV000808951 RCV000815834 RCV000800334 RCV000808196 RCV001380827 RCV001206932 RCV003588704 RCV001070314 RCV001869341 RCV002549674 RCV001204733 RCV001382871 RCV005092969 RCV001338678 RCV001226020 RCV001036662 RCV000554304 RCV000636386 RCV002514305 RCV002513779 RCV000695650 RCV005089494 RCV000543457 RCV000541714 RCV000550639 RCV000818870 RCV001344646 RCV000636387 RCV000804975 RCV002513780 RCV001048734 RCV000812820 RCV003588568 RCV001069069 RCV000636318 RCV000794558 RCV000636349 RCV000463147 RCV001208285 RCV001229900 RCV005089495 RCV000693267 RCV001854242 RCV001240035 RCV001207693 RCV000636440 RCV002513781 RCV000558296 RCV000636408 RCV003588569 RCV003588570 RCV000808399 RCV001390614 RCV001854243 RCV002514307 RCV002549972 RCV000819332 RCV000636409 RCV000636356 RCV000636276 RCV001054726 RCV001387943 RCV001854244 RCV001385513 RCV001067468 RCV001854245 RCV003588571 RCV003588572 RCV003588573 RCV000529623 RCV001854246 RCV002514308 RCV001062878 RCV005089496 RCV001246264 RCV001854247 RCV001854248 RCV000705871 RCV001037788 RCV001068164 RCV001049730 RCV001060255 RCV001062675 RCV001056049 RCV001065394 RCV001037567 RCV001034995 RCV001052269 RCV001064422 RCV001057601 RCV001041715 RCV001062729 RCV001051932 RCV001050864 RCV001059739 RCV001040319 RCV001038397 RCV001039756 RCV001067689 RCV001067211 RCV001055731 RCV001068032 RCV001048203 RCV001071946 RCV001065621 RCV001066245 RCV001068081 RCV001039489 RCV001067778 RCV001043551 RCV001055991 RCV001039629 RCV001061500 RCV001037807 RCV001045298 RCV001049503 RCV001052661 RCV001056655 RCV001058447 RCV001037740 RCV001041679 RCV001043566 RCV001071457 RCV001054226 RCV001046061 RCV001035628 RCV001049341 RCV001049598 RCV001057675 RCV001056031 RCV001045336 RCV001065356 RCV001066562 RCV001052555 RCV001043257 RCV001054342 RCV001062966 RCV001060729 RCV001045388 RCV001042838 RCV001064399 RCV001054340 RCV001066067 RCV001051210 RCV001047984 RCV001045316 RCV001862667 RCV003588716 RCV005093461 RCV003588717 RCV001214741 RCV001242431 RCV003588722 RCV001227198 RCV001863098 RCV001385213 RCV001221045 RCV001220743 RCV001218933 RCV001220872 RCV001215953 RCV001215832 RCV001219623 RCV001222804 RCV001221444 RCV001219016 RCV001221323 RCV001220233 RCV001218504 RCV001218729 RCV001225066 RCV001225036 RCV001217095 RCV001224562 RCV001218209 RCV001224755 RCV001216515 RCV001208266 RCV001209180 RCV001212263 RCV001212529 RCV001205652 RCV001211935 RCV001206877 RCV001205194 RCV001201815 RCV001213249 RCV001210248 RCV001212430 RCV001210172 RCV001215571 RCV001237218 RCV001228636 RCV001229483 RCV001226832 RCV001229041 RCV001233481 RCV001228328 RCV001230259 RCV001229322 RCV001235451 RCV001233952 RCV001233783 RCV001229412 RCV001226636 RCV001229925 RCV001242378 RCV001241803 RCV001242091 RCV001247969 RCV001240244 RCV001245350 RCV001240448 RCV001235040 RCV001229030 RCV001230525 RCV001233124 RCV002508953 RCV001879864 RCV003588735 RCV001871712 RCV003753171 RCV001300911 RCV001300048 RCV001296131 RCV000557283 RCV000546041 RCV000636415
Developmental and epileptic encephalopathy 6B	Likely pathogenic; Pathogenic	rs746413385, rs886042528, rs1696624989, rs1553549667, rs2105486615, rs2105889878, rs2105901693, rs2105861548, rs2105433731, rs2105806338, rs1553520107, rs727504136, rs794726739, rs794726726, rs199727342 View all (43 more)	RCV004546642 RCV001420525 RCV005429056 RCV005023255 RCV004796692 RCV002479417 RCV005017082 RCV002243592 RCV006449284 RCV002291181 RCV002293381 RCV002492580 RCV002505227 RCV003237341 RCV003128152 RCV003224181 RCV003224195 RCV005252799 RCV005025307 RCV005252800 RCV005410891 RCV002500578 RCV003128166 RCV003128167 RCV003128168 RCV003128169 RCV003159277 RCV003224247 RCV003343737 RCV003234626 RCV003334469 RCV003340699 RCV003337922 RCV005243098 RCV003595856 RCV003883276 RCV003883365 RCV003988171 RCV001814163 RCV004760532 RCV002289748 RCV005645106 RCV006250122 RCV004798860 RCV002500983 RCV001420538 RCV002262611 RCV004595905 RCV004796001 RCV004796002 RCV005867846 RCV002468563 RCV005243110 RCV001420531 RCV005252729 RCV005253705 RCV002497799 RCV005909138
Developmental and epileptic encephalopathy, 1	Pathogenic	rs2105983330, rs794726730	RCV001527643 RCV001527645
Developmental and epileptic encephalopathy, 6A	Pathogenic	rs2468513095, rs121917923, rs796053004, rs2468233753, rs121917984	RCV002287596 RCV003326125 RCV002470805 RCV003326176 RCV002470755
Developmental and epileptic encephalopathy, 76	Pathogenic	rs794726827	RCV003338449
Early-infantile DEE	Likely pathogenic	rs2105860766	RCV005629671
Epilepsy	Likely pathogenic; Pathogenic	rs2468181816, rs1553549450, rs1559127505	RCV004696556 RCV004018398 RCV004692159
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs794726754, rs748267258, rs2468331313, rs2468532181, rs796053083, rs1057519529	RCV001003954 RCV003484993 RCV003485000 RCV003485001 RCV000416979 RCV000417000
Familial hemiplegic migraine	Pathogenic	rs2105890052, rs61741123	RCV001533164 RCV002508953
Febrile seizure (within the age range of 3 months to 6 years)	Pathogenic	rs1553553485	RCV000504593
Febrile seizures, familial, 1	Pathogenic; Likely pathogenic	rs1684663586, rs121918782	RCV003483768 RCV005863391
Febrile seizures, familial, 3a	Likely pathogenic; Pathogenic	rs121918624, rs121918631, rs121917935	RCV005243098 RCV000993711 RCV005243110
Focal epilepsy	Likely pathogenic; Pathogenic	rs121917993, rs121917994	RCV000059427 RCV000059434
Focal impaired awareness seizure	Pathogenic	rs794726827	RCV001290257
Focal-onset seizure	Pathogenic; Likely pathogenic	rs773545020, rs121917994	RCV001814638 RCV001003955
Generalized epilepsy	Pathogenic	rs121917990	RCV000059384
Generalized epilepsy with febrile seizures plus	Likely pathogenic; Pathogenic	rs794726826, rs1057518703, rs121918738, rs61741123	RCV005889656 RCV005900683 RCV005902056 RCV002508953
Generalized epilepsy with febrile seizures plus, type 1	Likely pathogenic; Pathogenic	rs121918623, rs121917953, rs121917954, rs121917955, rs121917930, rs121918626, rs121918627, rs121917957, rs121918781, rs121918782, rs121918811, rs121918744, rs121918783, rs1696619508	RCV000059471 RCV000059448 RCV000059409 RCV000059433 RCV000059402 RCV000059501 RCV000059508 RCV000059374 RCV000059462 RCV000059466 RCV000059522 RCV000059528 RCV000059544 RCV001171310
Generalized epilepsy with febrile seizures plus, type 2	Likely pathogenic; Pathogenic	rs760906812, rs746413385, rs2105868295, rs2105432236, rs2105423415, rs2105425236, rs1696624989, rs2105918665, rs2105433855, rs2105794473, rs121917913, rs1553549667, rs2105851922, rs1574007140, rs1553542262 View all (153 more)	RCV005243521 RCV004546642 RCV001374630 RCV001376169 RCV002246355 RCV001527710 RCV005429056 RCV001537934 RCV001580609 RCV001771806 RCV001779411 RCV005023255 RCV001785388 RCV001806318 RCV001836684 RCV004796692 RCV002246609 RCV002479417 RCV005017082 RCV002249158 RCV002249160 RCV002249161 RCV002250305 RCV002250306 RCV002250307 RCV002250308 RCV002250309 RCV002250310 RCV002250311 RCV002250312 RCV002250313 RCV002250314 RCV002250316 RCV002250317 RCV002250318 RCV002250319 RCV002250320 RCV002250321 RCV002250322 RCV002250323 RCV002250324 RCV002250325 RCV002250326 RCV002274272 RCV002274400 RCV002289128 RCV002289159 RCV002289315 RCV002290267 RCV002492580 RCV002463566 RCV002463567 RCV002463568 RCV002463569 RCV002466353 RCV002468856 RCV002471827 RCV002470205 RCV000995637 RCV001842506 RCV001580464 RCV003128152 RCV001527712 RCV002272155 RCV001727612 RCV000763459 RCV003224181 RCV005243144 RCV001004670 RCV001004730 RCV000170444 RCV002510721 RCV001004746 RCV002227087 RCV000763458 RCV001194614 RCV002247609 RCV002247608 RCV002247607 RCV002250315 RCV005025307 RCV000677680 RCV003985290 RCV002500578 RCV005621917 RCV003128169 RCV003128372 RCV003153192 RCV000768077 RCV003335793 RCV003335794 RCV000013742 RCV000013743 RCV000013744 RCV000013745 RCV000013746 RCV000013747 RCV000763461 RCV000013751 RCV000013752 RCV000013755 RCV000013757 RCV000013758 RCV000013761 RCV003445323 RCV003883276 RCV003883365 RCV004545968 RCV005871513 RCV002274024 RCV002248644 RCV001270445 RCV000415450 RCV001004732 RCV002244954 RCV001262228 RCV000578331 RCV000626120 RCV002510580 RCV002249425 RCV002500983 RCV000767349 RCV004577950 RCV000850510 RCV001775078 RCV002262611 RCV000763463 RCV001004709 RCV004796001 RCV001836729 RCV001249684 RCV001031013 RCV000763457 RCV004760364 RCV001849308 RCV002470754 RCV005243110 RCV000763460 RCV002247463 RCV003157390 RCV000118240 RCV001253411 RCV001711166 RCV000995860 RCV001031009 RCV001030999 RCV001004703 RCV001004752 RCV001004698 RCV001809961 RCV001194608 RCV003483768 RCV001090160 RCV002249679 RCV001194615 RCV001194610 RCV001194609 RCV001194612 RCV005863391 RCV002497799 RCV005909138 RCV002246223 RCV001253752 RCV001253337 RCV001528184 RCV001255853 RCV001262959 RCV001262229 RCV001543135 RCV000515441 RCV002247477
Global developmental delay	Pathogenic	rs794726827, rs121917984	RCV001003957 RCV001003956
Intellectual disability	Likely pathogenic; Pathogenic	rs794726770, rs781746113, rs121918624, rs1085307484, rs1553548194	RCV001255366 RCV001255357 RCV001257707 RCV001257670 RCV000626774
Lung cancer	Pathogenic	rs1559199628	RCV005901692
Macrocephaly and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs121917995	RCV000059431
Microcephaly	Likely pathogenic; Pathogenic	rs121917994	RCV001003955
Migraine, familial hemiplegic, 3	Likely pathogenic; Pathogenic	rs746413385, rs1553549667, rs2105486615, rs2105889878, rs2105901693, rs2468098342, rs121918737, rs797044985, rs2468233136, rs2468340621, rs2468223021, rs727504136, rs794726739, rs794726759, rs794726752 View all (44 more)	RCV004546642 RCV005023255 RCV004796692 RCV002479417 RCV005017082 RCV002281609 RCV002281610 RCV002281611 RCV002281612 RCV002281613 RCV002281614 RCV002492580 RCV002281566 RCV001813764 RCV002221506 RCV002281564 RCV000763459 RCV003224181 RCV000768306 RCV002281570 RCV000763458 RCV005025307 RCV002500578 RCV001197105 RCV003128169 RCV000768077 RCV000763461 RCV000013753 RCV003595856 RCV000013765 RCV000013766 RCV003883276 RCV003883365 RCV002221562 RCV002500983 RCV000850510 RCV002262611 RCV001198232 RCV000763463 RCV001199316 RCV001197275 RCV004796002 RCV001249684 RCV002281560 RCV000763457 RCV002490666 RCV000763460 RCV003483768 RCV001195896 RCV001198758 RCV001198998 RCV001197624 RCV001196648 RCV001197011 RCV001195991 RCV001199340 RCV005863391 RCV002497799 RCV000515441
Mild intellectual disability	Pathogenic	rs121917929	RCV000857236
Myoclonic encephalopathy	Pathogenic	rs121917996	RCV000059423
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA)	Likely pathogenic	rs2468225401	RCV005623546
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2105569724	RCV001374977
Obesity	Likely pathogenic; Pathogenic	rs1553548194	RCV000626774
Ovarian serous cystadenocarcinoma	Pathogenic	rs1689986058	RCV005909109
Primary generalized epilepsy	Pathogenic	rs1559144583	RCV000678840
SCN1A Seizure Disorders	Pathogenic; Likely pathogenic	rs794726726, rs796053099, rs2468132693, rs1574266816	RCV003389241 RCV001265591 RCV003315103 RCV004794469
SCN1A-related channelopathy	Likely pathogenic	rs1689207347	RCV001822989
SCN1A-related disorder	Likely pathogenic; Pathogenic	rs1574202324, rs1131691773, rs794726754, rs794726752, rs794726697, rs794726730, rs794726736, rs794726799, rs139300715, rs796053010, rs121918800, rs121917995, rs886042528, rs121918623, rs121918778 View all (10 more)	RCV004545827 RCV005868384 RCV005867985 RCV005867984 RCV004725018 RCV004535158 RCV004528926 RCV005867986 RCV004734834 RCV005868431 RCV004536424 RCV005870125 RCV004543016 RCV004724740 RCV004531643 RCV004542690 RCV004545630 RCV005871488 RCV005869651 RCV004527750 RCV005867845 RCV004542733 RCV004528363 RCV004537326 RCV005867865
See cases	Likely pathogenic; Pathogenic	rs121917961, rs794726827, rs121917945	RCV002252740 RCV004797789 RCV003224861
Seizure	Likely pathogenic; Pathogenic	rs760906812, rs2105843552, rs2105547148, rs1553541172, rs2105866757, rs2105829160, rs2105852267, rs2468141601, rs727504136, rs1553523138, rs794726710, rs794726697, rs794726775, rs794726799, rs794726827 View all (29 more)	RCV001353143 RCV001374452 RCV001391280 RCV002276346 RCV002276347 RCV002275919 RCV002275468 RCV002279982 RCV005624331 RCV006262016 RCV000585684 RCV001786337 RCV005624334 RCV002274946 RCV001003957 RCV000502228 RCV000194307 RCV000991076 RCV004554602 RCV004547430 RCV004547432 RCV004547436 RCV004555144 RCV004556146 RCV004586486 RCV000502041 RCV000504450 RCV000626774 RCV002463740 RCV002275232 RCV000857236 RCV005624314 RCV001264404 RCV006261948 RCV005624315 RCV005624316 RCV001003956 RCV000193290 RCV001175166 RCV005624472 RCV001263093 RCV002274894 RCV006261950 RCV005624322
Severe myoclonic epilepsy in infancy	Pathogenic; Likely pathogenic	rs794726749, rs779184118, rs760906812, rs746413385, rs2105868295, rs1573947939, rs1553532671, rs1553547448, rs121918631, rs2105808640, rs1553543340, rs2105889854, rs2105449751, rs2105429648, rs121918788 View all (494 more)	RCV001328665 RCV001334845 RCV005243521 RCV004546642 RCV001374630 RCV001375625 RCV001375622 RCV001375626 RCV001375629 RCV003326150 RCV004596450 RCV002283547 RCV001420146 RCV001788511 RCV001530193 RCV003992532 RCV001533454 RCV001535823 RCV001535825 RCV001837541 RCV001706836 RCV001706948 RCV001724786 RCV002222067 RCV002222068 RCV002222070 RCV002222071 RCV001731219 RCV001731221 RCV005023255 RCV004762180 RCV001794530 RCV001794532 RCV001797854 RCV001814639 RCV001823029 RCV004796692 RCV004594613 RCV003228035 RCV005253949 RCV002479417 RCV005017082 RCV002052236 RCV002243592 RCV002251785 RCV002267684 RCV002267698 RCV002276250 RCV002283736 RCV002283766 RCV002283806 RCV002284135 RCV002284136 RCV002284137 RCV002284138 RCV002284139 RCV002284141 RCV002284146 RCV002284147 RCV002289068 RCV002289212 RCV003992625 RCV002290414 RCV000153888 RCV004577923 RCV002463570 RCV002465066 RCV002466351 RCV002466354 RCV002468781 RCV002471421 RCV000180845 RCV000180848 RCV000180975 RCV000180864 RCV000180834 RCV000180812 RCV000180919 RCV000180885 RCV000180897 RCV000180896 RCV000180850 RCV000180899 RCV000180959 RCV000180939 RCV000180829 RCV000180805 RCV000180804 RCV000180878 RCV000180920 RCV000180924 RCV000180859 RCV000180982 RCV000180849 RCV000180866 RCV000180799 RCV000180871 RCV000180874 RCV000180944 RCV000180967 RCV000180961 RCV000180873 RCV000180823 RCV000180803 RCV000180981 RCV000180901 RCV000180918 RCV000180954 RCV000180870 RCV000180863 RCV000180950 RCV000180963 RCV000180875 RCV000180931 RCV000180797 RCV000180842 RCV000180800 RCV000180808 RCV000180900 RCV000180855 RCV000180970 RCV000180810 RCV000180895 RCV000180946 RCV000180947 RCV000180905 RCV000180830 RCV000180922 RCV000180941 RCV000180801 RCV000180985 RCV000180839 RCV000180984 RCV000180969 RCV000180813 RCV000180832 RCV000180942 RCV000180836 RCV000180809 RCV000180886 RCV000180843 RCV000180854 RCV000180987 RCV000180814 RCV000180826 RCV000180964 RCV000180890 RCV000180838 RCV000180837 RCV000180841 RCV000180930 RCV000180868 RCV000180935 RCV000180957 RCV000180818 RCV000180888 RCV000180819 RCV000180972 RCV000180955 RCV000180948 RCV000180811 RCV000180929 RCV000180820 RCV000180835 RCV000180915 RCV000180822 RCV000180827 RCV000180876 RCV000180940 RCV000180902 RCV000180903 RCV000180798 RCV000180891 RCV000180816 RCV000174714 RCV000180911 RCV000180847 RCV000180925 RCV000180869 RCV000180945 RCV000180882 RCV000180861 RCV000180853 RCV000180852 RCV000180923 RCV000180912 RCV000174291 RCV000180926 RCV000180858 RCV000180966 RCV000180894 RCV000180962 RCV000180844 RCV000180807 RCV000180889 RCV000180860 RCV000180821 RCV000180802 RCV000180906 RCV000180956 RCV000180928 RCV000180932 RCV000180872 RCV000180952 RCV000180833 RCV000180943 RCV000180892 RCV000180893 RCV000180881 RCV000180865 RCV000180840 RCV000180917 RCV000180796 RCV000180908 RCV000180825 RCV000180883 RCV000180884 RCV000180974 RCV000180898 RCV000180914 RCV000180973 RCV000180916 RCV000180949 RCV000180965 RCV000180976 RCV000180904 RCV000180977 RCV000180934 RCV000180887 RCV000180862 RCV000180938 RCV000180867 RCV000180824 RCV000180831 RCV000180960 RCV000180953 RCV000180828 RCV000180856 RCV000180968 RCV000180980 RCV000180880 RCV000180921 RCV000180958 RCV000180815 RCV000180910 RCV000180851 RCV000180913 RCV000180877 RCV000180907 RCV000180846 RCV000180979 RCV002288778 RCV005208197 RCV005254720 RCV004763552 RCV002510675 RCV002510676 RCV002510743 RCV000178154 RCV000986878 RCV000986894 RCV004577517 RCV003992218 RCV000416525 RCV000201073 RCV004804286 RCV000201135 RCV001375621 RCV005025307 RCV001528187 RCV000986909 RCV001253376 RCV003448282 RCV000500830 RCV002500578 RCV003483899 RCV000201173 RCV000201155 RCV000201009 RCV000201064 RCV000201129 RCV000201200 RCV000201025 RCV000201079 RCV000201121 RCV000201161 RCV000209833 RCV000209951 RCV002789969 RCV003128169 RCV003128170 RCV003128174 RCV003130927 RCV005241257 RCV000768077 RCV000258942 RCV000986918 RCV003147436 RCV003234626 RCV003234956 RCV000314247 RCV003314358 RCV003459827 RCV003322714 RCV003324608 RCV003326175 RCV003326177 RCV003326178 RCV003334430 RCV000059521 RCV001253103 RCV003992150 RCV003992151 RCV000032603 RCV000032604 RCV000032605 RCV003992152 RCV000013754 RCV000013756 RCV003595856 RCV000032609 RCV003992154 RCV003455878 RCV003485998 RCV003494564 RCV003883276 RCV003883365 RCV003988728 RCV003992841 RCV003992843 RCV003989929 RCV003989046 RCV003989079 RCV003990578 RCV003989364 RCV003993583 RCV003991796 RCV004577702 RCV004577932 RCV004577933 RCV001328664 RCV003992286 RCV000414903 RCV000415450 RCV000417022 RCV000416955 RCV000416974 RCV000417006 RCV000022764 RCV000022765 RCV000986887 RCV003221302 RCV002244954 RCV001814163 RCV000986891 RCV005869579 RCV003992313 RCV001253601 RCV004760562 RCV000986898 RCV000578191 RCV002289845 RCV000585857 RCV000585813 RCV000585806 RCV000585829 RCV000588446 RCV001253286 RCV002289971 RCV000986888 RCV002283507 RCV002500983 RCV001528183 RCV000850510 RCV000855539 RCV000986870 RCV000986871 RCV000986872 RCV000986875 RCV000986877 RCV000986879 RCV000986881 RCV000986882 RCV000986885 RCV000986889 RCV000986892 RCV000986893 RCV000986895 RCV000986897 RCV000986900 RCV000986901 RCV000986904 RCV000986905 RCV000986906 RCV000986907 RCV000986908 RCV000986910 RCV000986911 RCV000986912 RCV000986913 RCV000986914 RCV000986917 RCV000986919 RCV000986920 RCV000986921 RCV000059372 RCV000180936 RCV000059376 RCV000059377 RCV000059378 RCV000059380 RCV000059381 RCV000180909 RCV000059390 RCV000059392 RCV000059393 RCV000059395 RCV000059396 RCV000059399 RCV000059400 RCV000059403 RCV000059404 RCV000059406 RCV000059411 RCV000059412 RCV000059414 RCV000059417 RCV000059418 RCV000059425 RCV000059426 RCV001253159 RCV000059428 RCV003448258 RCV000059432 RCV000059439 RCV000059440 RCV000059442 RCV000059443 RCV000059444 RCV000059445 RCV000059446 RCV000059449 RCV000059451 RCV000059453 RCV000059454 RCV000059455 RCV000059456 RCV000059457 RCV000059459 RCV000059460 RCV000059461 RCV003992173 RCV000059470 RCV000059473 RCV000059474 RCV000059475 RCV000059477 RCV000059479 RCV000059481 RCV000059482 RCV000059483 RCV000059484 RCV000059486 RCV000059492 RCV000059494 RCV000059496 RCV000059502 RCV000059509 RCV000059510 RCV000059516 RCV000059520 RCV003992175 RCV000059523 RCV000059524 RCV003992176 RCV000059529 RCV000059536 RCV000059537 RCV000059538 RCV000059539 RCV000059541 RCV000059542 RCV000180879 RCV000059548 RCV000059549 RCV000059552 RCV000995638 RCV001003341 RCV001027711 RCV001089717 RCV001328666 RCV001809976 RCV001290253 RCV002283519 RCV003483768 RCV001089695 RCV001089696 RCV001089690 RCV001089686 RCV001089693 RCV001089692 RCV001089691 RCV001089694 RCV001089899 RCV001089990 RCV001090160 RCV001095640 RCV001169858 RCV003992456 RCV001194607 RCV004761970 RCV004594251 RCV004699130 RCV003313993 RCV003992474 RCV002510589 RCV005622083 RCV005860199 RCV002497799 RCV005909138 RCV002290651 RCV001249174 RCV001250741 RCV001253471 RCV001253422 RCV001253083 RCV001253126 RCV001253084 RCV001255853 RCV001255862 RCV001256670 RCV001260587 RCV001261536 RCV001775164 RCV003992489 RCV001289475 RCV000174048 RCV003992180 RCV001509554
Sudden unexplained death in childhood	Likely pathogenic	rs2105476794, rs1553560766	RCV001787424 RCV001787423

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute encephalopathy	Conflicting classifications of pathogenicity	rs1559122124	RCV001251425
Autosomal dominant SCN1A-related disorder	Uncertain significance	rs727504143	RCV000984909
Bilateral tonic-clonic seizure	Conflicting classifications of pathogenicity	rs121918799	RCV000415355
carbamazepine response - Dosage	drug response	rs3812718	RCV000211149
Complex neurodevelopmental disorder	Uncertain significance	rs1057524737	RCV005898142
Gastric cancer	Benign; Likely benign	rs372840031	RCV005867864
Generalized non-motor (absence) seizure	Conflicting classifications of pathogenicity	rs121918799	RCV000415355
Malignant lymphoma, large B-cell, diffuse	Benign	rs10167228, rs10930201	RCV005902213 RCV005902212
Malignant tumor of esophagus	Benign	rs72871938, rs6706163	RCV005915639 RCV005903944
Mitochondrial disease	Uncertain significance	rs148703212	RCV005625640
Myoclonic epilepsy	Uncertain significance	rs145670933	RCV000678838
Ovarian cancer	Benign; Likely benign	rs372840031	RCV005867863
pharmacoresistant multifocal epilepsy	Uncertain significance	rs1559149025	RCV000678839
Sarcoma	Likely benign	rs13398882	RCV005905415
SCN1A-related epilepsy syndrome, recessive	Conflicting classifications of pathogenicity	rs1689190343	RCV005253751
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity	rs121918817, rs121918799	RCV000655983 RCV000655982
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	rs1697296215, rs375896308	RCV001787410 RCV001788307
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	rs7591522, rs6706163, rs1692186944	RCV005895966 RCV005903946 RCV005912435
Weaver syndrome	Conflicting classifications of pathogenicity	rs1373733895	RCV005621979
West syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs2105610731, rs121918802	RCV001375623 RCV000059551

Show/Hide Text Mining Associations (138)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Disease	Associate	21426328
Acute Febrile Encephalopathy	Associate	19214208, 20491869, 21906962, 22092154, 22309220
Alcohol Related Disorders	Associate	31765958
Alzheimer Disease	Associate	38061235
Angelman Syndrome	Associate	36750385
Anxiety Disorders	Associate	19464195
Apnea	Associate	35696452
Arrhythmias Cardiac	Associate	30146492
Arthrogryposis	Associate	32928894, 33820833, 35696452
Ataxia	Associate	19464195, 22000312
Atrophy	Associate	37344172
Attention Deficit Disorder with Hyperactivity	Associate	21426328
Autism Spectrum Disorder	Associate	21572417, 22495309, 26637798, 27956748, 30071822, 32722525, 33460646
Autistic Disorder	Associate	21906962, 34368859, 37583270
Body Dysmorphic Disorders	Associate	26993267
Bone Diseases Developmental	Associate	33820833
Bradycardia	Associate	28732259
Brain Diseases	Associate	18413471, 20879882, 21426328, 21753172, 23586701, 24776920, 25268096, 25818041, 27236449, 28518218, 29190809, 29466837, 29981888, 32193085, 32928894 View all (4 more)
Brain Ischemia	Associate	21426328
Cardiovascular Abnormalities	Associate	28732259
Channelopathies	Associate	21555645, 33712547
Charcot Marie Tooth disease Type 1D	Associate	26544041
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	28794249
Cognition Disorders	Associate	24328833, 28012175, 30735520, 38167335
Cognitive Dysfunction	Associate	21906962
Colorectal Neoplasms	Associate	31672162
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	32168371
Cytochrome c Oxidase Deficiency	Associate	21906962
Deafness Autosomal Dominant 1	Associate	37955180
Death	Associate	24372310, 29601086, 35715422, 36938796
Death Sudden	Associate	26716362, 32449611, 36750385
Developmental Disabilities	Associate	31056551, 31445158, 33460646, 37467773, 37583270, 40085430, 40120363
Diastrophic dysplasia	Associate	32005694
Disease	Associate	19464195
Disease Resistance	Associate	29353705
Distal myopathy Nonaka type	Associate	32544858
Down Syndrome	Associate	37583270
Drug Resistant Epilepsy	Associate	15028761, 19464195, 19694741, 28525652, 29353705, 30185235, 35136380, 36056404, 38232648, 39383605
Dysgammaglobulinemia	Associate	25669891
Dyspnea	Associate	36229510
Dystonic Disorders	Associate	12900796
Early Onset Glaucoma	Associate	40180227
Encephalitis	Associate	18031552
Eosinophilic Esophagitis	Associate	27236449
Epilepsies Myoclonic	Associate	11359211, 12027919, 12773292, 14672992, 14738421, 15028761, 15263074, 15944908, 16210358, 16380441, 17054684, 17054685, 17054696, 17054697, 17065438 View all (149 more)
Epilepsies Partial	Associate	18413471, 20550552, 32538476, 37390664
Epilepsy	Associate	11118488, 11254445, 12086636, 14672992, 14738422, 15041696, 15263074, 15805193, 16210358, 16380441, 17065438, 18242854, 18294202, 18413471, 19464195 View all (91 more)
Epilepsy	Inhibit	39781574
Epilepsy Absence	Associate	27113213, 28518218
Epilepsy Benign Neonatal	Associate	21204806, 23163885
Epilepsy Generalized	Associate	11254445, 12773292, 19292758, 19400878, 24417206
Epilepsy Idiopathic Generalized	Associate	14738422, 15944908, 24842605, 25268096, 36374051
Epilepsy Intractable Childhood With Generalized Tonic Clonic Seizures	Associate	16210358
Epilepsy Partial Motor	Associate	32853554
Epilepsy Temporal Lobe	Associate	17565594, 33370868, 40634438
Epilepsy Tonic Clonic	Associate	36229510
Epileptic Encephalopathy Early Infantile 3	Associate	28794249, 30526861, 30735520, 31176277, 32853554, 34181986, 35696452, 36361691, 36571524, 36750385, 36868483, 37467773, 37482918, 37867425, 39915231
Epileptic Encephalopathy Early Infantile 3	Stimulate	36084525
Epileptic Syndromes	Associate	12086630, 14672992, 15694566, 17065438, 17928445, 18021921, 18031552, 21775168, 22151702, 24417206, 26990884, 28664031, 30735520, 32032478, 32193085 View all (4 more)
Eyelid Diseases	Associate	34521063
Facial Paralysis	Associate	37510386
Febrile Convulsions Familial 2	Associate	22151702
Fever	Associate	21204810, 22000312, 24277604, 30737342, 31714027, 34226156, 35022648
Focal Cortical Dysplasia	Associate	24902755
Focal cortical dysplasia of Taylor	Associate	24902755
Frasier Syndrome	Associate	12027919, 14738422, 20550552
Gait Ataxia	Associate	22780858
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	10486327, 11254444, 11359211, 14672992, 14738422, 15694566, 15827091, 15944908, 16359470, 16380441, 17065438, 17561957, 17565594, 18031552, 19292758 View all (24 more)
Generalized Epilepsy With Febrile Seizures Plus Type 2	Associate	11254445, 16210358
Genetic Diseases Inborn	Associate	18479393, 37955180, 39202364
Glaucoma Open Angle	Associate	34348663
Hand Injuries	Associate	24776920
Headache Disorders Primary	Associate	21713554
Heart Diseases	Associate	24427266, 32761786, 33712547
Hemiplegia	Associate	19563349, 40003892
Hippocampal Sclerosis	Associate	29601086, 32761786
Hyperkinesis	Associate	24776920, 28794249
Immune System Diseases	Associate	33726816
Infantile Epileptic Dyskinetic Encephalopathy	Associate	28387369, 37467773, 37593999
Intellectual Disability	Associate	20384724, 24328833, 27113213, 33278787, 35696452
Language Development Disorders	Associate	19214208, 34979672
Language Disorders	Associate	28148630
Lennox Gastaut Syndrome	Associate	33912281
Leukoencephalopathies	Associate	21426328
Lymphocytosis	Associate	25669891
Macular dystrophy corneal type 1	Associate	24902755
Malformations of Cortical Development	Associate	24902755
Melkersson Rosenthal Syndrome	Associate	37510386
Mental Disorders	Associate	22309220
Migraine Disorders	Associate	18021921, 26747084, 37510386, 39781574
Migraine Familial Basilar	Associate	33460646
Migraine Familial Hemiplegic 3	Associate	18021921, 18621678, 26747084, 31730442, 35696452, 39781574
Migraine with Aura	Associate	17119788, 18021921, 18056581, 18621678, 22784462, 26747084, 26763045, 28593511, 31586957, 31730442, 31980564, 33126486, 34320921, 37510386, 40003892
Mitochondrial Complex III Deficiency	Associate	21906962
Mitochondrial Diseases	Associate	21906962
Motor Disorders	Associate	32928894
Movement Disorders	Associate	24776920, 28794249, 34521063, 35696452, 37583270
Myoclonic Epilepsy Juvenile	Associate	24842605
Myoclonus	Associate	18021921, 22000312
Neoplastic Syndromes Hereditary	Associate	17065438
Nerve Degeneration	Associate	18021921, 18031552
Neurodegenerative Diseases	Associate	28837158, 36938796
Neurologic Manifestations	Associate	23586701
Neutropenia	Associate	25669891
Obesity	Associate	31662442
Pain	Associate	24275226, 28621020, 32532910
Paralyses Familial Periodic	Associate	11118488
Paralysis Hyperkalemic Periodic	Associate	14672992, 16210358
Pathological Conditions Anatomical	Associate	33108073
Periventricular Nodular Heterotopia	Associate	24902755
Platelet Signal Processing Defect	Associate	21426328
Poisoning	Inhibit	30526861
Psychomotor Agitation	Associate	36868483
Psychomotor Disorders	Associate	33108073
Psychotic Disorders	Associate	39950246
Rett Syndrome	Associate	30305042
Seizures	Associate	12086630, 17884755, 18021921, 18031552, 19214208, 20447868, 20550552, 21204810, 21555645, 21753172, 21865128, 21906962, 22092154, 22309220, 22591328 View all (30 more)
Seizures Febrile	Associate	11254445, 12086636, 12773292, 15263074, 16326807, 17054684, 17565594, 19054398, 19292758, 20477842, 20550552, 20630778, 21204810, 21753172, 21762453 View all (19 more)
Sepsis	Associate	21426328
Signs and Symptoms	Associate	24275226
Signs and Symptoms Digestive	Associate	34181986, 37523795
Sleep Wake Disorders	Associate	28732259
Slow Virus Diseases	Associate	24328833
Spasm	Associate	37583270
Spasms Infantile	Associate	23586701, 25268096, 37583270
Status Epilepticus	Associate	21426328, 22780858, 23586701, 24225340, 32193085, 32773773, 33278787, 34226156, 36229510, 36750385, 39915231
Stevens Johnson Syndrome	Associate	18489610
Substance Related Disorders	Associate	38061235
Sudden Infant Death	Associate	29601086
Sudden Unexpected Death in Epilepsy	Associate	20738378, 24372310, 24902755, 28333919, 30146492
Syndactyly type v	Associate	23945787
Syndrome	Associate	23586701, 24328833
Thrombocytopenia	Associate	39202364
Vaginal Discharge	Associate	24328833
Voice Disorders	Associate	19214208
Vomiting	Associate	36229510
West Nile Fever	Associate	21881118
Wolf Hirschhorn Syndrome	Associate	28102593

SCN1A (sodium voltage-gated channel alpha subunit 1)