You searched for: Dravet syndrome

Found 82 variants. Export table to Excel

Variant ID	Entrez Gene ID	Gene	Location	Mutation	Disease	Method
246	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
247	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
248	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
249	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
295	6323	SCN1A	hg19 2:166911170-166911170 hg38 2:166054660-166054660	NC_000002.11:g.166911170 C>T	Dravet syndrome	Taqman
317	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 G>A	Dravet syndrome	RFLP
318	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 G>A	Dravet syndrome	RFLP
319	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 G>A	Dravet syndrome	RFLP
422	6323	SCN1A	hg19 2:166911147-166911147 hg38 2:166054637-166054637	NC_000002.11:g.166911147 C>T	Dravet syndrome	DHPLC
423	6323	SCN1A	hg19 2:166911147-166911147 hg38 2:166054637-166054637	NC_000002.11:g.166911147 C>T	Dravet syndrome	DHPLC
424	6323	SCN1A	hg19 2:166911147-166911147 hg38 2:166054637-166054637	NC_000002.11:g.166911147 C>T	Dravet syndrome	DHPLC
425	6323	SCN1A	hg19 2:166908463-166908463 hg38 2:166051953-166051953	NC_000002.11:g.166908463 C>A	Dravet syndrome	RFLP
426	6323	SCN1A	hg19 2:166908457-166908457 hg38 2:166051947-166051947	NC_000002.11:g.166908457 T>A	Dravet syndrome	RFLP
451	6323	SCN1A	hg19 2:166894291-166894291 hg38 2:166037781-166037781	NC_000002.11:g.166894291 C>T	Dravet syndrome	DHPLC
452	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
453	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
454	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
455	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
642	6323	SCN1A	hg19 2:166848438-166848438 hg38 2:165991928-165991928	NC_000002.11:g.166848438 C>T	Dravet syndrome	PASM
643	6323	SCN1A	hg19 2:166915126-166915126 hg38 2:166058616-166058616	NC_000002.11:g.166915126 G>T	Dravet syndrome	PASM
644	6323	SCN1A	hg19 2:166894440-166894440 hg38 2:166037930-166037930	NC_000002.11:g.166894440 C>T	Dravet syndrome	PASM
645	6323	SCN1A	hg19 2:166848852-166848852 hg38 2:165992342-165992342	NC_000002.11:g.166848852 G>A	Dravet syndrome	PASM
646	6323	SCN1A	hg19 2:166848230-166848230 hg38 2:165991720-165991720	NC_000002.11:g.166848230 A>G	Dravet syndrome	PASM
647	6323	SCN1A	hg19 2:166904137-166904137 hg38 2:166047627-166047627	NC_000002.11:g.166904137 C>A	Dravet syndrome	PASM
648	6323	SCN1A	hg19 2:166895930-166895930 hg38 2:166039420-166039420	NC_000002.11:g.166895930 T>A	Dravet syndrome	PASM
649	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 G>A	Dravet syndrome	PASM
650	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 G>A	Dravet syndrome	PASM
651	6323	SCN1A	hg19 2:166868771-166868772 hg38 2:166012261-166012262	NC_000002.11:g.166868771_166868772 ins AT	Dravet syndrome	PASM
652	6323	SCN1A	hg19 2:166859043-166859043 hg38 2:166002533-166002533	NC_000002.11:g.166859043 C>T	Dravet syndrome	PASM
653	6323	SCN1A	hg19 2:166915194-166915194 hg38 2:166058684-166058684	NC_000002.11:g.166915194 A>G	Dravet syndrome	PASM
654	6323	SCN1A	hg19 2:166894396-166894396 hg38 2:166037886-166037886	NC_000002.11:g.166894396 G>A	Dravet syndrome	PASM
655	6323	SCN1A	hg19 2:166894554-166894554 hg38 2:166038044-166038044	NC_000002.11:g.166894554 A>T	Dravet syndrome	PASM
656	6323	SCN1A	hg19 2:166901776-166901776 hg38 2:166045266-166045266	NC_000002.11:g.166901776_166901776 del	Dravet syndrome	PASM
657	6323	SCN1A	hg19 2:166904189-166904189 hg38 2:166047679-166047679	NC_000002.11:g.166904189_166904189 del	Dravet syndrome	PASM
658	6323	SCN1A	hg19 2:166854673-166854673 hg38 2:165998163-165998163	NC_000002.11:g.166854673 G>T	Dravet syndrome	PASM
659	6323	SCN1A	hg19 2:166894639-166894639 hg38 2:166038129-166038129	NC_000002.11:g.166894639 G>A	Dravet syndrome	PASM
660	6323	SCN1A	hg19 2:166848782-166848782 hg38 2:165992272-165992272	NC_000002.11:g.166848782 G>C	Dravet syndrome	PASM
661	6323	SCN1A	hg19 2:166856269-166856269 hg38 2:165999759-165999759	NC_000002.11:g.166856269 C>T	Dravet syndrome	PASM
29947	6323	SCN1A	hg19 2:166904194-166904194 hg38 2:166047684-166047684	NC_000002.11:g.166904194_166904194 del	Dravet syndrome	Sanger mDDPCR PASM
29948	6323	SCN1A	hg19 2:166894639-166894639 hg38 2:166038129-166038129	NC_000002.11:g.166894639 C>T	Dravet syndrome	Sanger mDDPCR PASM
29949	6323	SCN1A	hg19 2:166848438-166848438 hg38 2:165991928-165991928	NC_000002.11:g.166848438 G>A	Dravet syndrome	Sanger mDDPCR PASM
29950	6323	SCN1A	hg19 2:166848230-166848230 hg38 2:165991720-165991720	NC_000002.11:g.166848230 T>C	Dravet syndrome	Sanger mDDPCR PASM
29951	6323	SCN1A	hg19 2:166894396-166894396 hg38 2:166037886-166037886	NC_000002.11:g.166894396 C>T	Dravet syndrome	Sanger mDDPCR PASM
29952	6323	SCN1A	hg19 2:166894440-166894440 hg38 2:166037930-166037930	NC_000002.11:g.166894440 G>A	Dravet syndrome	Sanger mDDPCR PASM
29953	6323	SCN1A	hg19 2:166900371-166900371 hg38 2:166043861-166043861	NC_000002.11:g.166900371_166900371 del	Dravet syndrome	Sanger mDDPCR PASM
29954	6323	SCN1A	hg19 2:166895938-166895938 hg38 2:166039428-166039428	NC_000002.11:g.166895938 C>T	Dravet syndrome	Sanger mDDPCR PASM
29955	6323	SCN1A	hg19 2:166904178-166904178 hg38 2:166047668-166047668	NC_000002.11:g.166904178 C>T	Dravet syndrome	Sanger mDDPCR PASM
29956	6323	SCN1A	hg19 2:166852541-166852541 hg38 2:165996031-165996031	NC_000002.11:g.166852541_166852541 del	Dravet syndrome	Sanger mDDPCR PASM
29957	6323	SCN1A	hg19 2:166894440-166894440 hg38 2:166037930-166037930	NC_000002.11:g.166894440 G>A	Dravet syndrome	Sanger mDDPCR PASM
29958	6323	SCN1A	hg19 2:166848852-166848852 hg38 2:165992342-165992342	NC_000002.11:g.166848852 C>T	Dravet syndrome	Sanger mDDPCR PASM
29959	6323	SCN1A	hg19 2:166915194-166915194 hg38 2:166058684-166058684	NC_000002.11:g.166915194 T>C	Dravet syndrome	Sanger mDDPCR PASM
29960	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 C>T	Dravet syndrome	Sanger mDDPCR PASM
29961	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 C>T	Dravet syndrome	Sanger mDDPCR PASM
29962	6323	SCN1A	hg19 2:166892659-166892659 hg38 2:166036149-166036149	NC_000002.11:g.166892659_166892659 del	Dravet syndrome	Sanger mDDPCR PASM
29963	6323	SCN1A	hg19 2:166904273-166904273 hg38 2:166047763-166047763	NC_000002.11:g.166904273 C>T	Dravet syndrome	Sanger mDDPCR PASM
29964	6323	SCN1A	hg19 2:166911262-166911262 hg38 2:166054752-166054752	NC_000002.11:g.166911262 C>T	Dravet syndrome	Sanger mDDPCR PASM
29965	6323	SCN1A	hg19 2:166848782-166848782 hg38 2:165992272-165992272	NC_000002.11:g.166848782 C>G	Dravet syndrome	Sanger mDDPCR PASM
29966	6323	SCN1A	hg19 2:166904178-166904178 hg38 2:166047668-166047668	NC_000002.11:g.166904178 C>T	Dravet syndrome	Sanger mDDPCR PASM
29967	6323	SCN1A	hg19 2:166901753-166901753 hg38 2:166045243-166045243	NC_000002.11:g.166901753_166901753 del	Dravet syndrome	Sanger mDDPCR PASM
29968	6323	SCN1A	hg19 2:166905453-166905453 hg38 2:166048943-166048943	NC_000002.11:g.166905453 A>C	Dravet syndrome	Sanger mDDPCR PASM
29969	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 C>T	Dravet syndrome	Sanger mDDPCR PASM
29970	6323	SCN1A	hg19 2:166894396-166894396 hg38 2:166037886-166037886	NC_000002.11:g.166894396 C>T	Dravet syndrome	Sanger mDDPCR PASM
29971	6323	SCN1A	hg19 2:166859043-166859043 hg38 2:166002533-166002533	NC_000002.11:g.166859043 G>A	Dravet syndrome	Sanger mDDPCR PASM
29972	6323	SCN1A	hg19 2:166898844-166898844 hg38 2:166042334-166042334	NC_000002.11:g.166898844 C>T	Dravet syndrome	Sanger mDDPCR PASM
29973	6323	SCN1A	hg19 2:166848864-166848864 hg38 2:165992354-165992354	NC_000002.11:g.166848864 G>A	Dravet syndrome	Sanger mDDPCR PASM
29974	6323	SCN1A	hg19 2:166854686-166854686 hg38 2:165998176-165998176	NC_000002.11:g.166854686 G>A	Dravet syndrome	Sanger mDDPCR PASM
29975	6323	SCN1A	hg19 2:166894436-166894436 hg38 2:166037926-166037926	NC_000002.11:g.166894436 C>G	Dravet syndrome	Sanger mDDPCR PASM
29976	6323	SCN1A	hg19 2:166872120-166872120 hg38 2:166015610-166015610	NC_000002.11:g.166872120_166872120 del	Dravet syndrome	Sanger mDDPCR PASM
29977	6323	SCN1A	hg19 2:166900385-166900385 hg38 2:166043875-166043875	NC_000002.11:g.166900385 G>A	Dravet syndrome	Sanger mDDPCR PASM
30173	6323	SCN1A	hg19 2:166915162-166915162 hg38 2:166058652-166058652	NC_000002.11:g.166915162 G>A	Dravet syndrome	smMIP
30174	6323	SCN1A	hg19 2:166852557-166852557 hg38 2:165996047-165996047	NC_000002.11:g.166852557 G>T	Dravet syndrome	smMIP
30175	6323	SCN1A	hg19 2:166854574-166854574 hg38 2:165998064-165998064	NC_000002.11:g.166854574 CT>C	Dravet syndrome	smMIP
30220	6323	SCN1A	hg19 2:166909399-166909434 hg38 2:166052889-166052924	NC_000002.11:g.166909399_166909434 del	Dravet syndrome	smMIP
30222	6323	SCN1A	hg19 2:166848592-166848592 hg38 2:165992082-165992082	NC_000002.11:g.166848592_166848592 del	Dravet syndrome	smMIP DDPCR
30223	6323	SCN1A	hg19 2:166848437-166848437 hg38 2:165991927-165991927	NC_000002.11:g.166848437 G>A	Dravet syndrome	smMIP
30225	6323	SCN1A	hg19 2:166905442-166905442 hg38 2:166048932-166048932	NC_000002.11:g.166905442 G>GG	Dravet syndrome	smMIP DDPCR
30226	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	smMIP DDPCR
30227	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	smMIP
30228	6323	SCN1A	hg19 2:166858991-166859004 hg38 2:166002481-166002494	NC_000002.11:g.166858991_166859004 del	Dravet syndrome	smMIP
34243	6323	SCN1A	hg19 2:166848782-166848782 hg38 2:165992272-165992272	NC_000002.11:g.166848782 G>C	Dravet syndrome	Whole Genome Sequencing Pyrosequencing Sanger Sequencing
34247	6323	SCN1A	hg19 2:166854673-166854673 hg38 2:165998163-165998163	NC_000002.11:g.166854673 G>T	Dravet syndrome	Whole Genome Sequencing Pyrosequencing Sanger Sequencing
34643	6323	SCN1A	hg19 2:166903479-166903479 hg38 2:166046969-166046969	NC_000002.11:g.166903479 C>T	Dravet syndrome	Whole Exome Sequencing Sanger Sequencing