Found 91 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 452 | 6323 | SCN1A | 2 | 166848545 | 166848545 | Dravet syndrome | RFLP |
| 453 | 6323 | SCN1A | 2 | 166848545 | 166848545 | Dravet syndrome | RFLP |
| 454 | 6323 | SCN1A | 2 | 166848545 | 166848545 | Dravet syndrome | RFLP |
| 455 | 6323 | SCN1A | 2 | 166848545 | 166848545 | Dravet syndrome | RFLP |
| 451 | 6323 | SCN1A | 2 | 166894291 | 166894291 | Dravet syndrome | RFLP DHPLC |
| 445 | 6323 | SCN1A | 2 | 166901591 | 166901591 | Severe myoclonic epilepsy of infancy | RFLP DHPLC TaqMAMA |
| 444 | 6323 | SCN1A | 2 | 166905461 | 166905461 | Severe myoclonic epilepsy of infancy | RFLP DHPLC TaqMAMA |
| 425 | 6323 | SCN1A | 2 | 166908463 | 166908463 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 426 | 6323 | SCN1A | 2 | 166908457 | 166908457 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 422 | 6323 | SCN1A | 2 | 166911147 | 166911147 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 423 | 6323 | SCN1A | 2 | 166911147 | 166911147 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 424 | 6323 | SCN1A | 2 | 166911147 | 166911147 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 317 | 6323 | SCN1A | 2 | 166866246 | 166866246 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 318 | 6323 | SCN1A | 2 | 166866246 | 166866246 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 319 | 6323 | SCN1A | 2 | 166866246 | 166866246 | Dravet syndrome | RFLP DHPLC TaqMAMA |
| 295 | 6323 | SCN1A | 2 | 166911170 | 166911170 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman |
| 246 | 6323 | SCN1A | 2 | 166901678 | 166901678 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger |
| 247 | 6323 | SCN1A | 2 | 166901678 | 166901678 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger |
| 248 | 6323 | SCN1A | 2 | 166901678 | 166901678 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger |
| 249 | 6323 | SCN1A | 2 | 166901678 | 166901678 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger |
| 34237 | NA | 17 | 52287119 | 52287119 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34238 | NA | 19 | 55529705 | 55529705 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34239 | NA | 19 | 56343191 | 56343191 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34240 | NA | 14 | 71380614 | 71380614 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34241 | NA | 16 | 84073033 | 84073033 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34242 | NA | 13 | 79932615 | 79932615 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34243 | 6323 | SCN1A | 2 | 166848782 | 166848782 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing |
| 34244 | NA | 1 | 72008400 | 72008400 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34245 | NA | 16 | 64312186 | 64312186 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34246 | NA | X | 68611473 | 68611473 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 34247 | 6323 | SCN1A | 2 | 166854673 | 166854673 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing |
| 34248 | NA | 13 | 89662020 | 89662020 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing | |
| 642 | 6323 | SCN1A | 2 | 166848438 | 166848438 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 643 | 6323 | SCN1A | 2 | 166915126 | 166915126 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 644 | 6323 | SCN1A | 2 | 166894440 | 166894440 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 645 | 6323 | SCN1A | 2 | 166848852 | 166848852 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 646 | 6323 | SCN1A | 2 | 166848230 | 166848230 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 647 | 6323 | SCN1A | 2 | 166904137 | 166904137 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 648 | 6323 | SCN1A | 2 | 166895930 | 166895930 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 649 | 6323 | SCN1A | 2 | 166868765 | 166868765 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 650 | 6323 | SCN1A | 2 | 166868765 | 166868765 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 651 | 6323 | SCN1A | 2 | 166868771 | 166868772 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 652 | 6323 | SCN1A | 2 | 166859043 | 166859043 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 653 | 6323 | SCN1A | 2 | 166915194 | 166915194 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 654 | 6323 | SCN1A | 2 | 166894396 | 166894396 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 655 | 6323 | SCN1A | 2 | 166894554 | 166894554 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 656 | 6323 | SCN1A | 2 | 166901776 | 166901776 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 657 | 6323 | SCN1A | 2 | 166904189 | 166904189 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 658 | 6323 | SCN1A | 2 | 166854673 | 166854673 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 659 | 6323 | SCN1A | 2 | 166894639 | 166894639 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 660 | 6323 | SCN1A | 2 | 166848782 | 166848782 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 661 | 6323 | SCN1A | 2 | 166856269 | 166856269 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM |
| 34643 | 6323 | SCN1A | 2 | 166903479 | 166903479 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing |
| 30208 | 6323 | SCN1A | 2 | 166852531 | 166852531 | EIEE6 | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR |
| 30209 | 6323 | SCN1A | 2 | 166915131 | 166915131 | EIEE6 | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture |
| 30210 | 6323 | SCN1A | 2 | 166903453 | 166903453 | EIEE6 | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture |
| 30211 | 6323 | SCN1A | 2 | 166929992 | 166929992 | EIEE6 | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture |
| 29947 | 6323 | SCN1A | 2 | 166904194 | 166904194 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29948 | 6323 | SCN1A | 2 | 166894639 | 166894639 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29949 | 6323 | SCN1A | 2 | 166848438 | 166848438 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29950 | 6323 | SCN1A | 2 | 166848230 | 166848230 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29951 | 6323 | SCN1A | 2 | 166894396 | 166894396 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29952 | 6323 | SCN1A | 2 | 166894440 | 166894440 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29953 | 6323 | SCN1A | 2 | 166900371 | 166900371 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29954 | 6323 | SCN1A | 2 | 166895938 | 166895938 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29955 | 6323 | SCN1A | 2 | 166904178 | 166904178 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29956 | 6323 | SCN1A | 2 | 166852541 | 166852541 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29957 | 6323 | SCN1A | 2 | 166894440 | 166894440 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29958 | 6323 | SCN1A | 2 | 166848852 | 166848852 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29959 | 6323 | SCN1A | 2 | 166915194 | 166915194 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29960 | 6323 | SCN1A | 2 | 166868765 | 166868765 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29961 | 6323 | SCN1A | 2 | 166866246 | 166866246 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29962 | 6323 | SCN1A | 2 | 166892659 | 166892659 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29963 | 6323 | SCN1A | 2 | 166904273 | 166904273 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29964 | 6323 | SCN1A | 2 | 166911262 | 166911262 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29965 | 6323 | SCN1A | 2 | 166848782 | 166848782 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29966 | 6323 | SCN1A | 2 | 166904178 | 166904178 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29967 | 6323 | SCN1A | 2 | 166901753 | 166901753 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29968 | 6323 | SCN1A | 2 | 166905453 | 166905453 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29969 | 6323 | SCN1A | 2 | 166868765 | 166868765 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29970 | 6323 | SCN1A | 2 | 166894396 | 166894396 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29971 | 6323 | SCN1A | 2 | 166859043 | 166859043 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29972 | 6323 | SCN1A | 2 | 166898844 | 166898844 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29973 | 6323 | SCN1A | 2 | 166848864 | 166848864 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29974 | 6323 | SCN1A | 2 | 166854686 | 166854686 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29975 | 6323 | SCN1A | 2 | 166894436 | 166894436 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29976 | 6323 | SCN1A | 2 | 166872120 | 166872120 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 29977 | 6323 | SCN1A | 2 | 166900385 | 166900385 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM |
| 30173 | 6323 | SCN1A | 2 | 166915162 | 166915162 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM smMIP |
| 30174 | 6323 | SCN1A | 2 | 166852557 | 166852557 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM smMIP |
| 30175 | 6323 | SCN1A | 2 | 166854574 | 166854574 | Dravet syndrome | RFLP DHPLC TaqMAMA Taqman Sanger Whole Genome Sequencing Pyrosequencing Sanger Sequencing PASM Whole Exome Sequencing Sanger Sequencing Raindance Emulsion PCR Custom capture Sanger mDDPCR PASM smMIP |