Severe myoclonic epilepsy in infancy
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Conflicting classifications of pathogenicity
5
Likely pathogenic
5
Pathogenic
18
Pathogenic/Likely pathogenic
8
Uncertain significance
7
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro) | Single nucleotide variant | Chr2:165992368 | Likely pathogenic | Missense variant|non-coding transcript variant | rs121917995 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys) | Single nucleotide variant | Chr2:165998102 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs794726809 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val) | Single nucleotide variant | Chr2:165992117 | Uncertain significance | Missense variant|non-coding transcript variant | rs2468336580 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) | Single nucleotide variant | Chr2:165991492 | Uncertain significance | Missense variant|non-coding transcript variant | rs1477444505 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser) | Single nucleotide variant | Chr2:165996024 | Uncertain significance | Missense variant|non-coding transcript variant | rs143088184 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr) | Single nucleotide variant | Chr2:165998087 | Uncertain significance | Missense variant|non-coding transcript variant | rs2105476040 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu) | Single nucleotide variant | Chr2:165998118 | Uncertain significance | Missense variant|non-coding transcript variant | rs2105476313 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4002+1G>T | Single nucleotide variant | Chr2:166009718 | Pathogenic/Likely pathogenic | Splice donor variant | rs1692153643 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) | Single nucleotide variant | Chr2:165992303 | Likely pathogenic | Missense variant|non-coding transcript variant | rs1064794766 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) | Single nucleotide variant | Chr2:165991774 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs780809852 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) | Single nucleotide variant | Chr2:165996038 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs372425457 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) | Single nucleotide variant | Chr2:165996047 | Pathogenic | Nonsense|non-coding transcript variant | rs139300715 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) | Single nucleotide variant | Chr2:166002533 | Pathogenic | Nonsense|non-coding transcript variant | rs794726784 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) | Microsatellite | Chr2:165991736 - 165991739 | Pathogenic | Frameshift variant|non-coding transcript variant | rs794726726 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) | Single nucleotide variant | Chr2:165992369 | Pathogenic | Nonsense|non-coding transcript variant | rs199727342 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) | Single nucleotide variant | Chr2:166002537 | Pathogenic | Nonsense|non-coding transcript variant | rs398123593 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg) | Single nucleotide variant | Chr2:166037853 | Pathogenic | Missense variant|non-coding transcript variant | rs1696618804 |
.Pediatric Neurology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research |
| NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro) | Single nucleotide variant | Chr2:166054680 | Pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs777631884 |
.Pediatric Neurology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research |
| NM_001165963.4(SCN1A):c.1171-1G>A | Single nucleotide variant | Chr2:166046977 | Pathogenic/Likely pathogenic | Splice acceptor variant | rs2468182873 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs) | Deletion | Chr2:166036433 - 166036439 | Likely pathogenic | Frameshift variant|non-coding transcript variant | rs2468080465 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) | Single nucleotide variant | Chr2:166045239 | Likely pathogenic | Nonsense|5 prime UTR variant|non-coding transcript variant | rs1553545740 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.2589+2dup | Duplication | Chr2:166039420 - 166039421 | Pathogenic/Likely pathogenic | Splice donor variant | rs2468112683 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) | Single nucleotide variant | Chr2:166047760 | Likely pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs2105868295 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) | Deletion | Chr2:166047664 | Pathogenic/Likely pathogenic | Frameshift variant|non-coding transcript variant|5 prime UTR variant | rs1698004184 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology .Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.36del (p.Asp12fs) | Deletion | Chr2:166073586 | Pathogenic | Frameshift variant|5 prime UTR variant|non-coding transcript variant | rs1684704927 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) | Single nucleotide variant | Chr2:166073380 | Conflicting classifications of pathogenicity | Missense variant|5 prime UTR variant|non-coding transcript variant | rs1684663181 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001165963.4(SCN1A):c.264+4_264+7del | Microsatellite | Chr2:166073351 - 166073354 | Pathogenic/Likely pathogenic | Splice donor variant | rs1574370981 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) | Single nucleotide variant | Chr2:166073486 | Uncertain significance | Missense variant|5 prime UTR variant|non-coding transcript variant | rs769582667 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) | Single nucleotide variant | Chr2:166036483 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs796052991 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) | Single nucleotide variant | Chr2:166039460 | Uncertain significance | Missense variant|non-coding transcript variant | rs561912072 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) | Single nucleotide variant | Chr2:166046870 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs796052973 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.602+1G>A | Single nucleotide variant | Chr2:166054637 | Pathogenic | Splice donor variant | rs794726827 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) | Single nucleotide variant | Chr2:166043878 | Pathogenic | Nonsense|5 prime UTR variant|non-coding transcript variant | rs794726778 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.2589+3A>T | Single nucleotide variant | Chr2:166039420 | Pathogenic | Intron variant | rs794726775 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) | Single nucleotide variant | Chr2:166043974 | Pathogenic | Nonsense|5 prime UTR variant|non-coding transcript variant | rs794726736 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) | Single nucleotide variant | Chr2:166042334 | Pathogenic | Nonsense|5 prime UTR variant|non-coding transcript variant | rs794726730 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) | Single nucleotide variant | Chr2:166038129 | Pathogenic | Nonsense|non-coding transcript variant | rs794726697 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) | Single nucleotide variant | Chr2:166037847 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs121918796 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) | Single nucleotide variant | Chr2:166058681 | Pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs121918734 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) | Single nucleotide variant | Chr2:166052866 | Pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs121917937 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) | Single nucleotide variant | Chr2:166052869 | Pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs121917984 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) | Single nucleotide variant | Chr2:166058651 | Pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs121917918 |
.Lifecell International Pvt. Ltd |
| NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) | Single nucleotide variant | Chr2:166058652 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs121917965 |
.Lifecell International Pvt. Ltd |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar