ClinVar for MedGen (Select 148243) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24317861.	NM_001165963.4(SCN1A):c.1337del (p.Gln446fs) GRCh37: Chr2:166903320 GRCh38: Chr2:166046810	SCN1A	Q446fs	Severe myoclonic epilepsy in infancy	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 24317082.	NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys) GRCh37: Chr2:166898930 GRCh38: Chr2:166042420	SCN1A	T654K, T655K, T671K, T672K, T683K	Severe myoclonic epilepsy in infancy	Uncertain significance (Jan 6, 2023)	criteria provided, single submitter
Select item 24302623.	NM_001165963.4(SCN1A):c.603-3C>G GRCh37: Chr2:166909456 GRCh38: Chr2:166052946	SCN1A		Severe myoclonic epilepsy in infancy	Uncertain significance (Jan 10, 2023)	criteria provided, single submitter
Select item 24301814.	NM_001165963.4(SCN1A):c.4002+2543A>G GRCh37: Chr2:166863686 GRCh38: Chr2:166007176	SCN1A, LOC102724058		Severe myoclonic epilepsy in infancy	Uncertain significance (Feb 21, 2023)	criteria provided, single submitter
Select item 24301775.	NM_001165963.4(SCN1A):c.4002+2420G>A GRCh37: Chr2:166863809 GRCh38: Chr2:166007299	LOC102724058, SCN1A		Severe myoclonic epilepsy in infancy	Uncertain significance (Feb 21, 2023)	criteria provided, single submitter
Select item 24301716.	NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs) GRCh37: Chr2:166892943-166892949 GRCh38: Chr2:166036433-166036439	SCN1A	Q1001fs, Q1002fs, Q1013fs, Q199fs, Q984fs, Q985fs	Severe myoclonic epilepsy in infancy	Likely pathogenic	criteria provided, single submitter
Select item 24301647.	NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) GRCh37: Chr2:166901749 GRCh38: Chr2:166045239	SCN1A	L488, L489	Severe myoclonic epilepsy in infancy	Likely pathogenic	criteria provided, single submitter
Select item 24301638.	NM_001165963.4(SCN1A):c.2589+2dup GRCh37: Chr2:166895930-166895931 GRCh38: Chr2:166039420-166039421	SCN1A		Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B	Likely pathogenic	criteria provided, single submitter
Select item 24301149.	NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val) GRCh37: Chr2:166848627 GRCh38: Chr2:165992117	LOC102724058, SCN1A	I1691V, I1692V, I1708V, I1709V, I1720V, I906V	Severe myoclonic epilepsy in infancy	Uncertain significance	criteria provided, single submitter
Select item 241277210.	NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs) GRCh37: Chr2:166848508-166848512 GRCh38: Chr2:165991998-165992002	SCN1A, LOC102724058	N1729fs, N1758fs, N1746fs, N1730fs, N944fs, N1747fs	Severe myoclonic epilepsy in infancy	Uncertain significance (Jan 25, 2023)	criteria provided, single submitter
Select item 241268111.	NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly) GRCh37: Chr2:166894512 GRCh38: Chr2:166038002	SCN1A	V879G, V895G, V896G, V907G, V93G, V878G	Severe myoclonic epilepsy in infancy	Likely pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 219450212.	NM_001330723.2(SNX27):c.1390-12T>C GRCh37: Chr1:151665375 GRCh38: Chr1:151692899	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 219216413.	NM_001330723.2(SNX27):c.1149+18_1149+20del GRCh37: Chr1:151641125-151641127 GRCh38: Chr1:151668649-151668651	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218726814.	NM_001330723.2(SNX27):c.1216T>C (p.Tyr406His) GRCh37: Chr1:151655898 GRCh38: Chr1:151683422	SNX27	Y406H	Severe myoclonic epilepsy in infancy	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 217247715.	NM_001330723.2(SNX27):c.1578+94A>G GRCh37: Chr1:151666053 GRCh38: Chr1:151693577	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 217178016.	NM_001330723.2(SNX27):c.737-15_737-10del GRCh37: Chr1:151633254-151633259 GRCh38: Chr1:151660778-151660783	SNX27		Severe myoclonic epilepsy in infancy	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 217001817.	NM_001330723.2(SNX27):c.1145A>T (p.His382Leu) GRCh37: Chr1:151641107 GRCh38: Chr1:151668631	SNX27	H382L	Severe myoclonic epilepsy in infancy	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 215987418.	NM_001330723.2(SNX27):c.217G>A (p.Glu73Lys) GRCh37: Chr1:151584894 GRCh38: Chr1:151612418	SNX27	E73K	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 215364619.	NM_001330723.2(SNX27):c.543+19C>T GRCh37: Chr1:151611614 GRCh38: Chr1:151639138	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 214508920.	NM_001330723.2(SNX27):c.906+17C>T GRCh37: Chr1:151634763 GRCh38: Chr1:151662287	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 214407621.	NM_001330723.2(SNX27):c.1560G>A (p.Glu520_Leu521=) GRCh37: Chr1:151665941 GRCh38: Chr1:151693465	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 214205922.	NM_001330723.2(SNX27):c.1240-17_1240-3del GRCh37: Chr1:151664883-151664897 GRCh38: Chr1:151692407-151692421	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 213924723.	NM_001330723.2(SNX27):c.1240-16_1240-3del GRCh37: Chr1:151664883-151664896 GRCh38: Chr1:151692407-151692420	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 213354324.	NM_001330723.2(SNX27):c.1096G>A (p.Glu366Lys) GRCh37: Chr1:151641058 GRCh38: Chr1:151668582	SNX27	E366K	Severe myoclonic epilepsy in infancy	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 212696125.	NM_001330723.2(SNX27):c.1227A>G (p.Arg409_Lys410=) GRCh37: Chr1:151655909 GRCh38: Chr1:151683433	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212366826.	NM_001330723.2(SNX27):c.1290C>G (p.Pro430_His431=) GRCh37: Chr1:151664961 GRCh38: Chr1:151692485	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 212254427.	NM_001330723.2(SNX27):c.232C>T (p.Leu78_Gln79=) GRCh37: Chr1:151584909 GRCh38: Chr1:151612433	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212206928.	NM_001330723.2(SNX27):c.870G>A (p.Arg290_Val291=) GRCh37: Chr1:151634710 GRCh38: Chr1:151662234	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 210953029.	NM_001330723.2(SNX27):c.1389+16A>G GRCh37: Chr1:151665076 GRCh38: Chr1:151692600	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210612730.	NM_001330723.2(SNX27):c.1486A>C (p.Lys496Gln) GRCh37: Chr1:151665483 GRCh38: Chr1:151693007	SNX27	K496Q	Severe myoclonic epilepsy in infancy	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210383831.	NM_001330723.2(SNX27):c.737-4A>G GRCh37: Chr1:151633270 GRCh38: Chr1:151660794	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 210322532.	NM_001330723.2(SNX27):c.103G>A (p.Gly35Ser) GRCh37: Chr1:151584780 GRCh38: Chr1:151612304	SNX27	G35S	Severe myoclonic epilepsy in infancy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 210097433.	NM_001330723.2(SNX27):c.1209G>A (p.Gln403_Lys404=) GRCh37: Chr1:151655891 GRCh38: Chr1:151683415	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 209341934.	NM_001330723.2(SNX27):c.997G>C (p.Ala333Pro) GRCh37: Chr1:151640959 GRCh38: Chr1:151668483	SNX27	A333P	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 208218235.	NM_001330723.2(SNX27):c.988C>T (p.Arg330Cys) GRCh37: Chr1:151640950 GRCh38: Chr1:151668474	SNX27	R330C	Severe myoclonic epilepsy in infancy	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 207057336.	NM_001330723.2(SNX27):c.986-3T>C GRCh37: Chr1:151640945 GRCh38: Chr1:151668469	SNX27		Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 207022037.	NM_001330723.2(SNX27):c.70G>C (p.Gly24Arg) GRCh37: Chr1:151584747 GRCh38: Chr1:151612271	SNX27	G24R	Severe myoclonic epilepsy in infancy	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 206548638.	NM_001330723.2(SNX27):c.1240-14_1240-3del GRCh37: Chr1:151664883-151664894 GRCh38: Chr1:151692407-151692418	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 206435439.	NM_001330723.2(SNX27):c.844_846dup (p.Pro282_Asp283insPro) GRCh37: Chr1:151634682-151634683 GRCh38: Chr1:151662206-151662207	SNX27		Severe myoclonic epilepsy in infancy	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 206167640.	NM_001330723.2(SNX27):c.701C>T (p.Ala234Val) GRCh37: Chr1:151630868 GRCh38: Chr1:151658392	SNX27	A234V	Severe myoclonic epilepsy in infancy	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 205977441.	NM_001330723.2(SNX27):c.1313G>A (p.Arg438Lys) GRCh37: Chr1:151664984 GRCh38: Chr1:151692508	SNX27	R438K	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 205842042.	NM_001330723.2(SNX27):c.1150-13G>C GRCh37: Chr1:151655819 GRCh38: Chr1:151683343	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 205599743.	NM_001330723.2(SNX27):c.795C>T (p.Ser265_Asp266=) GRCh37: Chr1:151633332 GRCh38: Chr1:151660856	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 204960444.	NM_001330723.2(SNX27):c.1135T>C (p.Tyr379His) GRCh37: Chr1:151641097 GRCh38: Chr1:151668621	SNX27	Y379H	Severe myoclonic epilepsy in infancy	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 203924245.	NM_001330723.2(SNX27):c.908C>G (p.Ala303Gly) GRCh37: Chr1:151638410 GRCh38: Chr1:151665934	SNX27	A303G	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 202752646.	NM_001330723.2(SNX27):c.657C>T (p.Leu219_Pro220=) GRCh37: Chr1:151630824 GRCh38: Chr1:151658348	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 202417747.	NM_001330723.2(SNX27):c.369A>G (p.Ala123_Gly124=) GRCh37: Chr1:151611421 GRCh38: Chr1:151638945	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 202163148.	NM_001330723.2(SNX27):c.437G>C (p.Ser146Thr) GRCh37: Chr1:151611489 GRCh38: Chr1:151639013	SNX27	S146T	Severe myoclonic epilepsy in infancy	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 202104849.	NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter) GRCh37: Chr1:151665489 GRCh38: Chr1:151693013	SNX27	R498*	Severe myoclonic epilepsy in infancy	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 201322650.	NM_001330723.2(SNX27):c.27T>G (p.Ile9Met) GRCh37: Chr1:151584704 GRCh38: Chr1:151612228	SNX27	I9M	Severe myoclonic epilepsy in infancy	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 201261851.	NM_001330723.2(SNX27):c.544-14T>C GRCh37: Chr1:151630697 GRCh38: Chr1:151658221	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 200862652.	NM_001330723.2(SNX27):c.1005T>C (p.Asn335_Glu336=) GRCh37: Chr1:151640967 GRCh38: Chr1:151668491	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 200742753.	NM_001330723.2(SNX27):c.311+11G>A GRCh37: Chr1:151584999 GRCh38: Chr1:151612523	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 200732554.	NM_001330723.2(SNX27):c.882C>A (p.Asn294Lys) GRCh37: Chr1:151634722 GRCh38: Chr1:151662246	SNX27	N294K	Severe myoclonic epilepsy in infancy	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200255455.	NM_001330723.2(SNX27):c.721G>A (p.Glu241Lys) GRCh37: Chr1:151630888 GRCh38: Chr1:151658412	SNX27	E241K	Severe myoclonic epilepsy in infancy	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 199742656.	NM_001330723.2(SNX27):c.986-13G>A GRCh37: Chr1:151640935 GRCh38: Chr1:151668459	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 198064757.	NM_001330723.2(SNX27):c.1578+12C>T GRCh37: Chr1:151665971 GRCh38: Chr1:151693495	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 197719958.	NM_001330723.2(SNX27):c.304C>T (p.Leu102_Glu103=) GRCh37: Chr1:151584981 GRCh38: Chr1:151612505	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 197448659.	NM_001330723.2(SNX27):c.446C>T (p.Ser149Leu) GRCh37: Chr1:151611498 GRCh38: Chr1:151639022	SNX27	S149L	Severe myoclonic epilepsy in infancy	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 197197360.	NM_001330723.2(SNX27):c.726T>C (p.Tyr242_Leu243=) GRCh37: Chr1:151630893 GRCh38: Chr1:151658417	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 196987961.	NM_001330723.2(SNX27):c.311+20G>A GRCh37: Chr1:151585008 GRCh38: Chr1:151612532	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 196801062.	NM_001330723.2(SNX27):c.552T>C (p.Asn184_Val185=) GRCh37: Chr1:151630719 GRCh38: Chr1:151658243	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 196541363.	NM_001330723.2(SNX27):c.1145A>G (p.His382Arg) GRCh37: Chr1:151641107 GRCh38: Chr1:151668631	SNX27	H382R	Severe myoclonic epilepsy in infancy	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 196429264.	NM_001330723.2(SNX27):c.1443A>G (p.Glu481_Glu482=) GRCh37: Chr1:151665440 GRCh38: Chr1:151692964	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 195592265.	NM_001330723.2(SNX27):c.351G>C (p.Val117_Val118=) GRCh37: Chr1:151611403 GRCh38: Chr1:151638927	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 194903466.	NM_001330723.2(SNX27):c.1240-3del GRCh37: Chr1:151664883 GRCh38: Chr1:151692407	SNX27		Severe myoclonic epilepsy in infancy	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 193628667.	NM_001330723.2(SNX27):c.1574_1575del (p.Lys525fs) GRCh37: Chr1:151665953-151665954 GRCh38: Chr1:151693477-151693478	SNX27	K525fs	Severe myoclonic epilepsy in infancy	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 192899368.	NM_001330723.2(SNX27):c.16G>C (p.Gly6Arg) GRCh37: Chr1:151584693 GRCh38: Chr1:151612217	SNX27	G6R	Inborn genetic diseases, Severe myoclonic epilepsy in infancy	Uncertain significance (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192760269.	NM_001330723.2(SNX27):c.1119T>C (p.Asn373_Asp374=) GRCh37: Chr1:151641081 GRCh38: Chr1:151668605	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 189927570.	NM_001330723.2(SNX27):c.1150-14T>C GRCh37: Chr1:151655818 GRCh38: Chr1:151683342	SNX27		Severe myoclonic epilepsy in infancy	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 187865271.	NM_001165963.4(SCN1A):c.2167del (p.Thr723fs) GRCh37: Chr2:166898811 GRCh38: Chr2:166042301	SCN1A	T694fs, T695fs, T711fs, T712fs, T723fs	Severe myoclonic epilepsy in infancy	Likely pathogenic	criteria provided, single submitter
Select item 187858572.	NM_001165963.4(SCN1A):c.1223del (p.Phe408fs) GRCh37: Chr2:166903434 GRCh38: Chr2:166046924	SCN1A	F408fs	Severe myoclonic epilepsy in infancy	Likely pathogenic	criteria provided, single submitter
Select item 187858473.	NM_001165963.4(SCN1A):c.2589+1G>C GRCh37: Chr2:166895932 GRCh38: Chr2:166039422	SCN1A		Severe myoclonic epilepsy in infancy	Likely pathogenic	criteria provided, single submitter
Select item 187856674.	NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer) GRCh37: Chr2:166848865-166848884 GRCh38: Chr2:165992355-165992374	LOC102724058, SCN1A		Severe myoclonic epilepsy in infancy	Uncertain significance	criteria provided, single submitter
Select item 180500375.	NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter) GRCh37: Chr2:166868661 GRCh38: Chr2:166012151	LOC102724058, SCN1A	Y1250, Y1251, Y1267, Y1268, Y1279, Y465	Severe myoclonic epilepsy in infancy	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180404376.	NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter) GRCh37: Chr2:166858987 GRCh38: Chr2:166002477	LOC102724058, SCN1A	Q1398, Q1399, Q1415, Q1416, Q1427, Q613	Severe myoclonic epilepsy in infancy	Pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 180375277.	NM_001165963.4(SCN1A):c.4003-603T>C GRCh37: Chr2:166859866 GRCh38: Chr2:166003356	LOC102724058, SCN1A		Severe myoclonic epilepsy in infancy	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 180305778.	NM_001165963.4(SCN1A):c.4003-4T>G GRCh37: Chr2:166859267 GRCh38: Chr2:166002757	LOC102724058, SCN1A		Severe myoclonic epilepsy in infancy	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 180305479.	NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg) GRCh37: Chr2:166905418 GRCh38: Chr2:166048908	SCN1A	C336R	Severe myoclonic epilepsy in infancy	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 180225380.	NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs) GRCh37: Chr2:166852593 GRCh38: Chr2:165996083	LOC102724058, SCN1A	Q1475fs, Q1476fs, Q1492fs, Q1493fs, Q1504fs, Q690fs	Severe myoclonic epilepsy in infancy	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 180182181.	NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn) GRCh37: Chr2:166915149 GRCh38: Chr2:166058639	SCN1A	T105N	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 180148182.	NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His) GRCh37: Chr2:166848221 GRCh38: Chr2:165991711	LOC102724058, SCN1A	P1041H, P1826H, P1827H, P1843H, P1844H, P1855H	Severe myoclonic epilepsy in infancy	Pathogenic (Nov 20, 2022)	criteria provided, single submitter
Select item 171792083.	NM_001330723.2(SNX27):c.838G>A (p.Ala280Thr) GRCh37: Chr1:151634678 GRCh38: Chr1:151662202	SNX27	A280T	Severe myoclonic epilepsy in infancy	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 171720484.	NM_001330723.2(SNX27):c.1558G>A (p.Glu520Lys) GRCh37: Chr1:151665939 GRCh38: Chr1:151693463	SNX27	E520K	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 171580685.	NM_001330723.2(SNX27):c.548A>G (p.Tyr183Cys) GRCh37: Chr1:151630715 GRCh38: Chr1:151658239	SNX27	Y183C	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 171575686.	NM_001330723.2(SNX27):c.775C>A (p.Gln259Lys) GRCh37: Chr1:151633312 GRCh38: Chr1:151660836	SNX27	Q259K	Severe myoclonic epilepsy in infancy	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 171007287.	NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter) GRCh37: Chr2:166848812-166848813 GRCh38: Chr2:165992302-165992303	LOC102724058, SCN1A	T1629, T1630, T1646, T1647, T1658, T844	Severe myoclonic epilepsy in infancy	Likely pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 170947388.	NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln) GRCh37: Chr2:166848909 GRCh38: Chr2:165992399	LOC102724058, SCN1A	E1597Q, E1598Q, E1614Q, E1615Q, E1626Q, E812Q	Severe myoclonic epilepsy in infancy	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 170939789.	NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter) GRCh37: Chr2:166848608 GRCh38: Chr2:165992098	LOC102724058, SCN1A	W1697, W1698, W1714, W1715, W1726, W912	Severe myoclonic epilepsy in infancy, Early infantile epileptic encephalopathy with suppression bursts	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170925390.	NM_001165963.4(SCN1A):c.2815del (p.His939fs) GRCh37: Chr2:166894417 GRCh38: Chr2:166037907	SCN1A	H125fs, H910fs, H911fs, H927fs, H928fs, H939fs	Severe myoclonic epilepsy in infancy	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 170911991.	NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser) GRCh37: Chr2:166854564 GRCh38: Chr2:165998054	LOC102724058, SCN1A	N1458S, N1459S, N1475S, N1476S, N1487S, N673S	Severe myoclonic epilepsy in infancy	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 170583792.	NM_001165963.4(SCN1A):c.1377+1G>A GRCh37: Chr2:166903279 GRCh38: Chr2:166046769	SCN1A		Severe myoclonic epilepsy in infancy	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 170583693.	NM_001165963.4(SCN1A):c.1005del (p.Cys336fs) GRCh37: Chr2:166905419 GRCh38: Chr2:166048909	SCN1A	C336fs	Severe myoclonic epilepsy in infancy	Pathogenic (Aug 12, 2020)	criteria provided, single submitter
Select item 170583194.	NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs) GRCh37: Chr2:166894368-166894369 GRCh38: Chr2:166037858-166037859	SCN1A	T141fs, T926fs, T927fs, T943fs, T944fs, T955fs	Severe myoclonic epilepsy in infancy	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 170582995.	NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro) GRCh37: Chr2:166859088 GRCh38: Chr2:166002578	LOC102724058, SCN1A	H1364P, H1365P, H1381P, H1382P, H1393P, H579P	Severe myoclonic epilepsy in infancy	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 170582896.	NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe) GRCh37: Chr2:166894386 GRCh38: Chr2:166037876	SCN1A	C135F, C920F, C921F, C937F, C938F, C949F	Severe myoclonic epilepsy in infancy	Pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 170582797.	NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter) GRCh37: Chr2:166854644 GRCh38: Chr2:165998134	LOC102724058, SCN1A	Y1431, Y1432, Y1448, Y1449, Y1460, Y646	Severe myoclonic epilepsy in infancy	Pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 170582698.	NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser) GRCh37: Chr2:166854606 GRCh38: Chr2:165998096	LOC102724058, SCN1A	F1444S, F1445S, F1461S, F1462S, F1473S, F659S	Severe myoclonic epilepsy in infancy	Pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 170582599.	NM_001165963.4(SCN1A):c.3880-2_3880-1del GRCh37: Chr2:166866352-166866353 GRCh38: Chr2:166009842-166009843	LOC102724058, SCN1A		Severe myoclonic epilepsy in infancy	Pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 1705492100.	NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser) GRCh37: Chr2:166848491 GRCh38: Chr2:165991981	LOC102724058, SCN1A	F1736S, F1737S, F1753S, F1754S, F1765S, F951S	Severe myoclonic epilepsy in infancy	Pathogenic (Sep 1, 2022)	criteria provided, single submitter

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