ClinVar for MedGen (Select 148243) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3777040	NM_001165963.4(SCN1A):c.472_473+2del	SCN1A	Deletion (splice donor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3776229	NM_001165963.4(SCN1A):c.2931_2932insGTTTCGGTG (p.Val977_Ile978insValSerVal)	SCN1A	Insertion (inframe_insertion +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3776159	NM_001165963.4(SCN1A):c.2470C>G (p.Pro824Ala)	SCN1A (P10A +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3775611	NM_001165963.4(SCN1A):c.3307A>G (p.Met1103Val)	LOC102724058, SCN1A (M1074V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3775523	NM_001165963.4(SCN1A):c.5243del (p.Pro1748fs)	LOC102724058, SCN1A (P1719fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3775455	NM_001165963.4(SCN1A):c.287G>T (p.Gly96Val)	SCN1A (G96V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3775405	NM_001165963.4(SCN1A):c.332T>A (p.Leu111Ter)	SCN1A (L111*)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3775374	NM_001165963.4(SCN1A):c.238C>A (p.Leu80Met)	SCN1A (L80M)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3775239	NM_001165963.4(SCN1A):c.4003-2A>G	LOC102724058, SCN1A	Single nucleotide variant (splice acceptor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3770211	NM_001165963.4(SCN1A):c.5116_5117del (p.Asn1706fs)	LOC102724058, SCN1A (N1677fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GLikely pathogenic
Select item 3770210	NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)	LOC102724058, SCN1A (P1497T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GLikely pathogenic
Select item 3770209	NM_001165963.4(SCN1A):c.3076del (p.Tyr1025_Val1026insTer)	SCN1A	Deletion (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic
Select item 3770207	NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)	SCN1A (P346Q)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GLikely pathogenic
Select item 3731475	NM_001165963.4(SCN1A):c.4712C>T (p.Thr1571Ile)	LOC102724058, SCN1A (T1542I +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +1 more	GUncertain significance
Select item 3727996	NM_001330723.2(SNX27):c.601G>A (p.Ala201Thr)	SNX27 (A201T)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3727995	NM_001330723.2(SNX27):c.478A>G (p.Lys160Glu)	SNX27 (K160E)	Single nucleotide variant (missense variant)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3726469	NM_001330723.2(SNX27):c.556del (p.Tyr186fs)	SNX27 (Y186fs)	Deletion (frameshift variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3718531	NM_001330723.2(SNX27):c.624G>A (p.Lys208=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3716956	NM_001330723.2(SNX27):c.985+8C>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3714675	NM_001330723.2(SNX27):c.339A>C (p.Thr113=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3708082	NM_001330723.2(SNX27):c.1519-18C>T	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3705343	NM_001330723.2(SNX27):c.102C>T (p.Gly34=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3704088	NM_001330723.2(SNX27):c.801+20A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3695516	NM_001330723.2(SNX27):c.172C>A (p.Arg58=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3684542	NM_001330723.2(SNX27):c.312-4T>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3660945	NM_001330723.2(SNX27):c.544-4C>A	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3658784	NM_001330723.2(SNX27):c.1240-2A>G	SNX27	Single nucleotide variant (splice acceptor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3655118	NM_001330723.2(SNX27):c.1566G>A (p.Lys522=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3654498	NM_001330723.2(SNX27):c.906+16A>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3651247	NM_001330723.2(SNX27):c.57T>C (p.Gly19=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3647127	NM_001330723.2(SNX27):c.994T>C (p.Leu332=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3632205	NM_001330723.2(SNX27):c.378G>A (p.Lys126=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3631101	NM_001330723.2(SNX27):c.1149+15C>G	SNX27	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3615789	NM_001330723.2(SNX27):c.715T>C (p.Leu239=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 3602575	NM_001165963.4(SCN1A):c.2415+3A>G	SCN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GUncertain significance
Select item 3600396	NM_001165963.4(SCN1A):c.2483_2484del (p.Phe828fs)	SCN1A (F14fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
Select item 3572984	NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)	LOC102724058, SCN1A (Q1100P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3572879	NM_001165963.4(SCN1A):c.5080T>C (p.Tyr1694His)	LOC102724058, SCN1A (Y880H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3391344	NM_001165963.4(SCN1A):c.2945T>C (p.Val982Ala)	SCN1A (V168A +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3382916	NM_001165963.4(SCN1A):c.720_740del (p.Ile241_Leu247del)	SCN1A	Deletion (inframe_deletion +2 more)	Migraine, familial hemiplegic, 3 +3 more	GUncertain significance
Select item 3382780	NM_001165963.4(SCN1A):c.3670A>T (p.Ile1224Phe)	LOC102724058, SCN1A (I1195F +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +3 more	GUncertain significance
Select item 3382728	NM_001165963.4(SCN1A):c.1134_1140del (p.Met379fs)	SCN1A (M379fs)	Deletion (frameshift variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3382607	NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)	SCN1A (M758K +4 more)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GLikely pathogenic
Select item 3382428	NM_001165963.4(SCN1A):c.5316del (p.Ser1773fs)	LOC102724058, SCN1A (S1744fs +5 more)	Deletion (frameshift variant +1 more)	Migraine, familial hemiplegic, 3 +3 more	GLikely pathogenic
Select item 3377029	NM_001165963.4(SCN1A):c.5602_5603insATCC (p.Leu1868fs)	LOC102724058, SCN1A (L1054fs +5 more)	Insertion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3376494	NM_001165963.4(SCN1A):c.1973C>T (p.Ser658Leu)	SCN1A (S657L +1 more)	Single nucleotide variant (missense variant +3 more)	Migraine, familial hemiplegic, 3 +3 more	GUncertain significance
Select item 3370353	NM_001165963.4(SCN1A):c.4117T>A (p.Phe1373Ile)	LOC102724058, SCN1A (F1344I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3367060	NM_001165963.4(SCN1A):c.383+2T>C	SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3363145	NM_001165963.4(SCN1A):c.1353_1354dup (p.Lys452fs)	SCN1A (K452fs)	Duplication (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3362407	NM_001165963.4(SCN1A):c.3091T>C (p.Tyr1031His)	LOC102724058, SCN1A (Y1002H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3362347	NM_001165963.4(SCN1A):c.5573G>T (p.Ser1858Ile)	SCN1A (S1044I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3358981	NM_001165963.4(SCN1A):c.3430-1552_3481del	SCN1A	Deletion (splice acceptor variant)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3338043	NM_001165963.4(SCN1A):c.2879dup (p.Met960fs)	SCN1A (M146fs +5 more)	Duplication (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3336690	GRCh38/hg38 2q24.3(chr2:165991235-166002763)x1	LOC102724058, SCN1A	Copy number loss	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3255527	NM_001165963.4(SCN1A):c.2808C>G (p.Asp936Glu)	SCN1A (D122E +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3255526	NM_001165963.4(SCN1A):c.384-2A>G	SCN1A	Single nucleotide variant (splice acceptor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3255525	NM_001165963.4(SCN1A):c.4279C>A (p.Gln1427Lys)	LOC102724058, SCN1A (Q1398K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3255524	NM_001165963.4(SCN1A):c.4852_4852+14del	LOC102724058, SCN1A	Deletion (splice donor variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3247711	NC_000001.10:g.(?_151314662)_(151666077_?)del	CGN, POGZ +5 more	Deletion	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3242429	NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)	SCN1A (W143R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3242428	NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)	SCN1A (R187P)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3242418	NM_001165963.4(SCN1A):c.5511del (p.Pro1838fs)	LOC102724058, SCN1A (P1024fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenicFDA Recognized database
Select item 3242014	NM_001165963.4(SCN1A):c.3094G>A (p.Glu1032Lys)	SCN1A, LOC102724058 (E1003K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3236143	NM_001165963.4(SCN1A):c.1108T>A (p.Trp370Arg)	SCN1A (W370R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3233400	NM_001165963.4(SCN1A):c.695_696delinsCG (p.Gly232Ala)	SCN1A (G232A)	Indel (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3068116	NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)	SCN1A (Q381R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3067895	NM_001165963.4(SCN1A):c.412A>G (p.Ile138Val)	SCN1A (I138V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3067173	NM_001165963.4(SCN1A):c.234G>C (p.Glu78Asp)	SCN1A (E78D)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067167	NM_001165963.4(SCN1A):c.3610T>A (p.Trp1204Arg)	LOC102724058, SCN1A (W1175R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067166	NM_001165963.4(SCN1A):c.4759G>A (p.Glu1587Lys)	LOC102724058, SCN1A (E1558K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067165	NM_001165963.4(SCN1A):c.2423C>G (p.Thr808Ser)	SCN1A (T779S +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067164	NM_001165963.4(SCN1A):c.5768A>G (p.Gln1923Arg)	LOC102724058, SCN1A (Q1109R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067163	NM_001165963.4(SCN1A):c.777C>G (p.Ser259Arg)	SCN1A (S259R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067162	NM_001165963.4(SCN1A):c.2593C>G (p.Arg865Gly)	SCN1A (R51G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067161	NM_001165963.4(SCN1A):c.5779A>G (p.Arg1927Gly)	LOC102724058, SCN1A (R1113G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067160	NM_001165963.4(SCN1A):c.4467G>T (p.Gln1489His)	LOC102724058, SCN1A (Q1460H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067159	NM_001165963.4(SCN1A):c.2726T>A (p.Met909Lys)	SCN1A (M880K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067158	NM_001165963.4(SCN1A):c.4498A>G (p.Met1500Val)	LOC102724058, SCN1A (M1471V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3067157	NM_001165963.4(SCN1A):c.3801G>C (p.Met1267Ile)	LOC102724058, SCN1A (M1238I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067156	NM_001165963.4(SCN1A):c.5009T>G (p.Leu1670Trp)	LOC102724058, SCN1A (L1641W +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067155	NM_001165963.4(SCN1A):c.4946_4947delinsAA (p.Leu1649Gln)	LOC102724058, SCN1A (L1620Q +5 more)	Indel (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067154	NM_001165963.4(SCN1A):c.706A>G (p.Ile236Val)	SCN1A (I236V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067153	NM_001165963.4(SCN1A):c.4494C>G (p.Ile1498Met)	LOC102724058, SCN1A (I1469M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067152	NM_001165963.4(SCN1A):c.530G>C (p.Gly177Ala)	SCN1A (G177A)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067151	NM_001165963.4(SCN1A):c.5354T>G (p.Ile1785Ser)	LOC102724058, SCN1A (I1756S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067147	NM_001165963.4(SCN1A):c.4981T>C (p.Phe1661Leu)	LOC102724058, SCN1A (F1632L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3067140	NM_001165963.4(SCN1A):c.4243T>A (p.Phe1415Ile)	LOC102724058, SCN1A (F1386I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	Gnot provided
Select item 3065909	NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)	LOC102724058, SCN1A (A1695P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3065907	NM_001165963.4(SCN1A):c.3290T>G (p.Ile1097Ser)	LOC102724058, SCN1A (I1068S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 3065501	NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)	LOC102724058, SCN1A (F1194C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064852	NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)	SCN1A (T146K)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064538	NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)	SCN1A (F782S +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064506	NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)	LOC102724058, SCN1A (Q1137fs +5 more)	Deletion (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 3064140	NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)	SCN1A	Indel (inframe_indel +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3024319	NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)	SCN1A (Q429K)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3024230	NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)	SCN1A (D81N)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic
Select item 3017429	NM_001330723.2(SNX27):c.1167G>A (p.Lys389=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2994336	NM_001330723.2(SNX27):c.87C>T (p.His29=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2983825	NM_001330723.2(SNX27):c.864A>G (p.Thr288=)	SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign
Select item 2981159	NM_001330723.2(SNX27):c.129C>T (p.Val43=)	LOC129931442, SNX27	Single nucleotide variant (synonymous variant)	Severe myoclonic epilepsy in infancy	GLikely benign

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