"SCN1A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93661	NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	LOC102724058, SCN1A (P1973H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 425223	NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile)	LOC102724058, SCN1A (M1948I +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 432633	NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln)	LOC102724058, SCN1A (E1867Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1581143	NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 2633676	NM_001165963.4(SCN1A):c.5075T>G (p.Phe1692Cys)	LOC102724058, SCN1A (F1663C +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder	GLikely pathogenic
Select item 3061392	NM_001165963.4(SCN1A):c.4942C>A (p.Arg1648Ser)	LOC102724058, SCN1A (R1619S +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder	GUncertain significance
Select item 379180	NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +3 more	GBenign/Likely benign
Select item 206851	NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)	LOC102724058, SCN1A (M1608V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 138985	NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1187175	NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg)	LOC102724058, SCN1A (K1488R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GUncertain significance
Select item 69406	NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)	LOC102724058, SCN1A (S1505L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GConflicting classifications of pathogenicity
Select item 206825	NM_001165963.4(SCN1A):c.4338+5G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	SCN1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 195577	NM_001165963.4(SCN1A):c.4284+7G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1627652	NM_001165963.4(SCN1A):c.4143T>G (p.Thr1381=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +1 more	GLikely benign
Select item 577950	NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe)	LOC102724058, SCN1A (V1342F +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 138980	NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +4 more	GBenign/Likely benign
Select item 68534	NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	LOC102724058, SCN1A (E1297D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 138979	NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 206807	NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)	LOC102724058, SCN1A (T1239M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 516615	NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 206728	NM_001165963.4(SCN1A):c.3705+10del	LOC102724058, SCN1A	Deletion (intron variant)	SCN1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2034846	NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)	LOC102724058, SCN1A (S1202I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 68616	NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	LOC102724058, SCN1A (T1163S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +11 more	GConflicting classifications of pathogenicity
Select item 384874	NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=)	LOC102724058, SCN1A	Single nucleotide variant (non-coding transcript variant +1 more)	SCN1A-related disorder +2 more	GLikely benign
Select item 1084100	NM_001165963.4(SCN1A):c.3408G>A (p.Ser1136=)	LOC102724058, SCN1A	Single nucleotide variant (non-coding transcript variant +1 more)	SCN1A-related disorder +1 more	GLikely benign
Select item 1684141	NM_001165963.4(SCN1A):c.3233A>C (p.Asp1078Ala)	LOC102724058, SCN1A (D1049A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 499658	NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)	LOC102724058, SCN1A (R1029S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	SCN1A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 68613	NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr)	LOC102724058, SCN1A (I1023T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2637111	NM_001165963.4(SCN1A):c.3055A>G (p.Met1019Val)	SCN1A (M1007V +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder	GUncertain significance
Select item 1218953	NM_001165963.4(SCN1A):c.2898C>T (p.Ala966=)	SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +1 more	GLikely benign
Select item 93642	NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)	SCN1A	Single nucleotide variant (synonymous variant +1 more)	Migraine, familial hemiplegic, 3 +7 more	GBenign/Likely benign
Select item 1122594	NM_001165963.4(SCN1A):c.2877T>C (p.Cys959=)	SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +1 more	GLikely benign
Select item 68598	NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	SCN1A (R920C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 189978	NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)	SCN1A (C916F +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GConflicting classifications of pathogenicity
Select item 206734	NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr)	SCN1A (A913T +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder +10 more	GLikely benign
Select item 93639	NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	SCN1A (R848H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 662644	NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu)	SCN1A (Q817L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2446562	NM_001165963.4(SCN1A):c.2293G>A (p.Val765Met)	SCN1A (V736M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 189886	NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	SCN1A (R701* +4 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GPathogenic
Select item 2633486	NM_001165963.4(SCN1A):c.1906C>T (p.Pro636Ser)	SCN1A (P635S +1 more)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder	GUncertain significance
Select item 2637204	NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)	SCN1A (G614R +1 more)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 68589	NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)	SCN1A (R604H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GBenign/Likely benign
Select item 189892	NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	SCN1A (R580* +1 more)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic
Select item 498892	NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)	SCN1A	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 68588	NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	SCN1A (R542Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 138974	NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=)	SCN1A	Single nucleotide variant (synonymous variant +2 more)	SCN1A-related disorder +3 more	GBenign/Likely benign
Select item 138973	NM_001165963.4(SCN1A):c.1378-3T>C	SCN1A	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 282973	NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)	SCN1A (V422M)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3052636	NM_001165963.4(SCN1A):c.1048_1049del (p.Met350fs)	SCN1A (M350fs)	Microsatellite (frameshift variant +2 more)	SCN1A-related disorder	GPathogenic
Select item 851618	NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter)	SCN1A (Y349*)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 378511	NM_001165963.4(SCN1A):c.1029-12C>T	SCN1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 378508	NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)	SCN1A	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 508691	NM_001165963.4(SCN1A):c.558T>C (p.Leu186=)	SCN1A	Single nucleotide variant (synonymous variant +2 more)	SCN1A-related disorder +2 more	GBenign/Likely benign
Select item 93648	NM_001165963.4(SCN1A):c.384-20G>C	SCN1A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 530611	NM_001165963.4(SCN1A):c.384-21T>A	SCN1A	Single nucleotide variant (intron variant)	SCN1A-related disorder +3 more	GLikely benign
Select item 2630549	NM_001165963.4(SCN1A):c.377T>A (p.Val126Glu)	SCN1A (V126E)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder +1 more	GUncertain significance
Select item 3061090	NM_001165963.4(SCN1A):c.265-2144A>G	SCN1A	Single nucleotide variant (intron variant)	SCN1A-related disorder	GLikely benign
Select item 2633577	NM_001165963.4(SCN1A):c.154A>G (p.Asn52Asp)	SCN1A (N52D)	Single nucleotide variant (missense variant +2 more)	SCN1A-related disorder	GUncertain significance

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Items: 58