"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC102724 - ClinVar

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Items: 36

	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)	SCN1A-related disorder +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)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 93660	NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)	LOC102724058, SCN1A (I1944T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 68574	NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)	LOC102724058, SCN1A (R1917G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +7 more	GBenign/Likely benign
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 specified +3 more	GUncertain significance
Select item 93657	NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 1581143	NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	SCN1A-related disorder +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)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 130207	NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206851	NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)	LOC102724058, SCN1A (M1608V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +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)	not provided +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)	SCN1A-related disorder +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 138982	NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)	LOC102724058, SCN1A (I1454V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 206825	NM_001165963.4(SCN1A):c.4338+5G>A	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257622	NM_001165963.4(SCN1A):c.4284+14A>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
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)	Early infantile epileptic encephalopathy with suppression bursts +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)	Early infantile epileptic encephalopathy with suppression bursts +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)	Early infantile epileptic encephalopathy with suppression bursts +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)	not provided +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)	not provided +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)	SCN1A-related disorder +2 more	GLikely benign
Select item 36754	NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 206728	NM_001165963.4(SCN1A):c.3705+10del	LOC102724058, SCN1A	Deletion (intron variant)	not specified +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)	Severe myoclonic epilepsy in infancy +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)	Early infantile epileptic encephalopathy with suppression bursts +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 36753	NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)	LOC102724058, SCN1A (A1056T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +5 more	GBenign
Select item 499658	NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)	LOC102724058, SCN1A (R1029S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	SCN1A-related disorder +4 more	GBenign/Likely benign

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Items: 36