"Baylor Genetics"[submitter] AND "LOC102724058"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206885	NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)	LOC102724058, SCN1A (E1960G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 206882	NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu)	LOC102724058, SCN1A (K1925E +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 998292	NM_001165963.4(SCN1A):c.5425T>C (p.Tyr1809His)	LOC102724058, SCN1A (Y1780H +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 427075	NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)	LOC102724058, SCN1A (E1784Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 374394	NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)	LOC102724058, SCN1A (V1773A +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 68636	NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	LOC102724058, SCN1A (R1564C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 68550	NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)	LOC102724058, SCN1A (F1532S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 206837	NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	LOC102724058, SCN1A (S1505* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 425224	NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)	LOC102724058, SCN1A (A1499V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1027788	NM_001165963.4(SCN1A):c.4339-16T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 1027787	NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)	LOC102724058, SCN1A (W1423R +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GConflicting classifications of pathogenicity
Select item 206820	NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)	LOC102724058, SCN1A (E1377K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 689733	NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)	LOC102724058, SCN1A (N1350I +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GLikely pathogenic
Select item 530487	NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	LOC102724058, SCN1A (S1335P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1027786	NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)	LOC102724058, SCN1A (L1289P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 561103	NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu)	LOC102724058, SCN1A (P1160L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1031899	NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)	LOC102724058, SCN1A (S1140P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance