C0751122[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68570	NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	LOC102724058, SCN1A (A1772T +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +5 more	GPathogenic
Select item 1705492	NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)	LOC102724058, SCN1A (F1736S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1526216	NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs)	LOC102724058, SCN1A (T1556fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1705422	NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)	LOC102724058, SCN1A (K1500* +5 more)	Single nucleotide variant (nonsense +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1705395	NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro)	LOC102724058, SCN1A (S1395P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1705490	NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys)	LOC102724058, SCN1A (F1386C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 838141	NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)	LOC102724058, SCN1A (V1321M +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 861493	NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)	SCN1A (L177F +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 12883	NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	SCN1A (T875M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 68592	NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)	SCN1A-AS1, SCN1A (R848C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 206762	NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)	SCN1A (T398M)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2572473	NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)	SCN1A (G396R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
Select item 68505	NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A (R393C)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GPathogenic
Select item 68502	NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)	SCN1A (R377Q)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 1705452	NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)	SCN1A (Q279*)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1071939	NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)	SCN1A (G271V)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 12889	NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SCN1A (R222*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability +6 more	GPathogenic/Likely pathogenic
Select item 982639	NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)	SCN1A (G210D)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GLikely pathogenic
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GPathogenic