"Lifecell International Pvt. Ltd"[submitter] AND "LOC102724058"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180554	NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His)	LOC102724058, SCN1A (R1114H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GUncertain significance
Select item 1174162	NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs)	LOC102724058, SCN1A (V1061fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 189881	NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	LOC102724058, SCN1A (K1032fs +5 more)	Microsatellite (frameshift variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GPathogenic
Select item 206867	NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)	LOC102724058, SCN1A (A1823V +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +3 more	GConflicting classifications of pathogenicity
Select item 2430160	NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)	LOC102724058, SCN1A (V1738F +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2430114	NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val)	LOC102724058, SCN1A (I1691V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 420883	NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)	LOC102724058, SCN1A (T1647P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GLikely pathogenic
Select item 189870	NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	LOC102724058, SCN1A (R1625* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 1174591	NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser)	LOC102724058, SCN1A (P1495S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 206839	NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)	LOC102724058, SCN1A (P1508L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1174587	NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)	LOC102724058, SCN1A (N1447T +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76 +1 more	GConflicting classifications of pathogenicity
Select item 2501293	NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)	LOC102724058, SCN1A (S1442C +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GConflicting classifications of pathogenicity
Select item 1174163	NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)	LOC102724058, SCN1A (F1437L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 189947	NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)	LOC102724058, SCN1A (W1397* +5 more)	Single nucleotide variant (nonsense +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic
Select item 93649	NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	LOC102724058, SCN1A (R1396* +5 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 975944	NM_001165963.4(SCN1A):c.4002+1G>T	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2430161	NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)	LOC102724058, SCN1A (M1304I +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 2430162	NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)	LOC102724058, SCN1A (L1236M +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B	GLikely pathogenic
Select item 566881	NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr)	LOC102724058, SCN1A (S1141T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance