C0751122[trait identifier] AND "Lifecell International Pvt. Ltd"[submi - ClinVar

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Items: 34

	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)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 189881	NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	LOC102724058, SCN1A (K1032fs +5 more)	Microsatellite (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +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)	Severe myoclonic epilepsy in infancy +3 more	GConflicting classifications of pathogenicity
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)	not provided +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)	Severe myoclonic epilepsy in infancy	GUncertain significance
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)	Severe myoclonic epilepsy in infancy +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)	not provided +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 2430171	NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)	SCN1A (Q1001fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 206795	NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)	SCN1A (D987E +5 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 6B +3 more	GConflicting classifications of pathogenicity
Select item 68607	NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)	SCN1A (C948R +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 189844	NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	SCN1A (R854* +5 more)	Single nucleotide variant (nonsense +1 more)	Seizure +3 more	GPathogenic
Select item 2430163	NM_001165963.4(SCN1A):c.2589+2dup	SCN1A	Duplication (splice donor variant)	Severe myoclonic epilepsy in infancy +3 more	GLikely pathogenic
Select item 189938	NM_001165963.4(SCN1A):c.2589+3A>T	SCN1A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic
Select item 206783	NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser)	SCN1A (N840S +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +3 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)	not provided +6 more	GPathogenic
Select item 189941	NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	SCN1A (R612* +1 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 189892	NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	SCN1A (R580* +1 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic
Select item 2430164	NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)	SCN1A (L488* +1 more)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1164075	NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)	SCN1A (A474L +1 more)	Indel (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206761	NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)	SCN1A (Y426C)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +2 more	GPathogenic/Likely pathogenic
Select item 977923	NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)	SCN1A (L378fs)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 68579	NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	SCN1A (I227S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 68528	NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	SCN1A (R101Q)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic
Select item 68527	NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	SCN1A (R101W)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic/Likely pathogenic
Select item 68597	NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)	SCN1A (I91T)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 654352	NM_001165963.4(SCN1A):c.264+4_264+7del	SCN1A	Microsatellite (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 448247	NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys)	SCN1A (E46K)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +5 more	GUncertain significance

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Items: 34