"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC102724058"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93659	NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys)	LOC102724058, SCN1A (R1917C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 189912	NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)	LOC102724058, SCN1A (R1875* +5 more)	Single nucleotide variant (nonsense +1 more)	Severe myoclonic epilepsy in infancy +2 more	GPathogenic
Select item 189965	NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)	LOC102724058, SCN1A (L1828V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3380952	NM_001165963.4(SCN1A):c.5139C>G (p.Ser1713Arg)	LOC102724058, SCN1A (S1684R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 69406	NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)	LOC102724058, SCN1A (S1505L +5 more)	Single nucleotide variant (missense variant +1 more)	SCN1A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 12902	NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	LOC102724058, SCN1A (F1499L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1162931	NM_001165963.4(SCN1A):c.4342G>C (p.Glu1448Gln)	LOC102724058, SCN1A (E1419Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	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 2682752	NM_001165963.4(SCN1A):c.4002+2322A>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1048975	NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn)	LOC102724058, SCN1A (D1102N +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance