"Athena Diagnostics Inc"[submitter] AND "SCN8A"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130253	NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	SCN8A	Single nucleotide variant (synonymous variant)	Myoclonus, familial, 2 +7 more	GBenign
Select item 139068	NM_001330260.2(SCN8A):c.928+9C>T	SCN8A	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 995250	NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val)	SCN8A (L503V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 139069	NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)	SCN8A (I700L)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +7 more	GBenign/Likely benign
Select item 130244	NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)	SCN8A (R1026C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 586525	NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=)	SCN8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 139072	NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)	SCN8A	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 13 +4 more	GBenign/Likely benign
Select item 253288	NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)	SCN8A (I1327V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 130246	NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)	SCN8A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 5 +7 more	GBenign/Likely benign
Select item 192318	NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	SCN8A (G1451S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 130247	NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 212136	NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)	SCN8A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 995251	NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu)	SCN8A (R1585L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130251	NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 639109	NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg)	SCN8A (K1853R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 207102	NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)	SCN8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 567363	NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His)	SCN8A (R1892H +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 196030	NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)	SCN8A	Microsatellite (no sequence alteration)	not specified +4 more	GBenign/Likely benign
Select item 448289	NM_001330260.2(SCN8A):c.*6A>T	SCN8A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance