C3281191[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374298	NM_014191.4(SCN8A):c.647T>G (p.Val216Gly)	SCN8A (V216G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 689732	NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)	SCN8A (R226G)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment with or without cerebellar ataxia +2 more	GLikely pathogenic
Select item 689734	NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)	SCN8A (V233I)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment with or without cerebellar ataxia +2 more	GLikely pathogenic
Select item 3238793	NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)	SCN8A (R226P)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 5 +3 more	GLikely pathogenic
Select item 1031804	NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)	SCN8A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 13	GUncertain significance
Select item 2580849	NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)	SCN8A (H559R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 208500	NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)	SCN8A (T767I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 135651	NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)	SCN8A (R850Q)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia +6 more	GPathogenic/Likely pathogenic
Select item 2582519	NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)	SCN8A (S979N)	Indel (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 1016014	NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)	SCN8A (N995K)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +4 more	GConflicting classifications of pathogenicity
Select item 1031805	NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu)	SCN8A (D1112E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2582310	NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)	SCN8A (S1320C +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GUncertain significance
Select item 523505	NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)	SCN8A (F1412S +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GConflicting classifications of pathogenicity
Select item 374375	NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser)	SCN8A (N1468S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1029253	NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg)	SCN8A (Q1429R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 3238817	NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys)	SCN8A (M1481K +1 more)	Single nucleotide variant (missense variant)	Myoclonus, familial, 2 +3 more	GLikely pathogenic
Select item 1031807	NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg)	SCN8A (L1725R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 2441961	NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)	SCN8A (F1728L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +4 more	GUncertain significance
Select item 253297	NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)	SCN8A (R1872Q +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database