C3280415[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029256	NM_001330260.2(SCN8A):c.614+1G>A	SCN8A	Single nucleotide variant (splice donor variant)	Cognitive impairment with or without cerebellar ataxia	GUncertain significance
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 1031970	NM_001330260.2(SCN8A):c.676C>G (p.Arg226Gly)	SCN8A (R226G)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment with or without cerebellar ataxia	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 419568	NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val)	SCN8A (I240V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
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 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 833575	NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr)	SCN8A (A1235T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1031806	NM_001330260.2(SCN8A):c.3793T>C (p.Cys1265Arg)	SCN8A (C1265R)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	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 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 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 1029255	NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala)	SCN8A (T1921A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance