"Institute of Human Genetics, Cologne University"[submitter] AND "SCN8 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584400	NM_001330260.2(SCN8A):c.2812A>T (p.Ile938Phe)	SCN8A (I938F)	Single nucleotide variant (missense variant)	Cognitive impairment with or without cerebellar ataxia	GLikely pathogenic
Select item 2501688	NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)	SCN8A (T1573N +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5	GLikely pathogenic