"non-lesional focal epilepsy"[Disease/phenotype] AND "Yale Center for - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344884	NM_005660.3(SLC35A2):c.910T>C (p.Ser304Pro)	SLC35A2 (S243P +3 more)	Single nucleotide variant (missense variant +1 more)	non-lesional focal epilepsy	GLikely pathogenic
Select item 1344582	NM_005660.3(SLC35A2):c.747_757dup (p.Ala253fs)	SLC35A2 (A192fs +3 more)	Duplication (frameshift variant +1 more)	non-lesional focal epilepsy	GLikely pathogenic
Select item 635117	NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs)	SLC35A2 (S240fs +3 more)	Microsatellite (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 1344885	NM_005660.3(SLC35A2):c.337_339dup (p.Leu113dup)	SLC35A2	Duplication (inframe_insertion)	non-lesional focal epilepsy	GLikely pathogenic
Select item 1344581	NM_005660.3(SLC35A2):c.164G>T (p.Arg55Leu)	SLC35A2 (R31L +3 more)	Single nucleotide variant (missense variant +1 more)	non-lesional focal epilepsy	GLikely pathogenic

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