"Baylor Genetics"[submitter] AND "EML1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031421	NM_004434.3(EML1):c.1820+1G>C	EML1	Single nucleotide variant (splice donor variant)	Band heterotopia of brain	GPathogenic
Select item 1028240	NM_004434.3(EML1):c.1897C>T (p.Arg633Ter)	EML1 (R633* +3 more)	Single nucleotide variant (nonsense)	Band heterotopia of brain	GLikely pathogenic
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic

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