"Molecular Genetics laboratory, Necker Hospital"[submitter] AND "EFTUD - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577992	NM_004247.4(EFTUD2):c.2133-1G>T	EFTUD2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2577926	NM_004247.4(EFTUD2):c.1149+5G>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2577990	NM_004247.4(EFTUD2):c.350+5G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic

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