"GeneReviews"[submitter] AND "EFL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522584	NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)	EFL1 (R1095Q +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 522583	NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)	EFL1 (M882K +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GPathogenic