"GeneDx"[submitter] AND "LEF1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 3370255	NM_016269.5(LEF1):c.1123A>T (p.Lys375Ter)	LEF1 (K279* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2581750	NM_016269.5(LEF1):c.913G>A (p.Ala305Thr)	LEF1 (A209T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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