LEF1-AS1[gene] - ClinVar

	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 144334	GRCh38/hg38 4q25(chr4:108142667-108611794)x3	LEF1, LEF1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3118306	NM_016269.5(LEF1):c.91G>C (p.Asp31His)	LEF1, LEF1-AS1 (D31H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623984	NM_016269.5(LEF1):c.73C>T (p.Pro25Ser)	LEF1, LEF1-AS1 (P25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1319981	NM_016269.5(LEF1):c.66GAT[3] (p.Met23dup)	LEF1, LEF1-AS1	Microsatellite (inframe_insertion +1 more)	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	GPathogenic
Select item 2279310	NM_016269.5(LEF1):c.38G>A (p.Gly13Glu)	LEF1, LEF1-AS1 (G13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar