LEF1[gene] - ClinVar

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Items: 43

	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 3290427	NM_016269.5(LEF1):c.1169C>G (p.Thr390Arg)	LEF1 (T390R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118303	NM_016269.5(LEF1):c.1142A>G (p.Glu381Gly)	LEF1 (E285G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1322007	NM_016269.5(LEF1):c.1042TAT[1] (p.Tyr349del)	LEF1 (Y253del +2 more)	Microsatellite (inframe_deletion)	Ectrodactyly	GPathogenic
Select item 2206051	NM_016269.5(LEF1):c.952G>A (p.Val318Ile)	LEF1 (V318I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1322009	NM_016269.5(LEF1):c.928A>G (p.Met310Val)	LEF1 (M214V +2 more)	Single nucleotide variant (missense variant)	Abnormal radial ray morphology	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
Select item 2614068	NM_016269.5(LEF1):c.887G>A (p.Arg296Lys)	LEF1 (R296K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054641	NM_016269.5(LEF1):c.845+14C>T	LEF1	Single nucleotide variant (intron variant)	LEF1-related disorder	GLikely benign
Select item 2264673	NM_016269.5(LEF1):c.826G>A (p.Asp276Asn)	LEF1 (D248N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291597	NM_016269.5(LEF1):c.766A>G (p.Thr256Ala)	LEF1 (T228A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118305	NM_016269.5(LEF1):c.746G>A (p.Gly249Asp)	LEF1 (G221D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224297	NM_016269.5(LEF1):c.745G>A (p.Gly249Ser)	LEF1 (G153S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514557	NM_016269.5(LEF1):c.602C>T (p.Pro201Leu)	LEF1 (P133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526773	NM_016269.5(LEF1):c.597G>T (p.Leu199Phe)	LEF1 (L131F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049799	NM_016269.5(LEF1):c.584C>G (p.Thr195Ser)	LEF1 (T127S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739485	NM_016269.5(LEF1):c.548-6T>G	LEF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1322008	NM_016269.5(LEF1):c.544del (p.Gln182fs)	LEF1 (Q114fs +1 more)	Deletion (frameshift variant)	Ectrodactyly	GPathogenic
Select item 2301976	NM_016269.5(LEF1):c.530A>T (p.Asp177Val)	LEF1 (D109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290424	NM_016269.5(LEF1):c.433G>T (p.Val145Leu)	LEF1 (V77L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144334	GRCh38/hg38 4q25(chr4:108142667-108611794)x3	LEF1, LEF1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 3290425	NM_016269.5(LEF1):c.413C>T (p.Thr138Ile)	LEF1 (T70I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236419	NM_016269.5(LEF1):c.374A>G (p.Tyr125Cys)	LEF1 (Y57C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352595	NM_016269.5(LEF1):c.343A>C (p.Ile115Leu)	LEF1 (I47L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783383	NM_016269.5(LEF1):c.327G>A (p.Ser109=)	LEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3118304	NM_016269.5(LEF1):c.305A>G (p.Tyr102Cys)	LEF1 (Y34C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773869	NM_016269.5(LEF1):c.253G>A (p.Asp85Asn)	LEF1 (D85N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 684559	Single allele	CYP2U1, HADH +3 more	Duplication	not provided	Gnot provided
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 43