"Ambry Genetics"[submitter] AND "LGI1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246254	NM_005097.4(LGI1):c.34G>A (p.Ala12Thr)	LGI1 (A12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260905	NM_005097.4(LGI1):c.43C>T (p.Pro15Ser)	LGI1 (P15S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 464750	NM_005097.4(LGI1):c.46C>G (p.Leu16Val)	LGI1 (L16V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 2322705	NM_005097.4(LGI1):c.53G>C (p.Arg18Thr)	LGI1 (R18T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1747298	NM_005097.4(LGI1):c.53G>A (p.Arg18Lys)	LGI1 (R18K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589057	NM_005097.4(LGI1):c.61T>C (p.Tyr21His)	LGI1 (Y21H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290539	NM_005097.4(LGI1):c.62A>G (p.Tyr21Cys)	LGI1 (Y21C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 389317	NM_005097.4(LGI1):c.132C>T (p.Ala44=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GLikely benign
Select item 206023	NM_005097.4(LGI1):c.191C>T (p.Thr64Ile)	LGI1 (T64I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +3 more	GUncertain significance
Select item 573957	NM_005097.4(LGI1):c.205G>A (p.Val69Ile)	LGI1 (V69I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GConflicting classifications of pathogenicity
Select item 588562	NM_005097.4(LGI1):c.270G>A (p.Thr90=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 206025	NM_005097.4(LGI1):c.272C>T (p.Pro91Leu)	LGI1 (P91L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2276604	NM_005097.4(LGI1):c.288G>T (p.Leu96Phe)	LGI1 (L96F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 533335	NM_005097.4(LGI1):c.299C>T (p.Ser100Leu)	LGI1 (S100L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 408589	NM_005097.4(LGI1):c.310G>A (p.Asp104Asn)	LGI1 (D104N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GConflicting classifications of pathogenicity
Select item 138112	NM_005097.4(LGI1):c.345A>G (p.Pro115=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +4 more	GConflicting classifications of pathogenicity
Select item 2249182	NM_005097.4(LGI1):c.390T>G (p.Ile130Met)	LGI1 (I130M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 464749	NM_005097.4(LGI1):c.398A>G (p.His133Arg)	LGI1 (H133R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 1285179	NM_005097.4(LGI1):c.432-6_432-5dup	LGI1	Duplication (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 587779	NM_005097.4(LGI1):c.432-5dup	LGI1	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2397703	NM_005097.4(LGI1):c.432-6_432-5del	LGI1	Deletion (intron variant)	Inborn genetic diseases	GLikely benign
Select item 588200	NM_005097.4(LGI1):c.432-5del	LGI1	Deletion (intron variant)	Inborn genetic diseases	GLikely benign
Select item 571017	NM_005097.4(LGI1):c.504-1G>T	LGI1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 877601	NM_005097.4(LGI1):c.568C>T (p.His190Tyr)	LGI1 (H190Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 206022	NM_005097.4(LGI1):c.600C>T (p.Cys200=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2476833	NM_005097.4(LGI1):c.602A>C (p.Glu201Ala)	LGI1 (E153A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1751374	NM_005097.4(LGI1):c.606C>T (p.Gly202=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 573459	NM_005097.4(LGI1):c.626G>A (p.Arg209His)	LGI1 (R209H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2276983	NM_005097.4(LGI1):c.673+2T>C	LGI1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1347464	NM_005097.4(LGI1):c.673+5T>C	LGI1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1524274	NM_005097.4(LGI1):c.680C>T (p.Ala227Val)	LGI1 (A179V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 138113	NM_005097.4(LGI1):c.717A>C (p.Ile239=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +4 more	GConflicting classifications of pathogenicity
Select item 1412976	NM_005097.4(LGI1):c.720C>A (p.Asp240Glu)	LGI1 (D192E +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 1758850	NM_005097.4(LGI1):c.741T>C (p.Asp247=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 206027	NM_005097.4(LGI1):c.812C>T (p.Thr271Ile)	LGI1 (T271I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GConflicting classifications of pathogenicity
Select item 408593	NM_005097.4(LGI1):c.837A>G (p.Thr279=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 3118514	NM_005097.4(LGI1):c.866T>C (p.Ile289Thr)	LGI1 (I241T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2558012	NM_005097.4(LGI1):c.869T>G (p.Val290Gly)	LGI1 (V242G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3118515	NM_005097.4(LGI1):c.872T>C (p.Ile291Thr)	LGI1 (I291T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 590196	NM_005097.4(LGI1):c.925T>A (p.Tyr309Asn)	LGI1 (Y309N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1739313	NM_005097.4(LGI1):c.1014C>T (p.Phe338=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3290540	NM_005097.4(LGI1):c.1030T>G (p.Trp344Gly)	LGI1 (W296G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 589940	NM_005097.4(LGI1):c.1075A>G (p.Ile359Val)	LGI1 (I359V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 596721	NM_005097.4(LGI1):c.1095C>T (p.Asn365=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features +2 more	GConflicting classifications of pathogenicity
Select item 845231	NM_005097.4(LGI1):c.1097G>C (p.Gly366Ala)	LGI1 (G318A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 841153	NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe)	LGI1 (S369F +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial temporal lobe, 1 +2 more	GUncertain significance
Select item 589198	NM_005097.4(LGI1):c.1122C>T (p.His374=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1675426	NM_005097.4(LGI1):c.1123G>A (p.Ala375Thr)	LGI1 (A327T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 863654	NM_005097.4(LGI1):c.1129T>C (p.Tyr377His)	LGI1 (Y377H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +2 more	GUncertain significance
Select item 138115	NM_005097.4(LGI1):c.1155A>C (p.Leu385=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, familial temporal lobe, 1 +3 more	GConflicting classifications of pathogenicity
Select item 3290541	NM_005097.4(LGI1):c.1166G>C (p.Arg389Thr)	LGI1 (R341T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2237730	NM_005097.4(LGI1):c.1169C>T (p.Thr390Ile)	LGI1 (T342I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2543549	NM_005097.4(LGI1):c.1172C>T (p.Pro391Leu)	LGI1 (P391L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1413715	NM_005097.4(LGI1):c.1219C>G (p.Arg407Gly)	LGI1 (R407G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 464743	NM_005097.4(LGI1):c.1220G>A (p.Arg407His)	LGI1 (R407H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 639356	NM_005097.4(LGI1):c.1290G>A (p.Glu430=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GLikely benign
Select item 569365	NM_005097.4(LGI1):c.1318G>A (p.Val440Met)	LGI1 (V440M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364558	NM_005097.4(LGI1):c.1368A>G (p.Lys456=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GLikely benign
Select item 852275	NM_005097.4(LGI1):c.1391C>T (p.Ser464Leu)	LGI1 (S416L +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 301660	NM_005097.4(LGI1):c.1392G>A (p.Ser464=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features +2 more	GConflicting classifications of pathogenicity
Select item 464746	NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs)	LGI1 (Q480fs +1 more)	Deletion (frameshift variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1486020	NM_005097.4(LGI1):c.1459T>C (p.Tyr487His)	LGI1 (Y487H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 567103	NM_005097.4(LGI1):c.1471A>G (p.Ile491Val)	LGI1 (I491V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 509328	NM_005097.4(LGI1):c.1578A>C (p.Thr526=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features +2 more	GLikely benign
Select item 415037	NM_005097.4(LGI1):c.1668C>T (p.Ser556=)	LGI1	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal dominant epilepsy with auditory features +2 more	GLikely benign

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Items: 65