"GeneDx"[submitter] AND "LGI1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 1211345	NC_000010.11:g.93757739C>T	LGI1	Single nucleotide variant	not provided	GLikely benign
Select item 506416	NM_005097.4(LGI1):c.-33C>T	LGI1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 415035	NM_005097.4(LGI1):c.1A>G (p.Met1Val)	LGI1 (M1V)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1203794	NM_005097.4(LGI1):c.69A>G (p.Leu23=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1313538	NM_005097.4(LGI1):c.79T>C (p.Ser27Pro)	LGI1 (S27P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303793	NM_005097.4(LGI1):c.86T>C (p.Leu29Pro)	LGI1 (L29P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1076005	NM_005097.4(LGI1):c.108del (p.Lys36fs)	LGI1 (K36fs)	Deletion (frameshift variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GPathogenic/Likely pathogenic
Select item 844479	NM_005097.4(LGI1):c.113C>G (p.Ala38Gly)	LGI1 (A38G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	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 1364542	NM_005097.4(LGI1):c.133G>A (p.Val45Met)	LGI1 (V45M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
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 2582016	NM_005097.4(LGI1):c.216-4T>G	LGI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 206024	NM_005097.4(LGI1):c.269C>T (p.Thr90Met)	LGI1 (T90M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
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 669726	NM_005097.4(LGI1):c.287+287A>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683060	NM_005097.4(LGI1):c.288-242A>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 206026	NM_005097.4(LGI1):c.294C>A (p.Phe98Leu)	LGI1 (F98L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284900	NM_005097.4(LGI1):c.297A>G (p.Thr99=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1202118	NM_005097.4(LGI1):c.329del (p.Ala110fs)	LGI1 (A110fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 452032	NM_005097.4(LGI1):c.343C>T (p.Pro115Ser)	LGI1 (P115S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011420	NM_005097.4(LGI1):c.344C>T (p.Pro115Leu)	LGI1 (P115L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
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 2136084	NM_005097.4(LGI1):c.347A>G (p.His116Arg)	LGI1 (H116R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373416	NM_005097.4(LGI1):c.359+5G>A	LGI1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 421745	NM_005097.4(LGI1):c.359+14_359+15delinsA	LGI1	Indel (intron variant)	not specified	GLikely benign
Select item 516150	NM_005097.4(LGI1):c.360-7A>G	LGI1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 450729	NM_005097.4(LGI1):c.388del (p.Ile130fs)	LGI1 (I130fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3370774	NM_005097.4(LGI1):c.396A>T (p.Arg132Ser)	LGI1 (R132S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5438	NM_005097.4(LGI1):c.406C>T (p.Arg136Trp)	LGI1 (R136W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 547865	NM_005097.4(LGI1):c.407G>A (p.Arg136Gln)	LGI1 (R136Q)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial temporal lobe, 1 +1 more	GUncertain significance
Select item 2506829	NM_005097.4(LGI1):c.429C>G (p.His143Gln)	LGI1 (H143Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5436	NM_005097.4(LGI1):c.431+1G>A	LGI1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 683030	NM_005097.4(LGI1):c.431+213C>T	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194138	NM_005097.4(LGI1):c.431+249G>C	LGI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684055	NM_005097.4(LGI1):c.432-261C>A	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683031	NM_005097.4(LGI1):c.432-185A>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193418	NM_005097.4(LGI1):c.432-123dup	LGI1	Duplication (intron variant)	not provided	GLikely benign
Select item 1285179	NM_005097.4(LGI1):c.432-6_432-5dup	LGI1	Duplication (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 1252342	NM_005097.4(LGI1):c.432-7_432-5dup	LGI1	Duplication (intron variant)	not provided	GBenign
Select item 587779	NM_005097.4(LGI1):c.432-5dup	LGI1	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 936250	NM_005097.4(LGI1):c.460C>A (p.Leu154Ile)	LGI1 (L154I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 388845	NM_005097.4(LGI1):c.498A>C (p.Thr166=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1290848	NM_005097.4(LGI1):c.503+43A>T	LGI1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1291524	NM_005097.4(LGI1):c.503+44G>C	LGI1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1233601	NM_005097.4(LGI1):c.503+99T>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675917	NM_005097.4(LGI1):c.504-100C>T	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298167	NM_005097.4(LGI1):c.504-25A>G	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 206021	NM_005097.4(LGI1):c.504-20A>G	LGI1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1254312	NM_005097.4(LGI1):c.547T>C (p.Trp183Arg)	LGI1 (W135R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310850	NM_005097.4(LGI1):c.577G>A (p.Ala193Thr)	LGI1 (A145T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253497	NM_005097.4(LGI1):c.592A>T (p.Ile198Phe)	LGI1 (I150F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1303644	NM_005097.4(LGI1):c.601G>A (p.Glu201Lys)	LGI1 (E153K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 1342752	NM_005097.4(LGI1):c.611dup (p.Glu205fs)	LGI1 (E157fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2574458	NM_005097.4(LGI1):c.610C>T (p.Pro204Ser)	LGI1 (P156S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573798	NM_005097.4(LGI1):c.611C>G (p.Pro204Arg)	LGI1 (P156R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 577122	NM_005097.4(LGI1):c.625C>T (p.Arg209Cys)	LGI1 (R209C +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 507118	NM_005097.4(LGI1):c.673+15A>G	LGI1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 673178	NM_005097.4(LGI1):c.674-80G>T	LGI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280745	NM_005097.4(LGI1):c.674-18T>C	LGI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1024011	NM_005097.4(LGI1):c.726T>G (p.Phe242Leu)	LGI1 (F194L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 1723487	NM_005097.4(LGI1):c.742G>A (p.Glu248Lys)	LGI1 (E200K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801926	NM_005097.4(LGI1):c.744G>C (p.Glu248Asp)	LGI1 (E200D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138114	NM_005097.4(LGI1):c.744G>A (p.Glu248=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +2 more	GBenign/Likely benign
Select item 2446570	NM_005097.4(LGI1):c.754A>G (p.Ile252Val)	LGI1 (I204V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383335	NM_005097.4(LGI1):c.756C>T (p.Ile252=)	LGI1	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GLikely benign
Select item 952849	NM_005097.4(LGI1):c.757G>A (p.Ala253Thr)	LGI1 (A205T +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 373359	NM_005097.4(LGI1):c.838+3A>G	LGI1	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy with auditory features +1 more	GConflicting classifications of pathogenicity
Select item 3252683	NM_005097.4(LGI1):c.893T>C (p.Ile298Thr)	LGI1 (I250T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3343422	NM_005097.4(LGI1):c.898G>A (p.Ala300Thr)	LGI1 (A252T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 265352	NM_005097.4(LGI1):c.931C>T (p.Arg311Ter)	LGI1 (R311* +1 more)	Single nucleotide variant (nonsense +2 more)	Seizure +1 more	GLikely pathogenic
Select item 944930	NM_005097.4(LGI1):c.1060G>T (p.Ala354Ser)	LGI1 (A354S +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 1198789	NM_005097.4(LGI1):c.1062T>G (p.Ala354=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GBenign/Likely benign
Select item 1946050	NM_005097.4(LGI1):c.1064G>C (p.Gly355Ala)	LGI1 (G355A +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
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 206028	NM_005097.4(LGI1):c.1106C>G (p.Ser369Cys)	LGI1 (S369C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 206029	NM_005097.4(LGI1):c.1108C>T (p.His370Tyr)	LGI1 (H370Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2575844	NM_005097.4(LGI1):c.1130A>C (p.Tyr377Ser)	LGI1 (Y329S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 386441	NM_005097.4(LGI1):c.1164C>T (p.Val388=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 507228	NM_005097.4(LGI1):c.1170A>G (p.Thr390=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 1254177	NM_005097.4(LGI1):c.1187C>T (p.Thr396Met)	LGI1 (T348M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 579928	NM_005097.4(LGI1):c.1210A>T (p.Ser404Cys)	LGI1 (S404C +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +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 206030	NM_005097.4(LGI1):c.1274A>C (p.Asp425Ala)	LGI1 (D425A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 206031	NM_005097.4(LGI1):c.1300G>A (p.Ala434Thr)	LGI1 (A434T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GUncertain significance
Select item 2579986	NM_005097.4(LGI1):c.1336A>G (p.Ile446Val)	LGI1 (I398V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 301659	NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu)	LGI1 (I446L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 432849	NM_005097.4(LGI1):c.1397A>G (p.Gln466Arg)	LGI1 (Q466R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 423802	NM_005097.4(LGI1):c.1406A>G (p.Gln469Arg)	LGI1 (Q469R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 393229	NM_005097.4(LGI1):c.1413G>A (p.Met471Ile)	LGI1 (M471I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 420035	NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln)	LGI1 (R474Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal dominant epilepsy with auditory features +1 more	GLikely pathogenic
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 381352	NM_005097.4(LGI1):c.1482T>C (p.Ser494=)	LGI1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1712729	NM_005097.4(LGI1):c.1516G>A (p.Ala506Thr)	LGI1 (A458T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366201	NM_005097.4(LGI1):c.1541T>G (p.Phe514Cys)	LGI1 (F466C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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