"Ambry Genetics"[submitter] AND "LGI3"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118525	NM_139278.4(LGI3):c.1610T>A (p.Leu537Gln)	LGI3 (L537Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290547	NM_139278.4(LGI3):c.1592G>C (p.Ser531Thr)	LGI3 (S531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118524	NM_139278.4(LGI3):c.1528G>A (p.Val510Met)	LGI3 (V510M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371612	NM_139278.4(LGI3):c.1510C>T (p.Arg504Trp)	LGI3 (R504W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461304	NM_139278.4(LGI3):c.1496G>A (p.Arg499Gln)	LGI3 (R499Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2269856	NM_139278.4(LGI3):c.1447C>A (p.Leu483Met)	LGI3 (L483M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482873	NM_139278.4(LGI3):c.1363C>A (p.Arg455Ser)	LGI3 (R455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278741	NM_139278.4(LGI3):c.1363C>T (p.Arg455Cys)	LGI3 (R455C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118523	NM_139278.4(LGI3):c.1328T>C (p.Ile443Thr)	LGI3 (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291598	NM_139278.4(LGI3):c.1274C>T (p.Ala425Val)	LGI3 (A425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207360	NM_139278.4(LGI3):c.1166G>A (p.Arg389Gln)	LGI3 (R389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295043	NM_139278.4(LGI3):c.1126G>C (p.Asp376His)	LGI3 (D376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616284	NM_139278.4(LGI3):c.1120C>T (p.His374Tyr)	LGI3 (H374Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294943	NM_139278.4(LGI3):c.1114C>A (p.Pro372Thr)	LGI3 (P372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298837	NM_139278.4(LGI3):c.1073G>A (p.Arg358His)	LGI3 (R358H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3290548	NM_139278.4(LGI3):c.1007G>A (p.Arg336His)	LGI3 (R336H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118530	NM_139278.4(LGI3):c.976G>A (p.Val326Met)	LGI3 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613086	NM_139278.4(LGI3):c.968C>T (p.Pro323Leu)	LGI3 (P323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488591	NM_139278.4(LGI3):c.946A>G (p.Thr316Ala)	LGI3 (T316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488590	NM_139278.4(LGI3):c.927T>G (p.Asp309Glu)	LGI3 (D309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309726	NM_139278.4(LGI3):c.916T>A (p.Tyr306Asn)	LGI3 (Y306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282235	NM_139278.4(LGI3):c.863T>C (p.Val288Ala)	LGI3 (V288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528905	NM_139278.4(LGI3):c.859G>T (p.Val287Leu)	LGI3 (V287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118529	NM_139278.4(LGI3):c.841G>A (p.Val281Met)	LGI3 (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290549	NM_139278.4(LGI3):c.818A>G (p.Asp273Gly)	LGI3 (D273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549043	NM_139278.4(LGI3):c.814T>C (p.Tyr272His)	LGI3 (Y272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400240	NM_139278.4(LGI3):c.775A>G (p.Ile259Val)	LGI3 (I259V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118528	NM_139278.4(LGI3):c.742G>A (p.Ala248Thr)	LGI3 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254028	NM_139278.4(LGI3):c.737A>G (p.Tyr246Cys)	LGI3 (Y246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118527	NM_139278.4(LGI3):c.698C>T (p.Ala233Val)	LGI3 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555971	NM_139278.4(LGI3):c.688G>A (p.Ala230Thr)	LGI3 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601411	NM_139278.4(LGI3):c.635C>T (p.Pro212Leu)	LGI3 (P212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118526	NM_139278.4(LGI3):c.532G>A (p.Val178Met)	LGI3 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510527	NM_139278.4(LGI3):c.531G>C (p.Lys177Asn)	LGI3 (K177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386447	NM_139278.4(LGI3):c.514C>T (p.Leu172Phe)	LGI3 (L172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280734	NM_139278.4(LGI3):c.469C>G (p.Arg157Gly)	LGI3 (R157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259465	NM_139278.4(LGI3):c.275T>C (p.Phe92Ser)	LGI3 (F92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401666	NM_139278.4(LGI3):c.253T>C (p.Ser85Pro)	LGI3 (S85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623925	NM_139278.4(LGI3):c.242A>G (p.Asp81Gly)	LGI3 (D81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617490	NM_139278.4(LGI3):c.241G>A (p.Asp81Asn)	LGI3 (D81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629432	NM_139278.4(LGI3):c.110C>T (p.Pro37Leu)	LGI3 (P37L)	Single nucleotide variant (missense variant)	LGI3-related disorder +1 more	GUncertain significance
Select item 2455518	NM_139278.4(LGI3):c.53C>T (p.Ser18Phe)	LGI3 (S18F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2353726	NM_139278.4(LGI3):c.5C>A (p.Ala2Glu)	LGI3 (A2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43