"GeneDx"[submitter] AND "LGI3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 2663271	NM_139278.4(LGI3):c.1077G>T (p.Trp359Cys)	LGI3 (W359C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371917	NM_139278.4(LGI3):c.1033G>A (p.Val345Met)	LGI3 (V345M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370739	NM_139278.4(LGI3):c.940C>T (p.Arg314Cys)	LGI3 (R314C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371681	NM_139278.4(LGI3):c.356T>C (p.Ile119Thr)	LGI3 (I119T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572908	NM_139278.4(LGI3):c.351-1G>A	LGI3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2430614	NM_139278.4(LGI3):c.271C>T (p.Gln91Ter)	LGI3 (Q91*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3371918	NM_139278.4(LGI3):c.170C>T (p.Ala57Val)	LGI3 (A57V)	Single nucleotide variant (missense variant)	not provided	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 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic