"Revvity Omics, Revvity"[submitter] AND "LGI4"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433426	NM_139284.3(LGI4):c.1250C>A (p.Ala417Asp)	LGI4 (A417D)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 2433428	NM_139284.3(LGI4):c.632T>A (p.Leu211Gln)	LGI4 (L211Q)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +1 more	GUncertain significance
Select item 2441163	NM_139284.3(LGI4):c.312C>A (p.Tyr104Ter)	LGI4 (Y104*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 2433427	NM_139284.3(LGI4):c.242T>A (p.Leu81His)	LGI4 (L81H)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GUncertain significance
Select item 1324662	NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)	LGI4 (R21*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +2 more	GConflicting classifications of pathogenicity

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