Related gene-specific medical variations for Gene (Select 163175) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362460	NM_139284.3(LGI4):c.830G>C (p.Gly277Ala)	LGI4 (G277A)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	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 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 1252057	NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)	LGI4 (E321K)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 974841	NM_139284.3(LGI4):c.263_265del (p.Phe88del)	LGI4 (F88del)	Deletion (inframe_deletion)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 974840	NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)	LGI4 (C424*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 549680	NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)	LGI4 (L67R)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GLikely pathogenic
Select item 549679	NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)	LGI4 (Q385*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	GPathogenic