ClinVar for MedGen (Select 1823972) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433425	NM_139278.4(LGI3):c.1322G>A (p.Arg441His)	LGI3 (R441H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	GUncertain significance
Select item 1699933	NM_139278.4(LGI3):c.937del (p.Thr313fs)	LGI3 (T313fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699929	NM_139278.4(LGI3):c.1117del (p.Trp373fs)	LGI3 (W373fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699928	NM_139278.4(LGI3):c.991G>A (p.Asp331Asn)	LGI3 (D331N)	Single nucleotide variant (missense variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699927	NM_139278.4(LGI3):c.335C>A (p.Ser112Ter)	LGI3 (S112*)	Single nucleotide variant (nonsense)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699926	NM_139278.4(LGI3):c.494+1G>C	LGI3	Single nucleotide variant (splice donor variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic

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