"OMIM"[submitter] AND "LNPK"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559607	NM_030650.3(LNPK):c.751C>T (p.Arg251Ter)	LNPK (R251* +4 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic
Select item 559606	NM_030650.3(LNPK):c.726del (p.Pro243fs)	LNPK (P120fs +4 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GPathogenic