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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488062	NM_022463.5(NXN):c.1231GAG[1] (p.Glu412del)	NXN (E304del +1 more)	Microsatellite (inframe_deletion)	Robinow syndrome, autosomal recessive 2	GPathogenic
Select item 488056	NM_022463.5(NXN):c.625C>T (p.Arg209Ter)	NXN (R209* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 638809	NM_022463.5(NXN):c.-6172_361-75725del	LOC101927727, LOC121587569 +2 more	Deletion	Robinow syndrome, autosomal recessive 2	GPathogenic

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