"Molecular Medicine, University of Pavia"[submitter] AND "NHS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574627	NM_001291867.2(NHS):c.566-52355A>G	NHS	Single nucleotide variant (intron variant)	Cataract 40	GUncertain significance
Select item 2574153	NM_001291867.2(NHS):c.853-2A>C	NHS	Single nucleotide variant (splice acceptor variant +1 more)	Cataract 40	GPathogenic
Select item 2574154	NM_001291867.2(NHS):c.3801_3802del (p.Ala1268fs)	NHS (A1070fs +3 more)	Microsatellite (frameshift variant)	Nance-Horan syndrome	GPathogenic

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