"OMIM"[submitter] AND "GLIS2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127160	NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)	GLIS2 (C175R)	Single nucleotide variant (missense variant)	Nephronophthisis	Gnot provided
Select item 1299703	NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del)	GLIS2	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242364	NM_032575.3(GLIS2):c.775+1G>T	GLIS2	Single nucleotide variant (splice donor variant)	GLIS2-related disorder	GPathogenic

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