ClinVar for OMIM (Select 607614) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590317	NM_024844.5(NUP85):c.405+1G>A	NUP85	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 17	GPathogenic
Select item 590316	NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)	GGA3, NUP85 (R645W +2 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 17	GLikely pathogenic