Related gene-specific medical variations for Gene (Select 9688) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062103	NM_014669.5(NUP93):c.1733G>C (p.Arg578Pro)	NUP93 (R455P +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GLikely pathogenic
Select item 2442155	NM_014669.5(NUP93):c.1574G>A (p.Arg525Gln)	NUP93 (R402Q +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 1344649	NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys)	NUP93 (Y192C +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic

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