"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NUP93"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646549	NM_014669.5(NUP93):c.744G>T (p.Val248=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224968	NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)	NUP93 (R388W +1 more)	Single nucleotide variant (missense variant)	NUP93-related condition +2 more	GConflicting classifications of pathogenicity
Select item 224964	NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)	NUP93 (G591V +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +1 more	GPathogenic/Likely pathogenic
Select item 3234194	NM_014669.5(NUP93):c.1968G>A (p.Pro656=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916314	NM_014669.5(NUP93):c.2137-18G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1240841	NM_014669.5(NUP93):c.*21C>G	NUP93	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

ClinVar