"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NUP133"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2640062	NM_018230.3(NUP133):c.3420C>T (p.Phe1140=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related condition +1 more	GLikely benign
Select item 2582872	NM_018230.3(NUP133):c.3383C>A (p.Ala1128Glu)	NUP133 (A1128E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575600	NM_018230.3(NUP133):c.2561G>A (p.Gly854Asp)	NUP133 (G854D)	Single nucleotide variant (missense variant)	NUP133-related condition +1 more	GBenign/Likely benign
Select item 1562555	NM_018230.3(NUP133):c.1494C>T (p.Asn498=)	NUP133	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2056085	NM_018230.3(NUP133):c.941G>A (p.Arg314Lys)	NUP133 (R314K)	Single nucleotide variant (missense variant)	NUP133-related condition +1 more	GBenign/Likely benign
Select item 1176226	NM_018230.3(NUP133):c.354G>A (p.Val118=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related condition +1 more	GLikely benign

ClinVar