"Ambry Genetics"[submitter] AND "LOC129932732"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2375429	NM_018230.3(NUP133):c.170C>G (p.Ser57Trp)	LOC129932732, NUP133 (S57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202950	NM_018230.3(NUP133):c.134C>A (p.Ser45Tyr)	LOC129932732, NUP133 (S45Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202949	NM_018230.3(NUP133):c.133T>G (p.Ser45Ala)	LOC129932732, NUP133 (S45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202948	NM_018230.3(NUP133):c.124G>A (p.Ala42Thr)	LOC129932732, NUP133 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202956	NM_018230.3(NUP133):c.77G>A (p.Gly26Asp)	LOC129932732, NUP133 (G26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349316	NM_018230.3(NUP133):c.13G>A (p.Ala5Thr)	LOC129932732, NUP133 (A5T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar