"Revvity Omics, Revvity"[submitter] AND "UPF3B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981402	NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)	UPF3B (R341* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14 +1 more	GLikely pathogenic
Select item 1325336	NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)	UPF3B (E315* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
Select item 2438490	NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)	UPF3B (R272K)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 198608	NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	UPF3B (R225fs)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability 14 +1 more	GPathogenic
Select item 1323743	NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)	UPF3B (E224*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability 14	GPathogenic
Select item 1735870	NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)	UPF3B (I130V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar