Related gene-specific medical variations for Gene (Select 65109) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661302	NC_000023.11:g.119815271G>C	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2499151	NC_000023.11:g.119815258C>T	UPF3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
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 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 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 807807	NM_080632.3(UPF3B):c.1030G>A (p.Asp344Asn)	UPF3B (D331N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624437	NM_080632.3(UPF3B):c.2_3insA (p.Met1fs)	UPF3B (M1fs)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 367732	NM_080632.3(UPF3B):c.-13G>C	LOC130068620, UPF3B	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 100888	NM_080632.3(UPF3B):c.772G>C (p.Glu258Gln)	UPF3B (E258Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar