"Genome-Nilou Lab"[submitter] AND "USP45"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684198	NM_001346022.3(USP45):c.2333A>G (p.Asn778Ser)	TSTD3, USP45 (N418S +4 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 19	GBenign
Select item 1684199	NM_001346022.3(USP45):c.1710A>G (p.Gly570=)	TSTD3, USP45	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 19	GBenign
Select item 1684200	NM_001346022.3(USP45):c.1562G>C (p.Arg521Thr)	TSTD3, USP45 (R161T +4 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 19	GBenign
Select item 1684201	NM_001346022.3(USP45):c.1309-26_1309-22del	USP45, TSTD3	Microsatellite (intron variant)	Leber congenital amaurosis 19	GBenign
Select item 1684202	NM_001346022.3(USP45):c.378-9C>T	TSTD3, USP45	Single nucleotide variant (intron variant)	Leber congenital amaurosis 19	GBenign
Select item 1684203	NM_001346022.3(USP45):c.199A>G (p.Lys67Glu)	TSTD3, USP45 (K66E +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 19	GBenign

ClinVar