C1848634[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865868	NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)	USH2A (N4101del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome type 3A +10 more	GPathogenic
Select item 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 557177	NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter)	USH2A (C3090*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 265980	NM_206933.4(USH2A):c.9258+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 280266	NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)	USH2A (N2651fs)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1675185	NM_206933.4(USH2A):c.3934del (p.Ala1312fs)	USH2A, USH2A-AS1 (A1312fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic/Likely pathogenic
Select item 552518	NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)	USH2A, USH2A-AS1 (G1029V)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance

ClinVar