C0339534[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome +11 more	GPathogenic
Select item 1069548	NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter)	USH2A (Y3745*)	Single nucleotide variant (nonsense)	Usher syndrome type 2 +2 more	GPathogenic
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Usher syndrome +7 more	GPathogenic/Likely pathogenic
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 695021	NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)	ADGRV1 (W3486*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 2 +1 more	GPathogenic
Select item 813103	NM_153676.4(USH1C):c.580-2A>T	USH1C	Single nucleotide variant (splice acceptor variant)	Hearing impairment +2 more	GPathogenic/Likely pathogenic

ClinVar