"National Institute on Deafness and Communication Disorders, National - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866663	NM_206933.4(USH2A):c.14649del (p.Ile4883fs)	USH2A (I4883fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 917733	NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs)	USH2A (G4489fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 440396	NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)	USH2A (V4454D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 48537	NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)	USH2A, USH2A-AS2 (G1871D)	Single nucleotide variant (missense variant)	Childhood onset hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 932237	NM_206933.4(USH2A):c.4396+2T>G	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A	GPathogenic
Select item 48512	NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)	USH2A-AS1, USH2A (N1379fs)	Microsatellite (frameshift variant)	Rare genetic deafness +2 more	GPathogenic
Select item 932236	NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter)	USH2A, USH2A-AS1 (R1281*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 556562	NM_206933.4(USH2A):c.2168-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic

ClinVar