"Clinical Genetics, Academic Medical Center"[submitter] AND "USH2A-AS2 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284702	NM_206933.4(USH2A):c.5728C>T (p.Gln1910Ter)	USH2A, USH2A-AS2 (Q1910*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1284269	NM_206933.4(USH2A):c.5573-843A>G	USH2A, USH2A-AS2	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 48533	NM_206933.4(USH2A):c.5517G>A (p.Val1839=)	USH2A, USH2A-AS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 265979	NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)	USH2A-AS2, USH2A (V1839E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 195997	NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)	USH2A, USH2A-AS2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 558293	NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro)	USH2A, USH2A-AS2 (L1673P)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GLikely pathogenic

ClinVar