"PreventionGenetics, part of Exact Sciences"[submitter] AND "USH2A-AS1 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 194908	NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48508	NM_206933.4(USH2A):c.3812-8T>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GBenign
Select item 755320	NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)	USH2A-AS1, USH2A	Single nucleotide variant (synonymous variant)	USH2A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A, USH2A-AS1 (G1132D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 295433	NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)	USH2A, USH2A-AS1 (I1107S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 48492	NM_206933.4(USH2A):c.2829C>A (p.Gly943=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign

ClinVar