C1848634[trait identifier] AND "Bioscientia Institut fuer Medizinische - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635525	NM_206933.4(USH2A):c.11174del (p.Phe3725fs)	USH2A (F3725fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 599145	NM_206933.4(USH2A):c.9372-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A	GPathogenic
Select item 265980	NM_206933.4(USH2A):c.9258+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
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 48502	NM_206933.4(USH2A):c.3435del (p.Val1147fs)	USH2A, USH2A-AS1 (V1147fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GPathogenic
Select item 522464	NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs)	USH2A (N760fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 635484	NM_206933.4(USH2A):c.2195G>T (p.Gly732Val)	USH2A (G732V)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GLikely pathogenic

ClinVar