"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 438021	NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A, USH2A-AS1 (Q1408*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +5 more	GPathogenic
Select item 438020	NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)	USH2A, USH2A-AS1 (N1343H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 438019	NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)	USH2A, USH2A-AS1 (L1278del)	Indel (inframe_deletion)	Usher syndrome	GLikely pathogenic
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A-AS1, USH2A (G1132D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 48497	NM_206933.4(USH2A):c.3158-6A>G	USH2A, USH2A-AS1	Single nucleotide variant (intron variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 438018	NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)	USH2A, USH2A-AS1 (R998S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +1 more	GUncertain significance

ClinVar