C0271097[trait identifier] AND "Faculty of Health Sciences, Beirut Ara - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1067000	NM_206933.4(USH2A):c.11390-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 979017	NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)	USH2A (T281K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 48145	NM_174878.3(CLRN1):c.301_305del (p.Val101fs)	CLRN1 (C158fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 992423	NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser)	CLRN1 (Y63S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1321451	NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln)	ADGRV1 (R2377Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 841898	NM_001384140.1(PCDH15):c.3984-6A>G	PCDH15	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1341497	NM_022124.6(CDH23):c.5535C>A (p.Asn1845Lys)	CDH23 (N1845K)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic