"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome +11 more	GPathogenic
Select item 48355	NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)	USH2A (T3571M)	Single nucleotide variant (missense variant)	Rare genetic deafness +7 more	GPathogenic/Likely pathogenic
Select item 2506542	GRCh37/hg19 1q41(chr1:216138660-216270555)	USH2A	Copy number loss	Usher syndrome type 2A	GPathogenic

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