"Center for Molecular Medicine, Children’s Hospital of Fudan Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997681	NM_004447.6(EPS8):c.1435-2A>T	EPS8	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 102	GLikely pathogenic
Select item 997682	GRCh37/hg19 12p12.3(chr12:15800060-15865927)	EPS8	Copy number loss	Autosomal recessive nonsyndromic hearing loss 102	GLikely pathogenic