"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618569	NM_004086.3(COCH):c.177C>A (p.Phe59Leu)	COCH, LOC100506071 (F59L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500137	NM_004086.3(COCH):c.272G>A (p.Arg91Gln)	COCH, LOC100506071 (R91Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 226529	NM_004086.3(COCH):c.841G>A (p.Asp281Asn)	COCH, LOC100506071 (D281N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Nonsyndromic genetic hearing loss	GBenignFDA Recognized database
Select item 313004	NM_004086.3(COCH):c.1204A>G (p.Ile402Val)	COCH, LOC100506071 (I402V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 226526	NM_004086.3(COCH):c.1269C>T (p.Asp423=)	COCH, LOC100506071	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant nonsyndromic hearing loss 9 +2 more	GBenign
Select item 228523	NM_004086.3(COCH):c.1348A>G (p.Ile450Val)	COCH, LOC100506071 (I450V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity

ClinVar