"ClinGen Hearing Loss Variant Curation Expert Panel"[submitter] AND "C - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6611	NM_004086.3(COCH):c.151C>T (p.Pro51Ser)	COCH, LOC100506071 (P51S +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 6613	NM_004086.3(COCH):c.355G>A (p.Ala119Thr)	COCH, LOC100506071 (A119T +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 227258	NM_004086.3(COCH):c.429A>G (p.Pro143=)	COCH, LOC100506071	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 281981	NM_004086.3(COCH):c.629+5C>T	COCH, LOC100506071	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
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	GBenign FDA Recognized database

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