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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227469	NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)	KCNQ4	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 208366	NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)	KCNQ4 (S269del)	Microsatellite (inframe_deletion)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 505302	NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)	KCNQ4 (W275C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 6241	NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)	KCNQ4 (G285S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

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