Related gene-specific medical variations for Gene (Select 9132) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440965	NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)	KCNQ4 (Q122*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 2433031	NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)	KCNQ4 (V566D +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 1184480	NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser)	KCNQ4 (Y286S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 979187	NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)	KCNQ4 (G287S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GLikely pathogenic
Select item 625441	NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del)	KCNQ4	Deletion (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 618187	NM_004700.4(KCNQ4):c.1647C>T (p.Phe549=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591002	NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr)	KCNQ4 (D266Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 424895	NM_004700.4(KCNQ4):c.2086T>G (p.Ter696Gly)	KCNQ4	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 259520	NM_004700.4(KCNQ4):c.315-18_315-16delinsTTT	KCNQ4	Indel (intron variant)	not specified	GLikely benign
Select item 259518	NM_004700.4(KCNQ4):c.1116C>A (p.Ile372=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 156337	NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)	KCNQ4 (G287R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 65893	NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)	KCNQ4 (W242*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 21424	NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)	KCNQ4, LOC129930282 (F182L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity