"Genome-Nilou Lab"[submitter] AND "KCNQ4"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 730845	NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)	KCNQ4 (P59L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GBenign/Likely benign
Select item 1437818	NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup)	KCNQ4	Microsatellite (inframe_insertion)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GUncertain significance
Select item 259521	NM_004700.4(KCNQ4):c.315-18C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 259519	NM_004700.4(KCNQ4):c.315-16C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1049775	NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr)	KCNQ4 (I140T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 178387	NM_004700.4(KCNQ4):c.438G>A (p.Glu146=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 178388	NM_004700.4(KCNQ4):c.465A>C (p.Gly155=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2261256	NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)	KCNQ4 (G162E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1297718	NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp)	KCNQ4 (G222D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 2064839	NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)	KCNQ4 (L226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 504603	NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)	KCNQ4 (G228C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 1312296	NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)	KCNQ4 (S229L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45104	NM_004700.4(KCNQ4):c.708+14G>C	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 504604	NM_004700.4(KCNQ4):c.735G>A (p.Gly245=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GLikely benign
Select item 45105	NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 178690	NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg)	KCNQ4 (G277R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 667252	NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 45106	NM_004700.4(KCNQ4):c.841T>C (p.Leu281=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 6246	NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)	KCNQ4 (L281S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 45107	NM_004700.4(KCNQ4):c.873G>A (p.Pro291=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign
Select item 45108	NM_004700.4(KCNQ4):c.879A>G (p.Thr293=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 505423	NM_004700.4(KCNQ4):c.946-12C>G	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 228774	NM_004700.4(KCNQ4):c.946-3T>A	KCNQ4	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 6243	NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)	KCNQ4 (G321S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 163750	NM_004700.4(KCNQ4):c.972G>A (p.Leu324=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45100	NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)	KCNQ4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign/Likely benign
Select item 228769	NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly)	KCNQ4 (E398G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 1465186	NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln)	KCNQ4 (R401Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1187613	NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu)	KCNQ4 (P403L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 666707	NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys)	KCNQ4 (R411C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign/Likely benign
Select item 593390	NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln)	KCNQ4 (R420Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 1199646	NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly)	KCNQ4 (S423G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 163753	NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg)	KCNQ4 (S423R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 227465	NM_004700.4(KCNQ4):c.1292+12G>A	KCNQ4	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign/Likely benign
Select item 163754	NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr)	KCNQ4 (M442T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1687686	NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp)	KCNQ4 (R394W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45101	NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln)	KCNQ4 (H455Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 227466	NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 944908	NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)	KCNQ4 (Q480* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GPathogenic/Likely pathogenic
Select item 1201537	NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His)	KCNQ4 (R434H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1304466	NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His)	KCNQ4 (R446H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 504605	NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val)	KCNQ4 (A506V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GUncertain significance
Select item 228770	NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile)	KCNQ4 (V511I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 504606	NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GLikely benign
Select item 45102	NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 45103	NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign
Select item 163755	NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 163756	NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu)	KCNQ4 (D606E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign
Select item 226687	NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=)	KCNQ4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 2A +2 more	GBenign
Select item 929965	NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign

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Items: 50