"GeneDx"[submitter] AND "KCNQ4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1182412	NC_000001.11:g.40783732C>G	KCNQ4	Single nucleotide variant	not provided	GLikely benign
Select item 282152	NM_004700.4(KCNQ4):c.-14G>T	KCNQ4	Single nucleotide variant (5 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1314888	NM_004700.4(KCNQ4):c.81G>A (p.Thr27=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3343127	NM_004700.4(KCNQ4):c.110dup (p.Gly38fs)	KCNQ4 (G38fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 585006	NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)	KCNQ4 (L47P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A +1 more	GPathogenic/Likely pathogenic
Select item 513457	NM_004700.4(KCNQ4):c.149G>A (p.Ser50Asn)	KCNQ4 (S50N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1218070	NM_004700.4(KCNQ4):c.155T>A (p.Leu52Gln)	KCNQ4 (L52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 680321	NM_004700.4(KCNQ4):c.191_202dup (p.62_63GS[5])	KCNQ4	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2383244	NM_004700.4(KCNQ4):c.194C>T (p.Ser65Leu)	KCNQ4 (S65L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1215845	NM_004700.4(KCNQ4):c.222G>A (p.Ser74=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800917	NM_004700.4(KCNQ4):c.231C>A (p.His77Gln)	KCNQ4 (H77Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1310832	NM_004700.4(KCNQ4):c.274G>A (p.Glu92Lys)	KCNQ4 (E92K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572796	NM_004700.4(KCNQ4):c.297C>T (p.Phe99=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2442470	NM_004700.4(KCNQ4):c.305A>G (p.His102Arg)	KCNQ4 (H102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203771	NM_004700.4(KCNQ4):c.314+38C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2572762	NM_004700.4(KCNQ4):c.405+120_405+166del	KCNQ4	Deletion (intron variant)	not provided	GLikely benign
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 1262382	NM_004700.4(KCNQ4):c.533-58C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208116	NM_004700.4(KCNQ4):c.533-34G>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 21424	NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)	KCNQ4, LOC129930282 (F182L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3365926	NM_004700.4(KCNQ4):c.639C>T (p.Arg213=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 21425	NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1313583	NM_004700.4(KCNQ4):c.680T>C (p.Leu227Pro)	KCNQ4 (L227P)	Single nucleotide variant (missense variant)	not provided	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 423333	NM_004700.4(KCNQ4):c.701A>G (p.His234Arg)	KCNQ4 (H234R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 45104	NM_004700.4(KCNQ4):c.708+14G>C	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1274796	NM_004700.4(KCNQ4):c.708+54A>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274612	NM_004700.4(KCNQ4):c.708+121C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212206	NM_004700.4(KCNQ4):c.708+139C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179961	NM_004700.4(KCNQ4):c.708+157C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245442	NM_004700.4(KCNQ4):c.708+168A>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251815	NM_004700.4(KCNQ4):c.708+175T>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247751	NM_004700.4(KCNQ4):c.709-209G>C	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296856	NM_004700.4(KCNQ4):c.709-185A>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223920	NM_004700.4(KCNQ4):c.709-155G>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2577550	NM_004700.4(KCNQ4):c.734G>A (p.Gly245Glu)	KCNQ4 (G245E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 21426	NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys)	KCNQ4 (E260K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308735	NM_004700.4(KCNQ4):c.785A>G (p.Asp262Gly)	KCNQ4 (D262G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693041	NM_004700.4(KCNQ4):c.791A>T (p.Asn264Ile)	KCNQ4 (N264I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1214897	NM_004700.4(KCNQ4):c.822C>A (p.Leu274=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372951	NM_004700.4(KCNQ4):c.824G>C (p.Trp275Ser)	KCNQ4 (W275S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 682780	NM_004700.4(KCNQ4):c.834+27C>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187827	NM_004700.4(KCNQ4):c.834+34C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253158	NM_004700.4(KCNQ4):c.834+148C>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241861	NM_004700.4(KCNQ4):c.834+151A>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201725	NM_004700.4(KCNQ4):c.839C>A (p.Thr280Lys)	KCNQ4 (T280K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1304285	NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val)	KCNQ4 (G287V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1304257	NM_004700.4(KCNQ4):c.862G>A (p.Asp288Asn)	KCNQ4 (D288N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 208371	NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser)	KCNQ4 (R297S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307379	NM_004700.4(KCNQ4):c.913_919delinsA (p.Leu305_Gly307delinsSer)	KCNQ4	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1219282	NM_004700.4(KCNQ4):c.946-35C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 505423	NM_004700.4(KCNQ4):c.946-12C>G	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 1202991	NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp)	KCNQ4 (R338W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3253014	NM_004700.4(KCNQ4):c.1013G>A (p.Arg338Gln)	KCNQ4 (R338Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327186	NM_004700.4(KCNQ4):c.1041+32C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197778	NM_004700.4(KCNQ4):c.1041+177C>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196862	NM_004700.4(KCNQ4):c.1042-52G>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290633	NM_004700.4(KCNQ4):c.1130+28T>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287622	NM_004700.4(KCNQ4):c.1130+31G>C	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217957	NM_004700.4(KCNQ4):c.1130+41G>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230868	NM_004700.4(KCNQ4):c.1131-190C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331134	NM_004700.4(KCNQ4):c.1156G>A (p.Val386Met)	KCNQ4 (V386M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2578148	NM_004700.4(KCNQ4):c.1292+6G>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	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 1245275	NM_004700.4(KCNQ4):c.1292+63T>C	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252657	NM_004700.4(KCNQ4):c.1292+305C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208936	NM_004700.4(KCNQ4):c.1293-114C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450535	NM_004700.4(KCNQ4):c.1297C>T (p.Arg433Trp)	KCNQ4 (R433W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892780	NM_004700.4(KCNQ4):c.1315C>T (p.Arg439Cys)	KCNQ4 (R385C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700343	NM_004700.4(KCNQ4):c.1339C>T (p.Arg447Trp)	KCNQ4 (R393W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3370080	NM_004700.4(KCNQ4):c.1369G>A (p.Ala457Thr)	KCNQ4 (A403T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429247	NM_004700.4(KCNQ4):c.1372C>A (p.Pro458Thr)	KCNQ4 (P458T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046054	NM_004700.4(KCNQ4):c.1422C>T (p.Thr474=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1698344	NM_004700.4(KCNQ4):c.1453T>C (p.Phe485Leu)	KCNQ4 (F431L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2500686	NM_004700.4(KCNQ4):c.1498C>G (p.Arg500Gly)	KCNQ4 (R446G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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