9132[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
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 2918010	NM_004700.4(KCNQ4):c.15C>T (p.Pro5=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553452	NM_004700.4(KCNQ4):c.27C>T (p.Leu9=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033528	NM_004700.4(KCNQ4):c.28G>A (p.Gly10Ser)	KCNQ4 (G10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2993508	NM_004700.4(KCNQ4):c.44_60dup (p.Ala21fs)	KCNQ4 (A21fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2250696	NM_004700.4(KCNQ4):c.50A>C (p.Asp17Ala)	KCNQ4 (D17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1949225	NM_004700.4(KCNQ4):c.52_53delinsAG (p.Ala18Ser)	KCNQ4 (A18S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2986989	NM_004700.4(KCNQ4):c.53C>T (p.Ala18Val)	KCNQ4 (A18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2250698	NM_004700.4(KCNQ4):c.65A>C (p.Glu22Ala)	KCNQ4 (E22A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022678	NM_004700.4(KCNQ4):c.80C>G (p.Thr27Arg)	KCNQ4 (T27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2699804	NM_004700.4(KCNQ4):c.110G>A (p.Gly37Asp)	KCNQ4 (G37D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2297526	NM_004700.4(KCNQ4):c.137G>A (p.Gly46Asp)	KCNQ4 (G46D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2286445	NM_004700.4(KCNQ4):c.143T>A (p.Leu48Gln)	KCNQ4 (L48Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2300813	NM_004700.4(KCNQ4):c.169C>T (p.Pro57Ser)	KCNQ4 (P57S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219842	NM_004700.4(KCNQ4):c.175C>T (p.Pro59Ser)	KCNQ4 (P59S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2598752	NM_004700.4(KCNQ4):c.178G>C (p.Gly60Arg)	KCNQ4 (G60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275644	NM_004700.4(KCNQ4):c.181C>T (p.Pro61Ser)	KCNQ4 (P61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3023196	NM_004700.4(KCNQ4):c.182C>T (p.Pro61Leu)	KCNQ4 (P61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534207	NM_004700.4(KCNQ4):c.187T>G (p.Ser63Ala)	KCNQ4 (S63A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1719808	NM_004700.4(KCNQ4):c.208G>A (p.Gly70Ser)	KCNQ4 (G70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287741	NM_004700.4(KCNQ4):c.209G>C (p.Gly70Ala)	KCNQ4 (G70A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6248	NM_004700.4(KCNQ4):c.211del (p.Gln71fs)	KCNQ4 (Q71fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 6245	NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)	KCNQ4 (Q71fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 1215845	NM_004700.4(KCNQ4):c.222G>A (p.Ser74=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184819	NM_004700.4(KCNQ4):c.223G>A (p.Ala75Thr)	KCNQ4 (A75T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305862	NM_004700.4(KCNQ4):c.224C>T (p.Ala75Val)	KCNQ4 (A75V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208364	NM_004700.4(KCNQ4):c.228_229dup (p.His77fs)	KCNQ4 (H77fs)	Microsatellite (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 3254638	NM_004700.4(KCNQ4):c.227C>G (p.Ala76Gly)	KCNQ4 (A76G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	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 2585201	NM_004700.4(KCNQ4):c.232A>T (p.Lys78Ter)	KCNQ4 (K78*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 2A	GUncertain significance
Select item 3113471	NM_004700.4(KCNQ4):c.233A>G (p.Lys78Arg)	KCNQ4 (K78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2421445	NM_004700.4(KCNQ4):c.252G>A (p.Gln84=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2496335	NM_004700.4(KCNQ4):c.268G>C (p.Val90Leu)	KCNQ4 (V90L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2548536	NM_004700.4(KCNQ4):c.292G>A (p.Ala98Thr)	KCNQ4 (A98T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2049347	NM_004700.4(KCNQ4):c.314+18C>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 259520	NM_004700.4(KCNQ4):c.315-18_315-16delinsTTT	KCNQ4	Indel (intron variant)	not specified	GLikely benign
Select item 259519	NM_004700.4(KCNQ4):c.315-16C>T	KCNQ4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 227468	NM_004700.4(KCNQ4):c.315-9T>C	KCNQ4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2180455	NM_004700.4(KCNQ4):c.316T>G (p.Phe106Val)	KCNQ4 (F106V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 505394	NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser)	KCNQ4 (N129S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2572762	NM_004700.4(KCNQ4):c.405+120_405+166del	KCNQ4	Deletion (intron variant)	not provided	GLikely benign
Select item 1907918	NM_004700.4(KCNQ4):c.406-12C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2120280	NM_004700.4(KCNQ4):c.406-2A>G	KCNQ4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 3338059	NM_004700.4(KCNQ4):c.436G>A (p.Glu146Lys)	KCNQ4 (E146K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	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 2889420	NM_004700.4(KCNQ4):c.444C>T (p.Ile148=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 179111	NM_004700.4(KCNQ4):c.459del (p.Ala154fs)	KCNQ4 (A154fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
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 2978740	NM_004700.4(KCNQ4):c.480C>G (p.Tyr160Ter)	KCNQ4 (Y160*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1493152	NM_004700.4(KCNQ4):c.493G>A (p.Gly165Ser)	KCNQ4 (G165S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1929672	NM_004700.4(KCNQ4):c.533-13C>G	KCNQ4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724942	NM_004700.4(KCNQ4):c.533-7C>T	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 2250697	NM_004700.4(KCNQ4):c.584G>A (p.Gly195Asp)	KCNQ4 (G195D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2796661	NM_004700.4(KCNQ4):c.599C>G (p.Thr200Arg)	KCNQ4 (T200R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239340	NM_004700.4(KCNQ4):c.603C>T (p.Ser201=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3365926	NM_004700.4(KCNQ4):c.639C>T (p.Arg213=)	KCNQ4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3287742	NM_004700.4(KCNQ4):c.640A>G (p.Met214Val)	KCNQ4 (M214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1806181	NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)	KCNQ4 (W224R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	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 1313583	NM_004700.4(KCNQ4):c.680T>C (p.Leu227Pro)	KCNQ4 (L227P)	Single nucleotide variant (missense variant)	not provided	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 208365	NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu)	KCNQ4 (V230E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2A	GPathogenic
Select item 2081964	NM_004700.4(KCNQ4):c.695_705delinsTG (p.Tyr232_Ser235delinsLeu)	KCNQ4	Indel (inframe_indel)	not provided	GUncertain significance
Select item 179317	NM_004700.4(KCNQ4):c.699G>C (p.Ala233=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1185583	NM_004700.4(KCNQ4):c.701A>T (p.His234Leu)	KCNQ4 (H234L)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment	GPathogenic
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 3346819	NM_004700.4(KCNQ4):c.704G>T (p.Ser235Ile)	KCNQ4 (S235I)	Single nucleotide variant (missense variant)	KCNQ4-related disorder	GUncertain significance
Select item 197239	NM_004700.4(KCNQ4):c.708+9T>A	KCNQ4	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 45104	NM_004700.4(KCNQ4):c.708+14G>C	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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