9132[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1499631.	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 GRCh37: Chr1:24707696-41886350 GRCh38: Chr1:24381206-41401517	ADPRS, AGO1, CITED4, CLIC4, FAM167B, FAM229A, HCRTR1, LOC109851610, LOC110120621, LOC112577576, LOC112577577, LOC112577582, LOC115801417, LOC115801418, LOC115801419, LOC120893127, LOC120893128, LOC120893129, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893130, LOC120893131, LOC120893132, LOC121725005, LOC110120729, LOC110120958, LOC112577583, LOC112577584, LOC112577590, LOC112577591, LOC112590790, LOC113939988, LOC112577587, LOC112577588, LOC112577589, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC114803468, HDAC1, HEYL, KPNA6, AGO3, CLSPN, CNKSR1, FAM76A, FCN3, AGO4, CSMD2, CSMD2-AS1, FGR, FHL3, HMGB4, LAPTM5, LCK, LOC110120969, LOC110121002, LOC112577585, LOC112577586, LOC110594336, LOC111464991, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC115801420, LDLRAP1, LINC01778, LINC02574, LINC02811, LITATS1, LOC108254669, LOC101928728, LOC101929536, LOC107988049, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, KIAA0319L, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0754, KIAA1522, FNDC5, GJB4, GJB5, FOXO6, FOXO6-AS1, GJA4, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, GJA9, GJA9-MYCBP, CTPS1, DNAJC8, EPHA10, EVA1B, DCDC2B, GJB3, DNALI1, EIF3I, EPB41, ATP5IF1, C1orf94, CAP1, DHDDS, DHDDS-AS1, DLGAP3, C1orf216, C1orf232, AUNIP, AZIN2, BMP8A, BMP8B, ADGRB2, BSDC1, C1orf122, A3GALT2, AHDC1, AIRIM, AK2, AKIRIN1, ARID1A, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121725012, LOC121725013, LOC121725014, LOC121725016, LOC121725017, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC122056834, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC122056839, LOC122056840, LOC122056841, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC126805692, LOC126805693, LOC126805694, LOC126805695, LOC126805696, LOC126805697, LOC126805698, LOC126805699, LOC126805700, LOC126805701, LOC126805702, LOC126805703, LOC126805704, LOC126805705, LOC126805706, LOC126805707, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC128031832, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1, PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RRAGC-DT, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SCMH1-DT, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF593OS, ZNF683, ZNF684, ZPLD2P, ZSCAN20		See cases	Pathogenic (Jun 1, 2012)	no assertion criteria provided
Select item 599342.	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 GRCh37: Chr1:38574337-42793222 GRCh38: Chr1:38108665-42327551	AKIRIN1, BMP8A, BMP8B, CAP1, CITED4, COL9A2, CTPS1, EDN2, EXO5, FOXJ3, FOXO6, EXO5-DT, FOXO6-AS1, GJA9, GJA9-MYCBP, GUCA2A, GUCA2B, HEYL, HIVEP3, HPCAL4, KCNQ4, KIAA0754, LINC01343, LINC01685, LINC02811, LOC101929536, LOC110120958, LOC110120969, LOC110121002, LOC110121139, LOC110121256, LOC111464991, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC114803468, LOC115801425, LOC120893131, LOC120893132, LOC120893133, LOC121725014, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC128125817, MACF1, MFSD2A, MIR30C1, MIR30E, MIR3659HG, MYCBP, MYCL, MYCL-AS1, NDUFS5, NFYC, NFYC-AS1, NT5C1A, OXCT2, PABPC4, PABPC4-AS1, PPIE, PPT1, RHBDL2, RIMS3, RLF, RRAGC, RRAGC-DT, SCMH1, SCMH1-DT, SLFNL1, SLFNL1-AS1, SMAP2, SNORA55, TMCO2, TRIT1, ZFP69, ZFP69B, ZMPSTE24, ZNF684		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 580723.	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 GRCh37: Chr1:39826419-41366489 GRCh38: Chr1:39360747-40900817	BMP8A, BMP8B, CAP1, CITED4, COL9A2, EXO5, EXO5-DT, HEYL, HPCAL4, KCNQ4, KIAA0754, LINC02811, LOC101929536, LOC111464991, LOC112577597, LOC112577598, LOC112577599, LOC114803468, LOC121725014, LOC122056844, LOC122056845, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, MACF1, MFSD2A, MIR30C1, MIR30E, MYCL, MYCL-AS1, NFYC, NFYC-AS1, NT5C1A, OXCT2, PABPC4, PABPC4-AS1, PPIE, PPT1, RIMS3, RLF, SMAP2, SNORA55, TMCO2, TRIT1, ZFP69, ZFP69B, ZMPSTE24, ZNF684		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 599664.	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 GRCh37: Chr1:40928087-45133712 GRCh38: Chr1:40462415-44668040	LOC112577599, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC128125817, LOC128900003, LOC128900004, LOC339539, MED8, MIR30C1, MIR30E, MIR5584, MIR6079, MIR6733, MIR6734, MIR6735, MPL, NFYC, NFYC-AS1, P3H1, PPCS, PPIH, PTPRF, RIMKLA, RIMS3, RNF220, SCMH1, SCMH1-DT, SLC2A1, SLC2A1-DT, SLC6A9, SLFNL1, SLFNL1-AS1, SNORA110, ST3GAL3, ST3GAL3-AS1, SVBP, SZT2, SZT2-AS1, TIE1, TMEM125, TMEM269, TMEM269-DT, TMEM53, YBX1, ZFP69, ZFP69B, ZMYND12, ZNF684, ZNF691, ARTN, ATP6V0B, B4GALT2, C1orf210, C1orf50, CCDC24, CCDC30, CDC20, CDC20-DT, CFAP144, CFAP57, CITED4, CLDN19, CTPS1, DMAP1, DPH2, EBNA1BP2, EDN2, ELOVL1, ERI3, ERI3-IT1, ERMAP, EXO5, EXO5-DT, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, HYI, HYI-AS1, IPO13, KCNQ4, KDM4A, KDM4A-AS1, KLF17, KLF18, LOC110120642, LOC110120644, LOC110121214, LOC111464991		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 570935.	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 GRCh37: Chr1:41158961-44979776 GRCh38: Chr1:40693289-44514104	P3H1, PTPRF, RIMKLA, PPIH, ST3GAL3, ST3GAL3-AS1, PPCS, RNF220, SCMH1, SCMH1-DT, NFYC, MIR6079, MIR6733, MIR6734, MIR6735, MPL, SLC2A1, SLC2A1-DT, SLC6A9, SLFNL1, SLFNL1-AS1, SNORA110, SVBP, SZT2, SZT2-AS1, TIE1, TMEM125, TMEM269, TMEM269-DT, YBX1, ZMYND12, ZNF691, ARTN, ATP6V0B, B4GALT2, C1orf210, C1orf50, CCDC24, CCDC30, CDC20, CDC20-DT, CFAP144, CFAP57, CITED4, CLDN19, CTPS1, DMAP1, DPH2, EBNA1BP2, EDN2, ELOVL1, ERI3, ERI3-IT1, ERMAP, FOXJ3, FOXO6, FOXO6-AS1, GUCA2A, GUCA2B, HIVEP3, HYI, HYI-AS1, IPO13, KCNQ4, KDM4A, KDM4A-AS1, KLF17, KLF18, LOC110120642, LOC110121214, LOC111464991, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC120893133, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC121725020, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC122056850, LOC122056851, LOC122056852, LOC122056853, LOC122056854, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC126805719, LOC126805720, LOC126805721, LOC126805722, LOC126805723, LOC126805724, LOC126805725, LOC126805726, LOC128125817, LOC128900003, LOC128900004, LOC339539, MED8, MIR30C1, MIR30E		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 11824126.	Single allele GRCh37: Chr1:41249404 GRCh38: Chr1:40783732	KCNQ4		not provided	Likely benign (Jan 13, 2019)	criteria provided, single submitter
Select item 2821527.	NM_004700.4(KCNQ4):c.-14G>T GRCh37: Chr1:41249752 GRCh38: Chr1:40784080	KCNQ4		not provided	Conflicting interpretations of pathogenicity (Jun 4, 2018)	criteria provided, conflicting interpretations
Select item 15534528.	NM_004700.4(KCNQ4):c.27C>T (p.Leu9=) GRCh37: Chr1:41249792 GRCh38: Chr1:40784120	KCNQ4		not provided	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 20335289.	NM_004700.4(KCNQ4):c.28G>A (p.Gly10Ser) GRCh37: Chr1:41249793 GRCh38: Chr1:40784121	KCNQ4	G10S	not provided	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 225069610.	NM_004700.4(KCNQ4):c.50A>C (p.Asp17Ala) GRCh37: Chr1:41249815 GRCh38: Chr1:40784143	KCNQ4	D17A	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 194922511.	NM_004700.4(KCNQ4):c.52_53delinsAG (p.Ala18Ser) GRCh37: Chr1:41249817-41249818 GRCh38: Chr1:40784145-40784146	KCNQ4	A18S	not provided	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 225069812.	NM_004700.4(KCNQ4):c.65A>C (p.Glu22Ala) GRCh37: Chr1:41249830 GRCh38: Chr1:40784158	KCNQ4	E22A	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 131488813.	NM_004700.4(KCNQ4):c.81G>A (p.Thr27=) GRCh37: Chr1:41249846 GRCh38: Chr1:40784174	KCNQ4		not provided	Uncertain significance (Apr 26, 2021)	criteria provided, single submitter
Select item 229752614.	NM_004700.4(KCNQ4):c.137G>A (p.Gly46Asp) GRCh37: Chr1:41249902 GRCh38: Chr1:40784230	KCNQ4	G46D	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 58500615.	NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) GRCh37: Chr1:41249905 GRCh38: Chr1:40784233	KCNQ4	L47P	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 228644516.	NM_004700.4(KCNQ4):c.143T>A (p.Leu48Gln) GRCh37: Chr1:41249908 GRCh38: Chr1:40784236	KCNQ4	L48Q	Inborn genetic diseases	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 51345717.	NM_004700.4(KCNQ4):c.149G>A (p.Ser50Asn) GRCh37: Chr1:41249914 GRCh38: Chr1:40784242	KCNQ4	S50N	not specified	Likely benign (Dec 6, 2017)	criteria provided, single submitter
Select item 121807018.	NM_004700.4(KCNQ4):c.155T>A (p.Leu52Gln) GRCh37: Chr1:41249920 GRCh38: Chr1:40784248	KCNQ4	L52Q	not provided	Uncertain significance (Apr 2, 2020)	criteria provided, single submitter
Select item 230081319.	NM_004700.4(KCNQ4):c.169C>T (p.Pro57Ser) GRCh37: Chr1:41249934 GRCh38: Chr1:40784262	KCNQ4	P57S	Inborn genetic diseases	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 221984220.	NM_004700.4(KCNQ4):c.175C>T (p.Pro59Ser) GRCh37: Chr1:41249940 GRCh38: Chr1:40784268	KCNQ4	P59S	Inborn genetic diseases	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 73084521.	NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu) GRCh37: Chr1:41249941 GRCh38: Chr1:40784269	KCNQ4	P59L	not provided	Benign/Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 227564422.	NM_004700.4(KCNQ4):c.181C>T (p.Pro61Ser) GRCh37: Chr1:41249946 GRCh38: Chr1:40784274	KCNQ4	P61S	Inborn genetic diseases	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 68032123.	NM_004700.4(KCNQ4):c.191_202dup (p.62_63GS[5]) GRCh37: Chr1:41249946-41249947 GRCh38: Chr1:40784274-40784275	KCNQ4		not provided	Likely benign (Apr 2, 2018)	criteria provided, single submitter
Select item 253420724.	NM_004700.4(KCNQ4):c.187T>G (p.Ser63Ala) GRCh37: Chr1:41249952 GRCh38: Chr1:40784280	KCNQ4	S63A	Inborn genetic diseases	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 238324425.	NM_004700.4(KCNQ4):c.194C>T (p.Ser65Leu) GRCh37: Chr1:41249959 GRCh38: Chr1:40784287	KCNQ4	S65L	Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 171980826.	NM_004700.4(KCNQ4):c.208G>A (p.Gly70Ser) GRCh37: Chr1:41249973 GRCh38: Chr1:40784301	KCNQ4	G70S	not provided	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 624827.	NM_004700.4(KCNQ4):c.211del (p.Gln71fs) GRCh37: Chr1:41249975 GRCh38: Chr1:40784303	KCNQ4	Q71fs	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Jan 1, 2006)	no assertion criteria provided
Select item 624528.	NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) GRCh37: Chr1:41249976-41249988 GRCh38: Chr1:40784304-40784316	KCNQ4	Q71fs	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Nov 22, 2019)	no assertion criteria provided
Select item 121584529.	NM_004700.4(KCNQ4):c.222G>A (p.Ser74=) GRCh37: Chr1:41249987 GRCh38: Chr1:40784315	KCNQ4		not provided	Likely benign (Jan 10, 2019)	criteria provided, single submitter
Select item 218481930.	NM_004700.4(KCNQ4):c.223G>A (p.Ala75Thr) GRCh37: Chr1:41249988 GRCh38: Chr1:40784316	KCNQ4	A75T	not provided	Benign (Jun 15, 2022)	criteria provided, single submitter
Select item 230586231.	NM_004700.4(KCNQ4):c.224C>T (p.Ala75Val) GRCh37: Chr1:41249989 GRCh38: Chr1:40784317	KCNQ4	A75V	Inborn genetic diseases	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 20836432.	NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) GRCh37: Chr1:41249989-41249990 GRCh38: Chr1:40784317-40784318	KCNQ4	H77fs	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 180091733.	NM_004700.4(KCNQ4):c.231C>A (p.His77Gln) GRCh37: Chr1:41249996 GRCh38: Chr1:40784324	KCNQ4	H77Q	not provided	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 143781834.	NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup) GRCh37: Chr1:41250004-41250005 GRCh38: Chr1:40784332-40784333	KCNQ4		not provided	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 242144535.	NM_004700.4(KCNQ4):c.252G>A (p.Gln84=) GRCh37: Chr1:41250017 GRCh38: Chr1:40784345	KCNQ4		not provided	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 62544136.	NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) GRCh37: Chr1:41250024-41250032 GRCh38: Chr1:40784352-40784360	KCNQ4		Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Dec 7, 2017)	no assertion criteria provided
Select item 249633537.	NM_004700.4(KCNQ4):c.268G>C (p.Val90Leu) GRCh37: Chr1:41250033 GRCh38: Chr1:40784361	KCNQ4	V90L	Inborn genetic diseases	Uncertain significance (Mar 14, 2023)	criteria provided, single submitter
Select item 131083238.	NM_004700.4(KCNQ4):c.274G>A (p.Glu92Lys) GRCh37: Chr1:41250039 GRCh38: Chr1:40784367	KCNQ4	E92K	not provided	Uncertain significance (Dec 3, 2019)	criteria provided, single submitter
Select item 254853639.	NM_004700.4(KCNQ4):c.292G>A (p.Ala98Thr) GRCh37: Chr1:41250057 GRCh38: Chr1:40784385	KCNQ4	A98T	Inborn genetic diseases	Uncertain significance (May 18, 2023)	criteria provided, single submitter
Select item 257279640.	NM_004700.4(KCNQ4):c.297C>T (p.Phe99=) GRCh37: Chr1:41250062 GRCh38: Chr1:40784390	KCNQ4		not provided	Uncertain significance (Jan 11, 2023)	criteria provided, single submitter
Select item 244247041.	NM_004700.4(KCNQ4):c.305A>G (p.His102Arg) GRCh37: Chr1:41250070 GRCh38: Chr1:40784398	KCNQ4	H102R	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 204934742.	NM_004700.4(KCNQ4):c.314+18C>A GRCh37: Chr1:41250097 GRCh38: Chr1:40784425	KCNQ4		not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 120377143.	NM_004700.4(KCNQ4):c.314+38C>T GRCh37: Chr1:41250117 GRCh38: Chr1:40784445	KCNQ4		not provided	Likely benign (Nov 8, 2018)	criteria provided, single submitter
Select item 25952144.	NM_004700.4(KCNQ4):c.315-18C>T GRCh37: Chr1:41282919 GRCh38: Chr1:40817247	KCNQ4		not provided, not specified	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25952045.	NM_004700.4(KCNQ4):c.315-18_315-16delinsTTT GRCh37: Chr1:41282919-41282921 GRCh38: Chr1:40817247-40817249	KCNQ4		not specified	Likely benign	criteria provided, single submitter
Select item 25951946.	NM_004700.4(KCNQ4):c.315-16C>T GRCh37: Chr1:41282921 GRCh38: Chr1:40817249	KCNQ4		not specified, not provided	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22746847.	NM_004700.4(KCNQ4):c.315-9T>C GRCh37: Chr1:41282928 GRCh38: Chr1:40817256	KCNQ4		not specified	Likely benign (Mar 20, 2016)	criteria provided, single submitter
Select item 218045548.	NM_004700.4(KCNQ4):c.316T>G (p.Phe106Val) GRCh37: Chr1:41282938 GRCh38: Chr1:40817266	KCNQ4	F106V	not provided	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 244096549.	NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter) GRCh37: Chr1:41282986 GRCh38: Chr1:40817314	KCNQ4	Q122*	Autosomal dominant nonsyndromic hearing loss 2A	Likely pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 50539450.	NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser) GRCh37: Chr1:41283008 GRCh38: Chr1:40817336	KCNQ4	N129S	not specified	Uncertain significance (Jan 27, 2021)	criteria provided, single submitter
Select item 257276251.	NM_004700.4(KCNQ4):c.405+120_405+166del GRCh37: Chr1:41283101-41283147 GRCh38: Chr1:40817429-40817475	KCNQ4		not provided	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 190791852.	NM_004700.4(KCNQ4):c.406-12C>G GRCh37: Chr1:41283824 GRCh38: Chr1:40818152	KCNQ4		not provided	Benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212028053.	NM_004700.4(KCNQ4):c.406-2A>G GRCh37: Chr1:41283834 GRCh38: Chr1:40818162	KCNQ4		not provided	Likely pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 104977554.	NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr) GRCh37: Chr1:41283849 GRCh38: Chr1:40818177	KCNQ4	I140T	not provided, Inborn genetic diseases, Hearing impairment	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17838755.	NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) GRCh37: Chr1:41283868 GRCh38: Chr1:40818196	KCNQ4		not specified, not provided	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17911156.	NM_004700.4(KCNQ4):c.459del (p.Ala154fs) GRCh37: Chr1:41283888 GRCh38: Chr1:40818216	KCNQ4	A154fs	Rare genetic deafness	Pathogenic (Aug 14, 2013)	criteria provided, single submitter
Select item 17838857.	NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) GRCh37: Chr1:41283895 GRCh38: Chr1:40818223	KCNQ4		not provided, not specified	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226125658.	NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu) GRCh37: Chr1:41283915 GRCh38: Chr1:40818243	KCNQ4	G162E	Inborn genetic diseases	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 149315259.	NM_004700.4(KCNQ4):c.493G>A (p.Gly165Ser) GRCh37: Chr1:41283923 GRCh38: Chr1:40818251	KCNQ4	G165S	not provided	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 126238260.	NM_004700.4(KCNQ4):c.533-58C>G GRCh37: Chr1:41284119 GRCh38: Chr1:40818447	KCNQ4		not provided	Benign (Jun 29, 2018)	criteria provided, single submitter
Select item 120811661.	NM_004700.4(KCNQ4):c.533-34G>A GRCh37: Chr1:41284143 GRCh38: Chr1:40818471	KCNQ4		not provided	Likely benign (Jun 29, 2018)	criteria provided, single submitter
Select item 192967262.	NM_004700.4(KCNQ4):c.533-13C>G GRCh37: Chr1:41284164 GRCh38: Chr1:40818492	KCNQ4		not provided	Benign (Jul 26, 2022)	criteria provided, single submitter
Select item 72494263.	NM_004700.4(KCNQ4):c.533-7C>T GRCh37: Chr1:41284170 GRCh38: Chr1:40818498	KCNQ4		not provided	Likely benign (Feb 12, 2018)	criteria provided, single submitter
Select item 2142464.	NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) GRCh37: Chr1:41284190 GRCh38: Chr1:40818518	KCNQ4	F182L	not specified, not provided	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 225069765.	NM_004700.4(KCNQ4):c.584G>A (p.Gly195Asp) GRCh37: Chr1:41284228 GRCh38: Chr1:40818556	KCNQ4	G195D	Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 2142566.	NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) GRCh37: Chr1:41284292 GRCh38: Chr1:40818620	KCNQ4		not provided, Autosomal dominant nonsyndromic hearing loss 2A	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 129771867.	NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) GRCh37: Chr1:41284309 GRCh38: Chr1:40818637	KCNQ4	G222D	not provided, Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 180618168.	NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg) GRCh37: Chr1:41284314 GRCh38: Chr1:40818642	KCNQ4	W224R	Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 206483969.	NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg) GRCh37: Chr1:41284321 GRCh38: Chr1:40818649	KCNQ4	L226R	Inborn genetic diseases, not provided	Uncertain significance (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131358370.	NM_004700.4(KCNQ4):c.680T>C (p.Leu227Pro) GRCh37: Chr1:41284324 GRCh38: Chr1:40818652	KCNQ4	L227P	not provided	Uncertain significance (Oct 29, 2020)	criteria provided, single submitter
Select item 50460371.	NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) GRCh37: Chr1:41284326 GRCh38: Chr1:40818654	KCNQ4	G228C	not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A	Uncertain significance (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131229672.	NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu) GRCh37: Chr1:41284330 GRCh38: Chr1:40818658	KCNQ4	S229L	not provided, Inborn genetic diseases	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20836573.	NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) GRCh37: Chr1:41284333 GRCh38: Chr1:40818661	KCNQ4	V230E	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 208196474.	NM_004700.4(KCNQ4):c.695_705delinsTG (p.Tyr232_Ser235delinsLeu) GRCh37: Chr1:41284339-41284349 GRCh38: Chr1:40818667-40818677	KCNQ4		not provided	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 17931775.	NM_004700.4(KCNQ4):c.699G>C (p.Ala233=) GRCh37: Chr1:41284343 GRCh38: Chr1:40818671	KCNQ4		not specified	Likely benign (Oct 11, 2013)	criteria provided, single submitter
Select item 118558376.	NM_004700.4(KCNQ4):c.701A>T (p.His234Leu) GRCh37: Chr1:41284345 GRCh38: Chr1:40818673	KCNQ4	H234L	Bilateral sensorineural hearing impairment	Pathogenic	criteria provided, single submitter
Select item 42333377.	NM_004700.4(KCNQ4):c.701A>G (p.His234Arg) GRCh37: Chr1:41284345 GRCh38: Chr1:40818673	KCNQ4	H234R	not provided	Likely pathogenic (Feb 16, 2017)	criteria provided, single submitter
Select item 19723978.	NM_004700.4(KCNQ4):c.708+9T>A GRCh37: Chr1:41284361 GRCh38: Chr1:40818689	KCNQ4		not provided	Conflicting interpretations of pathogenicity (Oct 4, 2021)	criteria provided, conflicting interpretations
Select item 4510479.	NM_004700.4(KCNQ4):c.708+14G>C GRCh37: Chr1:41284366 GRCh38: Chr1:40818694	KCNQ4		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 2A	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127479680.	NM_004700.4(KCNQ4):c.708+54A>G GRCh37: Chr1:41284406 GRCh38: Chr1:40818734	KCNQ4		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 127461281.	NM_004700.4(KCNQ4):c.708+121C>T GRCh37: Chr1:41284473 GRCh38: Chr1:40818801	KCNQ4		not provided	Benign (Dec 17, 2018)	criteria provided, single submitter
Select item 121220682.	NM_004700.4(KCNQ4):c.708+139C>G GRCh37: Chr1:41284491 GRCh38: Chr1:40818819	KCNQ4		not provided	Likely benign (Feb 28, 2019)	criteria provided, single submitter
Select item 117996183.	NM_004700.4(KCNQ4):c.708+157C>G GRCh37: Chr1:41284509 GRCh38: Chr1:40818837	KCNQ4		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 124544284.	NM_004700.4(KCNQ4):c.708+168A>G GRCh37: Chr1:41284520 GRCh38: Chr1:40818848	KCNQ4		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 125181585.	NM_004700.4(KCNQ4):c.708+175T>G GRCh37: Chr1:41284527 GRCh38: Chr1:40818855	KCNQ4		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 124775186.	NM_004700.4(KCNQ4):c.709-209G>C GRCh37: Chr1:41284810 GRCh38: Chr1:40819138	KCNQ4		not provided	Benign (May 7, 2019)	criteria provided, single submitter
Select item 129685687.	NM_004700.4(KCNQ4):c.709-185A>T GRCh37: Chr1:41284834 GRCh38: Chr1:40819162	KCNQ4		not provided	Benign (Nov 29, 2018)	criteria provided, single submitter
Select item 122392088.	NM_004700.4(KCNQ4):c.709-155G>A GRCh37: Chr1:41284864 GRCh38: Chr1:40819192	KCNQ4		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 22746989.	NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) GRCh37: Chr1:41285030 GRCh38: Chr1:40819358	KCNQ4		Nonsyndromic genetic hearing loss	Likely benign (Sep 28, 2018)	reviewed by expert panel FDA Recognized Database
Select item 6589390.	NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter) GRCh37: Chr1:41285035 GRCh38: Chr1:40819363	KCNQ4	W242*	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Jun 20, 2013)	no assertion criteria provided
Select item 257755091.	NM_004700.4(KCNQ4):c.734G>A (p.Gly245Glu) GRCh37: Chr1:41285044 GRCh38: Chr1:40819372	KCNQ4	G245E	not provided	Uncertain significance (Feb 24, 2023)	criteria provided, single submitter
Select item 50460492.	NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) GRCh37: Chr1:41285045 GRCh38: Chr1:40819373	KCNQ4		not specified, not provided	Likely benign (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209385393.	NM_004700.4(KCNQ4):c.746T>C (p.Leu249Pro) GRCh37: Chr1:41285056 GRCh38: Chr1:40819384	KCNQ4	L249P	not provided	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 66684394.	NM_004700.4(KCNQ4):c.751T>C (p.Phe251Leu) GRCh37: Chr1:41285061 GRCh38: Chr1:40819389	KCNQ4	F251L	not specified	Uncertain significance (Nov 14, 2018)	criteria provided, single submitter
Select item 190581095.	NM_004700.4(KCNQ4):c.770A>G (p.Tyr257Cys) GRCh37: Chr1:41285080 GRCh38: Chr1:40819408	KCNQ4	Y257C	not provided	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 4510596.	NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) GRCh37: Chr1:41285087 GRCh38: Chr1:40819415	KCNQ4		not provided, not specified, Autosomal dominant nonsyndromic hearing loss 2A	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2142697.	NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) GRCh37: Chr1:41285088 GRCh38: Chr1:40819416	KCNQ4	E260K	not provided	Uncertain significance (Jun 7, 2021)	criteria provided, single submitter
Select item 130873598.	NM_004700.4(KCNQ4):c.785A>G (p.Asp262Gly) GRCh37: Chr1:41285095 GRCh38: Chr1:40819423	KCNQ4	D262G	not provided	Uncertain significance (Sep 30, 2019)	criteria provided, single submitter
Select item 2142799.	NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) GRCh37: Chr1:41285095 GRCh38: Chr1:40819423	KCNQ4	D262V	Autosomal dominant nonsyndromic hearing loss 2A	Pathogenic (Aug 20, 2015)	no assertion criteria provided
Select item 1693041100.	NM_004700.4(KCNQ4):c.791A>T (p.Asn264Ile) GRCh37: Chr1:41285101 GRCh38: Chr1:40819429	KCNQ4	N264I	not provided	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter

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