4646[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1544601.	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 GRCh37: Chr6:65259548-84136510 GRCh38: Chr6:64549655-83426791	ADGRB3, ADGRB3-DT, B3GAT2, BCKDHB, C6orf147, CD109, CD109-AS1, CGAS, COL12A1, COL19A1, COL9A1, COX7A2, DDX43, DOP1A, DPPA5, EEF1A1, EEF1A1-AS1, ELOVL4, ERVH-3, EYS, FAM135A, FAM135A-AS1, FILIP1, HMGN3, HMGN3-AS1, HTR1B, IBTK, IMPG1, IRAK1BP1, KCNQ5, KCNQ5-AS1, KCNQ5-DT, KCNQ5-IT1, KHDC1, KHDC1-AS1, KHDC1L, KHDC3L, LCA5, LCAL1, LINC00472, LINC01526, LINC01610, LINC01621, LINC01626, LINC02540, LINC02542, LINC02549, LMBRD1, LOC101928516, LOC101928540, LOC102723883, LOC105377858, LOC105377862, LOC113175017, LOC113175018, LOC114004403, LOC114004404, LOC121132691, LOC121132692, LOC121132693, LOC121132694, LOC121132695, LOC121740655, LOC121740656, LOC121740657, LOC122539213, LOC123744837, LOC123744838, LOC123744839, LOC123744840, LOC123744841, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC126859701, LOC126859702, LOC126859703, LOC126859704, LOC126859705, LOC126859706, LOC126859707, LOC126859708, LOC126859709, LOC126859710, LOC126859711, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC127898563, ME1, MEI4, MIR10524, MIR30A, MIR30C2, MIR4282, MIR4463, MTO1, MYO6, OGFRL1, OOEP, OOEP-AS1, ORI343, PGM3, PHIP, RIMS1, RWDD2A, SDHAF4, SENP6, SH3BGRL2, SLC17A5, SMAP1, SNORD156, TENT5A, TMEM30A, TMEM30A-DT, TPBG, TTK, UBE3D, ZC3H11C		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1509372.	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 GRCh37: Chr6:75092523-142361637 GRCh38: Chr6:74382807-142040500	ABRACL, AFG1L, AHI1, AHI1-DT, AK9, AKAP7, AKIRIN2, ALDH8A1, AMD1, ANKRD6, ARFGEF3, ARG1, ARHGAP18, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BACH2, BCKDHB, BCLAF1, BEND3, BVES, BVES-AS1, C6orf163, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CASC6, CASP8AP2, CCDC28A, CCDC28A-AS1, CCN2, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CENPW, CEP162, CEP57L1, CEP85L, CFAP206, CGA, CITED2, CLVS2, CNR1, COL10A1, COL12A1, COQ3, COX7A2, CRE2, CRYBG1, CT69, CTAGE9, CYB5R4, DCBLD1, DDO, DOP1A, DSE, ECHDC1, ECT2L, ELOVL4, ENPP1, ENPP3, EPB41L2, EPHA7, EYA4, FABP7, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FILIP1, FILNC1, FOXO3, FRK, FUT9, FYN, GABRR1, GABRR2, GJA1, GJA10, GJB7, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HBS1L, HDAC2, HDAC2-AS2, HDDC2, HEBP2, HECA, HEY2, HEY2-AS1, HINT3, HMGN3, HMGN3-AS1, HS3ST5, HSF2, HTR1B, HTR1E, IBTK, IFNGR1, IL20RA, IL22RA2, IMPG1, IRAK1BP1, KIAA0408, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LCA5, LCAL1, LIN28B, LIN28B-AS1, LINC00222, LINC00326, LINC01010, LINC01013, LINC01312, LINC01526, LINC01590, LINC01611, LINC01621, LINC01625, LINC02518, LINC02523, LINC02524, LINC02526, LINC02527, LINC02531, LINC02532, LINC02534, LINC02535, LINC02539, LINC02540, LINC02541, LINC02542, LINC02836, LINC02865, LINC02880, LINC02941, LINC03002, LINC03004, LNCPOIR, LOC100126584, LOC100287467, LOC101927314, LOC101927919, LOC101928373, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102723341, LOC102723690, LOC102724646, LOC103352541, LOC105377858, LOC105377862, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC108169207, LOC108228196, LOC108281144, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121132708, LOC121740657, LOC121740658, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC121740667, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC127407129, LOC128092253, LOC128559983, LOC128667231, LOC128669075, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC285762, LYRM2, MAN1A1, MANEA, MANEA-DT, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP3K7, MAP7, MARCKS, MCHR2, MCHR2-AS1, MCM9, MDN1, MDN1-AS1, ME1, MED23, MEI4, METTL24, MFSD4B, MICAL1, MIR10524, MIR2113, MIR3144, MIR3145, MIR3662, MIR3668, MIR4463, MIR4464, MIR4465, MIR4643, MIR548A2, MIR548AI, MIR548AJ1, MIR548B, MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTCL3, MTFR2, MTRES1, MYB, MYO6, NCOA7, NCOA7-AS1, NDUFAF4, NHEG1, NHSL1, NHSL1-AS1, NKAIN2, NR2E1, NT5DC1, NT5E, NUS1, OLIG3, OR2A4, ORC3, OSTM1, OSTM1-AS1, PBOV1, PDE7B, PDE7B-AS1, PDSS2, PERP, PEX7, PGM3, PHIP, PKIB, PLN, PM20D2, PNISR, PNISR-AS1, PNKY, PNRC1, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, PRSS35, PTPRK, PTPRK-AS1, QRSL1, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIPPLY2, RIPPLY2-CYB5R4, RNF146, RNF217, RNF217-AS1, RNGTT, ROS1, RPF2, RPS12, RRAGD, RSPH4A, RSPO3, RTN4IP1, RWDD1, RWDD2A, SAMD3, SCML4, SEC63, SENP6, SERINC1, SESN1, SGK1, SH3BGRL2, SIM1, SIM1-AS1, SIMALR, SLC16A10, SLC18B1, SLC22A16, SLC2A12, SLC35A1, SLC35D3, SLC35F1, SMIM28, SMIM8, SMLR1, SMPD2, SMPDL3A, SNAP91, SNHG5, SNORA33, SNORA40C, SNORD100, SNORD101, SNORD156, SNORD166, SNORD50A, SNORD50B, SNX14, SNX3, SOBP, SOGA3-KIAA0408, SPACA1, SRSF12, STX7, SYNCRIP, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TBPL1, TBX18, TBX18-AS1, TCF21, TENT5A, THEMIS, TMEM200A, TMEM244, TMEM30A, TMEM30A-DT, TNFAIP3, TPBG, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSG1, TSPYL1, TSPYL4, TSTD3, TTK, TUBE1, TXLNB, UBE2J1, UBE3D, UFL1, UFL1-AS1, USP45, VGLL2, VNN1, VNN2, VNN3, WAKMAR2, WASF1, ZBTB24, ZBTB24-DT, ZNF292, ZUP1		See cases	Pathogenic (Jul 5, 2011)	no assertion criteria provided
Select item 1465573.	GRCh38/hg38 6q14.1(chr6:75548198-75783637)x3 GRCh37: Chr6:76257914-76493354 GRCh38: Chr6:75548198-75783637	LOC123775375, MYO6, SENP6		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 1522844.	GRCh38/hg38 6q14.1(chr6:75655832-76509933)x3 GRCh37: Chr6:76365548-77219650 GRCh38: Chr6:75655832-76509933	IMPG1, MYO6, SENP6		See cases	Uncertain significance (Feb 4, 2013)	no assertion criteria provided
Select item 3579845.	NM_004999.3(MYO6):c.-261G>A GRCh37: Chr6:76458927 GRCh38: Chr6:75749210	MYO6		Nonsyndromic Hearing Loss, Dominant, Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3579856.	NM_004999.4(MYO6):c.-225G>C GRCh37: Chr6:76458963 GRCh38: Chr6:75749246	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (May 26, 2021)	criteria provided, conflicting interpretations
Select item 3579867.	NM_004999.4(MYO6):c.-185G>T GRCh37: Chr6:76459003 GRCh38: Chr6:75749286	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3579878.	NM_004999.4(MYO6):c.-49C>G GRCh37: Chr6:76459139 GRCh38: Chr6:75749422	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (May 15, 2021)	criteria provided, conflicting interpretations
Select item 11814809.	NM_004999.4(MYO6):c.-48+42G>T GRCh37: Chr6:76459182 GRCh38: Chr6:75749465	MYO6		not provided	Benign (May 13, 2021)	criteria provided, single submitter
Select item 15412010.	GRCh38/hg38 6q14.1(chr6:75787242-76453312)x3 GRCh37: Chr6:76496959-77163029 GRCh38: Chr6:75787242-76453312	IMPG1, MYO6		See cases	Likely benign (Mar 10, 2014)	no assertion criteria provided
Select item 128104611.	NM_004999.4(MYO6):c.-47-247A>G GRCh37: Chr6:76526971 GRCh38: Chr6:75817254	MYO6		not provided	Benign (Nov 29, 2018)	criteria provided, single submitter
Select item 128741312.	NM_004999.4(MYO6):c.-47-182_-47-179dup GRCh37: Chr6:76527021-76527022 GRCh38: Chr6:75817304-75817305	MYO6		not provided	Benign (Sep 8, 2019)	criteria provided, single submitter
Select item 122700413.	NM_004999.4(MYO6):c.-47-179dup GRCh37: Chr6:76527021-76527022 GRCh38: Chr6:75817304-75817305	MYO6		not provided	Benign (Sep 9, 2019)	criteria provided, single submitter
Select item 119554314.	NM_004999.4(MYO6):c.-47-197C>A GRCh37: Chr6:76527021 GRCh38: Chr6:75817304	MYO6		not provided	Likely benign (Aug 6, 2019)	criteria provided, single submitter
Select item 118798015.	NM_004999.4(MYO6):c.-47-183_-47-179dup GRCh37: Chr6:76527021-76527022 GRCh38: Chr6:75817304-75817305	MYO6		not provided	Likely benign (Sep 19, 2019)	criteria provided, single submitter
Select item 129641316.	NM_004999.4(MYO6):c.-47-182A>G GRCh37: Chr6:76527036 GRCh38: Chr6:75817319	MYO6		not provided	Benign (Aug 13, 2019)	criteria provided, single submitter
Select item 121639817.	NM_004999.4(MYO6):c.-47-175G>A GRCh37: Chr6:76527043 GRCh38: Chr6:75817326	MYO6		not provided	Likely benign (Dec 22, 2018)	criteria provided, single submitter
Select item 129642818.	NM_004999.4(MYO6):c.-47-166G>A GRCh37: Chr6:76527052 GRCh38: Chr6:75817335	MYO6		not provided	Benign (Dec 17, 2018)	criteria provided, single submitter
Select item 119903419.	NM_004999.4(MYO6):c.-47-157C>T GRCh37: Chr6:76527061 GRCh38: Chr6:75817344	MYO6		not provided	Likely benign (Dec 31, 2018)	criteria provided, single submitter
Select item 91167020.	NM_004999.4(MYO6):c.-19C>A GRCh37: Chr6:76527246 GRCh38: Chr6:75817529	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 17956021.	NM_004999.4(MYO6):c.-12CCT[1] GRCh37: Chr6:76527252-76527254 GRCh38: Chr6:75817535-75817537	MYO6		not specified	not provided (Jan 28, 2014)	no assertion provided
Select item 169714822.	NM_004999.4(MYO6):c.4G>A (p.Glu2Lys) GRCh37: Chr6:76527268 GRCh38: Chr6:75817551	MYO6	E2K	not provided	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 22767423.	NM_004999.4(MYO6):c.18C>T (p.Pro6=) GRCh37: Chr6:76527282 GRCh38: Chr6:75817565	MYO6		not provided, not specified	Likely benign (Apr 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91167124.	NM_004999.4(MYO6):c.26C>T (p.Ala9Val) GRCh37: Chr6:76527290 GRCh38: Chr6:75817573	MYO6	A9V	not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Uncertain significance (May 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22767525.	NM_004999.4(MYO6):c.27G>A (p.Ala9=) GRCh37: Chr6:76527291 GRCh38: Chr6:75817574	MYO6		not specified	Likely benign (Jan 29, 2015)	criteria provided, single submitter
Select item 857826.	NM_004999.4(MYO6):c.36dup (p.Thr13fs) GRCh37: Chr6:76527299-76527300 GRCh38: Chr6:75817582-75817583	MYO6	T13fs	Autosomal recessive nonsyndromic hearing loss 37	Pathogenic (May 1, 2003)	no assertion criteria provided
Select item 118856927.	NM_004999.4(MYO6):c.45A>G (p.Gly15=) GRCh37: Chr6:76527309 GRCh38: Chr6:75817592	MYO6		not provided	Likely benign (Jun 16, 2021)	criteria provided, single submitter
Select item 50464128.	NM_004999.4(MYO6):c.52A>G (p.Met18Val) GRCh37: Chr6:76527316 GRCh38: Chr6:75817599	MYO6	M18V	not specified, not provided	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130485229.	NM_004999.4(MYO6):c.61A>G (p.Ile21Val) GRCh37: Chr6:76527325 GRCh38: Chr6:75817608	MYO6	I21V	not provided	Uncertain significance (Apr 29, 2021)	criteria provided, single submitter
Select item 121315630.	NM_004999.4(MYO6):c.61A>T (p.Ile21Phe) GRCh37: Chr6:76527325 GRCh38: Chr6:75817608	MYO6	I21F	not provided	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 93013431.	NM_004999.4(MYO6):c.78del (p.Asp27fs) GRCh37: Chr6:76527339 GRCh38: Chr6:75817622	MYO6	D27fs	Nonsyndromic genetic hearing loss	Likely pathogenic (Nov 26, 2019)	criteria provided, single submitter
Select item 147913632.	NM_004999.4(MYO6):c.91A>G (p.Ile31Val) GRCh37: Chr6:76527355 GRCh38: Chr6:75817638	MYO6	I31V	not provided	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 66672633.	NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) GRCh37: Chr6:76527356 GRCh38: Chr6:75817639	MYO6	I31T	not provided, not specified	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 227466234.	NM_004999.4(MYO6):c.103A>T (p.Asn35Tyr) GRCh37: Chr6:76527367 GRCh38: Chr6:75817650	MYO6	N35Y	Inborn genetic diseases	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 127925235.	NM_004999.4(MYO6):c.118-261_118-259del GRCh37: Chr6:76532235-76532237 GRCh38: Chr6:75822518-75822520	MYO6		not provided	Benign (Dec 21, 2018)	criteria provided, single submitter
Select item 152470436.	NM_004999.4(MYO6):c.140A>G (p.Gln47Arg) GRCh37: Chr6:76532521 GRCh38: Chr6:75822804	MYO6	Q47R	not provided	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 254704537.	NM_004999.4(MYO6):c.162C>G (p.Asp54Glu) GRCh37: Chr6:76532543 GRCh38: Chr6:75822826	MYO6	D54E	Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, single submitter
Select item 45025138.	NM_004999.4(MYO6):c.163A>G (p.Ser55Gly) GRCh37: Chr6:76532544 GRCh38: Chr6:75822827	MYO6	S55G	not provided	Uncertain significance (Jul 13, 2017)	criteria provided, single submitter
Select item 132156939.	NM_004999.4(MYO6):c.166A>G (p.Lys56Glu) GRCh37: Chr6:76532547 GRCh38: Chr6:75822830	MYO6	K56E	not provided	Uncertain significance (May 13, 2021)	criteria provided, single submitter
Select item 66728140.	NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) GRCh37: Chr6:76532559 GRCh38: Chr6:75822842	MYO6	E60Q	not provided, not specified	Uncertain significance (May 14, 2020)	criteria provided, multiple submitters, no conflicts
Select item 126712041.	NM_004999.4(MYO6):c.187+67T>C GRCh37: Chr6:76532635 GRCh38: Chr6:75822918	MYO6		not provided	Benign (Jul 1, 2018)	criteria provided, single submitter
Select item 124453442.	NM_004999.4(MYO6):c.187+151G>A GRCh37: Chr6:76532719 GRCh38: Chr6:75823002	MYO6		not provided	Benign (Mar 29, 2019)	criteria provided, single submitter
Select item 22767343.	NM_004999.4(MYO6):c.188-3T>C GRCh37: Chr6:76538254 GRCh38: Chr6:75828537	MYO6		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 244562844.	NM_004999.4(MYO6):c.188-1G>T GRCh37: Chr6:76538256 GRCh38: Chr6:75828539	MYO6		Autosomal dominant nonsyndromic hearing loss 22	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 90872145.	NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) GRCh37: Chr6:76538258 GRCh38: Chr6:75828541	MYO6	C63W	Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 50568646.	NM_004999.4(MYO6):c.217C>G (p.Leu73Val) GRCh37: Chr6:76538286 GRCh38: Chr6:75828569	MYO6	L73V	not provided, not specified	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 250426247.	NM_004999.4(MYO6):c.221T>C (p.Leu74Pro) GRCh37: Chr6:76538290 GRCh38: Chr6:75828573	MYO6	L74P	not provided	Uncertain significance (Nov 30, 2022)	criteria provided, single submitter
Select item 120406048.	NM_004999.4(MYO6):c.222C>T (p.Leu74=) GRCh37: Chr6:76538291 GRCh38: Chr6:75828574	MYO6		not provided	Likely benign (Apr 29, 2021)	criteria provided, single submitter
Select item 17895749.	NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) GRCh37: Chr6:76538307 GRCh38: Chr6:75828590	MYO6	R80*	Nonsyndromic genetic hearing loss	Pathogenic (Jan 24, 2023)	reviewed by expert panel FDA Recognized Database
Select item 66741250.	NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) GRCh37: Chr6:76538327-76538328 GRCh38: Chr6:75828610-75828611	MYO6	Y87fs	Rare genetic deafness	Likely pathogenic (Dec 14, 2018)	criteria provided, single submitter
Select item 124836551.	NM_004999.4(MYO6):c.261+31G>A GRCh37: Chr6:76538361 GRCh38: Chr6:75828644	MYO6		not provided	Benign (Jul 1, 2018)	criteria provided, single submitter
Select item 128819452.	NM_004999.4(MYO6):c.261+73G>A GRCh37: Chr6:76538403 GRCh38: Chr6:75828686	MYO6		not provided	Benign (Jun 22, 2018)	criteria provided, single submitter
Select item 119961253.	NM_004999.4(MYO6):c.261+129G>C GRCh37: Chr6:76538459 GRCh38: Chr6:75828742	MYO6		not provided	Likely benign (Dec 14, 2018)	criteria provided, single submitter
Select item 128668654.	NM_004999.4(MYO6):c.262-21G>A GRCh37: Chr6:76540112 GRCh38: Chr6:75830395	MYO6		not provided	Benign (Nov 23, 2018)	criteria provided, single submitter
Select item 35798855.	NM_004999.4(MYO6):c.262-12T>G GRCh37: Chr6:76540121 GRCh38: Chr6:75830404	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 35798956.	NM_004999.4(MYO6):c.262-9C>T GRCh37: Chr6:76540124 GRCh38: Chr6:75830407	MYO6		not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 192619757.	NM_004999.4(MYO6):c.264A>G (p.Thr88=) GRCh37: Chr6:76540135 GRCh38: Chr6:75830418	MYO6		not provided	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 51284358.	NM_004999.4(MYO6):c.270C>T (p.Val90=) GRCh37: Chr6:76540141 GRCh38: Chr6:75830424	MYO6		not specified	Likely benign (Oct 26, 2017)	criteria provided, single submitter
Select item 106509059.	NM_004999.4(MYO6):c.271G>A (p.Ala91Thr) GRCh37: Chr6:76540142 GRCh38: Chr6:75830425	MYO6	A91T	Hearing impairment, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207116860.	NM_004999.4(MYO6):c.275A>G (p.Asn92Ser) GRCh37: Chr6:76540146 GRCh38: Chr6:75830429	MYO6	N92S	not provided	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 54700661.	NM_004999.4(MYO6):c.286G>A (p.Ala96Thr) GRCh37: Chr6:76540157 GRCh38: Chr6:75830440	MYO6	A96T	not provided	Uncertain significance (Jun 1, 2018)	criteria provided, single submitter
Select item 130451362.	NM_004999.4(MYO6):c.287C>T (p.Ala96Val) GRCh37: Chr6:76540158 GRCh38: Chr6:75830441	MYO6	A96V	not provided	Uncertain significance (Jan 29, 2019)	criteria provided, single submitter
Select item 22899363.	NM_004999.4(MYO6):c.292A>G (p.Asn98Asp) GRCh37: Chr6:76540163 GRCh38: Chr6:75830446	MYO6	N98D	not specified	Uncertain significance (May 17, 2015)	criteria provided, single submitter
Select item 76429764.	NM_004999.4(MYO6):c.297A>G (p.Pro99=) GRCh37: Chr6:76540168 GRCh38: Chr6:75830451	MYO6		not provided	Likely benign (Aug 15, 2018)	criteria provided, single submitter
Select item 45162465.	NM_004999.4(MYO6):c.344_345del (p.Tyr115fs) GRCh37: Chr6:76540213-76540214 GRCh38: Chr6:75830496-75830497	MYO6	Y115fs	not provided	Pathogenic (Aug 30, 2017)	criteria provided, single submitter
Select item 255703566.	NM_004999.4(MYO6):c.352A>G (p.Lys118Glu) GRCh37: Chr6:76540223 GRCh38: Chr6:75830506	MYO6	K118E	Inborn genetic diseases	Uncertain significance (Jun 6, 2023)	criteria provided, single submitter
Select item 131054767.	NM_004999.4(MYO6):c.391+3_391+6del GRCh37: Chr6:76540263-76540266 GRCh38: Chr6:75830546-75830549	MYO6		not provided	Uncertain significance (Nov 26, 2019)	criteria provided, single submitter
Select item 119063068.	NM_004999.4(MYO6):c.391+158A>G GRCh37: Chr6:76540420 GRCh38: Chr6:75830703	MYO6		not provided	Likely benign (Apr 12, 2019)	criteria provided, single submitter
Select item 167772269.	NM_004999.4(MYO6):c.392C>T (p.Ala131Val) GRCh37: Chr6:76542559 GRCh38: Chr6:75832842	MYO6	A131V	not provided	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 90872270.	NM_004999.4(MYO6):c.406C>A (p.Arg136=) GRCh37: Chr6:76542573 GRCh38: Chr6:75832856	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 172355571.	NM_004999.4(MYO6):c.412A>G (p.Met138Val) GRCh37: Chr6:76542579 GRCh38: Chr6:75832862	MYO6	M138V	not provided	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 90957772.	NM_004999.4(MYO6):c.438T>C (p.Ser146=) GRCh37: Chr6:76542605 GRCh38: Chr6:75832888	MYO6		Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 18008773.	NM_004999.4(MYO6):c.441C>T (p.Ile147=) GRCh37: Chr6:76542608 GRCh38: Chr6:75832891	MYO6		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Jun 14, 2022)	criteria provided, conflicting interpretations
Select item 22837674.	NM_004999.4(MYO6):c.458C>G (p.Ser153Ter) GRCh37: Chr6:76542625 GRCh38: Chr6:75832908	MYO6	S153*	Rare genetic deafness	Pathogenic (Mar 25, 2015)	criteria provided, single submitter
Select item 16463375.	NM_004999.4(MYO6):c.465C>T (p.Ala155=) GRCh37: Chr6:76542632 GRCh38: Chr6:75832915	MYO6		not specified	Likely benign (Jul 15, 2015)	criteria provided, single submitter
Select item 4516276.	NM_004999.4(MYO6):c.470A>G (p.Lys157Arg) GRCh37: Chr6:76542637 GRCh38: Chr6:75832920	MYO6	K157R	not specified	Uncertain significance (Sep 10, 2018)	criteria provided, single submitter
Select item 4516377.	NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) GRCh37: Chr6:76542642 GRCh38: Chr6:75832925	MYO6	E159K	Nonsyndromic genetic hearing loss	Benign (Sep 20, 2018)	reviewed by expert panel FDA Recognized Database
Select item 126507078.	NM_004999.4(MYO6):c.498-239C>T GRCh37: Chr6:76545379 GRCh38: Chr6:75835662	MYO6		not provided	Benign (Dec 31, 2018)	criteria provided, single submitter
Select item 159236979.	NM_004999.4(MYO6):c.498-11A>G GRCh37: Chr6:76545607 GRCh38: Chr6:75835890	MYO6		not provided	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 51750880.	NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) GRCh37: Chr6:76545655 GRCh38: Chr6:75835938	MYO6	D179Y	Rare genetic deafness	Likely pathogenic (Aug 26, 2017)	criteria provided, single submitter
Select item 248716681.	NM_004999.4(MYO6):c.536A>G (p.Asp179Gly) GRCh37: Chr6:76545656 GRCh38: Chr6:75835939	MYO6	D179G	Inborn genetic diseases	Uncertain significance (Feb 22, 2023)	criteria provided, single submitter
Select item 39750882.	NM_004999.4(MYO6):c.548T>A (p.Val183Asp) GRCh37: Chr6:76545668 GRCh38: Chr6:75835951	MYO6	V183D	Autosomal dominant nonsyndromic hearing loss 22	Uncertain significance (Jul 12, 2016)	criteria provided, single submitter
Select item 90957883.	NM_004999.4(MYO6):c.553+10A>G GRCh37: Chr6:76545683 GRCh38: Chr6:75835966	MYO6		not provided, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 4516484.	NM_004999.4(MYO6):c.553+11T>C GRCh37: Chr6:76545684 GRCh38: Chr6:75835967	MYO6		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22767685.	NM_004999.4(MYO6):c.553+13T>A GRCh37: Chr6:76545686 GRCh38: Chr6:75835969	MYO6		not specified	Likely benign (Jun 8, 2015)	criteria provided, single submitter
Select item 219451786.	NM_004999.4(MYO6):c.553+17A>G GRCh37: Chr6:76545690 GRCh38: Chr6:75835973	MYO6		not provided	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 129735787.	NM_004999.4(MYO6):c.553+185A>G GRCh37: Chr6:76545858 GRCh38: Chr6:75836141	MYO6		not provided	Benign (Dec 31, 2018)	criteria provided, single submitter
Select item 121576588.	NM_004999.4(MYO6):c.554-261G>T GRCh37: Chr6:76550041 GRCh38: Chr6:75840324	MYO6		not provided	Likely benign (May 7, 2019)	criteria provided, single submitter
Select item 121562889.	NM_004999.4(MYO6):c.554-191C>T GRCh37: Chr6:76550111 GRCh38: Chr6:75840394	MYO6		not provided	Likely benign (Jan 2, 2019)	criteria provided, single submitter
Select item 118789790.	NM_004999.4(MYO6):c.554-79A>C GRCh37: Chr6:76550223 GRCh38: Chr6:75840506	MYO6		not provided	Likely benign (Jul 1, 2018)	criteria provided, single submitter
Select item 124674091.	NM_004999.4(MYO6):c.554-65A>G GRCh37: Chr6:76550237 GRCh38: Chr6:75840520	MYO6		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 121504092.	NM_004999.4(MYO6):c.554-42C>G GRCh37: Chr6:76550260 GRCh38: Chr6:75840543	MYO6		not provided	Likely benign (Aug 6, 2018)	criteria provided, single submitter
Select item 207366793.	NM_004999.4(MYO6):c.554-4A>G GRCh37: Chr6:76550298 GRCh38: Chr6:75840581	MYO6		not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 167919794.	NM_004999.4(MYO6):c.560del (p.Pro187fs) GRCh37: Chr6:76550306 GRCh38: Chr6:75840589	MYO6	P187fs	Autosomal dominant nonsyndromic hearing loss	Pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 4516595.	NM_004999.4(MYO6):c.558C>A (p.Asn186Lys) GRCh37: Chr6:76550306 GRCh38: Chr6:75840589	MYO6	N186K	not specified	Uncertain significance (May 29, 2012)	criteria provided, single submitter
Select item 35799096.	NM_004999.4(MYO6):c.564C>T (p.Leu188=) GRCh37: Chr6:76550312 GRCh38: Chr6:75840595	MYO6		not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 139292897.	NM_004999.4(MYO6):c.584C>A (p.Ala195Glu) GRCh37: Chr6:76550332 GRCh38: Chr6:75840615	MYO6	A190E, A195E	not provided	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 149910798.	NM_004999.4(MYO6):c.596G>A (p.Arg199His) GRCh37: Chr6:76550344 GRCh38: Chr6:75840627	MYO6	R199H, R194H	not provided	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 4516699.	NM_004999.4(MYO6):c.600C>T (p.Asn200=) GRCh37: Chr6:76550348 GRCh38: Chr6:75840631	MYO6		not specified, not provided, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 357991100.	NM_004999.4(MYO6):c.605A>G (p.Asn202Ser) GRCh37: Chr6:76550353 GRCh38: Chr6:75840636	MYO6	N202S, N197S	Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts

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