| - GRCh37:
- Chr1:24707696-41886350
- GRCh38:
- Chr1:24381206-41401517
| A3GALT2, ADGRB2, ADPRS, AGO1, AGO3, AGO4, AHDC1, AIRIM, AK2, AKIRIN1, ARID1A, ATP5IF1, AUNIP, AZIN2, BMP8A, BMP8B, BSDC1, C1orf122, C1orf216, C1orf232, C1orf94, CAP1, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, CITED4, CLIC4, CLSPN, CNKSR1, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, CSMD2, CSMD2-AS1, CTPS1, DCDC2B, DHDDS, DHDDS-AS1, DLGAP3, DNAJC8, DNALI1, EIF3I, EPB41, EPHA10, EVA1B, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, FAM167B, FAM229A, FAM76A, FCN3, FGR, FHL3, FNDC5, FOXO6, FOXO6-AS1, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, HCRTR1, HDAC1, HEYL, HMGB4, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0319L, KIAA0754, KPNA6, LAPTM5, LCK, LDLRAP1, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, LINC01778, LINC02574, LINC02811, LITATS1, LOC101928728, LOC101929536, LOC107988049, LOC108254669, LOC109851610, LOC110120621, LOC110120729, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC110594336, LOC111464991, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC112577584, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC113939988, LOC114803468, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC121725005, 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, LOC400748, 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, NHSL3, 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 |
| - GRCh37:
- Chr1:35219539-36520911
- GRCh38:
- Chr1:34753938-36055310
| AGO1, AGO3, AGO4, C1orf216, CLSPN, DLGAP3, GJA4, GJB3, GJB4, GJB5, GPR199P, KIAA0319L, LOC112577585, LOC120893129, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC126805694, LOC126805695, LOC126805696, NCDN, PSMB2, SFPQ, SMIM12, TFAP2E, TFAP2E-AS1, TMEM35B, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6 | | See cases | Likely pathogenic
(Jan 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:35246799
- GRCh38:
- Chr1:34781198
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35246925
- GRCh38:
- Chr1:34781324
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35246928
- GRCh38:
- Chr1:34781327
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35246998
- GRCh38:
- Chr1:34781397
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247006
- GRCh38:
- Chr1:34781405
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247007
- GRCh38:
- Chr1:34781406
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247022
- GRCh38:
- Chr1:34781421
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247098
- GRCh38:
- Chr1:34781497
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247112
- GRCh38:
- Chr1:34781511
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247120
- GRCh38:
- Chr1:34781519
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247174
- GRCh38:
- Chr1:34781573
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247228
- GRCh38:
- Chr1:34781627
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247246
- GRCh38:
- Chr1:34781645
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247255
- GRCh38:
- Chr1:34781654
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247264
- GRCh38:
- Chr1:34781663
| GJB3 | | not provided, Erythrokeratodermia variabilis et progressiva 1 | Benign
(Dec 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35247312
- GRCh38:
- Chr1:34781711
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247335
- GRCh38:
- Chr1:34781734
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35247365
- GRCh38:
- Chr1:34781764
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250293
- GRCh38:
- Chr1:34784692
| GJB3 | | not provided | Benign
(Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250346
- GRCh38:
- Chr1:34784745
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250360
- GRCh38:
- Chr1:34784759
| GJB3 | | not provided, not specified | Conflicting interpretations of pathogenicity
(Mar 25, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250361
- GRCh38:
- Chr1:34784760
| GJB3 | | not provided, Erythrokeratodermia variabilis et progressiva 1 | Conflicting interpretations of pathogenicity
(Jun 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250371
- GRCh38:
- Chr1:34784770
| GJB3 | W3* | Autosomal recessive nonsyndromic hearing loss 1A | Pathogenic
(Feb 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:35250396
- GRCh38:
- Chr1:34784795
| GJB3 | | not provided | Likely benign
(Jun 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250397
- GRCh38:
- Chr1:34784796
| GJB3 | G12R | Erythrokeratodermia variabilis et progressiva 1 | Pathogenic
(Dec 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr1:35250398
- GRCh38:
- Chr1:34784797
| GJB3 | G12D | not provided | Pathogenic
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250416
- GRCh38:
- Chr1:34784815
| GJB3 | T18I | not provided | Uncertain significance
(Feb 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250420
- GRCh38:
- Chr1:34784819
| GJB3 | | not provided | Likely benign
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250424
- GRCh38:
- Chr1:34784823
| GJB3 | G21R | Erythrokeratodermia variabilis et progressiva 1, not provided | Conflicting interpretations of pathogenicity
(Jul 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250427
- GRCh38:
- Chr1:34784826
| GJB3 | R22C | not provided, not specified | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250428
- GRCh38:
- Chr1:34784827
| GJB3 | R22L | Inborn genetic diseases | Uncertain significance
(May 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250428
- GRCh38:
- Chr1:34784827
| GJB3 | R22H | not provided | Uncertain significance
(Feb 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250442
- GRCh38:
- Chr1:34784841
| GJB3 | V27M | Erythrokeratodermia variabilis et progressiva 1, not provided | Uncertain significance
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250457
- GRCh38:
- Chr1:34784856
| GJB3 | R32W | not specified, not provided, Erythrokeratodermia variabilis et progressiva 1
| Benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250462
- GRCh38:
- Chr1:34784861
| GJB3 | | not specified | Likely benign
(Jul 17, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250464
- GRCh38:
- Chr1:34784863
| GJB3 | L34P | Erythrokeratodermia variabilis et progressiva 1 | Pathogenic
(May 15, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr1:35250467
- GRCh38:
- Chr1:34784866
| GJB3 | V35A | not provided | Uncertain significance
(Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250472
- GRCh38:
- Chr1:34784871
| GJB3 | V37L | not provided | Uncertain significance
(Apr 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250472
- GRCh38:
- Chr1:34784871
| GJB3 | V37M | not specified, not provided | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250473
- GRCh38:
- Chr1:34784872
| GJB3 | V37E | not provided | Likely pathogenic
(Oct 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250486
- GRCh38:
- Chr1:34784885
| GJB3 | E41D | not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250488
- GRCh38:
- Chr1:34784887
| GJB3 | R42P | Erythrokeratodermia variabilis et progressiva 1 | Pathogenic
(Mar 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr1:35250489
- GRCh38:
- Chr1:34784888
| GJB3 | | not provided, Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Nov 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250493
- GRCh38:
- Chr1:34784892
| GJB3 | W44fs | not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250493
- GRCh38:
- Chr1:34784892
| GJB3 | W44R | not provided | Uncertain significance
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250495
- GRCh38:
- Chr1:34784894
| GJB3 | W44* | not provided | Uncertain significance
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250497
- GRCh38:
- Chr1:34784896
| GJB3 | G45A | not provided | Likely pathogenic
(Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250528
- GRCh38:
- Chr1:34784927
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250529
- GRCh38:
- Chr1:34784928
| GJB3 | K56Q | not provided | Uncertain significance
(Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250537
- GRCh38:
- Chr1:34784936
| GJB3 | | not provided | Likely benign
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250538
- GRCh38:
- Chr1:34784937
| GJB3 | G59S | not provided | Uncertain significance
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250540
- GRCh38:
- Chr1:34784939
| GJB3 | | not provided | Likely benign
(Nov 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250549
- GRCh38:
- Chr1:34784948
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Benign
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250550
- GRCh38:
- Chr1:34784949
| GJB3 | V63I | not provided | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250557-35250559
- GRCh38:
- Chr1:34784956-34784958
| GJB3 | D66del | not specified, not provided, Hearing impairment
| Conflicting interpretations of pathogenicity
(Nov 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250559
- GRCh38:
- Chr1:34784958
| GJB3 | D66N | not provided | Uncertain significance
(Jul 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250560
- GRCh38:
- Chr1:34784959
| GJB3 | D66G | not provided | Uncertain significance
(Jun 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250582
- GRCh38:
- Chr1:34784981
| GJB3 | N73K | not provided | Uncertain significance
(Apr 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250586
- GRCh38:
- Chr1:34784985
| GJB3 | R75C | Erythrokeratodermia variabilis et progressiva 1, not provided | Conflicting interpretations of pathogenicity
(Aug 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250587
- GRCh38:
- Chr1:34784986
| GJB3 | R75H | not provided | Uncertain significance
(Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250596
- GRCh38:
- Chr1:34784995
| GJB3 | A78D | not provided | Uncertain significance
(Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250598
- GRCh38:
- Chr1:34784997
| GJB3 | | not provided | Likely benign
(Dec 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250602
- GRCh38:
- Chr1:34785001
| GJB3 | Q80R | Inborn genetic diseases | Uncertain significance
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250604
- GRCh38:
- Chr1:34785003
| GJB3 | L81V | not provided | Uncertain significance
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250610
- GRCh38:
- Chr1:34785009
| GJB3 | F83L | not provided | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250612
- GRCh38:
- Chr1:34785011
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250613
- GRCh38:
- Chr1:34785012
| GJB3 | V84I | Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A,
not provided, Erythrokeratodermia variabilis et progressiva 1 | Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250619
- GRCh38:
- Chr1:34785018
| GJB3 | C86S | Erythrokeratodermia variabilis et progressiva 1 | Pathogenic
(Dec 1, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr1:35250627
- GRCh38:
- Chr1:34785026
| GJB3 | | not specified, Erythrokeratodermia variabilis et progressiva 1, not provided
| Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250645
- GRCh38:
- Chr1:34785044
| GJB3 | | not provided | Likely benign
(Jun 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250646
- GRCh38:
- Chr1:34785045
| GJB3 | V95M | not provided | Uncertain significance
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250655
- GRCh38:
- Chr1:34785054
| GJB3 | R98C | not provided | Uncertain significance
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250656
- GRCh38:
- Chr1:34785055
| GJB3 | R98H | Inborn genetic diseases, not specified, not provided,
Erythrokeratodermia variabilis et progressiva 1 | Conflicting interpretations of pathogenicity
(Jun 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250658
- GRCh38:
- Chr1:34785057
| GJB3 | E99K | not provided | Uncertain significance
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250660
- GRCh38:
- Chr1:34785059
| GJB3 | | not provided | Likely benign
(Apr 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250661
- GRCh38:
- Chr1:34785060
| GJB3 | E100K | not provided | Likely pathogenic
(Jul 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250665
- GRCh38:
- Chr1:34785064
| GJB3 | R101Q | not provided | Uncertain significance
(Dec 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250674
- GRCh38:
- Chr1:34785073
| GJB3 | R104Q | not provided | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250676
- GRCh38:
- Chr1:34785075
| GJB3 | H105N | not specified, not provided | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250679
- GRCh38:
- Chr1:34785078
| GJB3 | R106C | not provided, Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1
| Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250680
- GRCh38:
- Chr1:34785079
| GJB3 | R106H | Erythrokeratodermia variabilis et progressiva 1 | Likely benign
(Sep 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250684
- GRCh38:
- Chr1:34785083
| GJB3 | Q107H | not provided | Uncertain significance
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250688
- GRCh38:
- Chr1:34785087
| GJB3 | H109N | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:35250691
- GRCh38:
- Chr1:34785090
| GJB3 | G110R | not provided | Uncertain significance
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250697
- GRCh38:
- Chr1:34785096
| GJB3 | Q112K | not provided | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250700
- GRCh38:
- Chr1:34785099
| GJB3 | C113R | not provided | Uncertain significance
(Jul 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250703
- GRCh38:
- Chr1:34785102
| GJB3 | A114T | not specified, not provided, Erythrokeratodermia variabilis et progressiva 1
| Conflicting interpretations of pathogenicity
(Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250704
- GRCh38:
- Chr1:34785103
| GJB3 | A114V | not provided | Uncertain significance
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250704
- GRCh38:
- Chr1:34785103
| GJB3 | A114D | not provided | Uncertain significance
(Oct 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250704
- GRCh38:
- Chr1:34785103
| GJB3 | K115fs | Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B,
not provided | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250707
- GRCh38:
- Chr1:34785106
| GJB3 | K115T | not provided | Uncertain significance
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250710
- GRCh38:
- Chr1:34785109
| GJB3 | L116R | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250715
- GRCh38:
- Chr1:34785114
| GJB3 | D118N | not provided | Uncertain significance
(Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250720
- GRCh38:
- Chr1:34785119
| GJB3 | | not specified, not provided, Erythrokeratodermia variabilis et progressiva 1,
Autosomal dominant nonsyndromic hearing loss 2B | Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250735
- GRCh38:
- Chr1:34785134
| GJB3 | | not specified, not provided, Erythrokeratodermia variabilis et progressiva 1
| Benign/Likely benign
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250736
- GRCh38:
- Chr1:34785135
| GJB3 | G125R | not provided | Uncertain significance
(Dec 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250742
- GRCh38:
- Chr1:34785141
| GJB3 | | Erythrokeratodermia variabilis et progressiva 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:35250742-35250750
- GRCh38:
- Chr1:34785141-34785149
| GJB3 | L127fs | not provided | Uncertain significance
(Dec 13, 2016) | criteria provided, single submitter |