| 150493586 | CV1257585 | single nucleotide variant | NM_153212.3(GJB4):c.*60A>C | not provided [RCV001675258] | benign | 1 | 34762115 | 34762115 | Human | | name |
| 10050875 | CV192581 | single nucleotide variant | NM_153212.3(GJB4):c.*17A>G | not provided [RCV001541607]|not specified [RCV000175988] | benign | 1 | 34762072 | 34762072 | Human | | name |
| 150464050 | CV1237721 | single nucleotide variant | NM_153212.3(GJB4):c.-322-278T>C | not provided [RCV001649728] | benign | 1 | 34760655 | 34760655 | Human | | name |
| 405282080 | CV3224674 | deletion | NM_153212.3(GJB4):c.1del (p.Met1*) | Erythrokeratodermia variabilis et progressiva 2 [RCV003989009] | uncertain significance | 1 | 34761255 | 34761255 | Human | 1 | name |
| 401893276 | CV2766366 | single nucleotide variant | NM_153212.3(GJB4):c.7T>C (p.Trp3Arg) | Erythrokeratodermia variabilis et progressiva 2 [RCV005400560]|Inborn genetic diseases [RCV003370595] | uncertain significance | 1 | 34761261 | 34761261 | Human | 2 | name |
| 597847104 | CV3746311 | single nucleotide variant | NM_153212.3(GJB4):c.36C>T (p.Gly12=) | not provided [RCV005060129] | likely benign | 1 | 34761290 | 34761290 | Human | | name |
| 150492802 | CV1238544 | single nucleotide variant | NM_153212.3(GJB4):c.186C>T (p.Asn62=) | not provided [RCV001655088] | benign | 1 | 34761440 | 34761440 | Human | | name |
| 401927436 | CV2812624 | single nucleotide variant | NM_153212.3(GJB4):c.120G>A (p.Ala40=) | not provided [RCV003406316] | likely benign | 1 | 34761374 | 34761374 | Human | | name |
| 405238001 | CV3077834 | single nucleotide variant | NM_153212.3(GJB4):c.294C>T (p.Arg98=) | GJB4-related disorder [RCV003956552]|not provided [RCV003736275] | benign|likely benign | 1 | 34761548 | 34761548 | Human | 1 | name , trait , alternate_id |
| 15112260 | CV707354 | single nucleotide variant | NM_153212.3(GJB4):c.138T>C (p.Asp46=) | not provided [RCV000961270] | benign | 1 | 34761392 | 34761392 | Human | | name |
| 15183265 | CV707355 | single nucleotide variant | NM_153212.3(GJB4):c.183C>A (p.Pro61=) | GJB4-related disorder [RCV003928592]|not provided [RCV000974835] | benign | 1 | 34761437 | 34761437 | Human | 1 | name , trait , alternate_id |
| 15163930 | CV718921 | single nucleotide variant | NM_153212.3(GJB4):c.108C>T (p.Tyr36=) | not provided [RCV000882082] | benign | 1 | 34761362 | 34761362 | Human | | name |
| 15158895 | CV718922 | single nucleotide variant | NM_153212.3(GJB4):c.219C>T (p.His73=) | not provided [RCV000881096] | benign|likely benign | 1 | 34761473 | 34761473 | Human | | name |
| 15171387 | CV718923 | single nucleotide variant | NM_153212.3(GJB4):c.228C>G (p.Leu76=) | not provided [RCV000883644] | benign | 1 | 34761482 | 34761482 | Human | | name |
| 152059504 | CV1559052 | single nucleotide variant | NM_153212.3(GJB4):c.435C>T (p.Phe145=) | not provided [RCV002167828] | likely benign | 1 | 34761689 | 34761689 | Human | | name |
| 156281385 | CV1877100 | single nucleotide variant | NM_153212.3(GJB4):c.37G>A (p.Val13Met) | not provided [RCV003061077] | likely benign | 1 | 34761291 | 34761291 | Human | | name |
| 156399505 | CV1897446 | single nucleotide variant | NM_153212.3(GJB4):c.98T>C (p.Val33Ala) | not provided [RCV002584727] | uncertain significance | 1 | 34761352 | 34761352 | Human | | name |
| 10050874 | CV192579 | single nucleotide variant | NM_153212.3(GJB4):c.495C>T (p.Ser165=) | not provided [RCV000175986] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 34761749 | 34761749 | Human | | name |
| 10048212 | CV192582 | deletion | NM_153212.3(GJB4):c.153del (p.Phe51fs) | Erythrokeratodermia variabilis et progressiva 2 [RCV002505255]|not provided [RCV000964806]|not specified [RCV000175989] | benign|likely benign | 1 | 34761405 | 34761405 | Human | 1 | name |
| 8558424 | CV20046 | single nucleotide variant | NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) | Erythrokeratodermia variabilis et progressiva 2 [RCV000005310]|not provided [RCV001723540] | pathogenic | 1 | 34761289 | 34761289 | Human | 1 | name |
| 8558425 | CV20047 | single nucleotide variant | NM_153212.3(GJB4):c.65G>A (p.Arg22His) | Erythrokeratodermia variabilis et progressiva 2 [RCV000005311]|not provided [RCV001836700] | pathogenic|uncertain significance | 1 | 34761319 | 34761319 | Human | 1 | name |
| 156334852 | CV2230982 | single nucleotide variant | NM_153212.3(GJB4):c.62G>A (p.Ser21Asn) | Inborn genetic diseases [RCV002718430] | uncertain significance | 1 | 34761316 | 34761316 | Human | 1 | name |
| 401735197 | CV2690810 | single nucleotide variant | NM_153212.3(GJB4):c.89T>C (p.Ile30Thr) | Inborn genetic diseases [RCV003249710] | uncertain significance | 1 | 34761343 | 34761343 | Human | 1 | name |
| 405244343 | CV3050572 | single nucleotide variant | NM_153212.3(GJB4):c.94C>T (p.Arg32Cys) | Erythrokeratodermia variabilis et progressiva 2 [RCV005400564]|not provided [RCV003719959] | uncertain significance | 1 | 34761348 | 34761348 | Human | 1 | name |
| 405289779 | CV3219668 | single nucleotide variant | NM_153212.3(GJB4):c.330G>A (p.Gly110=) | GJB4-related disorder [RCV003961959] | likely benign | 1 | 34761584 | 34761584 | Human | | name , trait , alternate_id |
| 405737349 | CV3254984 | single nucleotide variant | NM_153212.3(GJB4):c.69C>G (p.Ile23Met) | Inborn genetic diseases [RCV004390802] | uncertain significance | 1 | 34761323 | 34761323 | Human | 1 | name |
| 407513297 | CV3443261 | single nucleotide variant | NM_153212.3(GJB4):c.95G>C (p.Arg32Pro) | Inborn genetic diseases [RCV004627128] | uncertain significance | 1 | 34761349 | 34761349 | Human | 1 | name |
| 407574582 | CV3499593 | single nucleotide variant | NM_153212.3(GJB4):c.64C>T (p.Arg22Cys) | not provided [RCV004719589] | uncertain significance | 1 | 34761318 | 34761318 | Human | | name |
| 597917914 | CV3844049 | single nucleotide variant | NM_153212.3(GJB4):c.67A>T (p.Ile23Phe) | not provided [RCV005192895] | uncertain significance | 1 | 34761321 | 34761321 | Human | | name |
| 15200971 | CV696695 | single nucleotide variant | NM_153212.3(GJB4):c.369G>A (p.Lys123=) | GJB4-related disorder [RCV003903304]|not provided [RCV000957486] | likely benign | 1 | 34761623 | 34761623 | Human | 1 | name , trait , alternate_id |
| 15112271 | CV707359 | single nucleotide variant | NM_153212.3(GJB4):c.303C>G (p.Arg101=) | not provided [RCV000961272] | benign | 1 | 34761557 | 34761557 | Human | | name |
| 15112277 | CV707360 | single nucleotide variant | NM_153212.3(GJB4):c.516T>C (p.Thr172=) | not provided [RCV000961273] | benign | 1 | 34761770 | 34761770 | Human | | name |
| 15171393 | CV718925 | single nucleotide variant | NM_153212.3(GJB4):c.627G>A (p.Val209=) | not provided [RCV000883645] | benign | 1 | 34761881 | 34761881 | Human | | name |
| 15149774 | CV732401 | single nucleotide variant | NM_153212.3(GJB4):c.411C>T (p.Phe137=) | not provided [RCV000901008] | likely benign | 1 | 34761665 | 34761665 | Human | | name |
| 15187951 | CV732402 | single nucleotide variant | NM_153212.3(GJB4):c.699G>A (p.Thr233=) | not provided [RCV000909231] | benign | 1 | 34761953 | 34761953 | Human | | name |
| 15197489 | CV746442 | single nucleotide variant | NM_153212.3(GJB4):c.693C>T (p.Pro231=) | not provided [RCV000911987] | benign | 1 | 34761947 | 34761947 | Human | | name |
| 15102729 | CV761890 | single nucleotide variant | NM_153212.3(GJB4):c.417C>T (p.Ala139=) | not provided [RCV000937049] | likely benign | 1 | 34761671 | 34761671 | Human | | name |
| 15186471 | CV761891 | single nucleotide variant | NM_153212.3(GJB4):c.480C>T (p.Arg160=) | not provided [RCV000931363] | likely benign | 1 | 34761734 | 34761734 | Human | | name |
| 8629507 | CV84654 | single nucleotide variant | NM_153212.2(GJB4):c.321G>A (p.Leu107=) | Malignant melanoma [RCV000064736] | not provided | 1 | 34761575 | 34761575 | Human | | name |
| 150530663 | CV1293418 | single nucleotide variant | NM_153212.3(GJB4):c.292C>T (p.Arg98Cys) | not provided [RCV001756639]|not specified [RCV002246472] | uncertain significance | 1 | 34761546 | 34761546 | Human | | name |
| 151768165 | CV1394064 | single nucleotide variant | NM_153212.3(GJB4):c.215C>T (p.Ser72Phe) | not provided [RCV002008588] | uncertain significance | 1 | 34761469 | 34761469 | Human | | name |
| 152066546 | CV1659937 | single nucleotide variant | NM_153212.3(GJB4):c.178T>G (p.Cys60Gly) | Erythrokeratodermia variabilis et progressiva 2 [RCV003328527]|Inborn genetic diseases [RCV003025479]|not provided [RCV002147500] | likely benign|uncertain significance | 1 | 34761432 | 34761432 | Human | 2 | name |
| 155731084 | CV1780955 | single nucleotide variant | NM_153212.3(GJB4):c.128T>C (p.Val43Ala) | not provided [RCV002308743] | uncertain significance | 1 | 34761382 | 34761382 | Human | | name |
| 156438684 | CV1947299 | single nucleotide variant | NM_153212.3(GJB4):c.187G>A (p.Val63Ile) | not provided [RCV003108630] | uncertain significance | 1 | 34761441 | 34761441 | Human | | name |
| 8558423 | CV20045 | single nucleotide variant | NM_153212.3(GJB4):c.253A>C (p.Thr85Pro) | Erythrokeratodermia variabilis et progressiva 2 [RCV000005309]|not provided [RCV000413053] | pathogenic | 1 | 34761507 | 34761507 | Human | 1 | name |
| 12907405 | CV227213 | single nucleotide variant | NM_153212.3(GJB4):c.109G>A (p.Val37Met) | Autosomal recessive nonsyndromic hearing loss 1A [RCV000490427]|not provided [RCV002054359] | benign|uncertain significance | 1 | 34761363 | 34761363 | Human | 2 | name |
| 156183058 | CV2382194 | single nucleotide variant | NM_153212.3(GJB4):c.139G>A (p.Glu47Lys) | Inborn genetic diseases [RCV002699495] | uncertain significance | 1 | 34761393 | 34761393 | Human | 1 | name |
| 329349755 | CV2477184 | single nucleotide variant | NM_153212.3(GJB4):c.154G>A (p.Val52Ile) | not provided [RCV003221509] | uncertain significance | 1 | 34761408 | 34761408 | Human | | name |
| 401718287 | CV2672381 | single nucleotide variant | NM_153212.3(GJB4):c.121G>A (p.Glu41Lys) | Erythrokeratodermia variabilis et progressiva 2 [RCV003239280] | uncertain significance | 1 | 34761375 | 34761375 | Human | 1 | name |
| 405120069 | CV2891740 | single nucleotide variant | NM_153212.3(GJB4):c.283G>A (p.Val95Met) | not provided [RCV003558996] | uncertain significance | 1 | 34761537 | 34761537 | Human | | name |
| 405090462 | CV3134431 | single nucleotide variant | NM_153212.3(GJB4):c.250G>T (p.Val84Phe) | not provided [RCV003834777] | uncertain significance | 1 | 34761504 | 34761504 | Human | | name |
| 405737319 | CV3254979 | single nucleotide variant | NM_153212.3(GJB4):c.223C>A (p.Arg75Ser) | Inborn genetic diseases [RCV004390797] | uncertain significance | 1 | 34761477 | 34761477 | Human | 1 | name |
| 405737323 | CV3254980 | single nucleotide variant | NM_153212.3(GJB4):c.293G>A (p.Arg98His) | Inborn genetic diseases [RCV004390798] | uncertain significance | 1 | 34761547 | 34761547 | Human | 1 | name |
| 407513303 | CV3443265 | single nucleotide variant | NM_153212.3(GJB4):c.219C>G (p.His73Gln) | Inborn genetic diseases [RCV004627132] | uncertain significance | 1 | 34761473 | 34761473 | Human | 1 | name |
| 407513308 | CV3443268 | single nucleotide variant | NM_153212.3(GJB4):c.155T>C (p.Val52Ala) | Inborn genetic diseases [RCV004627135] | uncertain significance | 1 | 34761409 | 34761409 | Human | 1 | name |
| 598219513 | CV3895674 | deletion | NM_153212.3(GJB4):c.542del (p.Thr181fs) | Erythrokeratodermia variabilis et progressiva 2 [RCV005360509] | uncertain significance | 1 | 34761796 | 34761796 | Human | 1 | name |
| 598220613 | CV3977717 | single nucleotide variant | NM_153212.3(GJB4):c.124G>A (p.Glu42Lys) | Inborn genetic diseases [RCV005340479] | uncertain significance | 1 | 34761378 | 34761378 | Human | 1 | name |
| 15112266 | CV707356 | single nucleotide variant | NM_153212.3(GJB4):c.207C>G (p.Phe69Leu) | not provided [RCV000961271] | benign | 1 | 34761461 | 34761461 | Human | | name |
| 15130066 | CV707357 | single nucleotide variant | NM_153212.3(GJB4):c.224G>A (p.Arg75His) | GJB4-related disorder [RCV003970845]|not provided [RCV000964369] | benign | 1 | 34761478 | 34761478 | Human | 1 | name , trait , alternate_id |
| 15132624 | CV707358 | single nucleotide variant | NM_153212.3(GJB4):c.238C>T (p.Gln80Ter) | Erythrokeratodermia variabilis et progressiva 2 [RCV002489377]|GJB4-related disorder [RCV003916164]|not provided [RCV000964807] | benign|likely benign | 1 | 34761492 | 34761492 | Human | 1 | name , trait , alternate_id |
| 15185219 | CV732400 | single nucleotide variant | NM_153212.3(GJB4):c.223C>T (p.Arg75Cys) | not provided [RCV000908467] | benign | 1 | 34761477 | 34761477 | Human | | name |
| 126762656 | CV1002753 | single nucleotide variant | NM_153212.3(GJB4):c.370C>T (p.Arg124Trp) | not provided [RCV001319000] | uncertain significance | 1 | 34761624 | 34761624 | Human | | name |
| 150516655 | CV1227172 | single nucleotide variant | NM_153212.3(GJB4):c.451C>A (p.Arg151Ser) | not provided [RCV001639270] | benign | 1 | 34761705 | 34761705 | Human | | name |
| 152042566 | CV1538010 | single nucleotide variant | NM_153212.3(GJB4):c.542C>T (p.Thr181Met) | not provided [RCV002165881] | benign | 1 | 34761796 | 34761796 | Human | | name |
| 152176327 | CV1541531 | single nucleotide variant | NM_153212.3(GJB4):c.568A>T (p.Met190Leu) | not provided [RCV002164472]|not specified [RCV002246691] | likely benign|uncertain significance | 1 | 34761822 | 34761822 | Human | | name |
| 152100820 | CV1664192 | single nucleotide variant | NM_153212.3(GJB4):c.307C>T (p.Arg103Cys) | not provided [RCV002078968] | benign | 1 | 34761561 | 34761561 | Human | | name |
| 155644651 | CV1710330 | single nucleotide variant | NM_153212.3(GJB4):c.587T>C (p.Ile196Thr) | not provided [RCV002293626] | uncertain significance | 1 | 34761841 | 34761841 | Human | | name |
| 155720134 | CV1781231 | single nucleotide variant | NM_153212.3(GJB4):c.763G>C (p.Ala255Pro) | Inborn genetic diseases [RCV005350941]|not provided [RCV002306307] | uncertain significance | 1 | 34762017 | 34762017 | Human | 1 | name |
| 10048211 | CV192580 | single nucleotide variant | NM_153212.3(GJB4):c.611A>C (p.Glu204Ala) | not provided [RCV001640268]|not specified [RCV000175987] | benign | 1 | 34761865 | 34761865 | Human | | name |
| 8558421 | CV20043 | single nucleotide variant | NM_153212.3(GJB4):c.409T>C (p.Phe137Leu) | Erythrokeratodermia variabilis et progressiva 2 [RCV000005307]|not provided [RCV003332075] | pathogenic|likely pathogenic | 1 | 34761663 | 34761663 | Human | 1 | name |
| 8558422 | CV20044 | single nucleotide variant | NM_153212.3(GJB4):c.411C>A (p.Phe137Leu) | Erythrokeratodermia variabilis et progressiva 2 [RCV000005308] | pathogenic | 1 | 34761665 | 34761665 | Human | 1 | name |
| 8558426 | CV20048 | single nucleotide variant | NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr) | Erythrokeratodermia variabilis et progressiva 2 [RCV000005312] | pathogenic | 1 | 34761820 | 34761820 | Human | 1 | name |
| 156053675 | CV2192566 | single nucleotide variant | NM_153212.3(GJB4):c.479G>A (p.Arg160His) | Inborn genetic diseases [RCV003340597]|not provided [RCV003036999] | uncertain significance | 1 | 34761733 | 34761733 | Human | 1 | name |
| 156380597 | CV2208283 | single nucleotide variant | NM_153212.3(GJB4):c.730C>T (p.His244Tyr) | Inborn genetic diseases [RCV002722431] | uncertain significance | 1 | 34761984 | 34761984 | Human | 1 | name |
| 156275655 | CV2290689 | single nucleotide variant | NM_153212.3(GJB4):c.749C>G (p.Ser250Cys) | Inborn genetic diseases [RCV002896190] | uncertain significance | 1 | 34762003 | 34762003 | Human | 1 | name |
| 156059574 | CV2305337 | single nucleotide variant | NM_153212.3(GJB4):c.552G>T (p.Lys184Asn) | Inborn genetic diseases [RCV002911697] | uncertain significance | 1 | 34761806 | 34761806 | Human | 1 | name |
| 155921244 | CV2340421 | single nucleotide variant | NM_153212.3(GJB4):c.304G>A (p.Glu102Lys) | Inborn genetic diseases [RCV002969423]|not provided [RCV004593197] | uncertain significance | 1 | 34761558 | 34761558 | Human | 1 | name |
| 155930274 | CV2361105 | single nucleotide variant | NM_153212.3(GJB4):c.509C>T (p.Pro170Leu) | Inborn genetic diseases [RCV002684064] | uncertain significance | 1 | 34761763 | 34761763 | Human | 1 | name |
| 156008530 | CV2365278 | single nucleotide variant | NM_153212.3(GJB4):c.431G>T (p.Gly144Val) | Inborn genetic diseases [RCV002997594] | uncertain significance | 1 | 34761685 | 34761685 | Human | 1 | name |
| 156053883 | CV2385668 | single nucleotide variant | NM_153212.3(GJB4):c.484G>A (p.Val162Met) | Inborn genetic diseases [RCV002705114] | uncertain significance | 1 | 34761738 | 34761738 | Human | 1 | name |
| 329356194 | CV2430627 | single nucleotide variant | NM_153212.3(GJB4):c.314A>G (p.His105Arg) | Inborn genetic diseases [RCV003178090] | uncertain significance | 1 | 34761568 | 34761568 | Human | 1 | name |
| 11525643 | CV246884 | single nucleotide variant | NM_153212.3(GJB4):c.507C>G (p.Cys169Trp) | GJB4-related disorder [RCV003977709]|not provided [RCV002057269]|not specified [RCV000238662] | benign | 1 | 34761761 | 34761761 | Human | 1 | name , trait , alternate_id |
| 401760837 | CV2715949 | single nucleotide variant | NM_153212.3(GJB4):c.680G>A (p.Arg227Gln) | Inborn genetic diseases [RCV003299651] | uncertain significance | 1 | 34761934 | 34761934 | Human | 1 | name |
| 401737637 | CV2718158 | single nucleotide variant | NM_153212.3(GJB4):c.496G>A (p.Val166Met) | Inborn genetic diseases [RCV003273473] | uncertain significance | 1 | 34761750 | 34761750 | Human | 1 | name |
| 401797377 | CV2740944 | single nucleotide variant | NM_153212.3(GJB4):c.637T>C (p.Cys213Arg) | not provided [RCV003322108] | uncertain significance | 1 | 34761891 | 34761891 | Human | | name |
| 401873745 | CV2772743 | single nucleotide variant | NM_153212.3(GJB4):c.449A>G (p.His150Arg) | Inborn genetic diseases [RCV003362067] | uncertain significance | 1 | 34761703 | 34761703 | Human | 1 | name |
| 405115336 | CV3134112 | single nucleotide variant | NM_153212.3(GJB4):c.511C>A (p.His171Asn) | not provided [RCV003836714] | uncertain significance | 1 | 34761765 | 34761765 | Human | | name |
| 405255369 | CV3172350 | single nucleotide variant | NM_153212.3(GJB4):c.653G>A (p.Gly218Asp) | not provided [RCV003872288] | uncertain significance | 1 | 34761907 | 34761907 | Human | | name |
| 405656694 | CV3227949 | single nucleotide variant | NM_153212.3(GJB4):c.507C>A (p.Cys169Ter) | Erythrokeratodermia variabilis et progressiva 2 [RCV003994691] | uncertain significance | 1 | 34761761 | 34761761 | Human | 1 | name |
| 405737328 | CV3254981 | single nucleotide variant | NM_153212.3(GJB4):c.508C>T (p.Pro170Ser) | Inborn genetic diseases [RCV004390799] | uncertain significance | 1 | 34761762 | 34761762 | Human | 1 | name |
| 405737337 | CV3254982 | single nucleotide variant | NM_153212.3(GJB4):c.586A>G (p.Ile196Val) | Inborn genetic diseases [RCV004390800] | uncertain significance | 1 | 34761840 | 34761840 | Human | 1 | name |
| 405737343 | CV3254983 | single nucleotide variant | NM_153212.3(GJB4):c.667C>T (p.Arg223Trp) | Inborn genetic diseases [RCV004390801] | uncertain significance | 1 | 34761921 | 34761921 | Human | 1 | name |
| 407427489 | CV3411914 | single nucleotide variant | NM_153212.3(GJB4):c.770C>T (p.Ser257Leu) | Inborn genetic diseases [RCV004987181]|not provided [RCV004592085] | uncertain significance | 1 | 34762024 | 34762024 | Human | 1 | name |
| 407513298 | CV3443262 | single nucleotide variant | NM_153212.3(GJB4):c.418G>A (p.Ala140Thr) | Inborn genetic diseases [RCV004627129] | uncertain significance | 1 | 34761672 | 34761672 | Human | 1 | name |
| 407513300 | CV3443263 | single nucleotide variant | NM_153212.3(GJB4):c.694G>A (p.Asp232Asn) | Inborn genetic diseases [RCV004627130] | uncertain significance | 1 | 34761948 | 34761948 | Human | 1 | name |
| 407513301 | CV3443264 | single nucleotide variant | NM_153212.3(GJB4):c.341C>T (p.Pro114Leu) | Inborn genetic diseases [RCV004627131] | uncertain significance | 1 | 34761595 | 34761595 | Human | 1 | name |
| 407513304 | CV3443266 | single nucleotide variant | NM_153212.3(GJB4):c.538C>T (p.Pro180Ser) | Inborn genetic diseases [RCV004627133] | uncertain significance | 1 | 34761792 | 34761792 | Human | 1 | name |
| 407513307 | CV3443267 | single nucleotide variant | NM_153212.3(GJB4):c.308G>C (p.Arg103Pro) | Inborn genetic diseases [RCV004627134] | uncertain significance | 1 | 34761562 | 34761562 | Human | 1 | name |
| 408392421 | CV3525230 | single nucleotide variant | NM_153212.3(GJB4):c.569T>C (p.Met190Thr) | not provided [RCV004771116] | uncertain significance | 1 | 34761823 | 34761823 | Human | | name |
| 597679857 | CV3684602 | single nucleotide variant | NM_153212.3(GJB4):c.511C>T (p.His171Tyr) | Inborn genetic diseases [RCV004982548] | uncertain significance | 1 | 34761765 | 34761765 | Human | 1 | name |
| 597679860 | CV3684604 | single nucleotide variant | NM_153212.3(GJB4):c.656C>A (p.Pro219His) | Inborn genetic diseases [RCV004982549] | uncertain significance | 1 | 34761910 | 34761910 | Human | 1 | name |
| 597838067 | CV3763500 | single nucleotide variant | NM_153212.3(GJB4):c.302G>A (p.Arg101His) | not provided [RCV005111080] | likely benign | 1 | 34761556 | 34761556 | Human | | name |
| 598251808 | CV3977714 | single nucleotide variant | NM_153212.3(GJB4):c.641T>G (p.Met214Arg) | Inborn genetic diseases [RCV005345972] | uncertain significance | 1 | 34761895 | 34761895 | Human | 1 | name |
| 598251817 | CV3977716 | single nucleotide variant | NM_153212.3(GJB4):c.308G>A (p.Arg103His) | Inborn genetic diseases [RCV005345974] | uncertain significance | 1 | 34761562 | 34761562 | Human | 1 | name |
| 13528260 | CV513242 | single nucleotide variant | NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) | Erythrokeratodermia variabilis et progressiva 1 [RCV000625934]|Erythrokeratodermia variabilis et progressiva 2 [RCV002248829]|not provided [RCV003222066] | pathogenic|likely pathogenic|uncertain significance | 1 | 34761640 | 34761640 | Human | 2 | name |
| 15190778 | CV696696 | single nucleotide variant | NM_153212.3(GJB4):c.384G>A (p.Trp128Ter) | Erythrokeratodermia variabilis et progressiva 2 [RCV005400480]|not provided [RCV000954577] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity | 1 | 34761638 | 34761638 | Human | 1 | name |
| 15181660 | CV718924 | single nucleotide variant | NM_153212.3(GJB4):c.371G>A (p.Arg124Gln) | GJB4-related disorder [RCV003930660]|not provided [RCV000885816] | likely benign | 1 | 34761625 | 34761625 | Human | 1 | name , trait , alternate_id |
| 8629508 | CV84655 | single nucleotide variant | NM_153212.2(GJB4):c.544G>A (p.Glu182Lys) | Malignant melanoma [RCV000064737] | not provided | 1 | 34761798 | 34761798 | Human | | name |
| 150466927 | CV1268855 | deletion | NM_153212.3(GJB4):c.155_158del (p.Val52fs) | not provided [RCV001694552] | benign | 1 | 34761407 | 34761410 | Human | | name |
| 405196017 | CV2975940 | deletion | NM_153212.3(GJB4):c.50_151del (p.Ser17_Asp50del) | not provided [RCV003677665] | uncertain significance | 1 | 34761301 | 34761402 | Human | | name |
