| 11600517 | CV321447 | single nucleotide variant | NM_004452.4(ESRRB):c.-191T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000274372] | uncertain significance | 14 | 76371527 | 76371527 | Human | 1 | name |
| 11622626 | CV330711 | single nucleotide variant | NM_004452.4(ESRRB):c.-300A>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV000362777] | uncertain significance | 14 | 76371418 | 76371418 | Human | 1 | name |
| 11623125 | CV330712 | single nucleotide variant | NM_004452.4(ESRRB):c.-211A>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV000368580] | uncertain significance | 14 | 76371507 | 76371507 | Human | 1 | name |
| 11626218 | CV337342 | single nucleotide variant | NM_004452.4(ESRRB):c.-369G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000408439] | uncertain significance | 14 | 76371349 | 76371349 | Human | 1 | name |
| 11617818 | CV339371 | single nucleotide variant | NM_004452.4(ESRRB):c.-324G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000308197] | uncertain significance | 14 | 76371394 | 76371394 | Human | 1 | name |
| 11625810 | CV339379 | single nucleotide variant | NM_004452.4(ESRRB):c.-292C>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000403049] | uncertain significance | 14 | 76371426 | 76371426 | Human | 1 | name |
| 11618423 | CV339386 | single nucleotide variant | NM_004452.4(ESRRB):c.-236C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000313939] | uncertain significance | 14 | 76371482 | 76371482 | Human | 1 | name |
| 9689512 | CV176091 | single nucleotide variant | NM_001379180.1(ESRRB):c.*7C>T | not provided [RCV003764949]|not specified [RCV000155088] | likely benign | 14 | 76498465 | 76498465 | Human | | name |
| 156142854 | CV1959794 | single nucleotide variant | NM_001379180.1(ESRRB):c.*8G>A | not provided [RCV002572633] | likely benign | 14 | 76498466 | 76498466 | Human | | name |
| 150413097 | CV1198566 | single nucleotide variant | NM_001379180.1(ESRRB):c.*13C>T | not provided [RCV001574520] | benign|likely benign | 14 | 76498471 | 76498471 | Human | | name |
| 151351690 | CV1321930 | single nucleotide variant | NM_001379180.1(ESRRB):c.*43C>T | not provided [RCV001806600] | likely benign | 14 | 76498501 | 76498501 | Human | | name |
| 150405403 | CV1177817 | single nucleotide variant | NM_001379180.1(ESRRB):c.*263C>A | not provided [RCV001544849] | likely benign | 14 | 76498721 | 76498721 | Human | | name |
| 150496305 | CV1206037 | single nucleotide variant | NM_001379180.1(ESRRB):c.*258C>T | not provided [RCV001593719] | likely benign | 14 | 76498716 | 76498716 | Human | | name |
| 150506790 | CV1211011 | single nucleotide variant | NM_001379180.1(ESRRB):c.*126G>A | not provided [RCV001596129] | likely benign | 14 | 76498584 | 76498584 | Human | | name |
| 150484449 | CV1250025 | single nucleotide variant | NM_001379180.1(ESRRB):c.*125C>T | not provided [RCV001673638] | benign | 14 | 76498583 | 76498583 | Human | | name |
| 150484318 | CV1280419 | single nucleotide variant | NM_001379180.1(ESRRB):c.*175T>C | not provided [RCV001715350] | benign | 14 | 76498633 | 76498633 | Human | | name |
| 126739686 | CV1017833 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1451C>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV001329257] | likely pathogenic | 14 | 76499909 | 76499909 | Human | 1 | name |
| 150332341 | CV1172643 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1292A>G | not provided [RCV001538986] | benign | 14 | 76499750 | 76499750 | Human | | name |
| 150336095 | CV1172644 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2140C>T | not provided [RCV001540839] | likely benign | 14 | 76500598 | 76500598 | Human | | name |
| 150423725 | CV1184922 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1534C>T | not provided [RCV001555710] | uncertain significance | 14 | 76499992 | 76499992 | Human | | name |
| 150443065 | CV1204808 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1892G>A | not provided [RCV001583915] | likely benign | 14 | 76500350 | 76500350 | Human | | name |
| 150478072 | CV1240132 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1834G>T | not provided [RCV001652310] | benign | 14 | 76500292 | 76500292 | Human | | name |
| 150475498 | CV1251725 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1161T>G | not provided [RCV001671923] | benign | 14 | 76499619 | 76499619 | Human | | name |
| 150499550 | CV1270841 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1107A>G | not provided [RCV001689391] | benign | 14 | 76499565 | 76499565 | Human | | name |
| 150553046 | CV1298059 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1598C>A | not provided [RCV001768672] | uncertain significance | 14 | 76500056 | 76500056 | Human | | name |
| 151235866 | CV1319293 | single nucleotide variant | NM_001379180.1(ESRRB):c.51-18C>T | not provided [RCV001797238] | likely benign | 14 | 76439323 | 76439323 | Human | | name |
| 151351825 | CV1322006 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2238G>A | not provided [RCV001806676] | uncertain significance | 14 | 76500696 | 76500696 | Human | | name |
| 151812790 | CV1347195 | single nucleotide variant | NM_001379180.1(ESRRB):c.578-9C>A | not provided [RCV002049018] | likely benign|uncertain significance | 14 | 76482007 | 76482007 | Human | | name |
| 151793726 | CV1353794 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1597C>A | not provided [RCV001990313] | uncertain significance | 14 | 76500055 | 76500055 | Human | | name |
| 9687764 | CV175948 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1517C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000299942]|ESRRB-related disorder [RCV003917469]|not provided [RCV000839950]|not specified [RCV000150665] | benign|likely benign|uncertain significance | 14 | 76499975 | 76499975 | Human | 1 | name , trait , alternate_id |
| 9691632 | CV176087 | single nucleotide variant | NM_001379180.1(ESRRB):c.460+4C>T | not specified [RCV000150661] | likely benign | 14 | 76439754 | 76439754 | Human | | name |
| 9687765 | CV176092 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1546C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001001653]|not provided [RCV000727112]|not specified [RCV000150666] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 76500004 | 76500004 | Human | 1 | name |
| 10049713 | CV190836 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1604G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000305650]|not provided [RCV000173802] | uncertain significance | 14 | 76500062 | 76500062 | Human | 1 | name |
| 155959835 | CV2133719 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1592G>A | not provided [RCV003015409] | uncertain significance | 14 | 76500050 | 76500050 | Human | | name |
| 11094789 | CV230539 | single nucleotide variant | NM_001379180.1(ESRRB):c.460+5G>A | not specified [RCV000221490] | uncertain significance | 14 | 76439755 | 76439755 | Human | | name |
| 11091879 | CV230547 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1550C>A | not specified [RCV000217855] | uncertain significance | 14 | 76500008 | 76500008 | Human | | name |
| 405219511 | CV2870153 | single nucleotide variant | NM_001379180.1(ESRRB):c.688+1G>A | not provided [RCV003553667] | likely pathogenic | 14 | 76482127 | 76482127 | Human | | name |
| 405211140 | CV3117768 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2222G>C | not provided [RCV003823367] | likely benign | 14 | 76500680 | 76500680 | Human | | name |
| 405239029 | CV3165813 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2225T>G | not provided [RCV003866825] | likely benign | 14 | 76500683 | 76500683 | Human | | name |
| 11608863 | CV321453 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2287G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000360506]|not provided [RCV001594945] | likely benign|uncertain significance | 14 | 76500745 | 76500745 | Human | 1 | name |
| 11655411 | CV321456 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2639C>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV000325220] | uncertain significance | 14 | 76501097 | 76501097 | Human | 1 | name |
| 11610768 | CV321458 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2926G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000385760] | uncertain significance | 14 | 76501384 | 76501384 | Human | 1 | name |
| 11603136 | CV321464 | single nucleotide variant | NM_001379180.1(ESRRB):c.*3018G>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000296959] | uncertain significance | 14 | 76501476 | 76501476 | Human | 1 | name |
| 405258860 | CV3215182 | single nucleotide variant | NM_001379180.1(ESRRB):c.851-2A>T | ESRRB-related disorder [RCV003942226]|not provided [RCV004775535] | likely pathogenic | 14 | 76491445 | 76491445 | Human | 1 | name , trait , alternate_id |
| 11613174 | CV330716 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2334G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000265845]|not provided [RCV004693195] | uncertain significance | 14 | 76500792 | 76500792 | Human | 1 | name |
| 11619745 | CV330717 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2382G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000328853]|not provided [RCV004693196] | uncertain significance | 14 | 76500840 | 76500840 | Human | 1 | name |
| 11658521 | CV330723 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2912G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000349870] | uncertain significance | 14 | 76501370 | 76501370 | Human | 1 | name |
| 11648426 | CV330724 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2945C>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000281620] | uncertain significance | 14 | 76501403 | 76501403 | Human | 1 | name |
| 11626147 | CV330725 | single nucleotide variant | NM_001379180.1(ESRRB):c.*3331C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000407426] | uncertain significance | 14 | 76501789 | 76501789 | Human | 1 | name |
| 11616502 | CV337357 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2906T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000295051]|not provided [RCV004714851] | benign|likely benign | 14 | 76501364 | 76501364 | Human | 1 | name |
| 11663711 | CV337363 | duplication | NM_001379180.1(ESRRB):c.*3025dup | Hearing loss, autosomal recessive [RCV004577828] | likely benign | 14 | 76501475 | 76501476 | Human | 2 | name |
| 11652144 | CV337377 | single nucleotide variant | NM_001379180.1(ESRRB):c.*3372G>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000303051] | uncertain significance | 14 | 76501830 | 76501830 | Human | 1 | name |
| 11616022 | CV339391 | single nucleotide variant | NM_001379180.1(ESRRB):c.578-4A>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV000290968] | uncertain significance | 14 | 76482012 | 76482012 | Human | 1 | name |
| 11621974 | CV339392 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1527C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000354824]|not provided [RCV000914573] | benign|likely benign|uncertain significance | 14 | 76499985 | 76499985 | Human | 1 | name |
| 11624252 | CV339398 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2504T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000383484]|not provided [RCV001613005] | benign|likely benign | 14 | 76500962 | 76500962 | Human | 1 | name |
| 11613668 | CV339399 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2574C>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000270188]|not provided [RCV001653545] | benign|likely benign | 14 | 76501032 | 76501032 | Human | 1 | name |
| 11624710 | CV339401 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2867C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000389347] | uncertain significance | 14 | 76501325 | 76501325 | Human | 1 | name |
| 11620425 | CV339407 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2953C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000336617] | uncertain significance | 14 | 76501411 | 76501411 | Human | 1 | name |
| 408367728 | CV3514252 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1616T>C | ESRRB-related disorder [RCV004759182] | likely benign | 14 | 76500074 | 76500074 | Human | | name , trait , alternate_id |
| 597839081 | CV3736969 | single nucleotide variant | NM_001379180.1(ESRRB):c.577+2T>C | not provided [RCV005064449] | likely pathogenic | 14 | 76462663 | 76462663 | Human | | name |
| 597944088 | CV3754946 | single nucleotide variant | NM_001379180.1(ESRRB):c.850+9G>A | not provided [RCV005078135] | likely benign | 14 | 76482768 | 76482768 | Human | | name |
| 597937094 | CV3759889 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2242G>A | not provided [RCV005076811] | likely benign | 14 | 76500700 | 76500700 | Human | | name |
| 597910051 | CV3770319 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1509C>T | not provided [RCV005113620] | likely benign | 14 | 76499967 | 76499967 | Human | | name |
| 597878455 | CV3825933 | single nucleotide variant | NM_001379180.1(ESRRB):c.578-7C>A | not provided [RCV005177807] | likely benign | 14 | 76482009 | 76482009 | Human | | name |
| 598128573 | CV3887777 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1451C>A | not provided [RCV005243951] | likely pathogenic | 14 | 76499909 | 76499909 | Human | | name |
| 598199486 | CV4007319 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1506G>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV005398147] | uncertain significance | 14 | 76499964 | 76499964 | Human | 1 | name |
| 598199516 | CV4007323 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1529A>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV005398151] | uncertain significance | 14 | 76499987 | 76499987 | Human | 1 | name |
| 13525742 | CV497040 | duplication | NM_001379180.1(ESRRB):c.*2241dup | not specified [RCV000603407] | uncertain significance | 14 | 76500696 | 76500697 | Human | | name |
| 13541341 | CV497674 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1559A>G | not specified [RCV000616027] | uncertain significance | 14 | 76500017 | 76500017 | Human | | name |
| 8607834 | CV54164 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1474T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000392529]|not provided [RCV000487923]|not specified [RCV000038136] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 76499932 | 76499932 | Human | 1 | name |
| 8607836 | CV54166 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1535G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000259845]|not provided [RCV000991973]|not specified [RCV000038138] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 76499993 | 76499993 | Human | 1 | name |
| 14703635 | CV654764 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1402C>A | not specified [RCV000825332] | uncertain significance | 14 | 76499860 | 76499860 | Human | | name |
| 14745253 | CV667404 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1350G>A | not provided [RCV000843250] | likely benign | 14 | 76499808 | 76499808 | Human | | name |
| 8627570 | CV82714 | single nucleotide variant | NM_004452.3(ESRRB):c.1296+332C>T | Malignant melanoma [RCV000062794] | not provided | 14 | 76498784 | 76498784 | Human | | name |
| 28874912 | CV860125 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1502A>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001115665]|not provided [RCV001093125] | uncertain significance | 14 | 76499960 | 76499960 | Human | 1 | name |
| 28874915 | CV872705 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1519G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV001115666] | uncertain significance | 14 | 76499977 | 76499977 | Human | 1 | name |
| 28874917 | CV872706 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1556T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV001115667]|not provided [RCV001558374] | likely benign|uncertain significance | 14 | 76500014 | 76500014 | Human | 1 | name |
| 28879026 | CV872707 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2373G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV001117090] | uncertain significance | 14 | 76500831 | 76500831 | Human | 1 | name |
| 28884372 | CV872708 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2702A>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV001118728] | uncertain significance | 14 | 76501160 | 76501160 | Human | 1 | name |
| 28884376 | CV872709 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2721A>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV001118729] | uncertain significance | 14 | 76501179 | 76501179 | Human | 1 | name |
| 28884382 | CV872710 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2751C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001118730] | uncertain significance | 14 | 76501209 | 76501209 | Human | 1 | name |
| 28884386 | CV872711 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2765A>G | Autosomal recessive nonsyndromic hearing loss 35 [RCV001118731] | uncertain significance | 14 | 76501223 | 76501223 | Human | 1 | name |
| 28884390 | CV872712 | single nucleotide variant | NM_001379180.1(ESRRB):c.*2859T>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV001118732] | uncertain significance | 14 | 76501317 | 76501317 | Human | 1 | name |
| 28890563 | CV872713 | single nucleotide variant | NM_001379180.1(ESRRB):c.*3220T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120664] | uncertain significance | 14 | 76501678 | 76501678 | Human | 1 | name |
| 28890567 | CV872714 | single nucleotide variant | NM_001379180.1(ESRRB):c.*3338C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120665] | uncertain significance | 14 | 76501796 | 76501796 | Human | 1 | name |
| 28890570 | CV872715 | single nucleotide variant | NM_001379180.1(ESRRB):c.*3347A>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120666] | uncertain significance | 14 | 76501805 | 76501805 | Human | 1 | name |
| 28890351 | CV876453 | single nucleotide variant | NM_001379180.1(ESRRB):c.*1398C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120586] | uncertain significance | 14 | 76499856 | 76499856 | Human | 1 | name |
| 8635292 | CV90514 | single nucleotide variant | NM_004452.3(ESRRB):c.1296+444C>T | Malignant melanoma [RCV000070612] | not provided | 14 | 76498896 | 76498896 | Human | | name |
| 150426964 | CV1188156 | single nucleotide variant | NM_001379180.1(ESRRB):c.51-305C>T | not provided [RCV001560284] | likely benign | 14 | 76439036 | 76439036 | Human | | name |
| 150406726 | CV1191613 | single nucleotide variant | NM_001379180.1(ESRRB):c.577+31G>A | not provided [RCV001564769] | likely benign | 14 | 76462692 | 76462692 | Human | | name |
| 150408495 | CV1191614 | single nucleotide variant | NM_001379180.1(ESRRB):c.577+45G>C | not provided [RCV001565342] | likely benign | 14 | 76462706 | 76462706 | Human | | name |
| 150418579 | CV1198565 | single nucleotide variant | NM_001379180.1(ESRRB):c.850+55C>T | not provided [RCV001576800] | likely benign | 14 | 76482814 | 76482814 | Human | | name |
| 150489714 | CV1208493 | single nucleotide variant | NM_001379180.1(ESRRB):c.850+47G>A | not provided [RCV001592354] | likely benign | 14 | 76482806 | 76482806 | Human | | name |
| 150484260 | CV1222453 | single nucleotide variant | NM_001379180.1(ESRRB):c.851-45G>C | not provided [RCV001617456] | benign | 14 | 76491402 | 76491402 | Human | | name |
| 150482379 | CV1244267 | duplication | NM_001379180.1(ESRRB):c.578-96dup | not provided [RCV001653114] | benign | 14 | 76481919 | 76481920 | Human | | name |
| 150435476 | CV1244420 | single nucleotide variant | NM_001379180.1(ESRRB):c.688+13G>A | not provided [RCV001665411] | likely benign | 14 | 76482139 | 76482139 | Human | | name |
| 150498774 | CV1255635 | single nucleotide variant | NM_001379180.1(ESRRB):c.460+64T>C | not provided [RCV001676423] | benign | 14 | 76439814 | 76439814 | Human | | name |
| 150484921 | CV1273832 | single nucleotide variant | NM_001379180.1(ESRRB):c.689-79T>C | not provided [RCV001698606] | benign | 14 | 76482519 | 76482519 | Human | | name |
| 152133975 | CV1582997 | single nucleotide variant | NM_001379180.1(ESRRB):c.1120+9G>A | not provided [RCV002099860] | likely benign | 14 | 76491725 | 76491725 | Human | | name |
| 152174585 | CV1602120 | single nucleotide variant | NM_001379180.1(ESRRB):c.688+17T>C | not provided [RCV002144487] | likely benign | 14 | 76482143 | 76482143 | Human | | name |
| 9690721 | CV175944 | single nucleotide variant | NM_001379180.1(ESRRB):c.689-10G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV000381921]|not provided [RCV005089762]|not specified [RCV000156410] | likely benign|uncertain significance | 14 | 76482588 | 76482588 | Human | 1 | name |
| 9691633 | CV176089 | single nucleotide variant | NM_001379180.1(ESRRB):c.1120+8C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120583]|not provided [RCV000954478]|not specified [RCV000150663] | benign|likely benign|uncertain significance | 14 | 76491724 | 76491724 | Human | 1 | name |
| 11094420 | CV230538 | single nucleotide variant | NM_001379180.1(ESRRB):c.850+10T>A | not provided [RCV003765370]|not specified [RCV000221036] | likely benign | 14 | 76482769 | 76482769 | Human | | name |
| 405058441 | CV2928943 | single nucleotide variant | NM_001379180.1(ESRRB):c.851-14C>A | not provided [RCV003580295] | likely benign | 14 | 76491433 | 76491433 | Human | | name |
| 405163488 | CV2960529 | single nucleotide variant | NM_001379180.1(ESRRB):c.688+19C>T | not provided [RCV003674852] | likely benign | 14 | 76482145 | 76482145 | Human | | name |
| 405207248 | CV3154668 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-12G>A | not provided [RCV003845178] | likely benign | 14 | 76462533 | 76462533 | Human | | name |
| 11623714 | CV337352 | single nucleotide variant | NM_001379180.1(ESRRB):c.577+15C>T | Autosomal recessive nonsyndromic hearing loss 35 [RCV000376138]|not provided [RCV003765830] | likely benign|uncertain significance | 14 | 76462676 | 76462676 | Human | 1 | name |
| 597919271 | CV3764959 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-19T>C | not provided [RCV005114974] | likely benign | 14 | 76462526 | 76462526 | Human | | name |
| 597862865 | CV3822726 | single nucleotide variant | NM_001379180.1(ESRRB):c.851-14C>T | not provided [RCV005175258] | likely benign | 14 | 76491433 | 76491433 | Human | | name |
| 14744446 | CV666644 | single nucleotide variant | NM_001379180.1(ESRRB):c.460+56T>C | not provided [RCV000842767] | benign | 14 | 76439806 | 76439806 | Human | | name |
| 14745561 | CV667721 | single nucleotide variant | NM_001379180.1(ESRRB):c.577+21G>A | not provided [RCV000843505] | benign | 14 | 76462682 | 76462682 | Human | | name |
| 150406682 | CV1177816 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-249C>T | not provided [RCV001545330] | likely benign | 14 | 76462296 | 76462296 | Human | | name |
| 150421596 | CV1198564 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-115C>T | not provided [RCV001578101] | likely benign | 14 | 76462430 | 76462430 | Human | | name |
| 150480435 | CV1208016 | single nucleotide variant | NM_001379180.1(ESRRB):c.1121-50A>C | not provided [RCV001590293] | likely benign | 14 | 76498164 | 76498164 | Human | | name |
| 150513444 | CV1211933 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-116A>G | not provided [RCV001598454] | benign | 14 | 76462429 | 76462429 | Human | | name |
| 150482625 | CV1223455 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-214A>G | not provided [RCV001617168] | benign | 14 | 76462331 | 76462331 | Human | | name |
| 150498859 | CV1224491 | single nucleotide variant | NM_001379180.1(ESRRB):c.850+190C>T | not provided [RCV001620321] | benign | 14 | 76482949 | 76482949 | Human | | name |
| 150436095 | CV1234007 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-158A>G | not provided [RCV001644134] | benign | 14 | 76462387 | 76462387 | Human | | name |
| 150477905 | CV1240104 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-263A>G | not provided [RCV001652282] | benign | 14 | 76462282 | 76462282 | Human | | name |
| 150485659 | CV1273782 | single nucleotide variant | NM_001379180.1(ESRRB):c.461-112G>A | not provided [RCV001698781] | benign | 14 | 76462433 | 76462433 | Human | | name |
| 150535853 | CV1312068 | single nucleotide variant | NM_001379180.1(ESRRB):c.1121-44C>T | not provided [RCV001779879] | likely benign | 14 | 76498170 | 76498170 | Human | | name |
| 152150515 | CV1625793 | single nucleotide variant | NM_001379180.1(ESRRB):c.1120+19C>T | not provided [RCV002139442] | benign | 14 | 76491735 | 76491735 | Human | | name |
| 152141733 | CV1626008 | single nucleotide variant | NM_001379180.1(ESRRB):c.1120+14C>A | not provided [RCV002138262] | likely benign | 14 | 76491730 | 76491730 | Human | | name |
| 156398060 | CV1990803 | single nucleotide variant | NM_001379180.1(ESRRB):c.1121-17C>T | not provided [RCV002605332] | likely benign | 14 | 76498197 | 76498197 | Human | | name |
| 11093390 | CV230544 | single nucleotide variant | NM_001379180.1(ESRRB):c.1120+11C>T | not provided [RCV001565490]|not specified [RCV000219722] | benign|likely benign | 14 | 76491727 | 76491727 | Human | | name |
| 11088335 | CV230545 | single nucleotide variant | NM_001379180.1(ESRRB):c.1120+15G>A | not provided [RCV003765369]|not specified [RCV000213446] | likely benign | 14 | 76491731 | 76491731 | Human | | name |
| 14723612 | CV666648 | single nucleotide variant | NM_001379180.1(ESRRB):c.1121-56C>T | not provided [RCV000832616] | likely benign | 14 | 76498158 | 76498158 | Human | | name |
| 14744447 | CV667399 | single nucleotide variant | NM_001379180.1(ESRRB):c.460+100T>C | not provided [RCV000842768] | benign | 14 | 76439850 | 76439850 | Human | | name |
| 11651889 | CV330713 | single nucleotide variant | NM_001379180.1(ESRRB):c.50+27963T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV000301432] | uncertain significance | 14 | 76404414 | 76404414 | Human | 1 | name |
| 28874698 | CV872698 | single nucleotide variant | NM_001379180.1(ESRRB):c.50+27968G>A | Autosomal recessive nonsyndromic hearing loss 35 [RCV001115575] | uncertain significance | 14 | 76404419 | 76404419 | Human | 1 | name |
| 28874701 | CV872699 | single nucleotide variant | NM_001379180.1(ESRRB):c.50+28005T>C | Autosomal recessive nonsyndromic hearing loss 35 [RCV001115576] | uncertain significance | 14 | 76404456 | 76404456 | Human | 1 | name |
| 9690941 | CV175770 | deletion | NM_004452.3(ESRRB):c.(?_1)_(1527_?)del | Rare genetic deafness [RCV000156636] | likely pathogenic | 14 | 76439354 | 76500721 | Human | | name |
| 156130454 | CV2084858 | deletion | NM_001379180.1(ESRRB):c.*1623_*1690del | not provided [RCV002871615] | likely benign | 14 | 76500080 | 76500147 | Human | | name |
| 11657625 | CV337368 | deletion | NM_001379180.1(ESRRB):c.*3064_*3066del | Hearing loss, autosomal recessive [RCV004577829] | uncertain significance | 14 | 76501521 | 76501523 | Human | 2 | name |
| 156075827 | CV1979206 | single nucleotide variant | NM_001379180.1(ESRRB):c.138G>A (p.Ser46=) | not provided [RCV002621386] | likely benign | 14 | 76439428 | 76439428 | Human | | name |
| 405093292 | CV3134559 | single nucleotide variant | NM_001379180.1(ESRRB):c.225C>T (p.Asn75=) | not provided [RCV003834905] | likely benign | 14 | 76439515 | 76439515 | Human | | name |
| 405224024 | CV3151187 | single nucleotide variant | NM_001379180.1(ESRRB):c.237G>A (p.Ser79=) | not provided [RCV003847612] | likely benign | 14 | 76439527 | 76439527 | Human | | name |
| 11612665 | CV339389 | single nucleotide variant | NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000261267]|not provided [RCV001590941]|not specified [RCV000607690] | likely benign|uncertain significance | 14 | 76439467 | 76439467 | Human | 1 | name |
| 8607835 | CV54165 | single nucleotide variant | NM_001379180.1(ESRRB):c.204G>C (p.Leu68=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000380633]|not provided [RCV000711620]|not specified [RCV000038137] | benign|likely benign|uncertain significance | 14 | 76439494 | 76439494 | Human | 1 | name |
| 8607838 | CV54168 | single nucleotide variant | NM_001379180.1(ESRRB):c.144C>A (p.Ile48=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000356275]|not provided [RCV002054688]|not specified [RCV000038140] | benign|likely benign | 14 | 76439434 | 76439434 | Human | 1 | name |
| 8635291 | CV90513 | single nucleotide variant | NM_004452.3(ESRRB):c.843G>A (p.Met281Ile) | Malignant melanoma [RCV000070611] | not provided | 14 | 76491502 | 76491502 | Human | | name |
| 152064926 | CV1539659 | single nucleotide variant | NM_001379180.1(ESRRB):c.306C>T (p.Ser102=) | not provided [RCV002147282] | likely benign | 14 | 76439596 | 76439596 | Human | | name |
| 152028110 | CV1576307 | single nucleotide variant | NM_001379180.1(ESRRB):c.621G>A (p.Lys207=) | not provided [RCV002105124] | likely benign | 14 | 76482059 | 76482059 | Human | | name |
| 9687763 | CV175945 | single nucleotide variant | NM_001379180.1(ESRRB):c.765G>A (p.Glu255=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000287597]|not provided [RCV000903153]|not specified [RCV000150662] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 76482674 | 76482674 | Human | 1 | name |
| 9687762 | CV176086 | single nucleotide variant | NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001115577]|not provided [RCV000885398]|not specified [RCV000150660] | benign | 14 | 76439369 | 76439369 | Human | 1 | name |
| 9690389 | CV176088 | single nucleotide variant | NM_001379180.1(ESRRB):c.726G>A (p.Pro242=) | not provided [RCV003698750]|not specified [RCV000156067] | likely benign | 14 | 76482635 | 76482635 | Human | | name |
| 156122062 | CV1969232 | single nucleotide variant | NM_001379180.1(ESRRB):c.795T>C (p.Cys265=) | not provided [RCV002593169] | likely benign | 14 | 76482704 | 76482704 | Human | | name |
| 156338125 | CV2110409 | single nucleotide variant | NM_001379180.1(ESRRB):c.684G>A (p.Lys228=) | not provided [RCV002938750] | likely benign|conflicting interpretations of pathogenicity | 14 | 76482122 | 76482122 | Human | | name |
| 11090954 | CV230537 | single nucleotide variant | NM_001379180.1(ESRRB):c.378G>A (p.Val126=) | not provided [RCV005090061]|not specified [RCV000216700] | likely benign | 14 | 76439668 | 76439668 | Human | | name |
| 11096296 | CV230540 | single nucleotide variant | NM_001379180.1(ESRRB):c.876C>T (p.Asp292=) | not provided [RCV000827002]|not specified [RCV000223390] | benign|likely benign | 14 | 76491472 | 76491472 | Human | | name |
| 401796991 | CV2739948 | single nucleotide variant | NM_001379180.1(ESRRB):c.558A>G (p.Lys186=) | not provided [RCV003319909] | uncertain significance | 14 | 76462642 | 76462642 | Human | | name |
| 405077363 | CV2869642 | single nucleotide variant | NM_001379180.1(ESRRB):c.990G>A (p.Glu330=) | not provided [RCV003548900] | likely benign | 14 | 76491586 | 76491586 | Human | | name |
| 405191171 | CV2928055 | single nucleotide variant | NM_001379180.1(ESRRB):c.756T>G (p.Gly252=) | not provided [RCV003564915] | likely benign | 14 | 76482665 | 76482665 | Human | | name |
| 402505336 | CV3038878 | single nucleotide variant | NM_001379180.1(ESRRB):c.417C>T (p.Ala139=) | not provided [RCV003715074] | likely benign | 14 | 76439707 | 76439707 | Human | | name |
| 405240924 | CV3060972 | single nucleotide variant | NM_001379180.1(ESRRB):c.654G>T (p.Leu218=) | not provided [RCV003737240] | likely benign | 14 | 76482092 | 76482092 | Human | | name |
| 11655033 | CV330714 | single nucleotide variant | NM_001379180.1(ESRRB):c.480C>T (p.Cys160=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000322479] | uncertain significance | 14 | 76462564 | 76462564 | Human | 1 | name |
| 597939530 | CV3760530 | single nucleotide variant | NM_001379180.1(ESRRB):c.939G>A (p.Ser313=) | not provided [RCV005077257] | likely benign | 14 | 76491535 | 76491535 | Human | | name |
| 597952738 | CV3765717 | single nucleotide variant | NM_001379180.1(ESRRB):c.735C>A (p.Leu245=) | not provided [RCV005121361] | likely benign | 14 | 76482644 | 76482644 | Human | | name |
| 597885180 | CV3835037 | single nucleotide variant | NM_001379180.1(ESRRB):c.411C>T (p.Gly137=) | not provided [RCV005178761] | likely benign | 14 | 76439701 | 76439701 | Human | | name |
| 597919526 | CV3842628 | single nucleotide variant | NM_001379180.1(ESRRB):c.498C>T (p.Cys166=) | not provided [RCV005184113] | likely benign | 14 | 76462582 | 76462582 | Human | | name |
| 597966650 | CV3855586 | single nucleotide variant | NM_001379180.1(ESRRB):c.919C>T (p.Leu307=) | not provided [RCV005194565] | likely benign | 14 | 76491515 | 76491515 | Human | | name |
| 13541161 | CV497245 | single nucleotide variant | NM_001379180.1(ESRRB):c.312C>A (p.Ile104=) | not specified [RCV000615763] | likely benign | 14 | 76439602 | 76439602 | Human | | name |
| 13527097 | CV497671 | single nucleotide variant | NM_001379180.1(ESRRB):c.492C>T (p.Asn164=) | not specified [RCV000605013] | likely benign | 14 | 76462576 | 76462576 | Human | | name |
| 13541859 | CV497673 | single nucleotide variant | NM_001379180.1(ESRRB):c.924C>A (p.Gly308=) | not provided [RCV002532717]|not specified [RCV000616733] | likely benign|uncertain significance | 14 | 76491520 | 76491520 | Human | | name |
| 8607837 | CV54167 | single nucleotide variant | NM_001379180.1(ESRRB):c.414G>A (p.Val138=) | not provided [RCV000724814]|not specified [RCV000038139] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 76439704 | 76439704 | Human | | name |
| 8607839 | CV54169 | single nucleotide variant | NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000351899]|not provided [RCV002054689]|not specified [RCV000038141] | benign | 14 | 76491544 | 76491544 | Human | 1 | name |
| 13837559 | CV588849 | single nucleotide variant | NM_001379180.1(ESRRB):c.75C>A (p.Asp25Glu) | not provided [RCV000734015] | uncertain significance | 14 | 76439365 | 76439365 | Human | | name |
| 14399871 | CV610465 | single nucleotide variant | NM_001379180.1(ESRRB):c.66G>A (p.Met22Ile) | Premature ovarian insufficiency [RCV000766139] | uncertain significance | 14 | 76439356 | 76439356 | Human | 2 | name |
| 14703314 | CV654758 | single nucleotide variant | NM_001379180.1(ESRRB):c.483G>A (p.Pro161=) | not provided [RCV002061143]|not specified [RCV000825165] | likely benign | 14 | 76462567 | 76462567 | Human | | name |
| 151723223 | CV1356710 | single nucleotide variant | NM_001379180.1(ESRRB):c.229C>A (p.Leu77Met) | not provided [RCV001966264] | uncertain significance | 14 | 76439519 | 76439519 | Human | | name |
| 151884315 | CV1405167 | single nucleotide variant | NM_001379180.1(ESRRB):c.184G>A (p.Ala62Thr) | not provided [RCV001962310]|not specified [RCV004040395] | uncertain significance | 14 | 76439474 | 76439474 | Human | | name |
| 152150984 | CV1549962 | single nucleotide variant | NM_001379180.1(ESRRB):c.1245G>A (p.Leu415=) | not provided [RCV002201962] | likely benign | 14 | 76498338 | 76498338 | Human | | name |
| 152154216 | CV1579440 | single nucleotide variant | NM_001379180.1(ESRRB):c.1261C>A (p.Arg421=) | not provided [RCV002158629] | likely benign | 14 | 76498354 | 76498354 | Human | | name |
| 9689510 | CV175943 | single nucleotide variant | NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001117008]|ESRRB-related disorder [RCV003937449]|not provided [RCV000879867]|not specified [RCV000155086] | likely benign|uncertain significance | 14 | 76439496 | 76439496 | Human | 1 | name , trait , alternate_id |
| 9689511 | CV175946 | single nucleotide variant | NM_001379180.1(ESRRB):c.1176C>T (p.His392=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000312974]|not provided [RCV002516120]|not specified [RCV000155087] | likely benign|uncertain significance | 14 | 76498269 | 76498269 | Human | 1 | name |
| 156413454 | CV1900953 | single nucleotide variant | NM_001379180.1(ESRRB):c.1141C>T (p.Leu381=) | not provided [RCV002588170] | likely benign | 14 | 76498234 | 76498234 | Human | | name |
| 156075815 | CV1904236 | single nucleotide variant | NM_001379180.1(ESRRB):c.1272C>T (p.Ala424=) | not provided [RCV002591413] | likely benign | 14 | 76498365 | 76498365 | Human | | name |
| 156081570 | CV1908982 | single nucleotide variant | NM_001379180.1(ESRRB):c.1248A>G (p.Thr416=) | not provided [RCV002591598] | likely benign | 14 | 76498341 | 76498341 | Human | | name |
| 155940466 | CV2038035 | single nucleotide variant | NM_001379180.1(ESRRB):c.1257G>A (p.Leu419=) | not provided [RCV002775157] | likely benign | 14 | 76498350 | 76498350 | Human | | name |
| 156379197 | CV2207909 | single nucleotide variant | NM_001379180.1(ESRRB):c.226G>T (p.Gly76Cys) | not specified [RCV004084334] | uncertain significance | 14 | 76439516 | 76439516 | Human | | name |
| 156195386 | CV2251843 | single nucleotide variant | NM_001379180.1(ESRRB):c.221C>T (p.Ala74Val) | not specified [RCV004119829] | uncertain significance | 14 | 76439511 | 76439511 | Human | | name |
| 156207775 | CV2382409 | single nucleotide variant | NM_001379180.1(ESRRB):c.278G>A (p.Cys93Tyr) | not provided [RCV003126283]|not specified [RCV004230748] | uncertain significance | 14 | 76439568 | 76439568 | Human | | name |
| 329400761 | CV2438761 | single nucleotide variant | NM_001379180.1(ESRRB):c.229C>G (p.Leu77Val) | not specified [RCV004261904] | uncertain significance | 14 | 76439519 | 76439519 | Human | | name |
| 11544888 | CV255066 | single nucleotide variant | NM_001379180.1(ESRRB):c.1032C>T (p.Ala344=) | not specified [RCV000244396] | likely benign | 14 | 76491628 | 76491628 | Human | | name |
| 401725234 | CV2735844 | duplication | NM_001379180.1(ESRRB):c.923dup (p.Ile309fs) | not provided [RCV003312287] | pathogenic|likely pathogenic | 14 | 76491516 | 76491517 | Human | | name |
| 405103059 | CV3119604 | single nucleotide variant | NM_001379180.1(ESRRB):c.1134C>T (p.Ile378=) | not provided [RCV003811866] | likely benign | 14 | 76498227 | 76498227 | Human | | name |
| 405038988 | CV3140953 | single nucleotide variant | NM_001379180.1(ESRRB):c.1092G>A (p.Thr364=) | not provided [RCV003831246] | likely benign | 14 | 76491688 | 76491688 | Human | | name |
| 11618666 | CV337344 | single nucleotide variant | NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000316764]|not provided [RCV001859881] | uncertain significance | 14 | 76439480 | 76439480 | Human | 1 | name |
| 597960281 | CV3798008 | single nucleotide variant | NM_001379180.1(ESRRB):c.112A>C (p.Lys38Gln) | not provided [RCV005138482] | uncertain significance | 14 | 76439402 | 76439402 | Human | | name |
| 597957474 | CV3800529 | single nucleotide variant | NM_001379180.1(ESRRB):c.1014G>T (p.Leu338=) | not provided [RCV005137621] | likely benign | 14 | 76491610 | 76491610 | Human | | name |
| 598126114 | CV3886080 | single nucleotide variant | NM_001379180.1(ESRRB):c.220G>A (p.Ala74Thr) | not provided [RCV005241883] | uncertain significance | 14 | 76439510 | 76439510 | Human | | name |
| 598193133 | CV3958279 | single nucleotide variant | NM_001379180.1(ESRRB):c.100G>A (p.Gly34Ser) | not specified [RCV005335129] | uncertain significance | 14 | 76439390 | 76439390 | Human | | name |
| 598199550 | CV4007327 | single nucleotide variant | NM_001379180.1(ESRRB):c.224A>G (p.Asn75Ser) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005398155] | uncertain significance | 14 | 76439514 | 76439514 | Human | 1 | name |
| 13518141 | CV492540 | single nucleotide variant | NM_001379180.1(ESRRB):c.1350G>A (p.Leu450=) | not provided [RCV000597070] | uncertain significance | 14 | 76498443 | 76498443 | Human | | name |
| 28878756 | CV872700 | single nucleotide variant | NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001117009] | uncertain significance | 14 | 76439516 | 76439516 | Human | 1 | name |
| 28878760 | CV872701 | single nucleotide variant | NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001117010]|not specified [RCV004032204] | uncertain significance | 14 | 76439550 | 76439550 | Human | 1 | name |
| 28878763 | CV872702 | single nucleotide variant | NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001117011] | uncertain significance | 14 | 76439582 | 76439582 | Human | 1 | name |
| 28890343 | CV872703 | single nucleotide variant | NM_001379180.1(ESRRB):c.1119C>T (p.Ser373=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120582] | uncertain significance | 14 | 76491715 | 76491715 | Human | 1 | name |
| 28890347 | CV872704 | single nucleotide variant | NM_001379180.1(ESRRB):c.1236G>A (p.Lys412=) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120584] | uncertain significance | 14 | 76498329 | 76498329 | Human | 1 | name |
| 150332255 | CV1163818 | single nucleotide variant | NM_001379180.1(ESRRB):c.562G>A (p.Gly188Arg) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001528172] | pathogenic | 14 | 76462646 | 76462646 | Human | 1 | name |
| 151796552 | CV1352465 | single nucleotide variant | NM_001379180.1(ESRRB):c.625C>T (p.Arg209Trp) | not provided [RCV001876994]|not specified [RCV004040489] | uncertain significance | 14 | 76482063 | 76482063 | Human | | name |
| 151764172 | CV1403111 | single nucleotide variant | NM_001379180.1(ESRRB):c.742A>G (p.Met248Val) | not provided [RCV001914329] | uncertain significance | 14 | 76482651 | 76482651 | Human | | name |
| 151749638 | CV1431208 | single nucleotide variant | NM_001379180.1(ESRRB):c.307G>C (p.Gly103Arg) | not provided [RCV001912849]|not specified [RCV004041657] | uncertain significance | 14 | 76439597 | 76439597 | Human | | name |
| 151814493 | CV1463005 | single nucleotide variant | NM_001379180.1(ESRRB):c.884G>C (p.Ser295Thr) | not provided [RCV002049174] | uncertain significance | 14 | 76491480 | 76491480 | Human | | name |
| 153302210 | CV1688113 | single nucleotide variant | NM_001379180.1(ESRRB):c.934C>T (p.Arg312Cys) | not provided [RCV002265339] | uncertain significance | 14 | 76491530 | 76491530 | Human | | name |
| 153302338 | CV1688180 | single nucleotide variant | NM_001379180.1(ESRRB):c.623G>A (p.Arg208Gln) | not provided [RCV002265406]|not specified [RCV004047439] | uncertain significance | 14 | 76482061 | 76482061 | Human | | name |
| 155267460 | CV1696665 | single nucleotide variant | NM_001379180.1(ESRRB):c.823A>G (p.Ile275Val) | not provided [RCV002281523] | uncertain significance | 14 | 76482732 | 76482732 | Human | | name |
| 155803476 | CV1858054 | single nucleotide variant | NM_001379180.1(ESRRB):c.598C>T (p.Arg200Cys) | not provided [RCV002462362] | uncertain significance | 14 | 76482036 | 76482036 | Human | | name |
| 156314298 | CV1874727 | single nucleotide variant | NM_001379180.1(ESRRB):c.498C>A (p.Cys166Ter) | not provided [RCV003062646] | pathogenic | 14 | 76462582 | 76462582 | Human | | name |
| 156126599 | CV2005409 | single nucleotide variant | NM_001379180.1(ESRRB):c.809G>A (p.Arg270Gln) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005419486]|not provided [RCV002663060] | uncertain significance | 14 | 76482718 | 76482718 | Human | 1 | name |
| 156164405 | CV2045063 | single nucleotide variant | NM_001379180.1(ESRRB):c.539G>A (p.Arg180His) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005398974]|not provided [RCV002741662] | uncertain significance | 14 | 76462623 | 76462623 | Human | 1 | name |
| 156030068 | CV2182053 | single nucleotide variant | NM_001379180.1(ESRRB):c.376G>T (p.Val126Leu) | not provided [RCV003036147] | uncertain significance | 14 | 76439666 | 76439666 | Human | | name |
| 8559960 | CV22538 | single nucleotide variant | NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000007928] | pathogenic | 14 | 76439682 | 76439682 | Human | 1 | name |
| 156068145 | CV2289466 | single nucleotide variant | NM_001379180.1(ESRRB):c.752C>G (p.Pro251Arg) | not specified [RCV004152409] | uncertain significance | 14 | 76482661 | 76482661 | Human | | name |
| 11089192 | CV230541 | single nucleotide variant | NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000392525]|not provided [RCV001589127]|not specified [RCV000214498] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 14 | 76491548 | 76491548 | Human | 1 | name |
| 11090048 | CV230546 | deletion | NM_001379180.1(ESRRB):c.1259del (p.Leu420fs) | not specified [RCV000215572] | uncertain significance | 14 | 76498352 | 76498352 | Human | | name |
| 329396016 | CV2454582 | single nucleotide variant | NM_001379180.1(ESRRB):c.965A>C (p.Tyr322Ser) | not specified [RCV004268056] | uncertain significance | 14 | 76491561 | 76491561 | Human | | name |
| 329351627 | CV2476574 | single nucleotide variant | NM_001379180.1(ESRRB):c.738T>G (p.Tyr246Ter) | not provided [RCV003222806] | likely pathogenic | 14 | 76482647 | 76482647 | Human | | name |
| 329952566 | CV2671836 | single nucleotide variant | NM_001379180.1(ESRRB):c.340T>C (p.Tyr114His) | not provided [RCV003237233] | uncertain significance | 14 | 76439630 | 76439630 | Human | | name |
| 401724954 | CV2672340 | single nucleotide variant | NM_001379180.1(ESRRB):c.815T>A (p.Leu272His) | not provided [RCV003239241] | uncertain significance | 14 | 76482724 | 76482724 | Human | | name |
| 401735989 | CV2672794 | single nucleotide variant | NM_001379180.1(ESRRB):c.482C>T (p.Pro161Leu) | not provided [RCV003443191]|not specified [RCV004281575] | uncertain significance | 14 | 76462566 | 76462566 | Human | | name |
| 401829482 | CV2747421 | single nucleotide variant | NM_001379180.1(ESRRB):c.517C>T (p.Arg173Cys) | not provided [RCV003328886] | uncertain significance | 14 | 76462601 | 76462601 | Human | | name |
| 401917373 | CV2829829 | single nucleotide variant | NM_001379180.1(ESRRB):c.536G>A (p.Cys179Tyr) | not provided [RCV003443873] | uncertain significance | 14 | 76462620 | 76462620 | Human | | name |
| 401914304 | CV2830665 | single nucleotide variant | NM_001379180.1(ESRRB):c.599G>T (p.Arg200Leu) | not provided [RCV003442403] | uncertain significance | 14 | 76482037 | 76482037 | Human | | name |
| 405757860 | CV3255915 | single nucleotide variant | NM_001379180.1(ESRRB):c.512G>A (p.Arg171Gln) | not specified [RCV004382980] | uncertain significance | 14 | 76462596 | 76462596 | Human | | name |
| 405757867 | CV3255916 | single nucleotide variant | NM_001379180.1(ESRRB):c.533C>G (p.Ala178Gly) | not specified [RCV004382981] | uncertain significance | 14 | 76462617 | 76462617 | Human | | name |
| 405757876 | CV3255917 | single nucleotide variant | NM_001379180.1(ESRRB):c.967G>A (p.Ala323Thr) | not specified [RCV004382982] | uncertain significance | 14 | 76491563 | 76491563 | Human | | name |
| 11613342 | CV337351 | single nucleotide variant | NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000267338]|not specified [RCV000605406] | uncertain significance | 14 | 76439592 | 76439592 | Human | 1 | name |
| 11658047 | CV337356 | single nucleotide variant | NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000346008]|not specified [RCV000615460] | uncertain significance | 14 | 76482097 | 76482097 | Human | 1 | name |
| 405867945 | CV3401345 | single nucleotide variant | NM_001379180.1(ESRRB):c.785C>A (p.Thr262Asn) | Autosomal recessive nonsyndromic hearing loss 35 [RCV004577654] | uncertain significance | 14 | 76482694 | 76482694 | Human | 1 | name |
| 407427718 | CV3412017 | single nucleotide variant | NM_001379180.1(ESRRB):c.322T>G (p.Ser108Ala) | not provided [RCV004592188]|not specified [RCV004621959] | uncertain significance | 14 | 76439612 | 76439612 | Human | | name |
| 407481116 | CV3442271 | single nucleotide variant | NM_001379180.1(ESRRB):c.767G>A (p.Gly256Glu) | not specified [RCV004618147] | uncertain significance | 14 | 76482676 | 76482676 | Human | | name |
| 596924293 | CV3532190 | single nucleotide variant | NM_001379180.1(ESRRB):c.961G>A (p.Val321Met) | not provided [RCV004777301] | uncertain significance | 14 | 76491557 | 76491557 | Human | | name |
| 596946694 | CV3548524 | single nucleotide variant | NM_001379180.1(ESRRB):c.938C>T (p.Ser313Leu) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005052914]|not provided [RCV004810351] | likely pathogenic|uncertain significance | 14 | 76491534 | 76491534 | Human | 1 | name |
| 597691135 | CV3665108 | single nucleotide variant | NM_001379180.1(ESRRB):c.492C>A (p.Asn164Lys) | not specified [RCV004915349] | uncertain significance | 14 | 76462576 | 76462576 | Human | | name |
| 597691146 | CV3665109 | single nucleotide variant | NM_001379180.1(ESRRB):c.694A>G (p.Lys232Glu) | not specified [RCV004915350] | uncertain significance | 14 | 76482603 | 76482603 | Human | | name |
| 597691179 | CV3665112 | single nucleotide variant | NM_001379180.1(ESRRB):c.646C>G (p.Pro216Ala) | not specified [RCV004915353] | uncertain significance | 14 | 76482084 | 76482084 | Human | | name |
| 597655432 | CV3731482 | single nucleotide variant | NM_001379180.1(ESRRB):c.926T>C (p.Ile309Thr) | not provided [RCV005001663] | uncertain significance | 14 | 76491522 | 76491522 | Human | | name |
| 597721320 | CV3733700 | single nucleotide variant | NM_001379180.1(ESRRB):c.518G>A (p.Arg173His) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005053005] | likely pathogenic | 14 | 76462602 | 76462602 | Human | 1 | name |
| 597721324 | CV3733701 | single nucleotide variant | NM_001379180.1(ESRRB):c.834G>C (p.Trp278Cys) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005053006] | likely pathogenic | 14 | 76482743 | 76482743 | Human | 1 | name |
| 597830918 | CV3743651 | single nucleotide variant | NM_001379180.1(ESRRB):c.933C>A (p.Tyr311Ter) | not provided [RCV005062468] | pathogenic | 14 | 76491529 | 76491529 | Human | | name |
| 598218739 | CV3891703 | single nucleotide variant | NM_001379180.1(ESRRB):c.661C>T (p.Gln221Ter) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005252546] | pathogenic | 14 | 76482099 | 76482099 | Human | 1 | name |
| 12858988 | CV389245 | single nucleotide variant | NM_001379180.1(ESRRB):c.608G>A (p.Arg203His) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000454320] | pathogenic | 14 | 76482046 | 76482046 | Human | 1 | name |
| 12858897 | CV389246 | single nucleotide variant | NM_001379180.1(ESRRB):c.850G>A (p.Gly284Ser) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000454210] | pathogenic | 14 | 76482759 | 76482759 | Human | 1 | name |
| 598193124 | CV3958277 | single nucleotide variant | NM_001379180.1(ESRRB):c.823A>C (p.Ile275Leu) | not specified [RCV005335127] | uncertain significance | 14 | 76482732 | 76482732 | Human | | name |
| 617152629 | CV4017868 | single nucleotide variant | NM_001379180.1(ESRRB):c.455T>C (p.Ile152Thr) | Autosomal recessive nonsyndromic hearing loss 35 [RCV005417658] | uncertain significance | 14 | 76439745 | 76439745 | Human | 1 | name |
| 617149486 | CV4018781 | single nucleotide variant | NM_001379180.1(ESRRB):c.412G>A (p.Val138Met) | not provided [RCV005422693] | uncertain significance | 14 | 76439702 | 76439702 | Human | | name |
| 13528616 | CV497039 | duplication | NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs) | Rare genetic deafness [RCV000608436] | likely pathogenic | 14 | 76491603 | 76491604 | Human | | name |
| 13529128 | CV497672 | single nucleotide variant | NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter) | Rare genetic deafness [RCV000616856] | likely pathogenic | 14 | 76482717 | 76482717 | Human | | name |
| 14698133 | CV625876 | single nucleotide variant | NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000790514] | uncertain significance | 14 | 76482705 | 76482705 | Human | 1 | name |
| 14703646 | CV654759 | single nucleotide variant | NM_001379180.1(ESRRB):c.533C>T (p.Ala178Val) | not specified [RCV000825338] | uncertain significance | 14 | 76462617 | 76462617 | Human | | name |
| 14703644 | CV654760 | single nucleotide variant | NM_001379180.1(ESRRB):c.538C>T (p.Arg180Cys) | not provided [RCV002538214]|not specified [RCV000825337] | uncertain significance | 14 | 76462622 | 76462622 | Human | | name |
| 14703648 | CV654761 | single nucleotide variant | NM_001379180.1(ESRRB):c.626G>A (p.Arg209Gln) | not provided [RCV004693408]|not specified [RCV000825339] | uncertain significance | 14 | 76482064 | 76482064 | Human | | name |
| 14703317 | CV654762 | single nucleotide variant | NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn) | ESRRB-related disorder [RCV003975336]|not provided [RCV001577741]|not specified [RCV000825166] | likely benign|conflicting interpretations of pathogenicity | 14 | 76491545 | 76491545 | Human | 1 | name , trait , alternate_id |
| 26902709 | CV857685 | single nucleotide variant | NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001089555]|not provided [RCV005225222] | likely pathogenic|uncertain significance | 14 | 76482021 | 76482021 | Human | 1 | name |
| 38458791 | CV918395 | single nucleotide variant | NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) | Hearing impairment [RCV001849479]|Hearing loss, autosomal recessive [RCV001291326]|not specified [RCV001195373] | likely pathogenic|uncertain significance | 14 | 76482037 | 76482037 | Human | 3 | name |
| 126910866 | CV1053360 | single nucleotide variant | NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp) | Hearing impairment [RCV001375464]|not provided [RCV002284488]|not specified [RCV004037623] | uncertain significance | 14 | 76491623 | 76491623 | Human | 2 | name |
| 150553030 | CV1298041 | single nucleotide variant | NM_001379180.1(ESRRB):c.1268C>T (p.Thr423Met) | not provided [RCV001768654] | uncertain significance | 14 | 76498361 | 76498361 | Human | | name |
| 150542265 | CV1303626 | single nucleotide variant | NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu) | not provided [RCV001769316] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 76498453 | 76498453 | Human | | name |
| 151842394 | CV1379664 | single nucleotide variant | NM_001379180.1(ESRRB):c.1028G>A (p.Arg343Gln) | not provided [RCV001936276]|not specified [RCV004041851] | uncertain significance | 14 | 76491624 | 76491624 | Human | | name |
| 151752595 | CV1407180 | single nucleotide variant | NM_001379180.1(ESRRB):c.1111G>A (p.Ala371Thr) | not provided [RCV002023540] | uncertain significance | 14 | 76491707 | 76491707 | Human | | name |
| 151841599 | CV1435818 | single nucleotide variant | NM_001379180.1(ESRRB):c.1129T>C (p.Tyr377His) | not provided [RCV001956820] | uncertain significance | 14 | 76498222 | 76498222 | Human | | name |
| 151805047 | CV1444273 | single nucleotide variant | NM_001379180.1(ESRRB):c.1163A>G (p.Gln388Arg) | not provided [RCV001932661] | uncertain significance | 14 | 76498256 | 76498256 | Human | | name |
| 151799857 | CV1479913 | single nucleotide variant | NM_001379180.1(ESRRB):c.1138G>C (p.Asp380His) | not provided [RCV001898963] | uncertain significance | 14 | 76498231 | 76498231 | Human | | name |
| 151734835 | CV1508750 | single nucleotide variant | NM_001379180.1(ESRRB):c.1007C>T (p.Ala336Val) | not provided [RCV002021684] | uncertain significance | 14 | 76491603 | 76491603 | Human | | name |
| 152127315 | CV1615228 | single nucleotide variant | NM_001379180.1(ESRRB):c.1208G>A (p.Arg403His) | not provided [RCV002082394]|not specified [RCV004017902] | likely benign | 14 | 76498301 | 76498301 | Human | | name |
| 155265544 | CV1695687 | single nucleotide variant | NM_001379180.1(ESRRB):c.1177G>C (p.Glu393Gln) | not provided [RCV002280418] | uncertain significance | 14 | 76498270 | 76498270 | Human | | name |
| 9691634 | CV176090 | single nucleotide variant | NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter) | Rare genetic deafness [RCV000150664] | likely pathogenic | 14 | 76498317 | 76498317 | Human | | name |
| 156419772 | CV1970563 | single nucleotide variant | NM_001379180.1(ESRRB):c.1176C>A (p.His392Gln) | not provided [RCV002613015] | uncertain significance | 14 | 76498269 | 76498269 | Human | | name |
| 156144129 | CV2134326 | single nucleotide variant | NM_001379180.1(ESRRB):c.1031C>T (p.Ala344Val) | not provided [RCV002982422]|not specified [RCV004617139] | uncertain significance | 14 | 76491627 | 76491627 | Human | | name |
| 156267183 | CV2140136 | single nucleotide variant | NM_001379180.1(ESRRB):c.1077G>C (p.Lys359Asn) | not provided [RCV003009136] | uncertain significance | 14 | 76491673 | 76491673 | Human | | name |
| 156193399 | CV2223262 | single nucleotide variant | NM_001379180.1(ESRRB):c.1289A>T (p.His430Leu) | not specified [RCV004105881] | uncertain significance | 14 | 76498382 | 76498382 | Human | | name |
| 8559961 | CV22539 | single nucleotide variant | NM_001379180.1(ESRRB):c.1087G>T (p.Val363Leu) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000007929] | pathogenic | 14 | 76491683 | 76491683 | Human | 1 | name |
| 12907346 | CV227360 | single nucleotide variant | NM_001379180.1(ESRRB):c.1207C>T (p.Arg403Cys) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000490341]|ESRRB-related disorder [RCV003927894]|not provided [RCV001510445]|not specified [RCV004017498] | benign|likely benign|uncertain significance | 14 | 76498300 | 76498300 | Human | 1 | name , trait , alternate_id |
| 11088237 | CV230542 | single nucleotide variant | NM_001379180.1(ESRRB):c.1006G>A (p.Ala336Thr) | not specified [RCV000213331] | likely benign | 14 | 76491602 | 76491602 | Human | | name |
| 156450999 | CV2402375 | single nucleotide variant | NM_001379180.1(ESRRB):c.1108C>T (p.Leu370Phe) | not provided [RCV003123174] | uncertain significance | 14 | 76491704 | 76491704 | Human | | name |
| 401890050 | CV2758476 | single nucleotide variant | NM_001379180.1(ESRRB):c.1049G>A (p.Arg350His) | ESRRB-related disorder [RCV004758934]|not specified [RCV004335124] | uncertain significance | 14 | 76491645 | 76491645 | Human | 1 | name , trait , alternate_id |
| 407481111 | CV3442270 | single nucleotide variant | NM_001379180.1(ESRRB):c.1000C>T (p.Arg334Cys) | not specified [RCV004618146] | uncertain significance | 14 | 76491596 | 76491596 | Human | | name |
| 407481124 | CV3442272 | single nucleotide variant | NM_001379180.1(ESRRB):c.1261C>T (p.Arg421Trp) | not specified [RCV004618148] | uncertain significance | 14 | 76498354 | 76498354 | Human | | name |
| 597949517 | CV3818581 | single nucleotide variant | NM_001379180.1(ESRRB):c.1171C>G (p.Leu391Val) | not provided [RCV005160842] | uncertain significance | 14 | 76498264 | 76498264 | Human | | name |
| 598193129 | CV3958278 | single nucleotide variant | NM_001379180.1(ESRRB):c.1295A>G (p.Tyr432Cys) | not specified [RCV005335128] | uncertain significance | 14 | 76498388 | 76498388 | Human | | name |
| 598193139 | CV3958280 | single nucleotide variant | NM_001379180.1(ESRRB):c.1103T>G (p.Leu368Arg) | not specified [RCV005335130] | uncertain significance | 14 | 76491699 | 76491699 | Human | | name |
| 617149092 | CV4021518 | single nucleotide variant | NM_001379180.1(ESRRB):c.1148C>T (p.Ala383Val) | not provided [RCV005425487] | uncertain significance | 14 | 76498241 | 76498241 | Human | | name |
| 13436095 | CV433534 | single nucleotide variant | NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys) | not provided [RCV000506560]|not specified [RCV004917638] | conflicting interpretations of pathogenicity|uncertain significance | 14 | 76498270 | 76498270 | Human | | name |
| 13534941 | CV497458 | single nucleotide variant | NM_001379180.1(ESRRB):c.1229C>T (p.Thr410Met) | not provided [RCV001854132]|not specified [RCV000602054] | uncertain significance | 14 | 76498322 | 76498322 | Human | | name |
| 8607832 | CV54162 | single nucleotide variant | NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000999974]|not provided [RCV000991971]|not specified [RCV000038134] | benign|likely benign | 14 | 76498312 | 76498312 | Human | 1 | name |
| 8607833 | CV54163 | single nucleotide variant | NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile) | Autosomal recessive nonsyndromic hearing loss 35 [RCV001120585]|not provided [RCV000991972]|not specified [RCV000038135] | benign|likely benign|conflicting interpretations of pathogenicity | 14 | 76498393 | 76498393 | Human | 1 | name |
| 14703075 | CV654763 | single nucleotide variant | NM_001379180.1(ESRRB):c.1147G>A (p.Ala383Thr) | not provided [RCV005001121]|not specified [RCV000825038] | uncertain significance | 14 | 76498240 | 76498240 | Human | | name |
| 150448457 | CV1270463 | insertion | NM_001379180.1(ESRRB):c.1121-265_1121-264insCA | not provided [RCV001691601] | benign | 14 | 76497948 | 76497949 | Human | | name |
| 9687761 | CV175407 | deletion | NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?) | Rare genetic deafness [RCV000150659] | likely pathogenic | 14 | 76500695 | 76500721 | Human | | name |
| 156202388 | CV1895370 | inversion | NM_001379180.1(ESRRB):c.948_949inv (p.Asp317Asn) | not provided [RCV003084262] | likely benign | 14 | 76491544 | 76491545 | Human | | name |
| 9690096 | CV175947 | deletion | NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs) | Rare genetic deafness [RCV000155747] | likely pathogenic | 14 | 76498361 | 76498365 | Human | | name |
| 8559959 | CV22537 | duplication | NM_001379180.1(ESRRB):c.1081_1087dup (p.Val363fs) | Autosomal recessive nonsyndromic hearing loss 35 [RCV000007927] | pathogenic | 14 | 76491675 | 76491676 | Human | 1 | name |
| 11092480 | CV230543 | microsatellite | NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) | Rare genetic deafness [RCV000218592] | likely pathogenic | 14 | 76491682 | 76491683 | Human | | name |
