| 150427399 | CV1187818 | single nucleotide variant | NM_139319.3(SLC17A8):c.*6G>C | SLC17A8-related disorder [RCV003910882]|not provided [RCV001560874] | likely benign | 12 | 100420165 | 100420165 | Human | 1 | name , trait , alternate_id |
| 11606917 | CV315655 | single nucleotide variant | NM_139319.3(SLC17A8):c.-88A>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000337331] | uncertain significance | 12 | 100357304 | 100357304 | Human | 1 | name |
| 11611559 | CV315659 | single nucleotide variant | NM_139319.3(SLC17A8):c.-32T>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV000396555] | uncertain significance | 12 | 100357360 | 100357360 | Human | 1 | name |
| 11611510 | CV315682 | single nucleotide variant | NM_139319.3(SLC17A8):c.*71T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000395766]|not provided [RCV001538779] | benign|likely benign | 12 | 100420230 | 100420230 | Human | 1 | name |
| 11607632 | CV322498 | single nucleotide variant | NM_139319.3(SLC17A8):c.*39A>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000345750]|not provided [RCV001672463] | benign | 12 | 100420198 | 100420198 | Human | 1 | name |
| 28869864 | CV869011 | single nucleotide variant | NM_139319.3(SLC17A8):c.-93A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113302] | uncertain significance | 12 | 100357299 | 100357299 | Human | 1 | name |
| 28869867 | CV869012 | single nucleotide variant | NM_139319.3(SLC17A8):c.-72A>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113303] | uncertain significance | 12 | 100357320 | 100357320 | Human | 1 | name |
| 11604546 | CV315683 | single nucleotide variant | NM_139319.3(SLC17A8):c.*178G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV000310413] | uncertain significance | 12 | 100420337 | 100420337 | Human | 1 | name |
| 11609666 | CV315688 | single nucleotide variant | NM_139319.3(SLC17A8):c.*507G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV000371080] | benign|likely benign | 12 | 100420666 | 100420666 | Human | 1 | name |
| 11654417 | CV315690 | single nucleotide variant | NM_139319.3(SLC17A8):c.*715A>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000317565] | uncertain significance | 12 | 100420874 | 100420874 | Human | 1 | name |
| 11660242 | CV322520 | single nucleotide variant | NM_139319.3(SLC17A8):c.*244G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV000365060] | uncertain significance | 12 | 100420403 | 100420403 | Human | 1 | name |
| 11653578 | CV322536 | single nucleotide variant | NM_139319.3(SLC17A8):c.*357A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV000311699] | uncertain significance | 12 | 100420516 | 100420516 | Human | 1 | name |
| 11600784 | CV322537 | single nucleotide variant | NM_139319.3(SLC17A8):c.*534T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000276542] | uncertain significance | 12 | 100420693 | 100420693 | Human | 1 | name |
| 11616385 | CV328717 | single nucleotide variant | NM_139319.3(SLC17A8):c.-218T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000293734]|not provided [RCV001672462] | benign|likely benign | 12 | 100357174 | 100357174 | Human | 1 | name |
| 11647216 | CV329947 | single nucleotide variant | NM_139319.3(SLC17A8):c.*335C>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV000275154] | uncertain significance | 12 | 100420494 | 100420494 | Human | 1 | name |
| 11623368 | CV329948 | single nucleotide variant | NM_139319.3(SLC17A8):c.*817A>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV000371762] | benign|likely benign | 12 | 100420976 | 100420976 | Human | 1 | name |
| 28911863 | CV869008 | single nucleotide variant | NM_139319.3(SLC17A8):c.-311G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111288] | uncertain significance | 12 | 100357081 | 100357081 | Human | 1 | name |
| 28911864 | CV869009 | single nucleotide variant | NM_139319.3(SLC17A8):c.-295C>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111289] | uncertain significance | 12 | 100357097 | 100357097 | Human | 1 | name |
| 28869861 | CV869010 | single nucleotide variant | NM_139319.3(SLC17A8):c.-246T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113301]|not provided [RCV004704407] | likely benign | 12 | 100357146 | 100357146 | Human | 1 | name |
| 28872977 | CV869025 | single nucleotide variant | NM_139319.3(SLC17A8):c.*209T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114783] | uncertain significance | 12 | 100420368 | 100420368 | Human | 1 | name |
| 28910410 | CV869026 | single nucleotide variant | NM_139319.3(SLC17A8):c.*473T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV001109148] | likely benign | 12 | 100420632 | 100420632 | Human | 1 | name |
| 28910411 | CV869027 | single nucleotide variant | NM_139319.3(SLC17A8):c.*480C>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV001109149] | likely benign | 12 | 100420639 | 100420639 | Human | 1 | name |
| 28910412 | CV869028 | single nucleotide variant | NM_139319.3(SLC17A8):c.*540A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV001109150] | uncertain significance | 12 | 100420699 | 100420699 | Human | 1 | name |
| 28912011 | CV869029 | single nucleotide variant | NM_139319.3(SLC17A8):c.*541G>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111491] | uncertain significance | 12 | 100420700 | 100420700 | Human | 1 | name |
| 28912012 | CV869030 | single nucleotide variant | NM_139319.3(SLC17A8):c.*542G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111492] | uncertain significance | 12 | 100420701 | 100420701 | Human | 1 | name |
| 28912013 | CV869031 | single nucleotide variant | NM_139319.3(SLC17A8):c.*671C>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111493] | uncertain significance | 12 | 100420830 | 100420830 | Human | 1 | name |
| 150335840 | CV1172324 | single nucleotide variant | NM_139319.3(SLC17A8):c.473+2T>C | not provided [RCV001540728] | uncertain significance | 12 | 100391121 | 100391121 | Human | | name |
| 8653461 | CV130036 | single nucleotide variant | NM_139319.2(SLC17A8):c.-1105C>A | Lung cancer [RCV000110523] | uncertain significance | 12 | 100356287 | 100356287 | Human | | name |
| 152165804 | CV1618055 | duplication | NM_139319.3(SLC17A8):c.474-3dup | not provided [RCV002204318] | benign | 12 | 100393361 | 100393362 | Human | | name |
| 9688128 | CV175382 | single nucleotide variant | NM_139319.3(SLC17A8):c.355-4C>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV000269634]|not provided [RCV000965248]|not specified [RCV000151879] | benign|likely benign | 12 | 100390997 | 100390997 | Human | 1 | name |
| 9690512 | CV175527 | single nucleotide variant | NM_139319.3(SLC17A8):c.354+4G>C | not specified [RCV000156192] | uncertain significance | 12 | 100380957 | 100380957 | Human | | name |
| 155983356 | CV1979462 | single nucleotide variant | NM_139319.3(SLC17A8):c.676+3G>A | not provided [RCV002617702] | uncertain significance | 12 | 100396420 | 100396420 | Human | | name |
| 156326568 | CV2068644 | single nucleotide variant | NM_139319.3(SLC17A8):c.676+9A>G | not provided [RCV002835049] | uncertain significance | 12 | 100396426 | 100396426 | Human | | name |
| 405218899 | CV3034963 | single nucleotide variant | NM_139319.3(SLC17A8):c.676+8T>C | not provided [RCV003709681] | likely benign | 12 | 100396425 | 100396425 | Human | | name |
| 405253011 | CV3044200 | single nucleotide variant | NM_139319.3(SLC17A8):c.903+9A>G | not provided [RCV003722392] | likely benign | 12 | 100402488 | 100402488 | Human | | name |
| 405131697 | CV3115125 | single nucleotide variant | NM_139319.3(SLC17A8):c.102-5T>C | not provided [RCV003815970] | likely benign | 12 | 100380696 | 100380696 | Human | | name |
| 11660384 | CV315661 | single nucleotide variant | NM_139319.3(SLC17A8):c.354+7A>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV000366431] | uncertain significance | 12 | 100380960 | 100380960 | Human | 1 | name |
| 11607503 | CV315696 | duplication | NM_139319.3(SLC17A8):c.*1521dup | Nonsyndromic Hearing Loss, Dominant [RCV000344089]|not provided [RCV004693076] | uncertain significance | 12 | 100421658 | 100421659 | Human | 1 | name |
| 11663488 | CV315698 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1587A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV000396375] | uncertain significance | 12 | 100421746 | 100421746 | Human | 1 | name |
| 11651841 | CV315699 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1716C>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV000301086] | uncertain significance | 12 | 100421875 | 100421875 | Human | 1 | name |
| 405224779 | CV3158841 | single nucleotide variant | NM_139319.3(SLC17A8):c.474-5C>A | not provided [RCV003864143] | likely benign | 12 | 100393364 | 100393364 | Human | | name |
| 11661545 | CV322563 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1306C>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV000377612] | uncertain significance | 12 | 100421465 | 100421465 | Human | 1 | name |
| 11654086 | CV322591 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1502T>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV000314757] | uncertain significance | 12 | 100421661 | 100421661 | Human | 1 | name |
| 11645031 | CV328758 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1140T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000263100] | uncertain significance | 12 | 100421299 | 100421299 | Human | 1 | name |
| 11618845 | CV328759 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1295T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV000318288] | benign|likely benign | 12 | 100421454 | 100421454 | Human | 1 | name |
| 11661614 | CV328767 | duplication | NM_139319.3(SLC17A8):c.*1498dup | Nonsyndromic Hearing Loss, Dominant [RCV000378397] | uncertain significance | 12 | 100421656 | 100421657 | Human | 1 | name |
| 11648596 | CV329949 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1486A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV000282829] | uncertain significance | 12 | 100421645 | 100421645 | Human | 1 | name |
| 408386864 | CV3524267 | single nucleotide variant | NM_139319.3(SLC17A8):c.676+3G>C | not provided [RCV004768141] | uncertain significance | 12 | 100396420 | 100396420 | Human | | name |
| 596923499 | CV3530454 | single nucleotide variant | NM_139319.3(SLC17A8):c.764-6C>G | not provided [RCV004777053] | uncertain significance | 12 | 100402334 | 100402334 | Human | | name |
| 14693486 | CV620838 | single nucleotide variant | NM_139319.3(SLC17A8):c.903+1G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV000779086] | uncertain significance | 12 | 100402480 | 100402480 | Human | | name |
| 28912014 | CV869032 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1077A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111494] | uncertain significance | 12 | 100421236 | 100421236 | Human | 1 | name |
| 28912015 | CV869033 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1090A>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111495] | likely benign | 12 | 100421249 | 100421249 | Human | 1 | name |
| 28870270 | CV869034 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1223T>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113484] | uncertain significance | 12 | 100421382 | 100421382 | Human | 1 | name |
| 28870273 | CV869035 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1243A>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113485] | likely benign | 12 | 100421402 | 100421402 | Human | 1 | name |
| 28873213 | CV869036 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1839A>G | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114896] | likely benign | 12 | 100421998 | 100421998 | Human | 1 | name |
| 28873216 | CV869037 | single nucleotide variant | NM_139319.3(SLC17A8):c.*1883T>C | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114897] | uncertain significance | 12 | 100422042 | 100422042 | Human | 1 | name |
| 28911946 | CV872167 | single nucleotide variant | NM_139319.3(SLC17A8):c.903+5G>A | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111388] | uncertain significance | 12 | 100402484 | 100402484 | Human | 1 | name |
| 150332475 | CV1169494 | single nucleotide variant | NM_139319.3(SLC17A8):c.474-52T>C | not provided [RCV001536899] | benign | 12 | 100393317 | 100393317 | Human | | name |
| 150405485 | CV1191312 | single nucleotide variant | NM_139319.3(SLC17A8):c.473+34A>G | not provided [RCV001564303] | likely benign | 12 | 100391153 | 100391153 | Human | | name |
| 150463818 | CV1237687 | single nucleotide variant | NM_139319.3(SLC17A8):c.763+58A>G | not provided [RCV001649693] | benign | 12 | 100401921 | 100401921 | Human | | name |
| 150434917 | CV1244070 | single nucleotide variant | NM_139319.3(SLC17A8):c.589-22C>T | not provided [RCV001665277] | likely benign | 12 | 100396308 | 100396308 | Human | | name |
| 150505782 | CV1254703 | single nucleotide variant | NM_139319.3(SLC17A8):c.102-24C>A | not provided [RCV001678008] | benign | 12 | 100380677 | 100380677 | Human | | name |
| 151884598 | CV1412471 | duplication | NM_139319.3(SLC17A8):c.1297+4dup | not provided [RCV001887182] | uncertain significance | 12 | 100412882 | 100412883 | Human | | name |
| 151821690 | CV1449649 | single nucleotide variant | NM_139319.3(SLC17A8):c.473+16A>G | not provided [RCV002013448] | likely benign|uncertain significance | 12 | 100391135 | 100391135 | Human | | name |
| 152058615 | CV1535939 | single nucleotide variant | NM_139319.3(SLC17A8):c.473+13G>A | not provided [RCV002146523] | likely benign | 12 | 100391132 | 100391132 | Human | | name |
| 152140639 | CV1571188 | single nucleotide variant | NM_139319.3(SLC17A8):c.102-18A>G | not provided [RCV002138131] | likely benign | 12 | 100380683 | 100380683 | Human | | name |
| 152043134 | CV1624358 | single nucleotide variant | NM_139319.3(SLC17A8):c.473+17T>C | not provided [RCV002126347] | likely benign | 12 | 100391136 | 100391136 | Human | | name |
| 155797423 | CV1859312 | single nucleotide variant | NM_139319.3(SLC17A8):c.1187-3C>T | not provided [RCV002464940] | uncertain significance | 12 | 100412767 | 100412767 | Human | | name |
| 156417123 | CV1919468 | single nucleotide variant | NM_139319.3(SLC17A8):c.1053+8C>T | not provided [RCV002610545] | likely benign | 12 | 100402753 | 100402753 | Human | | name |
| 155951359 | CV1936089 | single nucleotide variant | NM_139319.3(SLC17A8):c.1298-5T>A | not provided [RCV002511741] | uncertain significance | 12 | 100418024 | 100418024 | Human | | name |
| 156220703 | CV1981277 | single nucleotide variant | NM_139319.3(SLC17A8):c.1054-1G>C | not provided [RCV002626435] | uncertain significance | 12 | 100404037 | 100404037 | Human | | name |
| 156228354 | CV2048549 | single nucleotide variant | NM_139319.3(SLC17A8):c.474-14C>A | not provided [RCV002790896] | likely benign | 12 | 100393355 | 100393355 | Human | | name |
| 11547033 | CV254372 | single nucleotide variant | NM_139319.3(SLC17A8):c.354+16T>C | not provided [RCV001582889]|not specified [RCV000247233] | benign|likely benign | 12 | 100380969 | 100380969 | Human | | name |
| 405041419 | CV3064006 | single nucleotide variant | NM_139319.3(SLC17A8):c.1298-4G>A | not provided [RCV003739926] | likely benign | 12 | 100418025 | 100418025 | Human | | name |
| 404987939 | CV3179776 | single nucleotide variant | NM_139319.3(SLC17A8):c.589-17T>C | not provided [RCV003881253] | likely benign | 12 | 100396313 | 100396313 | Human | | name |
| 597853356 | CV3743374 | single nucleotide variant | NM_139319.3(SLC17A8):c.588+20C>T | not provided [RCV005060724] | likely benign | 12 | 100393503 | 100393503 | Human | | name |
| 597877003 | CV3825715 | single nucleotide variant | NM_139319.3(SLC17A8):c.588+11C>T | not provided [RCV005177589] | likely benign | 12 | 100393494 | 100393494 | Human | | name |
| 598125894 | CV3885968 | single nucleotide variant | NM_139319.3(SLC17A8):c.355-12T>G | not provided [RCV005241771] | uncertain significance | 12 | 100390989 | 100390989 | Human | | name |
| 14746337 | CV666179 | single nucleotide variant | NM_139319.3(SLC17A8):c.764-49C>T | not provided [RCV000844337] | benign | 12 | 100402291 | 100402291 | Human | | name |
| 150336202 | CV1165043 | duplication | NM_139319.3(SLC17A8):c.676+183dup | not provided [RCV001530737] | likely benign | 12 | 100396583 | 100396584 | Human | | name |
| 150339515 | CV1167536 | single nucleotide variant | NM_139319.3(SLC17A8):c.588+208T>C | not provided [RCV001534292] | likely benign | 12 | 100393691 | 100393691 | Human | | name |
| 150333261 | CV1169493 | single nucleotide variant | NM_139319.3(SLC17A8):c.474-300G>A | not provided [RCV001537240] | benign | 12 | 100393069 | 100393069 | Human | | name |
| 150331228 | CV1172325 | single nucleotide variant | NM_139319.3(SLC17A8):c.1187-45C>T | Autosomal dominant nonsyndromic hearing loss 25 [RCV001807421]|not provided [RCV001538544] | benign | 12 | 100412725 | 100412725 | Human | 1 | name |
| 150406245 | CV1177525 | single nucleotide variant | NM_139319.3(SLC17A8):c.354+230A>T | not provided [RCV001545207] | likely benign | 12 | 100381183 | 100381183 | Human | | name |
| 150409582 | CV1177527 | single nucleotide variant | NM_139319.3(SLC17A8):c.676+110T>A | not provided [RCV001546305] | likely benign | 12 | 100396527 | 100396527 | Human | | name |
| 150418275 | CV1180914 | single nucleotide variant | NM_139319.3(SLC17A8):c.588+192T>C | not provided [RCV001550527] | likely benign | 12 | 100393675 | 100393675 | Human | | name |
| 150416912 | CV1180915 | single nucleotide variant | NM_139319.3(SLC17A8):c.1187-10C>T | SLC17A8-related disorder [RCV003910869]|not provided [RCV001549882] | likely benign | 12 | 100412760 | 100412760 | Human | 1 | name , trait , alternate_id |
| 150424900 | CV1184606 | single nucleotide variant | NM_139319.3(SLC17A8):c.589-173G>A | not provided [RCV001557281] | likely benign | 12 | 100396157 | 100396157 | Human | | name |
| 150425185 | CV1184607 | single nucleotide variant | NM_139319.3(SLC17A8):c.1298-42T>G | not provided [RCV001557675] | likely benign | 12 | 100417987 | 100417987 | Human | | name |
| 150466075 | CV1201184 | single nucleotide variant | NM_139319.3(SLC17A8):c.473+329G>A | not provided [RCV001587664] | likely benign | 12 | 100391448 | 100391448 | Human | | name |
| 150475772 | CV1202292 | single nucleotide variant | NM_139319.3(SLC17A8):c.589-278G>C | not provided [RCV001589535] | likely benign | 12 | 100396052 | 100396052 | Human | | name |
| 150471411 | CV1209542 | deletion | NM_139319.3(SLC17A8):c.676+183del | not provided [RCV001588653] | likely benign | 12 | 100396584 | 100396584 | Human | | name |
| 150444865 | CV1215396 | single nucleotide variant | NM_139319.3(SLC17A8):c.102-310A>G | not provided [RCV001610989] | benign | 12 | 100380391 | 100380391 | Human | | name |
| 150476434 | CV1218476 | single nucleotide variant | NM_139319.3(SLC17A8):c.1425+23T>C | not provided [RCV001616103] | benign | 12 | 100418179 | 100418179 | Human | | name |
| 150470090 | CV1219183 | single nucleotide variant | NM_139319.3(SLC17A8):c.354+173C>G | not provided [RCV001614935] | benign | 12 | 100381126 | 100381126 | Human | | name |
| 150484443 | CV1222495 | single nucleotide variant | NM_139319.3(SLC17A8):c.1298-58A>C | not provided [RCV001617498] | benign | 12 | 100417971 | 100417971 | Human | | name |
| 150491892 | CV1225378 | single nucleotide variant | NM_139319.3(SLC17A8):c.677-244A>G | not provided [RCV001618893] | benign | 12 | 100401533 | 100401533 | Human | | name |
| 150470913 | CV1269957 | single nucleotide variant | NM_139319.3(SLC17A8):c.474-197C>T | not provided [RCV001695244] | benign | 12 | 100393172 | 100393172 | Human | | name |
| 150460841 | CV1275879 | single nucleotide variant | NM_139319.3(SLC17A8):c.763+153A>G | not provided [RCV001709817] | benign | 12 | 100402016 | 100402016 | Human | | name |
| 150467531 | CV1277586 | single nucleotide variant | NM_139319.3(SLC17A8):c.1298-80C>T | not provided [RCV001710881] | benign | 12 | 100417949 | 100417949 | Human | | name |
| 150510046 | CV1286648 | single nucleotide variant | NM_139319.3(SLC17A8):c.589-256T>C | not provided [RCV001720883] | benign | 12 | 100396074 | 100396074 | Human | | name |
| 150510055 | CV1286653 | single nucleotide variant | NM_139319.3(SLC17A8):c.677-281C>T | not provided [RCV001720888] | benign | 12 | 100401496 | 100401496 | Human | | name |
| 152170391 | CV1651061 | single nucleotide variant | NM_139319.3(SLC17A8):c.1425+11C>A | not provided [RCV002143103] | likely benign | 12 | 100418167 | 100418167 | Human | | name |
| 9690514 | CV175384 | duplication | NM_139319.3(SLC17A8):c.1298-14dup | not provided [RCV003764965]|not specified [RCV000156194] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 100418011 | 100418012 | Human | | name |
| 156411863 | CV1973781 | single nucleotide variant | NM_139319.3(SLC17A8):c.1426-18C>A | not provided [RCV002608372]|not specified [RCV003155484] | likely benign|uncertain significance | 12 | 100419797 | 100419797 | Human | | name |
| 155906516 | CV2048199 | single nucleotide variant | NM_139319.3(SLC17A8):c.1298-17T>A | not provided [RCV002771295] | benign | 12 | 100418012 | 100418012 | Human | | name |
| 597833639 | CV3760471 | single nucleotide variant | NM_139319.3(SLC17A8):c.1297+17G>A | not provided [RCV005085214] | likely benign | 12 | 100412897 | 100412897 | Human | | name |
| 14746338 | CV666424 | single nucleotide variant | NM_139319.3(SLC17A8):c.1054-46C>G | not provided [RCV000844338] | benign | 12 | 100403992 | 100403992 | Human | | name |
| 150331313 | CV1169495 | single nucleotide variant | NM_139319.3(SLC17A8):c.1187-258G>A | not provided [RCV001536426] | benign | 12 | 100412512 | 100412512 | Human | | name |
| 150406679 | CV1177528 | duplication | NM_139319.3(SLC17A8):c.1426-269dup | not provided [RCV001545329] | likely benign | 12 | 100419532 | 100419533 | Human | | name |
| 150424286 | CV1184608 | deletion | NM_139319.3(SLC17A8):c.1426-269del | not provided [RCV001556461] | likely benign | 12 | 100419533 | 100419533 | Human | | name |
| 150433522 | CV1204111 | deletion | NM_139319.3(SLC17A8):c.1187-127del | not provided [RCV001581859] | likely benign | 12 | 100412634 | 100412634 | Human | | name |
| 150440856 | CV1204462 | single nucleotide variant | NM_139319.3(SLC17A8):c.1426-325G>A | not provided [RCV001583567] | likely benign | 12 | 100419490 | 100419490 | Human | | name |
| 150468303 | CV1207396 | single nucleotide variant | NM_139319.3(SLC17A8):c.1426-100C>T | not provided [RCV001588085] | likely benign | 12 | 100419715 | 100419715 | Human | | name |
| 150506296 | CV1213743 | single nucleotide variant | NM_139319.3(SLC17A8):c.1054-331A>G | not provided [RCV001596000] | benign | 12 | 100403707 | 100403707 | Human | | name |
| 150463632 | CV1263834 | duplication | NM_139319.3(SLC17A8):c.1187-159dup | not provided [RCV001682535] | benign | 12 | 100412592 | 100412593 | Human | | name |
| 150440540 | CV1265124 | deletion | NM_139319.3(SLC17A8):c.1187-159del | not provided [RCV001679117] | benign | 12 | 100412593 | 100412593 | Human | | name |
| 150450965 | CV1276533 | duplication | NM_139319.3(SLC17A8):c.1187-127dup | not provided [RCV001708322] | benign | 12 | 100412633 | 100412634 | Human | | name |
| 150492856 | CV1281466 | single nucleotide variant | NM_139319.3(SLC17A8):c.1426-106A>G | not provided [RCV001716891] | benign | 12 | 100419709 | 100419709 | Human | | name |
| 8653462 | CV130037 | single nucleotide variant | NM_139319.2(SLC17A8):c.101+10967A>G | Lung cancer [RCV000110524] | uncertain significance | 12 | 100368459 | 100368459 | Human | | name |
| 11608009 | CV315695 | duplication | NM_139319.3(SLC17A8):c.*1520_*1521dup | Nonsyndromic Hearing Loss, Dominant [RCV000349941] | uncertain significance | 12 | 100421658 | 100421659 | Human | 1 | name |
| 405745792 | CV3226309 | deletion | NM_139319.3(SLC17A8):c.903+1_903+6del | Autosomal dominant nonsyndromic hearing loss 25 [RCV003991300] | likely pathogenic | 12 | 100402475 | 100402480 | Human | 1 | name |
| 11615946 | CV329987 | deletion | NM_139319.3(SLC17A8):c.*1513_*1521del | Nonsyndromic Hearing Loss, Dominant [RCV000290335]|not provided [RCV004693077] | uncertain significance | 12 | 100421659 | 100421667 | Human | 1 | name |
| 150431028 | CV1206213 | single nucleotide variant | NM_139319.3(SLC17A8):c.15A>G (p.Ala5=) | not provided [RCV001580861] | benign|likely benign | 12 | 100357406 | 100357406 | Human | | name |
| 152152012 | CV1564974 | single nucleotide variant | NM_139319.3(SLC17A8):c.27C>T (p.Phe9=) | not provided [RCV002102370] | likely benign | 12 | 100357418 | 100357418 | Human | | name |
| 11609545 | CV322598 | insertion | NM_139319.3(SLC17A8):c.*1506_*1507insG | Nonsyndromic Hearing Loss, Dominant [RCV000369496] | likely benign | 12 | 100421665 | 100421666 | Human | 1 | name |
| 11655206 | CV329972 | insertion | NM_139319.3(SLC17A8):c.*1496_*1497insT | Nonsyndromic Hearing Loss, Dominant [RCV000323840] | uncertain significance | 12 | 100421655 | 100421656 | Human | 1 | name |
| 156357872 | CV1976938 | deletion | NM_139319.3(SLC17A8):c.677-18_677-15del | not provided [RCV002581515] | likely benign | 12 | 100401757 | 100401760 | Human | | name |
| 405199084 | CV3041023 | single nucleotide variant | NM_139319.3(SLC17A8):c.60A>T (p.Gly20=) | not provided [RCV003707265] | likely benign | 12 | 100357451 | 100357451 | Human | | name |
| 11663493 | CV315694 | insertion | NM_139319.3(SLC17A8):c.*1501_*1502insGT | Nonsyndromic Hearing Loss, Dominant [RCV000396379] | uncertain significance | 12 | 100421659 | 100421660 | Human | 1 | name |
| 11649668 | CV322570 | insertion | NM_139319.3(SLC17A8):c.*1498_*1499insTT | Nonsyndromic Hearing Loss, Dominant [RCV000288640] | uncertain significance | 12 | 100421656 | 100421657 | Human | 1 | name |
| 8610750 | CV57048 | single nucleotide variant | NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000336046]|not provided [RCV000973500]|not specified [RCV000041154] | benign|likely benign | 12 | 100357445 | 100357445 | Human | 1 | name |
| 150420550 | CV1198285 | single nucleotide variant | NM_139319.3(SLC17A8):c.237T>C (p.Ala79=) | not provided [RCV001577661] | likely benign | 12 | 100380836 | 100380836 | Human | | name |
| 150471103 | CV1209475 | single nucleotide variant | NM_139319.3(SLC17A8):c.17T>C (p.Phe6Ser) | Inborn genetic diseases [RCV004968225]|not provided [RCV001588586] | uncertain significance | 12 | 100357408 | 100357408 | Human | 1 | name |
| 9689775 | CV175526 | single nucleotide variant | NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000297494]|SLC17A8-related disorder [RCV003952783]|not provided [RCV000948401]|not specified [RCV000155387] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 100357414 | 100357414 | Human | 1 | name , trait , alternate_id |
| 405033745 | CV2931850 | single nucleotide variant | NM_139319.3(SLC17A8):c.162G>A (p.Pro54=) | not provided [RCV003578555] | likely benign | 12 | 100380761 | 100380761 | Human | | name |
| 11622246 | CV329917 | single nucleotide variant | NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000358240]|not provided [RCV002056253] | likely benign|uncertain significance | 12 | 100380809 | 100380809 | Human | 1 | name |
| 407507207 | CV3496251 | duplication | NM_139319.3(SLC17A8):c.37dup (p.Ile13fs) | not provided [RCV004698092] | uncertain significance | 12 | 100357422 | 100357423 | Human | | name |
| 8610748 | CV57046 | single nucleotide variant | NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000305950]|SLC17A8-related disorder [RCV003964889]|not provided [RCV002054804]|not specified [RCV000041152] | benign|likely benign | 12 | 100380770 | 100380770 | Human | 1 | name , trait , alternate_id |
| 15176731 | CV738376 | single nucleotide variant | NM_139319.3(SLC17A8):c.142C>T (p.Leu48=) | not provided [RCV000906494] | likely benign | 12 | 100380741 | 100380741 | Human | | name |
| 150443770 | CV1232922 | microsatellite | NM_139319.3(SLC17A8):c.354+177CATCTCAG[4] | not provided [RCV001645594] | benign | 12 | 100381130 | 100381137 | Human | | name |
| 151814482 | CV1382361 | single nucleotide variant | NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg) | Inborn genetic diseases [RCV004045512]|not provided [RCV001992151] | uncertain significance | 12 | 100357420 | 100357420 | Human | 1 | name |
| 10049116 | CV195778 | single nucleotide variant | NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111387]|not provided [RCV001697171]|not specified [RCV000180002] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 100402434 | 100402434 | Human | 1 | name |
| 156212508 | CV2088686 | single nucleotide variant | NM_139319.3(SLC17A8):c.765C>T (p.Gly255=) | SLC17A8-related disorder [RCV003916553]|not provided [RCV002893853] | likely benign | 12 | 100402341 | 100402341 | Human | 1 | name , trait , alternate_id |
| 155934467 | CV2153497 | single nucleotide variant | NM_139319.3(SLC17A8):c.591T>C (p.Gly197=) | not provided [RCV003013833] | likely benign | 12 | 100396332 | 100396332 | Human | | name |
| 156033638 | CV2256477 | single nucleotide variant | NM_139319.3(SLC17A8):c.81T>G (p.Asp27Glu) | Inborn genetic diseases [RCV002821236] | uncertain significance | 12 | 100357472 | 100357472 | Human | 1 | name |
| 401932399 | CV2816770 | single nucleotide variant | NM_139319.3(SLC17A8):c.504G>A (p.Ser168=) | not provided [RCV003391953] | likely benign | 12 | 100393399 | 100393399 | Human | | name |
| 401929576 | CV2816771 | single nucleotide variant | NM_139319.3(SLC17A8):c.573G>T (p.Leu191=) | not provided [RCV003390282] | likely benign | 12 | 100393468 | 100393468 | Human | | name |
| 402496223 | CV2875321 | single nucleotide variant | NM_139319.3(SLC17A8):c.945G>A (p.Pro315=) | not provided [RCV003545448] | likely benign | 12 | 100402637 | 100402637 | Human | | name |
| 405116452 | CV3115804 | single nucleotide variant | NM_139319.3(SLC17A8):c.330T>C (p.Tyr110=) | not provided [RCV003814294] | likely benign | 12 | 100380929 | 100380929 | Human | | name |
| 11610910 | CV315662 | single nucleotide variant | NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000387621]|SLC17A8-related disorder [RCV003957589]|not provided [RCV000886186] | benign|likely benign | 12 | 100401823 | 100401823 | Human | 1 | name , trait , alternate_id |
| 405227217 | CV3169557 | single nucleotide variant | NM_139319.3(SLC17A8):c.603A>G (p.Pro201=) | not provided [RCV003864581] | likely benign | 12 | 100396344 | 100396344 | Human | | name |
| 11614726 | CV328748 | single nucleotide variant | NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000279136] | uncertain significance | 12 | 100401862 | 100401862 | Human | 1 | name |
| 407424978 | CV3409201 | single nucleotide variant | NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter) | Autosomal dominant nonsyndromic hearing loss 25 [RCV004585132] | pathogenic | 12 | 100357434 | 100357434 | Human | 1 | name |
| 596920779 | CV3534256 | single nucleotide variant | NM_139319.3(SLC17A8):c.83C>A (p.Ser28Tyr) | not specified [RCV004783475] | uncertain significance | 12 | 100357474 | 100357474 | Human | | name |
| 597709401 | CV3596299 | single nucleotide variant | NM_139319.3(SLC17A8):c.53A>G (p.Lys18Arg) | Inborn genetic diseases [RCV004957859] | uncertain significance | 12 | 100357444 | 100357444 | Human | 1 | name |
| 597709408 | CV3596300 | single nucleotide variant | NM_139319.3(SLC17A8):c.62T>C (p.Val21Ala) | Inborn genetic diseases [RCV004957860] | uncertain significance | 12 | 100357453 | 100357453 | Human | 1 | name |
| 597920018 | CV3738029 | single nucleotide variant | NM_139319.3(SLC17A8):c.663A>G (p.Thr221=) | not provided [RCV005074628] | likely benign | 12 | 100396404 | 100396404 | Human | | name |
| 597840293 | CV3756063 | single nucleotide variant | NM_139319.3(SLC17A8):c.489C>T (p.Ala163=) | not provided [RCV005086335] | likely benign | 12 | 100393384 | 100393384 | Human | | name |
| 597947013 | CV3771593 | duplication | NM_139319.3(SLC17A8):c.164dup (p.Gln56fs) | not provided [RCV005120118] | uncertain significance | 12 | 100380762 | 100380763 | Human | | name |
| 597958473 | CV3797238 | single nucleotide variant | NM_139319.3(SLC17A8):c.402A>T (p.Gly134=) | not provided [RCV005137925] | likely benign | 12 | 100391048 | 100391048 | Human | | name |
| 597845827 | CV3827883 | single nucleotide variant | NM_139319.3(SLC17A8):c.898C>T (p.Leu300=) | not provided [RCV005172957] | likely benign | 12 | 100402474 | 100402474 | Human | | name |
| 13523288 | CV490584 | single nucleotide variant | NM_139319.3(SLC17A8):c.552C>T (p.Cys184=) | not provided [RCV000592802] | uncertain significance | 12 | 100393447 | 100393447 | Human | | name |
| 8610749 | CV57047 | single nucleotide variant | NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000309472]|not provided [RCV000893657]|not specified [RCV000041153] | benign|likely benign|conflicting interpretations of pathogenicity | 12 | 100380935 | 100380935 | Human | 1 | name |
| 8610751 | CV57049 | single nucleotide variant | NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000333169]|not provided [RCV000960479]|not specified [RCV000041155] | benign|likely benign | 12 | 100401811 | 100401811 | Human | 1 | name |
| 28910280 | CV869017 | single nucleotide variant | NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001109040]|not provided [RCV002556131] | likely benign|uncertain significance | 12 | 100401787 | 100401787 | Human | 1 | name |
| 127233852 | CV1065824 | duplication | NM_139319.3(SLC17A8):c.616dup (p.Met206fs) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001391305] | pathogenic | 12 | 100396356 | 100396357 | Human | 1 | name |
| 150527892 | CV1300896 | single nucleotide variant | NM_139319.3(SLC17A8):c.224G>A (p.Arg75His) | not provided [RCV001754756] | uncertain significance | 12 | 100380823 | 100380823 | Human | | name |
| 150541553 | CV1301518 | single nucleotide variant | NM_139319.3(SLC17A8):c.196G>A (p.Asp66Asn) | not provided [RCV001760984] | uncertain significance | 12 | 100380795 | 100380795 | Human | | name |
| 151848666 | CV1510551 | single nucleotide variant | NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu) | not provided [RCV001957682] | uncertain significance | 12 | 100380760 | 100380760 | Human | | name |
| 152981936 | CV1678877 | single nucleotide variant | NM_139319.3(SLC17A8):c.243G>A (p.Met81Ile) | not provided [RCV002248267] | uncertain significance | 12 | 100380842 | 100380842 | Human | | name |
| 153002224 | CV1685459 | single nucleotide variant | NM_139319.3(SLC17A8):c.200G>A (p.Cys67Tyr) | Inborn genetic diseases [RCV004047404]|not provided [RCV002259445] | uncertain significance | 12 | 100380799 | 100380799 | Human | 1 | name |
| 156413409 | CV1900938 | single nucleotide variant | NM_139319.3(SLC17A8):c.188C>G (p.Pro63Arg) | not provided [RCV002588158] | uncertain significance | 12 | 100380787 | 100380787 | Human | | name |
| 156142663 | CV1918198 | single nucleotide variant | NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg) | not provided [RCV002623716]|not specified [RCV003331440] | uncertain significance | 12 | 100380782 | 100380782 | Human | | name |
| 156436981 | CV1936804 | single nucleotide variant | NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=) | SLC17A8-related disorder [RCV003973756]|not provided [RCV003106508] | likely benign | 12 | 100404079 | 100404079 | Human | 1 | name , trait , alternate_id |
| 156039927 | CV2089592 | single nucleotide variant | NM_139319.3(SLC17A8):c.1662T>C (p.Asn554=) | not provided [RCV002867401] | likely benign | 12 | 100420051 | 100420051 | Human | | name |
| 156352046 | CV2118675 | single nucleotide variant | NM_139319.3(SLC17A8):c.1353G>C (p.Gly451=) | not provided [RCV002966371] | likely benign | 12 | 100418084 | 100418084 | Human | | name |
| 11091869 | CV230251 | single nucleotide variant | NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113390]|not provided [RCV002517506]|not specified [RCV000217844] | likely benign|uncertain significance | 12 | 100418135 | 100418135 | Human | 1 | name |
| 156382850 | CV2362967 | single nucleotide variant | NM_139319.3(SLC17A8):c.223C>A (p.Arg75Ser) | Inborn genetic diseases [RCV002679058] | uncertain significance | 12 | 100380822 | 100380822 | Human | 1 | name |
| 156451048 | CV2402425 | single nucleotide variant | NM_139319.3(SLC17A8):c.211G>A (p.Gly71Ser) | not provided [RCV003123224] | uncertain significance | 12 | 100380810 | 100380810 | Human | | name |
| 329952925 | CV2669634 | single nucleotide variant | NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys) | Auditory neuropathy spectrum disorder [RCV003984870]|not provided [RCV003234257] | pathogenic|uncertain significance | 12 | 100380822 | 100380822 | Human | 1 | name |
| 401895249 | CV2786288 | single nucleotide variant | NM_139319.3(SLC17A8):c.285T>A (p.Asn95Lys) | Inborn genetic diseases [RCV003372317] | uncertain significance | 12 | 100380884 | 100380884 | Human | 1 | name |
| 405195265 | CV2868715 | single nucleotide variant | NM_139319.3(SLC17A8):c.235G>A (p.Ala79Thr) | not provided [RCV003550787] | uncertain significance | 12 | 100380834 | 100380834 | Human | | name |
| 405187263 | CV2964077 | single nucleotide variant | NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala) | not provided [RCV003676815] | uncertain significance | 12 | 100380786 | 100380786 | Human | | name |
| 405189134 | CV3121372 | single nucleotide variant | NM_139319.3(SLC17A8):c.173C>T (p.Ser58Phe) | not provided [RCV003820828] | uncertain significance | 12 | 100380772 | 100380772 | Human | | name |
| 405135536 | CV3160255 | single nucleotide variant | NM_139319.3(SLC17A8):c.1116A>G (p.Gln372=) | not provided [RCV003855070] | likely benign | 12 | 100404100 | 100404100 | Human | | name |
| 405269733 | CV3187462 | single nucleotide variant | NM_139319.3(SLC17A8):c.1707C>A (p.Thr569=) | not provided [RCV003887546] | likely benign | 12 | 100420096 | 100420096 | Human | | name |
| 405269099 | CV3201275 | single nucleotide variant | NM_139319.3(SLC17A8):c.1068A>G (p.Ser356=) | SLC17A8-related disorder [RCV003899380] | likely benign | 12 | 100404052 | 100404052 | Human | | name , trait , alternate_id |
| 11625409 | CV328740 | single nucleotide variant | NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000398240]|not provided [RCV001799651] | uncertain significance | 12 | 100380717 | 100380717 | Human | 1 | name |
| 11613201 | CV328741 | single nucleotide variant | NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000265974]|Inborn genetic diseases [RCV002522216] | uncertain significance | 12 | 100380820 | 100380820 | Human | 2 | name |
| 405711842 | CV3328987 | single nucleotide variant | NM_139319.3(SLC17A8):c.262A>G (p.Ile88Val) | Inborn genetic diseases [RCV004448591] | uncertain significance | 12 | 100380861 | 100380861 | Human | 1 | name |
| 408366323 | CV3507930 | single nucleotide variant | NM_139319.3(SLC17A8):c.238A>C (p.Ile80Leu) | SLC17A8-related disorder [RCV004756606] | uncertain significance | 12 | 100380837 | 100380837 | Human | | name , trait , alternate_id |
| 408386288 | CV3528851 | single nucleotide variant | NM_139319.3(SLC17A8):c.1632G>A (p.Lys544=) | not provided [RCV004772684] | uncertain significance | 12 | 100420021 | 100420021 | Human | | name |
| 596922922 | CV3537467 | single nucleotide variant | NM_139319.3(SLC17A8):c.284A>G (p.Asn95Ser) | not provided [RCV004787437] | uncertain significance | 12 | 100380883 | 100380883 | Human | | name |
| 597963926 | CV3754234 | single nucleotide variant | NM_139319.3(SLC17A8):c.166C>A (p.Gln56Lys) | not provided [RCV005082341] | uncertain significance | 12 | 100380765 | 100380765 | Human | | name |
| 597904834 | CV3856314 | single nucleotide variant | NM_139319.3(SLC17A8):c.129A>C (p.Glu43Asp) | not provided [RCV005202542] | uncertain significance | 12 | 100380728 | 100380728 | Human | | name |
| 598268858 | CV3921713 | single nucleotide variant | NM_139319.3(SLC17A8):c.238A>G (p.Ile80Val) | Inborn genetic diseases [RCV005281846] | uncertain significance | 12 | 100380837 | 100380837 | Human | 1 | name |
| 13483578 | CV444903 | single nucleotide variant | NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114670]|not provided [RCV000522096] | uncertain significance | 12 | 100380769 | 100380769 | Human | 1 | name |
| 13515454 | CV490929 | single nucleotide variant | NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) | not provided [RCV000594299] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 100419967 | 100419967 | Human | | name |
| 13532992 | CV503515 | single nucleotide variant | NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) | Autosomal dominant nonsyndromic hearing loss 25 [RCV002498939]|not provided [RCV001698116] | likely benign | 12 | 100380831 | 100380831 | Human | 1 | name |
| 13705462 | CV536824 | single nucleotide variant | NM_139319.3(SLC17A8):c.139G>C (p.Glu47Gln) | Inborn genetic diseases [RCV003258915]|not provided [RCV000658007] | uncertain significance | 12 | 100380738 | 100380738 | Human | 1 | name |
| 14743113 | CV656102 | single nucleotide variant | NM_139319.3(SLC17A8):c.1362C>T (p.Asn454=) | not provided [RCV000841839] | likely benign | 12 | 100418093 | 100418093 | Human | | name |
| 15177741 | CV713271 | single nucleotide variant | NM_139319.3(SLC17A8):c.1299T>A (p.Gly433=) | not provided [RCV000973501] | likely benign | 12 | 100418030 | 100418030 | Human | | name |
| 15156200 | CV753038 | single nucleotide variant | NM_139319.3(SLC17A8):c.1128T>C (p.Tyr376=) | not provided [RCV000924622] | likely benign | 12 | 100404112 | 100404112 | Human | | name |
| 25319242 | CV805716 | deletion | NM_139319.3(SLC17A8):c.27_30del (p.Phe9fs) | not provided [RCV001008941] | likely pathogenic | 12 | 100357418 | 100357421 | Human | | name |
| 28872717 | CV869013 | single nucleotide variant | NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114667]|Inborn genetic diseases [RCV004960466]|not provided [RCV001759880] | uncertain significance | 12 | 100380708 | 100380708 | Human | 2 | name |
| 28872720 | CV869014 | single nucleotide variant | NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114668] | uncertain significance | 12 | 100380709 | 100380709 | Human | 1 | name |
| 28872722 | CV869015 | single nucleotide variant | NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114669] | uncertain significance | 12 | 100380723 | 100380723 | Human | 1 | name |
| 8634951 | CV90173 | single nucleotide variant | NM_139319.2(SLC17A8):c.1356C>T (p.Ile452=) | Malignant melanoma [RCV000070270] | not provided | 12 | 100418087 | 100418087 | Human | | name |
| 151234042 | CV1163807 | single nucleotide variant | NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001799521] | likely pathogenic | 12 | 100396375 | 100396375 | Human | 1 | name |
| 150414880 | CV1177526 | single nucleotide variant | NM_139319.3(SLC17A8):c.532G>A (p.Ala178Thr) | not provided [RCV001548328] | uncertain significance | 12 | 100393427 | 100393427 | Human | | name |
| 150425267 | CV1184609 | deletion | NM_139319.3(SLC17A8):c.1689del (p.Gly564fs) | not provided [RCV001557781] | uncertain significance | 12 | 100420076 | 100420076 | Human | | name |
| 150548664 | CV1294440 | single nucleotide variant | NM_139319.3(SLC17A8):c.959T>C (p.Ile320Thr) | not provided [RCV001751932] | uncertain significance | 12 | 100402651 | 100402651 | Human | | name |
| 150553192 | CV1298227 | single nucleotide variant | NM_139319.3(SLC17A8):c.842A>G (p.Asn281Ser) | not provided [RCV001768840] | uncertain significance | 12 | 100402418 | 100402418 | Human | | name |
| 150531839 | CV1302057 | single nucleotide variant | NM_139319.3(SLC17A8):c.547G>C (p.Gly183Arg) | not provided [RCV001757275] | uncertain significance | 12 | 100393442 | 100393442 | Human | | name |
| 151661761 | CV1329992 | single nucleotide variant | NM_139319.3(SLC17A8):c.737G>C (p.Gly246Ala) | not provided [RCV001823403] | uncertain significance | 12 | 100401837 | 100401837 | Human | | name |
| 151770718 | CV1483232 | single nucleotide variant | NM_139319.3(SLC17A8):c.485C>T (p.Ala162Val) | not provided [RCV001914952] | uncertain significance | 12 | 100393380 | 100393380 | Human | | name |
| 153347683 | CV1692199 | single nucleotide variant | NM_139319.3(SLC17A8):c.664A>T (p.Thr222Ser) | not provided [RCV002273684] | uncertain significance | 12 | 100396405 | 100396405 | Human | | name |
| 9692182 | CV175381 | single nucleotide variant | NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) | Inborn genetic diseases [RCV004019825]|not provided [RCV000839952]|not specified [RCV000151878] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 100380909 | 100380909 | Human | 1 | name |
| 9689677 | CV175383 | single nucleotide variant | NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) | not provided [RCV004772847]|not specified [RCV000155276] | uncertain significance | 12 | 100401805 | 100401805 | Human | | name |
| 9688129 | CV175528 | single nucleotide variant | NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) | not specified [RCV000151880] | uncertain significance | 12 | 100393442 | 100393442 | Human | | name |
| 9692183 | CV175529 | single nucleotide variant | NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) | not provided [RCV000993012]|not specified [RCV000151881] | uncertain significance | 12 | 100402430 | 100402430 | Human | | name |
| 155714162 | CV1780287 | single nucleotide variant | NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile) | not provided [RCV002305891] | uncertain significance | 12 | 100391002 | 100391002 | Human | | name |
| 8596030 | CV18148 | single nucleotide variant | NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000003256]|not provided [RCV000724921] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 12 | 100396373 | 100396373 | Human | 1 | name |
| 155796008 | CV1861593 | single nucleotide variant | NM_139319.3(SLC17A8):c.356C>G (p.Thr119Arg) | not provided [RCV002469876] | uncertain significance | 12 | 100391002 | 100391002 | Human | | name |
| 156405209 | CV1912994 | single nucleotide variant | NM_139319.3(SLC17A8):c.944C>T (p.Pro315Leu) | not provided [RCV002606277] | uncertain significance | 12 | 100402636 | 100402636 | Human | | name |
| 156147809 | CV1932332 | single nucleotide variant | NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile) | not provided [RCV002623895] | uncertain significance | 12 | 100380930 | 100380930 | Human | | name |
| 156010902 | CV2051417 | single nucleotide variant | NM_139319.3(SLC17A8):c.766A>T (p.Met256Leu) | not provided [RCV002820116] | uncertain significance | 12 | 100402342 | 100402342 | Human | | name |
| 156327748 | CV2068771 | single nucleotide variant | NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala) | not provided [RCV002835114] | uncertain significance | 12 | 100391089 | 100391089 | Human | | name |
| 156063608 | CV2228793 | single nucleotide variant | NM_139319.3(SLC17A8):c.635C>G (p.Pro212Arg) | Inborn genetic diseases [RCV002736955] | uncertain significance | 12 | 100396376 | 100396376 | Human | 1 | name |
| 329358536 | CV2450350 | single nucleotide variant | NM_139319.3(SLC17A8):c.320G>A (p.Ser107Asn) | Inborn genetic diseases [RCV003204062] | uncertain significance | 12 | 100380919 | 100380919 | Human | 1 | name |
| 329362505 | CV2463948 | single nucleotide variant | NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu) | Inborn genetic diseases [RCV003206061]|not provided [RCV003779725] | uncertain significance | 12 | 100380943 | 100380943 | Human | 1 | name |
| 401761238 | CV2689076 | single nucleotide variant | NM_139319.3(SLC17A8):c.349A>G (p.Ile117Val) | Inborn genetic diseases [RCV003280802] | uncertain significance | 12 | 100380948 | 100380948 | Human | 1 | name |
| 401777872 | CV2704416 | single nucleotide variant | NM_139319.3(SLC17A8):c.832A>G (p.Thr278Ala) | Inborn genetic diseases [RCV003286883] | uncertain significance | 12 | 100402408 | 100402408 | Human | 1 | name |
| 11643480 | CV270866 | single nucleotide variant | NM_139319.3(SLC17A8):c.584T>C (p.Val195Ala) | not provided [RCV000393723] | uncertain significance | 12 | 100393479 | 100393479 | Human | | name |
| 401766663 | CV2725662 | single nucleotide variant | NM_139319.3(SLC17A8):c.886A>T (p.Asn296Tyr) | Inborn genetic diseases [RCV003282634] | uncertain significance | 12 | 100402462 | 100402462 | Human | 1 | name |
| 401723762 | CV2737880 | single nucleotide variant | NM_139319.3(SLC17A8):c.398A>G (p.His133Arg) | not provided [RCV003315052] | uncertain significance | 12 | 100391044 | 100391044 | Human | | name |
| 401898900 | CV2792100 | single nucleotide variant | NM_139319.3(SLC17A8):c.733A>G (p.Ile245Val) | Inborn genetic diseases [RCV003377059] | uncertain significance | 12 | 100401833 | 100401833 | Human | 1 | name |
| 401917107 | CV2829666 | duplication | NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs) | Autosomal dominant nonsyndromic hearing loss 25 [RCV003455818]|not provided [RCV003443710] | uncertain significance | 12 | 100418055 | 100418056 | Human | 1 | name |
| 401917528 | CV2829898 | single nucleotide variant | NM_139319.3(SLC17A8):c.743C>T (p.Ser248Phe) | not provided [RCV003443942] | uncertain significance | 12 | 100401843 | 100401843 | Human | | name |
| 405201755 | CV2877193 | single nucleotide variant | NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala) | not provided [RCV003551343] | uncertain significance | 12 | 100380921 | 100380921 | Human | | name |
| 405020090 | CV3001952 | single nucleotide variant | NM_139319.3(SLC17A8):c.785A>C (p.Tyr262Ser) | not provided [RCV003694748] | uncertain significance | 12 | 100402361 | 100402361 | Human | | name |
| 405146459 | CV3141728 | single nucleotide variant | NM_139319.3(SLC17A8):c.830C>T (p.Pro277Leu) | Inborn genetic diseases [RCV004968501]|not provided [RCV003839650] | uncertain significance | 12 | 100402406 | 100402406 | Human | 1 | name |
| 11607087 | CV315669 | single nucleotide variant | NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000338898] | uncertain significance | 12 | 100402605 | 100402605 | Human | 1 | name |
| 11661273 | CV315671 | single nucleotide variant | NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000374723] | uncertain significance | 12 | 100402650 | 100402650 | Human | 1 | name |
| 11600368 | CV322494 | single nucleotide variant | NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000273450]|not provided [RCV003718169] | likely benign|uncertain significance | 12 | 100396399 | 100396399 | Human | 1 | name |
| 11619579 | CV329934 | single nucleotide variant | NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000327044] | uncertain significance | 12 | 100393425 | 100393425 | Human | 1 | name |
| 11624649 | CV329937 | single nucleotide variant | NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000388650]|Inborn genetic diseases [RCV004965392]|not provided [RCV000734057]|not specified [RCV003235185] | uncertain significance | 12 | 100396379 | 100396379 | Human | 2 | name |
| 407503243 | CV3477266 | single nucleotide variant | NM_139319.3(SLC17A8):c.500C>T (p.Thr167Ile) | Inborn genetic diseases [RCV004670186] | uncertain significance | 12 | 100393395 | 100393395 | Human | 1 | name |
| 408389120 | CV3529228 | single nucleotide variant | NM_139319.3(SLC17A8):c.888C>A (p.Asn296Lys) | not provided [RCV004774050] | uncertain significance | 12 | 100402464 | 100402464 | Human | | name |
| 596922933 | CV3530172 | single nucleotide variant | NM_139319.3(SLC17A8):c.889G>A (p.Val297Met) | not provided [RCV004776771] | uncertain significance | 12 | 100402465 | 100402465 | Human | | name |
| 597623113 | CV3552481 | single nucleotide variant | NM_139319.3(SLC17A8):c.797T>C (p.Leu266Pro) | Autosomal dominant nonsyndromic hearing loss 25 [RCV004821427] | uncertain significance | 12 | 100402373 | 100402373 | Human | 1 | name |
| 597709393 | CV3596298 | single nucleotide variant | NM_139319.3(SLC17A8):c.572T>C (p.Leu191Pro) | Inborn genetic diseases [RCV004957858] | uncertain significance | 12 | 100393467 | 100393467 | Human | 1 | name |
| 597853949 | CV3743562 | single nucleotide variant | NM_139319.3(SLC17A8):c.553G>A (p.Val185Ile) | not provided [RCV005060912] | uncertain significance | 12 | 100393448 | 100393448 | Human | | name |
| 597884280 | CV3780561 | single nucleotide variant | NM_139319.3(SLC17A8):c.439G>A (p.Gly147Ser) | not provided [RCV005124689] | uncertain significance | 12 | 100391085 | 100391085 | Human | | name |
| 597838703 | CV3828894 | single nucleotide variant | NM_139319.3(SLC17A8):c.920G>A (p.Trp307Ter) | not provided [RCV005171587] | uncertain significance | 12 | 100402612 | 100402612 | Human | | name |
| 598123649 | CV3884727 | single nucleotide variant | NM_139319.3(SLC17A8):c.914C>T (p.Thr305Ile) | not specified [RCV005238334] | uncertain significance | 12 | 100402606 | 100402606 | Human | | name |
| 598268848 | CV3921710 | single nucleotide variant | NM_139319.3(SLC17A8):c.325G>A (p.Val109Ile) | Inborn genetic diseases [RCV005281843] | uncertain significance | 12 | 100380924 | 100380924 | Human | 1 | name |
| 598172351 | CV3921711 | single nucleotide variant | NM_139319.3(SLC17A8):c.653G>A (p.Arg218Gln) | Autosomal dominant nonsyndromic hearing loss 25 [RCV005393027]|Inborn genetic diseases [RCV005281844] | uncertain significance | 12 | 100396394 | 100396394 | Human | 2 | name |
| 598268865 | CV3921715 | single nucleotide variant | NM_139319.3(SLC17A8):c.725T>C (p.Val242Ala) | Inborn genetic diseases [RCV005281848] | uncertain significance | 12 | 100401825 | 100401825 | Human | 1 | name |
| 598268873 | CV3921717 | single nucleotide variant | NM_139319.3(SLC17A8):c.424A>G (p.Met142Val) | Inborn genetic diseases [RCV005281850] | likely benign | 12 | 100391070 | 100391070 | Human | 1 | name |
| 617150502 | CV4017636 | single nucleotide variant | NM_139319.3(SLC17A8):c.658G>C (p.Ala220Pro) | not provided [RCV005417294] | uncertain significance | 12 | 100396399 | 100396399 | Human | | name |
| 617154186 | CV4022431 | single nucleotide variant | NM_139319.3(SLC17A8):c.683A>G (p.Tyr228Cys) | not provided [RCV005429788] | uncertain significance | 12 | 100401783 | 100401783 | Human | | name |
| 15124727 | CV753037 | single nucleotide variant | NM_139319.3(SLC17A8):c.389G>A (p.Gly130Asp) | not provided [RCV000919032] | likely benign | 12 | 100391035 | 100391035 | Human | | name |
| 28910279 | CV869016 | single nucleotide variant | NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001109039] | uncertain significance | 12 | 100393461 | 100393461 | Human | 1 | name |
| 28911945 | CV869018 | single nucleotide variant | NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001111386]|Inborn genetic diseases [RCV005278735]|not provided [RCV001772327] | uncertain significance | 12 | 100402342 | 100402342 | Human | 2 | name |
| 150534727 | CV1300704 | single nucleotide variant | NM_139319.3(SLC17A8):c.1493A>G (p.Tyr498Cys) | not provided [RCV001758832] | uncertain significance | 12 | 100419882 | 100419882 | Human | | name |
| 150556463 | CV1303147 | single nucleotide variant | NM_139319.3(SLC17A8):c.1213C>G (p.Leu405Val) | not provided [RCV001774340] | uncertain significance | 12 | 100412796 | 100412796 | Human | | name |
| 150535364 | CV1311863 | single nucleotide variant | NM_139319.3(SLC17A8):c.1157C>T (p.Thr386Ile) | not provided [RCV001779673] | uncertain significance | 12 | 100404141 | 100404141 | Human | | name |
| 151712209 | CV1374519 | single nucleotide variant | NM_139319.3(SLC17A8):c.1615T>G (p.Phe539Val) | not provided [RCV001908244] | uncertain significance | 12 | 100420004 | 100420004 | Human | | name |
| 151745862 | CV1428221 | single nucleotide variant | NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) | Autosomal dominant nonsyndromic hearing loss 25 [RCV003136322]|not provided [RCV001926955] | uncertain significance | 12 | 100418052 | 100418052 | Human | 1 | name |
| 151798856 | CV1430563 | single nucleotide variant | NM_139319.3(SLC17A8):c.1097T>C (p.Val366Ala) | not provided [RCV001877188] | uncertain significance | 12 | 100404081 | 100404081 | Human | | name |
| 151821973 | CV1453692 | single nucleotide variant | NM_139319.3(SLC17A8):c.1264C>T (p.Leu422Phe) | Inborn genetic diseases [RCV004953240]|not provided [RCV001879298] | uncertain significance | 12 | 100412847 | 100412847 | Human | 1 | name |
| 151762707 | CV1503085 | single nucleotide variant | NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) | Autosomal dominant nonsyndromic hearing loss 25 [RCV002479430]|not provided [RCV001914176] | uncertain significance | 12 | 100418061 | 100418061 | Human | 1 | name |
| 152077927 | CV1601983 | single nucleotide variant | NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys) | SLC17A8-related disorder [RCV003971110]|not provided [RCV002148934]|not specified [RCV005239296] | likely benign|uncertain significance | 12 | 100419926 | 100419926 | Human | 1 | name , trait , alternate_id |
| 155264855 | CV1704404 | single nucleotide variant | NM_139319.3(SLC17A8):c.1262T>C (p.Val421Ala) | not provided [RCV002284620] | uncertain significance | 12 | 100412845 | 100412845 | Human | | name |
| 9690907 | CV175530 | single nucleotide variant | NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113389]|Inborn genetic diseases [RCV002515030]|not provided [RCV000767164]|not specified [RCV000156602] | conflicting interpretations of pathogenicity|uncertain significance | 12 | 100418127 | 100418127 | Human | 2 | name |
| 156020452 | CV1909473 | single nucleotide variant | NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro) | SLC17A8-related disorder [RCV003953917]|not provided [RCV002619367] | uncertain significance | 12 | 100412794 | 100412794 | Human | 1 | name , trait , alternate_id |
| 156015798 | CV2010195 | single nucleotide variant | NM_139319.3(SLC17A8):c.1220T>C (p.Val407Ala) | not provided [RCV002735134] | uncertain significance | 12 | 100412803 | 100412803 | Human | | name |
| 156342886 | CV2123935 | single nucleotide variant | NM_139319.3(SLC17A8):c.1229C>T (p.Ser410Leu) | Inborn genetic diseases [RCV002942576]|not provided [RCV002938994] | likely benign|uncertain significance | 12 | 100412812 | 100412812 | Human | 1 | name |
| 155942792 | CV2225877 | single nucleotide variant | NM_139319.3(SLC17A8):c.1666G>A (p.Glu556Lys) | Inborn genetic diseases [RCV002752150] | uncertain significance | 12 | 100420055 | 100420055 | Human | 1 | name |
| 155980168 | CV2243920 | single nucleotide variant | NM_139319.3(SLC17A8):c.1385T>C (p.Met462Thr) | Inborn genetic diseases [RCV002777637] | uncertain significance | 12 | 100418116 | 100418116 | Human | 1 | name |
| 12907383 | CV227348 | single nucleotide variant | NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000490397]|SLC17A8-related disorder [RCV003955246]|not provided [RCV001711988] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 100404104 | 100404104 | Human | 1 | name , trait , alternate_id |
| 156074858 | CV2281475 | single nucleotide variant | NM_139319.3(SLC17A8):c.1304A>G (p.Asn435Ser) | Inborn genetic diseases [RCV002868915] | uncertain significance | 12 | 100418035 | 100418035 | Human | 1 | name |
| 156038272 | CV2390167 | single nucleotide variant | NM_139319.3(SLC17A8):c.1429C>T (p.Arg477Cys) | Inborn genetic diseases [RCV002758568]|not provided [RCV005099170] | uncertain significance | 12 | 100419818 | 100419818 | Human | 1 | name |
| 329350337 | CV2421640 | single nucleotide variant | NM_139319.3(SLC17A8):c.1736A>T (p.Gln579Leu) | not provided [RCV003159342] | uncertain significance | 12 | 100420125 | 100420125 | Human | | name |
| 329365780 | CV2441127 | single nucleotide variant | NM_139319.3(SLC17A8):c.1744G>A (p.Glu582Lys) | Inborn genetic diseases [RCV003207410] | uncertain significance | 12 | 100420133 | 100420133 | Human | 1 | name |
| 329352771 | CV2470450 | single nucleotide variant | NM_139319.3(SLC17A8):c.1327C>G (p.Pro443Ala) | Inborn genetic diseases [RCV003200750] | uncertain significance | 12 | 100418058 | 100418058 | Human | 1 | name |
| 329953732 | CV2668550 | single nucleotide variant | NM_139319.3(SLC17A8):c.1178A>G (p.Asn393Ser) | not provided [RCV003230203] | uncertain significance | 12 | 100404162 | 100404162 | Human | | name |
| 401758758 | CV2694263 | single nucleotide variant | NM_139319.3(SLC17A8):c.1486A>T (p.Ile496Phe) | Inborn genetic diseases [RCV003279895] | uncertain significance | 12 | 100419875 | 100419875 | Human | 1 | name |
| 11643626 | CV270599 | single nucleotide variant | NM_139319.3(SLC17A8):c.1690G>C (p.Gly564Arg) | not provided [RCV000397167] | uncertain significance | 12 | 100420079 | 100420079 | Human | | name |
| 401907197 | CV2804852 | single nucleotide variant | NM_139319.3(SLC17A8):c.1151C>T (p.Thr384Ile) | SLC17A8-related disorder [RCV003422479] | uncertain significance | 12 | 100404135 | 100404135 | Human | | name , trait , alternate_id |
| 401929579 | CV2816772 | single nucleotide variant | NM_139319.3(SLC17A8):c.1565T>G (p.Ile522Ser) | not provided [RCV003390283] | uncertain significance | 12 | 100419954 | 100419954 | Human | | name |
| 405110133 | CV2898921 | single nucleotide variant | NM_139319.3(SLC17A8):c.1400T>C (p.Ile467Thr) | not provided [RCV003557759] | uncertain significance | 12 | 100418131 | 100418131 | Human | | name |
| 405181260 | CV3147545 | single nucleotide variant | NM_139319.3(SLC17A8):c.1640C>G (p.Ser547Cys) | not provided [RCV003842447] | uncertain significance | 12 | 100420029 | 100420029 | Human | | name |
| 11662930 | CV315678 | single nucleotide variant | NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000390800] | uncertain significance | 12 | 100412836 | 100412836 | Human | 1 | name |
| 405214557 | CV3164414 | single nucleotide variant | NM_139319.3(SLC17A8):c.1652C>T (p.Thr551Ile) | not provided [RCV003862649] | uncertain significance | 12 | 100420041 | 100420041 | Human | | name |
| 11615376 | CV329938 | single nucleotide variant | NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000285016]|Inborn genetic diseases [RCV002520778] | uncertain significance | 12 | 100402707 | 100402707 | Human | 2 | name |
| 11620700 | CV329939 | single nucleotide variant | NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) | Autosomal dominant nonsyndromic hearing loss 25 [RCV000339831]|Inborn genetic diseases [RCV004021529] | uncertain significance | 12 | 100402708 | 100402708 | Human | 2 | name |
| 405711820 | CV3328984 | single nucleotide variant | NM_139319.3(SLC17A8):c.1363G>A (p.Gly455Arg) | Inborn genetic diseases [RCV004448588] | uncertain significance | 12 | 100418094 | 100418094 | Human | 1 | name |
| 405711833 | CV3328986 | single nucleotide variant | NM_139319.3(SLC17A8):c.1600C>T (p.Leu534Phe) | Inborn genetic diseases [RCV004448590] | uncertain significance | 12 | 100419989 | 100419989 | Human | 1 | name |
| 407425406 | CV3411236 | single nucleotide variant | NM_139319.3(SLC17A8):c.1405G>A (p.Gly469Ser) | not provided [RCV004588927] | uncertain significance | 12 | 100418136 | 100418136 | Human | | name |
| 407426753 | CV3411553 | single nucleotide variant | NM_139319.3(SLC17A8):c.1057G>A (p.Gly353Ser) | not provided [RCV004590731] | uncertain significance | 12 | 100404041 | 100404041 | Human | | name |
| 407428205 | CV3412380 | single nucleotide variant | NM_139319.3(SLC17A8):c.1504G>C (p.Ala502Pro) | not provided [RCV004593548] | uncertain significance | 12 | 100419893 | 100419893 | Human | | name |
| 407519524 | CV3477264 | single nucleotide variant | NM_139319.3(SLC17A8):c.1198G>C (p.Glu400Gln) | Inborn genetic diseases [RCV004676549] | uncertain significance | 12 | 100412781 | 100412781 | Human | 1 | name |
| 407519525 | CV3477265 | single nucleotide variant | NM_139319.3(SLC17A8):c.1363G>C (p.Gly455Arg) | Inborn genetic diseases [RCV004676550] | uncertain significance | 12 | 100418094 | 100418094 | Human | 1 | name |
| 408383330 | CV3503815 | single nucleotide variant | NM_139319.3(SLC17A8):c.1339A>G (p.Ser447Gly) | SLC17A8-related disorder [RCV004730572] | uncertain significance | 12 | 100418070 | 100418070 | Human | | name , trait , alternate_id |
| 408366684 | CV3514620 | single nucleotide variant | NM_139319.3(SLC17A8):c.1345C>G (p.Leu449Val) | SLC17A8-related disorder [RCV004756933] | uncertain significance | 12 | 100418076 | 100418076 | Human | | name , trait , alternate_id |
| 408391039 | CV3521167 | single nucleotide variant | NM_139319.3(SLC17A8):c.1581A>C (p.Glu527Asp) | not provided [RCV004762989] | uncertain significance | 12 | 100419970 | 100419970 | Human | | name |
| 408392592 | CV3528187 | single nucleotide variant | NM_139319.3(SLC17A8):c.1730C>T (p.Ser577Phe) | not provided [RCV004775955] | uncertain significance | 12 | 100420119 | 100420119 | Human | | name |
| 597892024 | CV3763083 | single nucleotide variant | NM_139319.3(SLC17A8):c.1756T>C (p.Ser586Pro) | not provided [RCV005110856] | uncertain significance | 12 | 100420145 | 100420145 | Human | | name |
| 597892325 | CV3822887 | single nucleotide variant | NM_139319.3(SLC17A8):c.1007G>A (p.Ser336Asn) | not provided [RCV005179963] | uncertain significance | 12 | 100402699 | 100402699 | Human | | name |
| 598215182 | CV3890801 | single nucleotide variant | NM_139319.3(SLC17A8):c.1746G>C (p.Glu582Asp) | not provided [RCV005251654] | uncertain significance | 12 | 100420135 | 100420135 | Human | | name |
| 598268863 | CV3921714 | single nucleotide variant | NM_139319.3(SLC17A8):c.1502T>C (p.Phe501Ser) | Inborn genetic diseases [RCV005281847] | uncertain significance | 12 | 100419891 | 100419891 | Human | 1 | name |
| 598268870 | CV3921716 | single nucleotide variant | NM_139319.3(SLC17A8):c.1663T>A (p.Cys555Ser) | Inborn genetic diseases [RCV005281849] | uncertain significance | 12 | 100420052 | 100420052 | Human | 1 | name |
| 616939952 | CV4014327 | single nucleotide variant | NM_139319.3(SLC17A8):c.1216G>C (p.Val406Leu) | not provided [RCV005413821] | uncertain significance | 12 | 100412799 | 100412799 | Human | | name |
| 13835132 | CV586388 | single nucleotide variant | NM_139319.3(SLC17A8):c.1559G>T (p.Cys520Phe) | not provided [RCV000730845] | uncertain significance | 12 | 100419948 | 100419948 | Human | | name |
| 28870061 | CV869019 | single nucleotide variant | NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113387]|Inborn genetic diseases [RCV003283981] | uncertain significance | 12 | 100404090 | 100404090 | Human | 2 | name |
| 28870064 | CV869020 | single nucleotide variant | NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001113388] | uncertain significance | 12 | 100418062 | 100418062 | Human | 1 | name |
| 28872968 | CV869021 | single nucleotide variant | NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114779]|Inborn genetic diseases [RCV003283983] | uncertain significance | 12 | 100419819 | 100419819 | Human | 2 | name |
| 28872971 | CV869022 | single nucleotide variant | NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114780] | uncertain significance | 12 | 100419834 | 100419834 | Human | 1 | name |
| 28872972 | CV869023 | single nucleotide variant | NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114781] | uncertain significance | 12 | 100420008 | 100420008 | Human | 1 | name |
| 28872974 | CV869024 | single nucleotide variant | NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) | Autosomal dominant nonsyndromic hearing loss 25 [RCV001114782]|not provided [RCV001729796] | uncertain significance | 12 | 100420034 | 100420034 | Human | 1 | name |
| 11652457 | CV328754 | microsatellite | NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) | Nonsyndromic Hearing Loss, Dominant [RCV000304875]|SLC17A8-related disorder [RCV003957590]|not provided [RCV001570770] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 12 | 100420019 | 100420021 | Human | | name , trait , alternate_id |
| 151820121 | CV1378328 | deletion | NM_139319.3(SLC17A8):c.1242_1243del (p.Val415fs) | not provided [RCV002029810] | uncertain significance | 12 | 100412823 | 100412824 | Human | | name |
| 597918416 | CV3737832 | deletion | NM_139319.3(SLC17A8):c.1121_1184del (p.Ala374fs) | not provided [RCV005074431] | uncertain significance | 12 | 100404102 | 100404165 | Human | | name |
| 13516538 | CV491206 | indel | NM_139319.3(SLC17A8):c.1015_1016delinsAA (p.Ala339Asn) | not provided [RCV000595650] | uncertain significance | 12 | 100402707 | 100402708 | Human | | name |
