NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114670]|not provided [RCV000522096] |
Chr12:100380769 [GRCh38] Chr12:100774547 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000003256]|not provided [RCV000724921] |
Chr12:100396373 [GRCh38] Chr12:100790151 [GRCh37] Chr12:12q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000305950]|SLC17A8-related disorder [RCV003964889]|not provided [RCV002054804]|not specified [RCV000041152] |
Chr12:100380770 [GRCh38] Chr12:100774548 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000309472]|not provided [RCV000893657]|not specified [RCV000041153] |
Chr12:100380935 [GRCh38] Chr12:100774713 [GRCh37] Chr12:12q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000336046]|not provided [RCV000973500]|not specified [RCV000041154] |
Chr12:100357445 [GRCh38] Chr12:100751223 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000333169]|not provided [RCV000960479]|not specified [RCV000041155] |
Chr12:100401811 [GRCh38] Chr12:100795589 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.2(SLC17A8):c.1356C>T (p.Ile452=) |
single nucleotide variant |
Malignant melanoma [RCV000070270] |
Chr12:100418087 [GRCh38] Chr12:100811865 [GRCh37] Chr12:99335996 [NCBI36] Chr12:12q23.1 |
not provided |
NM_139319.3(SLC17A8):c.139G>C (p.Glu47Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003258915]|not provided [RCV000658007] |
Chr12:100380738 [GRCh38] Chr12:100774516 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.2(SLC17A8):c.101+10967A>G |
single nucleotide variant |
Lung cancer [RCV000110524] |
Chr12:100368459 [GRCh38] Chr12:100762237 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111387]|not provided [RCV001697171]|not specified [RCV000180002] |
Chr12:100402434 [GRCh38] Chr12:100796212 [GRCh37] Chr12:12q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 |
copy number gain |
See cases [RCV000137891] |
Chr12:97394550..101410225 [GRCh38] Chr12:97788328..101804003 [GRCh37] Chr12:96312459..100328134 [NCBI36] Chr12:12q23.1-23.2 |
likely pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 |
copy number gain |
See cases [RCV000142447] |
Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11 |
pathogenic |
NM_139319.3(SLC17A8):c.354+4G>C |
single nucleotide variant |
not specified [RCV000156192] |
Chr12:100380957 [GRCh38] Chr12:100774735 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1298-14dup |
duplication |
not provided [RCV003764965]|not specified [RCV000156194] |
Chr12:100418011..100418012 [GRCh38] Chr12:100811789..100811790 [GRCh37] Chr12:12q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113389]|Inborn genetic diseases [RCV002515030]|not provided [RCV000767164]|not specified [RCV000156602] |
Chr12:100418127 [GRCh38] Chr12:100811905 [GRCh37] Chr12:12q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004019825]|not provided [RCV000839952]|not specified [RCV000151878] |
Chr12:100380909 [GRCh38] Chr12:100774687 [GRCh37] Chr12:12q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) |
single nucleotide variant |
not provided [RCV000993012]|not specified [RCV000151881] |
Chr12:100402430 [GRCh38] Chr12:100796208 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) |
single nucleotide variant |
not provided [RCV004772847]|not specified [RCV000155276] |
Chr12:100401805 [GRCh38] Chr12:100795583 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000297494]|SLC17A8-related disorder [RCV003952783]|not provided [RCV000948401]|not specified [RCV000155387] |
Chr12:100357414 [GRCh38] Chr12:100751192 [GRCh37] Chr12:12q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_139319.3(SLC17A8):c.355-4C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000269634]|not provided [RCV000965248]|not specified [RCV000151879] |
Chr12:100390997 [GRCh38] Chr12:100784775 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) |
single nucleotide variant |
not specified [RCV000151880] |
Chr12:100393442 [GRCh38] Chr12:100787220 [GRCh37] Chr12:12q23.1 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113390]|not provided [RCV002517506]|not specified [RCV000217844] |
Chr12:100418135 [GRCh38] Chr12:100811913 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.354+16T>C |
single nucleotide variant |
not provided [RCV001582889]|not specified [RCV000247233] |
Chr12:100380969 [GRCh38] Chr12:100774747 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.*1521dup |
duplication |
Nonsyndromic Hearing Loss, Dominant [RCV000344089]|not provided [RCV004693076] |
Chr12:100421658..100421659 [GRCh38] Chr12:100815436..100815437 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*39A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000345750]|not provided [RCV001672463] |
Chr12:100420198 [GRCh38] Chr12:100813976 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.*1506_*1507insG |
insertion |
Nonsyndromic Hearing Loss, Dominant [RCV000369496] |
Chr12:100421665..100421666 [GRCh38] Chr12:100815443..100815444 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.*71T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000395766]|not provided [RCV001538779] |
Chr12:100420230 [GRCh38] Chr12:100814008 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.-32T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000396555] |
Chr12:100357360 [GRCh38] Chr12:100751138 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000265974]|Inborn genetic diseases [RCV002522216] |
Chr12:100380820 [GRCh38] Chr12:100774598 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*507G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000371080] |
Chr12:100420666 [GRCh38] Chr12:100814444 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000285016]|Inborn genetic diseases [RCV002520778] |
Chr12:100402707 [GRCh38] Chr12:100796485 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1520_*1521dup |
duplication |
Nonsyndromic Hearing Loss, Dominant [RCV000349941] |
Chr12:100421658..100421659 [GRCh38] Chr12:100815436..100815437 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000273450]|not provided [RCV003718169] |
Chr12:100396399 [GRCh38] Chr12:100790177 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.*1513_*1521del |
deletion |
Nonsyndromic Hearing Loss, Dominant [RCV000290335]|not provided [RCV004693077] |
Chr12:100421659..100421667 [GRCh38] Chr12:100815437..100815445 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*178G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000310413] |
Chr12:100420337 [GRCh38] Chr12:100814115 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*534T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000276542] |
Chr12:100420693 [GRCh38] Chr12:100814471 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.-218T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000293734]|not provided [RCV001672462] |
Chr12:100357174 [GRCh38] Chr12:100750952 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.-88A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000337331] |
Chr12:100357304 [GRCh38] Chr12:100751082 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000338898] |
Chr12:100402605 [GRCh38] Chr12:100796383 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000387621]|SLC17A8-related disorder [RCV003957589]|not provided [RCV000886186] |
Chr12:100401823 [GRCh38] Chr12:100795601 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000279136] |
Chr12:100401862 [GRCh38] Chr12:100795640 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1486A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000282829] |
Chr12:100421645 [GRCh38] Chr12:100815423 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*817A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000371762] |
Chr12:100420976 [GRCh38] Chr12:100814754 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000327044] |
Chr12:100393425 [GRCh38] Chr12:100787203 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000398240]|not provided [RCV001799651] |
Chr12:100380717 [GRCh38] Chr12:100774495 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1140T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000263100] |
Chr12:100421299 [GRCh38] Chr12:100815077 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*335C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000275154] |
Chr12:100420494 [GRCh38] Chr12:100814272 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.584T>C (p.Val195Ala) |
single nucleotide variant |
not provided [RCV000393723] |
Chr12:100393479 [GRCh38] Chr12:100787257 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000358240]|not provided [RCV002056253] |
Chr12:100380809 [GRCh38] Chr12:100774587 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.1690G>C (p.Gly564Arg) |
single nucleotide variant |
not provided [RCV000397167] |
Chr12:100420079 [GRCh38] Chr12:100813857 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000339831]|Inborn genetic diseases [RCV004021529] |
Chr12:100402708 [GRCh38] Chr12:100796486 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000388650]|Inborn genetic diseases [RCV004965392]|not provided [RCV000734057]|not specified [RCV003235185] |
Chr12:100396379 [GRCh38] Chr12:100790157 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1295T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000318288] |
Chr12:100421454 [GRCh38] Chr12:100815232 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.1736A>T (p.Gln579Leu) |
single nucleotide variant |
not provided [RCV003159342] |
Chr12:100420125 [GRCh38] Chr12:100813903 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.532G>A (p.Ala178Thr) |
single nucleotide variant |
not provided [RCV001548328] |
Chr12:100393427 [GRCh38] Chr12:100787205 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000490397]|SLC17A8-related disorder [RCV003955246]|not provided [RCV001711988] |
Chr12:100404104 [GRCh38] Chr12:100797882 [GRCh37] Chr12:12q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_139319.3(SLC17A8):c.*1502T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000314757] |
Chr12:100421661 [GRCh38] Chr12:100815439 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NC_000012.12:g.100422072T>A |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000323944]|not provided [RCV004705505] |
Chr12:100422072 [GRCh38] Chr12:100815850 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) |
microsatellite |
Nonsyndromic Hearing Loss, Dominant [RCV000304875]|SLC17A8-related disorder [RCV003957590]|not provided [RCV001570770] |
Chr12:100420019..100420021 [GRCh38] Chr12:100813797..100813799 [GRCh37] Chr12:12q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_139319.3(SLC17A8):c.*715A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000317565] |
Chr12:100420874 [GRCh38] Chr12:100814652 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*244G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000365060] |
Chr12:100420403 [GRCh38] Chr12:100814181 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.354+7A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000366431] |
Chr12:100380960 [GRCh38] Chr12:100774738 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000390800] |
Chr12:100412836 [GRCh38] Chr12:100806614 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1496_*1497insT |
insertion |
Nonsyndromic Hearing Loss, Dominant [RCV000323840] |
Chr12:100421655..100421656 [GRCh38] Chr12:100815433..100815434 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000374723] |
Chr12:100402650 [GRCh38] Chr12:100796428 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1498_*1499insTT |
insertion |
Nonsyndromic Hearing Loss, Dominant [RCV000288640] |
Chr12:100421656..100421657 [GRCh38] Chr12:100815434..100815435 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*357A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000311699] |
Chr12:100420516 [GRCh38] Chr12:100814294 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1716C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000301086] |
Chr12:100421875 [GRCh38] Chr12:100815653 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1306C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000377612] |
Chr12:100421465 [GRCh38] Chr12:100815243 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1498dup |
duplication |
Nonsyndromic Hearing Loss, Dominant [RCV000378397] |
Chr12:100421656..100421657 [GRCh38] Chr12:100815434..100815435 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1587A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000396375] |
Chr12:100421746 [GRCh38] Chr12:100815524 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1501_*1502insGT |
insertion |
Nonsyndromic Hearing Loss, Dominant [RCV000396379] |
Chr12:100421659..100421660 [GRCh38] Chr12:100815437..100815438 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.552C>T (p.Cys184=) |
single nucleotide variant |
not provided [RCV000592802] |
Chr12:100393447 [GRCh38] Chr12:100787225 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.354+230A>T |
single nucleotide variant |
not provided [RCV001545207] |
Chr12:100381183 [GRCh38] Chr12:100774961 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1559G>T (p.Cys520Phe) |
single nucleotide variant |
not provided [RCV000730845] |
Chr12:100419948 [GRCh38] Chr12:100813726 [GRCh37] Chr12:12q23.1 |
uncertain significance |
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 |
copy number gain |
See cases [RCV000445929] |
Chr12:100580198..105804075 [GRCh37] Chr12:12q23.1-23.3 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3 |
copy number gain |
See cases [RCV000510816] |
Chr12:100667424..101651880 [GRCh37] Chr12:12q23.1-23.2 |
uncertain significance |
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) |
single nucleotide variant |
not provided [RCV000594299] |
Chr12:100419967 [GRCh38] Chr12:100813745 [GRCh37] Chr12:12q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_139319.3(SLC17A8):c.1015_1016delinsAA (p.Ala339Asn) |
indel |
not provided [RCV000595650] |
Chr12:100402707..100402708 [GRCh38] Chr12:100796485..100796486 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV002498939]|not provided [RCV001698116] |
Chr12:100380831 [GRCh38] Chr12:100774609 [GRCh37] Chr12:12q23.1 |
likely benign |
GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3 |
copy number gain |
not provided [RCV000683458] |
Chr12:99725136..100857873 [GRCh37] Chr12:12q23.1 |
uncertain significance |
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3 |
copy number gain |
not provided [RCV000683473] |
Chr12:96719383..101537641 [GRCh37] Chr12:12q23.1 |
likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 |
copy number gain |
not provided [RCV000750524] |
Chr12:94881995..103635998 [GRCh37] Chr12:12q22-23.2 |
pathogenic |
NM_139319.3(SLC17A8):c.1187-159del |
deletion |
not provided [RCV001679117] |
Chr12:100412593 [GRCh38] Chr12:100806371 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1187-127dup |
duplication |
not provided [RCV001708322] |
Chr12:100412633..100412634 [GRCh38] Chr12:100806411..100806412 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114780] |
Chr12:100419834 [GRCh38] Chr12:100813612 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114782]|not provided [RCV001729796] |
Chr12:100420034 [GRCh38] Chr12:100813812 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.589-22C>T |
single nucleotide variant |
not provided [RCV001665277] |
Chr12:100396308 [GRCh38] Chr12:100790086 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1128T>C (p.Tyr376=) |
single nucleotide variant |
not provided [RCV000924622] |
Chr12:100404112 [GRCh38] Chr12:100797890 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.903+1G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV000779086] |
Chr12:100402480 [GRCh38] Chr12:100796258 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1299T>A (p.Gly433=) |
single nucleotide variant |
not provided [RCV000973501] |
Chr12:100418030 [GRCh38] Chr12:100811808 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1362C>T (p.Asn454=) |
single nucleotide variant |
not provided [RCV000841839] |
Chr12:100418093 [GRCh38] Chr12:100811871 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.764-49C>T |
single nucleotide variant |
not provided [RCV000844337] |
Chr12:100402291 [GRCh38] Chr12:100796069 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114667]|Inborn genetic diseases [RCV004960466]|not provided [RCV001759880] |
Chr12:100380708 [GRCh38] Chr12:100774486 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1839A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114896] |
Chr12:100421998 [GRCh38] Chr12:100815776 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.389G>A (p.Gly130Asp) |
single nucleotide variant |
not provided [RCV000919032] |
Chr12:100391035 [GRCh38] Chr12:100784813 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1054-46C>G |
single nucleotide variant |
not provided [RCV000844338] |
Chr12:100403992 [GRCh38] Chr12:100797770 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.398A>G (p.His133Arg) |
single nucleotide variant |
not provided [RCV003315052] |
Chr12:100391044 [GRCh38] Chr12:100784822 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1883T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114897] |
Chr12:100422042 [GRCh38] Chr12:100815820 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.27_30del (p.Phe9fs) |
deletion |
not provided [RCV001008941] |
Chr12:100357418..100357421 [GRCh38] Chr12:100751196..100751199 [GRCh37] Chr12:12q23.1 |
likely pathogenic |
GRCh37/hg19 12q23.1(chr12:100815231-100990942)x1 |
copy number loss |
not provided [RCV001006524] |
Chr12:100815231..100990942 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1223T>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113484] |
Chr12:100421382 [GRCh38] Chr12:100815160 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114668] |
Chr12:100380709 [GRCh38] Chr12:100774487 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114669] |
Chr12:100380723 [GRCh38] Chr12:100774501 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111386]|Inborn genetic diseases [RCV005278735]|not provided [RCV001772327] |
Chr12:100402342 [GRCh38] Chr12:100796120 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*542G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111492] |
Chr12:100420701 [GRCh38] Chr12:100814479 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1077A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111494] |
Chr12:100421236 [GRCh38] Chr12:100815014 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001109039] |
Chr12:100393461 [GRCh38] Chr12:100787239 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001109040]|not provided [RCV002556131] |
Chr12:100401787 [GRCh38] Chr12:100795565 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.*473T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001109148] |
Chr12:100420632 [GRCh38] Chr12:100814410 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.*480C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001109149] |
Chr12:100420639 [GRCh38] Chr12:100814417 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=) |
single nucleotide variant |
SLC17A8-related disorder [RCV003973756]|not provided [RCV003106508] |
Chr12:100404079 [GRCh38] Chr12:100797857 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.889G>A (p.Val297Met) |
single nucleotide variant |
not provided [RCV004776771] |
Chr12:100402465 [GRCh38] Chr12:100796243 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1187-10C>T |
single nucleotide variant |
SLC17A8-related disorder [RCV003910869]|not provided [RCV001549882] |
Chr12:100412760 [GRCh38] Chr12:100806538 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.473+34A>G |
single nucleotide variant |
not provided [RCV001564303] |
Chr12:100391153 [GRCh38] Chr12:100784931 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.588+192T>C |
single nucleotide variant |
not provided [RCV001550527] |
Chr12:100393675 [GRCh38] Chr12:100787453 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1426-269dup |
duplication |
not provided [RCV001545329] |
Chr12:100419532..100419533 [GRCh38] Chr12:100813310..100813311 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.474-197C>T |
single nucleotide variant |
not provided [RCV001695244] |
Chr12:100393172 [GRCh38] Chr12:100786950 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.589-256T>C |
single nucleotide variant |
not provided [RCV001720883] |
Chr12:100396074 [GRCh38] Chr12:100789852 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1426-106A>G |
single nucleotide variant |
not provided [RCV001716891] |
Chr12:100419709 [GRCh38] Chr12:100813487 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1426-325G>A |
single nucleotide variant |
not provided [RCV001583567] |
Chr12:100419490 [GRCh38] Chr12:100813268 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.17T>C (p.Phe6Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004968225]|not provided [RCV001588586] |
Chr12:100357408 [GRCh38] Chr12:100751186 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.676+183del |
deletion |
not provided [RCV001588653] |
Chr12:100396584 [GRCh38] Chr12:100790362 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.*6G>C |
single nucleotide variant |
SLC17A8-related disorder [RCV003910882]|not provided [RCV001560874] |
Chr12:100420165 [GRCh38] Chr12:100813943 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.589-173G>A |
single nucleotide variant |
not provided [RCV001557281] |
Chr12:100396157 [GRCh38] Chr12:100789935 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.237T>C (p.Ala79=) |
single nucleotide variant |
not provided [RCV001577661] |
Chr12:100380836 [GRCh38] Chr12:100774614 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1298-42T>G |
single nucleotide variant |
not provided [RCV001557675] |
Chr12:100417987 [GRCh38] Chr12:100811765 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1689del (p.Gly564fs) |
deletion |
not provided [RCV001557781] |
Chr12:100420076 [GRCh38] Chr12:100813854 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.473+329G>A |
single nucleotide variant |
not provided [RCV001587664] |
Chr12:100391448 [GRCh38] Chr12:100785226 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1298-58A>C |
single nucleotide variant |
not provided [RCV001617498] |
Chr12:100417971 [GRCh38] Chr12:100811749 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.677-244A>G |
single nucleotide variant |
not provided [RCV001618893] |
Chr12:100401533 [GRCh38] Chr12:100795311 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.102-24C>A |
single nucleotide variant |
not provided [RCV001678008] |
Chr12:100380677 [GRCh38] Chr12:100774455 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1426-100C>T |
single nucleotide variant |
not provided [RCV001588085] |
Chr12:100419715 [GRCh38] Chr12:100813493 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.142C>T (p.Leu48=) |
single nucleotide variant |
not provided [RCV000906494] |
Chr12:100380741 [GRCh38] Chr12:100774519 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.*209T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114783] |
Chr12:100420368 [GRCh38] Chr12:100814146 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.676+183dup |
duplication |
not provided [RCV001530737] |
Chr12:100396583..100396584 [GRCh38] Chr12:100790361..100790362 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.356C>G (p.Thr119Arg) |
single nucleotide variant |
not provided [RCV002469876] |
Chr12:100391002 [GRCh38] Chr12:100784780 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys) |
single nucleotide variant |
Auditory neuropathy spectrum disorder [RCV003984870]|not provided [RCV003234257] |
Chr12:100380822 [GRCh38] Chr12:100774600 [GRCh37] Chr12:12q23.1 |
pathogenic|uncertain significance |
NM_139319.3(SLC17A8):c.1178A>G (p.Asn393Ser) |
single nucleotide variant |
not provided [RCV003230203] |
Chr12:100404162 [GRCh38] Chr12:100797940 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1426-269del |
deletion |
not provided [RCV001556461] |
Chr12:100419533 [GRCh38] Chr12:100813311 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1187-258G>A |
single nucleotide variant |
not provided [RCV001536426] |
Chr12:100412512 [GRCh38] Chr12:100806290 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.589-278G>C |
single nucleotide variant |
not provided [RCV001589535] |
Chr12:100396052 [GRCh38] Chr12:100789830 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1425+23T>C |
single nucleotide variant |
not provided [RCV001616103] |
Chr12:100418179 [GRCh38] Chr12:100811957 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.677-281C>T |
single nucleotide variant |
not provided [RCV001720888] |
Chr12:100401496 [GRCh38] Chr12:100795274 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1054-331A>G |
single nucleotide variant |
not provided [RCV001596000] |
Chr12:100403707 [GRCh38] Chr12:100797485 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.354+173C>G |
single nucleotide variant |
not provided [RCV001614935] |
Chr12:100381126 [GRCh38] Chr12:100774904 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.763+58A>G |
single nucleotide variant |
not provided [RCV001649693] |
Chr12:100401921 [GRCh38] Chr12:100795699 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.903+5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111388] |
Chr12:100402484 [GRCh38] Chr12:100796262 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*541G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111491] |
Chr12:100420700 [GRCh38] Chr12:100814478 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*671C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111493] |
Chr12:100420830 [GRCh38] Chr12:100814608 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1090A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111495] |
Chr12:100421249 [GRCh38] Chr12:100815027 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.*540A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001109150] |
Chr12:100420699 [GRCh38] Chr12:100814477 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.-246T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113301]|not provided [RCV004704407] |
Chr12:100357146 [GRCh38] Chr12:100750924 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.-72A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113303] |
Chr12:100357320 [GRCh38] Chr12:100751098 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.*1243A>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113485] |
Chr12:100421402 [GRCh38] Chr12:100815180 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.-311G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111288] |
Chr12:100357081 [GRCh38] Chr12:100750859 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.-295C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001111289] |
Chr12:100357097 [GRCh38] Chr12:100750875 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1187-159dup |
duplication |
not provided [RCV001682535] |
Chr12:100412592..100412593 [GRCh38] Chr12:100806370..100806371 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.763+153A>G |
single nucleotide variant |
not provided [RCV001709817] |
Chr12:100402016 [GRCh38] Chr12:100795794 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1298-80C>T |
single nucleotide variant |
not provided [RCV001710881] |
Chr12:100417949 [GRCh38] Chr12:100811727 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.676+110T>A |
single nucleotide variant |
not provided [RCV001546305] |
Chr12:100396527 [GRCh38] Chr12:100790305 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.474-300G>A |
single nucleotide variant |
not provided [RCV001537240] |
Chr12:100393069 [GRCh38] Chr12:100786847 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.354+177CATCTCAG[4] |
microsatellite |
not provided [RCV001645594] |
Chr12:100381130..100381137 [GRCh38] Chr12:100774908..100774915 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.-93A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113302] |
Chr12:100357299 [GRCh38] Chr12:100751077 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113387]|Inborn genetic diseases [RCV003283981] |
Chr12:100404090 [GRCh38] Chr12:100797868 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001113388] |
Chr12:100418062 [GRCh38] Chr12:100811840 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114779]|Inborn genetic diseases [RCV003283983] |
Chr12:100419819 [GRCh38] Chr12:100813597 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001114781] |
Chr12:100420008 [GRCh38] Chr12:100813786 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.15A>G (p.Ala5=) |
single nucleotide variant |
not provided [RCV001580861] |
Chr12:100357406 [GRCh38] Chr12:100751184 [GRCh37] Chr12:12q23.1 |
benign|likely benign |
NM_139319.3(SLC17A8):c.83C>A (p.Ser28Tyr) |
single nucleotide variant |
not specified [RCV004783475] |
Chr12:100357474 [GRCh38] Chr12:100751252 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.474-52T>C |
single nucleotide variant |
not provided [RCV001536899] |
Chr12:100393317 [GRCh38] Chr12:100787095 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1262T>C (p.Val421Ala) |
single nucleotide variant |
not provided [RCV002284620] |
Chr12:100412845 [GRCh38] Chr12:100806623 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.616dup (p.Met206fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001391305] |
Chr12:100396356..100396357 [GRCh38] Chr12:100790134..100790135 [GRCh37] Chr12:12q23.1 |
pathogenic |
NM_139319.3(SLC17A8):c.588+208T>C |
single nucleotide variant |
not provided [RCV001534292] |
Chr12:100393691 [GRCh38] Chr12:100787469 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.102-310A>G |
single nucleotide variant |
not provided [RCV001610989] |
Chr12:100380391 [GRCh38] Chr12:100774169 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1187-127del |
deletion |
not provided [RCV001581859] |
Chr12:100412634 [GRCh38] Chr12:100806412 [GRCh37] Chr12:12q23.1 |
likely benign |
NC_000012.12:g.100356902C>A |
single nucleotide variant |
not provided [RCV001583462] |
Chr12:100356902 [GRCh38] Chr12:100750680 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.473+2T>C |
single nucleotide variant |
not provided [RCV001540728] |
Chr12:100391121 [GRCh38] Chr12:100784899 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1187-45C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001807421]|not provided [RCV001538544] |
Chr12:100412725 [GRCh38] Chr12:100806503 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.243G>A (p.Met81Ile) |
single nucleotide variant |
not provided [RCV002248267] |
Chr12:100380842 [GRCh38] Chr12:100774620 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.224G>A (p.Arg75His) |
single nucleotide variant |
not provided [RCV001754756] |
Chr12:100380823 [GRCh38] Chr12:100774601 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.200G>A (p.Cys67Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004047404]|not provided [RCV002259445] |
Chr12:100380799 [GRCh38] Chr12:100774577 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.196G>A (p.Asp66Asn) |
single nucleotide variant |
not provided [RCV001760984] |
Chr12:100380795 [GRCh38] Chr12:100774573 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.959T>C (p.Ile320Thr) |
single nucleotide variant |
not provided [RCV001751932] |
Chr12:100402651 [GRCh38] Chr12:100796429 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.842A>G (p.Asn281Ser) |
single nucleotide variant |
not provided [RCV001768840] |
Chr12:100402418 [GRCh38] Chr12:100796196 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1213C>G (p.Leu405Val) |
single nucleotide variant |
not provided [RCV001774340] |
Chr12:100412796 [GRCh38] Chr12:100806574 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV001799521] |
Chr12:100396375 [GRCh38] Chr12:100790153 [GRCh37] Chr12:12q23.1 |
likely pathogenic |
NM_139319.3(SLC17A8):c.547G>C (p.Gly183Arg) |
single nucleotide variant |
not provided [RCV001757275] |
Chr12:100393442 [GRCh38] Chr12:100787220 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1493A>G (p.Tyr498Cys) |
single nucleotide variant |
not provided [RCV001758832] |
Chr12:100419882 [GRCh38] Chr12:100813660 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1157C>T (p.Thr386Ile) |
single nucleotide variant |
not provided [RCV001779673] |
Chr12:100404141 [GRCh38] Chr12:100797919 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.485C>T (p.Ala162Val) |
single nucleotide variant |
not provided [RCV001914952] |
Chr12:100393380 [GRCh38] Chr12:100787158 [GRCh37] Chr12:12q23.1 |
uncertain significance |
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) |
copy number gain |
not specified [RCV002053014] |
Chr12:100580198..105804075 [GRCh37] Chr12:12q23.1-23.3 |
uncertain significance |
NM_139319.3(SLC17A8):c.737G>C (p.Gly246Ala) |
single nucleotide variant |
not provided [RCV001823403] |
Chr12:100401837 [GRCh38] Chr12:100795615 [GRCh37] Chr12:12q23.1 |
uncertain significance |
GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075) |
copy number loss |
not specified [RCV002053013] |
Chr12:100564593..103021075 [GRCh37] Chr12:12q23.1-23.2 |
uncertain significance |
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV002479430]|not provided [RCV001914176] |
Chr12:100418061 [GRCh38] Chr12:100811839 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV003136322]|not provided [RCV001926955] |
Chr12:100418052 [GRCh38] Chr12:100811830 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1615T>G (p.Phe539Val) |
single nucleotide variant |
not provided [RCV001908244] |
Chr12:100420004 [GRCh38] Chr12:100813782 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1297+4dup |
duplication |
not provided [RCV001887182] |
Chr12:100412882..100412883 [GRCh38] Chr12:100806660..100806661 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004045512]|not provided [RCV001992151] |
Chr12:100357420 [GRCh38] Chr12:100751198 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1242_1243del (p.Val415fs) |
deletion |
not provided [RCV002029810] |
Chr12:100412823..100412824 [GRCh38] Chr12:100806601..100806602 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu) |
single nucleotide variant |
not provided [RCV001957682] |
Chr12:100380760 [GRCh38] Chr12:100774538 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1264C>T (p.Leu422Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004953240]|not provided [RCV001879298] |
Chr12:100412847 [GRCh38] Chr12:100806625 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1097T>C (p.Val366Ala) |
single nucleotide variant |
not provided [RCV001877188] |
Chr12:100404081 [GRCh38] Chr12:100797859 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.473+16A>G |
single nucleotide variant |
not provided [RCV002013448] |
Chr12:100391135 [GRCh38] Chr12:100784913 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys) |
single nucleotide variant |
SLC17A8-related disorder [RCV003971110]|not provided [RCV002148934]|not specified [RCV005239296] |
Chr12:100419926 [GRCh38] Chr12:100813704 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.473+13G>A |
single nucleotide variant |
not provided [RCV002146523] |
Chr12:100391132 [GRCh38] Chr12:100784910 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.473+17T>C |
single nucleotide variant |
not provided [RCV002126347] |
Chr12:100391136 [GRCh38] Chr12:100784914 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.102-18A>G |
single nucleotide variant |
not provided [RCV002138131] |
Chr12:100380683 [GRCh38] Chr12:100774461 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1425+11C>A |
single nucleotide variant |
not provided [RCV002143103] |
Chr12:100418167 [GRCh38] Chr12:100811945 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.474-3dup |
duplication |
not provided [RCV002204318] |
Chr12:100393361..100393362 [GRCh38] Chr12:100787139..100787140 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.27C>T (p.Phe9=) |
single nucleotide variant |
not provided [RCV002102370] |
Chr12:100357418 [GRCh38] Chr12:100751196 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.211G>A (p.Gly71Ser) |
single nucleotide variant |
not provided [RCV003123224] |
Chr12:100380810 [GRCh38] Chr12:100774588 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.284A>G (p.Asn95Ser) |
single nucleotide variant |
not provided [RCV004787437] |
Chr12:100380883 [GRCh38] Chr12:100774661 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.664A>T (p.Thr222Ser) |
single nucleotide variant |
not provided [RCV002273684] |
Chr12:100396405 [GRCh38] Chr12:100790183 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.886A>T (p.Asn296Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003282634] |
Chr12:100402462 [GRCh38] Chr12:100796240 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1187-3C>T |
single nucleotide variant |
not provided [RCV002464940] |
Chr12:100412767 [GRCh38] Chr12:100806545 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV004585132] |
Chr12:100357434 [GRCh38] Chr12:100751212 [GRCh37] Chr12:12q23.1 |
pathogenic |
NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile) |
single nucleotide variant |
not provided [RCV002305891] |
Chr12:100391002 [GRCh38] Chr12:100784780 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1666G>A (p.Glu556Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002752150] |
Chr12:100420055 [GRCh38] Chr12:100813833 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.591T>C (p.Gly197=) |
single nucleotide variant |
not provided [RCV003013833] |
Chr12:100396332 [GRCh38] Chr12:100790110 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1298-5T>A |
single nucleotide variant |
not provided [RCV002511741] |
Chr12:100418024 [GRCh38] Chr12:100811802 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.766A>T (p.Met256Leu) |
single nucleotide variant |
not provided [RCV002820116] |
Chr12:100402342 [GRCh38] Chr12:100796120 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.676+3G>A |
single nucleotide variant |
not provided [RCV002617702] |
Chr12:100396420 [GRCh38] Chr12:100790198 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1298-17T>A |
single nucleotide variant |
not provided [RCV002771295] |
Chr12:100418012 [GRCh38] Chr12:100811790 [GRCh37] Chr12:12q23.1 |
benign |
NM_139319.3(SLC17A8):c.1385T>C (p.Met462Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002777637] |
Chr12:100418116 [GRCh38] Chr12:100811894 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.797T>C (p.Leu266Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV004821427] |
Chr12:100402373 [GRCh38] Chr12:100796151 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.635C>G (p.Pro212Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002736955] |
Chr12:100396376 [GRCh38] Chr12:100790154 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1662T>C (p.Asn554=) |
single nucleotide variant |
not provided [RCV002867401] |
Chr12:100420051 [GRCh38] Chr12:100813829 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1429C>T (p.Arg477Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002758568]|not provided [RCV005099170] |
Chr12:100419818 [GRCh38] Chr12:100813596 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro) |
single nucleotide variant |
SLC17A8-related disorder [RCV003953917]|not provided [RCV002619367] |
Chr12:100412794 [GRCh38] Chr12:100806572 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1220T>C (p.Val407Ala) |
single nucleotide variant |
not provided [RCV002735134] |
Chr12:100412803 [GRCh38] Chr12:100806581 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1304A>G (p.Asn435Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002868915] |
Chr12:100418035 [GRCh38] Chr12:100811813 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.81T>G (p.Asp27Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002821236] |
Chr12:100357472 [GRCh38] Chr12:100751250 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.474-14C>A |
single nucleotide variant |
not provided [RCV002790896] |
Chr12:100393355 [GRCh38] Chr12:100787133 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1054-1G>C |
single nucleotide variant |
not provided [RCV002626435] |
Chr12:100404037 [GRCh38] Chr12:100797815 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile) |
single nucleotide variant |
not provided [RCV002623895] |
Chr12:100380930 [GRCh38] Chr12:100774708 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg) |
single nucleotide variant |
not provided [RCV002623716]|not specified [RCV003331440] |
Chr12:100380782 [GRCh38] Chr12:100774560 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.765C>T (p.Gly255=) |
single nucleotide variant |
SLC17A8-related disorder [RCV003916553]|not provided [RCV002893853] |
Chr12:100402341 [GRCh38] Chr12:100796119 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala) |
single nucleotide variant |
not provided [RCV002835114] |
Chr12:100391089 [GRCh38] Chr12:100784867 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.676+9A>G |
single nucleotide variant |
not provided [RCV002835049] |
Chr12:100396426 [GRCh38] Chr12:100790204 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1353G>C (p.Gly451=) |
single nucleotide variant |
not provided [RCV002966371] |
Chr12:100418084 [GRCh38] Chr12:100811862 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1229C>T (p.Ser410Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002942576]|not provided [RCV002938994] |
Chr12:100412812 [GRCh38] Chr12:100806590 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.677-18_677-15del |
deletion |
not provided [RCV002581515] |
Chr12:100401757..100401760 [GRCh38] Chr12:100795535..100795538 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.223C>A (p.Arg75Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002679058] |
Chr12:100380822 [GRCh38] Chr12:100774600 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1426-18C>A |
single nucleotide variant |
not provided [RCV002608372]|not specified [RCV003155484] |
Chr12:100419797 [GRCh38] Chr12:100813575 [GRCh37] Chr12:12q23.1 |
likely benign|uncertain significance |
NM_139319.3(SLC17A8):c.944C>T (p.Pro315Leu) |
single nucleotide variant |
not provided [RCV002606277] |
Chr12:100402636 [GRCh38] Chr12:100796414 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1053+8C>T |
single nucleotide variant |
not provided [RCV002610545] |
Chr12:100402753 [GRCh38] Chr12:100796531 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.188C>G (p.Pro63Arg) |
single nucleotide variant |
not provided [RCV002588158] |
Chr12:100380787 [GRCh38] Chr12:100774565 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.349A>G (p.Ile117Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003280802] |
Chr12:100380948 [GRCh38] Chr12:100774726 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.764-6C>G |
single nucleotide variant |
not provided [RCV004777053] |
Chr12:100402334 [GRCh38] Chr12:100796112 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1486A>T (p.Ile496Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003279895] |
Chr12:100419875 [GRCh38] Chr12:100813653 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1327C>G (p.Pro443Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003200750] |
Chr12:100418058 [GRCh38] Chr12:100811836 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.832A>G (p.Thr278Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003286883] |
Chr12:100402408 [GRCh38] Chr12:100796186 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.320G>A (p.Ser107Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003204062] |
Chr12:100380919 [GRCh38] Chr12:100774697 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1744G>A (p.Glu582Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003207410] |
Chr12:100420133 [GRCh38] Chr12:100813911 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003206061]|not provided [RCV003779725] |
Chr12:100380943 [GRCh38] Chr12:100774721 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.285T>A (p.Asn95Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003372317] |
Chr12:100380884 [GRCh38] Chr12:100774662 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.733A>G (p.Ile245Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003377059] |
Chr12:100401833 [GRCh38] Chr12:100795611 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.573G>T (p.Leu191=) |
single nucleotide variant |
not provided [RCV003390282] |
Chr12:100393468 [GRCh38] Chr12:100787246 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1565T>G (p.Ile522Ser) |
single nucleotide variant |
not provided [RCV003390283] |
Chr12:100419954 [GRCh38] Chr12:100813732 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1151C>T (p.Thr384Ile) |
single nucleotide variant |
SLC17A8-related disorder [RCV003422479] |
Chr12:100404135 [GRCh38] Chr12:100797913 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.504G>A (p.Ser168=) |
single nucleotide variant |
not provided [RCV003391953] |
Chr12:100393399 [GRCh38] Chr12:100787177 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs) |
duplication |
Autosomal dominant nonsyndromic hearing loss 25 [RCV003455818]|not provided [RCV003443710] |
Chr12:100418055..100418056 [GRCh38] Chr12:100811833..100811834 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.743C>T (p.Ser248Phe) |
single nucleotide variant |
not provided [RCV003443942] |
Chr12:100401843 [GRCh38] Chr12:100795621 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1298-4G>A |
single nucleotide variant |
not provided [RCV003739926] |
Chr12:100418025 [GRCh38] Chr12:100811803 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.162G>A (p.Pro54=) |
single nucleotide variant |
not provided [RCV003578555] |
Chr12:100380761 [GRCh38] Chr12:100774539 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.785A>C (p.Tyr262Ser) |
single nucleotide variant |
not provided [RCV003694748] |
Chr12:100402361 [GRCh38] Chr12:100796139 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.945G>A (p.Pro315=) |
single nucleotide variant |
not provided [RCV003545448] |
Chr12:100402637 [GRCh38] Chr12:100796415 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.589-17T>C |
single nucleotide variant |
not provided [RCV003881253] |
Chr12:100396313 [GRCh38] Chr12:100790091 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1400T>C (p.Ile467Thr) |
single nucleotide variant |
not provided [RCV003557759] |
Chr12:100418131 [GRCh38] Chr12:100811909 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.830C>T (p.Pro277Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004968501]|not provided [RCV003839650] |
Chr12:100402406 [GRCh38] Chr12:100796184 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1116A>G (p.Gln372=) |
single nucleotide variant |
not provided [RCV003855070] |
Chr12:100404100 [GRCh38] Chr12:100797878 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.330T>C (p.Tyr110=) |
single nucleotide variant |
not provided [RCV003814294] |
Chr12:100380929 [GRCh38] Chr12:100774707 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.102-5T>C |
single nucleotide variant |
not provided [RCV003815970] |
Chr12:100380696 [GRCh38] Chr12:100774474 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala) |
single nucleotide variant |
not provided [RCV003551343] |
Chr12:100380921 [GRCh38] Chr12:100774699 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.474-5C>A |
single nucleotide variant |
not provided [RCV003864143] |
Chr12:100393364 [GRCh38] Chr12:100787142 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.173C>T (p.Ser58Phe) |
single nucleotide variant |
not provided [RCV003820828] |
Chr12:100380772 [GRCh38] Chr12:100774550 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.903+9A>G |
single nucleotide variant |
not provided [RCV003722392] |
Chr12:100402488 [GRCh38] Chr12:100796266 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.603A>G (p.Pro201=) |
single nucleotide variant |
not provided [RCV003864581] |
Chr12:100396344 [GRCh38] Chr12:100790122 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala) |
single nucleotide variant |
not provided [RCV003676815] |
Chr12:100380786 [GRCh38] Chr12:100774564 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.60A>T (p.Gly20=) |
single nucleotide variant |
not provided [RCV003707265] |
Chr12:100357451 [GRCh38] Chr12:100751229 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1652C>T (p.Thr551Ile) |
single nucleotide variant |
not provided [RCV003862649] |
Chr12:100420041 [GRCh38] Chr12:100813819 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1640C>G (p.Ser547Cys) |
single nucleotide variant |
not provided [RCV003842447] |
Chr12:100420029 [GRCh38] Chr12:100813807 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.676+8T>C |
single nucleotide variant |
not provided [RCV003709681] |
Chr12:100396425 [GRCh38] Chr12:100790203 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.235G>A (p.Ala79Thr) |
single nucleotide variant |
not provided [RCV003550787] |
Chr12:100380834 [GRCh38] Chr12:100774612 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1068A>G (p.Ser356=) |
single nucleotide variant |
SLC17A8-related disorder [RCV003899380] |
Chr12:100404052 [GRCh38] Chr12:100797830 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1707C>A (p.Thr569=) |
single nucleotide variant |
not provided [RCV003887546] |
Chr12:100420096 [GRCh38] Chr12:100813874 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1363G>A (p.Gly455Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004448588] |
Chr12:100418094 [GRCh38] Chr12:100811872 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.262A>G (p.Ile88Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004448591] |
Chr12:100380861 [GRCh38] Chr12:100774639 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1600C>T (p.Leu534Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004448590] |
Chr12:100419989 [GRCh38] Chr12:100813767 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.903+1_903+6del |
deletion |
Autosomal dominant nonsyndromic hearing loss 25 [RCV003991300] |
Chr12:100402475..100402480 [GRCh38] Chr12:100796253..100796258 [GRCh37] Chr12:12q23.1 |
likely pathogenic |
NM_139319.3(SLC17A8):c.1405G>A (p.Gly469Ser) |
single nucleotide variant |
not provided [RCV004588927] |
Chr12:100418136 [GRCh38] Chr12:100811914 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1057G>A (p.Gly353Ser) |
single nucleotide variant |
not provided [RCV004590731] |
Chr12:100404041 [GRCh38] Chr12:100797819 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1363G>C (p.Gly455Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004676550] |
Chr12:100418094 [GRCh38] Chr12:100811872 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1504G>C (p.Ala502Pro) |
single nucleotide variant |
not provided [RCV004593548] |
Chr12:100419893 [GRCh38] Chr12:100813671 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1198G>C (p.Glu400Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004676549] |
Chr12:100412781 [GRCh38] Chr12:100806559 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.500C>T (p.Thr167Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004670186] |
Chr12:100393395 [GRCh38] Chr12:100787173 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.37dup (p.Ile13fs) |
duplication |
not provided [RCV004698092] |
Chr12:100357422..100357423 [GRCh38] Chr12:100751200..100751201 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.238A>C (p.Ile80Leu) |
single nucleotide variant |
SLC17A8-related disorder [RCV004756606] |
Chr12:100380837 [GRCh38] Chr12:100774615 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1339A>G (p.Ser447Gly) |
single nucleotide variant |
SLC17A8-related disorder [RCV004730572] |
Chr12:100418070 [GRCh38] Chr12:100811848 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1581A>C (p.Glu527Asp) |
single nucleotide variant |
not provided [RCV004762989] |
Chr12:100419970 [GRCh38] Chr12:100813748 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1632G>A (p.Lys544=) |
single nucleotide variant |
not provided [RCV004772684] |
Chr12:100420021 [GRCh38] Chr12:100813799 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.676+3G>C |
single nucleotide variant |
not provided [RCV004768141] |
Chr12:100396420 [GRCh38] Chr12:100790198 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1345C>G (p.Leu449Val) |
single nucleotide variant |
SLC17A8-related disorder [RCV004756933] |
Chr12:100418076 [GRCh38] Chr12:100811854 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1730C>T (p.Ser577Phe) |
single nucleotide variant |
not provided [RCV004775955] |
Chr12:100420119 [GRCh38] Chr12:100813897 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.888C>A (p.Asn296Lys) |
single nucleotide variant |
not provided [RCV004774050] |
Chr12:100402464 [GRCh38] Chr12:100796242 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.53A>G (p.Lys18Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004957859] |
Chr12:100357444 [GRCh38] Chr12:100751222 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.62T>C (p.Val21Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004957860] |
Chr12:100357453 [GRCh38] Chr12:100751231 [GRCh37] Chr12:12q23.1 |
uncertain significance |
GRCh37/hg19 12q23.1-23.2(chr12:99848062-103511070)x1 |
copy number loss |
not provided [RCV004819851] |
Chr12:99848062..103511070 [GRCh37] Chr12:12q23.1-23.2 |
uncertain significance |
NM_139319.3(SLC17A8):c.572T>C (p.Leu191Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004957858] |
Chr12:100393467 [GRCh38] Chr12:100787245 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1297+17G>A |
single nucleotide variant |
not provided [RCV005085214] |
Chr12:100412897 [GRCh38] Chr12:100806675 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.588+20C>T |
single nucleotide variant |
not provided [RCV005060724] |
Chr12:100393503 [GRCh38] Chr12:100787281 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.920G>A (p.Trp307Ter) |
single nucleotide variant |
not provided [RCV005171587] |
Chr12:100402612 [GRCh38] Chr12:100796390 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.489C>T (p.Ala163=) |
single nucleotide variant |
not provided [RCV005086335] |
Chr12:100393384 [GRCh38] Chr12:100787162 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.553G>A (p.Val185Ile) |
single nucleotide variant |
not provided [RCV005060912] |
Chr12:100393448 [GRCh38] Chr12:100787226 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.898C>T (p.Leu300=) |
single nucleotide variant |
not provided [RCV005172957] |
Chr12:100402474 [GRCh38] Chr12:100796252 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.914C>T (p.Thr305Ile) |
single nucleotide variant |
not specified [RCV005238334] |
Chr12:100402606 [GRCh38] Chr12:100796384 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.129A>C (p.Glu43Asp) |
single nucleotide variant |
not provided [RCV005202542] |
Chr12:100380728 [GRCh38] Chr12:100774506 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1121_1184del (p.Ala374fs) |
deletion |
not provided [RCV005074431] |
Chr12:100404102..100404165 [GRCh38] Chr12:100797880..100797943 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.355-12T>G |
single nucleotide variant |
not provided [RCV005241771] |
Chr12:100390989 [GRCh38] Chr12:100784767 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.166C>A (p.Gln56Lys) |
single nucleotide variant |
not provided [RCV005082341] |
Chr12:100380765 [GRCh38] Chr12:100774543 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.402A>T (p.Gly134=) |
single nucleotide variant |
not provided [RCV005137925] |
Chr12:100391048 [GRCh38] Chr12:100784826 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.588+11C>T |
single nucleotide variant |
not provided [RCV005177589] |
Chr12:100393494 [GRCh38] Chr12:100787272 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1756T>C (p.Ser586Pro) |
single nucleotide variant |
not provided [RCV005110856] |
Chr12:100420145 [GRCh38] Chr12:100813923 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1007G>A (p.Ser336Asn) |
single nucleotide variant |
not provided [RCV005179963] |
Chr12:100402699 [GRCh38] Chr12:100796477 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.164dup (p.Gln56fs) |
duplication |
not provided [RCV005120118] |
Chr12:100380762..100380763 [GRCh38] Chr12:100774540..100774541 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.439G>A (p.Gly147Ser) |
single nucleotide variant |
not provided [RCV005124689] |
Chr12:100391085 [GRCh38] Chr12:100784863 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.663A>G (p.Thr221=) |
single nucleotide variant |
not provided [RCV005074628] |
Chr12:100396404 [GRCh38] Chr12:100790182 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.1746G>C (p.Glu582Asp) |
single nucleotide variant |
not provided [RCV005251654] |
Chr12:100420135 [GRCh38] Chr12:100813913 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.653G>A (p.Arg218Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 25 [RCV005393027]|Inborn genetic diseases [RCV005281844] |
Chr12:100396394 [GRCh38] Chr12:100790172 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.325G>A (p.Val109Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV005281843] |
Chr12:100380924 [GRCh38] Chr12:100774702 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.238A>G (p.Ile80Val) |
single nucleotide variant |
Inborn genetic diseases [RCV005281846] |
Chr12:100380837 [GRCh38] Chr12:100774615 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1502T>C (p.Phe501Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005281847] |
Chr12:100419891 [GRCh38] Chr12:100813669 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.725T>C (p.Val242Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV005281848] |
Chr12:100401825 [GRCh38] Chr12:100795603 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1663T>A (p.Cys555Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005281849] |
Chr12:100420052 [GRCh38] Chr12:100813830 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.424A>G (p.Met142Val) |
single nucleotide variant |
Inborn genetic diseases [RCV005281850] |
Chr12:100391070 [GRCh38] Chr12:100784848 [GRCh37] Chr12:12q23.1 |
likely benign |
NM_139319.3(SLC17A8):c.658G>C (p.Ala220Pro) |
single nucleotide variant |
not provided [RCV005417294] |
Chr12:100396399 [GRCh38] Chr12:100790177 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.683A>G (p.Tyr228Cys) |
single nucleotide variant |
not provided [RCV005429788] |
Chr12:100401783 [GRCh38] Chr12:100795561 [GRCh37] Chr12:12q23.1 |
uncertain significance |
NM_139319.3(SLC17A8):c.1216G>C (p.Val406Leu) |
single nucleotide variant |
not provided [RCV005413821] |
Chr12:100412799 [GRCh38] Chr12:100806577 [GRCh37] Chr12:12q23.1 |
uncertain significance |