| NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) |
single nucleotide variant |
not specified [RCV000522096] |
Chr12:100380769 [GRCh38]
Chr12:100774547 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Deafness, autosomal dominant 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 |
AllHighlyPenetrant [RCV000041152]|Nonsyndromic Hearing Loss, Dominant [RCV000305950]|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 |
AllHighlyPenetrant [RCV000041153]|Nonsyndromic Hearing Loss, Dominant [RCV000309472]|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 |
AllHighlyPenetrant [RCV000041154]|Nonsyndromic Hearing Loss, Dominant [RCV000336046]|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 |
AllHighlyPenetrant [RCV000041155]|Nonsyndromic Hearing Loss, Dominant [RCV000333169]|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 |
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 |
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 specified [RCV000156194] |
Chr12:100418015 [GRCh38]
Chr12:100811793 [GRCh37]
Chr12:12q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) |
single nucleotide variant |
not provided [RCV000767164]|not specified [RCV000156602] |
Chr12:100418127 [GRCh38]
Chr12:100811905 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) |
single nucleotide variant |
not provided [RCV000839952]|not specified [RCV000151878] |
Chr12:100380909 [GRCh38]
Chr12:100774687 [GRCh37]
Chr12:12q23.1 |
likely benign|uncertain significance |
| NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) |
single nucleotide variant |
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 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 |
Nonsyndromic Hearing Loss, Dominant [RCV000297494]|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 |
Nonsyndromic Hearing Loss, Dominant [RCV000269634]|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 |
| Single allele |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] |
pathogenic|likely pathogenic |
| NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) |
single nucleotide variant |
not specified [RCV000217844] |
Chr12:100418135 [GRCh38]
Chr12:100811913 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.354+16T>C |
single nucleotide variant |
not specified [RCV000247233] |
Chr12:100380969 [GRCh38]
Chr12:100774747 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.*1521dup |
duplication |
Nonsyndromic Hearing Loss, Dominant [RCV000344089] |
Chr12:100421680 [GRCh38]
Chr12:100815458 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*39A>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000345750] |
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 |
Nonsyndromic Hearing Loss, Dominant [RCV000395766] |
Chr12:100420230 [GRCh38]
Chr12:100814008 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.-32T>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000396555] |
Chr12:100357360 [GRCh38]
Chr12:100751138 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000265974] |
Chr12:100380820 [GRCh38]
Chr12:100774598 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*507G>A |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000371080] |
Chr12:100420666 [GRCh38]
Chr12:100814444 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000285016] |
Chr12:100402707 [GRCh38]
Chr12:100796485 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1520_*1521dup |
duplication |
Nonsyndromic Hearing Loss, Dominant [RCV000349941] |
Chr12:100421679..100421680 [GRCh38]
Chr12:100815457..100815458 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000273450] |
Chr12:100396399 [GRCh38]
Chr12:100790177 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1513_*1521del |
deletion |
Nonsyndromic Hearing Loss, Dominant [RCV000290335] |
Chr12:100421672..100421680 [GRCh38]
Chr12:100815450..100815458 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*178G>A |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000310413] |
Chr12:100420337 [GRCh38]
Chr12:100814115 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*534T>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000276542] |
Chr12:100420693 [GRCh38]
Chr12:100814471 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.-218T>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000293734] |
Chr12:100357174 [GRCh38]
Chr12:100750952 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.-88A>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000337331] |
Chr12:100357304 [GRCh38]
Chr12:100751082 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000338898] |
Chr12:100402605 [GRCh38]
Chr12:100796383 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000387621]|not specified [RCV000606180] |
Chr12:100401823 [GRCh38]
Chr12:100795601 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000279136] |
Chr12:100401862 [GRCh38]
Chr12:100795640 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1486A>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000282829] |
Chr12:100421645 [GRCh38]
Chr12:100815423 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*817A>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000371762] |
Chr12:100420976 [GRCh38]
Chr12:100814754 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000327044] |
Chr12:100393425 [GRCh38]
Chr12:100787203 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000398240] |
Chr12:100380717 [GRCh38]
Chr12:100774495 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1140T>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000263100] |
Chr12:100421299 [GRCh38]
Chr12:100815077 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*335C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [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 specified [RCV000393723] |
Chr12:100393479 [GRCh38]
Chr12:100787257 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000358240] |
Chr12:100380809 [GRCh38]
Chr12:100774587 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.1690G>C (p.Gly564Arg) |
single nucleotide variant |
not specified [RCV000397167] |
Chr12:100420079 [GRCh38]
Chr12:100813857 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000339831] |
Chr12:100402708 [GRCh38]
Chr12:100796486 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000388650]|not provided [RCV000734057] |
Chr12:100396379 [GRCh38]
Chr12:100790157 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1295T>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000318288] |
Chr12:100421454 [GRCh38]
Chr12:100815232 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) |
single nucleotide variant |
Deafness, autosomal dominant 25 [RCV000490397] |
Chr12:100404104 [GRCh38]
Chr12:100797882 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1502T>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000314757] |
Chr12:100421661 [GRCh38]
Chr12:100815439 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.2(SLC17A8):c.*1913T>A |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000323944] |
Chr12:100422072 [GRCh38]
Chr12:100815850 [GRCh37]
Chr12:12q23.1 |
likely benign |
| NM_139319.3(SLC17A8):c.1631_1633AGA[1] (p.Lys545del) |
microsatellite |
Nonsyndromic Hearing Loss, Dominant [RCV000304875] |
Chr12:100420023..100420025 [GRCh38]
Chr12:100813801..100813803 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*715A>C |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000317565] |
Chr12:100420874 [GRCh38]
Chr12:100814652 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*244G>A |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000365060] |
Chr12:100420403 [GRCh38]
Chr12:100814181 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.354+7A>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000366431] |
Chr12:100380960 [GRCh38]
Chr12:100774738 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [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 |
Nonsyndromic Hearing Loss, Dominant [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] |
Chr12:100421657..100421658 [GRCh38]
Chr12:100815435..100815436 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*357A>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000311699] |
Chr12:100420516 [GRCh38]
Chr12:100814294 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1716C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000301086] |
Chr12:100421875 [GRCh38]
Chr12:100815653 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1306C>T |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [RCV000377612] |
Chr12:100421465 [GRCh38]
Chr12:100815243 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1498dup |
duplication |
Nonsyndromic Hearing Loss, Dominant [RCV000378397] |
Chr12:100421657 [GRCh38]
Chr12:100815435 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.*1587A>G |
single nucleotide variant |
Nonsyndromic Hearing Loss, Dominant [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] |
Chr12:100421660..100421661 [GRCh38]
Chr12:100815438..100815439 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.552C>T (p.Cys184=) |
single nucleotide variant |
not specified [RCV000592802] |
Chr12:100393447 [GRCh38]
Chr12:100787225 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| 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 specified [RCV000594299] |
Chr12:100419967 [GRCh38]
Chr12:100813745 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| NM_139319.3(SLC17A8):c.1015_1016delinsAA (p.Ala339Asn) |
indel |
not specified [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 |
not specified [RCV000606968] |
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.903+1G>A |
single nucleotide variant |
Deafness, autosomal dominant 25 [RCV000779086] |
Chr12:100402480 [GRCh38]
Chr12:100796258 [GRCh37]
Chr12:12q23.1 |
uncertain significance |
| 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.1054-46C>G |
single nucleotide variant |
not provided [RCV000844338] |
Chr12:100403992 [GRCh38]
Chr12:100797770 [GRCh37]
Chr12:12q23.1 |
benign |
Gene-Chemical Interaction Annotations
