NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000014072] |
Chr11:110231889 [GRCh38] Chr11:110102614 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.1405dup (p.Ala469fs) |
duplication |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000014073] |
Chr11:110233418..110233419 [GRCh38] Chr11:110104143..110104144 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.463C>T (p.Gln155Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000014074] |
Chr11:110263964 [GRCh38] Chr11:110134689 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.698+1G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000014075] |
Chr11:110257766 [GRCh38] Chr11:110128491 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.1059A>G (p.Gln353=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001108003]|not provided [RCV000892705]|not specified [RCV000037712] |
Chr11:110247734 [GRCh38] Chr11:110118459 [GRCh37] Chr11:11q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn) |
single nucleotide variant |
not provided [RCV001571007]|not specified [RCV000037713] |
Chr11:110233356 [GRCh38] Chr11:110104081 [GRCh37] Chr11:11q22.3 |
likely benign|uncertain significance |
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000275257]|not provided [RCV000881421]|not specified [RCV000037714] |
Chr11:110233337 [GRCh38] Chr11:110104062 [GRCh37] Chr11:11q22.3 |
benign|likely benign|uncertain significance |
NM_002906.4(RDX):c.72A>G (p.Thr24=) |
single nucleotide variant |
not specified [RCV000037715] |
Chr11:110272560 [GRCh38] Chr11:110143285 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.959+3dup |
duplication |
not specified [RCV000037716] |
Chr11:110253942..110253943 [GRCh38] Chr11:110124667..110124668 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 |
copy number gain |
See cases [RCV000053638] |
Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25 |
pathogenic |
NM_002906.4(RDX):c.1282A>G (p.Ile428Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002516139]|not provided [RCV000922492]|not specified [RCV000155954] |
Chr11:110236161 [GRCh38] Chr11:110106886 [GRCh37] Chr11:11q22.3 |
likely benign|uncertain significance |
NM_002906.4(RDX):c.1308del (p.Lys438fs) |
deletion |
Rare genetic deafness [RCV000155993] |
Chr11:110236135 [GRCh38] Chr11:110106860 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.1410C>A (p.Pro470=) |
single nucleotide variant |
not provided [RCV001575580]|not specified [RCV000156135] |
Chr11:110233414 [GRCh38] Chr11:110104139 [GRCh37] Chr11:11q22.3 |
benign|likely benign |
NM_002906.4(RDX):c.1364A>C (p.Asp455Ala) |
single nucleotide variant |
not provided [RCV001850160]|not specified [RCV000156494] |
Chr11:110233460 [GRCh38] Chr11:110104185 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.97-19TGT[3] |
microsatellite |
not provided [RCV001564690]|not specified [RCV000156629] |
Chr11:110264882..110264884 [GRCh38] Chr11:110135607..110135609 [GRCh37] Chr11:11q22.3 |
benign|likely benign|not provided |
NM_002906.4(RDX):c.1341C>A (p.His447Gln) |
single nucleotide variant |
not specified [RCV000151738] |
Chr11:110236102 [GRCh38] Chr11:110106827 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1176G>A (p.Glu392=) |
single nucleotide variant |
not specified [RCV000156833] |
Chr11:110237567 [GRCh38] Chr11:110108292 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.778A>G (p.Ile260Val) |
single nucleotide variant |
not provided [RCV000766845]|not specified [RCV000155275] |
Chr11:110255306 [GRCh38] Chr11:110126031 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.354G>T (p.Pro118=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000342445]|not provided [RCV000827006]|not specified [RCV000151739] |
Chr11:110264073 [GRCh38] Chr11:110134798 [GRCh37] Chr11:11q22.3 |
benign|uncertain significance |
NM_002906.4(RDX):c.256C>G (p.Pro86Ala) |
single nucleotide variant |
not specified [RCV000219753] |
Chr11:110264171 [GRCh38] Chr11:110134896 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.790G>C (p.Ala264Pro) |
single nucleotide variant |
not specified [RCV000214012] |
Chr11:110255294 [GRCh38] Chr11:110126019 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1154A>C (p.Glu385Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003165546]|not provided [RCV001857751]|not specified [RCV000218122] |
Chr11:110237589 [GRCh38] Chr11:110108314 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.995T>C (p.Ile332Thr) |
single nucleotide variant |
not provided [RCV001562098]|not specified [RCV000218314] |
Chr11:110247798 [GRCh38] Chr11:110118523 [GRCh37] Chr11:11q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002906.4(RDX):c.471A>G (p.Val157=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV002485381]|not provided [RCV001577473]|not specified [RCV000218427] |
Chr11:110258186 [GRCh38] Chr11:110128911 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1091-10T>C |
single nucleotide variant |
not specified [RCV000222992] |
Chr11:110237662 [GRCh38] Chr11:110108387 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1548C>T (p.Thr516=) |
single nucleotide variant |
not provided [RCV002519614]|not specified [RCV000216741] |
Chr11:110233276 [GRCh38] Chr11:110104001 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.630T>C (p.Asn210=) |
single nucleotide variant |
not specified [RCV000600172] |
Chr11:110257835 [GRCh38] Chr11:110128560 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.*1368A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000320286] |
Chr11:110230501 [GRCh38] Chr11:110101226 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1313G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000285642] |
Chr11:110230556 [GRCh38] Chr11:110101281 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*722_*724del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000303622] |
Chr11:110231145..110231147 [GRCh38] Chr11:110101870..110101872 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1258_*1263del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000325859] |
Chr11:110230606..110230611 [GRCh38] Chr11:110101331..110101336 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*79A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000271615] |
Chr11:110231790 [GRCh38] Chr11:110102515 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1049G>A (p.Arg350His) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000374116]|not provided [RCV002522178] |
Chr11:110247744 [GRCh38] Chr11:110118469 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1955A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000374163] |
Chr11:110229914 [GRCh38] Chr11:110100639 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*429G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000306940] |
Chr11:110231440 [GRCh38] Chr11:110102165 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1290A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000352117] |
Chr11:110230579 [GRCh38] Chr11:110101304 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1530C>T (p.Ser510=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000329047]|not provided [RCV000904842] |
Chr11:110233294 [GRCh38] Chr11:110104019 [GRCh37] Chr11:11q22.3 |
benign|likely benign|uncertain significance |
NM_002906.4(RDX):c.*1251A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000291099] |
Chr11:110230618 [GRCh38] Chr11:110101343 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*2006A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000259586] |
Chr11:110229863 [GRCh38] Chr11:110100588 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1173A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000294535] |
Chr11:110230696 [GRCh38] Chr11:110101421 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1083G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000335391] |
Chr11:110230786 [GRCh38] Chr11:110101511 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-149C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000276183] |
Chr11:110296551 [GRCh38] Chr11:110167276 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-169C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000314868] |
Chr11:110296571 [GRCh38] Chr11:110167296 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1284G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000360718] |
Chr11:110230585 [GRCh38] Chr11:110101310 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*523_*524del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000360786] |
Chr11:110231345..110231346 [GRCh38] Chr11:110102070..110102071 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.*1234GA[4] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000386506] |
Chr11:110230624..110230627 [GRCh38] Chr11:110101349..110101352 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*885G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000338878] |
Chr11:110230984 [GRCh38] Chr11:110101709 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000339086]|not provided [RCV001289164] |
Chr11:110257863 [GRCh38] Chr11:110128588 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1260GT[12] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000264804] |
Chr11:110230580..110230585 [GRCh38] Chr11:110101305..110101310 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.*923del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000281534] |
Chr11:110230946 [GRCh38] Chr11:110101671 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1162C>A (p.Arg388=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000317117] |
Chr11:110237581 [GRCh38] Chr11:110108306 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*156A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000363910] |
Chr11:110231713 [GRCh38] Chr11:110102438 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1579A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000265216] |
Chr11:110230290 [GRCh38] Chr11:110101015 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.836G>T (p.Arg279Leu) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000281752] |
Chr11:110254069 [GRCh38] Chr11:110124794 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1961G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000319471] |
Chr11:110229908 [GRCh38] Chr11:110100633 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000367552]|Inborn genetic diseases [RCV002520670] |
Chr11:110233320 [GRCh38] Chr11:110104045 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1260GT[17] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000270781] |
Chr11:110230579..110230580 [GRCh38] Chr11:110101304..110101305 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1251A>G (p.Leu417=) |
single nucleotide variant |
not provided [RCV000271360] |
Chr11:110237492 [GRCh38] Chr11:110108217 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1188T>C (p.Ala396=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000259513] |
Chr11:110237555 [GRCh38] Chr11:110108280 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-105C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000368258] |
Chr11:110296507 [GRCh38] Chr11:110167232 [GRCh37] Chr11:11q22.3 |
likely benign|uncertain significance |
NM_002906.4(RDX):c.468-12dup |
duplication |
Nonsyndromic Hearing Loss, Recessive [RCV000285118]|not provided [RCV001558429] |
Chr11:110258200..110258201 [GRCh38] Chr11:110128925..110128926 [GRCh37] Chr11:11q22.3 |
likely benign|uncertain significance |
NM_002906.4(RDX):c.*1285_*1289TG[2]TTTGTGT[1] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000298706] |
Chr11:110230579..110230580 [GRCh38] Chr11:110101304..110101305 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1289_*1290insGTGTGC |
insertion |
Nonsyndromic Hearing Loss, Recessive [RCV000300005] |
Chr11:110230579..110230580 [GRCh38] Chr11:110101304..110101305 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.777A>G (p.Pro259=) |
single nucleotide variant |
not provided [RCV000276338] |
Chr11:110255307 [GRCh38] Chr11:110126032 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-221C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000262279] |
Chr11:110296623 [GRCh38] Chr11:110167348 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-64-6del |
deletion |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001731577]|Nonsyndromic Hearing Loss, Recessive [RCV000307852]|not provided [RCV001718612] |
Chr11:110279762 [GRCh38] Chr11:110150487 [GRCh37] Chr11:11q22.3 |
benign|likely benign |
NM_002906.4(RDX):c.*1287_*1288insTTGT |
insertion |
Nonsyndromic Hearing Loss, Recessive [RCV000324610] |
Chr11:110230581..110230582 [GRCh38] Chr11:110101306..110101307 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.780C>T (p.Ile260=) |
single nucleotide variant |
not provided [RCV000284883] |
Chr11:110255304 [GRCh38] Chr11:110126029 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1260GT[18] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000353518] |
Chr11:110230579..110230580 [GRCh38] Chr11:110101304..110101305 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1411C>G (p.Pro471Ala) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000332763]|not provided [RCV002520671] |
Chr11:110233413 [GRCh38] Chr11:110104138 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1305GA[7] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000379545] |
Chr11:110230554..110230555 [GRCh38] Chr11:110101279..110101280 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1260GT[19] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000391860] |
Chr11:110230579..110230580 [GRCh38] Chr11:110101304..110101305 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-305G>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000265925] |
Chr11:110296707 [GRCh38] Chr11:110167432 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1411C>T (p.Pro471Ser) |
single nucleotide variant |
not provided [RCV000401456] |
Chr11:110233413 [GRCh38] Chr11:110104138 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1075A>G (p.Ile359Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003268160] |
Chr11:110247718 [GRCh38] Chr11:110118443 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.*1234GA[5] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000329694] |
Chr11:110230624..110230625 [GRCh38] Chr11:110101349..110101350 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1288_*1291del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000291504] |
Chr11:110230578..110230581 [GRCh38] Chr11:110101303..110101306 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1285_*1290dup |
duplication |
Nonsyndromic Hearing Loss, Recessive [RCV000346237] |
Chr11:110230578..110230579 [GRCh38] Chr11:110101303..110101304 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1290_*1291del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000381145] |
Chr11:110230578..110230579 [GRCh38] Chr11:110101303..110101304 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*800C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000400175] |
Chr11:110231069 [GRCh38] Chr11:110101794 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1289_*1290del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000400772] |
Chr11:110230579..110230580 [GRCh38] Chr11:110101304..110101305 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1285_*1290del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000292508] |
Chr11:110230579..110230584 [GRCh38] Chr11:110101304..110101309 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-64-7_-64-6del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000346453] |
Chr11:110279762..110279763 [GRCh38] Chr11:110150487..110150488 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-65+12C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000400986] |
Chr11:110296455 [GRCh38] Chr11:110167180 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-64-6dup |
duplication |
Nonsyndromic Hearing Loss, Recessive [RCV000401789]|not provided [RCV001590923] |
Chr11:110279761..110279762 [GRCh38] Chr11:110150486..110150487 [GRCh37] Chr11:11q22.3 |
likely benign|uncertain significance |
NM_002906.4(RDX):c.*1248GA[4] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000385094] |
Chr11:110230612..110230613 [GRCh38] Chr11:110101337..110101338 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-290C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000319662] |
Chr11:110296692 [GRCh38] Chr11:110167417 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1195G>A (p.Ala399Thr) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000389591] |
Chr11:110237548 [GRCh38] Chr11:110108273 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-309T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000323284] |
Chr11:110296711 [GRCh38] Chr11:110167436 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*463A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000390952] |
Chr11:110231406 [GRCh38] Chr11:110102131 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*2057T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000354364] |
Chr11:110229812 [GRCh38] Chr11:110100537 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-179C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000354741] |
Chr11:110296581 [GRCh38] Chr11:110167306 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-76C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000311222] |
Chr11:110296478 [GRCh38] Chr11:110167203 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1058G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000394549] |
Chr11:110230811 [GRCh38] Chr11:110101536 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1291del |
deletion |
Nonsyndromic Hearing Loss, Recessive [RCV000326634] |
Chr11:110230578 [GRCh38] Chr11:110101303 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-297C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000376657] |
Chr11:110296699 [GRCh38] Chr11:110167424 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1260GT[14] |
microsatellite |
Nonsyndromic Hearing Loss, Recessive [RCV000359495] |
Chr11:110230580..110230581 [GRCh38] Chr11:110101305..110101306 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.507A>G (p.Glu169=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000377287] |
Chr11:110258150 [GRCh38] Chr11:110128875 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*2423C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000313565] |
Chr11:110229446 [GRCh38] Chr11:110100171 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.467+1G>A |
single nucleotide variant |
not provided [RCV000429322] |
Chr11:110263959 [GRCh38] Chr11:110134684 [GRCh37] Chr11:11q22.3 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q22.3(chr11:109558847-110079020)x3 |
copy number gain |
See cases [RCV000511370] |
Chr11:109558847..110079020 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_002906.4(RDX):c.564G>C (p.Met188Ile) |
single nucleotide variant |
not provided [RCV000595667] |
Chr11:110257901 [GRCh38] Chr11:110128626 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.376G>C (p.Ala126Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003289902] |
Chr11:110264051 [GRCh38] Chr11:110134776 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1413T>C (p.Pro471=) |
single nucleotide variant |
not specified [RCV000609776] |
Chr11:110233411 [GRCh38] Chr11:110104136 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1037A>C (p.Glu346Ala) |
single nucleotide variant |
not provided [RCV001358542]|not specified [RCV000600590] |
Chr11:110247756 [GRCh38] Chr11:110118481 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1345-7T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107354]|not provided [RCV000597409] |
Chr11:110233486 [GRCh38] Chr11:110104211 [GRCh37] Chr11:11q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002906.4(RDX):c.119G>T (p.Arg40Leu) |
single nucleotide variant |
not specified [RCV000608130] |
Chr11:110264852 [GRCh38] Chr11:110135577 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.906A>G (p.Val302=) |
single nucleotide variant |
not specified [RCV000609008] |
Chr11:110253999 [GRCh38] Chr11:110124724 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.796-9T>C |
single nucleotide variant |
not provided [RCV001707809] |
Chr11:110254118 [GRCh38] Chr11:110124843 [GRCh37] Chr11:11q22.3 |
likely benign |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 |
copy number gain |
not provided [RCV000683374] |
Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 |
copy number loss |
not provided [RCV000737595] |
Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_002906.4(RDX):c.1090+64T>G |
single nucleotide variant |
not provided [RCV001649129] |
Chr11:110247639 [GRCh38] Chr11:110118364 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1587+38T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001796697]|not provided [RCV001680404] |
Chr11:110233199 [GRCh38] Chr11:110103924 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1345-219_1345-218insGAC |
insertion |
not provided [RCV001611757] |
Chr11:110233697..110233698 [GRCh38] Chr11:110104422..110104423 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.97-224del |
deletion |
not provided [RCV001549991] |
Chr11:110265098 [GRCh38] Chr11:110135823 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1272C>T (p.Phe424=) |
single nucleotide variant |
not provided [RCV000906765] |
Chr11:110236171 [GRCh38] Chr11:110106896 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1707A>T (p.Arg569=) |
single nucleotide variant |
not specified [RCV000825224] |
Chr11:110231914 [GRCh38] Chr11:110102639 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.551+2T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000790510] |
Chr11:110258104 [GRCh38] Chr11:110128829 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.910C>T (p.Gln304Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000778301]|not provided [RCV002223935] |
Chr11:110253995 [GRCh38] Chr11:110124720 [GRCh37] Chr11:11q22.3 |
likely pathogenic|uncertain significance |
NM_002906.4(RDX):c.573C>A (p.Tyr191Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV000778302] |
Chr11:110257892 [GRCh38] Chr11:110128617 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1260A>G (p.Glu420=) |
single nucleotide variant |
not provided [RCV000952969] |
Chr11:110236183 [GRCh38] Chr11:110106908 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.468-80G>C |
single nucleotide variant |
not provided [RCV000842695] |
Chr11:110258269 [GRCh38] Chr11:110128994 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1729A>G (p.Ile577Val) |
single nucleotide variant |
not specified [RCV000826030] |
Chr11:110231892 [GRCh38] Chr11:110102617 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1106C>G (p.Thr369Ser) |
single nucleotide variant |
not provided [RCV001858412]|not specified [RCV000826031] |
Chr11:110237637 [GRCh38] Chr11:110108362 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1551A>G (p.Glu517=) |
single nucleotide variant |
not provided [RCV000938727] |
Chr11:110233273 [GRCh38] Chr11:110103998 [GRCh37] Chr11:11q22.3 |
likely benign |
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 |
copy number loss |
not provided [RCV001006445] |
Chr11:105699599..114524876 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 |
copy number loss |
not provided [RCV000848741] |
Chr11:104101411..116680918 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
NM_002906.4(RDX):c.1251+14T>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107355] |
Chr11:110237478 [GRCh38] Chr11:110108203 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*2253C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104505] |
Chr11:110229616 [GRCh38] Chr11:110100341 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*2085A>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104507] |
Chr11:110229784 [GRCh38] Chr11:110100509 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*474A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104605] |
Chr11:110231395 [GRCh38] Chr11:110102120 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104608] |
Chr11:110233247 [GRCh38] Chr11:110103972 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-240C>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104696] |
Chr11:110296642 [GRCh38] Chr11:110167367 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1264G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107913] |
Chr11:110230605 [GRCh38] Chr11:110101330 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1215G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107914] |
Chr11:110230654 [GRCh38] Chr11:110101379 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.6G>A (p.Pro2=) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102780]|not provided [RCV001564567] |
Chr11:110279687 [GRCh38] Chr11:110150412 [GRCh37] Chr11:11q22.3 |
likely benign|uncertain significance |
NM_002906.3(RDX):c.-272A>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001105853] |
Chr11:110296674 [GRCh38] Chr11:110167399 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-285A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001105854] |
Chr11:110296687 [GRCh38] Chr11:110167412 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1345-18C>T |
single nucleotide variant |
not provided [RCV001643720] |
Chr11:110233497 [GRCh38] Chr11:110104222 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1251+44T>C |
single nucleotide variant |
not provided [RCV001550109] |
Chr11:110237448 [GRCh38] Chr11:110108173 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.471A>T (p.Val157=) |
single nucleotide variant |
not provided [RCV001570279] |
Chr11:110258186 [GRCh38] Chr11:110128911 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.119G>A (p.Arg40His) |
single nucleotide variant |
Inborn genetic diseases [RCV003251430] |
Chr11:110264852 [GRCh38] Chr11:110135577 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1251+23dup |
duplication |
not provided [RCV001554889] |
Chr11:110237463..110237464 [GRCh38] Chr11:110108188..110108189 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.-64-110dup |
duplication |
not provided [RCV001653997] |
Chr11:110279865..110279866 [GRCh38] Chr11:110150590..110150591 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1090+249A>C |
single nucleotide variant |
not provided [RCV001576407] |
Chr11:110247454 [GRCh38] Chr11:110118179 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1410C>G (p.Pro470=) |
single nucleotide variant |
not provided [RCV001556507] |
Chr11:110233414 [GRCh38] Chr11:110104139 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1515A>G (p.Val505=) |
single nucleotide variant |
not provided [RCV000939794] |
Chr11:110233309 [GRCh38] Chr11:110104034 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.3(RDX):c.-291G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001105855] |
Chr11:110296693 [GRCh38] Chr11:110167418 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1632A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107263] |
Chr11:110230237 [GRCh38] Chr11:110100962 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107352] |
Chr11:110233277 [GRCh38] Chr11:110104002 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*855T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102683] |
Chr11:110231014 [GRCh38] Chr11:110101739 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.698+14T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001108004] |
Chr11:110257753 [GRCh38] Chr11:110128478 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.301C>T (p.Leu101Phe) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102779] |
Chr11:110264126 [GRCh38] Chr11:110134851 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.236A>G (p.Lys79Arg) |
single nucleotide variant |
not provided [RCV002464858] |
Chr11:110264191 [GRCh38] Chr11:110134916 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.97-234dup |
duplication |
not provided [RCV001558484] |
Chr11:110265097..110265098 [GRCh38] Chr11:110135822..110135823 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.13-301G>A |
single nucleotide variant |
not provided [RCV001555841] |
Chr11:110272920 [GRCh38] Chr11:110143645 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.97-241_97-240insC |
insertion |
not provided [RCV001616015] |
Chr11:110265114..110265115 [GRCh38] Chr11:110135839..110135840 [GRCh37] Chr11:11q22.3 |
benign |
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 |
copy number loss |
not provided [RCV001006439] |
Chr11:103320065..114349787 [GRCh37] Chr11:11q22.3-23.2 |
pathogenic |
NM_002906.4(RDX):c.12+191G>A |
single nucleotide variant |
not provided [RCV001696327] |
Chr11:110279490 [GRCh38] Chr11:110150215 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1587+173C>T |
single nucleotide variant |
not provided [RCV001619188] |
Chr11:110233064 [GRCh38] Chr11:110103789 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.96+207T>C |
single nucleotide variant |
not provided [RCV001636149] |
Chr11:110272329 [GRCh38] Chr11:110143054 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.*2112A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104506] |
Chr11:110229757 [GRCh38] Chr11:110100482 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*2070A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104508] |
Chr11:110229799 [GRCh38] Chr11:110100524 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.3(RDX):c.-270G>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104697] |
Chr11:110296672 [GRCh38] Chr11:110167397 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.-133C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104695] |
Chr11:110296535 [GRCh38] Chr11:110167260 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1143G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102682] |
Chr11:110230726 [GRCh38] Chr11:110101451 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*740C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102685] |
Chr11:110231129 [GRCh38] Chr11:110101854 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1383G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107265] |
Chr11:110230486 [GRCh38] Chr11:110101211 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1375G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107266] |
Chr11:110230494 [GRCh38] Chr11:110101219 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107353] |
Chr11:110233329 [GRCh38] Chr11:110104054 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*762C>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102684] |
Chr11:110231107 [GRCh38] Chr11:110101832 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1358C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107267] |
Chr11:110230511 [GRCh38] Chr11:110101236 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1398G>T (p.Val466=) |
single nucleotide variant |
not provided [RCV001575084] |
Chr11:110233426 [GRCh38] Chr11:110104151 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1344+78G>A |
single nucleotide variant |
not provided [RCV001644229] |
Chr11:110236021 [GRCh38] Chr11:110106746 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1344+222A>G |
single nucleotide variant |
not provided [RCV001575342] |
Chr11:110235877 [GRCh38] Chr11:110106602 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.-91G>A |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001102781] |
Chr11:110296493 [GRCh38] Chr11:110167218 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1898A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107262] |
Chr11:110229971 [GRCh38] Chr11:110100696 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1536T>C |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107264] |
Chr11:110230333 [GRCh38] Chr11:110101058 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*1201A>G |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001107915] |
Chr11:110230668 [GRCh38] Chr11:110101393 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*414A>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104606] |
Chr11:110231455 [GRCh38] Chr11:110102180 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.*302C>T |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001104607] |
Chr11:110231567 [GRCh38] Chr11:110102292 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.401A>G (p.Tyr134Cys) |
single nucleotide variant |
not provided [RCV002284913] |
Chr11:110264026 [GRCh38] Chr11:110134751 [GRCh37] Chr11:11q22.3 |
uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_002906.4(RDX):c.960-236C>G |
single nucleotide variant |
not provided [RCV001540470] |
Chr11:110248069 [GRCh38] Chr11:110118794 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001262022] |
Chr11:110237635 [GRCh38] Chr11:110108360 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.682_685del (p.Tyr228fs) |
deletion |
not provided [RCV001382842] |
Chr11:110257780..110257783 [GRCh38] Chr11:110128505..110128508 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.-64-1215_12+348del |
deletion |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001375665] |
Chr11:110279333..110280971 [GRCh38] Chr11:110150058..110151696 [GRCh37] Chr11:11q22.3 |
likely pathogenic |
NM_002906.4(RDX):c.1568G>A (p.Arg523His) |
single nucleotide variant |
not provided [RCV002280050] |
Chr11:110233256 [GRCh38] Chr11:110103981 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.694G>A (p.Asp232Asn) |
single nucleotide variant |
Hearing impairment [RCV001375399] |
Chr11:110257771 [GRCh38] Chr11:110128496 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.108_111del (p.Gly38fs) |
deletion |
Deafness, autosomal recessive 24 [RCV001335996] |
Chr11:110264860..110264863 [GRCh38] Chr11:110135585..110135588 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.1024C>T (p.Arg342Cys) |
single nucleotide variant |
Hearing impairment [RCV001375311] |
Chr11:110247769 [GRCh38] Chr11:110118494 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.129G>A (p.Trp43Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001375666] |
Chr11:110264842 [GRCh38] Chr11:110135567 [GRCh37] Chr11:11q22.3 |
pathogenic |
NC_000011.9:g.(?_94153285)_(111965700_?)del |
deletion |
Ataxia-telangiectasia syndrome [RCV001389105] |
Chr11:94153285..111965700 [GRCh37] Chr11:11q21-23.1 |
pathogenic |
NM_002906.4(RDX):c.97-235C>A |
single nucleotide variant |
not provided [RCV001694699] |
Chr11:110265109 [GRCh38] Chr11:110135834 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.467+77dup |
duplication |
not provided [RCV001619327] |
Chr11:110263868..110263869 [GRCh38] Chr11:110134593..110134594 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.1344+290T>G |
single nucleotide variant |
not provided [RCV001590802] |
Chr11:110235809 [GRCh38] Chr11:110106534 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.13-202C>T |
single nucleotide variant |
not provided [RCV001587839] |
Chr11:110272821 [GRCh38] Chr11:110143546 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.699-87T>C |
single nucleotide variant |
not provided [RCV001644376] |
Chr11:110255472 [GRCh38] Chr11:110126197 [GRCh37] Chr11:11q22.3 |
benign |
NC_000011.9:g.104288964_134937416dup |
duplication |
Distal trisomy 11q [RCV001250234] |
Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25 |
pathogenic |
NM_002906.4(RDX):c.1141C>T (p.Arg381Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001783677] |
Chr11:110237602 [GRCh38] Chr11:110108327 [GRCh37] Chr11:11q22.3 |
likely pathogenic |
NM_002906.4(RDX):c.513_514del (p.Arg171fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001809329] |
Chr11:110258143..110258144 [GRCh38] Chr11:110128868..110128869 [GRCh37] Chr11:11q22.3 |
likely pathogenic |
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV001807970] |
Chr11:110237608 [GRCh38] Chr11:110108333 [GRCh37] Chr11:11q22.3 |
likely pathogenic |
NM_002906.4(RDX):c.339T>G (p.Asp113Glu) |
single nucleotide variant |
not provided [RCV001912164] |
Chr11:110264088 [GRCh38] Chr11:110134813 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.146A>G (p.Tyr49Cys) |
single nucleotide variant |
not provided [RCV001908479] |
Chr11:110264825 [GRCh38] Chr11:110135550 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.761A>T (p.Lys254Ile) |
single nucleotide variant |
not provided [RCV001891533] |
Chr11:110255323 [GRCh38] Chr11:110126048 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.194_195insTGT (p.Val65dup) |
insertion |
not provided [RCV002006222] |
Chr11:110264232..110264233 [GRCh38] Chr11:110134957..110134958 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 |
copy number loss |
not provided [RCV001832892] |
Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3 |
uncertain significance |
GRCh37/hg19 11q22.3(chr11:110130586-110269484) |
copy number gain |
not specified [RCV002052954] |
Chr11:110130586..110269484 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1497A>T (p.Glu499Asp) |
single nucleotide variant |
not provided [RCV001943927] |
Chr11:110233327 [GRCh38] Chr11:110104052 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1421C>T (p.Pro474Leu) |
single nucleotide variant |
not provided [RCV001886744] |
Chr11:110233403 [GRCh38] Chr11:110104128 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.192+42G>A |
single nucleotide variant |
not provided [RCV002034870] |
Chr11:110264737 [GRCh38] Chr11:110135462 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.698+16G>T |
single nucleotide variant |
not provided [RCV002206385] |
Chr11:110257751 [GRCh38] Chr11:110128476 [GRCh37] Chr11:11q22.3 |
benign |
NM_002906.4(RDX):c.959+13T>C |
single nucleotide variant |
not provided [RCV002190557] |
Chr11:110253933 [GRCh38] Chr11:110124658 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.123G>A (p.Glu41=) |
single nucleotide variant |
not provided [RCV002085399] |
Chr11:110264848 [GRCh38] Chr11:110135573 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.698+19T>C |
single nucleotide variant |
not provided [RCV002086912] |
Chr11:110257748 [GRCh38] Chr11:110128473 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.467+15C>A |
single nucleotide variant |
not provided [RCV002100123] |
Chr11:110263945 [GRCh38] Chr11:110134670 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.796-39C>G |
single nucleotide variant |
not provided [RCV002244480] |
Chr11:110254148 [GRCh38] Chr11:110124873 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1365C>T (p.Asp455=) |
single nucleotide variant |
not provided [RCV002140466] |
Chr11:110233459 [GRCh38] Chr11:110104184 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1588-16T>C |
single nucleotide variant |
not provided [RCV002198657] |
Chr11:110232049 [GRCh38] Chr11:110102774 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.484_487del (p.His161_Lys162insTer) |
deletion |
not provided [RCV003112228] |
Chr11:110258170..110258173 [GRCh38] Chr11:110128895..110128898 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro) |
single nucleotide variant |
Autosomal recessive nonsyndromic hearing loss 24 [RCV003120237] |
Chr11:110233323 [GRCh38] Chr11:110104048 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.766G>C (p.Val256Leu) |
single nucleotide variant |
not provided [RCV002256953] |
Chr11:110255318 [GRCh38] Chr11:110126043 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.652C>T (p.Leu218=) |
single nucleotide variant |
not provided [RCV002262367] |
Chr11:110257813 [GRCh38] Chr11:110128538 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1346del (p.Ala449fs) |
deletion |
Autosomal recessive nonsyndromic hearing loss 24 [RCV002271980] |
Chr11:110233478 [GRCh38] Chr11:110104203 [GRCh37] Chr11:11q22.3 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
NM_002906.4(RDX):c.1136G>A (p.Arg379Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003260709] |
Chr11:110237607 [GRCh38] Chr11:110108332 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1 |
copy number loss |
not provided [RCV002474547] |
Chr11:109328787..116414966 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
NM_002906.4(RDX):c.1688A>G (p.Lys563Arg) |
single nucleotide variant |
not provided [RCV002467068] |
Chr11:110231933 [GRCh38] Chr11:110102658 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.413A>G (p.Asn138Ser) |
single nucleotide variant |
not provided [RCV002474088] |
Chr11:110264014 [GRCh38] Chr11:110134739 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.836G>A (p.Arg279Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002682267] |
Chr11:110254069 [GRCh38] Chr11:110124794 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1706G>A (p.Arg569Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002794412] |
Chr11:110231915 [GRCh38] Chr11:110102640 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1417C>T (p.Pro473Ser) |
single nucleotide variant |
not provided [RCV002907703] |
Chr11:110233407 [GRCh38] Chr11:110104132 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.989G>C (p.Arg330Thr) |
single nucleotide variant |
not provided [RCV003039589] |
Chr11:110247804 [GRCh38] Chr11:110118529 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1473G>A (p.Glu491=) |
single nucleotide variant |
not provided [RCV002590336] |
Chr11:110233351 [GRCh38] Chr11:110104076 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.764T>G (p.Phe255Cys) |
single nucleotide variant |
not provided [RCV002824511] |
Chr11:110255320 [GRCh38] Chr11:110126045 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.354G>A (p.Pro118=) |
single nucleotide variant |
not provided [RCV002795679] |
Chr11:110264073 [GRCh38] Chr11:110134798 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.131T>G (p.Phe44Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002830611] |
Chr11:110264840 [GRCh38] Chr11:110135565 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.436T>C (p.Tyr146His) |
single nucleotide variant |
Inborn genetic diseases [RCV002830429] |
Chr11:110263991 [GRCh38] Chr11:110134716 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.399G>A (p.Lys133=) |
single nucleotide variant |
not provided [RCV003005868] |
Chr11:110264028 [GRCh38] Chr11:110134753 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.466C>T (p.Arg156Cys) |
single nucleotide variant |
not provided [RCV002595934] |
Chr11:110263961 [GRCh38] Chr11:110134686 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.387T>C (p.Ala129=) |
single nucleotide variant |
not provided [RCV002711263] |
Chr11:110264040 [GRCh38] Chr11:110134765 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.693C>T (p.Asp231=) |
single nucleotide variant |
not provided [RCV002786617] |
Chr11:110257772 [GRCh38] Chr11:110128497 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1005G>A (p.Lys335=) |
single nucleotide variant |
not provided [RCV002651239] |
Chr11:110247788 [GRCh38] Chr11:110118513 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1452C>T (p.Asn484=) |
single nucleotide variant |
not provided [RCV002601263] |
Chr11:110233372 [GRCh38] Chr11:110104097 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.648G>A (p.Leu216=) |
single nucleotide variant |
not provided [RCV002609628] |
Chr11:110257817 [GRCh38] Chr11:110128542 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1410C>T (p.Pro470=) |
single nucleotide variant |
not provided [RCV002653917] |
Chr11:110233414 [GRCh38] Chr11:110104139 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_002906.4(RDX):c.1253C>T (p.Ala418Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002679940] |
Chr11:110236190 [GRCh38] Chr11:110106915 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1522C>T (p.His508Tyr) |
single nucleotide variant |
not provided [RCV003227167] |
Chr11:110233302 [GRCh38] Chr11:110104027 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.720del (p.Trp242fs) |
deletion |
not provided [RCV003222743] |
Chr11:110255364 [GRCh38] Chr11:110126089 [GRCh37] Chr11:11q22.3 |
pathogenic |
NM_002906.4(RDX):c.158A>G (p.Lys53Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003211203] |
Chr11:110264813 [GRCh38] Chr11:110135538 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.1384G>C (p.Glu462Gln) |
single nucleotide variant |
not provided [RCV003228515] |
Chr11:110233440 [GRCh38] Chr11:110104165 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.830A>G (p.Asn277Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003215758] |
Chr11:110254075 [GRCh38] Chr11:110124800 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_002906.4(RDX):c.425A>G (p.His142Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003285153] |
Chr11:110264002 [GRCh38] Chr11:110134727 [GRCh37] Chr11:11q22.3 |
uncertain significance |