S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 440

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SLC26A4Pendred syndromePathogenic
(Oct 1, 2003)
no assertion criteria provided
2.
SLC26A4Pendred syndromePathogenic
(Jul 1, 2000)
no assertion criteria provided
3.
SLC26A4Pendred syndromePathogenic
(Jul 1, 2000)
no assertion criteria provided
4.
SLC26A4Pendred syndromePathogenic
(Jan 1, 1999)
no assertion criteria provided
5.
SLC26A4Enlarged vestibular aqueductPathogenic
(Feb 1, 1999)
no assertion criteria provided
6.
SLC26A4Enlarged vestibular aqueductPathogenic
(Feb 1, 1999)
no assertion criteria provided
7.
SLC26A4Pendred syndromePathogenic
(Dec 1, 1997)
no assertion criteria provided
8.
SLC26A4Pendred syndromePathogenic
(Dec 1, 1997)
no assertion criteria provided
9.
GRCh37:
Chr7:12258147-140494267
ACHE, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPTIN7, CDK6, CFTR, CHN2, CHRM2, AP1S1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EPHB4, EPO, ERV3-1, ETV1, EVX1, FLNC, GARS, NIPSNAP2, GCK, GHRHR, GLI3, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HUS1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, IRF5, ITGB8, KCND2, LAMB1, LEP, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, MUC3A, NDUFA5, NDUFB2, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR2B, RELN, PSMA2, PSMC2, PSPH, PTN, PTPN12, PTPRZ1, PURB, RALA, RFC2, RNU2-1, RP9, CCL24, SFRP4, SLC13A1, SMO, SP4, SPAM1, SRI, AKR1D1, SRPK2, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, ZAN, EIF4H, CLIP2, LAT2, WNT2, YWHAG, ZNF3, ZKSCAN1, ZSCAN21, ZNF138, ZP3, MTERF1, SEM1, TFPI2, ST7, TRRAP, FZD1, FZD9, TPST1, FKBP6, CDK13, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, BCL7B, ATP6V1F, PMPCB, ATP5MF, GTF2IRD1, CREB5, NFE2L3, SEMA3E, DOCK4, HDAC9, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, DMTF1, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, DBF4, COPS6, ZPBP, DUS4L, NUP42, HIBADH, ZNF277, INMT, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, DPY19L1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, AUTS2, TES, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, SND1, VPS41, TSPAN13, DENND2A, BBS9, CRCP, RABGEF1, POLM, PCLO, BZW2, DBNL, WDR91, NPC1L1, SNX10, TRA2A, HILPDA, MDFIC, PILRA, FSCN3, ERVW-1, ATP6V0A4, PNPLA8, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, ZNF107, ZC3HC1, SRRT, UBE2D4, LUC7L2, STYXL1, ASB4, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, ANLN, ANKIB1, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ALKBH4, SAMD9, CHCHD3, FKBP14, ZCWPW1, TMEM248, RBM28, TYW1, MAP11, TMEM140, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, COA1, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, ANKRD7, ZC3HAV1, SLC12A9, SDHAF3, YAE1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, RHBDD2, STRIP2, CCDC146, KIAA1549, GATAD1, NFE4, MYL7, EXOC4, RINT1, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, GALNT17, TMEM168, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, CYREN, GGCT, C7orf25, ZNF655, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, SUGCT, CFAP69, CBLL1, CPED1, TTC26, C7orf69, ORAI2, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, GTF2IRD2, MINDY4, SLC37A3, DNAJC30, FAM126A, FAM71F1, PLEKHA8, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, DTX2, BUD23, TSGA13, MALSU1, TMEM270, TRIM50, COL26A1, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, METTL27, VPS37D, AGR3, ZNF92, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, BHLHA15, BMPER, ZNF800, ABHD11-AS1, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, ITPRID1, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, STEAP2, POM121L12, C7orf71, SPDYE1, SNHG15, ZNF789, LSMEM1, MESTIT1, ST7-OT4, ZNF680, ABCB5, FAM221A, TSPAN33, AGBL3, SEPTIN14, MACC1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, GJC3, CASTOR3, GPR141, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, AGMO, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, ZNF727, SPDYE5, LMOD2, MIR335, MIR196B, TARP, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, WIPF3, STMP1, NCF1, SNORA5C, MIR590, ZNF736, CASTOR2, SPDYE6, CRPPA, TMEM229A, ZNF735, LUZP6, POM121C, HECW1-IT1, SPATA48, UPK3BL1, RASA4B, SMKR1, SPDYE2B, HOTTIP, SAP25, LINC00972, LRRC72, HOTAIRM1, ATP5MF-PTCD1, KLHL7-DT, FMC1-LUC7L2, ZASP, LOC101928861
Pleomorphic xanthoastrocytomaPathogenicno assertion criteria provided
10.
GRCh37:
Chr7:107301115
GRCh38:
Chr7:107660670
SLC26A4, SLC26A4-AS1not specifiedUncertain significance
(Jun 22, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr7:107301118
GRCh38:
Chr7:107660673
SLC26A4, SLC26A4-AS1Pendred syndrome, Nonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr7:107301147
GRCh38:
Chr7:107660702
SLC26A4, SLC26A4-AS1not specifiedUncertain significance
(Jun 22, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr7:107301165
GRCh38:
Chr7:107660720
SLC26A4, SLC26A4-AS1Pendred syndrome, not specified, Nonsyndromic Hearing Loss, Recessive
Uncertain significance
(Sep 1, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:107301201
GRCh38:
Chr7:107660756
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndrome, not specified,
not provided, SLC26A4-Related Disorders
Conflicting interpretations of pathogenicity
(Mar 26, 2018)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr7:107301238
GRCh38:
Chr7:107660793
SLC26A4, SLC26A4-AS1not specifiedLikely benign
(Jan 20, 2012)
criteria provided, single submitter
16.
GRCh37:
Chr7:107301238
GRCh38:
Chr7:107660793
SLC26A4, SLC26A4-AS1Pendred syndrome, not specified, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:107301296
GRCh38:
Chr7:107660851
SLC26A4, SLC26A4-AS1Pendred syndrome, Nonsyndromic Hearing Loss, RecessiveUncertain significance
(Sep 20, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:107301305
GRCh38:
Chr7:107660860
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(Jun 17, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr7:107302082
GRCh38:
Chr7:107661637
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndromePathogenic/Likely pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr7:107302088
GRCh38:
Chr7:107661643
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndromePathogenic
(Nov 22, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr7:107302089
GRCh38:
Chr7:107661644
SLC26A4, SLC26A4-AS1Pendred syndrome, not providedPathogenic/Likely pathogenic
(Oct 11, 2018)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:107302101
GRCh38:
Chr7:107661656
SLC26A4, SLC26A4-AS1Pendred syndrome, not specifiedBenign/Likely benign
(May 29, 2018)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:107302103
GRCh38:
Chr7:107661658
SLC26A4, SLC26A4-AS1Pendred syndrome, not specified, not provided
Benign/Likely benign
(Jan 23, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:107302114
GRCh38:
Chr7:107661669
SLC26A4, SLC26A4-AS1Pendred syndrome, not specified, not provided
Uncertain significance
(Feb 6, 2017)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr7:107302125
GRCh38:
Chr7:107661680
SLC26A4, SLC26A4-AS1not providedLikely benign
(Jun 14, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr7:107302128
GRCh38:
Chr7:107661683
SLC26A4, SLC26A4-AS1DeafnessPathogenic
(Sep 10, 2018)
no assertion criteria provided
27.
GRCh37:
Chr7:107302133-107302139
GRCh38:
Chr7:107661694-107661699
SLC26A4, SLC26A4-AS1Pendred syndromeUncertain significance
(Mar 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr7:107302141
GRCh38:
Chr7:107661696
SLC26A4, SLC26A4-AS1Pendred syndromeLikely pathogenic
(Mar 10, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr7:107302147
GRCh38:
Chr7:107661702
SLC26A4, SLC26A4-AS1not specifiedLikely benign
(Jan 17, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr7:107302154
GRCh38:
Chr7:107661709
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndrome, not provided
Pathogenic/Likely pathogenic
(Sep 20, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr7:107302161
GRCh38:
Chr7:107661716
SLC26A4, SLC26A4-AS1not specifiedLikely benign
(Jul 11, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr7:107302168
GRCh38:
Chr7:107661723
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueductPathogenic
(Jul 1, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr7:107302170
GRCh38:
Chr7:107661725
SLC26A4, SLC26A4-AS1Pendred syndrome, not providedPathogenic/Likely pathogenic
(May 19, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr7:107302171
GRCh38:
Chr7:107661726
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:107302171
GRCh38:
Chr7:107661726
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueduct, Pendred syndrome, Wolff-Parkinson-White pattern
Pathogenic/Likely pathogenic
(Feb 26, 2019)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:107302172
GRCh38:
Chr7:107661727
SLC26A4, SLC26A4-AS1Pendred syndromeUncertain significance
(Jun 1, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr7:107302173
GRCh38:
Chr7:107661728
SLC26A4, SLC26A4-AS1Pendred syndromeUncertain significance
(Nov 10, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr7:107302176
GRCh38:
Chr7:107661731
SLC26A4, SLC26A4-AS1not specifiedLikely benign
(Dec 22, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr7:107302195
GRCh38:
Chr7:107661750
SLC26A4, SLC26A4-AS1Enlarged vestibular aqueductPathogenic
(Feb 26, 2019)
no assertion criteria provided
40.
GRCh37:
Chr7:107302214
GRCh38:
Chr7:107661769
SLC26A4, SLC26A4-AS1Pendred syndrome, not specifiedUncertain significance
(Dec 29, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:107302228
GRCh38:
Chr7:107661783
SLC26A4, SLC26A4-AS1Pendred syndromeLikely pathogenic
(Sep 7, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr7:107302233
GRCh38:
Chr7:107661788
SLC26A4, SLC26A4-AS1not specified, not providedConflicting interpretations of pathogenicity
(Aug 3, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr7:107302235
GRCh38:
Chr7:107661790
SLC26A4, SLC26A4-AS1Pendred syndromeUncertain significance
(Feb 7, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr7:107302240
GRCh38:
Chr7:107661795
SLC26A4, SLC26A4-AS1DeafnessPathogenic
(Sep 10, 2018)
no assertion criteria provided
45.
GRCh37:
Chr7:107302251
GRCh38:
Chr7:107661806
SLC26A4Pendred syndromeLikely pathogenic
(Jun 19, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr7:107302252
GRCh38:
Chr7:107661807
SLC26A4Pendred syndromeLikely pathogenic
(Aug 22, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr7:107302252
GRCh38:
Chr7:107661807
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not provided
Pathogenic
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr7:107303728
GRCh38:
Chr7:107663283
SLC26A4Pendred syndromeUncertain significance
(Dec 19, 2017)
criteria provided, single submitter
49.
GRCh37:
Chr7:107303738
GRCh38:
Chr7:107663293
SLC26A4Pendred syndromeUncertain significance
(May 16, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr7:107303739
GRCh38:
Chr7:107663294
SLC26A4Pendred syndromeLikely pathogenic
(Apr 30, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr7:107303746
GRCh38:
Chr7:107663301
SLC26A4Enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(Jan 8, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr7:107303759
GRCh38:
Chr7:107663314
SLC26A4not specifiedLikely benign
(Sep 8, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr7:107303776
GRCh38:
Chr7:107663331
SLC26A4Pendred syndrome, not specifiedConflicting interpretations of pathogenicity
(Dec 28, 2017)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr7:107303785
GRCh38:
Chr7:107663340
SLC26A4not specifiedUncertain significance
(Apr 28, 2009)
criteria provided, single submitter
55.
GRCh37:
Chr7:107303801
GRCh38:
Chr7:107663356
SLC26A4Enlarged vestibular aqueduct, Pendred syndromeUncertain significance
(Apr 21, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr7:107303802
GRCh38:
Chr7:107663357
SLC26A4Enlarged vestibular aqueductPathogenic
(Jul 1, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr7:107303803
GRCh38:
Chr7:107663358
SLC26A4Pendred syndromeLikely pathogenic
(Mar 7, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr7:107303811
GRCh38:
Chr7:107663366
SLC26A4Enlarged vestibular aqueduct, Pendred syndromeConflicting interpretations of pathogenicity
(Feb 26, 2019)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr7:107303812
GRCh38:
Chr7:107663367
SLC26A4Pendred syndrome, not providedUncertain significance
(May 26, 2017)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr7:107303825
GRCh38:
Chr7:107663380
SLC26A4Pendred syndromePathogenic
(Mar 15, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr7:107303835
GRCh38:
Chr7:107663390
SLC26A4Pendred syndromeLikely pathogenic
(Jul 5, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr7:107303836
GRCh38:
Chr7:107663391
SLC26A4not specifiedUncertain significance
(Mar 1, 2008)
criteria provided, single submitter
63.
GRCh37:
Chr7:107303845
GRCh38:
Chr7:107663400
SLC26A4Pendred syndromeLikely pathogenic
(Jun 20, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr7:107303855
GRCh38:
Chr7:107663410
SLC26A4Pendred syndrome, not specifiedPathogenic/Likely pathogenic
(Feb 9, 2017)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr7:107303857
GRCh38:
Chr7:107663412
SLC26A4Enlarged vestibular aqueduct, Pendred syndromePathogenic
(Jun 10, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr7:107303859
GRCh38:
Chr7:107663414
SLC26A4not specifiedUncertain significance
(Jan 7, 2011)
criteria provided, single submitter
67.
GRCh37:
Chr7:107303870-107303874
GRCh38:
Chr7:107663425-107663429
SLC26A4Enlarged vestibular aqueduct, Pendred syndromePathogenic/Likely pathogenic
(Nov 4, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr7:107303872
GRCh38:
Chr7:107663427
SLC26A4Enlarged vestibular aqueductPathogenic
(Jan 3, 2017)
no assertion criteria provided
69.
GRCh37:
Chr7:107303873
GRCh38:
Chr7:107663428
SLC26A4not specifiedLikely benign
(Aug 30, 2012)
criteria provided, single submitter
70.
GRCh37:
Chr7:107303875
GRCh38:
Chr7:107663430
SLC26A4Hearing impairmentLikely pathogenic
(Mar 27, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr7:107303877
GRCh38:
Chr7:107663432
SLC26A4not providedPathogenic
(Aug 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr7:107303882
GRCh38:
Chr7:107663437
SLC26A4Pendred syndromeLikely pathogenic
(Jan 30, 2015)
criteria provided, single submitter
73.
GRCh37:
Chr7:107312595
GRCh38:
Chr7:107672150
SLC26A4DeafnessPathogenic
(Sep 10, 2018)
no assertion criteria provided
74.
GRCh37:
Chr7:107312600
GRCh38:
Chr7:107672155
SLC26A4not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
75.
GRCh37:
Chr7:107312606
GRCh38:
Chr7:107672161
SLC26A4Pendred syndromeUncertain significance
(Mar 26, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr7:107312626-107312627
GRCh38:
Chr7:107672182
SLC26A4Pendred syndromePathogenic
(May 10, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr7:107312627
GRCh38:
Chr7:107672182
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not provided
Likely pathogenic
(Sep 26, 2018)
reviewed by expert panel
FDA Recognized Database
78.
GRCh37:
Chr7:107312643
GRCh38:
Chr7:107672198
SLC26A4Pendred syndrome, not providedPathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
79.
GRCh37:
Chr7:107312649
GRCh38:
Chr7:107672204
SLC26A4Pendred syndrome, Nonsyndromic Hearing Loss, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr7:107312660-107312662
GRCh38:
Chr7:107672215-107672217
SLC26A4not providedPathogenic
(Sep 20, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr7:107312669
GRCh38:
Chr7:107672224
SLC26A4Pendred syndromeUncertain significance
(Jun 30, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr7:107312673
GRCh38:
Chr7:107672228
SLC26A4Pendred syndromeUncertain significance
(Jan 17, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr7:107312675-107312676
GRCh38:
Chr7:107672230-107672231
SLC26A4Enlarged vestibular aqueduct, Pendred syndromeLikely pathogenic
(Sep 19, 2008)
criteria provided, single submitter
84.
GRCh37:
Chr7:107312675
GRCh38:
Chr7:107672230
SLC26A4Pendred syndromeLikely pathogenic
(May 3, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr7:107312678
GRCh38:
Chr7:107672233
SLC26A4Pendred syndromeUncertain significance
(Oct 24, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr7:107312687
GRCh38:
Chr7:107672242
SLC26A4Pendred syndromeUncertain significance
(Mar 10, 2017)
criteria provided, single submitter
87.
GRCh37:
Chr7:107312690
GRCh38:
Chr7:107672245
SLC26A4Pendred syndromeLikely pathogenic
(Jan 10, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr7:107312690
GRCh38:
Chr7:107672245
SLC26A4Enlarged vestibular aqueduct, Pendred syndrome, not provided,
SLC26A4-Related Disorders
Pathogenic
(Sep 19, 2018)
reviewed by expert panel
FDA Recognized Database
89.
GRCh37:
Chr7:107312697
GRCh38:
Chr7:107672252
SLC26A4Pendred syndrome, not specifiedUncertain significance
(Mar 8, 2018)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr7:107312694-107312700
GRCh38:
Chr7:107672253-107672258
SLC26A4Pendred syndromeUncertain significance
(May 18, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr7:107314593
GRCh38:
Chr7:107674148
SLC26A4Pendred syndrome, not specified, not provided
Benign/Likely benign
(Feb 14, 2018)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr7:107314596
GRCh38:
Chr7:107674151
SLC26A4not specifiedBenign
(Apr 30, 2012)
criteria provided, single submitter
93.
GRCh37:
Chr7:107314602
GRCh38:
Chr7:107674157
SLC26A4not specifiedLikely benign
(Feb 8, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:107314608
GRCh38:
Chr7:107674163
SLC26A4Pendred syndrome, not providedPathogenic
(Nov 1, 2017)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr7:107314609
GRCh38:
Chr7:107674164
SLC26A4Pendred syndromeUncertain significance
(Jan 11, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr7:107314633
GRCh38:
Chr7:107674188
SLC26A4Pendred syndromeLikely pathogenic
(Feb 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr7:107314634
GRCh38:
Chr7:107674189
SLC26A4Pendred syndrome, not specifiedUncertain significance
(Nov 14, 2017)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr7:107314638
GRCh38:
Chr7:107674193
SLC26A4Pendred syndromeUncertain significance
(Feb 5, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr7:107314646-107314647
GRCh38:
Chr7:107674202
SLC26A4Pendred syndromeLikely pathogenic
(Jul 24, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr7:107314656
GRCh38:
Chr7:107674211
SLC26A4not specifiedUncertain significance
(Jan 21, 2016)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center