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Items: 40

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:160011186
GRCh38:
Chr1:160041396
KCNJ10not specifiedLikely benign
(Oct 30, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr1:160011231
GRCh38:
Chr1:160041441
KCNJ10SeSAME syndrome, not specifiedBenign
(Dec 13, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:160011262
GRCh38:
Chr1:160041472
KCNJ10SeSAME syndrome, not specifiedUncertain significance
(Feb 3, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:160011280
GRCh38:
Chr1:160041490
KCNJ10SeSAME syndrome, not specifiedUncertain significance
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:160011302
GRCh38:
Chr1:160041512
KCNJ10not specifiedUncertain significance
(Feb 11, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr1:160011317
GRCh38:
Chr1:160041527
KCNJ10not specifiedUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr1:160011325
GRCh38:
Chr1:160041535
KCNJ10not specifiedUncertain significance
(Dec 24, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr1:160011434
GRCh38:
Chr1:160041644
KCNJ10SeSAME syndrome, not providedPathogenic/Likely pathogenic
(Mar 21, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:160011511
GRCh38:
Chr1:160041721
KCNJ10not specifiedLikely benign
(May 1, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr1:160011512
GRCh38:
Chr1:160041722
KCNJ10SeSAME syndrome, not specifiedBenign/Likely benign
(Jan 25, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:160011588
GRCh38:
Chr1:160041798
KCNJ10Pendred's syndrome, SeSAME syndrome, not specified,
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome, Nonsyndromic Hearing Loss, Mixed
Conflicting interpretations of pathogenicity
(Mar 7, 2017)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr1:160011618
GRCh38:
Chr1:160041828
KCNJ10not specifiedLikely benign
(Jan 29, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:160011635
GRCh38:
Chr1:160041845
KCNJ10not specifiedUncertain significance
(Sep 15, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:160011638
GRCh38:
Chr1:160041848
KCNJ10not specifiedUncertain significance
(Oct 15, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr1:160011671
GRCh38:
Chr1:160041881
KCNJ10not specifiedUncertain significance
(Sep 19, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:160011708
GRCh38:
Chr1:160041918
KCNJ10Pendred's syndrome, not specified, Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome,
Nonsyndromic Hearing Loss, Mixed
Conflicting interpretations of pathogenicity
(Dec 18, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr1:160011784
GRCh38:
Chr1:160041994
KCNJ10not specifiedUncertain significance
(May 22, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr1:160011795
GRCh38:
Chr1:160042005
KCNJ10not specifiedLikely benign
(Feb 23, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:160011822
GRCh38:
Chr1:160042032
KCNJ10not specifiedLikely benign
(Apr 13, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:160011896
GRCh38:
Chr1:160042106
KCNJ10not specifiedUncertain significance
(Sep 19, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr1:160011922
GRCh38:
Chr1:160042132
KCNJ10not specifiedUncertain significance
(Dec 30, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:160012022
GRCh38:
Chr1:160042232
KCNJ10not specifiedUncertain significance
(May 27, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:160012073
GRCh38:
Chr1:160042283
KCNJ10not specifiedUncertain significance
(Jul 1, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr1:160012089
GRCh38:
Chr1:160042299
KCNJ10not specifiedBenign
(Jul 11, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr1:160012102
GRCh38:
Chr1:160042312
KCNJ10not providedLikely pathogenic
(Apr 15, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr1:160012104
GRCh38:
Chr1:160042314
KCNJ10not specifiedBenign/Likely benign
(Dec 8, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:160012144
GRCh38:
Chr1:160042354
KCNJ10not specifiedUncertain significance
(Jan 16, 2015)
criteria provided, single submitter
28.
GRCh37:
Chr1:160012175
GRCh38:
Chr1:160042385
KCNJ10not specifiedUncertain significance
(Dec 23, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:160012176
GRCh38:
Chr1:160042386
KCNJ10not specifiedLikely benign
(Sep 8, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr1:160012187
GRCh38:
Chr1:160042397
KCNJ10SeSAME syndrome, not specifiedConflicting interpretations of pathogenicity
(Dec 7, 2016)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr1:160012211
GRCh38:
Chr1:160042421
KCNJ10not specifiedUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr1:160012270
GRCh38:
Chr1:160042480
KCNJ10SeSAME syndrome, not specifiedBenign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:160012271
GRCh38:
Chr1:160042481
KCNJ10SeSAME syndrome, not specifiedUncertain significance
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:160012284
GRCh38:
Chr1:160042494
KCNJ10not specifiedLikely benign
(May 2, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:160012302
GRCh38:
Chr1:160042512
KCNJ10not specifiedLikely benign
(Sep 28, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:160012342
GRCh38:
Chr1:160042552
KCNJ10not specifiedLikely benign
(Dec 6, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:160039811
GRCh38:
Chr1:160070021
KCNJ9, KCNJ10not specifiedUncertain significance
(Dec 30, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr1:160039811
GRCh38:
Chr1:160070021
KCNJ9, KCNJ10not providedLikely pathogenic
(Dec 30, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:160039854
GRCh38:
Chr1:160070064
KCNJ9, KCNJ10Pendred's syndrome, not specified, Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome,
Nonsyndromic Hearing Loss, Mixed
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr1:157717036-175990383
GRCh38:
Chr1:157747246-176021247
ALDH9A1, APCS, APOA2, FASLG, SERPINC1, ATP1A2, ATP1A4, ATP1B1, CASQ1, CD1A, CD1B, CD1C, CD1D, CD1E, CD247, CD5L, CD48, COPA, CRP, DPT, F5, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FMO1, FMO2, FMO3, FMO4, ACKR1, HSPA6, HSPA7, IFI16, KCNJ9, KCNJ10, LMX1A, LY9, MGST3, MNDA, MPZ, MYOC, NDUFS2, NHLH1, NIT1, DDR2, PBX1, PFDN2, PIGC, PRRX1, POU2F1, PPOX, PEX19, RGS4, RXRG, XCL1, SDHC, SELE, SELL, SELP, SLAMF1, UAP1, SPTA1, XCL2, TNR, TNFSF4, UCK2, USF1, TAGLN2, RGS5, BLZF1, VAMP4, PEA15, B4GALT3, CREG1, CD84, TNFSF18, MPZL1, TBX19, FCGR2C, DEDD, GPR52, AIM2, ADAMTS4, PRDX6, KIAA0040, NOS1AP, RABGAP1L, NR1I3, GPA33, SLC19A2, DUSP12, KIFAP3, ATF6, PRRC2C, NCSTN, GPR161, CFAP45, MPC2, OLFML2B, DNM3, OR10J1, SNORD81, SNORD79, SNORD80, SNORD47, SNORD44, USP21, CACYBP, KLHL20, NME7, DCAF8, F11R, SUCO, HSD17B7, UFC1, METTL13, CD244, TMCO1, DUSP23, DARS2, KIRREL1, ITLN1, C1orf112, ADCY10, DCAF6, SLAMF8, SCYL3, VANGL2, IGSF9, POGK, CCDC181, SLAMF7, CADM3, GAS5, TNN, MRPS14, RFWD2, LINC00626, FCRL2, MROH9, OR6N2, OR6K2, NECTIN4, NUF2, TOMM40L, ZBTB37, FCRLA, MAEL, SLAMF9, CENPL, DUSP27, RCSD1, METTL18, GORAB, C1orf105, PIGM, IGSF8, SLAMF6, FCRL1, TADA1, SH2D1B, KLHDC9, OR10J5, UHMK1, FCRLB, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, ITLN2, RC3H1, METTL11B, FAM78B, PYHIN1, ARHGAP30, CFAP126, TIPRL, SLC9C2, SNHG28, SPATA46, LINC01142, ANKRD45, CCDC190, OR10R2, FCRL6, SFT2D2, ILDR2, OR10K2, OR10K1, OR6Y1, OR6K3, OR10J4, VSIG8, C1orf226, LOC400794, MIR199A2, MIR214, LRRC52, OR10J3, SNORD74, LINC01704, PCP4L1, SCARNA3, SNORD75, SNORD76, SNORD77, SNORD78, MIR556, MIR557, LOC729867, TEX50, MIR921, TSTD1, CADM3-AS1, LOC100147773, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-2, TRG-TCC2-6, TRE-CTC1-5, TRL-CAG1-6, TRP-AGG2-1, TRG-TCC2-5, TRE-CTC1-2, TRD-GTC2-5, TRN-GTT1-1, TRD-GTC2-4, TRL-CAG1-5, TRG-TCC2-3, TRG-GCC1-4, TRR-TCT4-1, TRG-TCC2-4, TRP-CGG1-1, TRG-GCC1-3, TRD-GTC2-2, TRG-GCC1-2, TRE-CTC1-4, TRG-TCC2-2, TRG-GCC4-1, TRD-GTC2-3, TRL-CAG1-3, TRL-CAG1-4, TRG-GCC1-1, TRV-CAC1-1, TRG-GCC2-1, TRE-CTC1-3, TRL-CAG1-1, TRN-GTT2-2, TRE-TTC4-2, TRD-GTC2-1, LOC100287049, MIR1295A, MIR1255B2, MIR3119-1, MIR4259, MIR3120, MIR3119-2, MIR3658, LINC01133, KIRREL1-IT1, LOC100505795, LOC100505918, LOC100506023, GAS5-AS1, MIR4654, DNM3OS, MIR1295B, MIR5187, DNM3-IT1, LOC101928372, LOC101928404, LINC01363, LOC101928565, LOC101928596, LOC101928650, LOC101928673, LOC101928696, LINC01657, LINC00970, LOC102724601, LOC105371458, LINC01675, LINC01681, SNORA103, POP3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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