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Items: 29

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:161275682
GRCh38:
Chr1:161305892
MPZnot specifiedGO-ESP:0.00003(A)Uncertain significance
(Jan 7, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr1:161275729
GRCh38:
Chr1:161305939
MPZRoussy-Lévy syndrome, Congenital hypomyelinating neuropathy, Charcot-Marie-Tooth disease, type I,
not specified, Charcot-Marie-Tooth, Type 1, Charcot-Marie-Tooth, Intermediate
GO-ESP:0.02122(A)
GMAF:0.00960(A)
GO-ESP:0.01957(A)
Benign/Likely benign
(Jan 17, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:161275770
GRCh38:
Chr1:161305980
MPZnot specifiedUncertain significance
(Nov 28, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:161275886
GRCh38:
Chr1:161306096
MPZnot specifiedLikely benign
(Nov 11, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:161275906
GRCh38:
Chr1:161306116
MPZRoussy-Lévy syndrome, Congenital hypomyelinating neuropathy, not specified,
Charcot-Marie-Tooth, Type 1, Charcot-Marie-Tooth, Intermediate
GMAF:0.00020(T)
GO-ESP:0.00009(G)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr1:161275943
GRCh38:
Chr1:161306153
MPZRoussy-Lévy syndrome, Congenital hypomyelinating neuropathy, Charcot-Marie-Tooth disease, type I,
not specified, Charcot-Marie-Tooth, Type 1, Charcot-Marie-Tooth, Intermediate
GMAF:0.07110(T)
GO-ESP:0.04299(T)
Benign
(Jan 22, 2017)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:161275948
GRCh38:
Chr1:161306158
MPZnot specifiedUncertain significance
(Dec 3, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr1:161276117
GRCh38:
Chr1:161306327
MPZnot providedPathogenic
(Nov 19, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr1:161276216
GRCh38:
Chr1:161306426
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, Charcot-Marie-Tooth disease, type I, not provided
Pathogenic/Likely pathogenic
(Dec 8, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:161276239
GRCh38:
Chr1:161306449
MPZnot specifiedUncertain significance
(Sep 29, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:161276512
GRCh38:
Chr1:161306722
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, Charcot-Marie-Tooth disease, type I, not provided
Pathogenic
(Nov 27, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:161276522
GRCh38:
Chr1:161306732
MPZnot providedLikely pathogenic
(Feb 26, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:161276542
GRCh38:
Chr1:161306752
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, not providedPathogenic
(Jan 6, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr1:161276590
GRCh38:
Chr1:161306800
MPZnot providedLikely pathogenic
(Oct 21, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr1:161276633
GRCh38:
Chr1:161306843
MPZCharcot-Marie-Tooth disease type 2J, not providedPathogenic/Likely pathogenic
(Jan 18, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:161276653
GRCh38:
Chr1:161306863
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, Charcot-Marie-Tooth disease, type I, not provided,
Decreased nerve conduction velocity, Sensory neuropathy, Pes cavus,
Distal muscle weakness, Distal lower limb amyotrophy
Pathogenic/Likely pathogenic
(Jun 23, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:161276654
GRCh38:
Chr1:161306864
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, not providedPathogenic
(Apr 7, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:161276718
GRCh38:
Chr1:161306928
MPZnot specifiedLikely benign
(Jun 28, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:161277049
GRCh38:
Chr1:161307259
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths, not provided
Pathogenic
(Jul 26, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:161277092-161277094
GRCh38:
Chr1:161307302-161307304
MPZnot providedPathogenic
(May 5, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:161277094
GRCh38:
Chr1:161307304
MPZDejerine-Sottas syndrome, autosomal dominant, not providedPathogenic
(Nov 3, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr1:161277100
GRCh38:
Chr1:161307310
MPZCharcot-Marie-Tooth disease, type I, not providedLikely pathogenic
(Oct 2, 2015)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr1:161277106
GRCh38:
Chr1:161307316
MPZnot providedLikely pathogenic
(Apr 6, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr1:161277133
GRCh38:
Chr1:161307343
MPZnot providedPathogenic
(Mar 15, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr1:161277146-161277153
GRCh38:
Chr1:161307356-161307363
MPZnot providedGO-ESP:0.00002(-)Pathogenic
(Jan 9, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr1:161277149
GRCh38:
Chr1:161307359
MPZnot specifiedGMAF:0.00060(A)
GO-ESP:0.00016(A)
Uncertain significance
(Nov 10, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr1:161277166
GRCh38:
Chr1:161307376
MPZCharcot-Marie-Tooth disease, demyelinating, type 1b, Charcot-Marie-Tooth disease, type I, not provided
Pathogenic
(Mar 2, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:161277215
GRCh38:
Chr1:161307425
MPZnot providedPathogenic
(Dec 30, 2015)
criteria provided, single submitter
29.
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, KIRREL, 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, C1orf204, 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, LOC730159, 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, MIR1295A, MIR1255B2, MIR3119-1, MIR4259, MIR3120, MIR3119-2, MIR3658, LINC01133, KIRREL-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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