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Items: 1 to 100 of 132

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
MFN2Charcot-Marie-Tooth disease, type 2Pathogenic
(Jun 6, 2015)
criteria provided, single submitter
2.
MFN2Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessivePathogenic
(Jul 12, 2011)
no assertion criteria provided
3.
MFN2Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessivePathogenic
(Jul 12, 2011)
no assertion criteria provided
4.
GRCh37:
Chr1:909238-16736132
RERE, CA6, CASP9, TNFRSF8, CDK11B, CLCN6, CLCNKA, CLCNKB, CORT, DFFA, DFFB, DVL1, MEGF6, EPHA2, ENO1, MTOR, GABRD, GNB1, ZBTB48, TNFRSF9, MTHFR, NPPA, NPPB, PEX10, PEX14, PGD, PIK3CD, PLOD1, EXOSC10, PRKCZ, RPL22, RSC1A1, SCNN1D, SKI, SLC2A5, SRM, TNFRSF1B, TP73, TNFRSF4, ZBTB17, PRDM2, MMP23B, MMP23A, KCNAB2, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CEP104, KLHL21, SLC35E2, MFN2, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, RER1, PARK7, CTRC, ACOT7, CLSTN1, SPEN, KIF1B, PLEKHM2, KAZN, CAMTA1, DNAJC16, TARDBP, ICMT, CHD5, SZRD1, FBXO2, FBXO6, HSPB7, ARHGEF16, SSU72, UBIAD1, WRAP73, SLC45A1, CELA2B, SDF4, ERRFI1, FBXO42, MXRA8, HES2, FBLIM1, CASZ1, CPSF3L, C1orf159, AURKAIP1, MRPL20, TMEM51, VPS13D, ATAD3A, PANK4, DNAJC11, AJAP1, CTNNBIP1, AGTRAP, PLEKHG5, LRRC47, DISP3, HES4, MIIP, CELA2A, PRDM16, NMNAT1, VWA1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, RSG1, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, TAS1R1, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, SLC25A33, DDI2, LZIC, CFAP74, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, TPRG1L, FAM213B, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, C1orf64, SLC2A7, CALML6, TMEM201, FAAP20, ATAD3C, TTLL10, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, DRAXIN, SPATA21, AGRN, APITD1, GPR153, FAM132A, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PRAMEF4, PRAMEF13, RNF223, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, ANKRD65, PRAMEF7, MIR429, TMEM88B, C1orf233, PRAMEF19, PRAMEF20, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, TTC34, ENO1-AS1, APITD1-CORT
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
5.
GRCh37:
Chr1:909238-24706269
ALPL, RERE, C1QA, C1QB, C1QC, CA6, CAPZB, CASP9, TNFRSF8, CDA, CDK11B, CDC42, CLCN6, CLCNKA, CLCNKB, CNR2, CORT, DDOST, DFFA, DFFB, DVL1, E2F2, ECE1, MEGF6, EPHA2, ENO1, EPHA8, EPHB2, MTOR, FUCA1, GABRD, GALE, GNB1, ZBTB48, HMGCL, HSPG2, HTR1D, HTR6, ID3, TNFRSF9, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX10, PEX14, PGD, PIK3CD, PLA2G2A, PLA2G5, PLOD1, EXOSC10, PRKCZ, RAP1GAP, RNU1-4, RPL11, RPL22, RSC1A1, SCNN1D, SDHB, SKI, SLC2A5, SRM, TCEA3, TCEB3, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, TNFRSF4, ZBTB17, LUZP1, PRDM2, MMP23B, MMP23A, KCNAB2, AKR7A2, ALDH4A1, EIF4G3, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CROCC, CEP104, KLHL21, SLC35E2, ZBTB40, MFN2, CELA3A, ANGPTL7, HNRNPR, UBE4B, MAD2L2, PDPN, MASP2, SRSF10, UTS2, RER1, MST1L, PADI2, LYPLA2, PARK7, CTRC, ACOT7, CLSTN1, AKR7A3, SPEN, KDM1A, EMC1, KIF1B, PLEKHM2, OTUD3, KAZN, CAMTA1, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, PLA2G2D, HSPB7, ARHGEF16, SSU72, UBIAD1, PADI1, PLA2G2E, WRAP73, SLC45A1, HP1BP3, CELA2B, SDF4, MRTO4, PADI3, ERRFI1, WNT4, FBXO42, RNF186, MXRA8, HES2, FBLIM1, PQLC2, CASZ1, CPSF3L, C1orf159, AURKAIP1, MRPL20, TMEM51, ARHGEF10L, VPS13D, ATAD3A, PANK4, CAMK2N1, ASAP3, PNRC2, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, PITHD1, PLEKHG5, LRRC47, DISP3, KIF17, HES4, GRHL3, IL22RA1, MIIP, CELA2A, PRDM16, PLA2G2F, NMNAT1, VWA1, PINK1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, RSG1, MUL1, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, ZNF436, TAS1R2, TAS1R1, ACTL8, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, USP48, NBPF3, SLC25A33, DDI2, LZIC, IGSF21, CFAP74, KIAA2013, THAP3, STPG1, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, IFFO2, TPRG1L, FAM213B, MYOM3, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, C1orf64, SLC2A7, CALML6, IFNLR1, FAM43B, TMEM201, FAAP20, ATAD3C, AKR7L, TTLL10, TMCO4, MDS2, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, AGRN, APITD1, GPR153, FAM132A, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, RNF223, LDLRAD2, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, ANKRD65, PRAMEF7, MIR429, TMEM88B, C1orf233, PRAMEF19, PRAMEF20, LACTBL1, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, C1orf234, LOC100132147, TRQ-CTG14-1, TTC34, ENO1-AS1, APITD1-CORT, MINOS1-NBL1
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
6.
GRCh37:
Chr1:12040545
GRCh38:
Chr1:11980488
MFN2not specifiedUncertain significance
(Aug 28, 2015)
no assertion criteria provided
7.
GRCh37:
Chr1:12042012
GRCh38:
Chr1:11981955
MFN2not specifiedGMAF:0.02860(G)Benign
(Dec 11, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr1:12049283
GRCh38:
Chr1:11989226
MFN2not specifiedBenign
(Aug 31, 2015)
no assertion criteria provided
9.
GRCh37:
Chr1:12049375
GRCh38:
Chr1:11989318
MFN2not specifiedGMAF:0.00940(A)Benign
(May 27, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr1:12049384
GRCh38:
Chr1:11989327
MFN2not specifiedGMAF:0.02940(T)Benign
(Aug 12, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr1:12049385
GRCh38:
Chr1:11989328
MFN2not specifiedUncertain significance
(Jul 21, 2015)
no assertion criteria provided
12.
GRCh37:
Chr1:12049390
GRCh38:
Chr1:11989333
MFN2not specifiedGMAF:0.01240(T)Benign
(May 16, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr1:12052615
GRCh38:
Chr1:11992558
MFN2not specifiedGMAF:0.00040(T)Uncertain significance
(Mar 28, 2016)
no assertion criteria provided
14.
GRCh37:
Chr1:12052641
GRCh38:
Chr1:11992584
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(May 11, 2004)
no assertion criteria provided
15.
GRCh37:
Chr1:12052663
GRCh38:
Chr1:11992606
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedPathogenic
(Mar 3, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:12052716
GRCh38:
Chr1:11992659
MFN2Charcot-Marie-Tooth disease, type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, type 2,
not provided
Pathogenic
(May 9, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:12052717
GRCh38:
Chr1:11992660
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Apr 17, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr1:12052746
GRCh38:
Chr1:11992689
MFN2Charcot-Marie-Tooth disease, type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease,
not provided
Pathogenic
(Feb 10, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:12052747
GRCh38:
Chr1:11992690
MFN2not providedPathogenic
(Oct 16, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr1:12056215
GRCh38:
Chr1:11996158
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedPathogenic
(Nov 11, 2014)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:12056309
GRCh38:
Chr1:11996252
MFN2not specifiedGMAF:0.01240(T)Benign
(May 16, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr1:12056337
GRCh38:
Chr1:11996280
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedLikely pathogenic
(May 20, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:12057358
GRCh38:
Chr1:11997301
MFN2Charcot-Marie-Tooth disease, type 2A2Likely pathogenic
(Aug 18, 2015)
criteria provided, single submitter
24.
GRCh37:
Chr1:12057372
GRCh38:
Chr1:11997315
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Aug 9, 2005)
no assertion criteria provided
25.
GRCh37:
Chr1:12057373
GRCh38:
Chr1:11997316
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedPathogenic
(May 20, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:12057405
GRCh38:
Chr1:11997348
MFN2Charcot-Marie-Tooth disease, type 2A2Likely pathogenic
(Aug 18, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr1:12057420
GRCh38:
Chr1:11997363
MFN2not providedLikely pathogenic
(Dec 9, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr1:12057451
GRCh38:
Chr1:11997394
MFN2not specifiedUncertain significance
(Mar 25, 2016)
no assertion criteria provided
29.
GRCh37:
Chr1:12058844
GRCh38:
Chr1:11998787
MFN2Hereditary motor and sensory neuropathy with optic atrophyPathogenic
(Feb 1, 2006)
no assertion criteria provided
30.
GRCh37:
Chr1:12058874
GRCh38:
Chr1:11998817
MFN2Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessive, not providedPathogenic
(May 18, 2015)
no assertion criteria provided
31.
GRCh37:
Chr1:12058880
GRCh38:
Chr1:11998823
MFN2not specifiedUncertain significance
(Feb 25, 2016)
no assertion criteria provided
32.
GRCh37:
Chr1:12058884
GRCh38:
Chr1:11998827
MFN2Charcot-Marie-Tooth disease, type 2Uncertain significance
(Feb 19, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:12058886
GRCh38:
Chr1:11998829
MFN2not providedLikely pathogenic
(Sep 28, 2015)
no assertion criteria provided
34.
GRCh37:
Chr1:12058930
GRCh38:
Chr1:11998873
MFN2not specifiedUncertain significance
(Feb 2, 2016)
no assertion criteria provided
35.
GRCh37:
Chr1:12058934
GRCh38:
Chr1:11998877
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Jan 29, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr1:12058946-12058948
GRCh38:
Chr1:11998889-11998891
MFN2Charcot-Marie-Tooth disease, type 2Uncertain significance
(Jun 6, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr1:12059056
GRCh38:
Chr1:11998999
MFN2Charcot-Marie-Tooth disease, type 2Likely pathogenic
(Sep 21, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr1:12059057
GRCh38:
Chr1:11999000
MFN2not specifiedUncertain significance
(Apr 30, 2015)
no assertion criteria provided
39.
GRCh37:
Chr1:12059059
GRCh38:
Chr1:11999002
MFN2Charcot-Marie-Tooth disease, type 2Likely benign
(Sep 30, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr1:12059061
GRCh38:
Chr1:11999004
MFN2not providedLikely pathogenic
(Mar 11, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr1:12059066
GRCh38:
Chr1:11999009
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Aug 18, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr1:12059066
GRCh38:
Chr1:11999009
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Sep 17, 2015)
criteria provided, single submitter
43.
GRCh37:
Chr1:12059080
GRCh38:
Chr1:11999023
MFN2Charcot-Marie-Tooth disease, type 2, not specifiedGMAF:0.00960(T)Benign
(Dec 22, 2015)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:12059082
GRCh38:
Chr1:11999025
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Sep 17, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr1:12059085
GRCh38:
Chr1:11999028
MFN2not specifiedUncertain significance
(Feb 2, 2016)
no assertion criteria provided
46.
GRCh37:
Chr1:12059087
GRCh38:
Chr1:11999030
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(May 1, 2004)
no assertion criteria provided
47.
GRCh37:
Chr1:12059092
GRCh38:
Chr1:11999035
MFN2Charcot-Marie-Tooth disease, type 2, not specified, not provided
Conflicting interpretations of pathogenicity
(Mar 15, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr1:12059111
GRCh38:
Chr1:11999054
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedPathogenic
(Jan 22, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr1:12059145
GRCh38:
Chr1:11999088
MFN2not specifiedUncertain significance
(Mar 25, 2016)
no assertion criteria provided
50.
GRCh37:
Chr1:12061468
GRCh38:
Chr1:12001411
MFN2Hereditary motor and sensory neuropathy with optic atrophyPathogenic
(Feb 1, 2006)
no assertion criteria provided
51.
GRCh37:
Chr1:12061479
GRCh38:
Chr1:12001422
MFN2not providedLikely pathogenic
(Mar 16, 2016)
no assertion criteria provided
52.
GRCh37:
Chr1:12061480
GRCh38:
Chr1:12001423
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedPathogenic
(Jan 21, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:12061483
GRCh38:
Chr1:12001426
MFN2not providedGMAF:0.00020(C)Likely pathogenic
(Jul 18, 2014)
criteria provided, single submitter
54.
GRCh37:
Chr1:12061533
GRCh38:
Chr1:12001476
MFN2Charcot-Marie-Tooth disease, type 2, not specifiedGMAF:0.00100(A)Conflicting interpretations of pathogenicity
(Sep 11, 2015)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr1:12061539
GRCh38:
Chr1:12001482
MFN2not providedLikely pathogenic
(May 2, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr1:12061598
GRCh38:
Chr1:12001541
MFN2Charcot-Marie-Tooth disease, type 2, not specifiedGMAF:0.00440(T)Benign
(Dec 28, 2015)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:12061630
GRCh38:
Chr1:12001573
MFN2not specifiedGMAF:0.00700(A)Benign
(Jun 16, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr1:12061830
GRCh38:
Chr1:12001773
MFN2not specifiedGMAF:0.00240(T)Benign
(Sep 3, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr1:12062020
GRCh38:
Chr1:12001963
MFN2not specifiedGMAF:0.05190(A)Benign
(Feb 4, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr1:12062071
GRCh38:
Chr1:12002014
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Jan 1, 2005)
no assertion criteria provided
61.
GRCh37:
Chr1:12062084
GRCh38:
Chr1:12002027
MFN2not specifiedUncertain significance
(Jan 13, 2016)
no assertion criteria provided
62.
GRCh37:
Chr1:12062085
GRCh38:
Chr1:12002028
MFN2Charcot-Marie-Tooth disease, type 2A2, Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessivePathogenic
(Jul 12, 2011)
no assertion criteria provided
63.
GRCh37:
Chr1:12062090
GRCh38:
Chr1:12002033
MFN2Charcot-Marie-Tooth disease, type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, type 2,
not provided
Pathogenic
(Sep 13, 2015)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:12062091
GRCh38:
Chr1:12002034
MFN2not providedPathogenic
(Sep 28, 2015)
no assertion criteria provided
65.
GRCh37:
Chr1:12062108
GRCh38:
Chr1:12002051
MFN2not specifiedUncertain significance
(Sep 17, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr1:12062126
GRCh38:
Chr1:12002069
MFN2Charcot-Marie-Tooth disease, type 2A2Likely pathogenic
(May 28, 2015)
criteria provided, single submitter
67.
GRCh37:
Chr1:12062148
GRCh38:
Chr1:12002091
MFN2not providedUncertain significance
(Nov 11, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr1:12062150
GRCh38:
Chr1:12002093
MFN2not specifiedUncertain significance
(Aug 26, 2015)
no assertion criteria provided
69.
GRCh37:
Chr1:12064053
GRCh38:
Chr1:12003996
MFN2not specifiedUncertain significance
(Aug 26, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr1:12064062
GRCh38:
Chr1:12004005
MFN2not specifiedUncertain significance
(Feb 17, 2016)
no assertion criteria provided
71.
GRCh37:
Chr1:12064067
GRCh38:
Chr1:12004010
MFN2not specified, not providedGMAF:0.00140(A)Conflicting interpretations of pathogenicity
(Jun 5, 2015)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr1:12064086
GRCh38:
Chr1:12004029
MFN2not providedPathogenic
(May 18, 2015)
no assertion criteria provided
73.
GRCh37:
Chr1:12064156
GRCh38:
Chr1:12004099
MFN2Charcot-Marie-Tooth disease, type 2Uncertain significance
(Nov 2, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr1:12064617
GRCh38:
Chr1:12004560
MFN2not specifiedUncertain significance
(Mar 28, 2016)
no assertion criteria provided
75.
GRCh37:
Chr1:12064672
GRCh38:
Chr1:12004615
MFN2Charcot-Marie-Tooth disease, type 2A2Pathogenic
(Jun 8, 2010)
no assertion criteria provided
76.
GRCh37:
Chr1:12064892
GRCh38:
Chr1:12004835
MFN2Charcot-Marie-Tooth disease, type 2A2, Charcot-Marie-Tooth disease, type 2, not specified
GO-ESP:0.00192(A)
GMAF:0.00200(A)
Conflicting interpretations of pathogenicity
(Jan 17, 2016)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr1:12064931
GRCh38:
Chr1:12004874
MFN2not specifiedUncertain significance
(Jun 9, 2015)
no assertion criteria provided
78.
GRCh37:
Chr1:12064941
GRCh38:
Chr1:12004884
MFN2Charcot-Marie-Tooth disease, type 2, not specified, not provided
GMAF:0.00060(A)Conflicting interpretations of pathogenicity
(Nov 5, 2015)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr1:12064993
GRCh38:
Chr1:12004936
MFN2Charcot-Marie-Tooth disease, type 2Benign
(Mar 31, 2015)
criteria provided, single submitter
80.
GRCh37:
Chr1:12065841
GRCh38:
Chr1:12005784
MFN2not specifiedGMAF:0.06910(T)Benign
(Oct 24, 2013)
criteria provided, single submitter
81.
GRCh37:
Chr1:12065846
GRCh38:
Chr1:12005789
MFN2not specifiedGMAF:0.00020(G)Likely benign
(Apr 18, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr1:12065913
GRCh38:
Chr1:12005856
MFN2Charcot-Marie-Tooth disease, type 2, not specifiedBenign
(Dec 28, 2015)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:12065914
GRCh38:
Chr1:12005857
MFN2not specifiedGMAF:0.00020(C)Uncertain significance
(Mar 12, 2014)
criteria provided, single submitter
84.
GRCh37:
Chr1:12065971
GRCh38:
Chr1:12005914
MFN2not specifiedUncertain significance
(Oct 3, 2013)
criteria provided, single submitter
85.
GRCh37:
Chr1:12066601
GRCh38:
Chr1:12006544
MFN2Charcot-Marie-Tooth disease, type 2Uncertain significance
(Dec 28, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr1:12066607
GRCh38:
Chr1:12006550
MFN2not specifiedUncertain significance
(Jun 21, 2016)
no assertion criteria provided
87.
GRCh37:
Chr1:12066684
GRCh38:
Chr1:12006627
MFN2not specifiedGMAF:0.00340(T)Benign
(Sep 16, 2014)
criteria provided, single submitter
88.
GRCh37:
Chr1:12066705
GRCh38:
Chr1:12006648
MFN2Charcot-Marie-Tooth disease, type 2, not specifiedBenign
(Dec 19, 2015)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:12067131
GRCh38:
Chr1:12007074
MFN2not specifiedUncertain significance
(Sep 4, 2015)
no assertion criteria provided
90.
GRCh37:
Chr1:12067141
GRCh38:
Chr1:12007084
MFN2not specifiedUncertain significance
(Oct 30, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr1:12067157
GRCh38:
Chr1:12007100
MFN2Charcot-Marie-Tooth disease, type 2GMAF:0.00120(G)Likely benign
(Jan 23, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr1:12067183
GRCh38:
Chr1:12007126
MFN2Charcot-Marie-Tooth disease, type 2A2Likely pathogenic
(Aug 18, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr1:12067183
GRCh38:
Chr1:12007126
MFN2Charcot-Marie-Tooth disease, type 2Uncertain significance
(Dec 23, 2015)
criteria provided, single submitter
94.
GRCh37:
Chr1:12067188
GRCh38:
Chr1:12007131
MFN2not specifiedUncertain significance
(Jan 6, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr1:12067213
GRCh38:
Chr1:12007156
MFN2not specifiedLikely benign
(Mar 20, 2014)
criteria provided, single submitter
96.
GRCh37:
Chr1:12067224
GRCh38:
Chr1:12007167
MFN2not providedLikely pathogenic
(Apr 2, 2015)
no assertion criteria provided
97.
GRCh37:
Chr1:12067297
GRCh38:
Chr1:12007240
MFN2not specifiedUncertain significance
(Apr 2, 2015)
no assertion criteria provided
98.
GRCh37:
Chr1:12069687
GRCh38:
Chr1:12009630
MFN2not specifiedUncertain significance
(Jun 4, 2015)
no assertion criteria provided
99.
GRCh37:
Chr1:12069692
GRCh38:
Chr1:12009635
MFN2Charcot-Marie-Tooth disease, type 2, not specifiedGMAF:0.00160(A)Benign
(Jan 23, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:12069698
GRCh38:
Chr1:12009641
MFN2Charcot-Marie-Tooth disease, type 2A2, not providedGO-ESP:0.00038(T)
GMAF:0.00020(T)
Pathogenic/Likely pathogenic
(Apr 27, 2016)
no assertion criteria provided
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