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Items: 26

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:32030633
GRCh38:
Chr14:31561427
NUBPLMitochondrial complex I deficiency, not specifiedGO-ESP:0.00028(G)Conflicting interpretations of pathogenicity
(Sep 29, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr14:32030639
GRCh38:
Chr14:31561433
NUBPLMitochondrial complex I deficiency, not specifiedGMAF:0.00100(T)
GO-ESP:0.00083(T)
Conflicting interpretations of pathogenicity
(Nov 17, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr14:32030645
GRCh38:
Chr14:31561439
NUBPLMitochondrial complex I deficiency, not specifiedGMAF:0.00320(T)
GO-ESP:0.01198(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr14:32030722
GRCh38:
Chr14:31561516
NUBPLMitochondrial complex I deficiency, not specifiedGMAF:0.00420(T)
GO-ESP:0.00151(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr14:32031305
GRCh38:
Chr14:31562099
NUBPLnot specifiedGO-ESP:0.00008(G)Uncertain significance
(Aug 1, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr14:32031310
GRCh38:
Chr14:31562104
NUBPLnot specifiedGO-ESP:0.00004(G)Uncertain significance
(Oct 18, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr14:32031327
GRCh38:
Chr14:31562121
NUBPLMitochondrial complex I deficiency, not specifiedGMAF:0.00560(T)
GO-ESP:0.00223(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr14:32031331
GRCh38:
Chr14:31562125
NUBPLnot specifiedGO-ESP:0.00034(A)
GO-ESP:0.00016(A)
Uncertain significance
(Jul 1, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr14:32031332
GRCh38:
Chr14:31562126
NUBPLnot specifiedLikely benign
(Oct 30, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr14:32031366-32031367
GRCh38:
Chr14:31562160-31562161
NUBPLnot providedGO-ESP:0.00001(G)Pathogenic
(Feb 7, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr14:32031435
GRCh38:
Chr14:31562229
NUBPLnot specifiedGMAF:0.00060(C)
GO-ESP:0.00145(C)
Benign
(Oct 1, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr14:32034253
GRCh38:
Chr14:31565047
NUBPLnot specifiedGO-ESP:0.00006(T)Uncertain significance
(Oct 7, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr14:32068579
GRCh38:
Chr14:31599373
NUBPLnot specifiedUncertain significance
(Jun 23, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr14:32142541-32142542
GRCh38:
Chr14:31673335-31673336
NUBPLnot specifiedBenign
(Oct 21, 2013)
criteria provided, single submitter
15.
GRCh37:
Chr14:32142608
GRCh38:
Chr14:31673402
NUBPLnot specifiedLikely benign
(Jul 29, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr14:32142613
GRCh38:
Chr14:31673407
NUBPLnot specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr14:32142693
GRCh38:
Chr14:31673487
NUBPLnot providedLikely pathogenic
(Jun 27, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr14:32257017
GRCh38:
Chr14:31787811
NUBPLMitochondrial complex I deficiency, not specified, not provided
GMAF:0.00040(C)
GO-ESP:0.00289(C)
Conflicting interpretations of pathogenicity
(Nov 23, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr14:32295819
GRCh38:
Chr14:31826613
NUBPLnot specifiedLikely benign
(Oct 11, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr14:32295866
GRCh38:
Chr14:31826660
NUBPLMitochondrial complex I deficiency, not specifiedGMAF:0.00160(T)
GO-ESP:0.00045(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr14:32295912
GRCh38:
Chr14:31826706
NUBPLMitochondrial complex I deficiency, not specifiedGO-ESP:0.00114(T)Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr14:32295939
GRCh38:
Chr14:31826733
NUBPLnot specifiedLikely benign
(Jan 8, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr14:32319298
GRCh38:
Chr14:31850092
NUBPLnot provided, Inborn genetic diseasesGO-ESP:0.00348(C)
GMAF:0.00200(C)
GO-ESP:0.00373(C)
Conflicting interpretations of pathogenicity
(Jan 9, 2017)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr14:30851760-38181546
GRCh38:
Chr14:30382554-37712341
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
25.
GRCh37:
Chr14:20468770-39453619
GRCh38:
Chr14:20000611-38984415
ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TRD, TEP1, TGM1, NKX2-1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, AKAP6, KIAA0391, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, SUPT16H, ACIN1, SCFD1, KHNYN, SLC7A8, HECTD1, HEATR5A, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, RNU1-27P, RNU1-28P, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, HAUS4, PPP2R3C, C14orf119, RNF31, RBM23, DHRS4-AS1, G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, NUBPL, DCAF11, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, CARMIL3, PPP1R3E, TMEM55B, TTC5, EGLN3, DTD2, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4K14, OR4L1, OR11H6, KLHL33, MIPOL1, MDP1, CLEC14A, FITM1, REM2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR4Q2, OR4K13, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, LINC00517, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, MIR624, DHRS4L1, TRY-GTA7-1, TRY-GTA5-4, SNORD126, MIR208B, SLC25A21-AS1, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, MIR3171, MIR4307, PRMT5-AS1, LINC00645, LOC100506071, NKX2-1-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, NOVA1-AS1, FOXG1-AS1, MHRT, LINC02332, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, LINC02313, EGLN3-AS1, LOC105370457, SNORA89, SNORA101B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr14:31139520-45459798
GRCh38:
Chr14:30670314-44990595
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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