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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:75092523-142361637
GRCh38:
Chr6:74382807-142040500
CRYBG1, AMD1, ARG1, BCKDHB, PRDM1, CCNC, CGA, CNR1, COL10A1, COL12A1, COX7A2, CCN2, EPB41L2, EPHA7, EYA4, FABP7, FOXO3, FRK, FYN, GABRR1, GABRR2, GJA1, GPR6, GRIK2, HDAC2, HSF2, HTR1B, HTR1E, IFNGR1, IMPG1, KPNA5, LAMA2, LAMA4, MARCKS, MAN1A1, ME1, MAP3K5, MYB, MYO6, NT5E, ENPP1, ENPP3, PEX7, PGM3, PLN, POU3F2, PREP, PKIB, PTPRK, REV3L, ROS1, RPS12, SGK1, SIM1, SMPD2, ELOVL4, MAP3K7, TCF21, NR2E1, TNFAIP3, TPBG, TPD52L1, TSPYL1, TTK, RNF217-AS1, STX7, DDO, SNX3, RNGTT, CD164, CCN6, VNN2, VNN1, WASF1, TAAR5, MAP7, TBX18, TAAR2, HMGN3, MED23, FHL5, AKAP7, ATG5, TBPL1, KIAA0408, BCLAF1, ZBTB24, SNAP91, FIG4, CASP8AP2, TRDN, CITED2, SYNCRIP, SLC35A1, FUT9, TRAF3IP2, HBS1L, SMPDL3A, PNRC1, ASCC3, BVES, SEC63, CEP162, ANKRD6, DOP1A, ZNF292, CDK19, MDN1, TSPYL4, UFL1, HEY2, HEBP2, ORC3, ASF1A, CCDC28A, PNISR, IBTK, MOXD1, SENP6, FBXL4, SNORD50A, PDE7B, FILIP1, SESN1, OSTM1, NDUFAF4, DSE, HDDC2, CYB5R4, TUBE1, MTRES1, CDC40, RWDD1, UBE2J1, HECA, COQ3, IL20RA, AHI1, PHIP, SOBP, AKIRIN2, QRSL1, VNN3, TENT5A, TMEM30A, ECHDC1, RARS2, PDSS2, GOPC, SMIM8, ARFGEF3, NHSL1, LYRM2, SNX14, SERINC1, HACE1, BEND3, ABRACL, RRAGD, PRDM13, PBOV1, BACH2, TRMT11, LINC01590, PERP, POPDC3, ALDH8A1, MICAL1, OR2A4, FAM184A, MANEA, LCAL1, GPR63, SPACA1, RNF146, TAAR8, SH3BGRL2, ARMC2, RPF2, L3MBTL3, MCHR2, FAXC, GJA10, RTN4IP1, RSPO3, USP45, REPS1, SLC22A16, LINC01621, UBE3D, MFSD4B, ARHGAP18, GTF3C6, MRAP2, RWDD2A, MTFR2, KLHL32, TMEM200A, NUS1, IL22RA2, SLC18B1, SLC16A10, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, NCOA7, HINT3, PM20D2, SRSF12, SAMD3, LINC01312, SLC2A12, LINC01010, RNF217, NKAIN2, CFAP206, BVES-AS1, PRSS35, LCA5, OLIG3, TXLNB, C6orf163, AK9, NT5DC1, CALHM4, ZUP1, FAM162B, TBC1D32, HS3ST5, GPRC6A, RFX6, SLC35F1, VGLL2, AFG1L, TMEM244, MMS22L, CALHM5, MCM9, SCML4, LINC00326, CEP57L1, PPIL6, MROCKI, LINC02880, DCBLD1, LOC285762, TAAR6, SLC35D3, RSPH4A, ECT2L, C6orf58, GJB7, SNHG5, CENPW, SOGA3, LINC00222, CEP85L, THEMIS, LIN28B, C6orf183, CALHM6, FLJ46906, RFPL4B, SNORD101, SNORD100, SNORA33, FAM229B, TSG1, LINC02523, TRAF3IP2-AS1, CTAGE9, LOC644135, LINC01625, SNORD50B, MIR548A2, MIR548B, MIR587, MIR588, MCHR2-AS1, METTL24, LIN28B-AS1, LOC100126584, TRAPPC3L, WAKMAR2, TSTD3, LINC00271, FILNC1, CD24, TRE-CTC1-7, OSTM1-AS1, LOC100287467, HMGN3-AS1, NHEG1, MIR2113, LINC02532, MIR3144, MIR3145, MIR3668, MIR3662, TMEM30A-DT, SMLR1, LINC01013, TARID, LINC02539, CCDC28A-AS1, LOC100507477, MIR4464, MIR4643, MIR4465, MIR548AJ1, MIR548AI, MIR4463, MIR548H5, UFL1-AS1, C6orf183, MANEA-DT, LOC101927314, LOC101927365, LAMA4-AS1, LINC02541, HDAC2-AS2, LOC101927919, TRDN-AS1, PTPRK-AS1, CT69, LOC101928304, LOC101928429, MAP3K5-AS1, LOC101928516, LOC101928540, MEI4, LINC01526, LINC02535, LOC101928911, LOC101928936, LOC101929057, CASC6, ARMC2-AS1, LOC102723649, LINC02542, TBX18-AS1, SIM1-AS1, LOC102724646, LOC103352541, NCOA7-AS1, LINC02540, LOC105377879, LINC01611, LINC02836, LOC105377924, LINC02526, LINC02527, LINC02518, LINC02534, LOC105377967, LOC105377975, LINC02528, PNKY, LOC107986532, LINC02531, LOC108169207, LOC108228196, LOC108281144, CRE2, LOC108348029, SNORA40C, SNORD156, SNORD166, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, SMIM28, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, MIR10524, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074
See casesPathogenic
(Jul 5, 2011)
no assertion criteria providedVCV000150937
2.
GRCh37:
Chr6:97057870-122482694
GRCh38:
Chr6:96609994-122161548
CRYBG1, AMD1, PRDM1, CCNC, COL10A1, FOXO3, FRK, FYN, GJA1, GPR6, GRIK2, HDAC2, KPNA5, LAMA4, MARCKS, MAN1A1, PLN, POU3F2, PREP, REV3L, ROS1, SIM1, SMPD2, NR2E1, TSPYL1, DDO, SNX3, CD164, CCN6, WASF1, FHL5, ATG5, ZBTB24, FIG4, TRAF3IP2, ASCC3, BVES, SEC63, CDK19, TSPYL4, ASF1A, PNISR, FBXL4, SESN1, OSTM1, NDUFAF4, DSE, TUBE1, MTRES1, CDC40, RWDD1, COQ3, SOBP, QRSL1, PDSS2, GOPC, HACE1, BEND3, PRDM13, POPDC3, MICAL1, FAM184A, GPR63, ARMC2, RPF2, MCHR2, FAXC, RTN4IP1, USP45, SLC22A16, MFSD4B, GTF3C6, KLHL32, NUS1, SLC16A10, BVES-AS1, AK9, NT5DC1, CALHM4, ZUP1, FAM162B, TBC1D32, HS3ST5, GPRC6A, RFX6, SLC35F1, VGLL2, AFG1L, MMS22L, CALHM5, MCM9, SCML4, CEP57L1, PPIL6, MROCKI, LINC02880, DCBLD1, LOC285762, RSPH4A, LINC00222, CEP85L, LIN28B, C6orf183, CALHM6, RFPL4B, FAM229B, TRAF3IP2-AS1, MIR548B, MIR587, MCHR2-AS1, METTL24, LIN28B-AS1, TRAPPC3L, TSTD3, CD24, OSTM1-AS1, LOC100287467, MIR2113, LINC02532, MIR3144, MIR548AI, C6orf183, LOC101927314, LOC101927365, LAMA4-AS1, LINC02541, HDAC2-AS2, LOC101927919, ARMC2-AS1, SIM1-AS1, LOC102724646, LINC02836, LOC105377924, LINC02526, LINC02527, LINC02518, LINC02534, LOC105377967, LOC105377975, PNKY, CRE2, SNORA40C, SNORD166, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121109, LOC110121145, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC111365204, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478
See casesPathogenic
(Aug 2, 2011)
no assertion criteria providedVCV000150641
3.
GRCh37:
Chr6:98301652-103028472
GRCh38:
Chr6:97853776-102580597
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058439
4.
GRCh37:
Chr6:99116405-101714826
GRCh38:
Chr6:98668529-101266950
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058440
5.
GRCh37:
Chr6:99218523-100260987
GRCh38:
Chr6:98770647-99813111
See casesUncertain significance
(Oct 19, 2010)
no assertion criteria providedVCV000154571
6.
GRCh37:
Chr6:99322136
GRCh38:
Chr6:98874260
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437825
7.
GRCh37:
Chr6:99322143
GRCh38:
Chr6:98874267
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437824
8.
GRCh37:
Chr6:99322145
GRCh38:
Chr6:98874269
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437827
9.
GRCh37:
Chr6:99322149-99322151
GRCh38:
Chr6:98874273-98874275
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437828
10.
GRCh37:
Chr6:99322149
GRCh38:
Chr6:98874273
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Benign
(Aug 10, 2017)
criteria provided, single submitterVCV000437826
11.
GRCh37:
Chr6:99322150
GRCh38:
Chr6:98874274
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437823
12.
GRCh37:
Chr6:99322151
GRCh38:
Chr6:98874275
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not specifiedBenign
(Apr 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000381422
13.
GRCh37:
Chr6:99322161
GRCh38:
Chr6:98874285
FBXL4T620SMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437822
14.
GRCh37:
Chr6:99322182
GRCh38:
Chr6:98874306
FBXL4V613EMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437487
15.
GRCh37:
Chr6:99322184
GRCh38:
Chr6:98874308
FBXL4V613fsMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437821
16.
GRCh37:
Chr6:99322194
GRCh38:
Chr6:98874318
FBXL4S609NMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437820
17.
GRCh37:
Chr6:99322224
GRCh38:
Chr6:98874348
FBXL4D599GMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437819
18.
GRCh37:
Chr6:99322230
GRCh38:
Chr6:98874354
FBXL4Q597Pnot provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic/Likely pathogenic
(May 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000437486
19.
GRCh37:
Chr6:99322232
GRCh38:
Chr6:98874356
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437818
20.
GRCh37:
Chr6:99322232
GRCh38:
Chr6:98874356
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437817
21.
GRCh37:
Chr6:99322233
GRCh38:
Chr6:98874357
FBXL4S596LMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437816
22.
GRCh37:
Chr6:99322241
GRCh38:
Chr6:98874365
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437815
23.
GRCh37:
Chr6:99322242
GRCh38:
Chr6:98874366
FBXL4S593CMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437814
24.
GRCh37:
Chr6:99322247
GRCh38:
Chr6:98874371
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437813
25.
GRCh37:
Chr6:99322248
GRCh38:
Chr6:98874372
FBXL4D591AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Conflicting interpretations of pathogenicity
(Nov 16, 2017)
criteria provided, conflicting interpretationsVCV000437812
26.
GRCh37:
Chr6:99322248
GRCh38:
Chr6:98874372
FBXL4D591GMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437485
27.
GRCh37:
Chr6:99322256
GRCh38:
Chr6:98874380
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437811
28.
GRCh37:
Chr6:99322260
GRCh38:
Chr6:98874384
FBXL4L587PMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437810
29.
GRCh37:
Chr6:99322269
GRCh38:
Chr6:98874393
FBXL4C584FMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437809
30.
GRCh37:
Chr6:99322270
GRCh38:
Chr6:98874394
FBXL4C584RMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437484
31.
GRCh37:
Chr6:99322272
GRCh38:
Chr6:98874396
FBXL4S583CMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437808
32.
GRCh37:
Chr6:99322275
GRCh38:
Chr6:98874399
FBXL4E582GMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437807
33.
GRCh37:
Chr6:99322275
GRCh38:
Chr6:98874399
FBXL4E582AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437806
34.
GRCh37:
Chr6:99322281
GRCh38:
Chr6:98874405
FBXL4L580PMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437805
35.
GRCh37:
Chr6:99322281
GRCh38:
Chr6:98874405
FBXL4L580RMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437804
36.
GRCh37:
Chr6:99322291
GRCh38:
Chr6:98874415
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437803
37.
GRCh37:
Chr6:99322297
GRCh38:
Chr6:98874421
FBXL4A575SMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437802
38.
GRCh37:
Chr6:99322297
GRCh38:
Chr6:98874421
FBXL4A575TMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437801
39.
GRCh37:
Chr6:99322298
GRCh38:
Chr6:98874422
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437800
40.
GRCh37:
Chr6:99322299
GRCh38:
Chr6:98874423
FBXL4P574LMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437799
41.
GRCh37:
Chr6:99322299
GRCh38:
Chr6:98874423
FBXL4P574QMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437798
42.
GRCh37:
Chr6:99322307
GRCh38:
Chr6:98874431
FBXL4M571IMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437797
43.
GRCh37:
Chr6:99322317
GRCh38:
Chr6:98874441
FBXL4G568AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic/Likely pathogenic
(Nov 16, 2017)
criteria provided, multiple submitters, no conflictsVCV000066092
44.
GRCh37:
Chr6:99322326
GRCh38:
Chr6:98874450
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437796
45.
GRCh37:
Chr6:99322327
GRCh38:
Chr6:98874451
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437795
46.
GRCh37:
Chr6:99322328-99322329
GRCh38:
Chr6:98874452-98874453
FBXL4not specifiedLikely benign
(Mar 28, 2017)
criteria provided, single submitterVCV000419943
47.
GRCh37:
Chr6:99322331
GRCh38:
Chr6:98874455
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437794
48.
GRCh37:
Chr6:99322999-99323000
GRCh38:
Chr6:98875123-98875124
FBXL4not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000680585
49.
GRCh37:
Chr6:99323273
GRCh38:
Chr6:98875397
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437793
50.
GRCh37:
Chr6:99323280
GRCh38:
Chr6:98875404
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437792
51.
GRCh37:
Chr6:99323285
GRCh38:
Chr6:98875409
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437791
52.
GRCh37:
Chr6:99323293
GRCh38:
Chr6:98875417
FBXL4L567SMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437790
53.
GRCh37:
Chr6:99323294
GRCh38:
Chr6:98875418
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437789
54.
GRCh37:
Chr6:99323295
GRCh38:
Chr6:98875419
FBXL4I566MMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437483
55.
GRCh37:
Chr6:99323299
GRCh38:
Chr6:98875423
FBXL4D565GMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000066094
56.
GRCh37:
Chr6:99323304
GRCh38:
Chr6:98875428
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437788
57.
GRCh37:
Chr6:99323306
GRCh38:
Chr6:98875430
FBXL4Q563*Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437494
58.
GRCh37:
Chr6:99323308
GRCh38:
Chr6:98875432
FBXL4Q562RMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437787
59.
GRCh37:
Chr6:99323312
GRCh38:
Chr6:98875436
FBXL4L561IMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437786
60.
GRCh37:
Chr6:99323320
GRCh38:
Chr6:98875444
FBXL4C558YMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(May 28, 2019)
criteria provided, single submitterVCV000802252
61.
GRCh37:
Chr6:99323321
GRCh38:
Chr6:98875445
FBXL4C558GMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437785
62.
GRCh37:
Chr6:99323323
GRCh38:
Chr6:98875447
FBXL4N557SMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437784
63.
GRCh37:
Chr6:99323331
GRCh38:
Chr6:98875455
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437783
64.
GRCh37:
Chr6:99323337
GRCh38:
Chr6:98875461
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437782
65.
GRCh37:
Chr6:99323341
GRCh38:
Chr6:98875465
FBXL4I551NMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437482
66.
GRCh37:
Chr6:99323344-99323345
GRCh38:
Chr6:98875468-98875469
FBXL4D550fsMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Pathogenic
(Dec 3, 2017)
criteria provided, multiple submitters, no conflictsVCV000437499
67.
GRCh37:
Chr6:99323351-99323352
GRCh38:
Chr6:98875475-98875476
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not providedPathogenic
(Aug 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000265143
68.
GRCh37:
Chr6:99323362
GRCh38:
Chr6:98875486
FBXL4R544KMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437781
69.
GRCh37:
Chr6:99323365
GRCh38:
Chr6:98875489
FBXL4N543TMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437780
70.
GRCh37:
Chr6:99323367
GRCh38:
Chr6:98875491
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437779
71.
GRCh37:
Chr6:99323371
GRCh38:
Chr6:98875495
FBXL4T541IMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437481
72.
GRCh37:
Chr6:99323376
GRCh38:
Chr6:98875500
FBXL4F539LMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437778
73.
GRCh37:
Chr6:99323386
GRCh38:
Chr6:98875510
FBXL4Q536Pnot providedLikely pathogenic
(Jul 27, 2017)
no assertion criteria providedVCV000545084
74.
GRCh37:
Chr6:99323399
GRCh38:
Chr6:98875523
FBXL4L532VMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437777
75.
GRCh37:
Chr6:99323401
GRCh38:
Chr6:98875525
FBXL4Q531RMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437776
76.
GRCh37:
Chr6:99323406
GRCh38:
Chr6:98875530
FBXL4not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000725542
77.
GRCh37:
Chr6:99323407
GRCh38:
Chr6:98875531
FBXL4A529EMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000437480
78.
GRCh37:
Chr6:99323413
GRCh38:
Chr6:98875537
FBXL4R527IMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437775
79.
GRCh37:
Chr6:99323424
GRCh38:
Chr6:98875548
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437774
80.
GRCh37:
Chr6:99323424
GRCh38:
Chr6:98875548
FBXL4not provided, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not specified
Benign
(Aug 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000260208
81.
GRCh37:
Chr6:99323426
GRCh38:
Chr6:98875550
FBXL4G523RMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437773
82.
GRCh37:
Chr6:99323427
GRCh38:
Chr6:98875551
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not providedConflicting interpretations of pathogenicity
(Jun 11, 2018)
criteria provided, conflicting interpretationsVCV000437772
83.
GRCh37:
Chr6:99323429
GRCh38:
Chr6:98875553
FBXL4T522AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437771
84.
GRCh37:
Chr6:99323430-99323447
GRCh38:
Chr6:98875554-98875571
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not providedLikely pathogenic
(Aug 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000235778
85.
GRCh37:
Chr6:99323438
GRCh38:
Chr6:98875562
FBXL4Q519*Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not providedPathogenic
(Dec 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000066090
86.
GRCh37:
Chr6:99323440
GRCh38:
Chr6:98875564
FBXL4L518RMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437770
87.
GRCh37:
Chr6:99323444
GRCh38:
Chr6:98875568
FBXL4T517PMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437769
88.
GRCh37:
Chr6:99323447
GRCh38:
Chr6:98875571
FBXL4P516SMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437768
89.
GRCh37:
Chr6:99323453
GRCh38:
Chr6:98875577
FBXL4W514GMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Likely pathogenic
(Nov 16, 2017)
criteria provided, multiple submitters, no conflictsVCV000437479
90.
GRCh37:
Chr6:99323460
GRCh38:
Chr6:98875584
FBXL4D511EMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437767
91.
GRCh37:
Chr6:99323465
GRCh38:
Chr6:98875589
FBXL4L510VMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437766
92.
GRCh37:
Chr6:99323467
GRCh38:
Chr6:98875591
FBXL4E509AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437765
93.
GRCh37:
Chr6:99323475
GRCh38:
Chr6:98875599
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437764
94.
GRCh37:
Chr6:99323485
GRCh38:
Chr6:98875609
FBXL4G503VMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437763
95.
GRCh37:
Chr6:99323510
GRCh38:
Chr6:98875634
FBXL4N495HMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437762
96.
GRCh37:
Chr6:99323525
GRCh38:
Chr6:98875649
FBXL4K490EMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437761
97.
GRCh37:
Chr6:99323529
GRCh38:
Chr6:98875653
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437760
98.
GRCh37:
Chr6:99323544
GRCh38:
Chr6:98875668
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437759
99.
GRCh37:
Chr6:99323548
GRCh38:
Chr6:98875672
FBXL4R482QMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Uncertain significance
(Aug 10, 2017)
criteria provided, single submitterVCV000437758
100.
GRCh37:
Chr6:99323549
GRCh38:
Chr6:98875673
FBXL4R482WMitochondrial DNA depletion syndrome 13 (encephalomyopathic type), not provided, Mitochondrial encephalomyopathy,
Global developmental delay
Pathogenic/Likely pathogenic
(Aug 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000066093
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