S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 215

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:94940958-103116536
GRCh38:
Chr10:93181201-101356779
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058777
2.
GRCh37:
Chr10:96872364-118383651
GRCh38:
Chr10:95112607-116776637
ALDH18A1, BLOC1S2, ANKRD2, BORCS7, BORCS7-ASMT, ABCC2, ARHGAP19, ARHGAP19-SLIT1, C10orf95-AS1, CALHM1, ABLIM1, ACSL5, ARL3, ARMH3, CALHM2, CALHM3, AS3MT, ATP5MK, CASP7, CC2D2B, CCNJ, CFAP43, CCDC172, CCDC186, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ACSM6, ACTR1A, ADD3, ATRNL1, AVPI1, BBIP1, BLNK, BTRC, C10orf12, C10orf131, C10orf62, C10orf82, C10orf95, CFAP58, CFAP58-DT, CHUK, CNNM1, CNNM2, COL17A1, COX15, CPN1, CRTAC1, CUEDC2, CUTC, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DNMBP, DNMBP-AS1, DNTT, DPCD, DUSP5, DUSP5-DT, ELOVL3, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FBXL15, FBXW4, FGF8, FHIP2A, FRA10B, FRAT1, FRAT2, GBF1, GFRA1, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, GPAM, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA12A-AS1, INA, ITPRIP, ITPRIP-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, LBX1, LBX1-AS1, LCOR, LDB1, LINC01435, LINC01475, LINC01514, LINC02620, LINC02624, LINC02626, LINC02627, LINC02661, LINC02681, LOC101927278, LOC101927692, LOC102723665, LOC103344931, LOC105378479, LOC107984265, LOC108281165, LOC109136576, LOC110120845, LOC110120850, LOC110120886, LOC110120887, LOC110121311, LOC110121472, LOC110121505, LOC110408762, LOC111501773, LOC111832675, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC113939914, LOC116216118, LOC116216119, LOC116216120, LOC116216121, LOC121366075, LOC121366076, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC644215, LOXL4, LZTS2, MARVELD1, MFSD13A, MIR1287, MIR1307, MIR146B, MIR2110, MIR3085, MIR3157, MIR3158-1, MIR3158-2, MIR4295, MIR4482, MIR4483, MIR4680, MIR4685, MIR548E, MIR607, MIR608, MIR609, MIR6507, MIR6715A, MIR6715B, MIR936, MMS19, MORN4, MRPL43, MXI1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX2-3, NOLC1, NPM3, NRAP, NT5C2, OGA, OLMALINC, OPALIN, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PITX3, PKD2L1, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPRC1, PSD, PYROXD2, R3HCC1L, RBM20, RPEL1, RRP12, SCD, SEC31B, SEMA4G, SFR1, SFRP5, SFXN2, SFXN3, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLC25A28, SLF2, SLIT1, SLIT1-AS1, SLK, SMC3, SMNDC1, SNORA12, SNORA87, SNORD158, SORBS1, SORCS1, SORCS3, SORCS3-AS1, STN1, SUFU, TAF5, TCF7L2, TCTN3, TDRD1, TECTB, TLL2, TLX1, TLX1NB, TM9SF3, TRIM8, TRUB1, TWNK, UBTD1, VTI1A, VWA2, WBP1L, WNT8B, XPNPEP1, ZDHHC16, ZDHHC6, ZFYVE27, ZNF518A
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057116
3.
GRCh37:
Chr10:101953972-134246301
GRCh38:
Chr10:100194215-132432797
LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC112577516, MIR9851, HEAT2, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, ACADSB, ADD3, ADRA2A, ADRB1, ARL3, BNIP3, CASP7, CHUK, COL17A1, CTBP2, CYP17A1, DMBT1, DOCK1, DUSP5, EMX2, FGF8, FGFR2, GFRA1, PRLHR, GPR26, GRK5, HABP2, HMX2, TLX1, ABLIM1, MGMT, MKI67, MXI1, NDUFB8, NFKB2, NRAP, OAT, PAX2, PITX3, PNLIP, PNLIPRP1, PNLIPRP2, HTRA1, PSD, PTPRE, RGS10, SCD, FBXW4, SLC18A2, TAF5, TCF7L2, TECTB, TIAL1, UROS, WNT8B, XPNPEP1, SHOC2, ADAM12, EIF3A, GBF1, LDB1, BTRC, PKD2L1, INA, SMC3, NEURL1, BUB3, NOLC1, GSTO1, BAG3, SH3PXD2A, FAM53B, SLK, DCLRE1A, ACTR1A, SMNDC1, NPM3, GLRX3, DPYSL4, TACC2, LBX1, OGA, PRDX3, VAX1, ATE1, SEC23IP, RAB11FIP2, INPP5F, NT5C2, PDCD11, SORCS3, PPRC1, ABRAXAS2, DPCD, SEC31B, ATRNL1, EDRF1, PDCD4, POLL, KCNIP2, CUZD1, CALHM2, CHST15, SUFU, ACSL5, ZRANB1, NSMCE4A, CNNM2, WBP1L, CCDC186, CWF19L1, HIF1AN, WDR11, SLF2, DHX32, PPP2R2D, TDRD1, BCCIP, TWNK, AS3MT, GPAM, SHTN1, FHIP2A, SEMA4G, PLEKHA1, FAM204A, LHPP, IKZF5, ZDHHC6, CUEDC2, FBXL15, ARMH3, HPS6, MFSD13A, MCMBP, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, CFAP43, LRRC27, TRIM8, KAZALD1, SFXN3, ELOVL3, PCGF6, LZTS2, MRPL43, AFAP1L2, ATP5MK, ITPRIP, OLMALINC, BBIP1, FANK1, SORCS1, C10orf90, BTBD16, FAM24A, PSTK, MMP21, SFXN2, PDZD8, BORCS7, GSTO2, SFR1, CALHM3, CLRN3, PNLIPRP3, SFXN4, CPXM2, TRUB1, VTI1A, C10orf82, CACUL1, CFAP58, PWWP2B, EMX2OS, PLPP4, FAM24B, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, JAKMIP3, STK32C, BLOC1S2, RBM20, PDCD4-AS1, LOC283038, WDR11-DT, KCNK18, VWA2, NANOS1, HMX3, NHLRC2, CCDC172, ENO4, ARMS2, TEX36, C10orf143, NKX1-2, LBX1-AS1, C10orf120, EEF1AKMT2, EDRF1-DT, FOXI2, LINC01164, LINC01561, DENND10, MIR146B, NPS, SNORA19, INSYN2A, SNORA12, MIR608, MIR609, LOC728158, LINC02667, RPEL1, TLX1NB, MIR936, ATE1-AS1, TEX36-AS1, KCNIP2-AS1, MIR1307, MIR2110, MIR548E, MIR378C, MIR4297, MIR3158-1, MIR4295, MIR3158-2, MIR4296, MIR3941, MIR3663, C10orf95-AS1, SH3PXD2A-AS1, CFAP58-DT, SORCS3-AS1, ADD3-AS1, LINC00867, BORCS7-ASMT, FAM24B-CUZD1, MIR4680, MIR4483, MIR4682, MIR4482, MIR4484, MIR4681, LINC00601, FANK1-AS1, LINC01163, LINC01514, LINC02681, ITPRIP-AS1, TCERG1L-AS1, LINC02620, LINC02627, LOC101927692, MIR3663HG, GRK5-IT1, LINC01153, FAM53B-AS1, EDRF1-AS1, MIR6715B, MIR6715A, CYP17A1-AS1, NEURL1-AS1, LINC02626, LINC02674, LOC103344931, LINC01435, LINC02624, LINC02661, LOC105378479, DUSP5-DT, HSPA12A-AS1, SLC18A2-AS1, LINC02641, AS-PTPRE, JAKMIP3-AS1, SNORA87, LOC107984265, LOC109136576, FRA10B, SNORD158, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120887, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121311, LOC110121334, LOC110121344, LOC110121396, LOC110121472, LOC110408762, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059707
4.
GRCh37:
Chr10:102360249-135436092
GRCh38:
Chr10:100600492-133622588
ARMH3, ARMS2, AS-PTPRE, AS3MT, ATE1, ATE1-AS1, ATP5MK, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BORCS7, BORCS7-ASMT, BTBD16, BTRC, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, C10orf95, C10orf95-AS1, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP43, CFAP46, CFAP58, CFAP58-DT, CHST15, CLRN3, CNNM2, COL17A1, CPXM2, CTBP2, CUEDC2, CUZD1, CYP17A1, CYP17A1-AS1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPCD, DPYSL4, DUSP5, DUSP5-DT, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, ELOVL3, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FBXL15, FBXW4, FGF8, FGFR2, FHIP2A, FOXI2, FRA10B, FUOM, GBF1, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, GSTO1, GSTO2, HABP2, HEAT2, HMX2, HMX3, HPS6, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INA, INPP5A, INPP5F, INSYN2A, ITPRIP, ITPRIP-AS1, JAKMIP3, JAKMIP3-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, KCNK18, KNDC1, LBX1, LBX1-AS1, LDB1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01435, LINC01514, LINC01561, LINC02620, LINC02624, LINC02626, LINC02627, LINC02641, LINC02661, LINC02667, LINC02674, LINC02681, LINC02870, LOC101927692, LOC103344931, LOC105378479, LOC107984265, LOC107984282, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120887, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110408762, LOC110599579, LOC110599585, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC283038, LOC728158, LRRC27, LZTS2, MCMBP, MFSD13A, MGMT, MIR1307, MIR146B, MIR202, MIR202HG, MIR2110, MIR3158-1, MIR3158-2, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4482, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR608, MIR609, MIR6715A, MIR6715B, MIR936, MIR9851, MKI67, MMP21, MRPL43, MTG1, MXI1, NANOS1, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX1-2, NKX6-2, NOLC1, NPM3, NPS, NRAP, NSMCE4A, NT5C2, OAT, OGA, PAOX, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDZD7, PDZD8, PITX3, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPP2R2D, PPRC1, PRAP1, PRDX3, PRLHR, PSD, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, RPEL1, SCART1, SEC23IP, SEMA4G, SFR1, SFXN2, SFXN3, SFXN4, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SLF2, SLK, SMC3, SMNDC1, SNORA19, SNORA87, SNORD158, SORCS1, SORCS3, SORCS3-AS1, SPRN, STK32C, STN1, SUFU, SYCE1, TACC2, TAF5, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TLX1, TLX1NB, TRIM8, TRUB1, TUBGCP2, TWNK, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WBP1L, WDR11, WDR11-DT, XPNPEP1, ZDHHC6, ZNF511, ZRANB1, ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACTR1A, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARL3
See casesPathogenic
(Sep 12, 2011)
no assertion criteria providedVCV000148679
5.
GRCh37:
Chr10:102747318
GRCh38:
Chr10:100987561
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000298484
6.
GRCh37:
Chr10:102747324
GRCh38:
Chr10:100987567
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000298485
7.
GRCh37:
Chr10:102747346
GRCh38:
Chr10:100987589
TWNKInfantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000877083
8.
GRCh37:
Chr10:102747363
GRCh38:
Chr10:100987606
TWNKAutosomal recessive cerebellar ataxia, not specified, Infantile onset spinocerebellar ataxia,
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000136593
9.
GRCh37:
Chr10:102747376
GRCh38:
Chr10:100987619
TWNKInfantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000878124
10.
GRCh37:
Chr10:102747383
GRCh38:
Chr10:100987626
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298486
11.
GRCh37:
Chr10:102747384
GRCh38:
Chr10:100987627
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Infantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
Autosomal recessive cerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879588
12.
GRCh37:
Chr10:102747419
GRCh38:
Chr10:100987662
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298487
13.
GRCh37:
Chr10:102747498
GRCh38:
Chr10:100987741
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298488
14.
GRCh37:
Chr10:102747545
GRCh38:
Chr10:100987788
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298489
15.
GRCh37:
Chr10:102747550
GRCh38:
Chr10:100987793
TWNKInfantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877145
16.
GRCh37:
Chr10:102747661-102747662
GRCh38:
Chr10:100987904-100987905
TWNKMitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Ataxia Neuropathy Spectrum Disorders,
Autosomal recessive cerebellar ataxia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000298490
17.
GRCh37:
Chr10:102747664
GRCh38:
Chr10:100987907
TWNKInfantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000877146
18.
GRCh37:
Chr10:102747678
GRCh38:
Chr10:100987921
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000298491
19.
GRCh37:
Chr10:102747727
GRCh38:
Chr10:100987970
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia, not provided,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Infantile onset spinocerebellar ataxia
Likely benign
(Dec 5, 2018)
criteria provided, multiple submitters, no conflictsVCV000298492
20.
GRCh37:
Chr10:102747863
GRCh38:
Chr10:100988106
TWNKMitochondrial DNA depletion syndrome, Ataxia Neuropathy Spectrum Disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions,
Autosomal recessive cerebellar ataxia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298493
21.
GRCh37:
Chr10:102747997
GRCh38:
Chr10:100988240
TWNKnot providedLikely benign
(Jul 15, 2018)
criteria provided, single submitterVCV000772439
22.
GRCh37:
Chr10:102747997
GRCh38:
Chr10:100988240
TWNKnot specifiedLikely benign
(Oct 19, 2015)
criteria provided, single submitterVCV000380984
23.
GRCh37:
Chr10:102748013
GRCh38:
Chr10:100988256
TWNKL17fsInfantile onset spinocerebellar ataxiaPathogenic
(Jul 17, 2019)
criteria provided, single submitterVCV000694436
24.
GRCh37:
Chr10:102748023
GRCh38:
Chr10:100988266
TWNKG19EAutosomal recessive cerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
not provided, Infantile onset spinocerebellar ataxia
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000426493
25.
GRCh37:
Chr10:102748033
GRCh38:
Chr10:100988276
TWNKG23fsnot providedLikely pathogenic
(Dec 23, 2019)
criteria provided, single submitterVCV001163331
26.
GRCh37:
Chr10:102748042
GRCh38:
Chr10:100988285
TWNKnot providedLikely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000719153
27.
GRCh37:
Chr10:102748043
GRCh38:
Chr10:100988286
TWNKG26SAutosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
not provided, Infantile onset spinocerebellar ataxia
Conflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000298494
28.
GRCh37:
Chr10:102748044
GRCh38:
Chr10:100988287
TWNKG26VSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000298495
29.
GRCh37:
Chr10:102748083
GRCh38:
Chr10:100988326
TWNKR39Hnot providedUncertain significance
(Nov 8, 2018)
criteria provided, single submitterVCV000388307
30.
GRCh37:
Chr10:102748136
GRCh38:
Chr10:100988379
TWNKA57Tnot providedLikely benignno assertion criteria providedVCV001285140
31.
GRCh37:
Chr10:102748160-102748161
GRCh38:
Chr10:100988403-100988404
TWNKH67fsnot providedLikely pathogenic
(Jan 16, 2017)
criteria provided, single submitterVCV000422970
32.
GRCh37:
Chr10:102748165
GRCh38:
Chr10:100988408
TWNKnot specifiedLikely benign
(Mar 13, 2018)
criteria provided, single submitterVCV000515988
33.
GRCh37:
Chr10:102748208
GRCh38:
Chr10:100988451
TWNKL81VAutosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, not provided
Conflicting interpretations of pathogenicity
(May 1, 2020)
criteria provided, conflicting interpretationsVCV000279715
34.
GRCh37:
Chr10:102748214
GRCh38:
Chr10:100988457
TWNKP83SInfantile onset spinocerebellar ataxia, not providedUncertain significance
(Jan 3, 2017)
criteria provided, single submitterVCV000056728
35.
GRCh37:
Chr10:102748215
GRCh38:
Chr10:100988458
TWNKP83Lnot providedUncertain significance
(Nov 1, 2019)
criteria provided, single submitterVCV000872774
36.
GRCh37:
Chr10:102748241
GRCh38:
Chr10:100988484
TWNKG92SProgressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome, Ataxia Neuropathy Spectrum Disorders,
Autosomal recessive cerebellar ataxia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000298496
37.
GRCh37:
Chr10:102748243
GRCh38:
Chr10:100988486
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
Infantile onset spinocerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000298497
38.
GRCh37:
Chr10:102748298
GRCh38:
Chr10:100988541
TWNKL112fsInfantile onset spinocerebellar ataxiaPathogenic
(Mar 20, 2016)
no assertion criteria providedVCV000225837
39.
GRCh37:
Chr10:102748305
GRCh38:
Chr10:100988548
TWNKC113Snot providedUncertain significance
(Jul 5, 2016)
criteria provided, single submitterVCV000214181
40.
GRCh37:
Chr10:102748307
GRCh38:
Chr10:100988550
TWNKM114Lnot specifiedLikely benign
(Nov 5, 2012)
criteria provided, single submitterVCV000214172
41.
GRCh37:
Chr10:102748351
GRCh38:
Chr10:100988594
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia,
Infantile onset spinocerebellar ataxia, not provided
Conflicting interpretations of pathogenicity
(Jun 15, 2020)
criteria provided, conflicting interpretationsVCV000281415
42.
GRCh37:
Chr10:102748352
GRCh38:
Chr10:100988595
TWNKV129Mnot providedUncertain significance
(Aug 28, 2019)
criteria provided, single submitterVCV001200366
43.
GRCh37:
Chr10:102748371
GRCh38:
Chr10:100988614
TWNKG135Enot providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitterVCV000806558
44.
GRCh37:
Chr10:102748401
GRCh38:
Chr10:100988644
TWNKA145Vnot specifiedLikely benign
(Jun 27, 2012)
criteria provided, single submitterVCV000214173
45.
GRCh37:
Chr10:102748459
GRCh38:
Chr10:100988702
TWNKSensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal recessive cerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
Infantile onset spinocerebellar ataxia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000298498
46.
GRCh37:
Chr10:102748541
GRCh38:
Chr10:100988784
TWNKR192Cmitochondrial hepatopathyLikely pathogenic
(Jul 17, 2019)
criteria provided, single submitterVCV000694435
47.
GRCh37:
Chr10:102748563
GRCh38:
Chr10:100988806
TWNKR199QInfantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000878242
48.
GRCh37:
Chr10:102748605
GRCh38:
Chr10:100988848
TWNKG213Vnot providedUncertain significance
(Nov 6, 2020)
criteria provided, single submitterVCV000392482
49.
GRCh37:
Chr10:102748606
GRCh38:
Chr10:100988849
TWNKInfantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia, not specified,
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, not provided
Conflicting interpretations of pathogenicity
(Mar 1, 2021)
criteria provided, conflicting interpretationsVCV000136587
50.
GRCh37:
Chr10:102748616
GRCh38:
Chr10:100988859
TWNKR217*Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3Likely pathogenic
(Sep 24, 2018)
criteria provided, single submitterVCV000975884
51.
GRCh37:
Chr10:102748639
GRCh38:
Chr10:100988882
TWNKAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000878844
52.
GRCh37:
Chr10:102748656
GRCh38:
Chr10:100988899
TWNKG230Vnot providedUncertain significance
(Nov 27, 2019)
criteria provided, single submitterVCV001183388
53.
GRCh37:
Chr10:102748666
GRCh38:
Chr10:100988909
TWNKnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000742104
54.
GRCh37:
Chr10:102748693
GRCh38:
Chr10:100988936
TWNKnot providedLikely benign
(Nov 27, 2019)
criteria provided, single submitterVCV001194635
55.
GRCh37:
Chr10:102748704
GRCh38:
Chr10:100988947
TWNKN246SPerrault syndrome 5, not specified, not provided
Conflicting interpretations of pathogenicity
(Jul 17, 2019)
criteria provided, conflicting interpretationsVCV000214174
56.
GRCh37:
Chr10:102748711
GRCh38:
Chr10:100988954
TWNKnot providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000737770
57.
GRCh37:
Chr10:102748760
GRCh38:
Chr10:100989003
TWNKR265CPerrault syndrome 5, Infantile onset spinocerebellar ataxiaUncertain significance
(Jul 31, 2019)
criteria provided, single submitterVCV000694394
58.
GRCh37:
Chr10:102748766
GRCh38:
Chr10:100989009
TWNKL267Vnot specifiedUncertain significance
(Jan 25, 2016)
criteria provided, single submitterVCV000382496
59.
GRCh37:
Chr10:102748768
GRCh38:
Chr10:100989011
TWNKnot specifiedLikely benign
(Sep 1, 2017)
criteria provided, single submitterVCV000390089
60.
GRCh37:
Chr10:102748820
GRCh38:
Chr10:100989063
TWNKR285*not providedPathogenic
(Sep 8, 2020)
criteria provided, single submitterVCV000620159
61.
GRCh37:
Chr10:102748828
GRCh38:
Chr10:100989071
TWNKnot providedUncertain significance
(May 27, 2016)
criteria provided, single submitterVCV000287894
62.
GRCh37:
Chr10:102748841
GRCh38:
Chr10:100989084
TWNKP292TPerrault syndrome 5Pathogenicno assertion criteria providedVCV000488187
63.
GRCh37:
Chr10:102748846
GRCh38:
Chr10:100989089
TWNKnot specifiedLikely benign
(Feb 7, 2017)
criteria provided, single submitterVCV000507251
64.
GRCh37:
Chr10:102748871
GRCh38:
Chr10:100989114
TWNKR302WInfantile onset spinocerebellar ataxia, none providedUncertain significance
(Sep 25, 2019)
criteria provided, single submitterVCV000225838
65.
GRCh37:
Chr10:102748874
GRCh38:
Chr10:100989117
TWNKR303Wnot providedLikely pathogenic
(Dec 16, 2020)
criteria provided, single submitterVCV001210826
66.
GRCh37:
Chr10:102748875
GRCh38:
Chr10:100989118
TWNKR303QAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, not providedUncertain significance
(Nov 13, 2019)
criteria provided, single submitterVCV000004628
67.
GRCh37:
Chr10:102748880
GRCh38:
Chr10:100989123
TWNKV305IAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Infantile onset spinocerebellar ataxia,
Autosomal recessive cerebellar ataxia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880052
68.
GRCh37:
Chr10:102748889
GRCh38:
Chr10:100989132
TWNKInfantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, not provided,
Autosomal recessive cerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Conflicting interpretations of pathogenicity
(Apr 17, 2018)
criteria provided, conflicting interpretationsVCV000298499
69.
GRCh37:
Chr10:102748911
GRCh38:
Chr10:100989154
TWNKW315LAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3Pathogenic
(Jul 1, 2001)
no assertion criteria providedVCV000004620
70.
GRCh37:
Chr10:102748919
GRCh38:
Chr10:100989162
TWNKA318TInfantile onset spinocerebellar ataxiaPathogenic
(Jul 22, 2010)
no assertion criteria providedVCV000004630
71.
GRCh37:
Chr10:102748922
GRCh38:
Chr10:100989165
TWNKK319EAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPathogenic
(Jul 22, 2010)
no assertion criteria providedVCV000004625
72.
GRCh37:
Chr10:102748934
GRCh38:
Chr10:100989177
TWNKR323*not providedLikely pathogenic
(Dec 14, 2020)
criteria provided, single submitterVCV000214183
73.
GRCh37:
Chr10:102748952
GRCh38:
Chr10:100989195
TWNKR329*not providedPathogenic
(May 1, 2020)
criteria provided, single submitterVCV000916388
74.
GRCh37:
Chr10:102748967
GRCh38:
Chr10:100989210
TWNKR334*See casesLikely pathogenic
(Jun 24, 2019)
criteria provided, single submitterVCV000932088
75.
GRCh37:
Chr10:102748968
GRCh38:
Chr10:100989211
TWNKR334QMitochondrial diseases, Infantile onset spinocerebellar ataxia, not provided,
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Pathogenic
(Aug 1, 2016)
criteria provided, multiple submitters, no conflictsVCV000004623
76.
GRCh37:
Chr10:102748970
GRCh38:
Chr10:100989213
TWNKP335Tnot provided, Mitochondrial diseases, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Conflicting interpretations of pathogenicity
(May 5, 2020)
criteria provided, conflicting interpretationsVCV000426102
77.
GRCh37:
Chr10:102748981
GRCh38:
Chr10:100989224
TWNKQ338Hnot providedUncertain significance
(Jun 27, 2017)
criteria provided, single submitterVCV000450033
78.
GRCh37:
Chr10:102748988
GRCh38:
Chr10:100989231
TWNKR341Cnot providedUncertain significance
(May 19, 2021)
criteria provided, single submitterVCV000214175
79.
GRCh37:
Chr10:102748989
GRCh38:
Chr10:100989232
TWNKR341Hnot providedUncertain significance
(Sep 15, 2017)
criteria provided, single submitterVCV000452091
80.
GRCh37:
Chr10:102749000
GRCh38:
Chr10:100989243
TWNKA345Snot providedLikely pathogenic
(Jun 3, 2016)
criteria provided, single submitterVCV000432174
81.
GRCh37:
Chr10:102749009
GRCh38:
Chr10:100989252
TWNKG348RInfantile onset spinocerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, not provided,
Autosomal recessive cerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Conflicting interpretations of pathogenicity
(Jul 8, 2020)
criteria provided, conflicting interpretationsVCV000298500
82.
GRCh37:
Chr10:102749019
GRCh38:
Chr10:100989262
TWNKN351Snot providedUncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV000426103
83.
GRCh37:
Chr10:102749028
GRCh38:
Chr10:100989271
TWNKR354Hnot providedUncertain significance
(Dec 1, 2020)
criteria provided, single submitterVCV001013575
84.
GRCh37:
Chr10:102749028
GRCh38:
Chr10:100989271
TWNKR354PAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3Pathogenic
(Jul 1, 2001)
no assertion criteria providedVCV000004621
85.
GRCh37:
Chr10:102749037
GRCh38:
Chr10:100989280
TWNKR357PInfantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Conflicting interpretations of pathogenicity
(Oct 9, 2017)
criteria provided, conflicting interpretationsVCV000632124
86.
GRCh37:
Chr10:102749040
GRCh38:
Chr10:100989283
TWNKA359fsSee casesUncertain significance
(Dec 14, 2018)
criteria provided, single submitterVCV000931274
87.
GRCh37:
Chr10:102749042
GRCh38:
Chr10:100989285
TWNKA359TAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Mitochondrial diseasesPathogenic
(Apr 7, 2017)
no assertion criteria providedVCV000004618
88.
GRCh37:
Chr10:102749051
GRCh38:
Chr10:100989294
TWNKA362Pnot specifiedUncertain significance
(Apr 14, 2017)
criteria provided, single submitterVCV000446900
89.
GRCh37:
Chr10:102749068
GRCh38:
Chr10:100989311
TWNKInfantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000298501
90.
GRCh37:
Chr10:102749069
GRCh38:
Chr10:100989312
TWNKV368Inot provided, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
none provided, Autosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia,
not specified
Benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000136588
91.
GRCh37:
Chr10:102749073
GRCh38:
Chr10:100989316
TWNKS369YAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3Pathogenic
(Sep 15, 2002)
no assertion criteria providedVCV000004624
92.
GRCh37:
Chr10:102749077
GRCh38:
Chr10:100989320
TWNKF370Lnot providedPathogenic
(May 5, 2014)
criteria provided, single submitterVCV000214184
93.
GRCh37:
Chr10:102749079
GRCh38:
Chr10:100989322
TWNKR371Qnot providedUncertain significance
(Feb 26, 2021)
criteria provided, multiple submitters, no conflictsVCV000214176
94.
GRCh37:
Chr10:102749087
GRCh38:
Chr10:100989330
TWNKR374Wnot provided, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3Likely pathogenic
(Jan 31, 2018)
criteria provided, single submitterVCV000004629
95.
GRCh37:
Chr10:102749088
GRCh38:
Chr10:100989331
TWNKR374QMitochondrial diseases, not provided, Abnormal mitochondria in muscle tissue,
EMG: myopathic abnormalities, Bilateral ptosis, Bilateral sensorineural hearing impairment,
Depressivity, Dysphonia, Neuromuscular dysphagia,
Progressive external ophthalmoplegia
Pathogenic/Likely pathogenic
(Jul 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000426106
96.
GRCh37:
Chr10:102749109
GRCh38:
Chr10:100989352
TWNKL381PAutosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Mitochondrial diseasesPathogenic
(Apr 7, 2017)
no assertion criteria providedVCV000004622
97.
GRCh37:
Chr10:102749114
GRCh38:
Chr10:100989357
TWNKN383Dnot providedUncertain significance
(Apr 20, 2017)
criteria provided, single submitterVCV000426322
98.
GRCh37:
Chr10:102749139
GRCh38:
Chr10:100989382
TWNKR391HAutosomal recessive cerebellar ataxia, Infantile onset spinocerebellar ataxia, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Perrault syndrome 5
Likely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000162048
99.
GRCh37:
Chr10:102749150
GRCh38:
Chr10:100989393
TWNKF395Lnot providedLikely pathogenic
(Apr 21, 2016)
criteria provided, single submitterVCV000432118
100.
GRCh37:
Chr10:102749163
GRCh38:
Chr10:100989406
TWNKN399Snot provided, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000214185
Format
Items per page
Sort by

Download:

Choose Destination
Support Center