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

Download:

Choose Destination

Search results

Items: 1 to 100 of 365

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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
2.
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
3.
GRCh37:
Chr10:108685061-135434319
GRCh38:
Chr10:106925303-133620815
ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, DUSP5, DUSP5-DT, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FHIP2A, FOXI2, FRA10B, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, HABP2, HEAT2, HMX2, HMX3, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KCNK18, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01435, LINC01561, LINC02626, LINC02641, LINC02661, LINC02667, LINC02674, LINC02870, LOC101927692, LOC103344931, LOC105378479, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, LOC113939914, LOC113939915, LOC116216121, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR2110, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR6715A, MIR6715B, MIR9851, MKI67, MMP21, MTG1, MXI1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDCD4, PDCD4-AS1, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, SCART1, SEC23IP, SFXN4, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SMC3, SMNDC1, SNORA19, SNORA87, SNORD158, SORCS1, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, WDR11-DT, XPNPEP1, ZDHHC6, ZNF511, ZRANB1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059727
4.
GRCh37:
Chr10:109862345-135434178
GRCh38:
Chr10:108102587-133620674
FRA10B, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, HABP2, HEAT2, HMX2, HMX3, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KCNK18, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02626, LINC02641, LINC02661, LINC02667, LINC02674, LINC02870, LOC101927692, LOC103344931, LOC105378479, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, LOC113939914, LOC113939915, LOC116216121, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR2110, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR6715A, MIR6715B, MIR9851, MKI67, MMP21, MTG1, MXI1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDCD4, PDCD4-AS1, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, SCART1, SEC23IP, SFXN4, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SMC3, SMNDC1, SNORA19, SNORA87, SNORD158, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, WDR11-DT, XPNPEP1, ZDHHC6, ZNF511, ZRANB1, ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, DUSP5, DUSP5-DT, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FHIP2A, FOXI2
See casesPathogenic
(May 27, 2010)
no assertion criteria providedVCV000144206
5.
GRCh37:
Chr10:113072857-135434178
GRCh38:
Chr10:111313099-133620674
ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ADRB1, AFAP1L2, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, ATRNL1, BAG3, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FHIP2A, FOXI2, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, HABP2, HMX2, HMX3, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KCNK18, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02626, LINC02641, LINC02667, LINC02674, LINC02870, LOC101927692, LOC103344931, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, LOC113939914, LOC113939915, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR2110, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4483, MIR4484, MIR4681, MIR4682, MIR6715A, MIR6715B, MIR9851, MKI67, MMP21, MTG1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RGS10, SCART1, SEC23IP, SFXN4, SHTN1, SLC18A2, SLC18A2-AS1, SNORA19, SNORA87, SNORD158, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, WDR11-DT, ZDHHC6, ZNF511, ZRANB1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057507
6.
GRCh37:
Chr10:119626076-135367714
GRCh38:
Chr10:117866565-133554210
ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, BAG3, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, CACUL1, CALY, CASC2, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FOXI2, FUOM, GLRX3, GPR26, GRK5, GRK5-IT1, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02641, LINC02667, LINC02870, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110121344, LOC110121396, LOC110121444, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC112577516, LOC113939915, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR378C, MIR3941, MIR3944, MIR4296, MIR4297, MIR4484, MIR4681, MIR4682, MKI67, MMP21, MTG1, NANOS1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PLPP4, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RGS10, SCART1, SEC23IP, SFXN4, SNORA19, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TEX36, TEX36-AS1, TIAL1, TUBGCP2, UROS, UTF1, VENTX, WDR11, WDR11-DT, ZNF511, ZRANB1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059728
7.
GRCh37:
Chr10:121467368-135427143
GRCh38:
Chr10:119707856-133613639
See casesPathogenic
(Aug 19, 2013)
no assertion criteria providedVCV000153718
8.
GRCh37:
Chr10:122213942-135434178
GRCh38:
Chr10:120454430-133620674
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057403
9.
GRCh37:
Chr10:122730071-135436092
GRCh38:
Chr10:120970558-133622588
See casesPathogenic
(Aug 27, 2012)
no assertion criteria providedVCV000150499
10.
GRCh37:
Chr10:123348506-135434178
GRCh38:
Chr10:121588992-133620674
See casesPathogenic
(Aug 18, 2010)
no assertion criteria providedVCV000154374
11.
GRCh37:
Chr10:123678062-135434178
GRCh38:
Chr10:121918547-133620674
See casesPathogenic
(Sep 16, 2011)
no assertion criteria providedVCV000154670
12.
GRCh37:
Chr10:124024767-135434178
GRCh38:
Chr10:122265252-133620674
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057376
13.
GRCh37:
Chr10:124586259-128419517
GRCh38:
Chr10:122826743-126730948
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058820
14.
GRCh37:
Chr10:124640723-135434113
GRCh38:
Chr10:122881207-133620609
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000149417
15.
GRCh37:
Chr10:124732812-130008555
GRCh38:
Chr10:122973296-128210291
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058821
16.
GRCh37:
Chr10:125067351-135434178
GRCh38:
Chr10:123307835-133620674
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057447
17.
GRCh37:
Chr10:125335909-135427143
GRCh38:
Chr10:123576393-133613639
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155477
18.
GRCh37:
Chr10:125339836-135372492
GRCh38:
Chr10:123580320-133558988
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058822
19.
GRCh37:
Chr10:125746288-135427143
GRCh38:
Chr10:123986772-133613639
See casesPathogenic
(Oct 22, 2013)
no assertion criteria providedVCV000155556
20.
GRCh37:
Chr10:125792404-129167091
GRCh38:
Chr10:124032888-127368827
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000147735
21.
GRCh37:
Chr10:126085950
GRCh38:
Chr10:124397381
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299161
22.
GRCh37:
Chr10:126085976
GRCh38:
Chr10:124397407
OATOrnithine aminotransferase deficiencyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000299162
23.
GRCh37:
Chr10:126086025
GRCh38:
Chr10:124397456
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879095
24.
GRCh37:
Chr10:126086133
GRCh38:
Chr10:124397564
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299163
25.
GRCh37:
Chr10:126086200
GRCh38:
Chr10:124397631
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880312
26.
GRCh37:
Chr10:126086236
GRCh38:
Chr10:124397667
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299164
27.
GRCh37:
Chr10:126086322
GRCh38:
Chr10:124397753
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299165
28.
GRCh37:
Chr10:126086326
GRCh38:
Chr10:124397757
OATnot provided, Ornithine aminotransferase deficiencyBenign
(Aug 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000299166
29.
GRCh37:
Chr10:126086450
GRCh38:
Chr10:124397881
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880313
30.
GRCh37:
Chr10:126086476
GRCh38:
Chr10:124397907
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000299167
31.
GRCh37:
Chr10:126086491-126100760
GRCh38:
Chr10:124397922-124412191
OATOrnithine aminotransferase deficiencyUncertain significance
(Nov 2, 2018)
criteria provided, single submitterVCV000653512
32.
GRCh37:
Chr10:126086520
GRCh38:
Chr10:124397951
OATL299F, L437F, L237F, L330Fnot provided, Ornithine aminotransferase deficiencyConflicting interpretations of pathogenicity
(Nov 26, 2020)
criteria provided, conflicting interpretationsVCV000056116
33.
GRCh37:
Chr10:126086520
GRCh38:
Chr10:124397951
OATL437F, L299F, L330F, L237FOrnithine aminotransferase deficiencyBenign
(Feb 15, 1992)
no assertion criteria providedVCV000000158
34.
GRCh37:
Chr10:126086524
GRCh38:
Chr10:124397955
OATI298N, I436N, I236N, I329NOrnithine aminotransferase deficiencyLikely pathogenicno assertion criteria providedVCV000056115
35.
GRCh37:
Chr10:126086526
GRCh38:
Chr10:124397957
OATOrnithine aminotransferase deficiencyLikely benign
(Aug 24, 2019)
criteria provided, single submitterVCV001135809
36.
GRCh37:
Chr10:126086526
GRCh38:
Chr10:124397957
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 15, 2020)
criteria provided, single submitterVCV000763347
37.
GRCh37:
Chr10:126086540
GRCh38:
Chr10:124397971
OATI231V, I293V, I324V, I431VOrnithine aminotransferase deficiencyUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV001058895
38.
GRCh37:
Chr10:126086545
GRCh38:
Chr10:124397976
OATI229T, I291T, I322T, I429TOrnithine aminotransferase deficiencyUncertain significance
(Sep 21, 2020)
criteria provided, single submitterVCV001004427
39.
GRCh37:
Chr10:126086550
GRCh38:
Chr10:124397981
OATnot provided, Ornithine aminotransferase deficiencyLikely benign
(May 21, 2020)
criteria provided, single submitterVCV000753263
40.
GRCh37:
Chr10:126086555
GRCh38:
Chr10:124397986
OATR426*, R288*, R226*, R319*Ornithine aminotransferase deficiencyPathogenic
(May 15, 2020)
criteria provided, single submitterVCV000000177
41.
GRCh37:
Chr10:126086570-126086571
GRCh38:
Chr10:124398001-124398002
OATOrnithine aminotransferase deficiencyPathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV001074082
42.
GRCh37:
Chr10:126086570
GRCh38:
Chr10:124398001
OATK221E, K421E, K283E, K314EOrnithine aminotransferase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000880314
43.
GRCh37:
Chr10:126086576
GRCh38:
Chr10:124398007
OATV219L, V281L, V312L, V419LOrnithine aminotransferase deficiencyUncertain significance
(Apr 10, 2020)
no assertion criteria providedVCV000991854
44.
GRCh37:
Chr10:126086580
GRCh38:
Chr10:124398011
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 21, 2020)
criteria provided, single submitterVCV001088800
45.
GRCh37:
Chr10:126086581
GRCh38:
Chr10:124398012
OATP417L, P279L, P310L, P217LOrnithine aminotransferase deficiencyPathogenic
(Jul 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000000157
46.
GRCh37:
Chr10:126086586
GRCh38:
Chr10:124398017
OATOrnithine aminotransferase deficiencyConflicting interpretations of pathogenicity
(Oct 13, 2020)
criteria provided, conflicting interpretationsVCV000877530
47.
GRCh37:
Chr10:126086603
GRCh38:
Chr10:124398034
OATD210N, D272N, D410N, D303NOrnithine aminotransferase deficiencyUncertain significance
(Nov 6, 2018)
criteria provided, single submitterVCV000642889
48.
GRCh37:
Chr10:126086607
GRCh38:
Chr10:124398038
OATnot provided, Ornithine aminotransferase deficiencyConflicting interpretations of pathogenicity
(Nov 17, 2020)
criteria provided, conflicting interpretationsVCV000193571
49.
GRCh37:
Chr10:126086626
GRCh38:
Chr10:124398057
OATL402P, L264P, L295P, L202POrnithine aminotransferase deficiencyPathogenic
(Feb 1, 2018)
no assertion criteria providedVCV000000156
50.
GRCh37:
Chr10:126086630
GRCh38:
Chr10:124398061
OATG401*, G263*, G294*, G201*Ornithine aminotransferase deficiencyPathogenic
(Jun 1, 1992)
no assertion criteria providedVCV000000173
51.
GRCh37:
Chr10:126086639
GRCh38:
Chr10:124398070
OATR398*, R291*, R198*, R260*Ornithine aminotransferase deficiencyPathogenic
(Oct 13, 2016)
criteria provided, single submitterVCV000456519
52.
GRCh37:
Chr10:126086644
GRCh38:
Chr10:124398075
OATR196Q, R258Q, R289Q, R396QOrnithine aminotransferase deficiencyUncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000991855
53.
GRCh37:
Chr10:126086645
GRCh38:
Chr10:124398076
OATR396*, R258*, R196*, R289*not provided, Ornithine aminotransferase deficiencyPathogenic/Likely pathogenic
(Jul 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000000149
54.
GRCh37:
Chr10:126086650
GRCh38:
Chr10:124398081
OATC256Y, C394Y, C194Y, C287YOrnithine aminotransferase deficiencyLikely pathogenicno assertion criteria providedVCV000056114
55.
GRCh37:
Chr10:126086651
GRCh38:
Chr10:124398082
OATC394R, C256R, C287R, C194ROrnithine aminotransferase deficiencyPathogenic
(Jun 1, 1992)
no assertion criteria providedVCV000000172
56.
GRCh37:
Chr10:126086659
GRCh38:
Chr10:124398090
OATW391*, W253*, W284*, W191*Ornithine aminotransferase deficiencyPathogenic/Likely pathogenic
(Jun 1, 1992)
no assertion criteria providedVCV000000171
57.
GRCh37:
Chr10:126086677
GRCh38:
Chr10:124398108
OATOrnithine aminotransferase deficiencyLikely benign
(Jun 21, 2020)
criteria provided, single submitterVCV001127438
58.
GRCh37:
Chr10:126086684
GRCh38:
Chr10:124398115
OATOrnithine aminotransferase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000299168
59.
GRCh37:
Chr10:126086730
GRCh38:
Chr10:124398161
OATnot provided, Ornithine aminotransferase deficiencyBenign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000683257
60.
GRCh37:
Chr10:126086779
GRCh38:
Chr10:124398210
OATnot providedBenign
(Jan 6, 2021)
criteria provided, single submitterVCV001278539
61.
GRCh37:
Chr10:126089151
GRCh38:
Chr10:124400582
OATnot providedBenign
(Aug 7, 2018)
criteria provided, single submitterVCV001275165
62.
GRCh37:
Chr10:126089194
GRCh38:
Chr10:124400625
OATnot providedBenign
(Aug 7, 2018)
criteria provided, single submitterVCV001236578
63.
GRCh37:
Chr10:126089275
GRCh38:
Chr10:124400706
OATnot providedBenign
(Aug 15, 2018)
criteria provided, single submitterVCV001261209
64.
GRCh37:
Chr10:126089294
GRCh38:
Chr10:124400725
OATnot providedBenign
(Aug 7, 2018)
criteria provided, single submitterVCV001279117
65.
GRCh37:
Chr10:126089399
GRCh38:
Chr10:124400830
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 29, 2019)
criteria provided, single submitterVCV001161386
66.
GRCh37:
Chr10:126089413
GRCh38:
Chr10:124400844
OATOrnithine aminotransferase deficiencyLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001097572
67.
GRCh37:
Chr10:126089418
GRCh38:
Chr10:124400849
OATE184*, E246*, E277*, E384*Ornithine aminotransferase deficiencyPathogenic
(Jul 9, 2020)
criteria provided, single submitterVCV001075483
68.
GRCh37:
Chr10:126089430
GRCh38:
Chr10:124400861
OATI180V, I242V, I380V, I273VOrnithine aminotransferase deficiencyLikely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000705667
69.
GRCh37:
Chr10:126089431
GRCh38:
Chr10:124400862
OATOrnithine aminotransferase deficiencyLikely benign
(Jan 20, 2020)
criteria provided, single submitterVCV001159630
70.
GRCh37:
Chr10:126089431
GRCh38:
Chr10:124400862
OATOrnithine aminotransferase deficiency, not providedLikely benign
(Oct 3, 2018)
criteria provided, single submitterVCV000703630
71.
GRCh37:
Chr10:126089434
GRCh38:
Chr10:124400865
OATnot specified, Ornithine aminotransferase deficiency, not provided
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000000161
72.
GRCh37:
Chr10:126089442
GRCh38:
Chr10:124400873
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 29, 2019)
criteria provided, single submitterVCV001141456
73.
GRCh37:
Chr10:126089443
GRCh38:
Chr10:124400874
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV000726976
74.
GRCh37:
Chr10:126089444
GRCh38:
Chr10:124400875
OATG375A, G237A, G268A, G175ARetinal dystrophy, Ornithine aminotransferase deficiencyLikely pathogenic
(Apr 20, 2018)
criteria provided, single submitterVCV000000159
75.
GRCh37:
Chr10:126089450
GRCh38:
Chr10:124400881
OATG235E, G373E, G173E, G266EOrnithine aminotransferase deficiencyLikely pathogenicno assertion criteria providedVCV000056112
76.
GRCh37:
Chr10:126089455
GRCh38:
Chr10:124400886
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001081275
77.
GRCh37:
Chr10:126089458
GRCh38:
Chr10:124400889
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 16, 2020)
criteria provided, single submitterVCV001080234
78.
GRCh37:
Chr10:126089479
GRCh38:
Chr10:124400910
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 23, 2020)
criteria provided, single submitterVCV001139745
79.
GRCh37:
Chr10:126089490
GRCh38:
Chr10:124400921
OATL360fs, L222fs, L160fs, L253fsOrnithine aminotransferase deficiencyPathogenic
(Jul 11, 2019)
criteria provided, single submitterVCV000954106
80.
GRCh37:
Chr10:126089491
GRCh38:
Chr10:124400922
OATOrnithine aminotransferase deficiencyLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001080112
81.
GRCh37:
Chr10:126089500
GRCh38:
Chr10:124400931
OATL156F, L218F, L249F, L356FOrnithine aminotransferase deficiencyUncertain significance
(Aug 6, 2020)
no assertion criteria providedVCV000991856
82.
GRCh37:
Chr10:126089510
GRCh38:
Chr10:124400941
OATG353D, G215D, G153D, G246DOrnithine aminotransferase deficiency, not providedPathogenic
(Oct 1, 2018)
criteria provided, single submitterVCV000000170
83.
GRCh37:
Chr10:126089512
GRCh38:
Chr10:124400943
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 11, 2020)
criteria provided, single submitterVCV001110533
84.
GRCh37:
Chr10:126089533
GRCh38:
Chr10:124400964
OATOrnithine aminotransferase deficiencyLikely benign
(Aug 20, 2020)
criteria provided, single submitterVCV001108151
85.
GRCh37:
Chr10:126089537
GRCh38:
Chr10:124400968
OATN144fs, N237fs, N206fs, N344fsOrnithine aminotransferase deficiencyLikely pathogenicno assertion criteria providedVCV000056111
86.
GRCh37:
Chr10:126089541
GRCh38:
Chr10:124400972
OATE205Q, E236Q, E343Q, E143QOrnithine aminotransferase deficiencyUncertain significance
(Sep 18, 2020)
criteria provided, single submitterVCV001043955
87.
GRCh37:
Chr10:126089557
GRCh38:
Chr10:124400988
OATOrnithine aminotransferase deficiencyLikely benign
(Oct 1, 2020)
criteria provided, single submitterVCV001097701
88.
GRCh37:
Chr10:126089558
GRCh38:
Chr10:124400989
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 23, 2020)
criteria provided, single submitterVCV000739532
89.
GRCh37:
Chr10:126089559
GRCh38:
Chr10:124400990
OATOrnithine aminotransferase deficiency, not providedLikely benign
(Sep 19, 2018)
criteria provided, single submitterVCV000753359
90.
GRCh37:
Chr10:126089559
GRCh38:
Chr10:124400990
OATOrnithine aminotransferase deficiencyConflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000702374
91.
GRCh37:
Chr10:126089656
GRCh38:
Chr10:124401087
OATnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000683256
92.
GRCh37:
Chr10:126089703
GRCh38:
Chr10:124401134
OATnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000683255
93.
GRCh37:
Chr10:126090285
GRCh38:
Chr10:124401716
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 15, 2020)
criteria provided, single submitterVCV001094750
94.
GRCh37:
Chr10:126090294
GRCh38:
Chr10:124401725
OATRetinal dystrophyLikely pathogenic
(May 2, 2017)
criteria provided, single submitterVCV000866435
95.
GRCh37:
Chr10:126090304
GRCh38:
Chr10:124401735
OATOrnithine aminotransferase deficiencyLikely benign
(Jan 20, 2020)
criteria provided, single submitterVCV001159631
96.
GRCh37:
Chr10:126090306
GRCh38:
Chr10:124401737
OATA335S, A135S, A197S, A228SOrnithine aminotransferase deficiencyUncertain significance
(Jul 30, 2020)
criteria provided, single submitterVCV001038480
97.
GRCh37:
Chr10:126090307
GRCh38:
Chr10:124401738
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001078917
98.
GRCh37:
Chr10:126090312
GRCh38:
Chr10:124401743
OATA133T, A195T, A226T, A333TOrnithine aminotransferase deficiencyUncertain significance
(May 6, 2020)
criteria provided, single submitterVCV001008691
99.
GRCh37:
Chr10:126090313
GRCh38:
Chr10:124401744
OATOrnithine aminotransferase deficiencyLikely benign
(Nov 27, 2020)
criteria provided, single submitterVCV001161469
100.
GRCh37:
Chr10:126090315
GRCh38:
Chr10:124401746
OATV332M, V194M, V225M, V132MGyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia, Ornithine aminotransferase deficiencyPathogenic/Likely pathogenic
(Nov 1, 1993)
no assertion criteria providedVCV000000162
Format
Items per page
Sort by

Download:

Choose Destination
Support Center