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Items: 45

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:4646926-47531169
GRCh38:
Chr10:4604734-48074662
ABI1, ACBD5, ACBD7, ACBD7-DCLRE1CP1, AGAP10, AGAP4, AGAP9, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANTXRL, ANXA8, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BEND7-DT, BMI1, BMS1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DNAJC1, EBLN1, ECHDC3, ENKUR, EPC1, EPC1-AS1, FAM107B, FAM171A1, FAM238A, FAM238B, FAM238C, FAM245B, FAM25C, FAM25E, FAM25G, FBH1, FRMD4A, FXYD4, FZD8, GAD2, GATA3, GATA3-AS1, GDF10, GDF2, GDI2, GJD4, GPR158, GPR158-AS1, GPRIN2, HACD1, HNRNPF, HSPA14, IATPR, IL15RA, IL2RA, ITGA8, ITGB1, ITGB1-DT, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, LASTR, LINC00619, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC00837, LINC00838, LINC00839, LINC00840, LINC00841, LINC00842, LINC00993, LINC00999, LINC01264, LINC01516, LINC01517, LINC01518, LINC01552, LINC02561, LINC02623, LINC02628, LINC02629, LINC02630, LINC02634, LINC02637, LINC02642, LINC02643, LINC02644, LINC02648, LINC02649, LINC02652, LINC02654, LINC02656, LINC02658, LINC02659, LINC02664, LINC02665, LINC02670, LINC02673, LINC02676, LINC02677, LINC02678, LINC02881, LINP1, LOC100130992, LOC100421372, LOC100499489, LOC100505502, LOC101927699, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101929117, LOC101929279, LOC101929431, LOC102724323, LOC102724488, LOC102724593, LOC105376398, LOC105376430, LOC105378269, LOC105378292, LOC105378577, LOC106736614, LOC106783505, LOC106783576, LOC107001062, LOC107275222, LOC107275223, LOC107275226, LOC108004524, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121348, LOC110121355, LOC110121399, LOC110121405, LOC110121406, LOC110121476, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111464994, LOC111501766, LOC111589212, LOC111818964, LOC111818965, LOC111818966, LOC111818967, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946232, LOC111946234, LOC111946236, LOC111946237, LOC111946238, LOC111946239, LOC111946241, LOC111946242, LOC111946244, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC114827857, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC283028, LYZL1, LYZL2, MACORIS, MALRD1, MANCR, MAP3K8, MARCHF8, MASTL, MCM10, MCS+9.7, MEIG1, MINDY3, MIR1254-2, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR3156-1, MIR3611, MIR4293, MIR4480, MIR4481, MIR4675, MIR4683, MIR5100, MIR511, MIR548AK, MIR548Q, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MRC1, MSMB, MSRB2, MTPAP, MTRNR2L7, MYO3A, NCOA4, NEBL, NEBL-AS1, NET1, NMT2, NPY4R, NPY4R2, NRP1, NSUN6, NUDT5, ODAD2, OLAH, OPTN, OR13A1, OTUD1, PARD3, PARD3-DT, PCAT5, PDSS1, PFKFB3, PHYH, PIP4K2A, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, PTPN20, RAB18, RASGEF1A, RASSF4, RBM17, RBP3, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORA74C-1, SNORA86, SNORD129, SNORD130, SNORD3J, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SVIL, SVIL-AS1, SYT15, TAF3, TASOR2, THNSL1, TIMM23, TMEM236, TMEM72, TMEM72-AS1, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WAC, WAC-AS1, WASHC2C, YME1L1, ZEB1, ZEB1-AS1, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488
See casesBenign
(Feb 4, 2013)
no assertion criteria providedVCV000152998
2.
GRCh37:
Chr10:19377090-33021221
GRCh38:
Chr10:19088161-32732293
See casesLikely pathogenic
(Aug 14, 2012)
no assertion criteria providedVCV000150600
3.
GRCh37:
Chr10:31608166
GRCh38:
Chr10:31319237
ZEB1, ZEB1-AS1M1Inot providedPathogenic
(Apr 20, 2016)
criteria provided, single submitterVCV000488897
4.
GRCh37:
Chr10:31750007-31750009
GRCh38:
Chr10:31461078-31461080
ZEB1D18del, D35del, D21delnot providedBenign
(Oct 29, 2019)
criteria provided, single submitterVCV000785316
5.
GRCh37:
Chr10:31750140
GRCh38:
Chr10:31461211
ZEB1N78T, N61T, N64Tnot provided, Corneal dystrophy, Fuchs endothelial, 6Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000012633
6.
GRCh37:
Chr10:31757018-31911753
GRCh38:
Chr10:31468089-31622825
LOC121366049, ZEB1See casesLikely benign
(Sep 27, 2013)
no assertion criteria providedVCV000155342
7.
GRCh37:
Chr10:31799608
GRCh38:
Chr10:31510680
ZEB1not providedLikely benign
(Jun 4, 2018)
criteria provided, single submitterVCV000742402
8.
GRCh37:
Chr10:31799620
GRCh38:
Chr10:31510692
ZEB1Q148fs, Q94fs, Q101fs, Q154fs, Q168fs, Q151fs, Q155fs, Q169fs, Q152fs, Q77fs, Q80fsCorneal dystrophy, Fuchs endothelial, 6Likely pathogenic
(Oct 16, 2018)
criteria provided, single submitterVCV001032236
9.
GRCh37:
Chr10:31799722
GRCh38:
Chr10:31510794
ZEB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000788562
10.
GRCh37:
Chr10:31799738-31799739
GRCh38:
Chr10:31510810-31510811
ZEB1Y116*, Y119*, Y133*, Y140*, Y187*, Y190*, Y191*, Y193*, Y194*, Y207*, Y208*Posterior polymorphous corneal dystrophy 3Likely pathogenic
(Oct 1, 2021)
criteria provided, single submitterVCV001300210
11.
GRCh37:
Chr10:31799813
GRCh38:
Chr10:31510885
ZEB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000716804
12.
GRCh37:
Chr10:31803530
GRCh38:
Chr10:31514602
ZEB1Posterior polymorphous corneal dystrophy 3Likely pathogenic
(Oct 1, 2021)
criteria provided, single submitterVCV001300211
13.
GRCh37:
Chr10:31803635
GRCh38:
Chr10:31514707
ZEB1not providedLikely benign
(Oct 10, 2018)
criteria provided, single submitterVCV000715018
14.
GRCh37:
Chr10:31809236
GRCh38:
Chr10:31520308
ZEB1R325*, R237*, R305*, R311*, R251*, R309*, R234*, R107*, R258*, R308*, R312*, R326*Polymorphous corneal dystrophy, Visual loss, Glaucoma,
not provided
Pathogenic
(Apr 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000374184
15.
GRCh37:
Chr10:31809258
GRCh38:
Chr10:31520330
ZEB1I114T, I241T, I244T, I258T, I265T, I312T, I315T, I316T, I318T, I319T, I332T, I333Tnot providedUncertain significance
(Aug 1, 2021)
criteria provided, single submitterVCV001298478
16.
GRCh37:
Chr10:31809520
GRCh38:
Chr10:31520592
ZEB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000788563
17.
GRCh37:
Chr10:31809591-31809594
GRCh38:
Chr10:31520663-31520666
ZEB1I424fs, I427fs, I428fs, I430fs, I444fs, I356fs, I370fs, I377fs, I226fs, I353fs, I431fs, I445fsnot providedPathogenic
(Feb 5, 2018)
criteria provided, single submitterVCV000503716
18.
GRCh37:
Chr10:31809611
GRCh38:
Chr10:31520683
ZEB1Q232*, Q359*, Q362*, Q376*, Q383*, Q430*, Q433*, Q434*, Q436*, Q437*, Q450*, Q451*Posterior polymorphous corneal dystrophy 3Pathogenic
(Nov 1, 2005)
no assertion criteria providedVCV000012632
19.
GRCh37:
Chr10:31809832-31809833
GRCh38:
Chr10:31520904-31520905
ZEB1V438fs, V506fs, V435fs, V459fs, V527fs, V509fs, V308fs, V510fs, V452fs, V512fs, V513fs, V526fsCorneal dystrophyPathogenic
(Jul 5, 2016)
criteria provided, single submitterVCV000437319
20.
GRCh37:
Chr10:31809921
GRCh38:
Chr10:31520993
ZEB1K533R, K553R, K335R, K479R, K486R, K536R, K537R, K554R, K462R, K465R, K539R, K540Rnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000788564
21.
GRCh37:
Chr10:31809956
GRCh38:
Chr10:31521028
ZEB1E498*, E545*, E565*, E566*, E477*, E491*, E347*, E474*, E548*, E549*, E551*, E552*not providedPathogenic
(Mar 15, 2019)
criteria provided, single submitterVCV000817540
22.
GRCh37:
Chr10:31809967
GRCh38:
Chr10:31521039
ZEB1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000743238
23.
GRCh37:
Chr10:31810237
GRCh38:
Chr10:31521309
ZEB1N440K, N570K, N591K, N644K, N642K, N645K, N658K, N567K, N584K, N638K, N641K, N659Knot providedLikely benign
(May 31, 2018)
criteria provided, single submitterVCV000715019
24.
GRCh37:
Chr10:31810324
GRCh38:
Chr10:31521396
ZEB1not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000790080
25.
GRCh37:
Chr10:31810514
GRCh38:
Chr10:31521586
ZEB1T677A, T734A, T738A, T751A, T533A, T660A, T663A, T684A, T737A, T731A, T735A, T752Anot providedLikely benign
(Nov 16, 2018)
criteria provided, single submitterVCV000731047
26.
GRCh37:
Chr10:31810597
GRCh38:
Chr10:31521669
ZEB1not providedLikely benign
(Aug 13, 2018)
criteria provided, single submitterVCV000762298
27.
GRCh37:
Chr10:31810674
GRCh38:
Chr10:31521746
ZEB1I737T, I788T, I790T, I805T, I713T, I784T, I804T, I586T, I787T, I791T, I716T, I730Tnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000709250
28.
GRCh37:
Chr10:31810679
GRCh38:
Chr10:31521751
ZEB1T718A, T739A, T588A, T792A, T793A, T806A, T789A, T790A, T715A, T732A, T786A, T807Anot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000715880
29.
GRCh37:
Chr10:31810705
GRCh38:
Chr10:31521777
ZEB1not providedLikely benign
(Apr 12, 2018)
criteria provided, single submitterVCV000724551
30.
GRCh37:
Chr10:31810782
GRCh38:
Chr10:31521854
ZEB1Q840P, Q749P, Q766P, Q773P, Q823P, Q826P, Q752P, Q824P, Q622P, Q827P, Q841P, Q820PCorneal dystrophy, Fuchs endothelial, 6Uncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000012634
31.
GRCh37:
Chr10:31810823
GRCh38:
Chr10:31521895
ZEB1Q763K, Q787K, Q840K, Q841K, Q780K, Q834K, Q837K, Q855K, Q636K, Q766K, Q838K, Q854Knot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000790081
32.
GRCh37:
Chr10:31812932
GRCh38:
Chr10:31524004
ZEB1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000728757
33.
GRCh37:
Chr10:31815656-31815659
GRCh38:
Chr10:31526728-31526731
ZEB1I730fs, I857fs, I874fs, I934fs, I948fs, I860fs, I935fs, I881fs, I931fs, I928fs, I932fs, I949fsnot providedUncertain significance
(Aug 4, 2015)
criteria provided, single submitterVCV000281451
34.
GRCh37:
Chr10:31815733-31815734
GRCh38:
Chr10:31526805-31526806
ZEB1G906fs, G882fs, G885fs, G960fs, G974fs, G755fs, G953fs, G959fs, G973fs, G899fs, G956fs, G957fsPosterior polymorphous corneal dystrophy 3Pathogenic
(Nov 1, 2005)
no assertion criteria providedVCV000012631
35.
GRCh37:
Chr10:31816010-31816012
GRCh38:
Chr10:31527082-31527084
ZEB1E1071del, E1072del, E853del, E980del, E1051del, E1054del, E1055del, E1057del, E983del, E997del, E1004del, E1058delnot providedBenign
(Oct 10, 2018)
criteria provided, single submitterVCV000715020
36.
GRCh37:
Chr10:31548044-32172367
ZEB1, ARHGAP12not providedUncertain significance
(Feb 19, 2019)
no assertion criteria providedVCV000815329
37.
GRCh37:
Chr10:98087-135477883
CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MK, ZNF503, AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUSP29, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520, ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ODAD2, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FHIP2A, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000612829
38.
GRCh37:
Chr10:73232-135524321
CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, JCAD, GPAM, SHTN1, FHIP2A, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MK, ZNF503, AIFM2, ADO, FBH1, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, LINC02870, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, FAM241B, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCHF8, ZNF22-AS1, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, RPP38-DT, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUSP29, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, TUBB8, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, MIR1915HG, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, DENND10, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520, ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5F1C, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, OGA, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIFBP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, SHLD2, DDIT4, CCNJ, MARCHF5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, TASOR2, CCDC186, CRTAC1, ODAD2, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, MACROH2A2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000612828
39.
GRCh37:
Chr10:31425682-32599180
KIF5B, ZEB1, EPC1, ARHGAP12not providedPathogenic
(Aug 18, 2017)
no assertion criteria providedVCV000563765
40.
GRCh37:
Chr10:31703182-31766281
ZEB1not providedUncertain significance
(May 29, 2018)
no assertion criteria providedVCV000563696
41.
GRCh37:
Chr10:31731244-31781694
ZEB1See casesUncertain significance
(Jul 6, 2015)
no assertion criteria providedVCV000443467
42.
GRCh37:
Chr10:100026-50961640
HACD1, HNRNPF, HSPA14, IDI1, IDI2, IL15RA, IL2RA, ITGA8, ITGB1, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, KLF6, LARP4B, LRRC18, LYZL1, LYZL2, MAP3K8, MAPK8, MARCHF8, MASTL, MCM10, MEIG1, MINDY3, MIR1915, MIR1915HG, MKX, MLLT10, MPP7, MSRB2, MTPAP, MTRNR2L7, MYO3A, NEBL, NET1, NMT2, NPY4R, NRP1, NSUN6, NUDT5, ODAD2, OGDHL, OLAH, OPTN, OR13A1, OTUD1, PARD3, PDSS1, PFKFB3, PFKP, PGBD3, PHYH, PIP4K2A, PITRM1, PLXDC2, PRINS, PRKCQ, PROSER2, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, PTPN20, RAB18, RASGEF1A, RASSF4, RBM17, RBP3, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC18A3, SLC39A12, SPAG6, ST8SIA6, STAM, SUV39H2, SVIL, SYT15, TAF3, TASOR2, THNSL1, TMEM273, TMEM72, TRDMT1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, VIM, VSTM4, ZFAND4, WAC, WASHC2C, WDFY4, WDR37, YME1L1, ZEB1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485, ZNF488, ABI1, ACBD5, ACBD7, ADARB2, AGAP10, AGAP4, AGAP9, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANXA8, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARHGAP22, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BMI1, BMS1, C10orf113, C10orf126, C10orf53, C10orf67, C10orf71, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CDC123, CDNF, CELF2, CHAT, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DIP2C, DNAJC1, DRGX, EBLN1, ECHDC3, ENKUR, EPC1, ERCC6, FAM107B, FAM170B, FAM171A1, FAM25C, FAM25E, FAM25G, FBH1, FRMD4A, FRMPD2, FXYD4, FZD8, GAD2, GATA3, GDF10, GDF2, GDI2, GJD4, GPR158, GPRIN2, GTPBP4
See casesPathogenic
(Jun 3, 2014)
no assertion criteria providedVCV000443260
43.
GRCh37:
Chr10:100027-135427143
SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT, A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C10orf99, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441987
44.
GRCh37:
Chr10:100027-135427143
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C10orf99, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC29A3, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000441986
45.
GRCh37:
Chr10:93297-135378918
AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, CFAP46, CNNM1, CNNM2, COL13A1, CHAT, CHCHD1, CHST15, CFAP58, CHST3, CFAP70, CH25H, ARHGAP21, ARHGAP22, ANKRD16, APBB1IP, ARHGAP12, ARHGAP19, ANK3, ANKRD1, CHUK, CISD1, CLRN3, ANAPC16, COL17A1, ANKRD2, ANKRD22, AP3M1, A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C10orf99, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBB8, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT
See casesPathogenicno assertion criteria providedVCV000393995
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