U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 98

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ACKR1, ADAM15, ADAM15-EFNA4, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FLJ23867, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC106627981, LOC106627982, LOC107880064, LOC108251792, LOC108254671, LOC108281190, LOC110013312, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC110121221, LOC110121262, LOC111464988, LOC111556138, LOC111828496, LOC112543491, LOC112577492, LOC112577493, LOC112577494, LOC112577495, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801442, LOC115801443, LOC115801444, LOC115801445, LOC115801446, LOC115801447, LOC115801448, LOC115801449, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893159, LOC120893160, LOC120893161, LOC120893162, LOC120893163, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725054, LOC121725055, LOC121725056, LOC121725058, LOC121725059, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128421, LOC122128422, LOC122128423, LOC122128424, LOC122128425, LOC122128426, LOC122128427, LOC122128428, LOC122128429, LOC122128430, LOC122128431, LOC122128432, LOC122128433, LOC122128434, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805855, LOC126805856, LOC126805857, LOC126805858, LOC126805859, LOC126805860, LOC126805861, LOC126805862, LOC126805863, LOC126805864, LOC126805865, LOC126805866, LOC126805867, LOC126805868, LOC126805869, LOC126805870, LOC126805871, LOC126805872, LOC126805873, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC127814295, LOC128071543, LOC128772199, LOC128772200, LOC128772201, LOC128772202, LOC128772203, LOC128772204, LOC128772205, LOC128772206, LOC128772207, LOC128772208, LOC128772209, LOC128772210, LOC128772211, LOC128772212, LOC128772213, LOC128772214, LOC128772215, LOC128772216, LOC128772217, LOC128772218, LOC128772219, LOC128772220, LOC128772221, LOC128772222, LOC128772223, LOC128772224, LOC128772225, LOC128772226, LOC128772227, LOC128772228, LOC128772229, LOC128772230, LOC128772231, LOC128779115, LOC128781584, LOC128822934, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
2.
GRCh37:
Chr1:149895185
GRCh38:
Chr1:149923293
SF3B4not providedBenign
(Mar 6, 2019)
criteria provided, single submitter
3.
GRCh37:
Chr1:149895451-149895457
GRCh38:
Chr1:149923559-149923565
SF3B4L418fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
4.
GRCh37:
Chr1:149895460-149895479
GRCh38:
Chr1:149923568-149923587
SF3B4P411fsMicrognathia, Stenosis of the external auditory canal, Midface retrusion,
Malar flattening, Nager syndrome
Pathogenic
(Mar 15, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:149895477
GRCh38:
Chr1:149923585
SF3B4P411fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
6.
GRCh37:
Chr1:149895510
GRCh38:
Chr1:149923618
SF3B4P400fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
7.
GRCh37:
Chr1:149895541
GRCh38:
Chr1:149923649
SF3B4R390*not providedLikely pathogenic
(Jan 6, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr1:149895546
GRCh38:
Chr1:149923654
SF3B4P388fsInborn genetic diseasesPathogenic
(Mar 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:149895549-149895550
GRCh38:
Chr1:149923657-149923658
SF3B4G387fsnot providedPathogenic
(Aug 17, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr1:149895560-149895561
GRCh38:
Chr1:149923668-149923669
SF3B4H383fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
11.
GRCh37:
Chr1:149895561-149895562
GRCh38:
Chr1:149923669-149923670
SF3B4H383fsnot specified, Inborn genetic diseasesConflicting interpretations of pathogenicity
(May 4, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr1:149895562
GRCh38:
Chr1:149923670
SF3B4H383fsInborn genetic diseases, not providedPathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:149895624
GRCh38:
Chr1:149923732
SF3B4not specifiedUncertain significance
(Jun 29, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr1:149895759-149895760
GRCh38:
Chr1:149923867-149923868
SF3B4R354fsnot specifiedBenign
(May 4, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:149895762
GRCh38:
Chr1:149923870
SF3B4P353Hnot specified, not providedConflicting interpretations of pathogenicity
(Nov 19, 2018)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr1:149895780
GRCh38:
Chr1:149923888
SF3B4P347Lnot providedLikely benign
(Sep 1, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr1:149895814
GRCh38:
Chr1:149923922
SF3B4R336*not providedPathogenic
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:149895825
GRCh38:
Chr1:149923933
SF3B4Q332PInborn genetic diseasesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr1:149895835
GRCh38:
Chr1:149923943
SF3B4S329PInborn genetic diseases, not providedBenign/Likely benign
(Jun 5, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:149895842
GRCh38:
Chr1:149923950
SF3B4not providedBenign
(Jun 26, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:149895851
GRCh38:
Chr1:149923959
SF3B4not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr1:149895905
GRCh38:
Chr1:149924013
SF3B4not providedBenign
(Apr 27, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr1:149895910
GRCh38:
Chr1:149924018
SF3B4not providedBenign
(Sep 24, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:149897528
GRCh38:
Chr1:149925636
SF3B4not providedBenign
(Mar 6, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr1:149897628-149897633
GRCh38:
Chr1:149925736-149925741
SF3B4not providedBenign
(Sep 8, 2020)
criteria provided, single submitter
26.
GRCh37:
Chr1:149897727
GRCh38:
Chr1:149925835
SF3B4Nager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
27.
GRCh37:
Chr1:149897748
GRCh38:
Chr1:149925856
SF3B4P298Lnot providedLikely benign
(Mar 21, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:149897777
GRCh38:
Chr1:149925885
SF3B4H288fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
29.
GRCh37:
Chr1:149897778
GRCh38:
Chr1:149925886
SF3B4H288RNager syndromeUncertain significance
(Oct 8, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr1:149897804-149897805
GRCh38:
Chr1:149925912-149925913
SF3B4T280fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
31.
GRCh37:
Chr1:149897813
GRCh38:
Chr1:149925921
SF3B4not providedLikely benign
(May 19, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr1:149897813-149897814
GRCh38:
Chr1:149925921-149925922
SF3B4S277fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
33.
GRCh37:
Chr1:149897814
GRCh38:
Chr1:149925922
SF3B4P276fsHereditary hearing loss and deafness, not providedPathogenic
(Aug 24, 2017)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:149897830
GRCh38:
Chr1:149925938
SF3B4A271fsnot providedPathogenic
(Feb 23, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:149897844-149897845
GRCh38:
Chr1:149925952-149925953
SF3B4M266fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
36.
GRCh37:
Chr1:149897851
GRCh38:
Chr1:149925959
SF3B4P264Tnot providedUncertain significance
(Sep 6, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr1:149897860-149897878
GRCh38:
Chr1:149925968-149925986
SF3B4P255fsNager syndromePathogenic
(Mar 10, 2021)
no assertion criteria provided
38.
GRCh37:
Chr1:149897872
GRCh38:
Chr1:149925980
SF3B4I257fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
39.
GRCh37:
Chr1:149897892
GRCh38:
Chr1:149926000
SF3B4P250fsnot providedLikely pathogenic
(Dec 1, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr1:149897897
GRCh38:
Chr1:149926005
SF3B4not specifiedUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr1:149897898-149897910
GRCh38:
Chr1:149926006-149926018
SF3B4P244fsNager syndromePathogenic
(Aug 6, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr1:149897906
GRCh38:
Chr1:149926014
SF3B4Nager syndrome, not providedBenign/Likely benign
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:149897909
GRCh38:
Chr1:149926017
SF3B4not specifiedUncertain significance
(Jun 26, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr1:149897925
GRCh38:
Chr1:149926033
SF3B4P239LNager syndromeUncertain significance
(Jun 17, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr1:149897934
GRCh38:
Chr1:149926042
SF3B4G236VInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:149897942
GRCh38:
Chr1:149926050
SF3B4not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr1:149897966
GRCh38:
Chr1:149926074
SF3B4not providedBenign
(Nov 22, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr1:149898070
GRCh38:
Chr1:149926178
SF3B4not providedBenign
(Oct 26, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr1:149898292
GRCh38:
Chr1:149926400
SF3B4not specified, not providedBenign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr1:149898309-149898310
GRCh38:
Chr1:149926417-149926418
SF3B4N222fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
51.
GRCh37:
Chr1:149898349
GRCh38:
Chr1:149926457
SF3B4Q209*Nager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
52.
GRCh37:
Chr1:149898355
GRCh38:
Chr1:149926463
SF3B4P207Snot providedUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:149898371
GRCh38:
Chr1:149926479
SF3B4not providedLikely benign
(Feb 4, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:149898372
GRCh38:
Chr1:149926480
SF3B4L201PInborn genetic diseasesUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr1:149898397
GRCh38:
Chr1:149926505
SF3B4R193*not providedPathogenic
(Aug 1, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr1:149898413
GRCh38:
Chr1:149926521
SF3B4not providedBenign
(Aug 31, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:149898419
GRCh38:
Chr1:149926527
SF3B4not providedLikely benign
(Jun 18, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr1:149898431
GRCh38:
Chr1:149926539
SF3B4not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr1:149898439
GRCh38:
Chr1:149926547
SF3B4K179*Inborn genetic diseasesPathogenic
(Feb 7, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr1:149898455
GRCh38:
Chr1:149926563
SF3B4not providedLikely benign
(Oct 27, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:149898499
GRCh38:
Chr1:149926607
SF3B4I159VInborn genetic diseasesUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:149898522
GRCh38:
Chr1:149926630
SF3B4S151*Nager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
63.
GRCh37:
Chr1:149898547
GRCh38:
Chr1:149926655
SF3B4G143SInborn genetic diseasesUncertain significance
(Dec 14, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:149898557
GRCh38:
Chr1:149926665
SF3B4Nager syndromePathogenic
(Jan 16, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr1:149898578
GRCh38:
Chr1:149926686
SF3B4not specifiedLikely benigncriteria provided, single submitter
66.
GRCh37:
Chr1:149898609
GRCh38:
Chr1:149926717
SF3B4A122Vnot providedUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:149898638
GRCh38:
Chr1:149926746
SF3B4not providedLikely benign
(May 29, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr1:149898663
GRCh38:
Chr1:149926771
SF3B4I104Tnot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr1:149898724
GRCh38:
Chr1:149926832
SF3B4I84Vnot providedUncertain significance
(Oct 15, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:149898781
GRCh38:
Chr1:149926889
SF3B4E65*Nager syndromePathogenic
(Nov 25, 2014)
criteria provided, single submitter
71.
GRCh37:
Chr1:149898811
GRCh38:
Chr1:149926919
SF3B4Inborn genetic diseasesLikely pathogenic
(Mar 5, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr1:149898951
GRCh38:
Chr1:149927059
SF3B4not providedBenign
(Nov 27, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr1:149899061
GRCh38:
Chr1:149927169
SF3B4Q54*not providedPathogenic
(May 15, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:149899069
GRCh38:
Chr1:149927177
SF3B4G51VNager syndromeUncertain significance
(Dec 1, 2021)
no assertion criteria provided
75.
GRCh37:
Chr1:149899089
GRCh38:
Chr1:149927197
SF3B4M44fsnot providedPathogenic
(Apr 17, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr1:149899133
GRCh38:
Chr1:149927241
SF3B4W30fsNager syndromePathogenic
(Sep 7, 2012)
no assertion criteria provided
77.
GRCh37:
Chr1:149899175-149899176
GRCh38:
Chr1:149927283-149927284
SF3B4Y16fsNager syndromePathogenic
(Dec 26, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr1:149899187
GRCh38:
Chr1:149927295
SF3B4Nager syndromePathogenic
(Sep 18, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr1:149899389
GRCh38:
Chr1:149927497
SF3B4not providedBenign
(Mar 6, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr1:149899643
GRCh38:
Chr1:149927751
SF3B4not providedLikely benign
(Nov 9, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr1:149899650
GRCh38:
Chr1:149927758
SF3B4M1TNager syndromePathogenic
(Mar 19, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr1:149899651
GRCh38:
Chr1:149927759
SF3B4M1Vnot providedPathogenic
(Sep 23, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:149899767
GRCh38:
Chr1:149927875
SF3B4not providedBenign
(Nov 1, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr1:149899885
GRCh38:
Chr1:149927993
SF3B4not providedBenign
(May 9, 2019)
criteria provided, single submitter
85.
GRCh37:
Chr1:149899913-149899914
GRCh38:
Chr1:149928021-149928022
SF3B4Nager syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr1:149899948
GRCh38:
Chr1:149928056
SF3B4not providedBenign
(Apr 20, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr1:149900264
GRCh38:
Chr1:149928372
SF3B4not providedBenign
(May 9, 2019)
criteria provided, single submitter
88.
GRCh37:
Chr1:149895434-156851434
CELF3, CERS2, CFAP141, CGN, CHRNB2, KHDC4, KPLCE, KPRP, PMF1-BGLAP, PMVK, POGZ, SMCP, SMG5, SNAPIN, CHTOP, CIART, KRTCAP2, LAMTOR2, PRCC, SNX27, SPRR2F, SPRR2G, SPRR3, SPRR1A, SPRR1B, SPRR4, SSR2, SYT11, RHBG, RIIAD1, SPRR2A, SPRR2B, SPRR2D, RIT1, RORC, PRPF3, PRR9, SPRR2E, RFX5, PRUNE1, PSMB4, PSMD4, LCE1F, LCE2A, PYGO2, RAB13, RAB25, LCE2B, LCE2C, LCE1A, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE1B, LCE1C, CTSK, CTSS, DAP3, DCST1, CKS1B, CLK2, LCE1D, LCE1E, DCST2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, ADAM15, ADAMTSL4, ADAR, ANP32E, ANXA9, APH1A, AQP10, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BGLAP, BNIPL, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CDC42SE1, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, FALEC, FDPS, FLAD1, FLG, FLG2, GABPB2, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, IVL, JTB, KCNN3, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LMNA, LOC101928034, LORICRIN, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NES, NPR1, NTRK1, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PGLYRP3, PGLYRP4, PI4KB, PIP5K1A, PKLR, PLEKHO1, PMF1, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRIM46, TSACC, TTC24, TUFT1, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687
Congenital neutropenia-myelofibrosis-nephromegaly syndrome, MHC class II deficiency, Kostmann syndrome,
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Uncertain significance
(Mar 25, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr1:130980840-248900000
IGFN1, IGSF8, LEMD1, LENEP, NCF2, NCSTN, NDUFS2, NECTIN4, OR6P1, OR6Y1, OTUD7B, RAB29, SEMA6C, SHC1, SERPINC1, SHISA4, SIPA1L2, SERTAD4, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, PEX11B, PACC1, PDE4DIP, SHCBP1L, SHE, RAB3GAP2, RAB4A, RABGAP1L, RABIF, RALGPS2, PAPPA2, PAQR6, PARP1, NME7, NENF, NES, NFASC, NLRP3, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NEK2, NEK7, NHLH1, NIBAN1, NID1, NIT1, PDZK1, PEA15, LGALS8, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LPGAT1, LRRC52, LRRN2, LGR6, IL19, IL20, LRRC71, LIX1L, LMNA, PEAR1, IGSF9, IKBKE, IL24, IL6R, ILDR2, ILF2, INAVA, INSRR, INTS3, INTS7, IPO9, IQGAP3, IKBKE-AS1, IL10, GLUL, GNG4, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IRF2BP2, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LEFTY1, LEFTY2, LELP1, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, MRPS21, MSTO1, MT1HL1, MTARC1, MTARC2, MTMR11, MTR, MTX1, MUC1, MYBPH, MYOC, MYOG, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PEX19, PFDN2, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PI4KB, PIAS3, PIGC, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, PTPN7, PTPRC, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RUSC1-AS1, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCCPDH, SCNM1, SCYL3, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNRPE, SNX27, SOAT1, SOX13, SPATA17, SPATA45, SPATA46, SPHAR, SPRR1A, ABCB10, ABL2, ACBD3, ACBD6, ACKR1, ACP6, ACTA1, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, BGLAP, BLZF1, BNIPL, BOLA1, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf100, C1orf105, C1orf115, C1orf116, C1orf131, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CAPN8, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DYRK3, ECM1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, ELF3, ELK4, ENAH, ENSA, ENTREP3, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GABPB2, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TMEM63A, TMEM79, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18, ZBTB37, ZBTB41, ZBTB7B, ZC3H11A, ZNF124, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, ZNF687, ZNF695, ZP4
Gastrointestinal stromal tumor, Paragangliomas 3, Parathyroid carcinoma
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr1:82154-249218992
SMIM1, SSX2IP, ST3GAL3, TDRD5, TNFRSF14, TNFRSF18, TTC4, TTF2, WDR3, WDR47, WDR64, ZNF678, ZNF683, ZNF684, ZNF687, ZNF691, ZSCAN20, ZSWIM5, ZYG11A, ZNF695, ZRANB2-DT, ZNF692, WNT3A, ZNF697, ZNHIT6, ZP4, ZRANB2, WDR77, WNT4, TXLNA, TXNDC12, TXNIP, TYW3, UAP1, UBAP2L, UBE2J2, UBE2Q1, UBE2T, XPR1, WNT9A, WRAP73, XCL1, XCL2, XKR8, WDTC1, TNFRSF1B, TNNI1, TNNI3K, TOR1AIP2, TNN, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TNFSF18, TNFSF4, WLS, WNT2B, TTLL10, TTLL7, UBE2U, UBE4B, TUFT1, TUT4, TDRKH, TEDDM1, TESK2, TGFBR3, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, THAP3, TEX35, TEX38, TEX46, TFAP2E, TFB2M, TGFB2, TEKT2, TENT5B, SMIM12, SMPDL3B, SMYD2, SNORD21, SNRNP40, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, TENT5C, TENT5C-DT, ST6GALNAC3, STX12, STX6, STXBP3, SH2D1B, SHISA4, SHISAL2A, SIKE1, SHC1, SHCBP1L, SHE, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, ST6GALNAC5, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC16A1, SLC16A4, SLC19A2, SLC1A7, SLC22A15, SLC25A24, SLC25A33, SLC25A34, SLC25A44, SLC26A9, SLC27A3, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA1, SPATA17, SPATA21, SPATA45, SPATA46, SPATA6, SPEN, SPHAR, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRARP, SRGAP2, SRGAP2B, SRGAP2C, SRM, SRP9, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSR2, SSU72, STYXL2, SUCO, SUSD4, SV2A, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SYT11, SYT14, SYT2, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TAF5L, TAFA3, TAGLN2, TAL1, TARBP1, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TBCE, TBX15, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, THBS3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TIMM17A, TINAGL1, TIPRL, TLCD4, TLR5, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM53, TMEM54, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM9, TMOD4, TNFAIP8L2, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TOR3A, TP53BP2, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRAF5, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRH-GTG2-1, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRMT1L, TRN-GTT2-7, TRNAU1AP, TRNP1, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, TSPAN1, TSPAN2, TSSK3, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, UBIAD1, UBL4B, UBQLN4, UBR4, UBXN10, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, USF1, USH2A, USP1, USP21, USP24, USP33, USP48, UTP11, UTP25, UTS2, VAMP3, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, YARS1, YBX1, YIPF1, YOD1, YRDC, YTHDF2, YY1AP1, ZBED6, ZBTB17, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZNF670, ZNF672, ZYG11B, ZZZ3, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, ADSS2, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGRN, AGT, AGTRAP, AHCTF1, AHCYL1, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AK4, AK5, AKIRIN1, AKNAD1, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, ATXN7L2, AUNIP, AURKAIP1, AVPR1B, AXDND1, AZIN2, B3GALNT2, B3GALT2, B3GALT6, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf100, C1orf105, C1orf115, C1orf116, C1orf122, C1orf127, C1orf131, C1orf141, C1orf146, C1orf159, C1orf162, C1orf167, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC181, CCDC185, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HHLA3, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LEXM, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853, LINC01649, LINC01783, LINC02897, LINGO4, LIX1L, LMNA, LMO4, LMOD1, LMX1A, LNCATV, LOC101927434, LOC101928034, LORICRIN, LPAR3, LPGAT1, LRIF1, LRIG2, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC47, LRRC52, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LSM10, LURAP1, LUZP1, LY9, LYPD8, LYPLA2, LYPLAL1, LYSMD1, LYST, LZIC, MAB21L3, MACF1, MACO1, MAD2L2, MAEL, MAGI3, MAGOH, MAN1A2, MAN1C1, MANEAL, MAP10, MAP1LC3C, MAP3K21, MAP3K6, MAP7D1, MAPKAPK2, MARCKSL1, MARK1, MASP2, MAST2, MATN1, MCL1, MCOLN2, MCOLN3, MDM4, MDS2, MEAF6, MECR, MED18, MED8, MEF2D, MEGF6, METTL13, METTL18, METTL25B, MEX3A, MFAP2, MFN2, MFSD14A, MFSD2A, MFSD4A, MGST3, MIA3, MIB2, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MINDY1, MIR101-1, MIR137, MIR181A1, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR30C1, MIR3120, MIR34A, MIR429, MIR551A, MIR9-1, MIR9-1HG, MIXL1, MKNK1, MLLT11, MMACHC, MMEL1, MMP23B, MNDA, MOB3C, MORN1, MOV10, MPC2, MPL, MPZ, MPZL1, MR1, MROH7, MROH9, MRPL20, MRPL24, MRPL37, MRPL55, MRPL9, MRPS14, MRPS15, MRPS21, MRTO4, MSH4, MSTO1, MT1HL1, MTARC1, MTARC2, MTF1, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MUTYH, MXRA8, MYBPH, MYBPHL, MYCBP, MYCL, MYOC, MYOG, MYOM3, MYSM1, NADK, NASP, NAV1, NAXE, NBL1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF15, NBPF3, NBPF4, NBPF6, NBPF8, NBPF9, NCDN, NCF2, NCMAP, NCSTN, NDC1, NDUFS2, NDUFS5, NECAP2, NECTIN4, NEGR1, NEGR1-IT1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NHLH1, NHLH2, NIBAN1, NID1, NIPAL3, NIT1, NKAIN1, NLRP3, NME7, NMNAT1, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NLA, NPHP4, NPHS2, NPL, NPPA, NPPB, NPR1, NR0B2, NR1I3, NR5A2, NRAS, NRDC, NSL1, NSUN4, NT5C1A, NTMT2, NTNG1, NTPCR, NTRK1, NUAK2, NUCKS1, NUDC, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODF2L, ODR4, OLFM3, OLFML2B, OLFML3, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR4F16, OR4F29, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSBPL9, OSCP1, OTUD3, OTUD7B, OVGP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PACC1, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARK7, PARP1, PARS2, PATJ, PAX7, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PCSK9, PDC, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1, PDZK1IP1, PEA15, PEAR1, PEF1, PER3, PEX10, PEX11B, PEX14, PEX19, PFDN2, PFKFB2, PGBD2, PGBD5, PGD, PGLYRP3, PGLYRP4, PGM1, PHACTR4, PHC2, PHF13, PHGDH, PHLDA3, PHTF1, PI4KB, PIAS3, PIFO, PIGC, PIGK, PIGM, PIGR, PIGV, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PITHD1, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLEKHO1, PLK3, PLOD1, PLPP3, PLPPR4, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, PNRC2, PODN, POGK, POGZ, POLR3C, POLR3GL, POMGNT1, POU2F1, POU3F1, PPCS, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIE, PPIH, PPM1J, PPOX, PPP1R12B, PPP1R15B, PPP1R8, PPP2R5A, PPT1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRCC, PRDM16, PRDM2, PRDX1, PRDX6, PRELP, PRG4, PRKAA2, PRKAB2, PRKACB, PRKCZ, PRMT6, PROK1, PROX1, PRPF3, PRPF38A, PRPF38B, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PRXL2B, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PSRC1, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTGFRN, PTGS2, PTP4A2, PTPN14, PTPN22, PTPN7, PTPRC, PTPRF, PTPRU, PUM1, PUSL1, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3B, RAB3GAP2, RAB42, RAB4A, RABGAP1L, RABGGTB, RABIF, RAD54L, RALGPS2, RAP1A, RAP1GAP, RASAL2, RASSF5, RAVER2, RBBP4, RBBP5, RBM15, RBM34, RBM8A, RBMXL1, RBP7, RC3H1, RCAN3, RCC1, RCC2, RCOR3, RCSD1, RD3, REG4, REN, RER1, RERE, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBDL2, RHBG, RHCE, RHD, RHEX, RHOC, RHOU, RIIAD1, RIMKLA, RIMS3, RIT1, RLF, RNASEL, RNF11, RNF115, RNF186, RNF187, RNF19B, RNF2, RNF207, RNF220, RNF223, RNPC3, RNPEP, RNU1-4, RO60, ROR1, RORC, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL22, RPL5, RPRD2, RPS27, RPS6KA1, RPS6KC1, RPS8, RPTN, RRAGC, RRP15, RSBN1, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, RUSC1, RUSC1-AS1, RWDD3, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, S100PBP, S1PR1, SAMD11, SAMD13, SARS1, SASS6, SCAMP3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SELL, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
91.
GRCh37:
Chr1:47851-249228449
ADGRL4, ADIPOR1, ANXA9, SPATA1, SYT14, SYT2, SYT6, TMEM222, TMEM234, TMEM240, TRNAU1AP, TRNP1, TRQ-CTG14-1, VASH2, VAV3, ZNF669, ZNF670, ZNF672, ZNF678, ZNF683, ZSCAN20, ZSWIM5, ZNF697, ZNF684, ZNF687, ZNF691, VTCN1, VWA1, VWA5B1, ZNF692, ZNF695, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, VCAM1, VHLL, VN1R5, TTC22, TTC24, TSPAN1, TSPAN2, TSSK3, TTC34, TTC39A, TTC4, TTF2, WARS2, WASF2, TSHB, TSNAX, TSTD1, VPS45, WLS, VPS13D, VPS72, VSIG8, TSACC, TSEN15, TTC13, TMEM82, TMEM88B, TMEM50A, TMEM51, TMEM52, TMEM53, TMEM54, TMEM59, SZRD1, TADA1, TAF12, TBCE, TMEM61, TMEM35B, TMEM39B, TMEM63A, TMEM69, TMEM79, TMEM81, SYTL1, SPRR2F, SPRR2G, SPRR3, SPRR4, SPATA21, SPRR2E, SPATA45, SPATA46, SPATA6, TBX15, SZT2, TACSTD2, TARBP1, AP4B1, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, APOA2, APOBEC4, APCS, APH1A, AQP10, ARF1, TBX19, TCEA3, SPATA17, SPRR2B, SPRR2D, ADORA1, AGT, ADORA3, AGMAT, AGO1, ADPRS, ADSS2, AGBL4, AGL, AGO3, AGO4, AGRN, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, AGTRAP, AHCTF1, AHCYL1, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AK4, AK5, AKIRIN1, AKNAD1, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21, SNRNP40, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPEN, SPHAR, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRTN, SPSB1, SPTA1, SRARP, SRGAP2, SRGAP2B, SRGAP2C, SRM, SRP9, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSR2, SSU72, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, STX6, STXBP3, STYXL2, SUCO, SUSD4, SV2A, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SYT11, TAF13, TAF1A, TAF5L, TAFA3, TAGLN2, TAL1, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TEX35, TEX38, TEX46, TFAP2E, TFB2M, TGFB2, TGFBR3, THAP3, THBS3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TIMM17A, TINAGL1, TIPRL, TLCD4, TLR5, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TNFSF18, TNFSF4, TNN, TNNI1, TNNI3K, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRAF5, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRH-GTG2-1, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRMT1L, TRN-GTT2-7, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, TYW3, UAP1, UBAP2L, UBE2J2, UBE2Q1, UBE2T, UBE2U, UBE4B, UBIAD1, UBL4B, UBQLN4, UBR4, UBXN10, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, USF1, USH2A, USP1, USP21, USP24, USP33, USP48, UTP11, UTP25, UTS2, VAMP3, VAMP4, VANGL1, VANGL2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, WNT2B, WNT3A, WNT4, WNT9A, WRAP73, XCL1, XCL2, XKR8, XPR1, YARS1, YBX1, YIPF1, YOD1, YRDC, YTHDF2, YY1AP1, ZBED6, ZBTB17, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZYG11A, ZYG11B, ZZZ3, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, ATXN7L2, AUNIP, AURKAIP1, AVPR1B, AXDND1, AZIN2, B3GALNT2, B3GALT2, B3GALT6, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf100, C1orf105, C1orf115, C1orf116, C1orf122, C1orf127, C1orf131, C1orf141, C1orf146, C1orf159, C1orf162, C1orf167, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC181, CCDC185, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HHLA3, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LEXM, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853,