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Items: 71

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:97876158-111213132
GRCh38:
Chr1:97410602-110670510
AGL, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CDC14A, CELSR2, CFAP276, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS2, EEIG2, ELAPOR1, EPS8L3, EXTL2, FNDC7, FRRS1, GNAI3, GNAT2, GPR61, GPR88, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01307, LINC01349, LINC01397, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC110121283, LOC110121285, LOC111556158, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893148, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LRRC39, MFSD14A, MIR137, MIR137HG, MIR197, MIR2682, MIR553, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SARS1, SASS6, SCARNA2, SLC16A4, SLC25A24, SLC30A7, SLC35A3, SLC6A17, SLC6A17-AS1, SNX7, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TRMT13, UBL4B, VAV3, VAV3-AS1, VCAM1, WDR47
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr1:102083653-112245650
GRCh38:
Chr1:101618097-111703028
ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01709, LOC107457601, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, OVGP1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DENND2D, DRAM2, EEIG2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh38:
Chr1:103175204-111410059
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSF1, CYB561D1, CYMP-AS1, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01397, LINC01661, LINC01676, LINC01677, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, VAV3-AS1, WDR47
AutismLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr1:104868106-120471049
GRCh38:
Chr1:104325484-119977655
LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LOC129931201, LOC129931202, LOC129931203, LOC129931204, LOC129931205, LOC129931206, LOC129931207, LOC129931208, LOC129931209, LOC129931210, LOC129931211, LOC129931212, LOC129931213, LOC129931214, LOC129931215, LOC129931216, LOC129931217, LOC129931218, LOC129931219, LOC129931220, LOC129931221, LOC129931222, LOC129931223, LOC129931224, LOC129931225, LOC129931226, LOC129931227, LOC129931228, LOC129931229, LOC129931230, LOC129931231, LOC129931232, LOC129931233, LOC129931234, LOC129931235, LOC129931236, LOC129931237, LOC129931238, LOC129931239, LOC129931240, LOC129931241, LOC129931242, LOC129931243, LOC129931244, LOC129931245, LOC129931246, LOC129931247, LOC129931248, LOC129931249, LOC129931250, LOC129931251, LOC129931252, LOC129931253, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC129931299, LOC129931300, LOC129931301, LOC129931302, LOC129931303, LOC129931304, LOC129931305, LOC129931306, LOC129931307, LOC129931308, LOC132090666, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR197, MIR320B1, MIR4256, MIR548AC, MIR7852, MIR942, MOV10, MYBPHL, NBPF4, NBPF6, NGF, NGF-AS1, NHLH2, NOTCH2, NRAS, NTNG1, OLFML3, OVGP1, PHGDH, PHTF1, PPM1J, PPM1J-DT, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, REG4, RHOC, RSBN1, SARS1, SCARNA2, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPAG17, SPATA42, ST7L, STRIP1, STXBP3, SYCP1, SYPL2, SYT6, TAF13, TAFA3, TBX15, TENT5C, TENT5C-DT, TMEM167B, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VAV3, VAV3-AS1, VTCN1, WARS2, WARS2-AS1, WARS2-IT1, WDR3, WDR47, WDR77, WNT2B, ZNF697, ADAM30, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD1, AMPD2, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, ATXN7L2, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSDE1, CSF1, CTTNBP2NL, CYB561D1, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GDAP2, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HAO2, HAO2-IT1, HENMT1, HIPK1, HIPK1-AS1, HMGCS2, HSD3B1, HSD3B2, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC00622, LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01661, LINC01676, LINC01677, LINC01750, LINC01762, LINC01780, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC105378933, LOC107161156, LOC107985184, LOC109029529, LOC109029530, LOC110121098, LOC110121184, LOC110121283, LOC110121285, LOC111365211, LOC111413047, LOC111721703, LOC111776218, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC113939978, LOC115801437, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC121725050, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC122094909, LOC122094910, LOC122094911, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC126805846, LOC126805847, LOC126805848, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129388583, LOC129388584, LOC129388585, LOC129388586, LOC129388587, LOC129388588, LOC129388589, LOC129388590, LOC129388591, LOC129388592, LOC129388593, LOC129388594, LOC129388595, LOC129388596, LOC129388597, LOC129388598, LOC129388599, LOC129388600, LOC129931063
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
5.
GRCh37:
Chr1:106010914-112733248
GRCh38:
Chr1:105468292-112190626
ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, CSF1, CYB561D1, CYMP-AS1, DDX20, DENND2D, DRAM2, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01750, LOC101928718, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OVGP1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr1:106617209-110686912
GRCh38:
Chr1:106074587-110144290
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, LINC01397, LINC01661, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, PRMT6, PRPF38B, PSMA5, PSRC1, SARS1, SCARNA2, SLC25A24, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, VAV3-AS1, WDR47
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr1:110299252-119192827
GRCh38:
Chr1:109756630-118650204
ADORA3, AHCYL1, ALX3, AMPD1, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1-AS1, ATP5PB, BCAS2, BCL2L15, C1orf162, CAPZA1, CASQ2, CD101, CD101-AS1, CD2, CD2-LCR, CD53, CD58, CEPT1, CHI3L2, CHIA, CIMAP3, CSDE1, CSF1, CTTNBP2NL, CYMP-AS1, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, EPS8L3, GDAP2, HIPK1, HIPK1-AS1, IGSF3, INKA2, INKA2-AS1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, KCND3, KCND3-AS1, KCND3-IT1, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01356, LINC01357, LINC01397, LINC01525, LINC01649, LINC01750, LINC01762, LINC02868, LINC02884, LOC101928718, LOC101928977, LOC107161156, LOC107985184, LOC110121098, LOC110121184, LOC111365211, LOC111413047, LOC112577473, LOC112577475, LOC112577476, LOC112577477, LOC112577478, LOC112577479, LOC112577480, LOC112577481, LOC112577483, LOC112577484, LOC112577485, LOC113939977, LOC115801438, LOC115801439, LOC115801440, LOC115801441, LOC120893152, LOC120893153, LOC120893154, LOC120893155, LOC120893156, LOC120893157, LOC121725043, LOC121725044, LOC121725045, LOC121725046, LOC121725047, LOC121725048, LOC121725049, LOC122094895, LOC122094896, LOC122094897, LOC122094898, LOC122094899, LOC122094900, LOC122094901, LOC122094902, LOC122094903, LOC122094904, LOC122094905, LOC122094906, LOC122094907, LOC122094908, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC126805830, LOC126805831, LOC126805832, LOC126805833, LOC126805834, LOC126805835, LOC126805836, LOC126805837, LOC126805838, LOC126805839, LOC126805840, LOC126805841, LOC126805842, LOC126805843, LOC126805844, LOC126805845, LOC129388578, LOC129388579, LOC129388580, LOC129388581, LOC129388582, LOC129388583, LOC129388584, LOC129388585, LOC129388586, LOC129388587, LOC129388588, LOC129388589, LOC129388590, LOC129388591, LOC129388592, LOC129388593, LOC129388594, LOC129388595, LOC129388596, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LOC129931192, LOC129931193, LOC129931194, LOC129931195, LOC129931196, LOC129931197, LOC129931198, LOC129931199, LOC129931200, LOC129931201, LOC129931202, LOC129931203, LOC129931204, LOC129931205, LOC129931206, LOC129931207, LOC129931208, LOC129931209, LOC129931210, LOC129931211, LOC129931212, LOC129931213, LOC129931214, LOC129931215, LOC129931216, LOC129931217, LOC129931218, LOC129931219, LOC129931220, LOC129931221, LOC129931222, LOC129931223, LOC129931224, LOC129931225, LOC129931226, LOC129931227, LOC129931228, LOC129931229, LOC129931230, LOC129931231, LOC129931232, LOC129931233, LOC129931234, LOC129931235, LOC129931236, LOC129931237, LOC129931238, LOC129931239, LOC129931240, LOC129931241, LOC129931242, LOC129931243, LOC129931244, LOC129931245, LOC129931246, LOC129931247, LOC129931248, LOC129931249, LOC129931250, LOC129931251, LOC129931252, LOC129931253, LOC129931254, LOC129931255, LOC129931256, LOC129931257, LOC129931258, LOC129931259, LOC129931260, LOC129931261, LOC129931262, LOC129931263, LOC129931264, LOC129931265, LOC129931266, LOC129931267, LOC129931268, LOC129931269, LOC129931270, LOC129931271, LOC129931272, LOC129931273, LOC129931274, LOC129931275, LOC129931276, LOC129931277, LOC129931278, LOC129931279, LOC129931280, LOC129931281, LOC129931282, LOC129931283, LOC129931284, LOC129931285, LOC129931286, LOC129931287, LOC129931288, LOC129931289, LOC129931290, LOC129931291, LOC129931292, LOC129931293, LOC129931294, LOC129931295, LOC129931296, LOC129931297, LOC129931298, LOC643441, LRIF1, LRIG2, LRIG2-DT, MAB21L3, MAGI3, MAN1A2, MIR11399, MIR320B1, MIR4256, MIR548AC, MIR942, MOV10, NGF, NGF-AS1, NHLH2, NRAS, OLFML3, OVGP1, PHTF1, PPM1J, PPM1J-DT, PROK1, PTGFRN, PTPN22, RAP1A, RBM15, RBM15-AS1, RHOC, RSBN1, SIKE1, SLC16A1, SLC16A1-AS1, SLC16A4, SLC22A15, SLC6A17, SLC6A17-AS1, SPAG17, ST7L, STRIP1, SYCP1, SYT6, TAFA3, TENT5C, TENT5C-DT, TMIGD3, TRIM33, TRIM45, TSHB, TSPAN2, TTF2, UBL4B, VANGL1, VTCN1, WDR3, WDR77, WNT2B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr1:110603286-110603287
GRCh38:
Chr1:110060664-110060665
ALX3not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:110603383
GRCh38:
Chr1:110060761
ALX3P335LInborn genetic diseasesUncertain significance
(Mar 28, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr1:110603389
GRCh38:
Chr1:110060767
ALX3K333TInborn genetic diseasesUncertain significance
(Apr 18, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr1:110603394
GRCh38:
Chr1:110060772
ALX3K331NInborn genetic diseasesUncertain significance
(Aug 10, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr1:110603428
GRCh38:
Chr1:110060806
ALX3Y320CInborn genetic diseases, not providedUncertain significance
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:110603472
GRCh38:
Chr1:110060850
ALX3not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr1:110603511
GRCh38:
Chr1:110060889
ALX3not providedLikely benign
(Oct 8, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:110603525
GRCh38:
Chr1:110060903
ALX3P288SInborn genetic diseasesUncertain significance
(Nov 4, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr1:110603609
GRCh38:
Chr1:110060987
ALX3L260FInborn genetic diseasesUncertain significance
(Jun 18, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr1:110603639
GRCh38:
Chr1:110061017
ALX3P250Anot provided, not specifiedBenign/Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:110603650-110603651
GRCh38:
Chr1:110061028-110061029
ALX3L246fsFrontorhinyLikely pathogenic
(Aug 3, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:110604086
GRCh38:
Chr1:110061464
ALX3V232MInborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr1:110604097
GRCh38:
Chr1:110061475
ALX3Y228CInborn genetic diseasesUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:110604118
GRCh38:
Chr1:110061496
ALX3R221QInborn genetic diseasesUncertain significance
(Apr 20, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr1:110604138
GRCh38:
Chr1:110061516
ALX3not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr1:110604153
GRCh38:
Chr1:110061531
ALX3not specified, not providedBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:110604172
GRCh38:
Chr1:110061550
ALX3N203SFrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
25.
GRCh37:
Chr1:110604187
GRCh38:
Chr1:110061565
ALX3FrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
26.
GRCh37:
Chr1:110606946
GRCh38:
Chr1:110064324
ALX3not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr1:110607019
GRCh38:
Chr1:110064397
ALX3not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr1:110607211
GRCh38:
Chr1:110064589
ALX3Q198*not providedPathogenic
(Jun 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:110607217
GRCh38:
Chr1:110064595
ALX3R196WFrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
30.
GRCh37:
Chr1:110607222-110607225
GRCh38:
Chr1:110064600-110064603
ALX3T193fsFrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
31.
GRCh37:
Chr1:110607247
GRCh38:
Chr1:110064625
ALX3L186Vnot providedUncertain significance
(May 27, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:110607256
GRCh38:
Chr1:110064634
ALX3R183WFrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
33.
GRCh37:
Chr1:110607260
GRCh38:
Chr1:110064638
ALX3Y181*FrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
34.
GRCh37:
Chr1:110607301
GRCh38:
Chr1:110064679
ALX3L168VFrontorhinyPathogenic
(May 1, 2009)
no assertion criteria provided
35.
GRCh37:
Chr1:110607323
GRCh38:
Chr1:110064701
ALX3not providedLikely benign
(Apr 23, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr1:110607365
GRCh38:
Chr1:110064743
ALX3not providedLikely benign
(May 9, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr1:110607397
GRCh38:
Chr1:110064775
ALX3L136VInborn genetic diseasesUncertain significance
(Aug 26, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:110607454
GRCh38:
Chr1:110064832
ALX3G117RInborn genetic diseasesUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:110607457
GRCh38:
Chr1:110064835
ALX3D116HInborn genetic diseasesUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:110607514-110607516
GRCh38:
Chr1:110064892-110064894
ALX3K96delnot providedUncertain significance
(Apr 1, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr1:110607531
GRCh38:
Chr1:110064909
ALX3not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr1:110612662
GRCh38:
Chr1:110070040
ALX3not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:110612727
GRCh38:
Chr1:110070105
ALX3not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr1:110612925
GRCh38:
Chr1:110070303
ALX3not provided, FrontorhinyBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:110613003
GRCh38:
Chr1:110070381
ALX3G78RInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:110613003
GRCh38:
Chr1:110070381
ALX3G78SInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:110613031
GRCh38:
Chr1:110070409
ALX3not providedBenign
(Apr 30, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr1:110613042
GRCh38:
Chr1:110070420
ALX3A65TInborn genetic diseasesUncertain significance
(Jul 30, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr1:110613044
GRCh38:
Chr1:110070422
ALX3P64LInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr1:110613053
GRCh38:
Chr1:110070431
ALX3L61HInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:110613069
GRCh38:
Chr1:110070447
ALX3P56SInborn genetic diseasesUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:110613080
GRCh38:
Chr1:110070458
ALX3P52Lnot providedLikely benign
(Mar 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:110613108
GRCh38:
Chr1:110070486
ALX3P43SInborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr1:110613119
GRCh38:
Chr1:110070497
ALX3H39LInborn genetic diseasesUncertain significance
(Mar 24, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr1:110613124
GRCh38:
Chr1:110070502
ALX3H37QInborn genetic diseasesUncertain significance
(Mar 24, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr1:110613126
GRCh38:
Chr1:110070504
ALX3H37YInborn genetic diseasesUncertain significance
(Jul 11, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr1:110613143
GRCh38:
Chr1:110070521
ALX3T31SInborn genetic diseasesUncertain significance
(Jan 23, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr1:110613151
GRCh38:
Chr1:110070529
ALX3not providedLikely benign
(Jun 2, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr1:110613215
GRCh38:
Chr1:110070593
ALX3A7VInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:108679275-111674176
Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9Pathogenic
(May 31, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:95046805-114714931
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:110603355-111147404
ALX3, KCNA10, KCNA2, KCNC4, LAMTOR5, PROK1, RBM15, SLC16A4, SLC6A17, UBL4BDevelopmental and epileptic encephalopathy, 32Pathogenic
(Sep 7, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:102021465-119737478
Seizure, Neurodevelopmental delayPathogenic
(Mar 15, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr1:108926313-111266497
not providednot providedno assertion provided
65.
GRCh37:
Chr1:107779092-111199205
1p13.3 deletion syndromeLikely pathogenic
(Jun 6, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr1:94054724-111671707
not providedPathogenic
(Mar 20, 2013)
no assertion criteria provided
67.
GRCh37:
Chr1:82154-249218992
ADSS2, SPSB1, TAF5L, TAFA3, TMEM222, TRIM63, USF1, YOD1, YRDC, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, YTHDF2, YY1AP1, ZBED6, ZCCHC17, ZDHHC18, ZFP69B, UTP25, UTS2, USP24, USP33, USP48, ZFP69, ZBTB17, ZBTB8A, USH2A, UTP11, VAMP3, TRMT13, TRMT1L, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, USP1, USP21, TRIM67, TRIT1, TSPAN1, TSPAN2, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM240, TMEM35B, TMEM39B, TMEM50A, TSSK3, TRN-GTT2-7, TRNAU1AP, TRNP1, TMEM234, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TARBP1, TMEM51, TMEM52, TMEM53, TMEM54, SSU72, SSX2IP, SRGAP2B, SRGAP2C, SRM, SRP9, SRSF10, SRSF11, SRSF4, SRARP, SRGAP2, SRRM1, SSBP3, SSR2, TAGLN2, TAL1, AGBL4, AGL, AK4, AK5, AKIRIN1, AKNAD1, AGRN, AGT, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHCTF1, AHCYL1, TBCE, TBX15, SPTA1, 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, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, SNRNP40, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA1, SPATA17, SPATA21, SPATA45, SPATA46, SPATA6, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, 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, SYT14, SYT2, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, 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, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, 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, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, WLS, WNT2B, WNT3A, WNT4, WNT9A, WRAP73, XCL1, XCL2, XKR8, XPR1, YARS1, YBX1, YIPF1, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZNF670, ZNF672, ZNF678, ZNF683, ZNF684, ZNF687, ZNF691, ZNF692, ZNF695, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, 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, 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, CIMAP2, CIMAP3, 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, 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, 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, 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, NHSL3, 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, 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, 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, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, 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, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
68.
GRCh37:
Chr1:47851-249228449
SLC16A1, SLC16A4, SNRNP40, STX6, STXBP3, TEX35, TEX38, TNFRSF8, TNFRSF9, TNFSF18, TYW3, WLS, ZNF670, ZNF672, AGBL4, AGL, AGMAT, APCS, ZNF678, ZNF683, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZNF684, ZNF695, ZNF687, ZNF691, ZNF692, WNT2B, YIPF1, YOD1, XCL2, XKR8, XPR1, WNT3A, WNT4, WNT9A, UBAP2L, UBE2Q1, UBE2T, WRAP73, XCL1, UAP1, UBE2U, UBE4B, UBIAD1, UBL4B, UBE2J2, UBQLN4, UBR4, UBXN10, TNNI3K, TRE-TTC3-1, TNFSF4, TNN, TNNI1, TOR1AIP2, TOR3A, TP53BP2, YARS1, YBX1, TRAF5, TRAPPC3, TRG-CCC1-1, TRH-GTG2-1, TINAGL1, TIPRL, TLCD4, TLR5, THEMIS2, THRAP3, TIE1, TIMM17A, TGFB2, TGFBR3, THAP3, TRIM11, TRIM17, TEX46, TFAP2E, TFB2M, THBS3, THEM4, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SUCO, SUSD4, THEM5, STYXL2, SV2A, SORT1, SPATA1, SPATA17, SPATA21, SNX7, SOAT1, SOX13, SPAG17, SYT11, SYT14, SYT2, SNRPE, SNX27, SPATA45, SPATA46, SLC1A7, SLC25A24, SLC26A9, SLC22A15, SLC25A33, SPATA6, SLC19A2, SLC25A34, SLC25A44, SASS6, SCAMP3, S100A8, S100A9, S100PBP, S100A5, S100A6, S100A7, S100A7A, S1PR1, SAMD11, SAMD13, SLC27A3, S100A4, SARS1, S100A3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, 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, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21, SPEN, SPHAR, SPMIP3, 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, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, 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, TDRD5, TDRKH, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, 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, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, 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, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, 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, WDR3, WDR47, WDR64, WDR77, WDTC1, 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, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ATXN7L2, C1orf116, CAPN8, CDKN2C, CELA3A, CELA2B, CELA2A, CAPZA1, CAPZB, CASP9, C1orf122, C1orf162, C1orf167, C1orf159, C1orf127, C1orf131, AURKAIP1, C1orf141, C1orf146, CAPN9, CASQ1, CASQ2, CCDC181, APH1A, ARHGAP29, ARHGAP30, ARHGEF10L, APOA2, APOBEC4, AQP10, ARF1, CCDC185, AUNIP, AXDND1, AZIN2, B3GALNT2, B3GALT2, AVPR1B, AGO1, AHCYL1, AGO3, AGO4, AGRN, AGT, AGTRAP, AHCTF1, B3GALT6, 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, 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, ANKRD13C-DT, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, 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, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BC