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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:57595736-73049225
GRCh38:
Chr17:36449220-75053130
EFTUD2, EIF1, EME1, AARSD1, AATF, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCA9-AS1, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, AKAP1-DT, AMZ2, ANKFN1, ANKRD40, ANKRD40CL, AOC2, AOC3, APOH, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ARSG, ASB16, ASB16-AS1, ATP5MC1, ATP5PD, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2, B4GALNT2, BCAS3, BCAS3-AS1, BECN1, C17orf47, BPTF, BRCA1, BRIP1, BTBD17, C17orf113, C17orf58, C17orf67, C17orf78, C17orf80, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC17, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK5RAP3, CDR2L, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COG1, COIL, COL1A1, COPZ2, COX11, CPSF4L, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAI2, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FADS6, FAM117A, FAM171A2, FAM187A, FAM20A, FAM215A, FAM215B, FBXL20, FBXO47, FDXR, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-AS1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GJD3-AS1, GNA13, GNGT2, GOSR2, GOSR2-DT, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, HEXIM2-AS1, HID1, HID1-AS1, HIGD1B, HLF, HNF1B, HOXB-AS1, HOXB-AS2, HOXB-AS3, HOXB-AS4, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXBLINC, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1C, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, KCNH6, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF18B, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KPNB1-DT, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LASP1, LASP1NB, LHX1, LHX1-DT, LIMD2, LINC00469, LINC00511, LINC00671, LINC00673, LINC00674, LINC00910, LINC00974, LINC01028, LINC01152, LINC01180, LINC01476, LINC01482, LINC01483, LINC01497, LINC01969, LINC01974, LINC01976, LINC01982, LINC01999, LINC02003, LINC02071, LINC02072, LINC02073, LINC02074, LINC02075, LINC02079, LINC02086, LINC02089, LINC02092, LINC02097, LINC02210, LINC02210-CRHR1, LINC02563, LINC02594, LINC02875, LINC02876, LINC03057, LOC100134391, LOC100287808, LOC100505782, LOC100507002, LOC100996660, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928045, LOC101928251, LOC101928343, LOC101929767, LOC102723517, LOC102724183, LOC105371756, LOC105371763, LOC105371767, LOC105371773, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371856, LOC105371880, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121373, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC112533663, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC116276479, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC121852948, LOC121852949, LOC121852950, LOC125177462, LOC125177463, LOC125177464, LOC125177465, LOC125177466, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC125177492, LOC125177493, LOC125177494, LOC125177495, LOC125177496, LOC125177497, LOC125177498, LOC125177500, LOC125177501, LOC125177502, LOC125177503, LOC125177504, LOC125177505, LOC125177507, LOC125177508, LOC125177509, LOC125177510, LOC125177512, LOC125177513, LOC125177514, LOC125177515, LOC125177516, LOC125177517, LOC125177518, LOC125177519, LOC125177520, LOC125177521, LOC125177522, LOC125177523, LOC125177524, LOC125177525, LOC125177526, LOC125177527, LOC125312415, LOC125312416, LOC125312417, LOC125312418, LOC125312419, LOC125312420, LOC125316770, LOC125316771, LOC125316772, LOC125316773, LOC125316774, LOC125316775, LOC125316776, LOC125316777, LOC125316778, LOC125316779, LOC125316780, LOC125316781, LOC125316782, LOC125316783, LOC125316784, LOC125316785, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC126862550, LOC126862551, LOC126862552, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC126862576, LOC126862577, LOC126862578, LOC126862579, LOC126862580, LOC126862581, LOC126862582, LOC126862583, LOC126862584, LOC126862585, LOC126862586, LOC126862587, LOC126862588, LOC126862589, LOC126862590, LOC126862591, LOC126862592, LOC126862593, LOC126862594, LOC126862595, LOC126862596, LOC126862597, LOC126862598, LOC126862599, LOC126862600, LOC126862601, LOC126862602, LOC126862603, LOC126862604, LOC126862605, LOC126862606, LOC126862607, LOC126862608, LOC126862609, LOC126862610, LOC126862611, LOC126862612, LOC126862613, LOC126862614, LOC126862615, LOC126862616, LOC126862617, LOC126862618, LOC126862619, LOC126862620, LOC126862621, LOC126862622, LOC126862623, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC128669077, LOC128669078, LOC129390865, LOC129390866, LOC129390867, LOC129390868, LOC129390869, LOC129390870, LOC129390871, LOC129390872, LOC129390873, LOC129390874, LOC129390875, LOC129390876, LOC129390877, LOC129390878, LOC129390879, LOC129390880, LOC129390881, LOC129390882, LOC129390883, LOC129390884, LOC129390885, LOC129390886, LOC129390887, LOC129390888, LOC129390889, LOC129390890, LOC129390891, LOC129390892, LOC129390893, LOC129390894, LOC129390895, LOC129390896, LOC129390897, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NT5C3B, NXPH3, ODAD4, OR4D1, OR4D2, ORMDL3, OSBPL7, OTOP2, OTOP3, P3H4, PCGF2, PCTP, PDK2, PECAM1, PGAP3, PHB1, PHOSPHO1, PICART1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PNPO, POLG2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRAC2, PRKAR1A, PRKCA, PRKCA-AS1, PRO1804, PRR11, PRR15L, PRR29, PRR29-AS1, PSMB3, PSMC3IP, PSMC5, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYY, RAB37, RAB5C, RAB5C-AS1, RAD51C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, REVSEX, RGS9, RND2, RNF43, RNFT1, RNFT1-DT, RNU2-1, ROCR, RPL19, RPL23, RPL27, RPL38, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, RUNDC3A-AS1, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SDK2, SEPTIN4, SEPTIN4-AS1, SGCA, SKA2, SKAP1, SKAP1-AS2, SLC16A6, SLC25A39, SLC35B1, SLC39A11, SLC4A1, SLC9A3R1-AS1, SMARCD2, SMARCE1, SMG8, SMIM36, SMURF2, SNF8, SNHG25, SNORA21, SNORA21B, SNORA38B, SNORA50C, SNORA90, SNORD104, SNORD124, SNX11, SOCS7, SOST, SOX9, SOX9-AS1, SOX9CRE1, SP2, SP2-AS1, SP2-DT, SP6, SPAG9, SPATA20, SPATA32, SPMAP1, SPOP, SPPL2C, SRCIN1, SRSF1, SSTR2, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM104, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TTYH2, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USH1G, USP32, UTP18, VAT1, VCF1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WIPI1, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, LOC130061225, LOC130061226, LOC130061227, LOC130061228, LOC130061229, LOC130061230, LOC130061231, LOC130061232, LOC130061233, LOC130061234, LOC130061235, LOC130061236, LOC130061237, LOC130061238, LOC130061239, LOC130061240, LOC130061241, LOC130061242, LOC130061243, LOC130061244, LOC130061245, LOC130061246, LOC130061247, LOC130061248, LOC130061249, LOC130061250, LOC130061251, LOC130061252, LOC130061253, LOC130061254, LOC130061255, LOC130061256, LOC130061257, LOC130061258, LOC130061259, LOC130061260, LOC130061261, LOC130061262, LOC130061263, LOC130061264, LOC130061265, LOC130061266, LOC130061267, LOC130061268, LOC130061269, LOC130061270, LOC130061271, LOC130061272, LOC130061273, LOC130061274, LOC130061275, LOC130061276, LOC130061277, LOC130061278, LOC130061279, LOC130061280, LOC130061281, LOC130061282, LOC130061283, LOC130061284, LOC130061285, LOC130061286, LOC130061287, LOC130061288, LOC130061289, LOC130061290, LOC130061291, LOC130061292, LOC130061293, LOC130061294, LOC130061295, LOC130061296, LOC130061297, LOC130061298, LOC130061299, LOC130061300, LOC130061301, LOC130061302, LOC130061303, LOC130061304, LOC130061305, LOC130061306, LOC130061307, LOC130061308, LOC130061309, LOC130061310, LOC130061311, LOC130061312, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, LOC130061318, LOC130061319, LOC130061320, LOC130061321, LOC130061322, LOC130061323, LOC130061324, LOC130061325, LOC130061326, LOC130061327, LOC130061328, LOC130061329, LOC130061330, LOC130061331, LOC130061332, LOC130061333, LOC130061334, LOC130061335, LOC130061336, LOC130061337, LOC130061338, LOC130061339, LOC130061340, LOC130061341, LOC130061342, LOC130061343, LOC130061344, LOC130061345, LOC130061346, LOC130061347, LOC130061348, LOC130061349, LOC130061350, LOC130061351, LOC130061352, LOC130061353, LOC130061354, LOC130061355, LOC130061356, LOC130061357, LOC130061358, LOC130061359, LOC130061360, LOC130061361, LOC130061362, LOC130061363, LOC130061364, LOC130061365, LOC130061366, LOC130061367, LOC130061368, LOC130061369, LOC130061370, LOC130061371, LOC130061372, LOC130061373, LOC130061374, LOC130061375, LOC130061376, LOC130061377, LOC130061378, LOC130061379, LOC130061380, LOC130061381, LOC130061382, LOC130061383, LOC130061384, LOC130061385, LOC130061386, LOC130061387, LOC130061388, LOC130061389, LOC130061390, LOC130061391, LOC130061392, LOC130061393, LOC130061394, LOC130061395, LOC130061396, LOC130061397, LOC130061398, LOC130061399, LOC130061400, LOC130061401, LOC130061402, LOC130061403, LOC130061404, LOC130061405, LOC130061406, LOC130061407, LOC130061408, LOC130061409, LOC130061410, LOC130061411, LOC130061412, LOC130061413, LOC130061414, LOC130061415, LOC130061416, LOC130061417, LOC130061418, LOC130061419, LOC130061420, LOC130061421, LOC130061422, LOC130061423, LOC130061424, LOC130061425, LOC130061426, LOC130061427, LOC130061428, LOC130061429, LOC130061430, LOC130061431, LOC130061432, LOC130061433, LOC130061434, LOC130061435, LOC130061436, LOC130061437, LOC130061438, LOC130061439, LOC130061440, LOC130061441, LOC130061442, LOC130061443, LOC130061444, LOC130061445, LOC130061446, LOC130061447, LOC130061448, LOC130061449, LOC130061450, LOC130061451, LOC130061452, LOC130061453, LOC130061454, LOC130061455, LOC130061456, LOC130061457, LOC130061458, LOC130061459, LOC130061460, LOC130061461, LOC130061462, LOC130061463, LOC130061464, LOC130061465, LOC130061466, LOC130061467, LOC130061468, LOC130061469, LOC130061470, LOC130061471, LOC130061472, LOC130061473, LOC130061474, LOC130061475, LOC130061476, LOC130061477, LOC130061478, LOC130061479, LOC130061480, LOC130061481, LOC130061482, LOC130061483, LOC130061484, LOC130061485, LOC130061486, LOC130061487, LOC130061488, LOC130061489, LOC130061490, LOC130061491, LOC130061492, LOC130061493, LOC130061494, LOC130061495, LOC130061496, LOC130061497, LOC130061498, LOC130061499, LOC130061500, LOC130061501, LOC130061502, LOC130061503, LOC130061504, LOC130061505, LOC130061506, LOC130061507, LOC130061508, LOC130061509, LOC130061510, LOC130061511, LOC130061512, LOC130061513, LOC130061514, LOC130061515, LOC130061516, LOC130061517, LOC130061518, LOC130061519, LOC130061520, LOC130061521, LOC130061522, LOC130061523, LOC130061524, LOC130061525, LOC130061526, LOC130061527, LOC130061528, LOC130061529, LOC130061530, LOC130061531, LOC130061532, LOC130061533, LOC130061534, LOC130061535, LOC130061536, LOC130061537, LOC130061538, LOC130061539, LOC130061540, LOC130061541, LOC130061542, LOC130061543, LOC130061544, LOC130061545, LOC130061546, LOC130061547, LOC130061548, LOC130061549, LOC130061550, LOC130061551, LOC130061552, LOC130061553, LOC130061554, LOC130061555, LOC130061556, LOC130061557, LOC130061558, LOC130061559, LOC130061560, LOC130061561, LOC130061562, LOC130061563, LOC130061564, LOC130061565, LOC130061566, LOC130061567, LOC130061568, LOC130061569, LOC130061570, LOC130061571, LOC130061572, LOC130061573, LOC130061574, LOC130061575, LOC130061576, LOC130061577, LOC130061578, LOC130061579, LOC130061580, LOC130061581, LOC130061582, LOC130061583, LOC130061584, LOC130061585, LOC130061586, LOC130061587, LOC130061588, LOC130061589, LOC130061590, LOC130061591, LOC130061592, LOC130061593, LOC130061594, LOC130061595, LOC130061596, LOC130061597, LOC130061598, LOC130061599, LOC130061600, LOC130061601, LOC130061602, LOC130061603, LOC130061604, LOC130061605, LOC130061606, LOC130061607, LOC130061608, LOC130061609, LOC130061610, LOC130061611, LOC130061612, LOC130061613, LOC130061614, LOC130061615, LOC130061616, LOC130061617, LOC130061618, LOC130061619, LOC130061620, LOC130061621, LOC130061622, LOC130061623, LOC130061624, LOC130061625, LOC130061626, LOC130061627, LOC130061628, LOC130061629, LOC130061630, LOC130061631, LOC131477896, LOC131520253, LOC132090895, LOC729683, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, MAP2K6, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCHF10, MARCHF10-DT, MBTD1, MED1, MED13, MED24, MEIOC, MEOX1, METTL2A, MGC16275, MIEN1, MILR1, MIR10226, MIR10A, MIR1203, MIR142, MIR142HG, MIR152, MIR196A1, MIR21, MIR2117, MIR2117HG, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR3615, MIR378J, MIR4315-1, MIR4315-2, MIR4524A, MIR4524B, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089, MIR548AA2, MIR548AT, MIR548BC, MIR548D2, MIR6080, MIR6129, MIR6165, MIR633, MIR634, MIR635, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6, MLX, MMD, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPL58, MRPS23, MSI2, MSL1, MTMR4, MYCBPAP, MYL4, MYO19, NACA2, NAGLU, NAGS, NAT9, NBR1, NBR2, NEUROD2, NFE2L1, NFE2L1-DT, NGFR, NGFR-AS1, NHERF1, NKIRAS2, LOC129390898, LOC129390899, LOC129390900, LOC129390901, LOC129390902, LOC129390903, LOC129390904, LOC129390905, LOC129390906, LOC129390907, LOC129390908, LOC129390909, LOC129390910, LOC129390911, LOC129390912, LOC129390913, LOC129390914, LOC129390915, LOC129390916, LOC129390917, LOC129390918, LOC129390919, LOC129390920, LOC129390921, LOC129390922, LOC129390923, LOC129390924, LOC129390925, LOC129390926, LOC129390927, LOC129390928, LOC129390929, LOC129390930, LOC129390931, LOC129390932, LOC130060737, LOC130060738, LOC130060739, LOC130060740, LOC130060741, LOC130060742, LOC130060743, LOC130060744, LOC130060745, LOC130060746, LOC130060747, LOC130060748, LOC130060749, LOC130060750, LOC130060751, LOC130060752, LOC130060753, LOC130060754, LOC130060755, LOC130060756, LOC130060757, LOC130060758, LOC130060759, LOC130060760, LOC130060761, LOC130060762, LOC130060763, LOC130060764, LOC130060765, LOC130060766, LOC130060767, LOC130060768, LOC130060769, LOC130060770, LOC130060771, LOC130060772, LOC130060773, LOC130060774, LOC130060775, LOC130060776, LOC130060777, LOC130060778, LOC130060779, LOC130060780, LOC130060781, LOC130060782, LOC130060783, LOC130060784, LOC130060785, LOC130060786, LOC130060787, LOC130060788, LOC130060789, LOC130060790, LOC130060791, LOC130060792, LOC130060793, LOC130060794, LOC130060795, LOC130060796, LOC130060797, LOC130060798, LOC130060799, LOC130060800, LOC130060801, LOC130060802, LOC130060803, LOC130060804, LOC130060805, LOC130060806, LOC130060807, LOC130060808, LOC130060809, LOC130060810, LOC130060811, LOC130060812, LOC130060813, LOC130060814, LOC130060815, LOC130060816, LOC130060817, LOC130060818, LOC130060819, LOC130060820, LOC130060821, LOC130060822, LOC130060823, LOC130060824, LOC130060825, LOC130060826, LOC130060827, LOC130060828, LOC130060829, LOC130060830, LOC130060831, LOC130060832, LOC130060833, LOC130060834, LOC130060835, LOC130060836, LOC130060837, LOC130060838, LOC130060839, LOC130060840, LOC130060841, LOC130060842, LOC130060843, LOC130060844, LOC130060845, LOC130060846, LOC130060847, LOC130060848, LOC130060849, LOC130060850, LOC130060851, LOC130060852, LOC130060853, LOC130060854, LOC130060855, LOC130060856, LOC130060857, LOC130060858, LOC130060859, LOC130060860, LOC130060861, LOC130060862, LOC130060863, LOC130060864, LOC130060865, LOC130060866, LOC130060867, LOC130060868, LOC130060869, LOC130060870, LOC130060871, LOC130060872, LOC130060873, LOC130060874, LOC130060875, LOC130060876, LOC130060877, LOC130060878, LOC130060879, LOC130060880, LOC130060881, LOC130060882, LOC130060883, LOC130060884, LOC130060885, LOC130060886, LOC130060887, LOC130060888, LOC130060889, LOC130060890, LOC130060891, LOC130060892, LOC130060893, LOC130060894, LOC130060895, LOC130060896, LOC130060897, LOC130060898, LOC130060899, LOC130060900, LOC130060901, LOC130060902, LOC130060903, LOC130060904, LOC130060905, LOC130060906, LOC130060907, LOC130060908, LOC130060909, LOC130060910, LOC130060911, LOC130060912, LOC130060913, LOC130060914, LOC130060915, LOC130060916, LOC130060917, LOC130060918, LOC130060919, LOC130060920, LOC130060921, LOC130060922, LOC130060923, LOC130060924, LOC130060925, LOC130060926, LOC130060927, LOC130060928, LOC130060929, LOC130060930, LOC130060931, LOC130060932, LOC130060933, LOC130060934, LOC130060935, LOC130060936, LOC130060937, LOC130060938, LOC130060939, LOC130060940, LOC130060941, LOC130060942, LOC130060943, LOC130060944, LOC130060945, LOC130060946, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, LOC130060957, LOC130060958, LOC130060959, LOC130060960, LOC130060961, LOC130060962, LOC130060963, LOC130060964, LOC130060965, LOC130060966, LOC130060967, LOC130060968, LOC130060969, LOC130060970, LOC130060971, LOC130060972, LOC130060973, LOC130060974, LOC130060975, LOC130060976, LOC130060977, LOC130060978, LOC130060979, LOC130060980, LOC130060981, LOC130060982, LOC130060983, LOC130060984, LOC130060985, LOC130060986, LOC130060987, LOC130060988, LOC130060989, LOC130060990, LOC130060991, LOC130060992, LOC130060993, LOC130060994, LOC130060995, LOC130060996, LOC130060997, LOC130060998, LOC130060999, LOC130061000, LOC130061001, LOC130061002, LOC130061003, LOC130061004, LOC130061005, LOC130061006, LOC130061007, LOC130061008, LOC130061009, LOC130061010, LOC130061011, LOC130061012, LOC130061013, LOC130061014, LOC130061015, LOC130061016, LOC130061017, LOC130061018, LOC130061019, LOC130061020, LOC130061021, LOC130061022, LOC130061023, LOC130061024, LOC130061025, LOC130061026, LOC130061027, LOC130061028, LOC130061029, LOC130061030, LOC130061031, LOC130061032, LOC130061033, LOC130061034, LOC130061035, LOC130061036, LOC130061037, LOC130061038, LOC130061039, LOC130061040, LOC130061041, LOC130061042, LOC130061043, LOC130061044, LOC130061045, LOC130061046, LOC130061047, LOC130061048, LOC130061049, LOC130061050, LOC130061051, LOC130061052, LOC130061053, LOC130061054, LOC130061055, LOC130061056, LOC130061057, LOC130061058, LOC130061059, LOC130061060, LOC130061061, LOC130061062, LOC130061063, LOC130061064, LOC130061065, LOC130061066, LOC130061067, LOC130061068, LOC130061069, LOC130061070, LOC130061071, LOC130061072, LOC130061073, LOC130061074, LOC130061075, LOC130061076, LOC130061077, LOC130061078, LOC130061079, LOC130061080, LOC130061081, LOC130061082, LOC130061083, LOC130061084, LOC130061085, LOC130061086, LOC130061087, LOC130061088, LOC130061089, LOC130061090, LOC130061091, LOC130061092, LOC130061093, LOC130061094, LOC130061095, LOC130061096, LOC130061097, LOC130061098, LOC130061099, LOC130061100, LOC130061101, LOC130061102, LOC130061103, LOC130061104, LOC130061105, LOC130061106, LOC130061107, LOC130061108, LOC130061109, LOC130061110, LOC130061111, LOC130061112, LOC130061113, LOC130061114, LOC130061115, LOC130061116, LOC130061117, LOC130061118, LOC130061119, LOC130061120, LOC130061121, LOC130061122, LOC130061123, LOC130061124, LOC130061125, LOC130061126, LOC130061127, LOC130061128, LOC130061129, LOC130061130, LOC130061131, LOC130061132, LOC130061133, LOC130061134, LOC130061135, LOC130061136, LOC130061137, LOC130061138, LOC130061139, LOC130061140, LOC130061141, LOC130061142, LOC130061143, LOC130061144, LOC130061145, LOC130061146, LOC130061147, LOC130061148, LOC130061149, LOC130061150, LOC130061151, LOC130061152, LOC130061153, LOC130061154, LOC130061155, LOC130061156, LOC130061157, LOC130061158, LOC130061159, LOC130061160, LOC130061161, LOC130061162, LOC130061163, LOC130061164, LOC130061165, LOC130061166, LOC130061167, LOC130061168, LOC130061169, LOC130061170, LOC130061171, LOC130061172, LOC130061173, LOC130061174, LOC130061175, LOC130061176, LOC130061177, LOC130061178, LOC130061179, LOC130061180, LOC130061181, LOC130061182, LOC130061183, LOC130061184, LOC130061185, LOC130061186, LOC130061187, LOC130061188, LOC130061189, LOC130061190, LOC130061191, LOC130061192, LOC130061193, LOC130061194, LOC130061195, LOC130061196, LOC130061197, LOC130061198, LOC130061199, LOC130061200, LOC130061201, LOC130061202, LOC130061203, LOC130061204, LOC130061205, LOC130061206, LOC130061207, LOC130061208, LOC130061209, LOC130061210, LOC130061211, LOC130061212, LOC130061213, LOC130061214, LOC130061215, LOC130061216, LOC130061217, LOC130061218, LOC130061219, LOC130061220, LOC130061221, LOC130061222, LOC130061223, LOC130061224
See casesPathogenic
(Apr 21, 2011)
no assertion criteria provided
2.
GRCh37:
Chr17:48563237-65936105
GRCh38:
Chr17:36449220-68170214
MLX, MMD, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPS23, MSI2, MSL1, MTMR4, MYCBPAP, MYL4, MYO19, NACA2, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NFE2L1, NFE2L1-DT, NGFR, NGFR-AS1, NKIRAS2, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NT5C3B, NXPH3, ODAD4, OR4D1, OR4D2, ORMDL3, OSBPL7, P3H4, PCGF2, PCTP, PDK2, PECAM1, PGAP3, PHB1, PHOSPHO1, PICART1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PNPO, POLG2, PRAC2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRKCA, PRKCA-AS1, PRR11, PRR15L, PRR29, PRR29-AS1, PSMB3, PSMC3IP, PSMC5, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYY, RAB5C, RAB5C-AS1, RAD51C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RGS9, RND2, RNF43, RNFT1, RNFT1-DT, RNU2-1, RPL19, RPL23, RPL27, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, RUNDC3A-AS1, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SEPTIN4, SEPTIN4-AS1, SGCA, SKA2, SKAP1, SKAP1-AS2, SLC25A39, SLC35B1, SLC4A1, SMARCD2, SMARCE1, SMG8, SMIM36, SMURF2, SNF8, SNHG25, SNORA21, SNORA21B, SNORA38B, SNORA50C, SNORA90, SNORD104, SNORD124, SNX11, SOCS7, SOST, SP2, SP2-AS1, SP2-DT, SP6, SPAG9, SPATA20, SPATA32, SPMAP1, SPOP, SPPL2C, SRCIN1, SRSF1, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USP32, UTP18, VAT1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, AARSD1, AATF, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, AKAP1-DT, ANKFN1, ANKRD40, ANKRD40CL, AOC2, AOC3, APOH, APPBP2, APPBP2-DT, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ASB16, ASB16-AS1, ATP5MC1, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, AXIN2, B4GALNT2, BCAS3, BCAS3-AS1, BECN1, C17orf58, BPTF, BRCA1, BRIP1, C17orf113, C17orf47, C17orf67, C17orf78, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300LG, CD79B, CDC27, CDC6, CDK12, CDK5RAP3, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COIL, COL1A1, COPZ2, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FAM117A, FAM171A2, FAM187A, FAM215A, FAM215B, FBXL20, FBXO47, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-AS1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GJD3-AS1, GNA13, GNGT2, GOSR2, GOSR2-DT, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, HEXIM2-AS1, HIGD1B, HLF, HNF1B, HOXB-AS1, HOXB-AS2, HOXB-AS3, HOXB-AS4, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXBLINC, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1C, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, KCNH6, KIF18B, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KPNB1-DT, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-16, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LASP1, LASP1NB, LHX1, LHX1-DT, LIMD2, LINC00671, LINC00674, LINC00910, LINC00974, LINC01180, LINC01476, LINC01969, LINC01974, LINC01976, LINC01982, LINC01999, LINC02071, LINC02072, LINC02073, LINC02075, LINC02079, LINC02086, LINC02089, LINC02210, LINC02210-CRHR1, LINC02563, LINC02594, LINC02875, LINC02876, LINC03057, LOC100287808, LOC100505782, LOC100507002, LOC100996660, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928045, LOC101929767, LOC102724183, LOC105371756, LOC105371763, LOC105371767, LOC105371773, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371856, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC125177462, LOC125177463, LOC125177464, LOC125177465, LOC125177466, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC125177492, LOC125177493, LOC125177494, LOC125177495, LOC125177496, LOC125177497, LOC125177498, LOC125177500, LOC125177501, LOC125177502, LOC125177503, LOC125177504, LOC125177505, LOC125177507, LOC125177508, LOC125177509, LOC125177510, LOC125177512, LOC125177513, LOC125177514, LOC125177515, LOC125177516, LOC125177517, LOC125177518, LOC125177519, LOC125177520, LOC125177521, LOC125177522, LOC125177523, LOC125177524, LOC125177525, LOC125177526, LOC125177527, LOC125312415, LOC125312416, LOC125312417, LOC125312418, LOC125312419, LOC125312420, LOC125316770, LOC125316771, LOC125316772, LOC125316773, LOC125316774, LOC125316775, LOC125316776, LOC125316777, LOC125316778, LOC125316779, LOC125316780, LOC125316781, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC126862550, LOC126862551, LOC126862552, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC126862576, LOC126862577, LOC126862578, LOC126862579, LOC126862580, LOC126862581, LOC126862582, LOC126862583, LOC126862584, LOC126862585, LOC126862586, LOC126862587, LOC126862588, LOC126862589, LOC126862590, LOC126862591, LOC126862592, LOC126862593, LOC126862594, LOC126862595, LOC126862596, LOC126862597, LOC126862598, LOC126862599, LOC126862600, LOC126862601, LOC126862602, LOC126862603, LOC126862604, LOC126862605, LOC126862606, LOC126862607, LOC126862608, LOC126862609, LOC126862610, LOC126862611, LOC126862612, LOC126862613, LOC126862614, LOC126862615, LOC126862616, LOC126862617, LOC126862618, LOC126862619, LOC126862620, LOC126862621, LOC126862622, LOC126862623, LOC128669077, LOC128669078, LOC129390865, LOC129390866, LOC129390867, LOC129390868, LOC129390869, LOC129390870, LOC129390871, LOC129390872, LOC129390873, LOC129390874, LOC129390875, LOC129390876, LOC129390877, LOC129390878, LOC129390879, LOC129390880, LOC129390881, LOC129390882, LOC129390883, LOC129390884, LOC129390885, LOC129390886, LOC129390887, LOC129390888, LOC129390889, LOC129390890, LOC129390891, LOC129390892, LOC129390893, LOC129390894, LOC129390895, LOC129390896, LOC129390897, LOC129390898, LOC129390899, LOC129390900, LOC129390901, LOC129390902, LOC129390903, LOC129390904, LOC129390905, LOC129390906, LOC129390907, LOC129390908, LOC129390909, LOC129390910, LOC129390911, LOC129390912, LOC129390913, LOC129390914, LOC129390915, LOC129390916, LOC129390917, LOC129390918, LOC129390919, LOC129390920, LOC129390921, LOC129390922, LOC130060737, LOC130060738, LOC130060739, LOC130060740, LOC130060741, LOC130060742, LOC130060743, LOC130060744, LOC130060745, LOC130060746, LOC130060747, LOC130060748, LOC130060749, LOC130060750, LOC130060751, LOC130060752, LOC130060753, LOC130060754, LOC130060755, LOC130060756, LOC130060757, LOC130060758, LOC130060759, LOC130060760, LOC130060761, LOC130060762, LOC130060763, LOC130060764, LOC130060765, LOC130060766, LOC130060767, LOC130060768, LOC130060769, LOC130060770, LOC130060771, LOC130060772, LOC130060773, LOC130060774, LOC130060775, LOC130060776, LOC130060777, LOC130060778, LOC130060779, LOC130060780, LOC130060781, LOC130060782, LOC130060783, LOC130060784, LOC130060785, LOC130060786, LOC130060787, LOC130060788, LOC130060789, LOC130060790, LOC130060791, LOC130060792, LOC130060793, LOC130060794, LOC130060795, LOC130060796, LOC130060797, LOC130060798, LOC130060799, LOC130060800, LOC130060801, LOC130060802, LOC130060803, LOC130060804, LOC130060805, LOC130060806, LOC130060807, LOC130060808, LOC130060809, LOC130060810, LOC130060811, LOC130060812, LOC130060813, LOC130060814, LOC130060815, LOC130060816, LOC130060817, LOC130060818, LOC130060819, LOC130060820, LOC130060821, LOC130060822, LOC130060823, LOC130060824, LOC130060825, LOC130060826, LOC130060827, LOC130060828, LOC130060829, LOC130060830, LOC130060831, LOC130060832, LOC130060833, LOC130060834, LOC130060835, LOC130060836, LOC130060837, LOC130060838, LOC130060839, LOC130060840, LOC130060841, LOC130060842, LOC130060843, LOC130060844, LOC130060845, LOC130060846, LOC130060847, LOC130060848, LOC130060849, LOC130060850, LOC130060851, LOC130060852, LOC130060853, LOC130060854, LOC130060855, LOC130060856, LOC130060857, LOC130060858, LOC130060859, LOC130060860, LOC130060861, LOC130060862, LOC130060863, LOC130060864, LOC130060865, LOC130060866, LOC130060867, LOC130060868, LOC130060869, LOC130060870, LOC130060871, LOC130060872, LOC130060873, LOC130060874, LOC130060875, LOC130060876, LOC130060877, LOC130060878, LOC130060879, LOC130060880, LOC130060881, LOC130060882, LOC130060883, LOC130060884, LOC130060885, LOC130060886, LOC130060887, LOC130060888, LOC130060889, LOC130060890, LOC130060891, LOC130060892, LOC130060893, LOC130060894, LOC130060895, LOC130060896, LOC130060897, LOC130060898, LOC130060899, LOC130060900, LOC130060901, LOC130060902, LOC130060903, LOC130060904, LOC130060905, LOC130060906, LOC130060907, LOC130060908, LOC130060909, LOC130060910, LOC130060911, LOC130060912, LOC130060913, LOC130060914, LOC130060915, LOC130060916, LOC130060917, LOC130060918, LOC130060919, LOC130060920, LOC130060921, LOC130060922, LOC130060923, LOC130060924, LOC130060925, LOC130060926, LOC130060927, LOC130060928, LOC130060929, LOC130060930, LOC130060931, LOC130060932, LOC130060933, LOC130060934, LOC130060935, LOC130060936, LOC130060937, LOC130060938, LOC130060939, LOC130060940, LOC130060941, LOC130060942, LOC130060943, LOC130060944, LOC130060945, LOC130060946, LOC130060947, LOC130060948, LOC130060949, LOC130060950, LOC130060951, LOC130060952, LOC130060953, LOC130060954, LOC130060955, LOC130060956, LOC130060957, LOC130060958, LOC130060959, LOC130060960, LOC130060961, LOC130060962, LOC130060963, LOC130060964, LOC130060965, LOC130060966, LOC130060967, LOC130060968, LOC130060969, LOC130060970, LOC130060971, LOC130060972, LOC130060973, LOC130060974, LOC130060975, LOC130060976, LOC130060977, LOC130060978, LOC130060979, LOC130060980, LOC130060981, LOC130060982, LOC130060983, LOC130060984, LOC130060985, LOC130060986, LOC130060987, LOC130060988, LOC130060989, LOC130060990, LOC130060991, LOC130060992, LOC130060993, LOC130060994, LOC130060995, LOC130060996, LOC130060997, LOC130060998, LOC130060999, LOC130061000, LOC130061001, LOC130061002, LOC130061003, LOC130061004, LOC130061005, LOC130061006, LOC130061007, LOC130061008, LOC130061009, LOC130061010, LOC130061011, LOC130061012, LOC130061013, LOC130061014, LOC130061015, LOC130061016, LOC130061017, LOC130061018, LOC130061019, LOC130061020, LOC130061021, LOC130061022, LOC130061023, LOC130061024, LOC130061025, LOC130061026, LOC130061027, LOC130061028, LOC130061029, LOC130061030, LOC130061031, LOC130061032, LOC130061033, LOC130061034, LOC130061035, LOC130061036, LOC130061037, LOC130061038, LOC130061039, LOC130061040, LOC130061041, LOC130061042, LOC130061043, LOC130061044, LOC130061045, LOC130061046, LOC130061047, LOC130061048, LOC130061049, LOC130061050, LOC130061051, LOC130061052, LOC130061053, LOC130061054, LOC130061055, LOC130061056, LOC130061057, LOC130061058, LOC130061059, LOC130061060, LOC130061061, LOC130061062, LOC130061063, LOC130061064, LOC130061065, LOC130061066, LOC130061067, LOC130061068, LOC130061069, LOC130061070, LOC130061071, LOC130061072, LOC130061073, LOC130061074, LOC130061075, LOC130061076, LOC130061077, LOC130061078, LOC130061079, LOC130061080, LOC130061081, LOC130061082, LOC130061083, LOC130061084, LOC130061085, LOC130061086, LOC130061087, LOC130061088, LOC130061089, LOC130061090, LOC130061091, LOC130061092, LOC130061093, LOC130061094, LOC130061095, LOC130061096, LOC130061097, LOC130061098, LOC130061099, LOC130061100, LOC130061101, LOC130061102, LOC130061103, LOC130061104, LOC130061105, LOC130061106, LOC130061107, LOC130061108, LOC130061109, LOC130061110, LOC130061111, LOC130061112, LOC130061113, LOC130061114, LOC130061115, LOC130061116, LOC130061117, LOC130061118, LOC130061119, LOC130061120, LOC130061121, LOC130061122, LOC130061123, LOC130061124, LOC130061125, LOC130061126, LOC130061127, LOC130061128, LOC130061129, LOC130061130, LOC130061131, LOC130061132, LOC130061133, LOC130061134, LOC130061135, LOC130061136, LOC130061137, LOC130061138, LOC130061139, LOC130061140, LOC130061141, LOC130061142, LOC130061143, LOC130061144, LOC130061145, LOC130061146, LOC130061147, LOC130061148, LOC130061149, LOC130061150, LOC130061151, LOC130061152, LOC130061153, LOC130061154, LOC130061155, LOC130061156, LOC130061157, LOC130061158, LOC130061159, LOC130061160, LOC130061161, LOC130061162, LOC130061163, LOC130061164, LOC130061165, LOC130061166, LOC130061167, LOC130061168, LOC130061169, LOC130061170, LOC130061171, LOC130061172, LOC130061173, LOC130061174, LOC130061175, LOC130061176, LOC130061177, LOC130061178, LOC130061179, LOC130061180, LOC130061181, LOC130061182, LOC130061183, LOC130061184, LOC130061185, LOC130061186, LOC130061187, LOC130061188, LOC130061189, LOC130061190, LOC130061191, LOC130061192, LOC130061193, LOC130061194, LOC130061195, LOC130061196, LOC130061197, LOC130061198, LOC130061199, LOC130061200, LOC130061201, LOC130061202, LOC130061203, LOC130061204, LOC130061205, LOC130061206, LOC130061207, LOC130061208, LOC130061209, LOC130061210, LOC130061211, LOC130061212, LOC130061213, LOC130061214, LOC130061215, LOC130061216, LOC130061217, LOC130061218, LOC130061219, LOC130061220, LOC130061221, LOC130061222, LOC130061223, LOC130061224, LOC130061225, LOC130061226, LOC130061227, LOC130061228, LOC130061229, LOC130061230, LOC130061231, LOC130061232, LOC130061233, LOC130061234, LOC130061235, LOC130061236, LOC130061237, LOC130061238, LOC130061239, LOC130061240, LOC130061241, LOC130061242, LOC130061243, LOC130061244, LOC130061245, LOC130061246, LOC130061247, LOC130061248, LOC130061249, LOC130061250, LOC130061251, LOC130061252, LOC130061253, LOC130061254, LOC130061255, LOC130061256, LOC130061257, LOC130061258, LOC130061259, LOC130061260, LOC130061261, LOC130061262, LOC130061263, LOC130061264, LOC130061265, LOC130061266, LOC130061267, LOC130061268, LOC130061269, LOC130061270, LOC130061271, LOC130061272, LOC130061273, LOC130061274, LOC130061275, LOC130061276, LOC130061277, LOC130061278, LOC130061279, LOC130061280, LOC130061281, LOC130061282, LOC130061283, LOC130061284, LOC130061285, LOC130061286, LOC130061287, LOC130061288, LOC130061289, LOC130061290, LOC130061291, LOC130061292, LOC130061293, LOC130061294, LOC130061295, LOC130061296, LOC130061297, LOC130061298, LOC130061299, LOC130061300, LOC130061301, LOC130061302, LOC130061303, LOC130061304, LOC130061305, LOC130061306, LOC130061307, LOC130061308, LOC130061309, LOC130061310, LOC130061311, LOC130061312, LOC130061313, LOC130061314, LOC130061315, LOC130061316, LOC130061317, LOC130061318, LOC130061319, LOC130061320, LOC130061321, LOC130061322, LOC130061323, LOC130061324, LOC130061325, LOC130061326, LOC130061327, LOC130061328, LOC130061329, LOC130061330, LOC130061331, LOC130061332, LOC130061333, LOC130061334, LOC130061335, LOC130061336, LOC130061337, LOC130061338, LOC130061339, LOC130061340, LOC130061341, LOC130061342, LOC130061343, LOC130061344, LOC130061345, LOC130061346, LOC130061347, LOC130061348, LOC130061349, LOC130061350, LOC130061351, LOC130061352, LOC130061353, LOC130061354, LOC130061355, LOC130061356, LOC130061357, LOC130061358, LOC130061359, LOC130061360, LOC130061361, LOC130061362, LOC130061363, LOC130061364, LOC130061365, LOC130061366, LOC130061367, LOC130061368, LOC130061369, LOC130061370, LOC130061371, LOC130061372, LOC130061373, LOC130061374, LOC130061375, LOC130061376, LOC130061377, LOC130061378, LOC130061379, LOC130061380, LOC130061381, LOC130061382, LOC130061383, LOC130061384, LOC130061385, LOC130061386, LOC130061387, LOC130061388, LOC130061389, LOC130061390, LOC130061391, LOC130061392, LOC130061393, LOC130061394, LOC130061395, LOC130061396, LOC130061397, LOC130061398, LOC130061399, LOC130061400, LOC130061401, LOC130061402, LOC130061403, LOC130061404, LOC130061405, LOC130061406, LOC130061407, LOC130061408, LOC130061409, LOC130061410, LOC130061411, LOC130061412, LOC130061413, LOC130061414, LOC130061415, LOC130061416, LOC130061417, LOC130061418, LOC130061419, LOC130061420, LOC130061421, LOC130061422, LOC130061423, LOC130061424, LOC130061425, LOC130061426, LOC130061427, LOC130061428, LOC130061429, LOC130061430, LOC130061431, LOC130061432, LOC130061433, LOC130061434, LOC130061435, LOC130061436, LOC130061437, LOC130061438, LOC130061439, LOC130061440, LOC130061441, LOC130061442, LOC130061443, LOC130061444, LOC130061445, LOC130061446, LOC130061447, LOC130061448, LOC130061449, LOC130061450, LOC130061451, LOC130061452, LOC130061453, LOC130061454, LOC130061455, LOC130061456, LOC130061457, LOC130061458, LOC130061459, LOC130061460, LOC130061461, LOC130061462, LOC130061463, LOC130061464, LOC130061465, LOC130061466, LOC130061467, LOC130061468, LOC130061469, LOC130061470, LOC130061471, LOC130061472, LOC130061473, LOC130061474, LOC130061475, LOC130061476, LOC130061477, LOC130061478, LOC130061479, LOC130061480, LOC130061481, LOC130061482, LOC130061483, LOC130061484, LOC130061485, LOC130061486, LOC130061487, LOC130061488, LOC130061489, LOC130061490, LOC130061491, LOC130061492, LOC130061493, LOC130061494, LOC130061495, LOC130061496, LOC130061497, LOC130061498, LOC130061499, LOC130061500, LOC130061501, LOC130061502, LOC130061503, LOC130061504, LOC729683, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCHF10, MARCHF10-DT, MBTD1, MED1, MED13, MED24, MEIOC, MEOX1, METTL2A, MIEN1, MILR1, MIR10226, MIR10A, MIR1203, MIR142, MIR142HG, MIR152, MIR196A1, MIR21, MIR2117, MIR2117HG, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR378J, MIR4315-1, MIR4315-2, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089, MIR548AA2, MIR548AT, MIR548BC, MIR548D2, MIR6080, MIR6129, MIR6165, MIR633, MIR634, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr17:58120809-60226090
GRCh38:
Chr17:60043448-62148729
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr17:58172700-60315303
GRCh38:
Chr17:60095339-62237942
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr17:58332553-60315303
GRCh38:
Chr17:60255192-62237942
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr17:59409262-59501380
GRCh38:
Chr17:61331901-61424019
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
7.
GRCh37:
Chr17:59477546
GRCh38:
Chr17:61400185
TBX2not providedLikely benign
(Oct 5, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr17:59477558
GRCh38:
Chr17:61400197
TBX2not providedLikely benign
(Aug 1, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr17:59477596
GRCh38:
Chr17:61400235
TBX2R20QTBX2-related condition, Vertebral anomalies and variable endocrine and T-cell dysfunctionPathogenic/Likely pathogenic
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:59477647
GRCh38:
Chr17:61400286
TBX2F37CVertebral anomalies and variable endocrine and T-cell dysfunctionLikely pathogenic
(Jul 7, 2020)
no assertion criteria provided
11.
GRCh37:
Chr17:59477668
GRCh38:
Chr17:61400307
TBX2P44Qnot specifiedUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr17:59477689
GRCh38:
Chr17:61400328
TBX2P51QInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr17:59477713
GRCh38:
Chr17:61400352
TBX2G59EInborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr17:59477728
GRCh38:
Chr17:61400367
TBX2A64VInborn genetic diseasesUncertain significance
(May 5, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr17:59477861
GRCh38:
Chr17:61400500
TBX2not providedLikely benign
(Sep 21, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr17:59477883
GRCh38:
Chr17:61400522
TBX2D116NInborn genetic diseasesUncertain significance
(Dec 27, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr17:59477903
GRCh38:
Chr17:61400542
TBX2not providedBenign
(Feb 8, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr17:59477928
GRCh38:
Chr17:61400567
TBX2G131RInborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:59479073
GRCh38:
Chr17:61401712
TBX2V142LInborn genetic diseasesUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:59479080
GRCh38:
Chr17:61401719
TBX2G144VVertebral anomalies and variable endocrine and T-cell dysfunctionUncertain significance
(May 14, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr17:59479126
GRCh38:
Chr17:61401765
TBX2not providedLikely benign
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr17:59479130
GRCh38:
Chr17:61401769
TBX2D161NVertebral anomalies and variable endocrine and T-cell dysfunctionUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:59479148
GRCh38:
Chr17:61401787
TBX2F167LVertebral anomalies and variable endocrine and T-cell dysfunctionLikely pathogenicno assertion criteria provided
24.
GRCh37:
Chr17:59479203
GRCh38:
Chr17:61401842
TBX2R185HInborn genetic diseasesUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr17:59480464
GRCh38:
Chr17:61403103
TBX2I236VInborn genetic diseasesUncertain significance
(May 30, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr17:59480503
GRCh38:
Chr17:61403142
TBX2T249SInborn genetic diseasesUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr17:59480547
GRCh38:
Chr17:61403186
TBX2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr17:59481860
GRCh38:
Chr17:61404499
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunction, TBX2-related conditionConflicting interpretations of pathogenicity
(Nov 15, 2022)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr17:59481989
GRCh38:
Chr17:61404628
TBX2L304VInborn genetic diseasesUncertain significance
(May 26, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:59481992
GRCh38:
Chr17:61404631
TBX2R305SInborn genetic diseasesUncertain significance
(Jan 10, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr17:59481993
GRCh38:
Chr17:61404632
TBX2R305HInborn genetic diseasesUncertain significance
(Oct 10, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:59482032
GRCh38:
Chr17:61404671
TBX2A318EInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:59482050
GRCh38:
Chr17:61404689
TBX2S324WInborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr17:59482065
GRCh38:
Chr17:61404704
TBX2P329Hnot providedLikely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:59482067
GRCh38:
Chr17:61404706
TBX2A330SVertebral anomalies and variable endocrine and T-cell dysfunctionUncertain significance
(Jun 16, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr17:59482084
GRCh38:
Chr17:61404723
TBX2not providedLikely benign
(May 4, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr17:59482087
GRCh38:
Chr17:61404726
TBX2not providedLikely benign
(Jun 6, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr17:59482166
GRCh38:
Chr17:61404805
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunctionBenign
(Jul 15, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr17:59482169
GRCh38:
Chr17:61404808
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunctionBenign
(Jul 15, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr17:59482173
GRCh38:
Chr17:61404812
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunctionBenign
(Jul 15, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr17:59482567
GRCh38:
Chr17:61405206
TBX2not providedBenign
(Mar 29, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr17:59482601
GRCh38:
Chr17:61405240
TBX2P364STBX2-related conditionLikely pathogenic
(Sep 15, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr17:59482631
GRCh38:
Chr17:61405270
TBX2A374TInborn genetic diseasesUncertain significance
(Mar 7, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr17:59482636
GRCh38:
Chr17:61405275
TBX2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr17:59482671
GRCh38:
Chr17:61405310
TBX2P387Lnot specifiedBenign
(May 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:59482690
GRCh38:
Chr17:61405329
TBX2not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
47.
GRCh37:
Chr17:59482699
GRCh38:
Chr17:61405338
TBX2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr17:59482723
GRCh38:
Chr17:61405362
TBX2not provided, Vertebral anomalies and variable endocrine and T-cell dysfunctionBenign/Likely benign
(Dec 1, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:59482753
GRCh38:
Chr17:61405392
TBX2D414EInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr17:59482754
GRCh38:
Chr17:61405393
TBX2G415RInborn genetic diseasesUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:59482758
GRCh38:
Chr17:61405397
TBX2P416LInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr17:59482806
GRCh38:
Chr17:61405445
TBX2K432RVertebral anomalies and variable endocrine and T-cell dysfunctionUncertain significance
(Aug 2, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr17:59482910
GRCh38:
Chr17:61405549
TBX2G467CInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:59482986
GRCh38:
Chr17:61405625
TBX2H492LInborn genetic diseasesUncertain significance
(Sep 27, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr17:59482987
GRCh38:
Chr17:61405626
TBX2not providedLikely benign
(May 3, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr17:59483027
GRCh38:
Chr17:61405666
TBX2M506VInborn genetic diseasesUncertain significance
(Apr 26, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr17:59483071
GRCh38:
Chr17:61405710
TBX2not providedLikely benign
(Sep 26, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr17:59483095
GRCh38:
Chr17:61405734
TBX2not providedLikely benign
(Apr 24, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:59483117
GRCh38:
Chr17:61405756
TBX2G536RInborn genetic diseases, not providedUncertain significance
(Oct 15, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:59483202
GRCh38:
Chr17:61405841
TBX2not providedLikely benign
(Aug 7, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr17:59485393
GRCh38:
Chr17:61408032
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunctionBenign
(Jul 15, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr17:59485440
GRCh38:
Chr17:61408079
TBX2G571Anot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr17:59485501
GRCh38:
Chr17:61408140
TBX2not providedBenign/Likely benign
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:59485506
GRCh38:
Chr17:61408145
TBX2T593NMicrocephalyUncertain significanceno assertion criteria provided
65.
GRCh37:
Chr17:59485514
GRCh38:
Chr17:61408153
TBX2A596TInborn genetic diseasesUncertain significance
(Mar 6, 2023)
criteria provided, single submitter
66.
GRCh37:
Chr17:59485525
GRCh38:
Chr17:61408164
TBX2not providedLikely benign
(May 15, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr17:59485528
GRCh38:
Chr17:61408167
TBX2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr17:59485550
GRCh38:
Chr17:61408189
TBX2R608GInborn genetic diseasesUncertain significance
(Apr 6, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr17:59485555
GRCh38:
Chr17:61408194
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunctionBenign
(Jul 15, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr17:59485575
GRCh38:
Chr17:61408214
TBX2R616Qnot providedBenign
(Dec 20, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr17:59485621
GRCh38:
Chr17:61408260
TBX2not providedLikely benign
(Dec 11, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr17:59485658
GRCh38:
Chr17:61408297
TBX2E644KInborn genetic diseasesUncertain significance
(Jan 17, 2023)
criteria provided, single submitter
73.
GRCh37:
Chr17:59485662
GRCh38:
Chr17:61408301
TBX2G645DVertebral anomalies and variable endocrine and T-cell dysfunctionUncertain significance
(May 16, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:59485694
GRCh38:
Chr17:61408333
TBX2P656Snot specifiedUncertain significance
(Oct 5, 2023)
criteria provided, single submitter
75.
GRCh37:
Chr17:59485721
GRCh38:
Chr17:61408360
TBX2R665CInborn genetic diseasesUncertain significance
(May 15, 2023)
criteria provided, single submitter
76.
GRCh37:
Chr17:59485757
GRCh38:
Chr17:61408396
TBX2P677SInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr17:59485775
GRCh38:
Chr17:61408414
TBX2E683*TBX2-related conditionUncertain significance
(Aug 9, 2023)
criteria provided, single submitter
78.
GRCh37:
Chr17:59485779
GRCh38:
Chr17:61408418
TBX2A684Vnot providedUncertain significance
(Apr 28, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr17:59485832
GRCh38:
Chr17:61408471
TBX2not providedLikely benign
(Dec 27, 2017)
criteria provided, single submitter
80.
GRCh37:
Chr17:59485850
GRCh38:
Chr17:61408489
TBX2R708WInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr17:59485853
GRCh38:
Chr17:61408492
TBX2E709KInborn genetic diseasesUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:59486085
GRCh38:
Chr17:61408724
TBX2not providedBenign
(Aug 23, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr17:58227396-59938900
not providedUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:58227396-59938900
not providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:58111094-60323067
Familial clubfoot due to 17q23.1q23.2 microduplicationLikely pathogenicno assertion criteria provided
86.
GRCh37:
Chr17:54671585-59938900
Familial aplasia of the vermis, Meckel-Gruber syndromeUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:58076721-60362868
MegacolonLikely pathogenic
(Jan 1, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr17:57869604-67078443
not providedPathogenic
(Sep 27, 2018)
no assertion criteria provided
89.
GRCh37:
Chr17:58121190-60140614
not providedLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr17:57357088-66306668
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr17:59486799-59490235
LINC02875, TBX2not providedBenign
(Apr 19, 2011)
no assertion criteria provided
92.
GRCh37:
Chr17:59482968-59490235
LINC02875, TBX2not providedBenign
(Feb 15, 2013)
no assertion criteria provided
93.
GRCh37:
Chr17:59482968-59489787
TBX2, LINC02875not providedBenign
(Mar 14, 2013)
no assertion criteria provided
94.
GRCh37:
Chr17:59479113-59490235
TBX2, LINC02875not providedBenign
(Mar 11, 2013)
no assertion criteria provided
95.
GRCh37:
Chr17:59470597-59489787
TBX2, LINC02875not providedBenign
(Mar 13, 2013)
no assertion criteria provided
96.
GRCh37:
Chr17:12344-81057996
AANAT, AARSD1, AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, ACACA, ACADVL, ACAP1, ACBD4, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADAP2, ADORA2B, ADPRM, AFMID, AIPL1, AKAP1, AKAP10, ALDH3A1, ALDH3A2, ALDOC, ALKBH5, ALOX12, ALOX12B, ALOX15, ALOX15B, ALOXE3, ALYREF, AMZ2, ANAPC11, ANKFN1, ANKFY1, ANKRD13B, ANKRD40, AOC2, AOC3, AP2B1, APOH, APPBP2, ARHGAP23, ARHGAP27, ARHGAP44, ARHGDIA, ARHGEF15, ARL16, ARL17A, ARL17B, ARL4D, ARL5C, ARMC7, ARRB2, ARSG, ASB16, ASGR1, ASGR2, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, ATP5MC1, ATP5PD, ATP6V0A1, ATPAF2, ATXN7L3, AURKB, AXIN2, B3GNTL1, B4GALNT2, B9D1, BAHCC1, BAIAP2, BCAS3, BCL6B, BECN1, BHLHA9, BIRC5, BLMH, BLTP2, BORCS6, BPTF, BRCA1, BRIP1, BTBD17, C17orf100, C17orf107, C17orf47, C17orf49, C17orf50, C17orf58, C17orf67, C17orf75, C17orf78, C17orf80, C17orf99, C1QBP, C1QL1, C1QTNF1, CA10, CA4, CACNA1G, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASC3, CASKIN2, CAVIN1, CBX1, CBX2, CBX4, CBX8, CCDC103, CCDC137, CCDC144A, CCDC40, CCDC42, CCDC43, CCDC47, CCDC57, CCL1, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCR10, CCR7, CCT6B, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD68, CD7, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK3, CDK5R1, CDK5RAP3, CDR2L, CDRT15, CDRT15L2, CDRT4, CENPV, CENPX, CEP112, CEP131, CEP95, CFAP52, CFAP97D1, CHAD, CHCT1, CHD3, CHMP6, CHRNB1, CHRNE, CISD3, CLDN7, CLEC10A, CLTC, CLUH, CNP, CNTD1, CNTNAP1, CNTROB, COA3, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COPZ2, CORO6, COX10, COX11, CPD, CPSF4L, CRHR1, CRK, CRLF3, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, CTC1, CTDNEP1, CTNS, CUEDC1, CWC25, CXCL16, CYB561, CYB5D1, CYB5D2, CYBC1, CYGB, CYTH1, DBF4B, DCAF7, DCAKD, DCXR, DDX42, DDX5, DDX52, DERL2, DGKE, DHRS11, DHRS13, DHRS7B, DHRS7C, DHX33, DHX40, DHX58, DHX8, DLG4, DLX3, DLX4, DNAH17, DNAH2, DNAH9, DNAI2, DNAJC7, DOC2B, DPH1, DRC3, DRG2, DUS1L, DUSP14, DUSP3, DVL2, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB3, EFCAB5, EFNB3, ELAC2, EFTUD2, EIF1, EIF4A1, EIF4A3, EIF5A, ELP5, EMC6, EME1, ENDOV, ENGASE, ENO3, ENPP7, EPN2, EPN3, EPOP, EPX, ERAL1, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EVPLL, EXOC7, EZH1, FAAP100, FADS6, FAM117A, FAM171A2, FAM20A, FAM222B, FAM83G, FASN, FBF1, FBXL20, FBXO39, FBXO47, FBXW10, FBXW10B, FDXR, FGF11, FKBP10, FLCN, FLII, FLOT2, FMNL1, FN3K, FN3KRP, FNDC8, FOXJ1, FOXK2, FOXN1, FSCN2, FTSJ3, FXR2, FZD2, G6PC1, G6PC3, GAA, GABARAP, GALK1, GALR2, GAS2L2, GAS7, GAST, GCGR, GDPD1, GEMIN4, GFAP, GGA3, GGNBP2, GGT6, GH1, GH2, GHDC, GID4, GIP, GIT1, GJC1, GJD3, GLOD4, GLP2R, GLTPD2, GNA13, GNGT2, GOSR1, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPRC5C, GPS1, GPS2, GRAP, GRAPL, GRB2, GRB7, GRIN2C, GRN, GSDMA, GSDMB, GUCY2D, H3-3B, HAP1, HASPIN, HCRT, HDAC5, HEATR6, HEATR9, HELZ, HES7, HEXD, HEXD-IT1, HEXIM1, HEXIM2, HGS, HIC1, HID1, HIGD1B, HLF, HNF1B, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HROB, HS3ST3A1, HS3ST3B1, HSD17B1, HSF5, HSPB9, ICAM2, IFI35, IFT20, IGF2BP1, IGFBP4, IKZF3, INCA1, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JMJD6, JPT1, JUP, KANSL1, KAT2A, KAT7, KCNAB3, KCNH4, KCNH6, KCNJ12, KCNJ16, KCNJ2, KCTD11, KCTD2, KDM6B, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KRBA2, KRT10, KRT10-AS1, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, KSR1, LASP1, LGALS3BP, LGALS9, LGALS9B, LGALS9C, LHX1, LIAT1, LIG3, LIMD2, LINC02693, LINC02875, LINC02876, LLGL1, LLGL2, LOC100288728, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC37B, LRRC3C, LRRC45, LRRC46, LRRC59, LRRC75A, LSM12, LUC7L3, LYRM9, LYZL6, MAFG, MAP2K3, MAP2K4, MAP2K6, MAP3K14, MAP3K3, MAPK7, MAPT, MARCHF10, MBTD1, MCRIP1, MED1, MED11, MED13, MED24, MED31, MED9, MEIOC, MEOX1, METRNL, METTL16, METTL23, METTL2A, MFAP4, MFSD11, MFSD6L, MGAT5B, MIEF2, MIEN1, MIF4GD, MILR1, MINK1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, MIR338, MIR33B, MIR451A, MIR497HG, MIS12, MKS1, MLLT6, MLX, MMD, MMP28, MNT, MPDU1, MPO, MPP2, MPP3, MPRIP, MRC2, MRM1, MRM3, MRPL10, MRPL12, MRPL27, MRPL38, MRPL45, MRPL58, MRPS23, MRPS7, MSI2, MSL1, MTMR4, MTRNR2L1, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYL4, MYO15A, MYO18A, MYO19, MYO1C, MYO1D, MYOCD, NAA38, NACA2, NAGLU, NAGS, NARF, NAT9, NATD1, NBR1, NBR2, NCBP3, NCOR1, NDEL1, NDUFAF8, NEK8, NEURL4, NEUROD2, NF1, NFE2L1, NGFR, NHERF1, NKIRAS2, NLE1, NLGN2, NLK, NLRP1, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NOS2, NOTUM, NPB, NPEPPS, NPLOC4, NPTX1, NR1D1, NSF, NSRP1, NT5C, NT5C3B, NT5M, NTN1, NUFIP2, NUP85, NUP88, NXN, NXPH3, ODAD4, ODF4, OGFOD3, OMG, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OR4D1, OR4D2, ORMDL3, OSBPL7, OTOP2, OTOP3, OVCA2, OXLD1, P2RX1, P2RX5, P3H4, P4HB, PAFAH1B1, PCGF2, PCTP, PCYT2, PDE6G, PDK2, PECAM1, PELP1, PEMT, PER1, PEX12, PFAS, PFN1, PGAP3, PGS1, PHB1, PHF12, PHF23, PHOSPHO1, PIGL, PIGS, PIGW, PIK3R5, PIK3R6, PIMREG, PIP4K2B, PIPOX, PIRT, PITPNA, PITPNC1, PITPNM3, PLCD3, PLD2, PLD6, PLEKHH3, PLEKHM1, PLSCR3, PLXDC1, PMP22, PNMT, PNPO, POLDIP2, POLG2, POLR2A, PPM1D, PPM1E, PPP1R1B, PPP1R27, PPP1R9B, PPY, PRAC1, PRAC2, PRCD, PRKAR1A, PRKCA, PROCA1, PRPF8, PRPSAP1, PRPSAP2, PRR11, PRR15L, PRR29, PSMB3, PSMB6, PSMC3IP, PSMC5, PSMD11, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRH2, PYCR1, PYY, QRICH2, RAB11FIP4, RAB34, RAB37, RAB40B, RAB5C, RABEP1, RAC3, RAD51C, RAD51D, RAI1, RAMP2, RANGRF, RAP1GAP2, RAPGEFL1, RARA, RASD1, RASL10B, RBFOX3, RCVRN,