KANSL1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1483631.	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 GRCh37: Chr17:57595736-73049225 GRCh38: Chr17:36449220-75053130	AARSD1, AATF, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCA9-AS1, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, 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, BECN1, BPTF, BRCA1, 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, 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, MIR1273E, MIR142, 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, 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, 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, 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, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WIPI1, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, BRIP1, BTBD17, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C17orf80, C17orf98, 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, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, ERBB2, ERN1, ETV4, EZH1, FADS6, FAM104A, FAM117A, FAM171A2, FAM187A, FAM20A, FAM215A, FAM215B, FBXL20, FBXO47, FDXR, FKBP10, FLJ40194, FLJ45513, FMNL1, FMNL1-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, 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, LOC100134391, LOC100287808, LOC100505782, LOC100507002, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928251, LOC101928343, LOC101929767, LOC102723517, LOC102724183, LOC105371763, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, 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		See cases	Pathogenic (Apr 21, 2011)	no assertion criteria provided
Select item 572822.	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 GRCh37: Chr17:48563237-65936105 GRCh38: Chr17:36449220-68170214	AARSD1, AATF, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, 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, BECN1, BPTF, BRCA1, BRIP1, C17orf113, C17orf47, C17orf58, C17orf67, C17orf78, C17orf98, 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-DT, FTSJ3, FZD2, G6PC1, G6PC3, GAST, GDPD1, GFAP, GGNBP2, GH-LCR, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HEATR6-DT, HELZ, HELZ-AS1, HEXIM1, HEXIM2, 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, LOC100287808, LOC100505782, LOC100507002, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101929767, LOC102724183, LOC105371763, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, 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, 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, MIR1273E, MIR142, 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, 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, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRAC2, 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, 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, TEX14, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, 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		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1489603.	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1 GRCh37: Chr17:43593476-44224221 GRCh38: Chr17:45516110-46211895	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Apr 4, 2013)	no assertion criteria provided
Select item 1532064.	GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1 GRCh37: Chr17:43622197-44201470 GRCh38: Chr17:45544831-46124104	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 1540065.	GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1 GRCh37: Chr17:43648491-44214888 GRCh38: Chr17:45571125-46137522	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Nov 5, 2013)	no assertion criteria provided
Select item 1483136.	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1 GRCh37: Chr17:43651731-44351152 GRCh38: Chr17:45574365-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Jan 16, 2012)	no assertion criteria provided
Select item 575247.	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1 GRCh37: Chr17:43653227-44351644 GRCh38: Chr17:45575861-46274278	ARL17B, CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1608388.	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1 GRCh37: Chr17:43655747-44351152 GRCh38: Chr17:45578381-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1481539.	GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1 GRCh37: Chr17:43655747-44224221 GRCh38: Chr17:45578381-46177048	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 14449610.	GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1 GRCh37: Chr17:43655747-44176717 GRCh38: Chr17:45578381-46130670	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Apr 30, 2010)	no assertion criteria provided
Select item 5729011.	GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1 GRCh37: Chr17:43655747-44176717 GRCh38: Chr17:45578381-46111134	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3523912.	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1 GRCh37: Chr17:43655747-44351152 GRCh38: Chr17:45578381-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Feb 18, 2011)	no assertion criteria provided
Select item 15056813.	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1 GRCh37: Chr17:43656693-44694311 GRCh38: Chr17:45579327-46661960	ARL17A, ARL17B, CRHR1, FAM215B, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC112533643, LOC121852934, LOC126862576, LOC126862577, LRRC37A, LRRC37A2, MAPT, MAPT-AS1, MAPT-IT1, NSF, SPPL2C, STH		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 15054814.	GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1 GRCh37: Chr17:43656693-44176717 GRCh38: Chr17:45579327-46130578	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 5752515.	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1 GRCh37: Chr17:43675408-44351152 GRCh38: Chr17:45598042-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5752616.	GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1 GRCh37: Chr17:43693607-44176717 GRCh38: Chr17:45616241-46136454	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15532017.	GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1 GRCh37: Chr17:43703801-44187492 GRCh38: Chr17:45626435-46110126	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 16101418.	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1 GRCh37: Chr17:43706886-44176717 GRCh38: Chr17:45629520-46111134	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14893819.	GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1 GRCh37: Chr17:43706886-44171947 GRCh38: Chr17:45629520-46094581	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 14852020.	GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3 GRCh37: Chr17:43706886-44156558 GRCh38: Chr17:45629520-46079192	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Uncertain significance (Jun 5, 2011)	no assertion criteria provided
Select item 14845121.	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1 GRCh37: Chr17:43706886-44351152 GRCh38: Chr17:45629520-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Feb 4, 2013)	no assertion criteria provided
Select item 14506722.	GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1 GRCh37: Chr17:43706886-44207977 GRCh38: Chr17:45629520-46130611	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 5753823.	GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1 GRCh37: Chr17:43706886-44176171 GRCh38: Chr17:45629520-46098805	LOC121852934, CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5752824.	GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1 GRCh37: Chr17:43706886-44129244 GRCh38: Chr17:45629520-46051878	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5727925.	GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1 GRCh37: Chr17:43706886-44138572 GRCh38: Chr17:45629520-46061206	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5705026.	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1 GRCh37: Chr17:43706886-44694283 GRCh38: Chr17:45629520-46661960	ARL17A, ARL17B, CRHR1, FAM215B, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC112533643, LOC121852934, LOC126862576, LOC126862577, LRRC37A, LRRC37A2, MAPT, MAPT-AS1, MAPT-IT1, NSF, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3201027.	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1 GRCh37: Chr17:43706886-44176717 GRCh38: Chr17:45629520-46111134	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 5753928.	GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1 GRCh37: Chr17:43715080-44176717 GRCh38: Chr17:45637714-46118962	CRHR1, KANSL1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14764629.	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1 GRCh37: Chr17:43717703-44345038 GRCh38: Chr17:45640337-46267672	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Oct 14, 2010)	no assertion criteria provided
Select item 5754030.	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1 GRCh37: Chr17:43717703-44351152 GRCh38: Chr17:45640337-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5754131.	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1 GRCh37: Chr17:43751674-44351152 GRCh38: Chr17:45674308-46273786	CRHR1, KANSL1, KANSL1-AS1, LINC02210-CRHR1, LOC121852934, LOC126862576, LRRC37A, MAPT, MAPT-AS1, MAPT-IT1, SPPL2C, STH		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 32366632.	NM_001377265.1(MAPT):c.*1039C>T GRCh37: Chr17:44102576 GRCh38: Chr17:46025210	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32366733.	NM_001377265.1(MAPT):c.*1047C>T GRCh37: Chr17:44102584 GRCh38: Chr17:46025218	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32366834.	NM_001377265.1(MAPT):c.*1067T>C GRCh37: Chr17:44102604 GRCh38: Chr17:46025238	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32366935.	NM_001377265.1(MAPT):c.*1101A>G GRCh37: Chr17:44102638 GRCh38: Chr17:46025272	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32367236.	NM_001377265.1(MAPT):c.1145_1146insT GRCh37: Chr17:44102682-44102683 GRCh38: Chr17:46025316-46025317	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32367337.	NM_001377265.1(MAPT):c.*1152G>C GRCh37: Chr17:44102689 GRCh38: Chr17:46025323	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32367738.	NM_001377265.1(MAPT):c.*1404T>C GRCh37: Chr17:44102941 GRCh38: Chr17:46025575	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32367939.	NM_001377265.1(MAPT):c.*1465C>T GRCh37: Chr17:44103002 GRCh38: Chr17:46025636	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32368140.	NM_001377265.1(MAPT):c.*1670C>T GRCh37: Chr17:44103207 GRCh38: Chr17:46025841	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32368241.	NM_001377265.1(MAPT):c.*1721C>T GRCh37: Chr17:44103258 GRCh38: Chr17:46025892	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32368442.	NM_001377265.1(MAPT):c.*1759T>C GRCh37: Chr17:44103296 GRCh38: Chr17:46025930	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32369043.	NM_001377265.1(MAPT):c.*2079C>T GRCh37: Chr17:44103616 GRCh38: Chr17:46026250	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32369144.	NM_001377265.1(MAPT):c.*2167G>A GRCh37: Chr17:44103704 GRCh38: Chr17:46026338	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32369345.	NM_001377265.1(MAPT):c.*2269G>T GRCh37: Chr17:44103806 GRCh38: Chr17:46026440	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32370446.	NM_001377265.1(MAPT):c.*2806A>C GRCh37: Chr17:44104343 GRCh38: Chr17:46026977	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32370547.	NM_001377265.1(MAPT):c.*2810G>A GRCh37: Chr17:44104347 GRCh38: Chr17:46026981	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32370948.	NM_001377265.1(MAPT):c.*2956T>C GRCh37: Chr17:44104493 GRCh38: Chr17:46027127	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32371149.	NM_001377265.1(MAPT):c.*2972T>C GRCh37: Chr17:44104509 GRCh38: Chr17:46027143	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32371250.	NM_001377265.1(MAPT):c.*2991C>T GRCh37: Chr17:44104528 GRCh38: Chr17:46027162	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32371551.	NM_001377265.1(MAPT):c.*3078= GRCh37: Chr17:44104615 GRCh38: Chr17:46027249	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32371652.	NM_001377265.1(MAPT):c.*3133A>G GRCh37: Chr17:44104670 GRCh38: Chr17:46027304	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32371953.	NM_001377265.1(MAPT):c.*3377G>C GRCh37: Chr17:44104914 GRCh38: Chr17:46027548	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32372154.	NM_001377265.1(MAPT):c.*3435T>C GRCh37: Chr17:44104972 GRCh38: Chr17:46027606	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32372255.	NM_001377265.1(MAPT):c.*3570T>C GRCh37: Chr17:44105107 GRCh38: Chr17:46027741	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32372456.	NM_001377265.1(MAPT):c.*3810G>A GRCh37: Chr17:44105347 GRCh38: Chr17:46027981	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32372657.	NM_001377265.1(MAPT):c.*3848A>G GRCh37: Chr17:44105385 GRCh38: Chr17:46028019	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32372958.	NM_001377265.1(MAPT):c.*4154T>C GRCh37: Chr17:44105691 GRCh38: Chr17:46028325	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32373059.	NM_015443.4(KANSL1):c.*1551del GRCh37: Chr17:44107291 GRCh38: Chr17:46029925	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32373160.	NM_015443.4(KANSL1):c.*1520dup GRCh37: Chr17:44107321-44107322 GRCh38: Chr17:46029955-46029956	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32373261.	NM_015443.4(KANSL1):c.*1520del GRCh37: Chr17:44107322 GRCh38: Chr17:46029956	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32373562.	NM_015443.4(KANSL1):c.*1354dup GRCh37: Chr17:44107487-44107488 GRCh38: Chr17:46030121-46030122	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32373663.	NM_015443.4(KANSL1):c.*1354del GRCh37: Chr17:44107488 GRCh38: Chr17:46030122	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32373864.	NM_015443.4(KANSL1):c.*1328del GRCh37: Chr17:44107514 GRCh38: Chr17:46030148	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32374265.	NM_015443.4(KANSL1):c.1234_1235dup GRCh37: Chr17:44107606-44107607 GRCh38: Chr17:46030240-46030241	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32374166.	NM_015443.4(KANSL1):c.*1235dup GRCh37: Chr17:44107606-44107607 GRCh38: Chr17:46030240-46030241	KANSL1, MAPT		MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32374367.	NM_015443.4(KANSL1):c.*1196T>G GRCh37: Chr17:44107646 GRCh38: Chr17:46030280	KANSL1, MAPT		MAPT-Related Spectrum Disorders, Syndromic intellectual disability	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32374468.	NM_015443.4(KANSL1):c.*1103dup GRCh37: Chr17:44107738-44107739 GRCh38: Chr17:46030372-46030373	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32374569.	NM_015443.4(KANSL1):c.*1028T>C GRCh37: Chr17:44107814 GRCh38: Chr17:46030448	KANSL1, MAPT		MAPT-Related Spectrum Disorders, Syndromic intellectual disability	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32374670.	NM_015443.4(KANSL1):c.*1027C>G GRCh37: Chr17:44107815 GRCh38: Chr17:46030449	KANSL1, MAPT		MAPT-Related Spectrum Disorders, Syndromic intellectual disability	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32374871.	NM_015443.4(KANSL1):c.*954C>G GRCh37: Chr17:44107888 GRCh38: Chr17:46030522	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32374972.	NM_015443.4(KANSL1):c.*885del GRCh37: Chr17:44107957 GRCh38: Chr17:46030591	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375173.	NM_015443.4(KANSL1):c.*742G>A GRCh37: Chr17:44108100 GRCh38: Chr17:46030734	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375274.	NM_015443.4(KANSL1):c.*640T>C GRCh37: Chr17:44108202 GRCh38: Chr17:46030836	KANSL1, MAPT		MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375475.	NM_015443.4(KANSL1):c.*626T>C GRCh37: Chr17:44108216 GRCh38: Chr17:46030850	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375676.	NM_015443.4(KANSL1):c.*487C>T GRCh37: Chr17:44108355 GRCh38: Chr17:46030989	KANSL1, MAPT		MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375777.	NM_015443.4(KANSL1):c.*388G>T GRCh37: Chr17:44108454 GRCh38: Chr17:46031088	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375878.	NM_015443.4(KANSL1):c.359_360insAGAGGGC GRCh37: Chr17:44108482-44108483 GRCh38: Chr17:46031116-46031117	KANSL1, MAPT		Syndromic intellectual disability, MAPT-Related Spectrum Disorders	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32375979.	NM_015443.4(KANSL1):c.*217C>T GRCh37: Chr17:44108625 GRCh38: Chr17:46031259	KANSL1, MAPT		MAPT-Related Spectrum Disorders, Syndromic intellectual disability	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32376080.	NM_015443.4(KANSL1):c.34_37del GRCh37: Chr17:44108805-44108808 GRCh38: Chr17:46031439-46031442	KANSL1, MAPT		MAPT-Related Spectrum Disorders, Syndromic intellectual disability, not provided	Likely benign (Jul 17, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32376181.	NM_015443.4(KANSL1):c.*28ACTA[1] GRCh37: Chr17:44108807-44108810 GRCh38: Chr17:46031441-46031444	KANSL1		Syndromic intellectual disability	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 58405682.	NC_000017.11:g.(?_46031456)_(46082562_?)del GRCh37: Chr17:44108822-44159928 GRCh38: Chr17:46031456-46082562	KANSL1		Koolen-de Vries syndrome	Pathogenic (Mar 13, 2019)	criteria provided, single submitter
Select item 58379083.	NC_000017.10:g.(?_44108822)_(44128090_?)dup GRCh37: Chr17:44108822-44128090 GRCh38: Chr17:46031456-46050724	KANSL1		Koolen-de Vries syndrome	Uncertain significance (Jan 21, 2020)	criteria provided, single submitter
Select item 125747384.	NM_015443.4(KANSL1):c.*17T>A GRCh37: Chr17:44108825 GRCh38: Chr17:46031459	KANSL1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 38196885.	NM_015443.4(KANSL1):c.*3G>A GRCh37: Chr17:44108839 GRCh38: Chr17:46031473	KANSL1		not provided	Likely benign (Oct 31, 2018)	criteria provided, single submitter
Select item 39146486.	NM_015443.4(KANSL1):c.*2C>T GRCh37: Chr17:44108840 GRCh38: Chr17:46031474	KANSL1		not specified	Likely benign (Dec 2, 2016)	criteria provided, single submitter
Select item 243295587.	NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly) GRCh37: Chr17:44108847 GRCh38: Chr17:46031481	KANSL1	R1026G, R1041G, R1042G, R1061G, R1070G, R1071G, R1104G, R1105G, R619G, R620G, R682G, R683G	Koolen-de Vries syndrome	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 42415788.	NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) GRCh37: Chr17:44108847-44108848 GRCh38: Chr17:46031481-46031482	KANSL1	H1103fs, H1104fs	not provided, Koolen-de Vries syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215748989.	NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln) GRCh37: Chr17:44108848 GRCh38: Chr17:46031482	KANSL1	H1041Q, H1025Q, H1070Q, H619Q, H682Q, H1040Q, H1069Q, H1103Q, H681Q, H1060Q, H1104Q, H618Q	Inborn genetic diseases, Koolen-de Vries syndrome	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37799590.	NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) GRCh37: Chr17:44108854 GRCh38: Chr17:46031488	KANSL1		not specified, Koolen-de Vries syndrome	Benign/Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38882391.	NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu) GRCh37: Chr17:44108855 GRCh38: Chr17:46031489	KANSL1	P1102L, P1101L	Koolen-de Vries syndrome, not specified	Conflicting interpretations of pathogenicity (Jun 4, 2022)	criteria provided, conflicting interpretations
Select item 212419792.	NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His) GRCh37: Chr17:44108858 GRCh38: Chr17:46031492	KANSL1	R1022H, R1037H, R1038H, R1067H, R1066H, R615H, R616H, R679H, R1057H, R1100H, R1101H, R678H	Koolen-de Vries syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219877693.	NM_015443.4(KANSL1):c.3300G>A (p.Gln1100=) GRCh37: Chr17:44108860 GRCh38: Chr17:46031494	KANSL1		Koolen-de Vries syndrome	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 20580194.	NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu) GRCh37: Chr17:44108862 GRCh38: Chr17:46031496	KANSL1	Q1100E, Q1099E	not provided, Koolen-de Vries syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108431095.	NM_015443.4(KANSL1):c.3294A>T (p.Thr1098=) GRCh37: Chr17:44108866 GRCh38: Chr17:46031500	KANSL1		Koolen-de Vries syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 152550896.	NM_015443.4(KANSL1):c.3292A>G (p.Thr1098Ala) GRCh37: Chr17:44108868 GRCh38: Chr17:46031502	KANSL1	T1097A, T1098A	Koolen-de Vries syndrome	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 97230497.	NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) GRCh37: Chr17:44108871 GRCh38: Chr17:46031505	KANSL1	A1097P, A1096P	Koolen-de Vries syndrome	Benign (Feb 8, 2022)	criteria provided, single submitter
Select item 208039998.	NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly) GRCh37: Chr17:44108873 GRCh38: Chr17:46031507	KANSL1	A1032G, A1096G, A1033G, A1095G, A673G, A674G, A1017G, A1061G, A610G, A1052G, A1062G, A611G	Koolen-de Vries syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 171439899.	NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val) GRCh37: Chr17:44108873 GRCh38: Chr17:46031507	KANSL1	A1017V, A1032V, A1033V, A1052V, A1061V, A1062V, A1095V, A1096V, A610V, A611V, A673V, A674V	Koolen-de Vries syndrome	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 1650209100.	NM_015443.4(KANSL1):c.3279G>A (p.Leu1093=) GRCh37: Chr17:44108881 GRCh38: Chr17:46031515	KANSL1		Koolen-de Vries syndrome	Likely benign (Nov 11, 2020)	criteria provided, single submitter

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