U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 731

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Apr 21, 2011)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr17:37356126-43706945
GRCh38:
Chr17:39199873-45629579
AARSD1, ACBD4, ACLY, ADAM11, AOC2, AOC3, ARHGAP27, ARL4D, ASB16, ASB16-AS1, ATP6V0A1, ATXN7L3, ATXN7L3-AS1, BECN1, BRCA1, C17orf113, C1QL1, CASC3, CAVIN1, CCDC103, CCDC200, CCDC43, CCR10, CCR7, CD300LG, CDC6, CDK12, CFAP97D1, CNP, CNTD1, CNTNAP1, COA3, COASY, CSF3, DBF4B, DCAKD, DHX58, DHX8, DNAJC7, DUSP3, EFTUD2, EIF1, ERBB2, ETV4, EZH1, FAM171A2, FAM187A, FAM215A, FBXL20, FKBP10, FMNL1, FMNL1-DT, FZD2, G6PC1, G6PC3, GAST, GFAP, GHDC, GJC1, GJD3, GPATCH8, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEXIM1, HEXIM2, HIGD1B, HROB, HSD17B1, HSD17B1-AS1, HSPB9, IFI35, IGFBP4, IKZF3, ITGA2B, JUP, KAT2A, KCNH4, KIF18B, KLHL10, KLHL11, 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, LINC00671, LINC00910, LINC00974, LINC01180, LINC01976, LINC02210, LINC02210-CRHR1, LINC02594, LOC100505782, LOC101929767, LOC102724183, LOC105371789, LOC105371795, LOC110120913, LOC110121446, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589215, LOC111589216, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC113939962, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121852931, LOC121852932, LOC121852933, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC128669077, LOC128669078, LRRC3C, LSM12, MAP3K14, MAP3K14-AS1, MED1, MED24, MEIOC, MEOX1, MIEN1, MIR2117, MIR2117HG, MIR4315-1, MIR4728, MIR5010, MIR548AT, MIR548BC, MIR6510, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MLX, MPP2, MPP3, MSL1, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NKIRAS2, NMT1, NR1D1, NT5C3B, ODAD4, ORMDL3, P3H4, PGAP3, PLCD3, PLEKHH3, PLEKHM1, PNMT, PPP1R1B, PPY, PSMC3IP, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PYY, RAB5C, RAB5C-AS1, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RARA-AS1, RETREG3, RND2, RNU2-1, RPL19, RPL27, RUNDC1, RUNDC3A, RUNDC3A-AS1, SLC25A39, SLC4A1, SMARCE1, SNORD124, SOST, SPATA32, STAC2, STARD3, STAT3, STAT5A, STAT5B, TCAP, THRA, TMEM101, TMEM106A, TMUB2, TNS4, TOP2A, TUBG1, TUBG2, UBTF, VAT1, VPS25, WIPF2, WNK4, ZNF385C, ZPBP2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr17:38784927
GRCh38:
Chr17:40628675
SMARCE1not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr17:38785027-38804103
GRCh38:
Chr17:40628775-40647851
SMARCE1Familial meningiomaUncertain significance
(Dec 7, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr17:38785037
GRCh38:
Chr17:40628785
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:38785038-38785039
GRCh38:
Chr17:40628786-40628787
SMARCE1Familial meningiomaUncertain significance
(Feb 24, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr17:38785040
GRCh38:
Chr17:40628788
SMARCE1Familial meningiomaUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr17:38785042
GRCh38:
Chr17:40628790
SMARCE1E411Knot provided, Familial meningioma, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr17:38785042
GRCh38:
Chr17:40628790
SMARCE1E411*Familial meningioma, not provided, Hereditary cancer-predisposing syndrome
Benign/Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:38785046
GRCh38:
Chr17:40628794
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:38785047
GRCh38:
Chr17:40628795
SMARCE1K409IFamilial meningiomaUncertain significance
(May 18, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:38785047
GRCh38:
Chr17:40628795
SMARCE1K409RHereditary cancer-predisposing syndrome, Familial meningiomaConflicting interpretations of pathogenicity
(Mar 28, 2022)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr17:38785051
GRCh38:
Chr17:40628799
SMARCE1E408KFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 19, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:38785054
GRCh38:
Chr17:40628802
SMARCE1D407NHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:38785056
GRCh38:
Chr17:40628804
SMARCE1E406AFamilial meningiomaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr17:38785058
GRCh38:
Chr17:40628806
SMARCE1Hereditary cancer-predisposing syndromeLikely benign
(Oct 3, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:38785059
GRCh38:
Chr17:40628807
SMARCE1P405LHereditary cancer-predisposing syndromeUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:38785060
GRCh38:
Chr17:40628808
SMARCE1P405AHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:38785061
GRCh38:
Chr17:40628809
SMARCE1I404MFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:38785062
GRCh38:
Chr17:40628810
SMARCE1I404THereditary cancer-predisposing syndromeUncertain significance
(Mar 1, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr17:38785063
GRCh38:
Chr17:40628811
SMARCE1I404VHereditary cancer-predisposing syndrome, Familial meningiomaConflicting interpretations of pathogenicity
(Sep 29, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr17:38785064
GRCh38:
Chr17:40628812
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:38785069
GRCh38:
Chr17:40628817
SMARCE1D402NHereditary cancer-predisposing syndromeUncertain significance
(Mar 6, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:38785071
GRCh38:
Chr17:40628819
SMARCE1T401IHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:38785073
GRCh38:
Chr17:40628821
SMARCE1Familial meningiomaLikely benign
(Nov 14, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr17:38785075
GRCh38:
Chr17:40628823
SMARCE1P400AFamilial meningiomaUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr17:38785075
GRCh38:
Chr17:40628823
SMARCE1P400SFamilial meningiomaUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:38785077
GRCh38:
Chr17:40628825
SMARCE1P399LFamilial meningiomaUncertain significance
(Dec 11, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr17:38785078
GRCh38:
Chr17:40628826
SMARCE1P399AFamilial meningiomaUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:38785082
GRCh38:
Chr17:40628830
SMARCE1Hereditary cancer-predisposing syndromeLikely benign
(Sep 30, 2020)
criteria provided, single submitter
32.
GRCh37:
Chr17:38785085
GRCh38:
Chr17:40628833
SMARCE1Hereditary cancer-predisposing syndromeLikely benign
(Oct 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:38785087
GRCh38:
Chr17:40628835
SMARCE1V396MHereditary cancer-predisposing syndromeUncertain significance
(Jan 27, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr17:38785087
GRCh38:
Chr17:40628835
SMARCE1V396LFamilial meningioma, not providedUncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:38785088
GRCh38:
Chr17:40628836
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Dec 21, 2021)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:38785090
GRCh38:
Chr17:40628838
SMARCE1T395AHereditary cancer-predisposing syndromeUncertain significance
(Dec 9, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr17:38785093
GRCh38:
Chr17:40628841
SMARCE1A394TFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:38785096
GRCh38:
Chr17:40628844
SMARCE1S393GFamilial meningiomaUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:38785097
GRCh38:
Chr17:40628845
SMARCE1Hereditary cancer-predisposing syndromeLikely benign
(Aug 25, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr17:38785099
GRCh38:
Chr17:40628847
SMARCE1N392DFamilial meningiomaUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:38785100
GRCh38:
Chr17:40628848
SMARCE1Familial meningioma, Hereditary cancer-predisposing syndromeLikely benign
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:38785101
GRCh38:
Chr17:40628849
SMARCE1S391NFamilial meningiomaUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr17:38785101
GRCh38:
Chr17:40628849
SMARCE1S391TFamilial meningiomaUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr17:38785102
GRCh38:
Chr17:40628850
SMARCE1S391GFamilial meningiomaUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr17:38785103
GRCh38:
Chr17:40628851
SMARCE1E390DFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Jul 17, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:38785106
GRCh38:
Chr17:40628854
SMARCE1Familial meningioma, Hereditary cancer-predisposing syndromeLikely benign
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:38785107
GRCh38:
Chr17:40628855
SMARCE1S389WFamilial meningiomaUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr17:38785107
GRCh38:
Chr17:40628855
SMARCE1S389LFamilial meningiomaUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:38785108
GRCh38:
Chr17:40628856
SMARCE1S389PFamilial meningiomaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr17:38785109
GRCh38:
Chr17:40628857
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:38785110
GRCh38:
Chr17:40628858
SMARCE1G388DFamilial meningiomaUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:38785114
GRCh38:
Chr17:40628862
SMARCE1T387PFamilial meningiomaUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:38785115
GRCh38:
Chr17:40628863
SMARCE1not provided, Familial meningiomaLikely benign
(Sep 8, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr17:38785117
GRCh38:
Chr17:40628865
SMARCE1N386DFamilial meningiomaUncertain significance
(May 20, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:38785118
GRCh38:
Chr17:40628866
SMARCE1S385RFamilial meningiomaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr17:38785121
GRCh38:
Chr17:40628869
SMARCE1Familial meningioma, Hereditary cancer-predisposing syndromeLikely benign
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:38785124
GRCh38:
Chr17:40628872
SMARCE1Hereditary cancer-predisposing syndromeLikely benign
(Mar 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:38785125
GRCh38:
Chr17:40628873
SMARCE1S383NFamilial meningiomaUncertain significance
(Sep 5, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:38785126
GRCh38:
Chr17:40628874
SMARCE1S383GHereditary cancer-predisposing syndromeUncertain significance
(Sep 18, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr17:38785127
GRCh38:
Chr17:40628875
SMARCE1Familial meningiomaLikely benign
(Jun 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:38785128
GRCh38:
Chr17:40628876
SMARCE1T382SFamilial meningiomaUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:38785128
GRCh38:
Chr17:40628876
SMARCE1T382IFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 8, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:38785129
GRCh38:
Chr17:40628877
SMARCE1T382AFamilial meningiomaUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:38785130
GRCh38:
Chr17:40628878
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Aug 4, 2020)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:38785135-38785138
GRCh38:
Chr17:40628883-40628886
SMARCE1E379fsHereditary cancer-predisposing syndromeUncertain significance
(Apr 2, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr17:38785140
GRCh38:
Chr17:40628888
SMARCE1A378VHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:38785143
GRCh38:
Chr17:40628891
SMARCE1M377TFamilial meningiomaUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:38785144
GRCh38:
Chr17:40628892
SMARCE1M377VHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Sep 30, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:38785147
GRCh38:
Chr17:40628895
SMARCE1S376RFamilial meningiomaUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr17:38785147
GRCh38:
Chr17:40628895
SMARCE1S376GFamilial meningiomaUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr17:38785148
GRCh38:
Chr17:40628896
SMARCE1Familial meningioma, Hereditary cancer-predisposing syndromeLikely benign
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:38785150
GRCh38:
Chr17:40628898
SMARCE1D375NFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:38785151
GRCh38:
Chr17:40628899
SMARCE1Familial meningiomaLikely benign
(Sep 10, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr17:38785151
GRCh38:
Chr17:40628899
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr17:38785152
GRCh38:
Chr17:40628900
SMARCE1V374AHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Dec 16, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:38785153
GRCh38:
Chr17:40628901
SMARCE1V374LFamilial meningiomaUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr17:38785156
GRCh38:
Chr17:40628904
SMARCE1G373RFamilial meningiomaUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:38785158
GRCh38:
Chr17:40628906
SMARCE1E372VHereditary cancer-predisposing syndromeUncertain significance
(Feb 13, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr17:38785158
GRCh38:
Chr17:40628906
SMARCE1E372AFamilial meningiomaUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr17:38785163
GRCh38:
Chr17:40628911
SMARCE1Hereditary cancer-predisposing syndrome, Familial meningiomaLikely benign
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:38785164
GRCh38:
Chr17:40628912
SMARCE1G370EFamilial meningiomaUncertain significance
(Nov 10, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr17:38785164
GRCh38:
Chr17:40628912
SMARCE1G370VHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Oct 30, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:38785165
GRCh38:
Chr17:40628913
SMARCE1G370RFamilial meningiomaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr17:38785167
GRCh38:
Chr17:40628915
SMARCE1S369TFamilial meningiomaUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:38785169
GRCh38:
Chr17:40628917
SMARCE1E368DFamilial meningiomaUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:38785170
GRCh38:
Chr17:40628918
SMARCE1E368GFamilial meningiomaUncertain significance
(Oct 16, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:38785171
GRCh38:
Chr17:40628919
SMARCE1E368*Familial meningiomaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr17:38785172
GRCh38:
Chr17:40628920
SMARCE1Familial meningioma, Hereditary cancer-predisposing syndromeBenign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:38785175
GRCh38:
Chr17:40628923
SMARCE1Hereditary cancer-predisposing syndromeLikely benign
(Mar 24, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr17:38785177
GRCh38:
Chr17:40628925
SMARCE1D366Nnot providedUncertain significance
(Jul 17, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr17:38785178
GRCh38:
Chr17:40628926
SMARCE1E365DFamilial meningioma, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:38785181
GRCh38:
Chr17:40628929
SMARCE1Familial meningiomaLikely benign
(Mar 12, 2020)
criteria provided, single submitter
93.
GRCh37:
Chr17:38785181-38785183
GRCh38:
Chr17:40628929-40628931
SMARCE1P364delFamilial meningiomaUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr17:38785183
GRCh38:
Chr17:40628931
SMARCE1P364AFamilial meningiomaUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr17:38785183
GRCh38:
Chr17:40628931
SMARCE1P364SHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(May 23, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:38785184
GRCh38:
Chr17:40628932
SMARCE1Hereditary cancer-predisposing syndrome, not provided, Familial meningioma
Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:38785185
GRCh38:
Chr17:40628933
SMARCE1T363IFamilial meningiomaUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:38785185
GRCh38:
Chr17:40628933
SMARCE1T363SFamilial meningiomaUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr17:38785186-38785187
GRCh38:
Chr17:40628934-40628935
SMARCE1T363SFamilial meningiomaUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr17:38785186
GRCh38:
Chr17:40628934
SMARCE1T363AHereditary cancer-predisposing syndrome, Familial meningiomaUncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination