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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:57595736-73049225
GRCh38:
Chr17:36449220-75053130
UTP18, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, VPS25, WIPI1, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2, VAT1, TUBG1, TUBG2, UBE2Z, UBTF, USH1G, TUBD1, WFIKKN2, WIPF2, VMP1, VCF1, VEZF1, USP32, TTYH2, TSPOAP1, TSPOAP1-AS1, TTLL6, 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, BCAS3-AS1, BECN1, 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, EFTUD2, EIF1, EME1, 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, GNA13, GNGT2, GOSR2, 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, LOC100134391, LOC100287808, LOC100505782, LOC100507002, LOC100996660, 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, 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, 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, PRAC2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, 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, 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
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, BCAS3-AS1, BECN1, BPTF, BRCA1, BRIP1, C17orf113, C17orf58, 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, GNA13, GNGT2, GOSR2, 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, KRT32, KRT222, KRT23, KRT33A, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, 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, LOC100996660, 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, 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, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr17:37192290-37850932
GRCh38:
Chr17:39036037-39694679
See casesLikely benign
(Apr 4, 2013)
no assertion criteria provided
4.
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-AS1, FMNL1-DT, FZD2, G6PC1, G6PC3, GAST, GFAP, GHDC, GJC1, GJD3, GPATCH8, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEXIM1, HEXIM2, HEXIM2-AS1, 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
5.
GRCh37:
Chr17:37821275
GRCh38:
Chr17:39665022
TCAPnot providedBenign
(Jun 28, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr17:37821435
GRCh38:
Chr17:39665182
TCAPnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr17:37821595
GRCh38:
Chr17:39665342
TCAPnot specifiedLikely benign
(Jul 13, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr17:37821600
GRCh38:
Chr17:39665347
TCAPAutosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified
Likely benign
(Sep 7, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:37821613
GRCh38:
Chr17:39665360
TCAPM1VPrimary familial hypertrophic cardiomyopathyLikely pathogenic
(Aug 7, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr17:37821624-37821625
GRCh38:
Chr17:39665371-39665372
TCAPE5fsAbnormality of the musculatureLikely pathogenic
(Jul 10, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr17:37821628
GRCh38:
Chr17:39665375
TCAPL6MHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, not specified,
not provided
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:37821634
GRCh38:
Chr17:39665381
TCAPC8RHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:37821634
GRCh38:
Chr17:39665381
TCAPC8SHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr17:37821635
GRCh38:
Chr17:39665382
TCAPC8FPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Uncertain significance
(Aug 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:37821635-37821636
GRCh38:
Chr17:39665382-39665383
TCAPE12fsPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, not provided
Pathogenic
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:37821636
GRCh38:
Chr17:39665383
TCAPCardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
Likely benign
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:37821636-37821637
GRCh38:
Chr17:39665383-39665384
TCAPS11*Autosomal recessive limb-girdle muscular dystrophy type 2GLikely pathogenic
(Aug 6, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr17:37821644-37821645
GRCh38:
Chr17:39665391-39665392
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(May 9, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:37821644-37821645
GRCh38:
Chr17:39665391-39665392
TCAPE12fsHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Abnormality of the musculature,
Autosomal recessive limb-girdle muscular dystrophy type 2G
Pathogenic/Likely pathogenic
(Jul 10, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:37821644
GRCh38:
Chr17:39665391
TCAPS11LCardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not specified, not provided, Cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr17:37821644
GRCh38:
Chr17:39665391
TCAPS11*Autosomal recessive limb-girdle muscular dystrophy type 2GLikely pathogenic
(Nov 4, 2013)
no assertion criteria provided
22.
GRCh37:
Chr17:37821645
GRCh38:
Chr17:39665392
TCAPCardiovascular phenotypeLikely benign
(Jul 11, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:37821645
GRCh38:
Chr17:39665392
TCAPE12fsHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyPathogenic
(Sep 9, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:37821645
GRCh38:
Chr17:39665392
TCAPPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Likely benign
(Jan 22, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr17:37821645
GRCh38:
Chr17:39665392
TCAPnot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 25,
Primary familial hypertrophic cardiomyopathy
Likely benign
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:37821649-37821651
GRCh38:
Chr17:39665392-39665394
TCAPE13delHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype,
not specified, not provided, Cardiomyopathy,
Long QT syndrome, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 25
Conflicting interpretations of pathogenicity
(Aug 1, 2023)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr17:37821648
GRCh38:
Chr17:39665395
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Mar 12, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:37821649
GRCh38:
Chr17:39665396
TCAPE13KHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:37821653-37821654
GRCh38:
Chr17:39665400-39665401
TCAPnot provided, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:37821655-37821656
GRCh38:
Chr17:39665402-39665403
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyPathogenic
(Aug 6, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:37821658
GRCh38:
Chr17:39665405
TCAPE16KPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:37821661
GRCh38:
Chr17:39665408
TCAPR17Cnot provided, Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 25, Primary dilated cardiomyopathy
Uncertain significance
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:37821662
GRCh38:
Chr17:39665409
TCAPR17HHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:37821662
GRCh38:
Chr17:39665409
TCAPR17Pnot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 25,
Primary familial hypertrophic cardiomyopathy
Uncertain significance
(Apr 7, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:37821662-37821663
GRCh38:
Chr17:39665409-39665410
TCAPR17PHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
Uncertain significance
(Apr 18, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:37821663
GRCh38:
Chr17:39665410
TCAPCardiovascular phenotypeLikely benign
(Apr 7, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr17:37821664
GRCh38:
Chr17:39665411
TCAPR18WCardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not provided
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:37821665
GRCh38:
Chr17:39665412
TCAPR18Qnot provided, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Uncertain significance
(Aug 28, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:37821666
GRCh38:
Chr17:39665413
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25, not provided, Cardiovascular phenotype
Likely benign
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:37821670
GRCh38:
Chr17:39665417
TCAPA20SPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr17:37821672
GRCh38:
Chr17:39665419
TCAPCardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2G,
Hypertrophic cardiomyopathy 25
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr17:37821678
GRCh38:
Chr17:39665425
TCAPW22*Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G, not provided, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 25
Pathogenic/Likely pathogenic
(Jun 13, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:37821682
GRCh38:
Chr17:39665429
TCAPE24QCardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:37821687
GRCh38:
Chr17:39665434
TCAPW25*Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
Pathogenic/Likely pathogenic
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:37821694
GRCh38:
Chr17:39665441
TCAPCardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Likely benign
(Apr 21, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:37821699
GRCh38:
Chr17:39665446
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Mar 23, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr17:37821699
GRCh38:
Chr17:39665446
TCAPPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Cardiovascular phenotype
Likely benign
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:37821700
GRCh38:
Chr17:39665447
TCAPnot specifiedBenign
(Apr 3, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr17:37821700
GRCh38:
Chr17:39665447
TCAPL30VHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr17:37821701-37821702
GRCh38:
Chr17:39665448-39665449
TCAPS31fsAbnormality of the musculatureLikely pathogenic
(Jul 10, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr17:37821704
GRCh38:
Chr17:39665451
TCAPS31CPrimary familial hypertrophic cardiomyopathyUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr17:37821706
GRCh38:
Chr17:39665453
TCAPT32SCardiovascular phenotypeUncertain significance
(Jan 30, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:37821709
GRCh38:
Chr17:39665456
TCAPR33Wnot provided, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 1,
Cardiovascular phenotype
Uncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:37821710
GRCh38:
Chr17:39665457
TCAPR33LPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Uncertain significance
(Mar 8, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:37821710
GRCh38:
Chr17:39665457
TCAPR33QCardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not provided
Uncertain significance
(Mar 20, 2023)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:37821714
GRCh38:
Chr17:39665461
TCAPPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Likely benign
(May 27, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr17:37821714
GRCh38:
Chr17:39665461
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Apr 23, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:37821715
GRCh38:
Chr17:39665462
TCAPE35*not provided, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
Pathogenic
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:37821717
GRCh38:
Chr17:39665464
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr17:37821719-37821720
GRCh38:
Chr17:39665466-39665467
TCAPCardiovascular phenotypeLikely pathogenic
(May 22, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr17:37821720
GRCh38:
Chr17:39665467
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Jan 15, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr17:37821720-37821721
GRCh38:
Chr17:39665467-39665468
TCAPCardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
Pathogenic
(Jul 7, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:37821723
GRCh38:
Chr17:39665470
TCAPAutosomal recessive limb-girdle muscular dystrophy type 2GLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:37821724
GRCh38:
Chr17:39665471
TCAPPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Pathogenic
(Aug 10, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr17:37821727
GRCh38:
Chr17:39665474
TCAPPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Pathogenic
(Dec 2, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr17:37821727
GRCh38:
Chr17:39665474
TCAPnot providedLikely pathogenic
(Jul 26, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:37821728
GRCh38:
Chr17:39665475
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:37821729
GRCh38:
Chr17:39665476
TCAPnot specifiedLikely benigncriteria provided, single submitter
69.
GRCh37:
Chr17:37821732
GRCh38:
Chr17:39665479
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:37821735
GRCh38:
Chr17:39665482
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:37821737
GRCh38:
Chr17:39665484
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Jun 22, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:37821738
GRCh38:
Chr17:39665485
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr17:37821740
GRCh38:
Chr17:39665487
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Apr 13, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr17:37821770
GRCh38:
Chr17:39665517
TCAPnot provided, not specifiedBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr17:37821950-37821951
GRCh38:
Chr17:39665697-39665698
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy, not specified
Benign/Likely benign
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:37821952
GRCh38:
Chr17:39665699
TCAPnot specified, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:37821953
GRCh38:
Chr17:39665700
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Oct 3, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:37821953
GRCh38:
Chr17:39665700
TCAPnot provided, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:37821954
GRCh38:
Chr17:39665701
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Oct 21, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:37821955
GRCh38:
Chr17:39665702
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Jun 10, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:37821956
GRCh38:
Chr17:39665703
TCAPHypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2GUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr17:37821956
GRCh38:
Chr17:39665703
TCAPHypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2GUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr17:37821969
GRCh38:
Chr17:39665716
TCAPPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Uncertain significance
(Oct 20, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:37821971
GRCh38:
Chr17:39665718
TCAPC38FAutosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, not specified,
Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25,
not provided, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 26, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr17:37821974
GRCh38:
Chr17:39665721
TCAPS39CPrimary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr17:37821975
GRCh38:
Chr17:39665722
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Aug 19, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr17:37821976
GRCh38:
Chr17:39665723
TCAPnot providedUncertain significance
(Mar 10, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr17:37821982-37821984
GRCh38:
Chr17:39665729-39665731
TCAPE43delHypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 25,
Primary familial hypertrophic cardiomyopathy
Uncertain significance
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:37821985
GRCh38:
Chr17:39665732
TCAPE43Knot providedUncertain significance
(Jun 13, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr17:37821987
GRCh38:
Chr17:39665734
TCAPHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyLikely benign
(Oct 22, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr17:37821988
GRCh38:
Chr17:39665735
TCAPD44NHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:37821990
GRCh38:
Chr17:39665737
TCAPCardiovascular phenotype, Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy,
not specified, not provided, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr17:37821992
GRCh38:
Chr17:39665739
TCAPT45IHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:37821994-37821995
GRCh38:
Chr17:39665741-39665742
TCAPQ46fsHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyPathogenic
(Aug 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:37821995
GRCh38:
Chr17:39665742
TCAPQ46RHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr17:37822003
GRCh38:
Chr17:39665750
TCAPE49KHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr17:37822006-37822009
GRCh38:
Chr17:39665753-39665756
TCAPY51fsHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyPathogenic
(Jan 26, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:37822006
GRCh38:
Chr17:39665753
TCAPT50AHypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr17:37822015
GRCh38:
Chr17:39665762
TCAPQ53*Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25,
Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25, Autosomal recessive limb-girdle muscular dystrophy type 2G
Pathogenic/Likely pathogenic
(Jul 21, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr17:37822024
GRCh38:
Chr17:39665771
TCAPQ56*Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25Pathogenic
(Nov 12, 2021)
criteria provided, single submitter
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