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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, BCAS3-AS1, BECN1, C17orf47, BPTF, BRCA1, BRIP1, BTBD17, C17orf113, C17orf58, C17orf67, C17orf78, C17orf80, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC17, CASC3, CAVIN1, CBX1, CCDC103, CCDC182, CCDC200, CCDC43, CCDC47, CCR10, CCR7, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD300LG, CD79B, CDC27, CDC42EP4, CDC6, CDK12, CDK5RAP3, CDR2L, CEP112, CEP95, CFAP97D1, CHAD, CHCT1, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COG1, COIL, COL1A1, COPZ2, COX11, CPSF4L, CRHR1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAI2, DNAJC7, DUSP14, DUSP3, DYNLL2, DYNLL2-DT, EFCAB13, EFCAB13-DT, EFCAB3, ERBB2, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, 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, LOC101928045, LOC101928251, LOC101928343, LOC101929767, LOC102723517, LOC102724183, LOC105371756, LOC105371763, LOC105371767, LOC105371773, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371856, LOC105371880, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121373, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC112533663, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC116276479, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC121852948, LOC121852949, LOC121852950, LOC125177462, LOC125177463, LOC125177464, LOC125177465, LOC125177466, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC125177492, LOC125177493, LOC125177494, LOC125177495, LOC125177496, LOC125177497, LOC125177498, LOC125177500, LOC125177501, LOC125177502, LOC125177503, LOC125177504, LOC125177505, LOC125177507, LOC125177508, LOC125177509, LOC125177510, LOC125177512, LOC125177513, LOC125177514, LOC125177515, LOC125177516, LOC125177517, LOC125177518, LOC125177519, LOC125177520, LOC125177521, LOC125177522, LOC125177523, LOC125177524, LOC125177525, LOC125177526, LOC125177527, LOC125312415, LOC125312416, LOC125312417, LOC125312418, LOC125312419, LOC125312420, LOC125316770, LOC125316771, LOC125316772, LOC125316773, LOC125316774, LOC125316775, LOC125316776, LOC125316777, LOC125316778, LOC125316779, LOC125316780, LOC125316781, LOC125316782, LOC125316783, LOC125316784, LOC125316785, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC126862550, LOC126862551, LOC126862552, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC126862576, LOC126862577, LOC126862578, LOC126862579, LOC126862580, LOC126862581, LOC126862582, LOC126862583, LOC126862584, LOC126862585, LOC126862586, LOC126862587, LOC126862588, LOC126862589, LOC126862590, LOC126862591, LOC126862592, LOC126862593, LOC126862594, LOC126862595, LOC126862596, LOC126862597, LOC126862598, LOC126862599, LOC126862600, LOC126862601, LOC126862602, LOC126862603, LOC126862604, LOC126862605, LOC126862606, LOC126862607, LOC126862608, LOC126862609, LOC126862610, LOC126862611, LOC126862612, LOC126862613, LOC126862614, LOC126862615, LOC126862616, LOC126862617, LOC126862618, LOC126862619, LOC126862620, LOC126862621, LOC126862622, LOC126862623, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC128669077, LOC128669078, 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, 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, SPMAP1, SPOP, SPPL2C, SRCIN1, SRSF1, SSTR2, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TANC2, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, TBKBP1, TBX2, TBX2-AS1, TBX21, TBX4, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM104, TMEM106A, TMEM92, TMEM92-AS1, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRC-GCA14-1, TRC-GCA2-2, TRC-GCA2-3, TRC-GCA2-4, TRC-GCA4-1, TRIM25, TRIM37, TRN-GTT2-5, TRQ-TTG1-1, TRR-CCG2-1, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRSUP-TTA1-1, TSPOAP1, TSPOAP1-AS1, TTLL6, TTYH2, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, USH1G, USP32, UTP18, VAT1, VCF1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WIPI1, WNK4, WNT3, WNT9B, XYLT2, YPEL2, ZNF385C, ZNF652, ZNF652-AS1, ZNHIT3, ZPBP2
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, C17orf67, BRCA1, BRIP1, C17orf113, C17orf47, C17orf58, 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, 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, LOC100996660, LOC101927166, LOC101927539, LOC101927557, LOC101927855, LOC101928045, LOC101929767, LOC102724183, LOC105371756, LOC105371763, LOC105371767, LOC105371773, LOC105371789, LOC105371795, LOC105371814, LOC105371824, LOC105371855, LOC105371856, LOC105980078, LOC106677019, LOC106694315, LOC106694316, LOC108004529, LOC108004536, LOC108281137, LOC109280161, LOC109286563, LOC109609706, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, LOC111089947, LOC111240475, LOC111465016, LOC111589213, LOC111589215, LOC111589216, LOC111822952, LOC112529910, LOC112529911, LOC112529912, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, LOC112533643, LOC112533644, LOC112533645, LOC112533646, LOC112533647, LOC112533648, LOC112533649, LOC112533650, LOC112533651, LOC112533652, LOC112533653, LOC112533654, LOC112533655, LOC112533658, LOC112533659, LOC112533660, LOC112533661, LOC112533662, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC120285839, LOC121587588, LOC121587589, LOC121587590, LOC121587591, LOC121587592, LOC121587593, LOC121587594, LOC121587595, LOC121587596, LOC121587597, LOC121587598, LOC121587599, LOC121587600, LOC121587601, LOC121587602, LOC121587603, LOC121587604, LOC121587605, LOC121603768, LOC121603769, LOC121603770, LOC121603771, LOC121852931, LOC121852932, LOC121852933, LOC121852934, LOC121852935, LOC121852936, LOC121852937, LOC121852938, LOC121852939, LOC121852940, LOC121852941, LOC121852942, LOC121852943, LOC121852944, LOC121852945, LOC121852946, LOC121852947, LOC125177462, LOC125177463, LOC125177464, LOC125177465, LOC125177466, LOC125177467, LOC125177469, LOC125177470, LOC125177471, LOC125177472, LOC125177473, LOC125177474, LOC125177475, LOC125177476, LOC125177477, LOC125177478, LOC125177479, LOC125177480, LOC125177481, LOC125177482, LOC125177484, LOC125177485, LOC125177486, LOC125177487, LOC125177488, LOC125177489, LOC125177490, LOC125177491, LOC125177492, LOC125177493, LOC125177494, LOC125177495, LOC125177496, LOC125177497, LOC125177498, LOC125177500, LOC125177501, LOC125177502, LOC125177503, LOC125177504, LOC125177505, LOC125177507, LOC125177508, LOC125177509, LOC125177510, LOC125177512, LOC125177513, LOC125177514, LOC125177515, LOC125177516, LOC125177517, LOC125177518, LOC125177519, LOC125177520, LOC125177521, LOC125177522, LOC125177523, LOC125177524, LOC125177525, LOC125177526, LOC125177527, LOC125312415, LOC125312416, LOC125312417, LOC125312418, LOC125312419, LOC125312420, LOC125316770, LOC125316771, LOC125316772, LOC125316773, LOC125316774, LOC125316775, LOC125316776, LOC125316777, LOC125316778, LOC125316779, LOC125316780, LOC125316781, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC126862550, LOC126862551, LOC126862552, LOC126862553, LOC126862554, LOC126862555, LOC126862556, LOC126862557, LOC126862558, LOC126862559, LOC126862560, LOC126862561, LOC126862562, LOC126862563, LOC126862564, LOC126862565, LOC126862566, LOC126862567, LOC126862568, LOC126862569, LOC126862570, LOC126862571, LOC126862572, LOC126862573, LOC126862574, LOC126862575, LOC126862576, LOC126862577, LOC126862578, LOC126862579, LOC126862580, LOC126862581, LOC126862582, LOC126862583, LOC126862584, LOC126862585, LOC126862586, LOC126862587, LOC126862588, LOC126862589, LOC126862590, LOC126862591, LOC126862592, LOC126862593, LOC126862594, LOC126862595, LOC126862596, LOC126862597, LOC126862598, LOC126862599, LOC126862600, LOC126862601, LOC126862602, LOC126862603, LOC126862604, LOC126862605, LOC126862606, LOC126862607, LOC126862608, LOC126862609, LOC126862610, LOC126862611, LOC126862612, LOC126862613, LOC126862614, LOC126862615, LOC126862616, LOC126862617, LOC126862618, LOC126862619, LOC126862620, LOC126862621, LOC126862622, LOC126862623, LOC128669077, LOC128669078, 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, 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, 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:
Chr17:37356126-43706945
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, LOC105371773, 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:
Chr17:39910778
GRCh38:
Chr17:41754526
JUPnot providedBenign
(May 12, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr17:39910860
GRCh38:
Chr17:41754608
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Uncertain significance
(Feb 23, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:39910969
GRCh38:
Chr17:41754717
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, not provided
Conflicting interpretations of pathogenicity
(May 21, 2021)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr17:39910970
GRCh38:
Chr17:41754718
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:39910982
GRCh38:
Chr17:41754730
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr17:39911090
GRCh38:
Chr17:41754838
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Uncertain significance
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:39911143
GRCh38:
Chr17:41754891
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, not provided
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr17:39911209
GRCh38:
Chr17:41754957
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr17:39911225
GRCh38:
Chr17:41754973
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Uncertain significance
(Jul 19, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:39911268
GRCh38:
Chr17:41755016
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr17:39911287
GRCh38:
Chr17:41755035
JUPArrhythmogenic right ventricular dysplasia 12, not provided, Naxos disease
Benign/Likely benign
(May 12, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:39911326
GRCh38:
Chr17:41755074
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr17:39911327
GRCh38:
Chr17:41755075
JUPArrhythmogenic right ventricular dysplasia 12, not provided, Naxos disease
Benign/Likely benign
(May 12, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:39911373
GRCh38:
Chr17:41755121
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, not provided
Conflicting interpretations of pathogenicity
(May 16, 2021)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr17:39911403
GRCh38:
Chr17:41755151
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr17:39911423
GRCh38:
Chr17:41755171
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr17:39911429
GRCh38:
Chr17:41755177
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr17:39911499
GRCh38:
Chr17:41755247
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr17:39911560
GRCh38:
Chr17:41755308
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr17:39911583
GRCh38:
Chr17:41755331
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Naxos disease,
Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(Sep 8, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:39911587
GRCh38:
Chr17:41755335
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr17:39911645
GRCh38:
Chr17:41755393
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr17:39911657
GRCh38:
Chr17:41755405
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr17:39911680
GRCh38:
Chr17:41755428
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr17:39911684
GRCh38:
Chr17:41755432
JUPnot specifiedLikely benign
(Mar 3, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr17:39911710
GRCh38:
Chr17:41755458
JUPArrhythmogenic right ventricular dysplasia 12, not provided, Naxos disease
Benign/Likely benign
(Jun 29, 2018)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:39911757
GRCh38:
Chr17:41755505
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr17:39911771
GRCh38:
Chr17:41755519
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, not provided
Benign
(Jun 15, 2018)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:39911898
GRCh38:
Chr17:41755646
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr17:39911909
GRCh38:
Chr17:41755657
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr17:39911975
GRCh38:
Chr17:41755723
JUPnot specified, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Conflicting interpretations of pathogenicity
(Apr 27, 2017)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr17:39911977
GRCh38:
Chr17:41755725
JUPArrhythmogenic right ventricular cardiomyopathyUncertain significance
(Jun 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:39911978
GRCh38:
Chr17:41755726
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, not specified
Conflicting interpretations of pathogenicity
(May 3, 2021)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr17:39911982
GRCh38:
Chr17:41755730
JUPnot specifiedLikely benign
(May 12, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:39911993
GRCh38:
Chr17:41755741
JUPnot specifiedBenign
(Jul 5, 2023)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:39911994
GRCh38:
Chr17:41755742
JUPCardiovascular phenotype, not specified, Cardiomyopathy,
Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr17:39912002
GRCh38:
Chr17:41755750
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr17:39912004
GRCh38:
Chr17:41755752
JUPCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
Likely benign
(Jan 20, 2023)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:39912007
GRCh38:
Chr17:41755755
JUPM743VCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:39912014
GRCh38:
Chr17:41755762
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12, not specified,
Cardiovascular phenotype
Likely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:39912015
GRCh38:
Chr17:41755763
JUPA740VArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:39912019
GRCh38:
Chr17:41755767
JUPT739ACardiovascular phenotypeLikely benign
(Nov 2, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:39912020
GRCh38:
Chr17:41755768
JUPCardiovascular phenotypeLikely benign
(Aug 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:39912020
GRCh38:
Chr17:41755768
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseLikely benign
(Mar 25, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr17:39912022
GRCh38:
Chr17:41755770
JUPP738SCardiovascular phenotypeUncertain significance
(Nov 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:39912023
GRCh38:
Chr17:41755771
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseLikely benign
(Oct 21, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr17:39912026
GRCh38:
Chr17:41755774
JUPCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
Likely benign
(Oct 1, 2020)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:39912026
GRCh38:
Chr17:41755774
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, Cardiovascular phenotype,
Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Conflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr17:39912027
GRCh38:
Chr17:41755775
JUPP736LCardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease, not provided, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:39912030
GRCh38:
Chr17:41755778
JUPP735LNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
Uncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:39912030
GRCh38:
Chr17:41755778
JUPP735RNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:39912031
GRCh38:
Chr17:41755779
JUPP735SArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:39912040
GRCh38:
Chr17:41755788
JUPG732SCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:39912041
GRCh38:
Chr17:41755789
JUPCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Likely benign
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:39912043
GRCh38:
Chr17:41755791
JUPD731NCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(May 21, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:39912044
GRCh38:
Chr17:41755792
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Likely benign
(Sep 3, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:39912045
GRCh38:
Chr17:41755793
JUPS730NCardiovascular phenotype, not provided, Naxos disease,
Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(Nov 26, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:39912046
GRCh38:
Chr17:41755794
JUPS730GNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
Uncertain significance
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:39912049
GRCh38:
Chr17:41755797
JUPY729NNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr17:39912055
GRCh38:
Chr17:41755803
JUPD727Nnot provided, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Conflicting interpretations of pathogenicity
(Sep 16, 2021)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr17:39912056
GRCh38:
Chr17:41755804
JUPCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12,
not specified, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr17:39912062-39912067
GRCh38:
Chr17:41755810-41755815
JUPCardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Naxos disease,
Cardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12,
not provided
Conflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr17:39912076
GRCh38:
Chr17:41755824
JUPM720VCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease
Uncertain significance
(Apr 23, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:39912078
GRCh38:
Chr17:41755826
JUPD719GNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Aug 15, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr17:39912080
GRCh38:
Chr17:41755828
JUPM718ILong QT syndromeUncertain significance
(Jul 24, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr17:39912081
GRCh38:
Chr17:41755829
JUPM718TCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(Oct 23, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:39912082
GRCh38:
Chr17:41755830
JUPM718VArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(May 12, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:39912083
GRCh38:
Chr17:41755831
JUPCardiovascular phenotypeLikely benign
(Jul 9, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr17:39912085
GRCh38:
Chr17:41755833
JUPH717DNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype,
not provided
Uncertain significance
(Sep 8, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:39912088
GRCh38:
Chr17:41755836
JUPM716VCardiovascular phenotypeUncertain significance
(Jun 30, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr17:39912089
GRCh38:
Chr17:41755837
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Likely benign
(Apr 3, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:39912093
GRCh38:
Chr17:41755841
JUPL714PArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr17:39912095
GRCh38:
Chr17:41755843
JUPArrhythmogenic right ventricular dysplasia 12, Naxos disease, not specified,
Cardiovascular phenotype
Benign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:39912097
GRCh38:
Chr17:41755845
JUPP713TNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr17:39912102
GRCh38:
Chr17:41755850
JUPL711PCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12
Uncertain significance
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:39912104
GRCh38:
Chr17:41755852
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Likely benign
(Mar 11, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr17:39912105
GRCh38:
Chr17:41755853
JUPP710HNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:39912106
GRCh38:
Chr17:41755854
JUPP710SArrhythmogenic right ventricular dysplasia 12, Naxos disease, not provided
Uncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:39912109
GRCh38:
Chr17:41755857
JUPV709MCardiovascular phenotypeUncertain significance
(Apr 30, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr17:39912112
GRCh38:
Chr17:41755860
JUPD708NCardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12, Naxos disease,
not provided
Conflicting interpretations of pathogenicity
(Sep 29, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr17:39912113
GRCh38:
Chr17:41755861
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Likely benign
(Aug 31, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:39912115-39912116
GRCh38:
Chr17:41755863-41755864
JUPS707fsNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Dec 1, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr17:39912120
GRCh38:
Chr17:41755868
JUPY705FArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:39912122
GRCh38:
Chr17:41755870
JUPM704INaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr17:39912124
GRCh38:
Chr17:41755872
JUPM704VArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:39912126
GRCh38:
Chr17:41755874
JUPP703RNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr17:39912129
GRCh38:
Chr17:41755877
JUPR702HCardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease, not provided, Left ventricular noncompaction,
Cardiomyopathy
Uncertain significance
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:39912130
GRCh38:
Chr17:41755878
JUPR702CNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Cardiovascular phenotype
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:39912132
GRCh38:
Chr17:41755880
JUPY701CNaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr17:39912135
GRCh38:
Chr17:41755883
JUPT700INaxos disease, Arrhythmogenic right ventricular dysplasia 12Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:39912136
GRCh38:
Chr17:41755884
JUPT700Anot providedUncertain significance
(Jun 6, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr17:39912139
GRCh38:
Chr17:41755887
JUPA699SCardiovascular phenotypeUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:39912145
GRCh38:
Chr17:41755893
JUPM697LCardiovascular phenotype, Naxos disease, Arrhythmogenic right ventricular dysplasia 12,
not specified, not provided, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:39912151
GRCh38:
Chr17:41755899
JUPCardiovascular phenotypeUncertain significance
(Nov 21, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr17:39912152
GRCh38:
Chr17:41755900
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12, Arrhythmogenic right ventricular dysplasia 12,
Naxos disease
Conflicting interpretations of pathogenicity
(Feb 22, 2021)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr17:39912155
GRCh38:
Chr17:41755903
JUPNaxos disease, Arrhythmogenic right ventricular dysplasia 12Likely benign
(Feb 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:39912155-39912156
GRCh38:
Chr17:41755903-41755904
JUPArrhythmogenic right ventricular dysplasia 12, Naxos diseaseLikely benign
(Jun 29, 2021)
criteria provided, single submitter
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