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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
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, BRIP1, BTBD17, C17orf113, C17orf47, C17orf58, C17orf64, 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, 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, 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, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1P2, 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, KRTAP4-2, 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, LHX1, LHX1-DT, LIMD2, LINC00469, LINC00511, LINC00671, LINC00672, 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, 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, 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, PHB, 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, 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
See casesPathogenic
(Apr 21, 2011)
no assertion criteria providedVCV000148363
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, C17orf64, 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, 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, ERBB2, EFTUD2, EIF1, EME1, EPN3, EPOP, EPX, 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, HROB, HSD17B1, HSD17B1-AS1, HSF5, HSPB9, ICAM2, IFI35, IGBP1P2, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KCNH6, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, 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, KRTAP4-2, 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, LHX1, LHX1-DT, LIMD2, LINC00671, LINC00672, 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, 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, PHB, 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 submitterVCV000057282
3.
GRCh37:
Chr17:37356126-43706945
GRCh38:
Chr17:39199873-45629579
ACLY, AOC2, ARL4D, ATP6V0A1, BRCA1, FMNL1, CDC6, CCR7, CNP, CSF3, DHX8, DUSP3, ERBB2, ETV4, EZH1, GAST, FZD2, G6PC1, KAT2A, GFAP, CCR10, GRB7, GRN, HCRT, HSD17B1, IFI35, IGFBP4, ITGA2B, JUP, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, NBR1, ADAM11, MEOX1, MPP2, MPP3, NAGLU, NEUROD2, NMT1, PNMT, MED1, PPY, PYY, PSMD3, RAB5C, RARA, RNU2-1, RPL19, RPL27, SLC4A1, SMARCE1, STAT3, STAT5A, STAT5B, MLX, THRA, TOP2A, DNAJC7, TUBG1, UBTF, RND2, CNTNAP1, TCAP, AOC3, BECN1, KRT38, KRT37, KRT36, HAP1, MAP3K14, EFTUD2, NR1D1, PLEKHM1, MED24, HDAC5, GJC1, PSME3, EIF1, NBR2, RAMP2, VAT1, P3H4, HEXIM1, C1QL1, RUNDC3A, STARD3, CASC3, IKZF3, GPATCH8, KCNH4, FAM215A, KRT23, TUBG2, NKIRAS2, COA3, PSMC3IP, SOST, RAPGEFL1, SLC25A39, HIGD1B, CDK12, KRT20, KLHL11, GSDMB, ATXN7L3, FKBP10, WNK4, HROB, TMUB2, DHX58, ACBD4, DCAKD, PLEKHH3, DBF4B, COASY, AARSD1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, ODAD4, KRTAP4-12, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, PPP1R1B, MIEN1, VPS25, TMEM101, GHDC, KRTAP4-4, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, G6PC3, ASB16, PGAP3, HSPB9, ORMDL3, PLCD3, TMEM106A, NT5C3B, ZPBP2, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, GJD3, KRT222, KRT40, CD300LG, KIF18B, RUNDC1, LINC02210, LINC00974, WIPF2, KRT25, KRT10-AS1, NAGS, RETREG3, KRT28, KRT24, ARHGAP27, ZNF385C, CFAP97D1, FAM171A2, MEIOC, GSDMA, CAVIN1, KLHL10, FMNL1-DT, ASB16-AS1, MSL1, KRT27, STAC2, KRT26, LINC00671, CCDC103, KRT39, KRTAP4-11, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, KRTAP2-3, LINC00910, KRTAP4-9, KRTAP4-7, MAP3K14-AS1, RAMP2-AS1, MIR2117, MIR4315-1, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, KRTAP9-6, FAM187A, KRTAP29-1, MIR4728, MIR548AT, MIR5010, CCDC200, PTGES3L, PTGES3L-AARSD1, SNORD124, ATXN7L3-AS1, RUNDC3A-AS1, LINC01180, RARA-AS1, LOC101929767, MIR6781, MIR6782, MIR6784, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6884, MIR6866, LOC102724183, LINC02210-CRHR1, RAB5C-AS1, LINC02594, LOC105371789, LOC105371795, MIR2117HG, LINC01976, HSD17B1-AS1, LOC110120913, LOC110121446, LOC110485084, LOC110485085, C17orf113, LOC111089947, LOC111240475, LOC111465016, LOC111589215, LOC111589216, LOC112529913, LOC112529914, LOC112533637, LOC112533638, LOC112533639, LOC112533640, LOC112533641, LOC112533642, MIR548BC, LOC113939962, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058696
4.
GRCh37:
Chr17:42983603-43297773
GRCh38:
Chr17:44906235-45220406
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000060171
5.
GRCh37:
Chr17:43005866-43377096
GRCh38:
Chr17:44928498-45299730
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059587
6.
GRCh37:
Chr17:43226665
GRCh38:
Chr17:45149298
HEXIM1not providedBenign
(Jul 17, 2018)
criteria provided, single submitterVCV000710374
7.
GRCh37:
Chr17:43246395
GRCh38:
Chr17:45169028
HEXIM2, LOC105371795P27R, P49Rnone providedUncertain significance
(Feb 12, 2020)
criteria provided, single submitterVCV000994226
8.
GRCh37:
Chr17:43315928
GRCh38:
Chr17:45238561
FMNL1not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000775325
9.
GRCh37:
Chr17:43342027
GRCh38:
Chr17:45264660
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Jul 31, 2017)
criteria provided, single submitterVCV000478060
10.
GRCh37:
Chr17:43342064
GRCh38:
Chr17:45264697
MAP3K14, MAP3K14-AS1P928HNIK deficiencyUncertain significance
(Aug 23, 2020)
criteria provided, single submitterVCV001023728
11.
GRCh37:
Chr17:43342068
GRCh38:
Chr17:45264701
MAP3K14, MAP3K14-AS1A927TNIK deficiencyUncertain significance
(Jul 5, 2018)
criteria provided, single submitterVCV000575207
12.
GRCh37:
Chr17:43342093
GRCh38:
Chr17:45264726
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV001132205
13.
GRCh37:
Chr17:43342105
GRCh38:
Chr17:45264738
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Aug 4, 2020)
criteria provided, single submitterVCV001081852
14.
GRCh37:
Chr17:43342118
GRCh38:
Chr17:45264751
MAP3K14, MAP3K14-AS1R910HNIK deficiencyUncertain significance
(Jul 16, 2019)
criteria provided, single submitterVCV000933453
15.
GRCh37:
Chr17:43342119
GRCh38:
Chr17:45264752
MAP3K14, MAP3K14-AS1R910CNIK deficiencyUncertain significance
(Aug 26, 2019)
criteria provided, single submitterVCV000938219
16.
GRCh37:
Chr17:43342141
GRCh38:
Chr17:45264774
MAP3K14, MAP3K14-AS1NIK deficiencyBenign
(Dec 5, 2020)
criteria provided, single submitterVCV001170667
17.
GRCh37:
Chr17:43342523
GRCh38:
Chr17:45265156
MAP3K14, MAP3K14-AS1not provided, NIK deficiencyLikely benign
(Apr 26, 2018)
criteria provided, single submitterVCV000758905
18.
GRCh37:
Chr17:43342525
GRCh38:
Chr17:45265158
MAP3K14, MAP3K14-AS1NIK deficiencyUncertain significance
(Dec 7, 2018)
criteria provided, single submitterVCV000640273
19.
GRCh37:
Chr17:43342541
GRCh38:
Chr17:45265174
MAP3K14, MAP3K14-AS1I890VNIK deficiencyUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV000659333
20.
GRCh37:
Chr17:43342581
GRCh38:
Chr17:45265214
MAP3K14, MAP3K14-AS1NIK deficiency, not providedLikely benign
(Aug 15, 2018)
criteria provided, single submitterVCV000745824
21.
GRCh37:
Chr17:43342594
GRCh38:
Chr17:45265227
MAP3K14, MAP3K14-AS1H872RNIK deficiencyUncertain significance
(Aug 15, 2020)
criteria provided, single submitterVCV000660828
22.
GRCh37:
Chr17:43342616
GRCh38:
Chr17:45265249
MAP3K14, MAP3K14-AS1I865VNIK deficiencyUncertain significance
(Mar 22, 2020)
criteria provided, single submitterVCV001015583
23.
GRCh37:
Chr17:43342639
GRCh38:
Chr17:45265272
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Jun 16, 2020)
criteria provided, single submitterVCV001153230
24.
GRCh37:
Chr17:43342640
GRCh38:
Chr17:45265273
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Jul 25, 2018)
criteria provided, single submitterVCV001091425
25.
GRCh37:
Chr17:43342647
GRCh38:
Chr17:45265280
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Oct 22, 2020)
criteria provided, single submitterVCV001151406
26.
GRCh37:
Chr17:43343926
GRCh38:
Chr17:45266559
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Feb 18, 2020)
criteria provided, single submitterVCV001097668
27.
GRCh37:
Chr17:43343934
GRCh38:
Chr17:45266567
MAP3K14, MAP3K14-AS1R850WNIK deficiencyUncertain significance
(Feb 18, 2019)
criteria provided, single submitterVCV000858282
28.
GRCh37:
Chr17:43343939
GRCh38:
Chr17:45266572
MAP3K14, MAP3K14-AS1R848QNIK deficiencyUncertain significance
(Nov 14, 2019)
criteria provided, single submitterVCV000651083
29.
GRCh37:
Chr17:43343962
GRCh38:
Chr17:45266595
MAP3K14, MAP3K14-AS1NIK deficiency, none providedLikely benign
(Aug 30, 2019)
criteria provided, multiple submitters, no conflictsVCV000994378
30.
GRCh37:
Chr17:43343971
GRCh38:
Chr17:45266604
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001143332
31.
GRCh37:
Chr17:43343997
GRCh38:
Chr17:45266630
MAP3K14, MAP3K14-AS1H829YNIK deficiencyUncertain significance
(Aug 28, 2019)
criteria provided, single submitterVCV000960379
32.
GRCh37:
Chr17:43344058
GRCh38:
Chr17:45266691
MAP3K14, MAP3K14-AS1NIK deficiency, none providedBenign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000544336
33.
GRCh37:
Chr17:43344440
GRCh38:
Chr17:45267073
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Oct 29, 2020)
criteria provided, single submitterVCV001102733
34.
GRCh37:
Chr17:43344456
GRCh38:
Chr17:45267089
MAP3K14, MAP3K14-AS1NIK deficiencyUncertain significance
(Jun 15, 2018)
criteria provided, single submitterVCV000574281
35.
GRCh37:
Chr17:43344474
GRCh38:
Chr17:45267107
MAP3K14, MAP3K14-AS1NIK deficiency, not providedLikely benign
(Dec 15, 2018)
criteria provided, single submitterVCV000796951
36.
GRCh37:
Chr17:43344474
GRCh38:
Chr17:45267107
MAP3K14, MAP3K14-AS1NIK deficiencyBenign
(Dec 2, 2020)
criteria provided, single submitterVCV000707986
37.
GRCh37:
Chr17:43344487
GRCh38:
Chr17:45267120
MAP3K14, MAP3K14-AS1S802TNIK deficiencyUncertain significance
(Dec 1, 2018)
criteria provided, single submitterVCV000664708
38.
GRCh37:
Chr17:43344492
GRCh38:
Chr17:45267125
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Oct 28, 2019)
criteria provided, single submitterVCV001113838
39.
GRCh37:
Chr17:43344525
GRCh38:
Chr17:45267158
MAP3K14, MAP3K14-AS1not providedLikely benign
(Dec 25, 2018)
criteria provided, single submitterVCV000797307
40.
GRCh37:
Chr17:43344561
GRCh38:
Chr17:45267194
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Jun 23, 2020)
criteria provided, single submitterVCV001111402
41.
GRCh37:
Chr17:43344563
GRCh38:
Chr17:45267196
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Nov 13, 2019)
criteria provided, single submitterVCV001105792
42.
GRCh37:
Chr17:43344769
GRCh38:
Chr17:45267402
MAP3K14, MAP3K14-AS1NIK deficiencyUncertain significance
(Jul 25, 2020)
criteria provided, single submitterVCV000859718
43.
GRCh37:
Chr17:43344786
GRCh38:
Chr17:45267419
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Nov 27, 2020)
criteria provided, single submitterVCV001087832
44.
GRCh37:
Chr17:43344787
GRCh38:
Chr17:45267420
MAP3K14, MAP3K14-AS1Q771PNIK deficiencyUncertain significance
(Jun 26, 2019)
criteria provided, single submitterVCV000544324
45.
GRCh37:
Chr17:43344791
GRCh38:
Chr17:45267424
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Aug 7, 2020)
criteria provided, single submitterVCV001145312
46.
GRCh37:
Chr17:43344801
GRCh38:
Chr17:45267434
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001147535
47.
GRCh37:
Chr17:43344806
GRCh38:
Chr17:45267439
MAP3K14, MAP3K14-AS1V765INIK deficiencyUncertain significance
(Jan 3, 2020)
criteria provided, single submitterVCV001055934
48.
GRCh37:
Chr17:43344807
GRCh38:
Chr17:45267440
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Dec 28, 2017)
criteria provided, single submitterVCV000544334
49.
GRCh37:
Chr17:43344809
GRCh38:
Chr17:45267442
MAP3K14, MAP3K14-AS1T764ANIK deficiency, none providedConflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000478059
50.
GRCh37:
Chr17:43344817
GRCh38:
Chr17:45267450
MAP3K14, MAP3K14-AS1R761QNIK deficiencyUncertain significance
(Jun 4, 2019)
criteria provided, single submitterVCV000946492
51.
GRCh37:
Chr17:43344833
GRCh38:
Chr17:45267466
MAP3K14, MAP3K14-AS1P756SNIK deficiencyUncertain significance
(Sep 24, 2019)
criteria provided, single submitterVCV000942501
52.
GRCh37:
Chr17:43344862
GRCh38:
Chr17:45267495
MAP3K14-AS1, MAP3K14S746FNIK deficiencyUncertain significance
(Feb 17, 2019)
criteria provided, single submitterVCV000862644
53.
GRCh37:
Chr17:43344918
GRCh38:
Chr17:45267551
MAP3K14, MAP3K14-AS1not providedLikely benign
(Apr 5, 2018)
criteria provided, single submitterVCV000757291
54.
GRCh37:
Chr17:43344923
GRCh38:
Chr17:45267556
MAP3K14, MAP3K14-AS1K726QNIK deficiencyUncertain significance
(Jun 12, 2020)
criteria provided, single submitterVCV001020346
55.
GRCh37:
Chr17:43344938
GRCh38:
Chr17:45267571
MAP3K14, MAP3K14-AS1P721SNIK deficiencyLikely benign
(Aug 18, 2020)
criteria provided, single submitterVCV001096320
56.
GRCh37:
Chr17:43344970-43344971
GRCh38:
Chr17:45267603-45267604
MAP3K14, MAP3K14-AS1A710fsNIK deficiencyUncertain significance
(Dec 6, 2019)
criteria provided, single submitterVCV000837870
57.
GRCh37:
Chr17:43345003
GRCh38:
Chr17:45267636
MAP3K14, MAP3K14-AS1G699ANIK deficiencyUncertain significance
(Nov 17, 2018)
criteria provided, single submitterVCV000665809
58.
GRCh37:
Chr17:43345015
GRCh38:
Chr17:45267648
MAP3K14, MAP3K14-AS1P695LNIK deficiencyUncertain significance
(Nov 9, 2019)
criteria provided, single submitterVCV000957985
59.
GRCh37:
Chr17:43345017
GRCh38:
Chr17:45267650
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV001105956
60.
GRCh37:
Chr17:43345029
GRCh38:
Chr17:45267662
MAP3K14, MAP3K14-AS1NIK deficiencyLikely benign
(Oct 5, 2020)
criteria provided, single submitterVCV001157300
61.
GRCh37:
Chr17:43345045
GRCh38:
Chr17:45267678
MAP3K14, MAP3K14-AS1T685INIK deficiencyUncertain significance
(Feb 8, 2019)
criteria provided, single submitterVCV000838874
62.
GRCh37:
Chr17:43345060
GRCh38:
Chr17:45267693
MAP3K14, MAP3K14-AS1A680VNIK deficiencyUncertain significance
(Mar 7, 2020)
criteria provided, single submitterVCV001014117
63.
GRCh37:
Chr17:43345072
GRCh38:
Chr17:45267705
MAP3K14, MAP3K14-AS1P676LNIK deficiencyUncertain significance
(Aug 19, 2019)
criteria provided, single submitterVCV000945614
64.
GRCh37:
Chr17:43345079
GRCh38:
Chr17:45267712
MAP3K14, MAP3K14-AS1H674YNIK deficiencyBenign
(Nov 11, 2020)
criteria provided, single submitterVCV000544333
65.
GRCh37:
Chr17:43347763
GRCh38:
Chr17:45270396
MAP3K14NIK deficiencyLikely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001156309
66.
GRCh37:
Chr17:43347813
GRCh38:
Chr17:45270446
MAP3K14L647VNIK deficiencyUncertain significance
(Apr 8, 2020)
criteria provided, single submitterVCV001037283
67.
GRCh37:
Chr17:43347821
GRCh38:
Chr17:45270454
MAP3K14A644VNIK deficiencyUncertain significance
(Jun 14, 2020)
criteria provided, single submitterVCV001038261
68.
GRCh37:
Chr17:43347841
GRCh38:
Chr17:45270474
MAP3K14NIK deficiency, not providedLikely benign
(Jun 4, 2020)
criteria provided, single submitterVCV000792626
69.
GRCh37:
Chr17:43347861
GRCh38:
Chr17:45270494
MAP3K14Q631ENIK deficiencyLikely benign
(May 5, 2020)
criteria provided, single submitterVCV001098055
70.
GRCh37:
Chr17:43347877
GRCh38:
Chr17:45270510
MAP3K14NIK deficiencyLikely benign
(Aug 26, 2019)
criteria provided, single submitterVCV001119802
71.
GRCh37:
Chr17:43347922
GRCh38:
Chr17:45270555
MAP3K14not providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000626135
72.
GRCh37:
Chr17:43347932-43347933
GRCh38:
Chr17:45270565-45270566
MAP3K14NIK deficiencyLikely benign
(Jul 15, 2019)
criteria provided, single submitterVCV001145735
73.
GRCh37:
Chr17:43348408
GRCh38:
Chr17:45271041
MAP3K14NIK deficiency, none providedBenign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000993493
74.
GRCh37:
Chr17:43348412
GRCh38:
Chr17:45271045
MAP3K14none provided, NIK deficiencyBenign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000993494
75.
GRCh37:
Chr17:43348430
GRCh38:
Chr17:45271063
MAP3K14L606FNIK deficiencyUncertain significance
(Aug 21, 2019)
criteria provided, single submitterVCV000955771
76.
GRCh37:
Chr17:43348437
GRCh38:
Chr17:45271070
MAP3K14NIK deficiencyLikely benign
(Feb 13, 2020)
criteria provided, single submitterVCV001103970
77.
GRCh37:
Chr17:43348443
GRCh38:
Chr17:45271076
MAP3K14NIK deficiencyLikely benign
(Nov 24, 2020)
criteria provided, single submitterVCV001151371
78.
GRCh37:
Chr17:43348448
GRCh38:
Chr17:45271081
MAP3K14F600LNIK deficiencyUncertain significance
(Oct 20, 2018)
criteria provided, single submitterVCV000660538
79.
GRCh37:
Chr17:43348452
GRCh38:
Chr17:45271085
MAP3K14Q598HNIK deficiencyUncertain significance
(Dec 18, 2018)
criteria provided, single submitterVCV000641216
80.
GRCh37:
Chr17:43348526
GRCh38:
Chr17:45271159
MAP3K14D574NNIK deficiencyUncertain significance
(May 4, 2018)
criteria provided, single submitterVCV000575824
81.
GRCh37:
Chr17:43348531
GRCh38:
Chr17:45271164
MAP3K14S572TNIK deficiencyUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV001060325
82.
GRCh37:
Chr17:43348586
GRCh38:
Chr17:45271219
MAP3K14D554YNIK deficiencyLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001149710
83.
GRCh37:
Chr17:43350870
GRCh38:
Chr17:45273503
MAP3K14G553RNIK deficiencyUncertain significance
(Sep 19, 2018)
criteria provided, single submitterVCV000652155
84.
GRCh37:
Chr17:43350876
GRCh38:
Chr17:45273509
MAP3K14L551VNIK deficiencyUncertain significance
(Feb 9, 2018)
criteria provided, single submitterVCV000577425
85.
GRCh37:
Chr17:43350892
GRCh38:
Chr17:45273525
MAP3K14NIK deficiency, not providedLikely benign
(Mar 6, 2020)
criteria provided, single submitterVCV000759244
86.
GRCh37:
Chr17:43350897
GRCh38:
Chr17:45273530
MAP3K14D544NNIK deficiencyUncertain significance
(Aug 23, 2020)
criteria provided, single submitterVCV001036570
87.
GRCh37:
Chr17:43350912
GRCh38:
Chr17:45273545
MAP3K14V539LNIK deficiencyUncertain significance
(Jan 17, 2019)
criteria provided, single submitterVCV000842747
88.
GRCh37:
Chr17:43350940
GRCh38:
Chr17:45273573
MAP3K14NIK deficiencyLikely benign
(Mar 6, 2020)
criteria provided, single submitterVCV000544328
89.
GRCh37:
Chr17:43350967
GRCh38:
Chr17:45273600
MAP3K14NIK deficiencyLikely benign
(Jul 15, 2019)
criteria provided, single submitterVCV001101060
90.
GRCh37:
Chr17:43351496
GRCh38:
Chr17:45274129
MAP3K14V516INIK deficiencyLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV000544325
91.
GRCh37:
Chr17:43351517
GRCh38:
Chr17:45274150
MAP3K14NIK deficiency, not providedLikely benign
(Jun 29, 2020)
criteria provided, single submitterVCV000735215
92.
GRCh37:
Chr17:43351524
GRCh38:
Chr17:45274157
MAP3K14NIK deficiencyLikely benign
(Nov 19, 2019)
criteria provided, single submitterVCV001089107
93.
GRCh37:
Chr17:43351553
GRCh38:
Chr17:45274186
MAP3K14G497SNIK deficiencyUncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000942478
94.
GRCh37:
Chr17:43351578
GRCh38:
Chr17:45274211
MAP3K14NIK deficiency, not providedLikely benign
(May 31, 2018)
criteria provided, single submitterVCV000762436
95.
GRCh37:
Chr17:43351587
GRCh38:
Chr17:45274220
MAP3K14not specified, NIK deficiencyLikely benign
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000709442
96.
GRCh37:
Chr17:43351827
GRCh38:
Chr17:45274460
MAP3K14NIK deficiencyUncertain significance
(Nov 14, 2018)
criteria provided, single submitterVCV000643399
97.
GRCh37:
Chr17:43351892
GRCh38:
Chr17:45274525
MAP3K14NIK deficiencyLikely benign
(Sep 15, 2020)
criteria provided, single submitterVCV001150222
98.
GRCh37:
Chr17:43351895
GRCh38:
Chr17:45274528
MAP3K14NIK deficiencyLikely benign
(Dec 5, 2019)
criteria provided, single submitterVCV001109052
99.
GRCh37:
Chr17:43351958
GRCh38:
Chr17:45274591
MAP3K14NIK deficiencyUncertain significance
(Jun 20, 2019)
criteria provided, single submitterVCV000935220
100.
GRCh37:
Chr17:43351969
GRCh38:
Chr17:45274602
MAP3K14NIK deficiencyLikely benign
(Oct 26, 2020)
criteria provided, single submitterVCV001156314
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