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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:57595736-73049225
GRCh38:
Chr17:36449220-75053130
ACACA, ACLY, AOC2, APOH, ARL4D, ATP5MC1, ATP6V0A1, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD79B, CDC6, CDC27, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DUSP3, ERBB2, ERN1, ETV4, EZH1, BPTF, FDXR, GAST, FZD2, G6PC, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, GRB7, GRN, GRIN2C, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, ITGA2B, ITGA3, ITGB3, JUP, KCNJ2, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LHX1, LPO, NBR1, MAPT, ADAM11, MAP3K3, MEOX1, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, NAGLU, NEUROD2, NFE2L1, NGFR, NME1, NME2, NMT1, NSF, PDK2, PECAM1, PHB, PNMT, SEPTIN4, MED1, PPY, PRKAR1A, PRKCA, MAP2K6, PSMB3, PYY, PSMC5, PSMD3, PSMD12, RAB5C, RAD51C, RARA, RNU2-1, RPL19, RPL27, RPL38, RPS6KB1, SCN4A, SRSF1, SGCA, SLC4A1, SMARCD2, SMARCE1, SOX9, SP2, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, TADA2A, TBX2, HNF1B, MLX, THRA, TOP2A, TRQ-TTG1-1, TRR-CCG2-1, DNAJC7, TUBG1, UBTF, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, PPM1D, CNTNAP1, DGKE, TCAP, SKAP1, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, CACNA1G, HAP1, MAP3K14, SPAG9, MTMR4, SLC16A6, NOG, TSPOAP1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, TBX4, NPEPPS, GOSR2, NR1D1, TBKBP1, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, ATP5PD, HOXB13, VAT1, APPBP2, P3H4, HEXIM1, IGF2BP1, GNA13, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, TLK2, DDX52, DUSP14, KAT7, POLG2, NXPH3, SNF8, SYNRG, CD300A, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, GPATCH8, KCNH4, ABCA6, ABCA5, KCTD2, MMD, CDC42EP4, FAM215A, NOL11, KRT23, TANC2, NAT9, PITPNC1, AATF, OR4D1, CACNG5, CACNG4, TUBG2, NKIRAS2, COA3, PSMC3IP, SNX11, TBX21, SOCS7, CDR2L, SOST, UTP18, RNFT1, TUBD1, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, AMZ2, ARL17A, SLC25A39, MRPS23, PTRH2, LUC7L3, HIGD1B, CDK12, KRT20, SDK2, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, RNF43, MKS1, ANKRD40CL, C17orf80, EPN3, WIPI1, PNPO, KLHL11, SMG8, TMEM100, RSAD1, LRRC59, PRR11, TEX2, GSDMB, GPRC5C, TEX14, CA10, ATXN7L3, CCDC47, PLXDC1, INTS2, ARHGAP23, PCTP, SCPEP1, FKBP10, HEATR6, XYLT2, DNAI2, SMURF2, SPATA20, UBE2Z, WNK4, HROB, TMUB2, DHX58, DHRS11, PRR15L, DHX40, ACBD4, DCAKD, GGNBP2, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, TTC25, KRTAP4-12, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, PPP1R1B, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, FAM104A, TNS4, FBXL20, MGC16275, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, LRRC46, SCRN2, CEP95, ANKRD40, STRADA, PRR29, G6PC3, ASB16, OTOP2, PGAP3, TTYH2, HSPB9, ORMDL3, PLCD3, TMEM106A, OSBPL7, NT5C3B, FTSJ3, HSF5, OR4D2, MSI2, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, WFIKKN2, FLJ40194, B4GALNT2, EFCAB13, MRPL10, GJD3, KRT222, KRT40, DYNLL2, CD300LF, C17orf77, EFCAB3, LINC02003, CD300LG, KIF18B, RUNDC1, EME1, LINC02210, LINC00974, WIPF2, KRT25, TMEM99, ANKFN1, MARCHF10, NAGS, RETREG3, TMEM92, PHOSPHO1, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, SLC39A11, STH, STXBP4, CACNA1G-AS1, TAC4, LINC00469, FADS6, HID1, C17orf58, MILR1, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, PICART1, C17orf47, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, GDPD1, KLHL10, RAB37, METTL2A, LOC339192, ASB16-AS1, C17orf67, MSL1, CD300E, NACA2, KRT27, STAC2, OTOP3, SKA2, GPR142, KRT26, PRAC2, LRRC37A3, C17orf98, LINC00671, CCDC103, RPRML, YPEL2, LINC01999, LINC02875, BTBD17, ARL5C, KRT39, TOB1-AS1, PRR29-AS1, KCNJ2-AS1, SOX9-AS1, LINC00511, LINC02092, CUEDC1, HOXB-AS3, MIR10A, MIR142, MIR152, MIR196A1, MIR21, MIR301A, TBC1D3C, GPR179, LINC02072, LRRC37A2, FBXO47, SNORA21, CPSF4L, KANSL1-AS1, FAM215B, KRTAP4-11, NME1-NME2, SCARNA20, SNORA50C, SNORD104, MIR548D2, MIR633, MIR634, MIR635, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, FLJ45513, LOC729683, TBC1D3, KRTAP2-3, MIR454, SNORA38B, MAPT-AS1, MAPT-IT1, CD300H, LINC00910, CD300LD, KRTAP4-9, KRTAP4-7, PRO1804, MAP3K14-AS1, LOC100134391, EPOP, TRC-GCA2-2, TRR-CCT1-1, TRSUP-TTA1-1, TRC-GCA4-1, TRC-GCA2-3, TRN-GTT2-5, TRR-CCT2-1, TRR-TCG3-1, TRC-GCA2-4, TRC-GCA14-1, RAMP2-AS1, LOC100287808, LOC100288866, MIR1203, MIR2117, MIR4315-2, MIR2909, MIR3185, MIR4315-1, LINC00674, LINC00673, MIR3614, MIR3615, MIR548AA2, LINC00672, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, ARL17B, SP2-AS1, LINC02876, TSPOAP1-AS1, LOC100507002, KRTAP9-6, TBC1D3J, MIR1273E, FAM187A, KRTAP29-1, MIR4728, MIR4726, MIR4734, MIR4729, MIR4737, MIR4736, MIR4524A, MIR3064, MIR5047, MIR4727, MIR4524B, MIR548AT, MIR5010, MIR5089, CCDC200, HOXB-AS1, PTGES3L, PTGES3L-AARSD1, TBC1D3K, TBC1D3L, TBC1D3D, SNORD124, RUNDC3A-AS1, LINC01180, LOC101927166, LINC02075, LINC01969, LINC02071, LOC101927539, LOC101927557, CCDC182, LOC101927666, SEPTIN4-AS1, LINC01476, RNFT1-DT, LOC101927855, MARCHF10-DT, PRKCA-AS1, LOC101928021, LINC01482, LINC01483, LINC01028, CASC17, LINC02097, LOC101928251, LOC101928343, RARA-AS1, LOC101929767, MIR6080, MIR378J, MIR6129, MIR6165, MIR6779, MIR6781, MIR6782, MIR6784, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6884, MIR8059, MIR6866, LINC01152, LHX1-DT, LINC01497, ROCR, LOC102723517, LINC02074, HID1-AS1, TBC1D3E, LOC102724183, THCAT158, LOC102724532, LOC102724596, TBX2-AS1, TMEM92-AS1, ABCA9-AS1, LINC02210-CRHR1, LOC105371763, LINC02079, LINC02594, LOC105371789, LOC105371795, LINC01974, THRA1/BTR, LINC02086, LOC105371814, LOC105371824, LINC02073, LINC01982, LINC02089, LOC105371849, LOC105371855, LOC105371880, SNHG25, LINC02563, LOC105980078, GH-LCR, SNORA90, MIR2117HG, LOC106677019, LOC106694315, LOC106694316, LINC01976, LOC108004529, LOC108004536, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, SOX9CRE1, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108281137, LOC108783654, LOC109280161, LOC109286563, LOC109609706, SNORA21B, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121373, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, C17orf113, 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, MIR10226, MIR548BC, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, LOC116276479
See casesPathogenic
(Apr 21, 2011)
no assertion criteria providedVCV000148363
2.
GRCh37:
Chr17:48563237-65936105
GRCh38:
Chr17:36449220-68170214
MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, NAGLU, NEUROD2, NFE2L1, NGFR, NME1, NME2, NMT1, NSF, PDK2, PECAM1, PHB, PNMT, SEPTIN4, MED1, PPY, PRKCA, PSMB3, PYY, PSMC5, PSMD3, PSMD12, RAB5C, RAD51C, RARA, RNU2-1, RPL19, RPL27, RPS6KB1, SCN4A, SRSF1, SGCA, SLC4A1, SMARCD2, SMARCE1, SP2, STAT3, STAT5A, STAT5B, SUPT4H1, TADA2A, TBX2, HNF1B, MLX, THRA, TOP2A, TRQ-TTG1-1, TRR-CCG2-1, DNAJC7, TUBG1, UBTF, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, PPM1D, CNTNAP1, DGKE, TCAP, SKAP1, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, CACNA1G, HAP1, MAP3K14, SPAG9, MTMR4, NOG, TSPOAP1, ZNHIT3, EFTUD2, RPL23, TBX4, NPEPPS, GOSR2, NR1D1, TBKBP1, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, HOXB13, VAT1, APPBP2, P3H4, HEXIM1, IGF2BP1, GNA13, C1QL1, RUNDC3A, STARD3, CBX1, TLK2, DDX52, DUSP14, KAT7, POLG2, NXPH3, SNF8, SYNRG, DDX42, CASC3, IKZF3, ZNF652, PPM1E, GPATCH8, KCNH4, MMD, FAM215A, NOL11, KRT23, TANC2, PITPNC1, AATF, OR4D1, CACNG5, CACNG4, TUBG2, NKIRAS2, COA3, PSMC3IP, SNX11, TBX21, SOCS7, SOST, UTP18, RNFT1, TUBD1, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, ARL17A, SLC25A39, MRPS23, PTRH2, LUC7L3, HIGD1B, CDK12, KRT20, MBTD1, BCAS3, CWC25, RNF43, MKS1, ANKRD40CL, EPN3, PNPO, KLHL11, SMG8, TMEM100, RSAD1, LRRC59, PRR11, TEX2, GSDMB, TEX14, CA10, ATXN7L3, CCDC47, PLXDC1, INTS2, ARHGAP23, PCTP, SCPEP1, FKBP10, HEATR6, XYLT2, SMURF2, SPATA20, UBE2Z, WNK4, HROB, TMUB2, DHX58, DHRS11, PRR15L, DHX40, ACBD4, DCAKD, GGNBP2, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, TTC25, KRTAP4-12, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, PPP1R1B, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, LRRC46, SCRN2, CEP95, ANKRD40, STRADA, PRR29, G6PC3, ASB16, PGAP3, HSPB9, ORMDL3, PLCD3, TMEM106A, OSBPL7, NT5C3B, FTSJ3, HSF5, OR4D2, MSI2, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, WFIKKN2, FLJ40194, B4GALNT2, EFCAB13, MRPL10, GJD3, KRT222, KRT40, DYNLL2, EFCAB3, CD300LG, KIF18B, RUNDC1, EME1, LINC02210, LINC00974, WIPF2, KRT25, TMEM99, ANKFN1, MARCHF10, NAGS, RETREG3, TMEM92, PHOSPHO1, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, STH, STXBP4, CACNA1G-AS1, TAC4, C17orf58, MILR1, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, PICART1, C17orf47, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, GDPD1, KLHL10, METTL2A, LOC339192, ASB16-AS1, C17orf67, MSL1, NACA2, KRT27, STAC2, SKA2, KRT26, PRAC2, LRRC37A3, C17orf98, LINC00671, CCDC103, RPRML, YPEL2, LINC01999, LINC02875, ARL5C, KRT39, TOB1-AS1, PRR29-AS1, CUEDC1, HOXB-AS3, MIR10A, MIR142, MIR152, MIR196A1, MIR21, MIR301A, TBC1D3C, GPR179, LINC02072, LRRC37A2, FBXO47, SNORA21, KANSL1-AS1, FAM215B, KRTAP4-11, NME1-NME2, SCARNA20, SNORA50C, SNORD104, MIR548D2, MIR633, MIR634, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, FLJ45513, LOC729683, TBC1D3, KRTAP2-3, MIR454, SNORA38B, MAPT-AS1, MAPT-IT1, LINC00910, KRTAP4-9, KRTAP4-7, MAP3K14-AS1, EPOP, TRC-GCA2-2, TRSUP-TTA1-1, TRC-GCA4-1, TRC-GCA2-3, TRN-GTT2-5, TRC-GCA2-4, TRC-GCA14-1, RAMP2-AS1, LOC100287808, LOC100288866, MIR1203, MIR2117, MIR4315-2, MIR2909, MIR3185, MIR4315-1, LINC00674, MIR3614, MIR548AA2, LINC00672, LRRC3C, KRTAP9-7, KRTAP16-1, LOC100505782, ARL17B, SP2-AS1, LINC02876, TSPOAP1-AS1, LOC100507002, KRTAP9-6, TBC1D3J, MIR1273E, FAM187A, KRTAP29-1, MIR4728, MIR4726, MIR4734, MIR4729, MIR4737, MIR4736, MIR3064, MIR5047, MIR4727, MIR548AT, MIR5010, MIR5089, CCDC200, HOXB-AS1, PTGES3L, PTGES3L-AARSD1, TBC1D3K, TBC1D3L, TBC1D3D, SNORD124, RUNDC3A-AS1, LINC01180, LOC101927166, LINC02075, LINC01969, LINC02071, LOC101927539, LOC101927557, CCDC182, LOC101927666, SEPTIN4-AS1, LINC01476, RNFT1-DT, LOC101927855, MARCHF10-DT, PRKCA-AS1, LOC101928021, RARA-AS1, LOC101929767, MIR6080, MIR378J, MIR6129, MIR6165, MIR6779, MIR6781, MIR6782, MIR6784, MIR6867, MIR6780A, MIR6510, MIR6783, MIR6884, MIR8059, MIR6866, LHX1-DT, TBC1D3E, LOC102724183, THCAT158, LOC102724532, LOC102724596, TBX2-AS1, TMEM92-AS1, LINC02210-CRHR1, LOC105371763, LINC02079, LINC02594, LOC105371789, LOC105371795, LINC01974, THRA1/BTR, LINC02086, LOC105371814, LOC105371824, LINC02073, LINC01982, LINC02089, LOC105371849, LOC105371855, SNHG25, LINC02563, LOC105980078, GH-LCR, SNORA90, MIR2117HG, LOC106677019, LOC106694315, LOC106694316, LINC01976, LOC108004529, LOC108004536, LOC108281137, LOC108783654, LOC109280161, LOC109286563, LOC109609706, SNORA21B, LOC110120862, LOC110120863, LOC110120913, LOC110120923, LOC110120932, LOC110121386, LOC110121446, LOC110121451, LOC110121475, LOC110121501, LOC110485084, LOC110485085, C17orf113, 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, MIR10226, MIR548BC, LOC113939962, LOC113939963, LOC114803472, LOC114827848, LOC116276460, LOC116276461, LOC116276462, LOC116276463, LOC116276464, LOC116276465, LOC116276466, LOC116276467, LOC116276468, LOC116276469, LOC116276470, LOC116276471, LOC116276472, LOC116276473, LOC116276474, LOC116276475, LOC116276476, LOC116276477, LOC116276478, ACACA, ACLY, AOC2, APOH, ARL4D, ATP5MC1, ATP6V0A1, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD79B, CDC6, CDC27, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CRHR1, CSF3, CSH1, CSH2, CSHL1, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DUSP3, ERBB2, ERN1, ETV4, EZH1, BPTF, GAST, FZD2, G6PC, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, GRB7, GRN, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, IFI35, IGFBP4, ITGA2B, ITGA3, ITGB3, JUP, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LHX1, LPO, NBR1, MAPT, ADAM11, MAP3K3, MEOX1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057282
3.
GRCh37:
Chr17:62015920
GRCh38:
Chr17:63938560
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324463
4.
GRCh37:
Chr17:62015962
GRCh38:
Chr17:63938602
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324464
5.
GRCh37:
Chr17:62015981
GRCh38:
Chr17:63938621
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324465
6.
GRCh37:
Chr17:62016059
GRCh38:
Chr17:63938699
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324466
7.
GRCh37:
Chr17:62016142
GRCh38:
Chr17:63938782
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis,
Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324467
8.
GRCh37:
Chr17:62016215
GRCh38:
Chr17:63938855
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324468
9.
GRCh37:
Chr17:62016241
GRCh38:
Chr17:63938881
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324469
10.
GRCh37:
Chr17:62016244
GRCh38:
Chr17:63938884
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324470
11.
GRCh37:
Chr17:62016256
GRCh38:
Chr17:63938896
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324471
12.
GRCh37:
Chr17:62016303
GRCh38:
Chr17:63938943
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324472
13.
GRCh37:
Chr17:62016394
GRCh38:
Chr17:63939034
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324473
14.
GRCh37:
Chr17:62016441-62016442
GRCh38:
Chr17:63939081-63939082
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324474
15.
GRCh37:
Chr17:62016453-62016454
GRCh38:
Chr17:63939093-63939094
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324475
16.
GRCh37:
Chr17:62016520
GRCh38:
Chr17:63939160
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324476
17.
GRCh37:
Chr17:62016559
GRCh38:
Chr17:63939199
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324477
18.
GRCh37:
Chr17:62016704
GRCh38:
Chr17:63939344
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324478
19.
GRCh37:
Chr17:62016728-62016737
GRCh38:
Chr17:63939368-63939377
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Paramyotonia congenita of von Eulenburg
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324479
20.
GRCh37:
Chr17:62016763
GRCh38:
Chr17:63939403
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324480
21.
GRCh37:
Chr17:62016774
GRCh38:
Chr17:63939414
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324481
22.
GRCh37:
Chr17:62016807
GRCh38:
Chr17:63939447
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis,
Hypokalemic periodic paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324482
23.
GRCh37:
Chr17:62016860
GRCh38:
Chr17:63939500
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis,
Hypokalemic periodic paralysis, Potassium aggravated myotonia
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324483
24.
GRCh37:
Chr17:62016878
GRCh38:
Chr17:63939518
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324484
25.
GRCh37:
Chr17:62016916
GRCh38:
Chr17:63939556
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324485
26.
GRCh37:
Chr17:62016926
GRCh38:
Chr17:63939566
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324486
27.
GRCh37:
Chr17:62016959
GRCh38:
Chr17:63939599
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324487
28.
GRCh37:
Chr17:62017043
GRCh38:
Chr17:63939683
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324488
29.
GRCh37:
Chr17:62017062
GRCh38:
Chr17:63939702
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324489
30.
GRCh37:
Chr17:62017074
GRCh38:
Chr17:63939714
GH-LCR, SCN4ACongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324490
31.
GRCh37:
Chr17:62017150
GRCh38:
Chr17:63939790
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324491
32.
GRCh37:
Chr17:62017258
GRCh38:
Chr17:63939898
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324492
33.
GRCh37:
Chr17:62017376
GRCh38:
Chr17:63940016
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324493
34.
GRCh37:
Chr17:62017421
GRCh38:
Chr17:63940061
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324494
35.
GRCh37:
Chr17:62017461
GRCh38:
Chr17:63940101
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324495
36.
GRCh37:
Chr17:62017568
GRCh38:
Chr17:63940208
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324496
37.
GRCh37:
Chr17:62017737
GRCh38:
Chr17:63940377
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324497
38.
GRCh37:
Chr17:62017799
GRCh38:
Chr17:63940439
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324498
39.
GRCh37:
Chr17:62017816
GRCh38:
Chr17:63940456
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324499
40.
GRCh37:
Chr17:62017827
GRCh38:
Chr17:63940467
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis,
Hypokalemic periodic paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324500
41.
GRCh37:
Chr17:62018002
GRCh38:
Chr17:63940642
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis,
Hypokalemic periodic paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324501
42.
GRCh37:
Chr17:62018009
GRCh38:
Chr17:63940649
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324502
43.
GRCh37:
Chr17:62018045
GRCh38:
Chr17:63940685
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Paramyotonia congenita of von Eulenburg,
Hyperkalemic Periodic Paralysis, Potassium aggravated myotonia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324503
44.
GRCh37:
Chr17:62018109
GRCh38:
Chr17:63940749
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000324504
45.
GRCh37:
Chr17:62018143
GRCh38:
Chr17:63940783
SCN4A, GH-LCRnot provided, not specifiedBenign
(Dec 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000255859
46.
GRCh37:
Chr17:62018150
GRCh38:
Chr17:63940790
SCN4A, GH-LCRV1831Dnot providedUncertain significance
(May 14, 2019)
criteria provided, single submitterVCV000805398
47.
GRCh37:
Chr17:62018160
GRCh38:
Chr17:63940800
SCN4A, GH-LCRR1828CHypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome, acetazolamide-responsive, Hyperkalemic Periodic Paralysis Type 1,
Hypokalemic periodic paralysis 1, Potassium aggravated myotonia, Paramyotonia congenita of von Eulenburg,
not provided, Hyperkalemic Periodic Paralysis Type 1
Uncertain significance
(Apr 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000577832
48.
GRCh37:
Chr17:62018164-62018165
GRCh38:
Chr17:63940804-63940805
SCN4A, GH-LCRHyperkalemic Periodic Paralysis Type 1Uncertain significance
(May 8, 2018)
criteria provided, single submitterVCV000567394
49.
GRCh37:
Chr17:62018164
GRCh38:
Chr17:63940804
SCN4A, GH-LCRHyperkalemic Periodic Paralysis, Congenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis,
not specified, Potassium aggravated myotonia, Potassium aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome, acetazolamide-responsive, Hyperkalemic Periodic Paralysis Type 1,
Paramyotonia congenita of von Eulenburg, Paramyotonia congenita of von Eulenburg ...see more
Benign
(Apr 14, 2017)
criteria provided, multiple submitters, no conflictsVCV000130240
50.
GRCh37:
Chr17:62018170
GRCh38:
Chr17:63940810
SCN4A, GH-LCRnot providedLikely benign
(Apr 2, 2018)
criteria provided, single submitterVCV000750029
51.
GRCh37:
Chr17:62018174
GRCh38:
Chr17:63940814
SCN4A, GH-LCRP1823Rnot provided, not specifiedLikely benign
(Dec 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000514878
52.
GRCh37:
Chr17:62018175
GRCh38:
Chr17:63940815
SCN4A, GH-LCRP1823THyperkalemic Periodic Paralysis Type 1Uncertain significance
(Oct 19, 2018)
criteria provided, single submitterVCV000645079
53.
GRCh37:
Chr17:62018185
GRCh38:
Chr17:63940825
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324505
54.
GRCh37:
Chr17:62018206
GRCh38:
Chr17:63940846
SCN4A, GH-LCRnot providedLikely benign
(Jun 23, 2018)
criteria provided, single submitterVCV000729927
55.
GRCh37:
Chr17:62018217-62018222
GRCh38:
Chr17:63940857-63940862
SCN4A, GH-LCRnot specified, not provided, Hyperkalemic Periodic Paralysis Type 1
Uncertain significance
(Jan 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000212133
56.
GRCh37:
Chr17:62018218
GRCh38:
Chr17:63940858
SCN4A, GH-LCRM1808Inot providedLikely benign
(Apr 26, 2018)
criteria provided, single submitterVCV000543829
57.
GRCh37:
Chr17:62018237
GRCh38:
Chr17:63940877
SCN4A, GH-LCRG1802EHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Jan 19, 2018)
criteria provided, single submitterVCV000569570
58.
GRCh37:
Chr17:62018238
GRCh38:
Chr17:63940878
SCN4A, GH-LCRG1802RHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Jun 15, 2018)
criteria provided, single submitterVCV000080615
59.
GRCh37:
Chr17:62018239
GRCh38:
Chr17:63940879
SCN4A, GH-LCRHyperkalemic Periodic Paralysis, Congenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis,
not specified, Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis Type 1,
Potassium aggravated myotonia, Potassium aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome, acetazolamide-responsive, Hyperkalemic Periodic Paralysis Type 1Paramyotonia congenita of von Eulenburg,
...see more
Benign
(Aug 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000130239
60.
GRCh37:
Chr17:62018241
GRCh38:
Chr17:63940881
SCN4A, GH-LCRA1801THyperkalemic Periodic Paralysis Type 1Uncertain significance
(Dec 11, 2018)
criteria provided, single submitterVCV000646984
61.
GRCh37:
Chr17:62018266
GRCh38:
Chr17:63940906
SCN4A, GH-LCRnot providedLikely benign
(Dec 6, 2018)
criteria provided, single submitterVCV000704488
62.
GRCh37:
Chr17:62018267
GRCh38:
Chr17:63940907
SCN4A, GH-LCRP1792LHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Nov 5, 2018)
criteria provided, single submitterVCV000641693
63.
GRCh37:
Chr17:62018275
GRCh38:
Chr17:63940915
SCN4A, GH-LCRnot providedConflicting interpretations of pathogenicity
(Jun 13, 2018)
criteria provided, conflicting interpretationsVCV000283139
64.
GRCh37:
Chr17:62018276
GRCh38:
Chr17:63940916
SCN4A, GH-LCRS1789Lnot provided, Hyperkalemic Periodic Paralysis Type 1Uncertain significance
(Jun 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000569390
65.
GRCh37:
Chr17:62018295
GRCh38:
Chr17:63940935
SCN4A, GH-LCRE1783KHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Aug 7, 2017)
criteria provided, single submitterVCV000477428
66.
GRCh37:
Chr17:62018296
GRCh38:
Chr17:63940936
SCN4A, GH-LCRnot providedLikely benign
(Aug 13, 2018)
criteria provided, single submitterVCV000765395
67.
GRCh37:
Chr17:62018299
GRCh38:
Chr17:63940939
SCN4A, GH-LCRnot specified, not providedLikely benign
(Aug 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000511725
68.
GRCh37:
Chr17:62018332
GRCh38:
Chr17:63940972
SCN4A, GH-LCRHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Aug 9, 2018)
criteria provided, single submitterVCV000574057
69.
GRCh37:
Chr17:62018348
GRCh38:
Chr17:63940988
SCN4A, GH-LCRA1765GCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, Hyperkalemic Periodic Paralysis,
Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324506
70.
GRCh37:
Chr17:62018349
GRCh38:
Chr17:63940989
SCN4A, GH-LCRA1765TCongenital Myasthenic Syndrome, Recessive, not specified, Paramyotonia congenita of von Eulenburg,
Potassium aggravated myotonia, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
not provided
Benign/Likely benign
(Oct 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000324507
71.
GRCh37:
Chr17:62018350
GRCh38:
Chr17:63940990
SCN4A, GH-LCRnot providedBenign
(Feb 13, 2019)
criteria provided, single submitterVCV000477427
72.
GRCh37:
Chr17:62018351
GRCh38:
Chr17:63940991
SCN4A, GH-LCRD1764GHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Feb 15, 2018)
criteria provided, single submitterVCV000582417
73.
GRCh37:
Chr17:62018358
GRCh38:
Chr17:63940998
SCN4A, GH-LCRG1762RCongenital Myasthenic Syndrome, Recessive, Hyperkalemic Periodic Paralysis, Hypokalemic periodic paralysis,
Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis Type 1, Potassium aggravated myotonia
Uncertain significance
(Nov 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000324508
74.
GRCh37:
Chr17:62018365
GRCh38:
Chr17:63941005
SCN4A, GH-LCRnot specifiedLikely benign
(Jul 6, 2016)
criteria provided, single submitterVCV000386963
75.
GRCh37:
Chr17:62018368
GRCh38:
Chr17:63941008
SCN4A, GH-LCRCongenital Myasthenic Syndrome, Recessive, Hypokalemic periodic paralysis, not specified,
not provided, Paramyotonia congenita of von Eulenburg, Potassium aggravated myotonia,
Hyperkalemic Periodic Paralysis
Benign/Likely benign
(Jan 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000324509
76.
GRCh37:
Chr17:62018379
GRCh38:
Chr17:63941019
SCN4A, GH-LCRR1755CHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Aug 6, 2018)
criteria provided, single submitterVCV000582323
77.
GRCh37:
Chr17:62018419
GRCh38:
Chr17:63941059
SCN4A, GH-LCRnot providedLikely benign
(May 23, 2018)
criteria provided, single submitterVCV000748763
78.
GRCh37:
Chr17:62018422
GRCh38:
Chr17:63941062
SCN4A, GH-LCRnot providedLikely benign
(May 22, 2018)
criteria provided, single submitterVCV000742506
79.
GRCh37:
Chr17:62018424
GRCh38:
Chr17:63941064
SCN4A, GH-LCRnot providedLikely benign
(Jan 19, 2018)
criteria provided, single submitterVCV000543831
80.
GRCh37:
Chr17:62018437
GRCh38:
Chr17:63941077
SCN4A, GH-LCRQ1735HCongenital Myasthenic Syndrome, Recessive, Paramyotonia congenita of von Eulenburg, Hyperkalemic Periodic Paralysis,
Hypokalemic periodic paralysis, Potassium aggravated myotonia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000324510
81.
GRCh37:
Chr17:62018451
GRCh38:
Chr17:63941091
SCN4A, GH-LCRA1731Tnot providedBenign
(Feb 4, 2019)
criteria provided, single submitterVCV000705678
82.
GRCh37:
Chr17:62018452
GRCh38:
Chr17:63941092
SCN4A, GH-LCRnot specified, not providedBenign/Likely benign
(Jan 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000385479
83.
GRCh37:
Chr17:62018454
GRCh38:
Chr17:63941094
SCN4A, GH-LCRC1730Rnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000592007
84.
GRCh37:
Chr17:62018461
GRCh38:
Chr17:63941101
SCN4A, GH-LCRnot provided, not specifiedLikely benign
(Jan 3, 2019)
criteria provided, multiple submitters, no conflictsVCV000477426
85.
GRCh37:
Chr17:62018480
GRCh38:
Chr17:63941120
SCN4A, GH-LCRT1721Inot providedUncertain significance
(Jul 15, 2019)
criteria provided, single submitterVCV000805397
86.
GRCh37:
Chr17:62018494
GRCh38:
Chr17:63941134
SCN4A, GH-LCRHyperkalemic Periodic Paralysis Type 1Likely benign
(Nov 1, 2017)
criteria provided, single submitterVCV000543824
87.
GRCh37:
Chr17:62018515
GRCh38:
Chr17:63941155
SCN4A, GH-LCRN1709KHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000645260
88.
GRCh37:
Chr17:62018516
GRCh38:
Chr17:63941156
SCN4A, GH-LCRN1709Snot provided, Hyperkalemic Periodic Paralysis Type 1Uncertain significance
(May 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000448286
89.
GRCh37:
Chr17:62018518
GRCh38:
Chr17:63941158
SCN4A, GH-LCRnot specifiedLikely benign
(May 11, 2017)
criteria provided, single submitterVCV000509406
90.
GRCh37:
Chr17:62018529
GRCh38:
Chr17:63941169
SCN4A, GH-LCRF1705Inot provided, Hyperkalemic Periodic Paralysis Type 1Conflicting interpretations of pathogenicity
(Jul 3, 2018)
criteria provided, conflicting interpretationsVCV000420020
91.
GRCh37:
Chr17:62018530-62018532
GRCh38:
Chr17:63941172-63941174
SCN4A, GH-LCRK1704delHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Dec 12, 2018)
criteria provided, single submitterVCV000651872
92.
GRCh37:
Chr17:62018533-62018535
GRCh38:
Chr17:63941173-63941175
SCN4A, GH-LCRE1703delnot provided, Hyperkalemic Periodic Paralysis Type 1Uncertain significance
(Jan 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000567853
93.
GRCh37:
Chr17:62018537
GRCh38:
Chr17:63941177
SCN4A, GH-LCRE1702VHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Jul 4, 2018)
criteria provided, single submitterVCV000654237
94.
GRCh37:
Chr17:62018537
GRCh38:
Chr17:63941177
SCN4A, GH-LCRE1702Gnot specifiedUncertain significance
(Dec 8, 2016)
criteria provided, single submitterVCV000448285
95.
GRCh37:
Chr17:62018538
GRCh38:
Chr17:63941178
SCN4A, GH-LCRE1702KHyperkalemic Periodic Paralysis Type 1, not providedUncertain significance
(Nov 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000543801
96.
GRCh37:
Chr17:62018557
GRCh38:
Chr17:63941197
SCN4A, GH-LCRnot providedLikely benign
(Aug 3, 2018)
criteria provided, single submitterVCV000722913
97.
GRCh37:
Chr17:62018581
GRCh38:
Chr17:63941221
SCN4A, GH-LCRnot providedLikely benign
(Aug 20, 2018)
criteria provided, single submitterVCV000765639
98.
GRCh37:
Chr17:62018591
GRCh38:
Chr17:63941231
SCN4A, GH-LCRT1684Inot providedUncertain significance
(May 6, 2019)
criteria provided, single submitterVCV000805396
99.
GRCh37:
Chr17:62018605
GRCh38:
Chr17:63941245
SCN4A, GH-LCRnot specified, not providedLikely benign
(Feb 21, 2019)
criteria provided, multiple submitters, no conflictsVCV000436663
100.
GRCh37:
Chr17:62018609
GRCh38:
Chr17:63941249
SCN4A, GH-LCRD1678GHyperkalemic Periodic Paralysis Type 1Uncertain significance
(Aug 30, 2018)
criteria provided, single submitterVCV000569920
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