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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
AAGAB, ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKDD1A, ANKRD34C, ANKRD34C-AS1, ANP32A, ANP32A-IT1, ANPEP, ANXA2, AP3B2, AP3S2, APH1B, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, C15orf61, C2CD4A, C2CD4B, CA12, CALML4, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIAO2A, CIB1, CIB2, CILP, CLK3, CLN6, CLPX, COMMD4, CORO2B, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSNK1G1, CSPG4, CT62, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DAPK2, DENND4A, DET1, DIS3L, DIS3L-AS1, DNAJA4, DNAJA4-DT, DPP8, DRAIC, EDC3, EFL1, ETFA, EWSAT1, FAH, FAM174B, FAM219B, FANCI, FBXL22, FBXO22, FBXO22-AS1, FEM1B, FES, FOXB1, FSD2, FURIN, GCAWKR, GDPGP1, GLCE, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HACD3, HAPLN3, HCN4, HDDC3, HDGFL3, HERC1, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, ICE2, IDH2, IDH2-DT, IDH3A, IGDCC3, IGDCC4, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, INTS14, IQCH, IQCH-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, ITGA11, KBTBD13, KIF23, KIF23-AS1, KIF7, KLHL25, LACTB, LARP6, LCTL, LETR1, LINC00052, LINC00593, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01169, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02204, LINC02205, LINC02206, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02349, LINC02351, LINC02568, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100128979, LOC100129540, LOC100507472, LOC101927310, LOC101928988, LOC101929076, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102723493, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC107984784, LOC107988046, LOC107992387, LOC108251791, LOC108281191, LOC108964933, LOC110120860, LOC110120861, LOC110120917, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121491, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111365216, LOC111413015, LOC111413032, LOC111413043, LOC111562369, LOC111718493, LOC111822949, LOC112272574, LOC112272602, LOC112272603, LOC112272604, LOC112272605, LOC112272606, LOC112272607, LOC112272608, LOC112272609, LOC112272610, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939945, LOC113939946, LOC113939947, LOC114827858, LOC116268467, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRC49, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MAP2K1, MAP2K5, MCTP2, MEF2A, MEGF11, MESD, MESP1, MESP2, MEX3B, MFGE8, MGC15885, MINAR1, MIR11181, MIR1179, MIR12135, MIR1272, MIR1276, MIR1469, MIR184, MIR190A, MIR3174, MIR3175, MIR3529, MIR3713, MIR422A, MIR4311, MIR4312, MIR4313, MIR4511, MIR4512, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR6085, MIR629, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR8067, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTFMT, MTHFS, MYO9A, NEIL1, NEO1, NGRN, NMB, NOX5, NPTN, NPTN-IT1, NR2E3, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, OAZ2, ODF3L1, OR4F15, OR4F6, PAQR5, PAQR5-DT, PARP16, PARP6, PCAT29, PCLAF, PCSK6, PCSK6-AS1, PDCD7, PDE8A, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PIRC76, PKM, PLEKHO2, PLIN1, PML, POLG, PPCDC, PPIB, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAB11A, RAB8B, RAMAC, RASGRF1, RASL12, RBPMS2, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RNU5A-1, RNU5B-1, RNU6-1, RORA, RORA-AS1, RORA-AS2, RPL4, RPLP1, RPP25, RPS17, RPS27L, SALRNA2, SALRNA3, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA14, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SENP8, SH2D7, SH3GL3, SIN3A, SKOR1, SLC24A1, SLC28A1, SLC51B, SLCO3A1, SMAD3, SMAD6, SNAPC5, SNHG21, SNORA24B, SNORD13E, SNORD16, SNORD18A, SNORD18B, SNORD18C, SNRPA1, SNUPN, SNX1, SNX22, SNX33, SPATA41, SPATA8, SPATA8-AS1, SPESP1, SPG21, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, THAP10, THSD4, THSD4-AS1, THSD4-AS2, TICRR, TIPIN, TLE3, TLN2, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TPM1, TPM1-AS, TRC-GCA5-1, TRIP4, TRK-CTT1-2, TRQ-CTG1-4, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UACA, UBAP1L, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, USP3, USP3-AS1, VPS13C, VPS13C-DT, VPS33B, VPS33B-DT, WDR61, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF609, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2, ZWILCH
See casesPathogenic
(Oct 24, 2012)
no assertion criteria providedVCV000154848
2.
GRCh37:
Chr15:69122913-74115678
GRCh38:
Chr15:68830574-73823337
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057140
3.
GRCh37:
Chr15:70317639-78998335
GRCh38:
Chr15:70025300-78705993
See casesPathogenic
(Jun 22, 2015)
no assertion criteria providedVCV000153193
4.
GRCh37:
Chr15:72447290-102461201
GRCh38:
Chr15:72154949-101920998
ABHD17C, ABHD2, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, ADPGK-AS1, AEN, AGBL1, AGBL1-AS1, AKAP13, ALDH1A3, ALDH1A3-AS1, ALPK3, ANKRD34C, ANKRD34C-AS1, ANPEP, AP3B2, AP3S2, ARID3B, ARIH1, ARNT2, ARPIN, ARPIN-AP3S2, ARRDC4, ASB7, BBS4, BCL2A1, BLM, BNC1, BTBD1, C15orf32, C15orf39, C15orf40, CARMAL, CCDC33, CD276, CELF6, CEMIP, CERS3, CERS3-AS1, CFAP161, CHASERR, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CIB1, CIB2, CLK3, COMMD4, COX5A, CPEB1, CPEB1-AS1, CPLX3, CRABP1, CRAT37, CRTC3, CRTC3-AS1, CSK, CSPG4, CTSH, CTXND1, CYP11A1, CYP1A1, CYP1A2, DET1, DNAJA4, DNAJA4-DT, EDC3, EFL1, ETFA, FAH, FAM174B, FAM219B, FANCI, FBXO22, FBXO22-AS1, FES, FSD2, FURIN, GCAWKR, GDPGP1, GOLGA6A, GOLGA6B, GOLGA6C, GOLGA6D, GOLGA6L10, GOLGA6L4, GOLGA6L9, GRAMD2A, HAPLN3, HCN4, HDDC3, HDGFL3, HEXA, HEXA-AS1, HIGD2B, HMG20A, HOMER2, HYKK, IDH2, IDH2-DT, IDH3A, IGF1R, IL16, IMP3, INSYN1, INSYN1-AS1, IQGAP1, IRAIN, IREB2, ISG20, ISL2, ISLR, ISLR2, KIF7, KLHL25, LETR1, LINC00052, LINC00597, LINC00923, LINC00924, LINC00927, LINC00928, LINC00930, LINC00933, LINC01579, LINC01580, LINC01581, LINC01582, LINC01583, LINC01584, LINC01585, LINC01586, LINC02207, LINC02244, LINC02251, LINC02253, LINC02254, LINC02255, LINC02259, LINC02348, LINC02351, LINC02883, LINGO1, LINGO1-AS1, LINGO1-AS2, LINS1, LMAN1L, LOC100129540, LOC100507472, LOC101927310, LOC101929439, LOC101929457, LOC101929586, LOC102723335, LOC102724034, LOC102724452, LOC103171574, LOC104613533, LOC105369212, LOC105370954, LOC105370980, LOC105371031, LOC108251791, LOC108281191, LOC108964933, LOC110121345, LOC110121383, LOC110121430, LOC110121464, LOC110121492, LOC110467515, LOC110467516, LOC110467517, LOC111413032, LOC111718493, LOC111822949, LOC112272574, LOC112272613, LOC112272614, LOC112272615, LOC112272616, LOC112272617, LOC112272618, LOC112272619, LOC112272620, LOC112272621, LOC112272622, LOC112272623, LOC112296173, LOC112296174, LOC112296175, LOC112296176, LOC112296177, LOC112296178, LOC113939942, LOC113939947, LOC114827858, LOC116268468, LOC116268469, LOC116268470, LOC116268471, LOC116268472, LOC116268473, LOC116268474, LOC116268475, LOC116268476, LOC116268477, LOC116268478, LOC116268479, LOC117204000, LOC117204001, LOC120285840, LOC283731, LOC91450, LOXL1, LOXL1-AS1, LRRC28, LRRK1, LUNAR1, LYSMD4, MAN2A2, MAN2C1, MCTP2, MEF2A, MESD, MESP1, MESP2, MEX3B, MFGE8, MINAR1, MIR11181, MIR1179, MIR12135, MIR1276, MIR1469, MIR184, MIR3174, MIR3175, MIR3529, MIR3713, MIR4313, MIR4513, MIR4514, MIR4515, MIR4714, MIR5009, MIR5094, MIR548AP, MIR549A, MIR5572, MIR630, MIR631, MIR6766, MIR6881, MIR6882, MIR7-2, MIR7706, MIR9-3, MIR9-3HG, MORF4L1, MPI, MRPL46, MRPS11, MTHFS, NEIL1, NEO1, NGRN, NMB, NPTN, NPTN-IT1, NR2F2, NR2F2-AS1, NRG4, NTRK3, NTRK3-AS1, ODF3L1, OR4F15, OR4F6, PARP6, PCSK6, PCSK6-AS1, PDE8A, PEAK1, PEX11A, PGPEP1L, PIRC76, PKM, PLIN1, PML, POLG, PPCDC, PRC1, PRC1-AS1, PSMA4, PSTPIP1, PTPN9, RAMAC, RASGRF1, RCCD1, RCCD1-AS1, RCN2, REC114, RGMA, RHCG, RLBP1, RPP25, RPS17, SAXO2, SCAMP2, SCAMP5, SCAPER, SCARNA15, SEC11A, SELENOS, SEMA4B, SEMA7A, SH2D7, SH3GL3, SIN3A, SLC28A1, SLCO3A1, SNHG21, SNRPA1, SNUPN, SNX33, SPATA41, SPATA8, SPATA8-AS1, ST20, ST20-AS1, ST20-MTHFS, ST8SIA2, STARD5, STOML1, STRA6, SV2B, SYNM, SYNM-AS1, TARS3, TBC1D21, TBC1D2B, TICRR, TLNRD1, TM2D3, TM6SF1, TMC3, TMC3-AS1, TMED3, TMEM202, TMEM202-AS1, TMEM266, TRC-GCA5-1, TRK-CTT1-2, TRR-TCG1-1, TSPAN3, TTC23, TTLL13, UBE2Q2, UBL7, UBL7-DT, ULK3, UNC45A, VPS33B, VPS33B-DT, WDR61, WDR73, WDR93, WHAMM, ZFAND6, ZNF592, ZNF710, ZNF710-AS1, ZNF774, ZSCAN2
See casesPathogenic
(Sep 10, 2012)
no assertion criteria providedVCV000154952
5.
GRCh37:
Chr15:72921369-75535330
GRCh38:
Chr15:72629028-75242989
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058078
6.
GRCh38:
Chr15:72640623-75277317
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitterVCV000545182
7.
GRCh37:
Chr15:72963970-75535330
GRCh38:
Chr15:72671629-75242989
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000154681
8.
GRCh37:
Chr15:72963970-75492144
GRCh38:
Chr15:72671629-75199803
See casesLikely pathogenic
(Apr 8, 2011)
no assertion criteria providedVCV000148272
9.
GRCh37:
Chr15:72963970-75954617
GRCh38:
Chr15:72671629-75662276
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057428
10.
GRCh37:
Chr15:72977572-76019966
GRCh38:
Chr15:72685231-75727625
See casesPathogenic
(Oct 1, 2010)
no assertion criteria providedVCV000153074
11.
GRCh37:
Chr15:73612237
GRCh38:
Chr15:73319896
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885564
12.
GRCh37:
Chr15:73612241
GRCh38:
Chr15:73319900
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000885565
13.
GRCh37:
Chr15:73612377
GRCh38:
Chr15:73320036
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000885566
14.
GRCh37:
Chr15:73612429
GRCh38:
Chr15:73320088
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000885567
15.
GRCh37:
Chr15:73612468
GRCh38:
Chr15:73320127
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000885568
16.
GRCh37:
Chr15:73612581
GRCh38:
Chr15:73320240
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885569
17.
GRCh37:
Chr15:73612812
GRCh38:
Chr15:73320471
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886589
18.
GRCh37:
Chr15:73612833
GRCh38:
Chr15:73320492
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000886590
19.
GRCh37:
Chr15:73612988
GRCh38:
Chr15:73320647
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886591
20.
GRCh37:
Chr15:73613163
GRCh38:
Chr15:73320822
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000886592
21.
GRCh37:
Chr15:73613224
GRCh38:
Chr15:73320883
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886593
22.
GRCh37:
Chr15:73613332
GRCh38:
Chr15:73320991
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000886594
23.
GRCh37:
Chr15:73613340
GRCh38:
Chr15:73320999
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000886595
24.
GRCh37:
Chr15:73613617
GRCh38:
Chr15:73321276
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 15, 2018)
criteria provided, single submitterVCV000886596
25.
GRCh37:
Chr15:73613625
GRCh38:
Chr15:73321284
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000887841
26.
GRCh37:
Chr15:73613650
GRCh38:
Chr15:73321309
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887842
27.
GRCh37:
Chr15:73613682
GRCh38:
Chr15:73321341
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000887843
28.
GRCh37:
Chr15:73613737
GRCh38:
Chr15:73321396
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887844
29.
GRCh37:
Chr15:73613842
GRCh38:
Chr15:73321501
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887845
30.
GRCh37:
Chr15:73613921
GRCh38:
Chr15:73321580
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000887846
31.
GRCh37:
Chr15:73613975
GRCh38:
Chr15:73321634
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887847
32.
GRCh37:
Chr15:73613978
GRCh38:
Chr15:73321637
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000887848
33.
GRCh37:
Chr15:73614055
GRCh38:
Chr15:73321714
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884687
34.
GRCh37:
Chr15:73614114
GRCh38:
Chr15:73321773
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000884688
35.
GRCh37:
Chr15:73614188
GRCh38:
Chr15:73321847
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000884689
36.
GRCh37:
Chr15:73614230
GRCh38:
Chr15:73321889
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884690
37.
GRCh37:
Chr15:73614408
GRCh38:
Chr15:73322067
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000884691
38.
GRCh37:
Chr15:73614654
GRCh38:
Chr15:73322313
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884692
39.
GRCh37:
Chr15:73614695
GRCh38:
Chr15:73322354
HCN4Sick sinus syndrome 2, autosomal dominantBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000884693
40.
GRCh37:
Chr15:73614703-73614704
GRCh38:
Chr15:73322362-73322363
HCN4not providedBenign
(Jun 15, 2018)
criteria provided, single submitterVCV001288341
41.
GRCh37:
Chr15:73614718
GRCh38:
Chr15:73322377
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884694
42.
GRCh37:
Chr15:73614778
GRCh38:
Chr15:73322437
HCN4Sick sinus syndrome 2, autosomal dominantUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885635
43.
GRCh37:
Chr15:73614814
GRCh38:
Chr15:73322473
HCN4not providedUncertain significance
(Aug 30, 2016)
criteria provided, single submitterVCV000289951
44.
GRCh37:
Chr15:73614820
GRCh38:
Chr15:73322479
HCN4not providedLikely benign
(Sep 25, 2019)
criteria provided, single submitterVCV001210474
45.
GRCh37:
Chr15:73614825
GRCh38:
Chr15:73322484
HCN4Brugada syndrome 8Uncertain significance
(Feb 26, 2019)
criteria provided, single submitterVCV000837958
46.
GRCh37:
Chr15:73614829
GRCh38:
Chr15:73322488
HCN4N1202SBrugada syndrome 8Uncertain significance
(Aug 26, 2020)
criteria provided, single submitterVCV000538092
47.
GRCh37:
Chr15:73614834
GRCh38:
Chr15:73322493
HCN4Brugada syndrome 8Likely benign
(Jan 23, 2020)
criteria provided, single submitterVCV000799842
48.
GRCh37:
Chr15:73614834-73614835
GRCh38:
Chr15:73322493-73322494
HCN4P1200LBrugada syndrome 8Uncertain significance
(Apr 2, 2018)
criteria provided, single submitterVCV000575303
49.
GRCh37:
Chr15:73614834
GRCh38:
Chr15:73322493
HCN4Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8, not specified,
not provided, Cardiovascular phenotype
Benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000095285
50.
GRCh37:
Chr15:73614837
GRCh38:
Chr15:73322496
HCN4Brugada syndrome 8Likely benign
(Nov 2, 2019)
criteria provided, single submitterVCV001141786
51.
GRCh37:
Chr15:73614838
GRCh38:
Chr15:73322497
HCN4L1199QBrugada syndrome 8, not providedUncertain significance
(Aug 21, 2017)
criteria provided, multiple submitters, no conflictsVCV000502460
52.
GRCh37:
Chr15:73614847
GRCh38:
Chr15:73322506
HCN4R1196HBrugada syndrome 8, Cardiovascular phenotype, not specified,
not provided
Benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000198820
53.
GRCh37:
Chr15:73614848
GRCh38:
Chr15:73322507
HCN4R1196CBrugada syndrome 8Uncertain significance
(Aug 23, 2019)
criteria provided, single submitterVCV000538090
54.
GRCh37:
Chr15:73614852
GRCh38:
Chr15:73322511
HCN4Brugada syndrome 8, not providedUncertain significance
(Oct 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000489266
55.
GRCh37:
Chr15:73614855
GRCh38:
Chr15:73322514
HCN4Brugada syndrome 8Likely benign
(Feb 19, 2020)
criteria provided, single submitterVCV001110861
56.
GRCh37:
Chr15:73614857
GRCh38:
Chr15:73322516
HCN4E1193QBrugada syndrome 8, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Mar 30, 2021)
criteria provided, conflicting interpretationsVCV000191449
57.
GRCh37:
Chr15:73614859
GRCh38:
Chr15:73322518
HCN4P1192LBrugada syndrome 8Uncertain significance
(Oct 24, 2018)
criteria provided, single submitterVCV000579946
58.
GRCh37:
Chr15:73614866
GRCh38:
Chr15:73322525
HCN4A1190TBrugada syndrome 8Uncertain significance
(Sep 12, 2017)
criteria provided, single submitterVCV000404135
59.
GRCh37:
Chr15:73614893
GRCh38:
Chr15:73322552
HCN4T1181PBrugada syndrome 8Uncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV000941815
60.
GRCh37:
Chr15:73614897-73614898
GRCh38:
Chr15:73322556-73322557
HCN4L1180fsnot providedUncertain significance
(Jul 16, 2019)
criteria provided, single submitterVCV001307186
61.
GRCh37:
Chr15:73614901
GRCh38:
Chr15:73322560
HCN4P1178LBrugada syndrome 8Uncertain significance
(Sep 30, 2020)
criteria provided, single submitterVCV001040816
62.
GRCh37:
Chr15:73614903
GRCh38:
Chr15:73322562
HCN4Brugada syndrome 8Likely benign
(Jan 13, 2019)
criteria provided, single submitterVCV000701673
63.
GRCh37:
Chr15:73614903
GRCh38:
Chr15:73322562
HCN4Brugada syndrome 8, not specified, not provided
Likely benign
(Jun 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000382170
64.
GRCh37:
Chr15:73614908
GRCh38:
Chr15:73322567
HCN4G1176RBrugada syndrome 8Uncertain significance
(Sep 27, 2017)
criteria provided, single submitterVCV000404126
65.
GRCh37:
Chr15:73614922
GRCh38:
Chr15:73322581
HCN4R1171Inot providedUncertain significance
(Mar 26, 2014)
criteria provided, single submitterVCV000190790
66.
GRCh37:
Chr15:73614929-73614932
GRCh38:
Chr15:73322588-73322591
HCN4F1168fsSinus node disease, Brugada syndrome 8, not provided
Uncertain significance
(Oct 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000191377
67.
GRCh37:
Chr15:73614931
GRCh38:
Chr15:73322590
HCN4F1168SBrugada syndrome 8Uncertain significance
(Dec 22, 2019)
criteria provided, single submitterVCV000835426
68.
GRCh37:
Chr15:73614933
GRCh38:
Chr15:73322592
HCN4L1167FBrugada syndrome 8Uncertain significance
(Jan 24, 2020)
criteria provided, single submitterVCV001063007
69.
GRCh37:
Chr15:73614934-73614937
GRCh38:
Chr15:73322593-73322596
HCN4S1166fsnot specified, not provided, Brugada syndrome 8
Uncertain significance
(Sep 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000190785
70.
GRCh37:
Chr15:73614944
GRCh38:
Chr15:73322603
HCN4P1164Snot providedUncertain significanceno assertion criteria providedVCV001284374
71.
GRCh37:
Chr15:73614944
GRCh38:
Chr15:73322603
HCN4P1164ABrugada syndrome 8Uncertain significance
(Oct 4, 2020)
criteria provided, single submitterVCV000849884
72.
GRCh37:
Chr15:73614946
GRCh38:
Chr15:73322605
HCN4P1163Hnot provided, Brugada syndrome 8Uncertain significance
(Oct 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000404127
73.
GRCh37:
Chr15:73614947
GRCh38:
Chr15:73322606
HCN4P1163TBrugada syndrome 8, Cardiovascular phenotypeUncertain significance
(Jul 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000519345
74.
GRCh37:
Chr15:73614966
GRCh38:
Chr15:73322625
HCN4not specified, Brugada syndrome 8Likely benign
(Mar 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000383673
75.
GRCh37:
Chr15:73614973
GRCh38:
Chr15:73322632
HCN4R1154QBrugada syndrome 8, not providedUncertain significance
(Jan 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000191450
76.
GRCh37:
Chr15:73614974
GRCh38:
Chr15:73322633
HCN4R1154Wnot providedUncertain significance
(May 6, 2021)
criteria provided, single submitterVCV001201442
77.
GRCh37:
Chr15:73614982
GRCh38:
Chr15:73322641
HCN4T1151IBrugada syndrome 8Uncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000849472
78.
GRCh37:
Chr15:73614986
GRCh38:
Chr15:73322645
HCN4V1150Inot providedUncertain significance
(Feb 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000234777
79.
GRCh37:
Chr15:73614987
GRCh38:
Chr15:73322646
HCN4Brugada syndrome 8Likely benign
(Sep 24, 2020)
criteria provided, single submitterVCV001136931
80.
GRCh37:
Chr15:73614987-73614988
GRCh38:
Chr15:73322646-73322647
HCN4H1149LBrugada syndrome 8Uncertain significance
(May 19, 2019)
criteria provided, single submitterVCV000945800
81.
GRCh37:
Chr15:73614996
GRCh38:
Chr15:73322655
HCN4Brugada syndrome 8Uncertain significance
(Aug 6, 2020)
criteria provided, single submitterVCV001007282
82.
GRCh37:
Chr15:73615001
GRCh38:
Chr15:73322660
HCN4I1145Vnot providedUncertain significance
(May 6, 2019)
criteria provided, single submitterVCV001305548
83.
GRCh37:
Chr15:73615006
GRCh38:
Chr15:73322665
HCN4G1143VBrugada syndrome 8Uncertain significance
(Jun 20, 2017)
criteria provided, single submitterVCV000470670
84.
GRCh37:
Chr15:73615017
GRCh38:
Chr15:73322676
HCN4Brugada syndrome 8Likely benign
(Aug 26, 2020)
criteria provided, single submitterVCV001158710
85.
GRCh37:
Chr15:73615020
GRCh38:
Chr15:73322679
HCN4R1140fsCardiovascular phenotype, Brugada syndrome 8Uncertain significance
(Dec 19, 2019)
criteria provided, multiple submitters, no conflictsVCV000518849
86.
GRCh37:
Chr15:73615022
GRCh38:
Chr15:73322681
HCN4P1138ACardiovascular phenotype, Brugada syndrome 8Uncertain significance
(Aug 20, 2016)
criteria provided, multiple submitters, no conflictsVCV000404130
87.
GRCh37:
Chr15:73615023
GRCh38:
Chr15:73322682
HCN4Brugada syndrome 8, not providedLikely benign
(Aug 13, 2018)
criteria provided, single submitterVCV000765308
88.
GRCh37:
Chr15:73615025
GRCh38:
Chr15:73322684
HCN4P1137Snot provided, Brugada syndrome 8Uncertain significance
(Aug 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000580597
89.
GRCh37:
Chr15:73615027
GRCh38:
Chr15:73322686
HCN4G1136VBrugada syndrome 8Uncertain significance
(Jun 27, 2017)
criteria provided, single submitterVCV000470669
90.
GRCh37:
Chr15:73615028
GRCh38:
Chr15:73322687
HCN4G1136SBrugada syndrome 8Uncertain significance
(Nov 12, 2019)
criteria provided, single submitterVCV000538091
91.
GRCh37:
Chr15:73615029
GRCh38:
Chr15:73322688
HCN4Brugada syndrome 8Likely benign
(Sep 11, 2020)
criteria provided, single submitterVCV000470668
92.
GRCh37:
Chr15:73615033
GRCh38:
Chr15:73322692
HCN4G1134DBrugada syndrome 8Uncertain significance
(Jul 9, 2020)
criteria provided, single submitterVCV001058101
93.
GRCh37:
Chr15:73615037
GRCh38:
Chr15:73322696
HCN4G1133RBrugada syndrome 8Uncertain significance
(Feb 6, 2020)
criteria provided, single submitterVCV000945339
94.
GRCh37:
Chr15:73615037
GRCh38:
Chr15:73322696
HCN4G1133RBrugada syndrome 8Uncertain significance
(Oct 28, 2020)
criteria provided, single submitterVCV000859517
95.
GRCh37:
Chr15:73615038
GRCh38:
Chr15:73322697
HCN4not provided, Brugada syndrome 8, Cardiovascular phenotype
Likely benign
(Oct 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000519231
96.
GRCh37:
Chr15:73615046
GRCh38:
Chr15:73322705
HCN4G1130Rnot specified, Brugada syndrome 8Uncertain significance
(Apr 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000447481
97.
GRCh37:
Chr15:73615048
GRCh38:
Chr15:73322707
HCN4S1129NBrugada syndrome 8Uncertain significance
(Oct 29, 2020)
criteria provided, single submitterVCV001018575
98.
GRCh37:
Chr15:73615051
GRCh38:
Chr15:73322710
HCN4G1128Vnot providedUncertain significance
(Feb 17, 2014)
criteria provided, single submitterVCV000167168
99.
GRCh37:
Chr15:73615052
GRCh38:
Chr15:73322711
HCN4G1128SCardiovascular phenotype, not provided, Brugada syndrome 8
Uncertain significance
(Nov 21, 2019)
criteria provided, multiple submitters, no conflictsVCV000518776
100.
GRCh37:
Chr15:73615055
GRCh38:
Chr15:73322714
HCN4G1127RBrugada syndrome 8, not providedUncertain significance
(Dec 10, 2019)
criteria provided, multiple submitters, no conflictsVCV000470667
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