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Items: 1 to 100 of 305

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:1274615-19073133
ABAT, ABCA3, ADCY9, ABCC6, ATP6V0C, TNFRSF17, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, GFER, GRIN2A, GSPT1, HAGH, HMOX2, IGFALS, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, RPS15A, SRL, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, SNN, PLA2G10, SOCS1, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, NPIPA1, SLC9A3R2, LITAF, MARF1, SEC14L5, IFT140, TELO2, NUBP2, ZNF263, TRAP1, TBL3, RNPS1, PRSS21, PDXDC1, SMG1, CLUAP1, MAPK8IP3, ARL6IP1, CLEC16A, MGRN1, NOMO1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, RSL1D1, DEXI, C16orf72, ZC3H7A, UBN1, CDIP1, AMDHD2, PAM16, TXNDC11, NAGPA, BFAR, TNFRSF12A, MSRB1, KCTD5, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, CPPED1, ALG1, NMRAL1, TBC1D24, MKL2, CASKIN1, CRAMP1, PRM3, PRSS22, XYLT1, MLST8, MMP25, TPSB2, HS3ST6, UNKL, MRPS34, METTL22, THOC6, KREMEN2, CORO7, ROGDI, TMEM204, NAA60, TMC7, ATF7IP2, C16orf59, FAHD1, PRSS27, TRAF7, FLYWCH1, NUDT16L1, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, C16orf45, ZNF598, JPT2, SPSB3, TIGD7, SNX29, FLYWCH2, VASN, TSR3, RMI2, NTAN1, FOPNL, NOXO1, ZG16B, PAQR4, ANKS3, UBALD1, SEPT12, TEKT5, RNF151, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, EME2, , NLRC3, MEIOB, MPV17L, PRSS33, NOMO2, NPW, BRICD5, PGP, C16orf91, TMEM114, C16orf96, PRSS41, PTX4, BCAR4, NOMO3, SMIM22, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, SHISA9, SNHG9, CEMP1, TVP23A, MIR365A, MIR1225, NPIPA5, MTRNR2L4, CORO7-PAM16
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
2.
GRCh37:
Chr16:1279324-31926800
ABAT, ABCA3, ADCY9, ALDOA, AQP8, ABCC6, ATP2A1, ATP6V0C, TNFRSF17, CCNF, CD19, CDR2, CLCN7, CLN3, COX6A2, CREBBP, CRYM, CTF1, ECI1, SEPT1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, FUS, GFER, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HMOX2, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KIF22, MAZ, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFAB1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PHKG2, PKD1, PLK1, PMM2, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, RBBP6, RPL3L, RPS2, RPS15A, ACSM3, SCNN1B, SCNN1G, SRL, SLC5A2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TBX6, ELOB, TFAP4, TGFB1I1, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, BCL7C, NPIPA1, TAOK2, SLC9A3R2, LITAF, MARF1, SEC14L5, ZNF646, CCP110, SETD1A, IFT140, RNF40, TELO2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, COQ7, IGSF6, BCKDK, ZNF267, CACNG3, CD2BP2, CDIPT, ERN2, TBL3, SRCAP, RNPS1, PRSS21, CORO1A, ATXN2L, SEPHS2, PDXDC1, SMG1, CLUAP1, GGA2, NPIPB3, MAPK8IP3, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ZNF629, NOMO1, TPSD1, QPRT, SRRM2, CARHSP1, RAB26, TMEM186, SH2B1, TBC1D10B, ZNF500, RSL1D1, SEZ6L2, NUPR1, LAT, TNRC6A, DEXI, C16orf72, ZC3H7A, PYCARD, UBN1, MYLPF, EEF2K, CDIP1, IL21R, AMDHD2, PAM16, TXNDC11, METTL9, NAGPA, BFAR, AHSP, TNFRSF12A, ZNF771, LCMT1, GDE1, GPRC5B, MSRB1, SYT17, KCTD5, FBXL19, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, ARHGAP17, CPPED1, DNAH3, THUMPD1, POLR3E, APOBR, ALG1, UBFD1, C16orf62, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MKL2, CASKIN1, CRAMP1, PRM3, CHP2, PRSS22, XYLT1, MLST8, FBRS, MMP25, TPSB2, HS3ST6, UNKL, C16orf58, ZNF747, MRPS34, PRR14, VKORC1, SLX1B, DCTPP1, METTL22, GDPD3, THOC6, KREMEN2, PAGR1, CORO7, ROGDI, TMEM204, ZNF768, PALB2, ZNF668, ARMC5, KDM8, TMC5, RABEP2, NAA60, TMC7, ATF7IP2, C16orf59, HSD3B7, FAHD1, YPEL3, FAM57B, PRSS27, SPNS1, KAT8, TRAF7, FLYWCH1, NUDT16L1, SLX4, DCTN5, GNPTG, GLYR1, GLIS2, ZSCAN10, NFATC2IP, C16orf45, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, COG7, SNX29, ZNF764, ORAI3, PRRT2, ERI2, STX1B, SGF29, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RMI2, ACSM1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPT12, ZNF720, TMEM219, EARS2, VWA3A, OTOA, TEKT5, RNF151, C16orf92, GSG1L, ZNF597, BICDL2, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ITPRIPL2, C16orf82, EEF2KMT, EME2, , NLRC3, NSMCE1, ZNF48, PDILT, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, PYDC1, NOMO2, NPW, BRICD5, PGP, C16orf54, INO80E, ZNF843, C16orf91, TMEM114, PRSS53, C16orf96, ZKSCAN2, ACSM2B, PRSS41, SBK1, PTX4, BCAR4, KNOP1, NOMO3, SMIM22, NPIPB4, SULT1A4, TRIM72, SLX1A, BOLA2, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, SHISA9, C16orf52, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr16:1280042-33710558
ABAT, ABCA3, ADCY9, ALDOA, AQP8, ABCC6, ATP2A1, ATP6V0C, TNFRSF17, CCNF, CD19, CDR2, CLCN7, CLN3, COX6A2, CREBBP, CRYM, CTF1, ECI1, SEPT1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, FUS, GFER, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HMOX2, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KIF22, MAZ, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFAB1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PHKG2, PKD1, PLK1, PMM2, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, RBBP6, RPL3L, RPS2, RPS15A, ACSM3, SCNN1B, SCNN1G, SRL, SLC5A2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TBX6, ELOB, TFAP4, TGFB1I1, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, BCL7C, NPIPA1, TAOK2, SLC9A3R2, LITAF, MARF1, SEC14L5, ZNF646, CCP110, SETD1A, IFT140, RNF40, TELO2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, COQ7, IGSF6, BCKDK, ZNF267, CACNG3, CD2BP2, CDIPT, ERN2, TBL3, SRCAP, RNPS1, PRSS21, CORO1A, ATXN2L, SEPHS2, PDXDC1, SMG1, CLUAP1, GGA2, NPIPB3, MAPK8IP3, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ZNF629, NOMO1, TPSD1, QPRT, SRRM2, CARHSP1, TP53TG3, RAB26, TMEM186, SH2B1, TBC1D10B, ZNF500, RSL1D1, SEZ6L2, NUPR1, LAT, TNRC6A, DEXI, C16orf72, ZC3H7A, PYCARD, UBN1, MYLPF, EEF2K, CDIP1, IL21R, AMDHD2, PAM16, TXNDC11, METTL9, NAGPA, BFAR, AHSP, TNFRSF12A, ZNF771, LCMT1, GDE1, GPRC5B, MSRB1, SYT17, KCTD5, FBXL19, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, ARHGAP17, CPPED1, DNAH3, THUMPD1, POLR3E, APOBR, ALG1, UBFD1, C16orf62, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MKL2, CASKIN1, CRAMP1, PRM3, CHP2, PRSS22, XYLT1, MLST8, FBRS, MMP25, TPSB2, HS3ST6, UNKL, C16orf58, ZNF747, MRPS34, PRR14, VKORC1, SLX1B, DCTPP1, METTL22, GDPD3, THOC6, KREMEN2, PAGR1, CORO7, ROGDI, TMEM204, ZNF768, PALB2, ZNF668, ARMC5, KDM8, TMC5, RABEP2, NAA60, TMC7, ATF7IP2, C16orf59, HSD3B7, FAHD1, YPEL3, FAM57B, PRSS27, SPNS1, KAT8, TRAF7, FLYWCH1, NUDT16L1, SLX4, DCTN5, GNPTG, GLYR1, GLIS2, ZSCAN10, NFATC2IP, C16orf45, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, COG7, SNX29, ZNF764, ORAI3, PRRT2, ERI2, STX1B, SGF29, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RMI2, ACSM1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPT12, ZNF720, TMEM219, EARS2, VWA3A, OTOA, TEKT5, RNF151, C16orf92, GSG1L, ZNF597, BICDL2, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ITPRIPL2, C16orf82, EEF2KMT, EME2, CASP16P, NLRC3, NSMCE1, ZNF48, PDILT, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, PYDC1, NOMO2, NPW, BRICD5, PGP, C16orf54, INO80E, ZNF843, C16orf91, TMEM114, PRSS53, C16orf96, ZKSCAN2, ACSM2B, PRSS41, SBK1, PTX4, BCAR4, KNOP1, NOMO3, SMIM22, NPIPB4, SULT1A4, TRIM72, SLX1A, BOLA2, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, TP53TG3C, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, C16orf52, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16
HemimegalencephalyPathogenicno assertion criteria provided
4.
GRCh37:
Chr16:3292061
GRCh38:
Chr16:3242061
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr16:3292085
GRCh38:
Chr16:3242085
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:3292112
GRCh38:
Chr16:3242112
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:3292304-3292305
GRCh38:
Chr16:3242304-3242305
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:3292323
GRCh38:
Chr16:3242323
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:3292362
GRCh38:
Chr16:3242362
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:3292380
GRCh38:
Chr16:3242380
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:3292398
GRCh38:
Chr16:3242398
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:3292417
GRCh38:
Chr16:3242417
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr16:3292440
GRCh38:
Chr16:3242440
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr16:3292462
GRCh38:
Chr16:3242462
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:3292502
GRCh38:
Chr16:3242502
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:3292598
GRCh38:
Chr16:3242598
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:3292666
GRCh38:
Chr16:3242666
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr16:3292667
GRCh38:
Chr16:3242667
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:3292672-3292674
GRCh38:
Chr16:3242672-3242674
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr16:3292673-3292675
GRCh38:
Chr16:3242673-3242675
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr16:3292738
GRCh38:
Chr16:3242738
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr16:3292849
GRCh38:
Chr16:3242849
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr16:3292861
GRCh38:
Chr16:3242861
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr16:3292874
GRCh38:
Chr16:3242874
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:3292896
GRCh38:
Chr16:3242896
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr16:3292972
GRCh38:
Chr16:3242972
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr16:3293008
GRCh38:
Chr16:3243008
MEFVFamilial Mediterranean feverLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:3293067
GRCh38:
Chr16:3243067
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr16:3293120
GRCh38:
Chr16:3243120
MEFVFamilial Mediterranean fevernot providedno assertion provided
30.
GRCh37:
Chr16:3293122
GRCh38:
Chr16:3243122
MEFVFamilial Mediterranean feverUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr16:3293129
GRCh38:
Chr16:3243129
MEFVFamilial Mediterranean fevernot providedno assertion provided
32.
GRCh37:
Chr16:3293149
GRCh38:
Chr16:3243149
MEFVFamilial Mediterranean fever, not specifiedUncertain significance
(Oct 28, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr16:3293150
GRCh38:
Chr16:3243150
MEFVFamilial Mediterranean fever, not specifiedUncertain significance
(Jul 23, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr16:3293173
GRCh38:
Chr16:3243173
MEFVFamilial Mediterranean fever, not specifiedUncertain significance
(Apr 27, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr16:3293182
GRCh38:
Chr16:3243182
MEFVFamilial Mediterranean fevernot providedno assertion provided
36.
GRCh37:
Chr16:3293195
GRCh38:
Chr16:3243195
MEFVnot specifiedUncertain significance
(Jan 20, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr16:3293205
GRCh38:
Chr16:3243205
MEFVFamilial Mediterranean fever, not providedPathogenic
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr16:3293215
GRCh38:
Chr16:3243215
MEFVFamilial Mediterranean fevernot providedno assertion provided
39.
GRCh37:
Chr16:3293224
GRCh38:
Chr16:3243224
MEFVFamilial Mediterranean fevernot providedno assertion provided
40.
GRCh37:
Chr16:3293228
GRCh38:
Chr16:3243228
MEFVFamilial Mediterranean fevernot providedno assertion provided
41.
GRCh37:
Chr16:3293241
GRCh38:
Chr16:3243241
MEFVFamilial Mediterranean fevernot providedno assertion provided
42.
GRCh37:
Chr16:3293257
GRCh38:
Chr16:3243257
MEFVFamilial Mediterranean fever, not providedPathogenic/Likely pathogenic
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:3293258
GRCh38:
Chr16:3243258
MEFVFamilial Mediterranean fevernot providedno assertion provided
44.
GRCh37:
Chr16:3293258
GRCh38:
Chr16:3243258
MEFVFamilial Mediterranean fevernot providedno assertion provided
45.
GRCh37:
Chr16:3293259
GRCh38:
Chr16:3243259
MEFVFamilial Mediterranean fevernot providedno assertion provided
46.
GRCh37:
Chr16:3293260
GRCh38:
Chr16:3243260
MEFVnot specifiedUncertain significance
(Feb 12, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr16:3293310
GRCh38:
Chr16:3243310
MEFVFamilial Mediterranean fever, not providedPathogenic
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:3293318
GRCh38:
Chr16:3243318
MEFVFamilial Mediterranean fevernot providedno assertion provided
49.
GRCh37:
Chr16:3293323
GRCh38:
Chr16:3243323
MEFVFamilial Mediterranean fevernot providedno assertion provided
50.
GRCh37:
Chr16:3293327
GRCh38:
Chr16:3243327
MEFVFamilial Mediterranean fevernot providedno assertion provided
51.
GRCh37:
Chr16:3293338
GRCh38:
Chr16:3243338
MEFVFamilial Mediterranean fevernot providedno assertion provided
52.
GRCh37:
Chr16:3293341
GRCh38:
Chr16:3243341
MEFVnot specifiedUncertain significance
(Mar 24, 2014)
criteria provided, single submitter
53.
GRCh37:
Chr16:3293346
GRCh38:
Chr16:3243346
MEFVnot specifiedUncertain significance
(Sep 29, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr16:3293361
GRCh38:
Chr16:3243361
MEFVFamilial Mediterranean fevernot providedno assertion provided
55.
GRCh37:
Chr16:3293365
GRCh38:
Chr16:3243365
MEFVFamilial Mediterranean fevernot providedno assertion provided
56.
GRCh37:
Chr16:3293369
GRCh38:
Chr16:3243369
MEFVFamilial Mediterranean fever, not specifiedBenign/Likely benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:3293374
GRCh38:
Chr16:3243374
MEFVFamilial Mediterranean fevernot providedno assertion provided
58.
GRCh37:
Chr16:3293377
GRCh38:
Chr16:3243377
MEFVFamilial Mediterranean fevernot providedno assertion provided
59.
GRCh37:
Chr16:3293378
GRCh38:
Chr16:3243378
MEFVFamilial Mediterranean fevernot providedno assertion provided
60.
GRCh37:
Chr16:3293382
GRCh38:
Chr16:3243382
MEFVFamilial Mediterranean fevernot providedno assertion provided
61.
GRCh37:
Chr16:3293384
GRCh38:
Chr16:3243384
MEFVFamilial Mediterranean fever, not specifiedBenign
(May 28, 2013)
criteria provided, single submitter
62.
GRCh37:
Chr16:3293402
GRCh38:
Chr16:3243402
MEFVFamilial Mediterranean fevernot providedno assertion provided
63.
GRCh37:
Chr16:3293403
Chr16:3293257
GRCh38:
Chr16:3243403
Chr16:3243257
MEFVFamilial Mediterranean feverLikely pathogenic
(Aug 20, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr16:3293403
GRCh38:
Chr16:3243403
MEFVFamilial Mediterranean fevernot providedno assertion provided
65.
GRCh37:
Chr16:3293403
GRCh38:
Chr16:3243403
MEFVFamilial Mediterranean fever, Familial mediterranean fever, autosomal dominant, Syncope,
not provided, Peripheral neuropathy, Abnormality of the teeth,
Urticaria, Intermittent diarrhea, Cachexia
Conflicting interpretations of pathogenicity
(Dec 15, 2016)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr16:3293404-3293406
GRCh38:
Chr16:3243404-3243406
MEFVFamilial Mediterranean fever, Familial mediterranean fever, autosomal dominantPathogenic
(Dec 15, 2016)
no assertion criteria provided
67.
GRCh37:
Chr16:3293405
Chr16:3304626
GRCh38:
Chr16:3243405
Chr16:3254626
MEFVFamilial mediterranean fever, autosomal dominantPathogenic
(Apr 1, 2000)
no assertion criteria provided
68.
GRCh37:
Chr16:3293405
GRCh38:
Chr16:3243405
MEFVFamilial Mediterranean fever, not providedPathogenic
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:3293407
GRCh38:
Chr16:3243407
MEFVFamilial Mediterranean fevernot providedno assertion provided
70.
GRCh37:
Chr16:3293407
GRCh38:
Chr16:3243407
MEFVFamilial Mediterranean fever, not providedPathogenic
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:3293408
GRCh38:
Chr16:3243408
MEFVFamilial Mediterranean fevernot providedno assertion provided
72.
GRCh37:
Chr16:3293409-3293411
GRCh38:
Chr16:3243409-3243411
MEFVFamilial Mediterranean fever, not providedPathogenic
(Dec 19, 2016)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr16:3293423
GRCh38:
Chr16:3243423
MEFVFamilial Mediterranean feverPathogenic
(Dec 15, 2016)
no assertion criteria provided
74.
GRCh37:
Chr16:3293424
GRCh38:
Chr16:3243424
MEFVFamilial Mediterranean fevernot providedno assertion provided
75.
GRCh37:
Chr16:3293427
GRCh38:
Chr16:3243427
MEFVFamilial Mediterranean fever, not providedPathogenic
(May 26, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr16:3293434
GRCh38:
Chr16:3243434
MEFVFamilial Mediterranean fevernot providedno assertion provided
77.
GRCh37:
Chr16:3293438
GRCh38:
Chr16:3243438
MEFVFamilial Mediterranean fevernot providedno assertion provided
78.
GRCh37:
Chr16:3293445
GRCh38:
Chr16:3243445
MEFVFamilial Mediterranean fevernot providedno assertion provided
79.
GRCh37:
Chr16:3293447
GRCh38:
Chr16:3243447
MEFVnot providedLikely pathogenic
(Jan 25, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr16:3293447
GRCh38:
Chr16:3243447
MEFVFamilial Mediterranean fever, not providedPathogenic
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:3293447
GRCh38:
Chr16:3243447
MEFVFamilial Mediterranean fever, not providedPathogenic
(Sep 16, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr16:3293449
GRCh38:
Chr16:3243449
MEFVFamilial Mediterranean fevernot providedno assertion provided
83.
GRCh37:
Chr16:3293454
GRCh38:
Chr16:3243454
MEFVFamilial Mediterranean fever, not specifiedUncertain significance
(Sep 29, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr16:3293463
GRCh38:
Chr16:3243463
MEFVFamilial Mediterranean fevernot providedno assertion provided
85.
GRCh37:
Chr16:3293491
GRCh38:
Chr16:3243491
MEFVFamilial Mediterranean fevernot providedno assertion provided
86.
GRCh37:
Chr16:3293506
GRCh38:
Chr16:3243506
MEFVFamilial Mediterranean fevernot providedno assertion provided
87.
GRCh37:
Chr16:3293512
GRCh38:
Chr16:3243512
MEFVFamilial Mediterranean fevernot providedno assertion provided
88.
GRCh37:
Chr16:3293520
GRCh38:
Chr16:3243520
MEFVFamilial Mediterranean fevernot providedno assertion provided
89.
GRCh37:
Chr16:3293529
GRCh38:
Chr16:3243529
MEFVFamilial Mediterranean fever, not providedPathogenic
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:3293530
GRCh38:
Chr16:3243530
MEFVnot specifiedUncertain significance
(Aug 27, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr16:3293531
GRCh38:
Chr16:3243531
MEFVFamilial Mediterranean fevernot providedno assertion provided
92.
GRCh37:
Chr16:3293538
GRCh38:
Chr16:3243538
MEFVFamilial Mediterranean fevernot providedno assertion provided
93.
GRCh37:
Chr16:3293541
GRCh38:
Chr16:3243541
MEFVFamilial Mediterranean fevernot providedno assertion provided
94.
GRCh37:
Chr16:3293549
GRCh38:
Chr16:3243549
MEFVFamilial Mediterranean fevernot providedno assertion provided
95.
GRCh37:
Chr16:3293550
GRCh38:
Chr16:3243550
MEFVFamilial Mediterranean fevernot providedno assertion provided
96.
GRCh37:
Chr16:3293566
GRCh38:
Chr16:3243566
MEFVFamilial Mediterranean fevernot providedno assertion provided
97.
GRCh37:
Chr16:3293567
GRCh38:
Chr16:3243567
MEFVFamilial Mediterranean fevernot providedno assertion provided
98.
GRCh37:
Chr16:3293577
GRCh38:
Chr16:3243577
MEFVFamilial Mediterranean fevernot providedno assertion provided
99.
GRCh37:
Chr16:3293593
GRCh38:
Chr16:3243593
MEFVFamilial Mediterranean fevernot providedno assertion provided
100.
GRCh37:
Chr16:3293601
GRCh38:
Chr16:3243601
MEFVnot specifiedUncertain significance
(Jun 15, 2015)
criteria provided, single submitter
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