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Items: 1 to 100 of 145

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
CLCN7Osteopetrosis autosomal dominant type 2Pathogenic
(Dec 1, 2001)
no assertion criteria provided
2.
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, MRTFB, CASKIN1, CRAMP1, PRM3, PRSS22, XYLT1, MLST8, MMP25, TPSB2, HS3ST6, UNKL, MRPS34, METTL22, THOC6, KREMEN2, CORO7, ROGDI, TMEM204, NAA60, TMC7, ATF7IP2, TEDC2, 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
3.
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, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MRTFB, 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, TEDC2, 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, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
4.
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, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MRTFB, 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, TEDC2, 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, TP53TG3C, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16
HemimegalencephalyPathogenicno assertion criteria provided
5.
GRCh37:
Chr16:1494947
GRCh38:
Chr16:1444946
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr16:1494987
GRCh38:
Chr16:1444986
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr16:1495006
GRCh38:
Chr16:1445005
CLCN7OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr16:1495008-1495010
GRCh38:
Chr16:1445007-1445009
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr16:1495043
GRCh38:
Chr16:1445042
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:1495135
GRCh38:
Chr16:1445134
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr16:1495141
GRCh38:
Chr16:1445140
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr16:1495180
GRCh38:
Chr16:1445179
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr16:1495211
GRCh38:
Chr16:1445210
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr16:1495229
GRCh38:
Chr16:1445228
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr16:1495243
GRCh38:
Chr16:1445242
CLCN7OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr16:1495300
GRCh38:
Chr16:1445299
CLCN7OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr16:1495335
GRCh38:
Chr16:1445334
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr16:1495339
GRCh38:
Chr16:1445338
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr16:1495384
GRCh38:
Chr16:1445383
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr16:1495443
GRCh38:
Chr16:1445442
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr16:1495456
GRCh38:
Chr16:1445455
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr16:1495475
GRCh38:
Chr16:1445474
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr16:1495488-1495489
GRCh38:
Chr16:1445487-1445488
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr16:1495488
GRCh38:
Chr16:1445487
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr16:1495642
GRCh38:
Chr16:1445641
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr16:1495745
GRCh38:
Chr16:1445744
CLCN7OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr16:1495746
GRCh38:
Chr16:1445745
CLCN7OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr16:1495835
GRCh38:
Chr16:1445834
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr16:1495897
GRCh38:
Chr16:1445896
CLCN7OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr16:1495915
GRCh38:
Chr16:1445914
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr16:1496005
GRCh38:
Chr16:1446004
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr16:1496018
GRCh38:
Chr16:1446017
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr16:1496040
GRCh38:
Chr16:1446039
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr16:1496089
GRCh38:
Chr16:1446088
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr16:1496136
GRCh38:
Chr16:1446135
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr16:1496218
GRCh38:
Chr16:1446217
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr16:1496236
GRCh38:
Chr16:1446235
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr16:1496244
GRCh38:
Chr16:1446243
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr16:1496253
GRCh38:
Chr16:1446252
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr16:1496277
GRCh38:
Chr16:1446276
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr16:1496391
GRCh38:
Chr16:1446390
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr16:1496404
GRCh38:
Chr16:1446403
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr16:1496502
GRCh38:
Chr16:1446501
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr16:1496575
GRCh38:
Chr16:1446574
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr16:1496613
GRCh38:
Chr16:1446612
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr16:1496993
GRCh38:
Chr16:1446992
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr16:1497039
GRCh38:
Chr16:1447038
CLCN7Osteopetrosis autosomal dominant type 2, Osteopetrosis autosomal recessive 4Pathogenic
(Jun 20, 2013)
no assertion criteria provided
48.
GRCh37:
Chr16:1497041
GRCh38:
Chr16:1447040
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Dec 1, 2001)
no assertion criteria provided
49.
GRCh37:
Chr16:1497053
GRCh38:
Chr16:1447052
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Jan 26, 2001)
no assertion criteria provided
50.
GRCh37:
Chr16:1497392
GRCh38:
Chr16:1447391
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Jul 26, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr16:1497429
GRCh38:
Chr16:1447428
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr16:1497489
GRCh38:
Chr16:1447488
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr16:1497493
GRCh38:
Chr16:1447492
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr16:1497499
GRCh38:
Chr16:1447498
CLCN7not providedPathogenic
(Oct 31, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr16:1497640
GRCh38:
Chr16:1447639
CLCN7not specifiedBenigncriteria provided, single submitter
56.
GRCh37:
Chr16:1497701
GRCh38:
Chr16:1447700
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr16:1498408
GRCh38:
Chr16:1448407
CLCN7not providedLikely benign
(Jun 12, 2015)
criteria provided, single submitter
58.
GRCh37:
Chr16:1498724
GRCh38:
Chr16:1448723
CLCN7not specifiedUncertain significance
(Apr 12, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr16:1498759
GRCh38:
Chr16:1448758
CLCN7not specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr16:1498775
GRCh38:
Chr16:1448774
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:1498777
GRCh38:
Chr16:1448776
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:1498951
GRCh38:
Chr16:1448950
CLCN7not specifiedBenigncriteria provided, single submitter
63.
GRCh37:
Chr16:1499082
GRCh38:
Chr16:1449081
CLCN7Osteopetrosis autosomal recessive 4Likely pathogenic
(Jan 17, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr16:1499283
GRCh38:
Chr16:1449282
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Jan 26, 2001)
no assertion criteria provided
65.
GRCh37:
Chr16:1500485
GRCh38:
Chr16:1450484
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr16:1500501
GRCh38:
Chr16:1450500
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr16:1501724
GRCh38:
Chr16:1451723
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr16:1502837
GRCh38:
Chr16:1452836
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr16:1502857
GRCh38:
Chr16:1452856
CLCN7Osteopetrosis autosomal recessive 4, not specified, Osteopetrosis
Benign/Likely benign
(Jun 22, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:1502864
GRCh38:
Chr16:1452863
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 22, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:1503879
GRCh38:
Chr16:1453878
CLCN7not specified, OsteopetrosisBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:1503884
GRCh38:
Chr16:1453883
CLCN7Osteopetrosis autosomal recessive 4Uncertain significance
(Dec 19, 2017)
no assertion criteria provided
73.
GRCh37:
Chr16:1503894
GRCh38:
Chr16:1453893
CLCN7not specifiedUncertain significance
(Oct 22, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr16:1504428
GRCh38:
Chr16:1454427
CLCN7not specifiedUncertain significance
(Apr 28, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr16:1504430
GRCh38:
Chr16:1454429
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr16:1504437
GRCh38:
Chr16:1454436
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:1505120
GRCh38:
Chr16:1455119
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr16:1505124
GRCh38:
Chr16:1455123
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr16:1505792
GRCh38:
Chr16:1455791
CLCN7OsteopetrosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr16:1506130
GRCh38:
Chr16:1456129
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:1506160
GRCh38:
Chr16:1456159
CLCN7not specifiedLikely benigncriteria provided, single submitter
82.
GRCh37:
Chr16:1506173
GRCh38:
Chr16:1456172
CLCN7Osteopetrosis autosomal dominant type 2Pathogenic
(Apr 20, 2017)
no assertion criteria provided
83.
GRCh37:
Chr16:1507238
GRCh38:
Chr16:1457237
CLCN7not specifiedBenign
(Jun 9, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr16:1507276
GRCh38:
Chr16:1457275
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr16:1507296
GRCh38:
Chr16:1457295
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Jan 1, 2007)
no assertion criteria provided
86.
GRCh37:
Chr16:1507300
GRCh38:
Chr16:1457299
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr16:1507704
GRCh38:
Chr16:1457703
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr16:1507737
GRCh38:
Chr16:1457736
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr16:1509123
GRCh38:
Chr16:1459122
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:1509140
GRCh38:
Chr16:1459139
CLCN7Osteopetrosis autosomal recessive 4Pathogenic
(Jun 20, 2013)
no assertion criteria provided
91.
GRCh37:
Chr16:1509142
GRCh38:
Chr16:1459141
CLCN7Osteopetrosis autosomal recessive 4Uncertain significance
(Dec 19, 2017)
no assertion criteria provided
92.
GRCh37:
Chr16:1509191
GRCh38:
Chr16:1459190
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr16:1510449
GRCh38:
Chr16:1460448
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr16:1510455
GRCh38:
Chr16:1460454
CLCN7not specifiedUncertain significance
(Jun 26, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr16:1510538
GRCh38:
Chr16:1460537
CLCN7not specified, OsteopetrosisBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:1510960
GRCh38:
Chr16:1460959
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr16:1511392
GRCh38:
Chr16:1461391
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr16:1511394
GRCh38:
Chr16:1461393
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr16:1511407
GRCh38:
Chr16:1461406
CLCN7OsteopetrosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr16:1511461
GRCh38:
Chr16:1461460
CLCN7Osteopetrosis autosomal dominant type 2, Osteopetrosis autosomal recessive 4, not provided
Likely pathogenic
(Mar 1, 2017)
criteria provided, single submitter
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