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Items: 1 to 100 of 654

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
2.
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
3.
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
4.
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
5.
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
6.
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
7.
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
8.
GRCh37:
Chr16:16243952
GRCh38:
Chr16:16150095
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
9.
GRCh37:
Chr16:16243973
GRCh38:
Chr16:16150116
ABCC6Pseudoxanthoma elasticumBenigncriteria provided, single submitter
10.
GRCh37:
Chr16:16244001
GRCh38:
Chr16:16150144
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
11.
GRCh37:
Chr16:16244054
GRCh38:
Chr16:16150197
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
12.
GRCh37:
Chr16:16244061
GRCh38:
Chr16:16150204
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
13.
GRCh37:
Chr16:16244068
GRCh38:
Chr16:16150211
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
14.
GRCh37:
Chr16:16244082
GRCh38:
Chr16:16150225
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
15.
GRCh37:
Chr16:16244424
GRCh38:
Chr16:16150567
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
16.
GRCh37:
Chr16:16244434
GRCh38:
Chr16:16150577
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
17.
GRCh37:
Chr16:16244457
GRCh38:
Chr16:16150600
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
18.
GRCh37:
Chr16:16244461
GRCh38:
Chr16:16150604
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
19.
GRCh37:
Chr16:16244463
GRCh38:
Chr16:16150606
ABCC6Pseudoxanthoma elasticum, not specifiedUncertain significance
(Mar 28, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr16:16244497
GRCh38:
Chr16:16150640
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
21.
GRCh37:
Chr16:16244503
GRCh38:
Chr16:16150646
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
22.
GRCh37:
Chr16:16244514
GRCh38:
Chr16:16150657
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
23.
GRCh37:
Chr16:16244520
GRCh38:
Chr16:16150663
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
24.
GRCh37:
Chr16:16244526-16244532
GRCh38:
Chr16:16150669-16150675
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
25.
GRCh37:
Chr16:16244533
GRCh38:
Chr16:16150676
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
26.
GRCh37:
Chr16:16244567
GRCh38:
Chr16:16150710
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
27.
GRCh37:
Chr16:16244584
GRCh38:
Chr16:16150727
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
28.
GRCh37:
Chr16:16244584
GRCh38:
Chr16:16150727
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
29.
GRCh37:
Chr16:16244585
GRCh38:
Chr16:16150728
ABCC6Pseudoxanthoma elasticum, not providedUncertain significance
(Feb 28, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr16:16244589
GRCh38:
Chr16:16150732
ABCC6not providedUncertain significance
(Sep 16, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr16:16244594-16244595
GRCh38:
Chr16:16150737-16150738
ABCC6Pseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria provided
32.
GRCh37:
Chr16:16244597
GRCh38:
Chr16:16150740
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
33.
GRCh37:
Chr16:16244618-16244619
GRCh38:
Chr16:16150761-16150762
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
34.
GRCh37:
Chr16:16244622
GRCh38:
Chr16:16150765
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 1, 2010)
no assertion criteria provided
35.
GRCh37:
Chr16:16244625
GRCh38:
Chr16:16150768
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
36.
GRCh37:
Chr16:16244629
GRCh38:
Chr16:16150772
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
37.
GRCh37:
Chr16:16244631
GRCh38:
Chr16:16150774
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
38.
GRCh37:
Chr16:16245107-16261514
GRCh38:
Chr16:16151250-16167657
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
39.
GRCh37:
Chr16:16248476
GRCh38:
Chr16:16154619
ABCC6Pseudoxanthoma elasticumBenignno assertion criteria provided
40.
GRCh37:
Chr16:16248495
GRCh38:
Chr16:16154638
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
41.
GRCh37:
Chr16:16248501
GRCh38:
Chr16:16154644
ABCC6Pseudoxanthoma elasticumPathogenic
(Nov 27, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr16:16248504
GRCh38:
Chr16:16154647
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
43.
GRCh37:
Chr16:16248511
GRCh38:
Chr16:16154654
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
44.
GRCh37:
Chr16:16248511
GRCh38:
Chr16:16154654
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Dec 15, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr16:16248589
GRCh38:
Chr16:16154732
ABCC6Pseudoxanthoma elasticum, Abnormality of the eyePathogeniccriteria provided, single submitter
46.
GRCh37:
Chr16:16248612
GRCh38:
Chr16:16154755
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Aug 18, 2015)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:16248624
GRCh38:
Chr16:16154767
ABCC6Pseudoxanthoma elasticum, not providedConflicting interpretations of pathogenicityno assertion criteria provided
48.
GRCh37:
Chr16:16248633
GRCh38:
Chr16:16154776
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
49.
GRCh37:
Chr16:16248645
GRCh38:
Chr16:16154788
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
50.
GRCh37:
Chr16:16248680
GRCh38:
Chr16:16154823
ABCC6not specifiedLikely benign
(Nov 17, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr16:16248730
GRCh38:
Chr16:16154873
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
52.
GRCh37:
Chr16:16248735
GRCh38:
Chr16:16154878
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
53.
GRCh37:
Chr16:16248746
GRCh38:
Chr16:16154889
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
54.
GRCh37:
Chr16:16248755
GRCh38:
Chr16:16154898
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
55.
GRCh37:
Chr16:16248755
GRCh38:
Chr16:16154898
ABCC6Pseudoxanthoma elasticum, not providedPathogenic/Likely pathogenic
(Mar 4, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:16248756
GRCh38:
Chr16:16154899
ABCC6Pseudoxanthoma elasticumPathogenic
(Jun 15, 2018)
no assertion criteria provided
57.
GRCh37:
Chr16:16248767
GRCh38:
Chr16:16154910
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
58.
GRCh37:
Chr16:16248767
GRCh38:
Chr16:16154910
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
59.
GRCh37:
Chr16:16248769
GRCh38:
Chr16:16154912
ABCC6not providedUncertain significance
(Jan 31, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr16:16248772
GRCh38:
Chr16:16154915
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
61.
GRCh37:
Chr16:16248793
GRCh38:
Chr16:16154936
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
62.
GRCh37:
Chr16:16248795
GRCh38:
Chr16:16154938
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
63.
GRCh37:
Chr16:16248800
GRCh38:
Chr16:16154943
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
64.
GRCh37:
Chr16:16248810
GRCh38:
Chr16:16154953
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
65.
GRCh37:
Chr16:16248818
GRCh38:
Chr16:16154961
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
66.
GRCh37:
Chr16:16248830
GRCh38:
Chr16:16154973
ABCC6Pseudoxanthoma elasticum, not specifiedConflicting interpretations of pathogenicity
(Mar 28, 2016)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr16:16248831
GRCh38:
Chr16:16154974
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2, not provided
Pathogenic
(Sep 27, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr16:16248839
GRCh38:
Chr16:16154982
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
69.
GRCh37:
Chr16:16248852
GRCh38:
Chr16:16154995
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
70.
GRCh37:
Chr16:16248859
GRCh38:
Chr16:16155002
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
71.
GRCh37:
Chr16:16248864
GRCh38:
Chr16:16155007
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
72.
GRCh37:
Chr16:16248867
GRCh38:
Chr16:16155010
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(May 8, 2017)
criteria provided, single submitter
73.
GRCh37:
Chr16:16248869
GRCh38:
Chr16:16155012
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
74.
GRCh37:
Chr16:16248876
GRCh38:
Chr16:16155019
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
75.
GRCh37:
Chr16:16248879
GRCh38:
Chr16:16155022
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
76.
GRCh37:
Chr16:16248893
GRCh38:
Chr16:16155036
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
77.
GRCh37:
Chr16:16248894
GRCh38:
Chr16:16155037
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
78.
GRCh37:
Chr16:16248898
GRCh38:
Chr16:16155041
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
79.
GRCh37:
Chr16:16248912
GRCh38:
Chr16:16155055
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
80.
GRCh37:
Chr16:16249938-16258055
GRCh38:
Chr16:16156081-16164198
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
81.
GRCh37:
Chr16:16251519-16251526
GRCh38:
Chr16:16157662-16157669
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
82.
GRCh37:
Chr16:16251520-16251522
GRCh38:
Chr16:16157663-16157665
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
83.
GRCh37:
Chr16:16251525
GRCh38:
Chr16:16157668
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
84.
GRCh37:
Chr16:16251531
GRCh38:
Chr16:16157674
ABCC6Pseudoxanthoma elasticum, not specifiedBenign
(Mar 20, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr16:16251533-16251536
GRCh38:
Chr16:16157676-16157679
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
86.
GRCh37:
Chr16:16251534-16251581
GRCh38:
Chr16:16157677-16157724
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
87.
GRCh37:
Chr16:16251574-16251586
GRCh38:
Chr16:16157717-16157729
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
88.
GRCh37:
Chr16:16251579
GRCh38:
Chr16:16157722
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
89.
GRCh37:
Chr16:16251584
GRCh38:
Chr16:16157727
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
90.
GRCh37:
Chr16:16251599
GRCh38:
Chr16:16157742
ABCC6Pseudoxanthoma elasticum, not providedBenigncriteria provided, single submitter
91.
GRCh37:
Chr16:16251600
GRCh38:
Chr16:16157743
ABCC6not providedUncertain significance
(May 31, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr16:16251604
GRCh38:
Chr16:16157747
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
93.
GRCh37:
Chr16:16251612
GRCh38:
Chr16:16157755
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
94.
GRCh37:
Chr16:16251615
GRCh38:
Chr16:16157758
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitter
95.
GRCh37:
Chr16:16251625
GRCh38:
Chr16:16157768
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
96.
GRCh37:
Chr16:16251626-16251627
GRCh38:
Chr16:16157769-16157770
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
97.
GRCh37:
Chr16:16251627-16251628
GRCh38:
Chr16:16157770-16157771
ABCC6Pseudoxanthoma elasticumPathogenicno assertion criteria provided
98.
GRCh37:
Chr16:16251627
GRCh38:
Chr16:16157770
ABCC6Pseudoxanthoma elasticumPathogenic
(Dec 1, 2009)
no assertion criteria provided
99.
GRCh37:
Chr16:16251663
GRCh38:
Chr16:16157806
ABCC6not specifiedUncertain significance
(Aug 25, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr16:16251667
GRCh38:
Chr16:16157810
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jan 13, 2012)
no assertion criteria provided
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