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Items: 1 to 100 of 134

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:12258147-140494267
ACHE, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK6, CFTR, CHN2, CHRM2, AP1S1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EPHB4, EPO, ERV3-1, ETV1, EVX1, FLNC, GARS, NIPSNAP2, GCK, GHRHR, GLI3, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HUS1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, IRF5, ITGB8, KCND2, LAMB1, LEP, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, MUC3A, NDUFA5, NDUFB2, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR2B, RELN, PSMA2, PSMC2, PSPH, PTN, PTPN12, PTPRZ1, PURB, RALA, RFC2, RNU2-1, RP9, CCL24, SFRP4, SLC13A1, SMO, SP4, SPAM1, SRI, AKR1D1, SRPK2, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, ZAN, EIF4H, CLIP2, LAT2, WNT2, YWHAG, ZNF3, ZKSCAN1, ZSCAN21, ZNF138, ZP3, MTERF1, SEM1, TFPI2, ST7, TRRAP, FZD1, FZD9, TPST1, FKBP6, CDK13, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, BCL7B, ATP6V1F, PMPCB, ATP5MF, GTF2IRD1, CREB5, NFE2L3, SEMA3E, DOCK4, HDAC9, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, DMTF1, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, DBF4, COPS6, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, DPY19L1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, AUTS2, TES, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, SND1, VPS41, TSPAN13, DENND2A, BBS9, CRCP, RABGEF1, POLM, PCLO, BZW2, DBNL, WDR91, NPC1L1, SNX10, TRA2A, HILPDA, MDFIC, PILRA, FSCN3, ERVW-1, ATP6V0A4, PNPLA8, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, ZNF107, ZC3HC1, SRRT, UBE2D4, LUC7L2, STYXL1, ASB4, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, ANLN, ANKIB1, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ALKBH4, SAMD9, CHCHD3, FKBP14, ZCWPW1, TMEM248, RBM28, TYW1, C7orf43, TMEM140, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, COA1, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, ANKRD7, ZC3HAV1, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, RHBDD2, STRIP2, CCDC146, KIAA1549, GATAD1, NFE4, MYL7, EXOC4, RINT1, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, GALNT17, TMEM168, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, C7orf49, GGCT, C7orf25, ZNF655, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, SUGCT, CFAP69, CBLL1, CPED1, TTC26, C7orf69, ORAI2, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, GTF2IRD2, MINDY4, SLC37A3, DNAJC30, FAM126A, FAM71F1, PLEKHA8, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, DTX2, BUD23, TSGA13, MALSU1, TMEM270, TRIM50, COL26A1, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, METTL27, VPS37D, AGR3, ZNF92, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, BHLHA15, BMPER, ZNF800, ABHD11-AS1, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, STEAP2, POM121L12, C7orf71, SPDYE1, SNHG15, ZNF789, LSMEM1, MESTIT1, ST7-OT4, ZNF680, ABCB5, FAM221A, TSPAN33, AGBL3, SEPT14, MACC1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, GJC3, GATS, GPR141, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, AGMO, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, ZNF727, SPDYE5, LMOD2, MIR335, MIR196B, TARP, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, WIPF3, STMP1, NCF1, SNORA5C, MIR590, ZNF736, CASTOR2, SPDYE6, ISPD, TMEM229A, ZNF735, LUZP6, POM121C, HECW1-IT1, SPATA48, UPK3BL1, RASA4B, SMKR1, SPDYE2B, HOTTIP, SAP25, LINC00972, LRRC72, HOTAIRM1, ATP5MF-PTCD1, KLHL7-AS1, C7orf55-LUC7L2, ZASP, LOC101928861
Pleomorphic xanthoastrocytomaPathogenicno assertion criteria provided
2.
GRCh37:
Chr7:33166070-33185898
GRCh38:
Chr7:33126458-33146286
BBS9Gestational diabetes mellitus uncontrollednot providedno assertion provided
3.
GRCh37:
Chr7:33169209
GRCh38:
Chr7:33129597
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr7:33169218
GRCh38:
Chr7:33129606
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr7:33169236
GRCh38:
Chr7:33129624
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr7:33169257
GRCh38:
Chr7:33129645
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr7:33169258
GRCh38:
Chr7:33129646
BBS9Bardet-Biedl syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr7:33169268
GRCh38:
Chr7:33129656
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr7:33169360
GRCh38:
Chr7:33129748
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr7:33169394
GRCh38:
Chr7:33129782
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr7:33169406
GRCh38:
Chr7:33129794
BBS9Bardet-Biedl syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr7:33169437
GRCh38:
Chr7:33129825
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr7:33169502
GRCh38:
Chr7:33129890
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr7:33169628
GRCh38:
Chr7:33130016
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr7:33169660
GRCh38:
Chr7:33130048
BBS9Bardet-Biedl syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr7:33185898
GRCh38:
Chr7:33146286
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:33185966-33185978
GRCh38:
Chr7:33146354-33146366
BBS9Bardet-Biedl syndrome 9Pathogenic
(Oct 5, 2015)
no assertion criteria provided
18.
GRCh37:
Chr7:33192423
GRCh38:
Chr7:33152811
BBS9Bardet-Biedl syndromePathogenicno assertion criteria provided
19.
GRCh37:
Chr7:33192463
GRCh38:
Chr7:33152851
BBS9Bardet-Biedl syndrome, not providedPathogenic/Likely pathogeniccriteria provided, single submitter
20.
GRCh37:
Chr7:33192464
GRCh38:
Chr7:33152852
BBS9Bardet-Biedl syndromePathogenic
(Oct 24, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr7:33192502
GRCh38:
Chr7:33152890
BBS9not specifiedBenigncriteria provided, single submitter
22.
GRCh37:
Chr7:33195256
GRCh38:
Chr7:33155644
BBS9not specifiedLikely benign
(Jul 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:33195258
GRCh38:
Chr7:33155646
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr7:33195336
GRCh38:
Chr7:33155724
BBS9not specifiedBenigncriteria provided, single submitter
25.
GRCh37:
Chr7:33217083
GRCh38:
Chr7:33177471
BBS9not specifiedUncertain significance
(Oct 3, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr7:33217146
GRCh38:
Chr7:33177534
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr7:33217182
GRCh38:
Chr7:33177570
BBS9Bardet-Biedl syndrome 9Pathogenic
(Dec 1, 2005)
no assertion criteria provided
28.
GRCh37:
Chr7:33217197
GRCh38:
Chr7:33177585
BBS9not specifiedUncertain significance
(Jul 19, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr7:33217204
GRCh38:
Chr7:33177592
BBS9Bardet-Biedl syndrome 9Pathogenic
(Dec 1, 2005)
no assertion criteria provided
30.
GRCh37:
Chr7:33195329-33195330
BBS9not specifiedUncertain significance
(Oct 3, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr7:33296960
GRCh38:
Chr7:33257348
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Feb 25, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:33303905
GRCh38:
Chr7:33264293
BBS9not specifiedLikely benign
(Feb 13, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr7:33304019
GRCh38:
Chr7:33264407
BBS9not specifiedBenigncriteria provided, single submitter
34.
GRCh37:
Chr7:33312657
GRCh38:
Chr7:33273045
BBS9Bardet-Biedl syndrome, not providedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:33312692
GRCh38:
Chr7:33273080
BBS9not specifiedConflicting interpretations of pathogenicity
(Sep 17, 2013)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr7:33312706
GRCh38:
Chr7:33273094
BBS9Bardet-Biedl syndrome 9Likely pathogenicno assertion criteria provided
37.
GRCh37:
Chr7:33312722-33312724
GRCh38:
Chr7:33273110-33273112
BBS9not specifiedUncertain significance
(Jul 14, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr7:33313432
GRCh38:
Chr7:33273820
BBS9Bardet-Biedl syndromeLikely benign
(Jan 18, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr7:33313508
GRCh38:
Chr7:33273896
BBS9Bardet-Biedl syndromePathogenicno assertion criteria provided
40.
GRCh37:
Chr7:33376047
GRCh38:
Chr7:33336435
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Dec 29, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:33376065
GRCh38:
Chr7:33336453
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:33376099
GRCh38:
Chr7:33336487
BBS9Bardet-Biedl syndrome 9Pathogenic
(Dec 1, 2005)
no assertion criteria provided
43.
GRCh37:
Chr7:33376146
GRCh38:
Chr7:33336534
BBS9not specifiedBenign/Likely benign
(Feb 25, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr7:33376166
GRCh38:
Chr7:33336554
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr7:33376203
GRCh38:
Chr7:33336591
BBS9Bardet-Biedl syndrome 9Pathogenic
(Jul 14, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr7:33380556
GRCh38:
Chr7:33340944
BBS9Bardet-Biedl syndrome, not specifiedBenign
(Dec 15, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:33380598
GRCh38:
Chr7:33340986
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr7:33380613
GRCh38:
Chr7:33341001
BBS9not specifiedBenigncriteria provided, single submitter
49.
GRCh37:
Chr7:33384197
GRCh38:
Chr7:33344585
BBS9Bardet-Biedl syndrome, not specified, not provided
Conflicting interpretations of pathogenicity
(Feb 22, 2017)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr7:33384201
GRCh38:
Chr7:33344589
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:33384225
GRCh38:
Chr7:33344613
BBS9not specifiedUncertain significance
(Feb 1, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr7:33384239
GRCh38:
Chr7:33344627
BBS9not specifiedUncertain significance
(Feb 22, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr7:33388713
GRCh38:
Chr7:33349101
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr7:33388720
GRCh38:
Chr7:33349108
BBS9Bardet-Biedl syndromePathogenic
(Jan 10, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr7:33388773
GRCh38:
Chr7:33349161
BBS9Bardet-Biedl syndromePathogenic
(Aug 31, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr7:33388829
GRCh38:
Chr7:33349217
BBS9not specifiedBenigncriteria provided, single submitter
57.
GRCh37:
Chr7:33390866
GRCh38:
Chr7:33351254
BBS9Bardet-Biedl syndromeUncertain significance
(Dec 20, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr7:33390884
GRCh38:
Chr7:33351272
BBS9Bardet-Biedl syndromeUncertain significance
(Sep 29, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr7:33390885
GRCh38:
Chr7:33351273
BBS9Bardet-Biedl syndromeUncertain significance
(Sep 2, 2015)
criteria provided, single submitter
60.
GRCh37:
Chr7:33390933
GRCh38:
Chr7:33351321
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr7:33392479
GRCh38:
Chr7:33352867
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Oct 1, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr7:33397456
GRCh38:
Chr7:33357844
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr7:33397476
GRCh38:
Chr7:33357864
BBS9Bardet-Biedl syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr7:33397560
GRCh38:
Chr7:33357948
BBS9not specified, not providedBenign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr7:33397562
GRCh38:
Chr7:33357950
BBS9not specified, not providedBenign/Likely benign
(May 4, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr7:33407373
GRCh38:
Chr7:33367761
BBS9Bardet-Biedl syndrome, not specifiedBenign/Likely benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr7:33407444
GRCh38:
Chr7:33367832
BBS9Bardet-Biedl syndrome 9Pathogenic
(Jun 27, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr7:33407452
GRCh38:
Chr7:33367840
BBS9Bardet-Biedl syndromeLikely benign
(Jan 21, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr7:33407453
GRCh38:
Chr7:33367841
BBS9not specifiedUncertain significance
(Jun 6, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr7:33407475
GRCh38:
Chr7:33367863
BBS9Bardet-Biedl syndrome 9, not providedPathogenic
(Oct 25, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr7:33423280
GRCh38:
Chr7:33383668
BBS9Bardet-Biedl syndrome 9Pathogenic
(Dec 1, 2005)
no assertion criteria provided
72.
GRCh37:
Chr7:33423337
GRCh38:
Chr7:33383725
BBS9Bardet-Biedl syndrome, not specified, not provided
Benign/Likely benign
(May 4, 2017)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr7:33423365-33423368
GRCh38:
Chr7:33383753-33383756
BBS9Bardet-Biedl syndrome 9, not providedPathogenic
(Dec 5, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr7:33423398
GRCh38:
Chr7:33383786
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr7:33423406
GRCh38:
Chr7:33383794
BBS9not specifiedUncertain significance
(Mar 30, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr7:33423411
GRCh38:
Chr7:33383799
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr7:33427634
GRCh38:
Chr7:33388022
BBS9Bardet-Biedl syndrome, not specifiedBenign
(Nov 24, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr7:33427686
GRCh38:
Chr7:33388074
BBS9Bardet-Biedl syndrome 9Pathogenic
(Dec 1, 2005)
no assertion criteria provided
79.
GRCh37:
Chr7:33427711
GRCh38:
Chr7:33388099
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr7:33427727
GRCh38:
Chr7:33388115
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr7:33427746
GRCh38:
Chr7:33388134
BBS9not specifiedUncertain significance
(Mar 17, 2015)
criteria provided, single submitter
82.
GRCh37:
Chr7:33427757
GRCh38:
Chr7:33388145
BBS9Bardet-Biedl syndromePathogenicno assertion criteria provided
83.
GRCh37:
Chr7:33545098
GRCh38:
Chr7:33505486
BBS9not specifiedLikely benign
(Mar 13, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr7:33545175
GRCh38:
Chr7:33505563
BBS9not specifiedLikely benign
(Feb 17, 2016)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr7:33545179
GRCh38:
Chr7:33505567
BBS9Bardet-Biedl syndrome, not specifiedBenign
(May 17, 2017)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr7:33545217
GRCh38:
Chr7:33505605
BBS9not specifiedUncertain significance
(Feb 29, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr7:33573546
GRCh38:
Chr7:33533934
BBS9not specifiedBenigncriteria provided, single submitter
88.
GRCh37:
Chr7:33573576
GRCh38:
Chr7:33533964
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr7:33573589
GRCh38:
Chr7:33533977
BBS9not specifiedLikely benigncriteria provided, single submitter
90.
GRCh37:
Chr7:33573603
GRCh38:
Chr7:33533991
BBS9Bardet-Biedl syndrome, not providedConflicting interpretations of pathogenicity
(Jul 28, 2017)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr7:33573630
GRCh38:
Chr7:33534018
BBS9not specifiedConflicting interpretations of pathogenicity
(Jan 9, 2017)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr7:33573670
GRCh38:
Chr7:33534058
BBS9not specifiedUncertain significance
(Sep 2, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr7:33573671
GRCh38:
Chr7:33534059
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr7:33573727
GRCh38:
Chr7:33534115
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr7:33573755
GRCh38:
Chr7:33534143
BBS9not specifiedUncertain significance
(Jul 25, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr7:33573766
GRCh38:
Chr7:33534154
BBS9not specifiedLikely benign
(Oct 11, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr7:33644493
GRCh38:
Chr7:33604881
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr7:33644548
GRCh38:
Chr7:33604936
BBS9Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr7:33644596
GRCh38:
Chr7:33604984
BBS9not specifiedLikely benigncriteria provided, single submitter
100.
GRCh37:
Chr7:33644820
GRCh38:
Chr7:33605208
BBS9Bardet-Biedl syndromeConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
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