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Items: 1 to 100 of 142

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:93297-135378918
ACADSB, ACTA2, ADAM8, ADARB2, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, ATP5C1, BMI1, BMPR1A, BNIP3, CACNB2, CALML3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, AKR1C4, CHUK, ABCC2, COL13A1, COL17A1, KLF6, MAP3K8, COX15, CPN1, CREM, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, AKR1C1, AKR1C2, DMBT1, DNA2, TRDMT1, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GAD2, GATA3, GDF2, GDF10, GDI2, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IDI1, IFIT2, IFIT1, IFIT3, IL2RA, IL15RA, INPP5A, ITGB1, ITIH2, KCNMA1, KIF5B, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PFKFB3, PFKP, PGAM1, PHYH, PIP4K2A, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKCQ, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, RSU1, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, SVIL, TACR2, TAF5, TCF7L2, ZEB1, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, VIM, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33A, ZNF33B, ZNF37A, STAM, MLLT10, CUBN, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, FZD8, UTF1, CUL2, PARG, NDST2, LIPF, ITGA8, PRPF18, AKR1C3, EIF3A, GBF1, NRP1, LDB1, CDC123, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, HACD1, LGI1, NOLC1, DLG5, PTER, NMT2, GSTO1, CHST3, BAG3, VPS26A, MINPP1, SPAG6, KIF20B, SEC24C, SH3PXD2A, FAM53B, USP6NL, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, ABI1, FRAT1, PPIF, ACTR1A, OPTN, NET1, SMNDC1, NPM3, MICU1, NEBL, PITRM1, GLRX3, RPP30, RPP38, DPYSL4, TACC2, SORBS1, ERLIN1, CELF2, LBX1, NRG3, MGEA5, YME1L1, ZMYND11, TUBGCP2, PRDX3, ADIRF, VAX1, C10orf10, ATE1, POLR3A, ZWINT, LDB3, NUDT5, SEC23IP, ECD, RAB11FIP2, CPEB3, ANKRD26, INPP5F, WDR37, ZNF365, MSRB2, SEPHS1, RAB18, DKK1, KIN, NT5C2, DIP2C, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, FAM175B, LARP4B, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, COMMD3, KAT6B, TSPAN15, GTPBP4, PDSS1, IFIT5, BAMBI, DPCD, SEC31B, NUDT13, UPF2, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIF1BP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, HSPA14, PLCE1, DUSP13, WAC, CHST15, SUFU, ACSL5, CALML5, PANK1, FXYD4, MYO3A, CCSER2, APBB1IP, ANKRD16, EXOC6, FAM35A, DDIT4, CCNJ, MARCH5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, FAM208B, CCDC186, CRTAC1, ARMC4, MTPAP, CEP55, SEC61A2, LRRC20, CWF19L1, OLAH, SLC29A3, RNLS, PI4K2A, MCM10, CSGALNACT2, H2AFY2, DHTKD1, HIF1AN, RUFY2, FRMD4A, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, KIAA1217, PARD3, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, PRTFDC1, ENTPD7, CAMK1D, ZMIZ1, ZNF248, AS3MT, GPR158, STAMBPL1, ARHGAP21, KIAA1462, GPAM, SHTN1, FAM160B1, WDFY4, SFMBT2, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, DNAJC1, NOC3L, IKZF5, DCLRE1C, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, C10orf76, SUV39H2, CCDC7, ECHDC3, ASB13, HPS6, MMRN2, MFSD13A, TUBAL3, MCMBP, THNSL1, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, MINDY3, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, EPC1, TNKS2, ITIH5, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, AKR1E2, FAM107B, CCDC3, MARVELD1, SYT15, TAF3, RASSF4, C10orf11, PCGF6, ARID5B, LOXL4, ZDHHC16, FAM213A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, LYZL1, AFAP1L2, PLA2G12B, MYPN, PYROXD2, USMG5, ZNF503, AIFM2, ADO, FBXO18, ATAD1, PLXDC2, MASTL, ARHGAP19, RBM17, KNDC1, ITPRIP, MCU, ANKRD30A, ACBD5, IDI2, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, ARHGAP12, OPN4, HOGA1, UCN3, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, LYZL2, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, MPP7, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, C10orf128, FUT11, OIT3, C10orf91, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, C10orf107, TMEM26, ZCCHC24, ENKUR, ARMC3, UNC5B, STOX1, C10orf35, TYSND1, ZNF25, GJD4, CCNY, RTKN2, TBATA, ATOH7, OTUD1, ZNF438, SLC16A9, FAM13C, MARCH8, C10orf25, ZNF485, RASGEF1A, REEP3, JMJD1C, UCMA, C10orf111, FAM171A1, SLC39A12, NSUN6, ARL5B, BEND7, IPMK, WASHC2C, EBF3, PROSER2, CALHM1, CASC2, PTF1A, TCERG1L, C10orf67, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, MKX, C10orf126, FAM149B1, FFAR4, KCNK18, ST8SIA6, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, EBLN1, TUBB8, LRRTM3, PTCHD3, NHLRC2, CCDC172, C10orf113, SKIDA1, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, C1QL3, NKX1-2, CASC10, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, FAM45A, MIR107, ACBD7, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, CDNF, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, FAM196A, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, MEIG1, ANXA8, AGAP7P, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, CALML3-AS1, FAM25G, ADIRF-AS1, KLLN, PRINS, TIMM23, MTRNR2L7, MIR1915, FAS-AS1, MTRNR2L5, COMMD3-BMI1, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520
See casesPathogenicno assertion criteria provided
2.
GRCh37:
Chr10:79753001
GRCh38:
Chr10:77993243
POLR3Anot providedLikely pathogenic
(Dec 15, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr10:79785861
GRCh38:
Chr10:78026103
POLR3Anot providedLikely pathogenic
(Dec 15, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr10:79769647
GRCh38:
Chr10:78009889
POLR3Anot providedGMAF:0.00740(T)Likely benign
(Sep 1, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr10:79767604
GRCh38:
Chr10:78007846
POLR3Anot providedGO-ESP:0.00002(T)Likely pathogenic
(Jun 8, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr10:79789200
GRCh38:
Chr10:78029442
RPS24, POLR3ADiamond-Blackfan anemiaGMAF:0.00060(C)
GO-ESP:0.00128(C)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr10:79793652
GRCh38:
Chr10:78033894
RPS24, POLR3ADiamond-Blackfan anemia, Pol III-related leukodystrophyGMAF:0.00680(G)
GO-ESP:0.00263(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:79793551
GRCh38:
Chr10:78033793
RPS24, POLR3ADiamond-Blackfan anemia, Pol III-related leukodystrophyGMAF:0.11380(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:79789268
GRCh38:
Chr10:78029510
RPS24, POLR3ADiamond-Blackfan anemia, Pol III-related leukodystrophyGMAF:0.00140(T)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr10:79785876
GRCh38:
Chr10:78026118
POLR3APol III-related leukodystrophyGO-ESP:0.00012(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr10:79785869
GRCh38:
Chr10:78026111
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr10:79785458
GRCh38:
Chr10:78025700
POLR3APol III-related leukodystrophyGMAF:0.03530(G)
GO-ESP:0.01041(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:79785367
GRCh38:
Chr10:78025609
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr10:79784738
GRCh38:
Chr10:78024980
POLR3APol III-related leukodystrophyGO-ESP:0.00015(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr10:79784331
GRCh38:
Chr10:78024573
POLR3APol III-related leukodystrophyGMAF:0.00520(T)
GO-ESP:0.00601(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr10:79782087
GRCh38:
Chr10:78022329
POLR3APol III-related leukodystrophyGO-ESP:0.00003(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr10:79782062
GRCh38:
Chr10:78022304
POLR3APol III-related leukodystrophyGO-ESP:0.00007(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr10:79782047
GRCh38:
Chr10:78022289
POLR3APol III-related leukodystrophyGMAF:0.00260(T)
GO-ESP:0.00438(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr10:79781912
GRCh38:
Chr10:78022154
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr10:79781625
GRCh38:
Chr10:78021867
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr10:79777395
GRCh38:
Chr10:78017637
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr10:79773560
GRCh38:
Chr10:78013802
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr10:79773414
GRCh38:
Chr10:78013656
POLR3APol III-related leukodystrophyGMAF:0.01020(A)
GO-ESP:0.00349(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr10:79770220
GRCh38:
Chr10:78010462
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr10:79769743
GRCh38:
Chr10:78009985
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr10:79769709
GRCh38:
Chr10:78009951
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr10:79769668
GRCh38:
Chr10:78009910
POLR3APol III-related leukodystrophyGMAF:0.01480(A)
GO-ESP:0.00485(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr10:79769439
GRCh38:
Chr10:78009681
POLR3APol III-related leukodystrophyGMAF:0.00520(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr10:79769438
GRCh38:
Chr10:78009680
POLR3APol III-related leukodystrophyGMAF:0.00260(-)
GO-ESP:0.00096(-)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr10:79769437
GRCh38:
Chr10:78009679
POLR3APol III-related leukodystrophyGMAF:0.00100(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr10:79769423
GRCh38:
Chr10:78009665
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr10:79769303
GRCh38:
Chr10:78009545
POLR3APol III-related leukodystrophyGO-ESP:0.00004(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr10:79767503
GRCh38:
Chr10:78007745
POLR3APol III-related leukodystrophyGMAF:0.00100(C)
GO-ESP:0.00067(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr10:79767451
GRCh38:
Chr10:78007693
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr10:79764621
GRCh38:
Chr10:78004863
POLR3APol III-related leukodystrophyGMAF:0.03550(A)
GO-ESP:0.01045(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr10:79762028
GRCh38:
Chr10:78002270
POLR3APol III-related leukodystrophyGMAF:0.10800(A)
GO-ESP:0.08287(A)
Benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr10:79760818
GRCh38:
Chr10:78001060
POLR3APol III-related leukodystrophyGMAF:0.10800(G)
GO-ESP:0.05899(G)
Benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr10:79760779
GRCh38:
Chr10:78001021
POLR3APol III-related leukodystrophyGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr10:79760740
GRCh38:
Chr10:78000982
POLR3APol III-related leukodystrophyGO-ESP:0.00212(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr10:79759775
GRCh38:
Chr10:78000017
POLR3APol III-related leukodystrophyGMAF:0.00480(A)
GO-ESP:0.00075(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr10:79759751
GRCh38:
Chr10:77999993
POLR3APol III-related leukodystrophyGMAF:0.00200(T)
GO-ESP:0.00162(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr10:79753131
GRCh38:
Chr10:77993373
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr10:79750815
GRCh38:
Chr10:77991057
POLR3APol III-related leukodystrophyGMAF:0.00060(T)
GO-ESP:0.00041(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr10:79745843
GRCh38:
Chr10:77986085
POLR3APol III-related leukodystrophyGO-ESP:0.00028(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr10:79745735
GRCh38:
Chr10:77985977
POLR3APol III-related leukodystrophyGMAF:0.06090(A)
GO-ESP:0.01756(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr10:79745696
GRCh38:
Chr10:77985938
POLR3APol III-related leukodystrophyGMAF:0.00220(C)
GO-ESP:0.00075(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr10:79744920
GRCh38:
Chr10:77985162
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr10:79744020
GRCh38:
Chr10:77984262
POLR3APol III-related leukodystrophyGMAF:0.01000(A)
GO-ESP:0.00195(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr10:79744019
GRCh38:
Chr10:77984261
POLR3APol III-related leukodystrophyGMAF:0.00080(T)
GO-ESP:0.00027(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr10:79743963
GRCh38:
Chr10:77984205
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr10:79743756
GRCh38:
Chr10:77983998
POLR3APol III-related leukodystrophyGMAF:0.01180(T)
GO-ESP:0.00762(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr10:79742400
GRCh38:
Chr10:77982642
POLR3APol III-related leukodystrophyGMAF:0.07610(G)
GO-ESP:0.02154(G)
Benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr10:79742396
GRCh38:
Chr10:77982638
POLR3APol III-related leukodystrophyGMAF:0.00660(T)
GO-ESP:0.00240(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr10:79742026
GRCh38:
Chr10:77982268
POLR3APol III-related leukodystrophyGMAF:0.00500(A)
GO-ESP:0.00174(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr10:79742011
GRCh38:
Chr10:77982253
POLR3APol III-related leukodystrophyGMAF:0.00100(T)
GO-ESP:0.00346(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr10:79741974
GRCh38:
Chr10:77982216
POLR3APol III-related leukodystrophyGMAF:0.00020(T)
GO-ESP:0.00015(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr10:79741937
GRCh38:
Chr10:77982179
POLR3APol III-related leukodystrophyGMAF:0.00100(T)
GO-ESP:0.00178(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr10:79741231
GRCh38:
Chr10:77981473
POLR3APol III-related leukodystrophyGMAF:0.00560(A)
GO-ESP:0.00127(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr10:79741219
GRCh38:
Chr10:77981461
POLR3APol III-related leukodystrophyGO-ESP:0.00006(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr10:79739933
GRCh38:
Chr10:77980175
POLR3APol III-related leukodystrophyGMAF:0.00040(A)
GO-ESP:0.00010(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr10:79739921
GRCh38:
Chr10:77980163
POLR3APol III-related leukodystrophyGO-ESP:0.00007(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr10:79739888
GRCh38:
Chr10:77980130
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr10:79737146
GRCh38:
Chr10:77977388
POLR3APol III-related leukodystrophyGMAF:0.00260(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr10:79737101
GRCh38:
Chr10:77977343
POLR3APol III-related leukodystrophyGMAF:0.00120(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr10:79737100
GRCh38:
Chr10:77977342
POLR3APol III-related leukodystrophyGMAF:0.00120(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr10:79736964
GRCh38:
Chr10:77977206
POLR3APol III-related leukodystrophyGMAF:0.33430(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr10:79736964
GRCh38:
Chr10:77977206
POLR3APol III-related leukodystrophyGMAF:0.33430(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr10:79736891
GRCh38:
Chr10:77977133
POLR3APol III-related leukodystrophyGMAF:0.00460(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr10:79736810
GRCh38:
Chr10:77977052
POLR3APol III-related leukodystrophyGMAF:0.03490(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr10:79736767
GRCh38:
Chr10:77977009
POLR3APol III-related leukodystrophyGMAF:0.00020(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr10:79736766
GRCh38:
Chr10:77977008
POLR3APol III-related leukodystrophyGMAF:0.00240(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr10:79736616
GRCh38:
Chr10:77976858
POLR3APol III-related leukodystrophyGMAF:0.00040(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr10:79736563
GRCh38:
Chr10:77976805
POLR3APol III-related leukodystrophyGMAF:0.00440(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr10:79736546
GRCh38:
Chr10:77976788
POLR3APol III-related leukodystrophyGMAF:0.03530(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr10:79736423
GRCh38:
Chr10:77976665
POLR3APol III-related leukodystrophyGMAF:0.00080(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr10:79736353
GRCh38:
Chr10:77976595
POLR3APol III-related leukodystrophyGMAF:0.00440(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr10:79736316
GRCh38:
Chr10:77976558
POLR3APol III-related leukodystrophyGMAF:0.00240(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr10:79736300
GRCh38:
Chr10:77976542
POLR3APol III-related leukodystrophyGMAF:0.00100(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr10:79736247
GRCh38:
Chr10:77976489
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr10:79736221
GRCh38:
Chr10:77976463
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr10:79736136
GRCh38:
Chr10:77976378
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr10:79736077
GRCh38:
Chr10:77976319
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr10:79736029
GRCh38:
Chr10:77976271
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr10:79736017
GRCh38:
Chr10:77976259
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr10:79735933
GRCh38:
Chr10:77976175
POLR3APol III-related leukodystrophyGMAF:0.00380(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr10:79735913
GRCh38:
Chr10:77976155
POLR3APol III-related leukodystrophyGMAF:0.27460(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr10:79735894
GRCh38:
Chr10:77976136
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr10:79735788
GRCh38:
Chr10:77976030
POLR3APol III-related leukodystrophyGMAF:0.03950(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr10:79735775
GRCh38:
Chr10:77976017
POLR3APol III-related leukodystrophyGMAF:0.27460(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr10:79735667
GRCh38:
Chr10:77975909
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr10:79735647
GRCh38:
Chr10:77975889
POLR3APol III-related leukodystrophyGMAF:0.03040(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr10:79735596
GRCh38:
Chr10:77975838
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr10:79735556
GRCh38:
Chr10:77975798
POLR3APol III-related leukodystrophyGMAF:0.03510(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr10:79735541
GRCh38:
Chr10:77975783
POLR3APol III-related leukodystrophyGMAF:0.01360(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr10:79735518
GRCh38:
Chr10:77975760
POLR3APol III-related leukodystrophyGMAF:0.00440(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:79735473
GRCh38:
Chr10:77975715
POLR3APol III-related leukodystrophyGMAF:0.16750(T)Benign
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr10:79735456-79735465
GRCh38:
Chr10:77975698-77975707
POLR3APol III-related leukodystrophyGMAF:0.00100(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr10:79735454
GRCh38:
Chr10:77975696
POLR3APol III-related leukodystrophyGMAF:0.02640(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr10:79735411
GRCh38:
Chr10:77975653
POLR3APol III-related leukodystrophyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr10:79735383
GRCh38:
Chr10:77975625
POLR3APol III-related leukodystrophyGMAF:0.01160(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
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