S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 87

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:18120775
GRCh38:
Chr6:18120544
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr6:18120775
GRCh38:
Chr6:18120544
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr6:18120813
GRCh38:
Chr6:18120582
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr6:18120853
GRCh38:
Chr6:18120622
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr6:18120930
GRCh38:
Chr6:18120699
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr6:18120988
GRCh38:
Chr6:18120757
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr6:18121024
GRCh38:
Chr6:18120793
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr6:18121029
GRCh38:
Chr6:18120798
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr6:18121168
GRCh38:
Chr6:18120937
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr6:18121208
GRCh38:
Chr6:18120977
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr6:18121244
GRCh38:
Chr6:18121013
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:18121289-18121292
GRCh38:
Chr6:18121058-18121061
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr6:18121306
GRCh38:
Chr6:18121075
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr6:18121314
GRCh38:
Chr6:18121083
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr6:18121318
GRCh38:
Chr6:18121087
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr6:18121324
GRCh38:
Chr6:18121093
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr6:18121330
GRCh38:
Chr6:18121099
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr6:18121374
GRCh38:
Chr6:18121143
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr6:18121402
GRCh38:
Chr6:18121171
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr6:18121402
GRCh38:
Chr6:18121171
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr6:18121413
GRCh38:
Chr6:18121182
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr6:18121565
GRCh38:
Chr6:18121334
NHLRC1Lafora diseaseLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr6:18121589
GRCh38:
Chr6:18121358
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr6:18121595
GRCh38:
Chr6:18121364
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr6:18121696
GRCh38:
Chr6:18121465
NHLRC1not providedLikely pathogenic
(Dec 11, 2012)
criteria provided, single submitter
26.
GRCh37:
Chr6:18121747
GRCh38:
Chr6:18121516
NHLRC1not specifiedLikely benign
(Jan 31, 2013)
criteria provided, single submitter
27.
GRCh37:
Chr6:18121748
GRCh38:
Chr6:18121517
NHLRC1Lafora disease, not specifiedUncertain significance
(Dec 19, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:18121762
GRCh38:
Chr6:18121531
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr6:18121766
GRCh38:
Chr6:18121535
NHLRC1not specifiedLikely benign
(May 13, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr6:18121846
GRCh38:
Chr6:18121615
NHLRC1Epilepsy, progressive myoclonic 2bPathogenic
(Oct 1, 2003)
no assertion criteria provided
31.
GRCh37:
Chr6:18121848
GRCh38:
Chr6:18121617
NHLRC1Lafora diseaseLikely benign
(Nov 7, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr6:18121865
GRCh38:
Chr6:18121634
NHLRC1not providedUncertain significance
(Jan 15, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr6:18121869
GRCh38:
Chr6:18121638
NHLRC1not specifiedBenign
(Jan 7, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr6:18121915
GRCh38:
Chr6:18121684
NHLRC1Epilepsy, progressive myoclonic 2bPathogenic
(Mar 22, 2005)
no assertion criteria provided
35.
GRCh37:
Chr6:18122033
GRCh38:
Chr6:18121802
NHLRC1not specifiedUncertain significance
(Sep 18, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr6:18122045
GRCh38:
Chr6:18121814
NHLRC1Epilepsy, progressive myoclonic 2bPathogenic
(Mar 22, 2005)
no assertion criteria provided
37.
GRCh37:
Chr6:18122047
GRCh38:
Chr6:18121816
NHLRC1not specifiedUncertain significance
(Apr 23, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr6:18122059
GRCh38:
Chr6:18121828
NHLRC1not specifiedUncertain significance
(Nov 21, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr6:18122098
GRCh38:
Chr6:18121867
NHLRC1not specifiedUncertain significance
(Jul 19, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr6:18122130
GRCh38:
Chr6:18121899
NHLRC1not providedLikely pathogenic
(May 10, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr6:18122147
GRCh38:
Chr6:18121916
NHLRC1Lafora diseaseUncertain significance
(Apr 30, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr6:18122157
GRCh38:
Chr6:18121926
NHLRC1Lafora disease, not specifiedUncertain significance
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr6:18122174
GRCh38:
Chr6:18121943
NHLRC1Lafora diseasePathogenic
(Feb 6, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr6:18122245
GRCh38:
Chr6:18122014
NHLRC1Lafora disease, Epilepsy, progressive myoclonic 2bPathogenic
(Jan 22, 2015)
no assertion criteria provided
45.
GRCh37:
Chr6:18122287
GRCh38:
Chr6:18122056
NHLRC1not specifiedUncertain significance
(Mar 11, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr6:18122297
GRCh38:
Chr6:18122066
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr6:18122325
GRCh38:
Chr6:18122094
NHLRC1not specifiedBenign
(Oct 14, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr6:18122360
GRCh38:
Chr6:18122129
NHLRC1not specifiedUncertain significance
(Jan 3, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr6:18122369-18122370
GRCh38:
Chr6:18122138-18122139
NHLRC1Lafora disease, Epilepsy, progressive myoclonic 2b, not provided
Pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr6:18122370
GRCh38:
Chr6:18122139
NHLRC1not providedPathogenic
(Mar 28, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr6:18122371
GRCh38:
Chr6:18122140
NHLRC1not specifiedUncertain significance
(Jan 12, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr6:18122402
GRCh38:
Chr6:18122171
NHLRC1Lafora disease, not providedPathogenic
(Jan 22, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr6:18122416
GRCh38:
Chr6:18122185
NHLRC1not specifiedUncertain significance
(Nov 16, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr6:18122420
GRCh38:
Chr6:18122189
NHLRC1Lafora diseaseUncertain significance
(Dec 29, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr6:18122441
GRCh38:
Chr6:18122210
NHLRC1Lafora diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr6:18122452
GRCh38:
Chr6:18122221
NHLRC1not providedPathogenic
(Jan 2, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr6:18122464
GRCh38:
Chr6:18122233
NHLRC1not specifiedUncertain significance
(Mar 24, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr6:18122506
GRCh38:
Chr6:18122275
NHLRC1Lafora disease, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:18122519
GRCh38:
Chr6:18122288
NHLRC1not specifiedUncertain significance
(Dec 22, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr6:18122526
GRCh38:
Chr6:18122295
NHLRC1Lafora disease, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:18122535
GRCh38:
Chr6:18122304
NHLRC1Lafora disease, not specifiedConflicting interpretations of pathogenicity
(Dec 12, 2016)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr6:18122553
GRCh38:
Chr6:18122322
NHLRC1not specifiedLikely benign
(Mar 2, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr6:18122612
GRCh38:
Chr6:18122381
NHLRC1not providedPathogenic
(Oct 31, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr6:18122633
GRCh38:
Chr6:18122402
NHLRC1Lafora disease, Epilepsy, progressive myoclonic 2b, not provided
Pathogenic
(Dec 5, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr6:18122653
GRCh38:
Chr6:18122422
NHLRC1not specifiedUncertain significance
(Apr 29, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr6:18122685
GRCh38:
Chr6:18122454
NHLRC1not specifiedUncertain significance
(Mar 31, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr6:18122735
GRCh38:
Chr6:18122504
NHLRC1not specifiedUncertain significance
(Aug 6, 2013)
criteria provided, single submitter
68.
GRCh37:
Chr6:18122762
GRCh38:
Chr6:18122531
NHLRC1Lafora disease, Epilepsy, progressive myoclonic 2b, not provided
Pathogenic
(Mar 15, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr6:18122780
GRCh38:
Chr6:18122549
NHLRC1not specifiedUncertain significance
(Sep 9, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr6:18122786
GRCh38:
Chr6:18122555
NHLRC1not specifiedUncertain significance
(May 26, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr6:18122792
GRCh38:
Chr6:18122561
NHLRC1Lafora disease, not specifiedUncertain significance
(Nov 17, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr6:18122806
GRCh38:
Chr6:18122575
NHLRC1Lafora disease, not specifiedConflicting interpretations of pathogenicity
(Sep 20, 2016)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr6:18122811
GRCh38:
Chr6:18122580
NHLRC1Lafora diseaseLikely benign
(Nov 1, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr6:18122833-18122834
GRCh38:
Chr6:18122602-18122603
NHLRC1not specifiedUncertain significance
(Jul 9, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr6:18122842
GRCh38:
Chr6:18122611
NHLRC1not specifiedBenign
(Sep 17, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr6:18122872
GRCh38:
Chr6:18122641
NHLRC1not specifiedBenign
(Dec 18, 2014)
criteria provided, single submitter
77.
GRCh37:
Chr6:18122873
GRCh38:
Chr6:18122642
NHLRC1not specifiedBenign
(Oct 15, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr6:18045019-18219920
TPMT, KDM1B, NHLRC1See casesUncertain significanceno assertion criteria provided
79.
GRCh37:
Chr6:302272-18375047
See casesPathogenicno assertion criteria provided
80.
GRCh37:
Chr6:17637157-18931615
TPMT, DEK, NUP153, KIF13A, KDM1B, RNF144B, NHLRC1See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr6:168775-24023234
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr6:156974-46757028
GRCh38:
Chr6:156974-46789291
ABCF1, AGER, AIF1, ATP6V1G2, BAK1, CFB, BMP6, BPHL, BTN1A1, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCND3, CDC5L, CDKN1A, CDSN, CLIC1, CLPS, COL11A2, ATF6B, MAPK14, CSNK2B, CYP21A2, DAXX, DNAH8, DXO, DSP, E2F3, EDN1, SERPINB1, SLC29A1, F13A1, FANCE, FKBP5, FOXF2, FOXC1, GABBR1, GCNT2, GLO1, GLP1R, GMDS, GMPR, GNL1, GPLD1, GPX5, GRM4, GTF2H4, GUCA1A, GUCA1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HFE, HIVEP1, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, ID4, IRF4, ITPR3, JARID2, KIFC1, LTA, LTB, MAK, MDFI, MEA1, MICB, MLN, MOCS1, MOG, MSH5, RPL10A, NEDD9, NEU1, NFKBIE, NFKBIL1, NFYA, NQO2, NOTCH4, PBX2, PEX6, PGC, PHF1, SERPINB6, SERPINB9, PIM1, POLH, POU5F1, PPARD, PPP1R10, PPP2R5D, MAPK13, PRL, PSMB8, PSMB9, PTK7, RGL2, PRPH2, TRIM27, RING1, BRD2, RNF5, RPS10, RPS18, RREB1, RXRB, VPS52, ATXN1, SRSF3, SKIV2L, SLC17A1, SNRPC, SOX4, SRF, SRPK1, SSR1, TAF11, TAP1, TAP2, TAPBP, TBCC, TCF19, TCP11, PPP1R11, TEAD3, TFAP2A, TNF, TNXB, TRA-TGC7-1, TPMT, TRI-AAT9-1, TRX-CAT1-2, TRX-CAT2-1, TRR-ACG1-2, TRR-TCG4-1, TUBB2A, TULP1, VARS, VEGFA, ZNF76, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, ZNF204P, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, CMAHP, DHX16, SUPT3H, KCNK5, B3GALT4, RIPK1, SYNGAP1, STK19, IER3, PRPF4B, HIST1H3F, HIST1H2AG, HIST1H2BJ, RNF8, GCM2, WDR46, ZBTB22, CD83, PPT2, CDYL, NCR2, LY86, MED20, SLC25A27, EEF1E1, POLR1C, MAD2L1BP, MDC1, RIPOR2, ZSCAN12, CUL7, KIAA0319, NUP153, RANBP9, SLC17A4, TRIM10, FLOT1, RCAN2, SLC17A2, HCG9, PRSS16, BTN3A3, BTN2A2, ECI2, PFDN6, HMGN4, TRIM38, CAP2, UBD, AGPAT1, SCGN, DNPH1, C6orf10, FARS2, CNPY3, SLC17A3, RPP40, FRS3, SLC22A7, HCP5, EHMT2, APOBEC2, TRIM31, BTN3A2, BTN3A1, BTN2A1, CAPN11, NUDT3, NRM, STK38, ENPP4, CMTR1, CUL9, ANKS1A, UBR2, SIRT5, TRS-AGA2-3, DAAM2, BICRAL, TRS-TGA4-1, DDAH2, MTCH1, ZNF318, SPDEF, YIPF3, USP49, OR2B6, FAM50B, OR12D2, OR12D1, OR11A1, OR2W1, OR2J2, OR2H1, SNORD52, SNORD48, BRPF3, GNMT, MRPS18B, C6orf15, MYLIP, ABT1, PRICKLE4, PACSIN1, ZNRD1, DEF6, C6orf48, SLC35B3, GMNN, MRPL2, TBC1D7, NRN1, CYP39A1, NOL7, FAM8A1, DCDC2, ETV7, TMEM14C, TDP2, CUTA, PPIL1, CLIC5, TREM2, TREM1, HCG4, GFOD1, CCHCR1, GTPBP2, BTN2A3P, UHRF1BP1, ELOVL2, CDKAL1, PAK1IP1, MRPS18A, MRPS10, TMEM63B, CARMIL1, TBC1D22B, EXOC2, SAYSD1, TRERF1, ACOT13, APOM, BTNL2, TRIM39, WRNIP1, DUSP22, LYRM4, VARS2, MRS2, LRFN2, AARS2, XPO5, CPNE5, LSM2, C6orf47, LY6G5B, LY6G6D, ENPP5, ZFAND3, SLC22A23, BLOC1S5, MCUR1, GPSM3, FKBPL, KIF13A, ZSCAN31, C6orf106, MRPL14, DLK2, LY6G6E, ZNF322, TREML2, RPP21, ATAT1, ZKSCAN3, ZSCAN16, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, ZNRD1ASP, PRRT1, EGFL8, HCG4B, TXNDC5, C6orf62, OR5V1, OR2B2, OR12D3, TMEM14B, RIOK1, KCNK16, DTNBP1, UQCC2, PGBD1, TTBK1, ADTRP, HIST1H2AH, HIST1H2BK, RRP36, KCNK17, ABCC10, TRIM15, KLC4, TJAP1, TRS-TGA2-1, POM121L2, FOXQ1, BTBD9, ZBED9, FOXP4, KLHDC3, SLC26A8, MAS1L, IP6K3, TAF8, HUS1B, TRIM40, DPCR1, NRSN1, SNRNP48, MBOAT1, HDGFL1, LINC01600, CCDC167, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, TRIM39-RPP21, TUBB, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, C6orf1, LEMD2, ZBTB9, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, LINC00518, PXDC1, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, ZSCAN23, NKAPL, FAM217A, HCG27, RNF144B, HIST1H2BA, GPX6, NCR3, LY6G6F, OFCC1, MDGA1, ZNF311, LOC285766, LINC01622, LY86-AS1, CAGE1, LOC285819, HLA-F-AS1, HCG22, LOC285847, PNPLA1, TREML4, RPL7L1, MYLK4, CLPSL1, TREML1, TREML3P, ZNF391, ZFP57, TUBB2B, SLC35B2, C6orf52, HCG26, KAAG1, NHLRC1, ZKSCAN4, LINC00533, PSMG4, SFTA2, CLPSL2, C6orf222, MUC21, LINC01011, STMND1, CASC15, LINC01623, LINC00243, MCCD1, SAPCD1, LINC00336, RAB44, LINC00951, LOC401261, CRIP3, C6orf201, ERVFRD-1, MIR219A1, HCG14, HCG15, HCG23, HCG25, HCG16, HCG24, HCG18, HCG17, C6orf226, TMEM151B, OR2B3, OR2J1, OR2J3, OR14J1, OR10C1, GGNBP1, HCG11, KU-MEL-3, LOC554223, GCNT6, C6orf132, PPP1R3G, SNORA38, SNORD32B, SNORD84, SNORD117, MIR548A1, MIR586, HULC, NBAT1, LINC01556, TDRG1, TRS-AGA3-1, TRV-AAC1-5, TRV-AAC3-1, TRA-AGC11-1, TMEM170B, SCARNA27, MIR877, ZSCAN16-AS1, LYRM4-AS1, LOC100129636, TFAP2A-AS1, LOC100130357, PSORS1C3, LOC100131047, LOC100131289, LINC01512, LINC00240, TOMM6, TRH-GTG1-5, TRS-GCT2-1, TRR-TCT5-1, TRV-AAC5-1, TRE-CTC1-6, TRI-TAT2-2, TRA-CGC4-1, TRR-TCG5-1, TRT-CGT1-1, TRL-CAA3-1, TRX-CAT1-4, TRS-CGA2-1, TRA-AGC6-1, TRA-AGC4-1, TRA-AGC5-1, TRW-CCA3-2, TRK-TTT4-1, TRA-TGC5-1, TRL-TAA4-1, TRS-AGA4-1, TRI-AAT2-1, TRQ-TTG3-3, TRS-AGA2-2, TRA-TGC6-1, TRR-CCG1-2, TRA-AGC7-1, TRA-AGC2-1, TRX-CAT1-3, TRI-AAT8-1, TRR-ACG2-3, TRV-CAC7-1, TRK-CTT2-4, TRM-CAT3-2, TRA-TGC2-1, TRL-AAG4-1, TRQ-CTG1-3, TRA-AGC10-1, TRI-TAT2-3, TRF-GAA1-1, TRQ-TTG2-1, TRT-AGT6-1, TRF-GAA5-1, TRA-TGC1-1, TRI-AAT5-1, TRS-GCT1-1, TRD-GTC2-6, TRS-GCT5-1, TRV-AAC4-1, TRY-GTA3-1, TRL-TAA2-1, TRR-ACG2-2, TRL-AAG3-1, TRF-GAA3-1, TRP-CGG2-1, TRV-AAC6-1, TRK-TTT6-1, TRQ-TTG3-2, TRQ-CTG1-2, TRV-CAC9-1, TRD-GTC3-1, TRL-AAG2-2, TRS-CGA3-1, TRI-AAT3-1, TRQ-CTG6-1, TRM-CAT3-1, TRS-GCT6-1, TRY-GTA6-1, TRP-AGG2-2, TRS-GCT4-1, TRV-CAC1-6, TRK-TTT3-3, TRL-CAA1-2, TRS-AGA2-4, TRF-GAA1-2, TRF-GAA6-1, TRQ-CTG2-1, TRY-GTA1-1, TRQ-CTG1-1, TRL-CAG1-7, TRD-GTC2-7, TRF-GAA4-1, TRA-AGC2-2, TRX-CAT1-6, TRA-AGC3-1, TRT-CGT5-1, TRL-CAA2-1, TRM-CAT5-1, TRA-CGC1-1, TRI-AAT5-3, TRG-GCC2-3, TRX-CAT1-7, TRT-AGT2-1, TRQ-TTG3-1, TRQ-CTG5-1, TRK-TTT7-1, TRI-AAT5-2, TRY-GTA8-1, TRT-AGT2-2, TRT-TGT1-1, TRX-CAT1-5, TRA-AGC1-1, TRI-TAT3-1, TRS-AGA1-1, TRM-CAT4-2, TRA-AGC14-1, TRT-CGT3-1, TRV-CAC2-1, TRR-CCG1-1, TRV-CAC6-1, TRI-AAT6-1, TRT-AGT4-1, TRS-AGA2-1, TRK-TTT9-1, TRM-CAT4-3, TRA-CGC5-1, TRR-ACG1-1, TRA-CGC2-1, TRI-AAT7-2, TRV-TAC4-1, TRR-TCG2-1, TRR-ACG2-4, TRS-TGA3-1, TRT-AGT3-1, TRW-CCA3-1, LOC100270746, ANKRD66, LOC100294145, MIR1275, MIR1236, MIR3143, MIR3934, MIR3925, MIR3691, LOC100505530, LOC100505635, LOC100506207, ELOVL2-AS1, JARID2-AS1, LOC100506885, LINC01012, LOC100507194, LINC01015, MICA, PSMB8-AS1, LOC100507506, LOC100507547, LINC01016, MUC22, GMDS-AS1, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5, RPS10-NUDT3, MSH5-SAPCD1, ATP6V1G2-DDX39B, PPT2-EGFL8, MIR4647, MIR4641, MIR3135B, MIR4646, MIR4640, MIR4639, MIR4645, MIR4642, MIR4462, MIR5689, MIR5004, MIR5683, MIR5690, LINC00581, FOXP4-AS1, PANDAR, LOC101926898, LOC101926915, LOC101926934, LOC101927691, FOXCUT, LOC101927730, LOC101927759, LOC101927950, LOC101927972, LOC101928191, LOC101928253, LOC101928433, LOC101928491, LOC101928519, C6orf229, LOC101928663, LOC101929006, LINC01149, LOC101929163, LOC101929188, LOC101929243, BTBD9-AS1, LOC101929555, LOC101929705, LOC101929726, C2-AS1, LINC01108, MIR6833, MIR6834, MIR6835, MIR6891, MIR7111, MIR6721, MIR6720, MIR6832, MIR6780B, MIR6873, MIR7159, MIR7853, HCG21, LOC102724096, LINC01276, SAPCD1-AS1, TRIM31-AS1, OFCC1, LOC105374952, LOC105374960, LOC105374972, LOC105374988, HCG20, LOC105375014, LOC105375075, LINC01394, MDC1-AS1, DDX39B-AS1, HLA-DQB1-AS1, MIR5689HG, TBC1D7-LOC100130357, CNPY3-GNMT
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
83.
GRCh37:
Chr6:14958991-18581139
GRCh38:
Chr6:14958760-18580908
See casesUncertain significance
(Dec 10, 2012)
no assertion criteria provided
84.
GRCh37:
Chr6:3224544-30624967
GRCh38:
Chr6:3224310-30657190
ABCF1, BMP6, BTN1A1, DSP, E2F3, EDN1, F13A1, GABBR1, GCNT2, GMPR, GNL1, GPLD1, GPX5, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HFE, HIVEP1, HLA-A, HLA-E, HLA-F, HLA-G, ID4, JARID2, MAK, MOG, NEDD9, PPP1R10, PRL, TRIM27, RREB1, ATXN1, SLC17A1, SOX4, SSR1, PPP1R11, TFAP2A, TRA-TGC7-1, TPMT, TRI-AAT9-1, TRX-CAT1-2, TRX-CAT2-1, TRR-ACG1-2, TRR-TCG4-1, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, ZNF204P, DEK, ALDH5A1, OR2H2, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, CMAHP, DHX16, PRPF4B, HIST1H3F, HIST1H2AG, HIST1H2BJ, GCM2, CD83, CDYL, LY86, EEF1E1, RIPOR2, ZSCAN12, KIAA0319, NUP153, RANBP9, SLC17A4, TRIM10, SLC17A2, HCG9, PRSS16, BTN3A3, BTN2A2, ECI2, HMGN4, TRIM38, CAP2, UBD, SCGN, FARS2, SLC17A3, RPP40, TRIM31, BTN3A2, BTN3A1, BTN2A1, SIRT5, TRS-AGA2-3, TRS-TGA4-1, OR2B6, FAM50B, OR12D2, OR12D1, OR11A1, OR2W1, OR2J2, OR2H1, MRPS18B, MYLIP, ABT1, ZNRD1, SLC35B3, GMNN, TBC1D7, NRN1, NOL7, FAM8A1, DCDC2, TMEM14C, TDP2, HCG4, GFOD1, BTN2A3P, ELOVL2, CDKAL1, PAK1IP1, CARMIL1, ACOT13, TRIM39, LYRM4, MRS2, SLC22A23, BLOC1S5, MCUR1, KIF13A, ZSCAN31, ZNF322, RPP21, ATAT1, ZKSCAN3, ZSCAN16, RNF39, PRR3, ZNRD1ASP, HCG4B, TXNDC5, C6orf62, OR5V1, OR2B2, OR12D3, TMEM14B, RIOK1, DTNBP1, PGBD1, ADTRP, HIST1H2AH, HIST1H2BK, TRIM15, TRS-TGA2-1, POM121L2, ZBED9, MAS1L, TRIM40, NRSN1, SNRNP48, MBOAT1, HDGFL1, TRIM39-RPP21, C6orf136, HIST1H2AA, KDM1B, RBM24, RNF182, PHACTR1, SMIM13, SYCP2L, LINC00518, PXDC1, ZSCAN23, NKAPL, FAM217A, RNF144B, HIST1H2BA, GPX6, OFCC1, ZNF311, LY86-AS1, CAGE1, LOC285819, HLA-F-AS1, ZNF391, ZFP57, TUBB2B, C6orf52, KAAG1, NHLRC1, ZKSCAN4, LINC00533, PSMG4, STMND1, CASC15, LINC01623, C6orf201, ERVFRD-1, HCG14, HCG15, HCG16, HCG18, HCG17, OR2B3, OR2J1, OR2J3, OR14J1, OR10C1, HCG11, KU-MEL-3, LOC554223, GCNT6, PPP1R3G, SNORD32B, MIR548A1, HULC, NBAT1, LINC01556, TRS-AGA3-1, TRV-AAC1-5, TRV-AAC3-1, TRA-AGC11-1, TMEM170B, SCARNA27, MIR877, ZSCAN16-AS1, LYRM4-AS1, LOC100129636, TFAP2A-AS1, LOC100130357, LOC100131289, LINC00240, TRH-GTG1-5, TRS-GCT2-1, TRR-TCT5-1, TRV-AAC5-1, TRE-CTC1-6, TRI-TAT2-2, TRA-CGC4-1, TRR-TCG5-1, TRT-CGT1-1, TRL-CAA3-1, TRX-CAT1-4, TRS-CGA2-1, TRA-AGC6-1, TRA-AGC4-1, TRA-AGC5-1, TRW-CCA3-2, TRK-TTT4-1, TRA-TGC5-1, TRL-TAA4-1, TRS-AGA4-1, TRI-AAT2-1, TRQ-TTG3-3, TRS-AGA2-2, TRA-TGC6-1, TRR-CCG1-2, TRA-AGC7-1, TRA-AGC2-1, TRX-CAT1-3, TRI-AAT8-1, TRR-ACG2-3, TRV-CAC7-1, TRK-CTT2-4, TRM-CAT3-2, TRA-TGC2-1, TRL-AAG4-1, TRQ-CTG1-3, TRA-AGC10-1, TRI-TAT2-3, TRF-GAA1-1, TRQ-TTG2-1, TRT-AGT6-1, TRF-GAA5-1, TRA-TGC1-1, TRI-AAT5-1, TRS-GCT1-1, TRD-GTC2-6, TRS-GCT5-1, TRV-AAC4-1, TRY-GTA3-1, TRL-TAA2-1, TRR-ACG2-2, TRL-AAG3-1, TRF-GAA3-1, TRP-CGG2-1, TRV-AAC6-1, TRK-TTT6-1, TRQ-TTG3-2, TRQ-CTG1-2, TRV-CAC9-1, TRD-GTC3-1, TRL-AAG2-2, TRS-CGA3-1, TRI-AAT3-1, TRQ-CTG6-1, TRM-CAT3-1, TRS-GCT6-1, TRY-GTA6-1, TRP-AGG2-2, TRS-GCT4-1, TRV-CAC1-6, TRK-TTT3-3, TRL-CAA1-2, TRS-AGA2-4, TRF-GAA1-2, TRF-GAA6-1, TRQ-CTG2-1, TRY-GTA1-1, TRQ-CTG1-1, TRL-CAG1-7, TRD-GTC2-7, TRF-GAA4-1, TRA-AGC2-2, TRX-CAT1-6, TRA-AGC3-1, TRT-CGT5-1, TRL-CAA2-1, TRM-CAT5-1, TRA-CGC1-1, TRI-AAT5-3, TRG-GCC2-3, TRX-CAT1-7, TRT-AGT2-1, TRQ-TTG3-1, TRQ-CTG5-1, TRK-TTT7-1, TRI-AAT5-2, TRY-GTA8-1, TRT-AGT2-2, TRT-TGT1-1, TRX-CAT1-5, TRA-AGC1-1, TRI-TAT3-1, TRS-AGA1-1, TRM-CAT4-2, TRA-AGC14-1, TRT-CGT3-1, TRV-CAC2-1, TRR-CCG1-1, TRV-CAC6-1, TRI-AAT6-1, TRT-AGT4-1, TRS-AGA2-1, TRK-TTT9-1, TRM-CAT4-3, TRA-CGC5-1, TRR-ACG1-1, TRA-CGC2-1, TRI-AAT7-2, TRV-TAC4-1, TRR-TCG2-1, TRR-ACG2-4, TRS-TGA3-1, TRT-AGT3-1, TRW-CCA3-1, LOC100270746, MIR3143, MIR3691, LOC100506207, ELOVL2-AS1, JARID2-AS1, LOC100506885, LINC01012, LINC01015, LOC100507506, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5, MIR4639, MIR5689, MIR5683, LINC00581, LOC101927950, LOC101927972, LOC101928191, LOC101928253, LOC101928433, LOC101928491, LOC101928519, C6orf229, LOC101928663, LOC101929006, LINC01108, MIR7853, LOC102724096, TRIM31-AS1, OFCC1, LOC105374952, LOC105374960, LOC105374972, LOC105374988, MIR5689HG, TBC1D7-LOC100130357
See casesPathogenic
(Jun 11, 2012)
no assertion criteria provided
85.
GRCh37:
Chr6:18120751-30735293
GRCh38:
Chr6:18120520-30767516
ABCF1, BTN1A1, E2F3, GABBR1, GNL1, GPLD1, GPX5, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H1T, HIST1H2AE, HIST1H2AD, HIST1H2BD, HIST1H2BB, HIST1H1A, HFE, HLA-A, HLA-E, HLA-F, HLA-G, ID4, MOG, PPP1R10, PRL, TRIM27, SLC17A1, SOX4, PPP1R11, TRA-TGC7-1, TPMT, TRI-AAT9-1, TRX-CAT1-2, TRX-CAT2-1, TRR-ACG1-2, TRR-TCG4-1, ZNF165, TRIM26, ZNF184, ZSCAN26, ZKSCAN8, ZSCAN9, ZNF204P, DEK, ALDH5A1, OR2H2, HIST1H4I, HIST1H2AI, HIST1H2AK, HIST1H2AJ, HIST1H2AL, HIST1H2AC, HIST1H2AB, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BF, HIST1H2BE, HIST1H2BH, HIST1H2BI, HIST1H2BC, HIST1H2BO, HIST1H3A, HIST1H3D, HIST1H3C, HIST1H3E, HIST1H3I, HIST1H3G, HIST1H3J, HIST1H3H, HIST1H3B, HIST1H4A, HIST1H4D, HIST1H4F, HIST1H4K, HIST1H4J, HIST1H4C, HIST1H4H, HIST1H4B, HIST1H4E, HIST1H4L, HIST1H4G, CMAHP, DHX16, IER3, HIST1H3F, HIST1H2AG, HIST1H2BJ, MDC1, RIPOR2, ZSCAN12, KIAA0319, SLC17A4, TRIM10, FLOT1, SLC17A2, HCG9, PRSS16, BTN3A3, BTN2A2, HMGN4, TRIM38, UBD, SCGN, SLC17A3, TRIM31, BTN3A2, BTN3A1, BTN2A1, NRM, TRS-AGA2-3, TRS-TGA4-1, OR2B6, OR12D2, OR12D1, OR11A1, OR2W1, OR2J2, OR2H1, MRPS18B, ABT1, ZNRD1, GMNN, DCDC2, TDP2, HCG4, BTN2A3P, CDKAL1, CARMIL1, ACOT13, TRIM39, MRS2, ZSCAN31, ZNF322, RPP21, ATAT1, ZKSCAN3, ZSCAN16, RNF39, PRR3, ZNRD1ASP, HCG4B, C6orf62, OR5V1, OR2B2, OR12D3, PGBD1, HIST1H2AH, HIST1H2BK, TRIM15, TRS-TGA2-1, POM121L2, ZBED9, MAS1L, TRIM40, NRSN1, MBOAT1, HDGFL1, PPP1R18, TRIM39-RPP21, TUBB, C6orf136, HIST1H2AA, KDM1B, ZSCAN23, NKAPL, RNF144B, HIST1H2BA, GPX6, ZNF311, LOC285819, HLA-F-AS1, ZNF391, ZFP57, KAAG1, NHLRC1, ZKSCAN4, LINC00533, CASC15, LINC01623, HCG14, HCG15, HCG16, HCG18, HCG17, OR2B3, OR2J1, OR2J3, OR14J1, OR10C1, HCG11, LOC554223, SNORD32B, MIR548A1, NBAT1, LINC01556, TRS-AGA3-1, TRV-AAC1-5, TRV-AAC3-1, TRA-AGC11-1, MIR877, ZSCAN16-AS1, LOC100129636, LOC100131289, LINC00240, TRH-GTG1-5, TRS-GCT2-1, TRR-TCT5-1, TRV-AAC5-1, TRE-CTC1-6, TRI-TAT2-2, TRA-CGC4-1, TRR-TCG5-1, TRT-CGT1-1, TRL-CAA3-1, TRX-CAT1-4, TRS-CGA2-1, TRA-AGC6-1, TRA-AGC4-1, TRA-AGC5-1, TRW-CCA3-2, TRK-TTT4-1, TRA-TGC5-1, TRL-TAA4-1, TRS-AGA4-1, TRI-AAT2-1, TRQ-TTG3-3, TRS-AGA2-2, TRA-TGC6-1, TRR-CCG1-2, TRA-AGC7-1, TRA-AGC2-1, TRX-CAT1-3, TRI-AAT8-1, TRR-ACG2-3, TRV-CAC7-1, TRK-CTT2-4, TRM-CAT3-2, TRA-TGC2-1, TRL-AAG4-1, TRQ-CTG1-3, TRA-AGC10-1, TRI-TAT2-3, TRF-GAA1-1, TRQ-TTG2-1, TRT-AGT6-1, TRF-GAA5-1, TRA-TGC1-1, TRI-AAT5-1, TRS-GCT1-1, TRD-GTC2-6, TRS-GCT5-1, TRV-AAC4-1, TRY-GTA3-1, TRL-TAA2-1, TRR-ACG2-2, TRL-AAG3-1, TRF-GAA3-1, TRP-CGG2-1, TRV-AAC6-1, TRK-TTT6-1, TRQ-TTG3-2, TRQ-CTG1-2, TRV-CAC9-1, TRD-GTC3-1, TRL-AAG2-2, TRS-CGA3-1, TRI-AAT3-1, TRQ-CTG6-1, TRM-CAT3-1, TRS-GCT6-1, TRY-GTA6-1, TRP-AGG2-2, TRS-GCT4-1, TRV-CAC1-6, TRK-TTT3-3, TRL-CAA1-2, TRS-AGA2-4, TRF-GAA1-2, TRF-GAA6-1, TRQ-CTG2-1, TRY-GTA1-1, TRQ-CTG1-1, TRL-CAG1-7, TRD-GTC2-7, TRF-GAA4-1, TRA-AGC2-2, TRX-CAT1-6, TRA-AGC3-1, TRT-CGT5-1, TRL-CAA2-1, TRM-CAT5-1, TRA-CGC1-1, TRI-AAT5-3, TRG-GCC2-3, TRX-CAT1-7, TRT-AGT2-1, TRQ-TTG3-1, TRQ-CTG5-1, TRK-TTT7-1, TRI-AAT5-2, TRY-GTA8-1, TRT-AGT2-2, TRT-TGT1-1, TRX-CAT1-5, TRA-AGC1-1, TRI-TAT3-1, TRS-AGA1-1, TRM-CAT4-2, TRA-AGC14-1, TRT-CGT3-1, TRV-CAC2-1, TRR-CCG1-1, TRV-CAC6-1, TRI-AAT6-1, TRT-AGT4-1, TRS-AGA2-1, TRK-TTT9-1, TRM-CAT4-3, TRA-CGC5-1, TRR-ACG1-1, TRA-CGC2-1, TRI-AAT7-2, TRV-TAC4-1, TRR-TCG2-1, TRR-ACG2-4, TRS-TGA3-1, TRT-AGT3-1, TRW-CCA3-1, LOC100270746, MIR3143, LOC100506885, LINC01012, LINC01015, LINC00581, LOC101928519, C6orf229, LOC101928663, LOC101929006, TRIM31-AS1, LOC105374960, LOC105374972, LOC105374988, HCG20, MDC1-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
86.
GRCh37:
Chr6:13093349-22126253
GRCh38:
Chr6:13093117-22126024
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
87.
GRCh37:
Chr6:106431-18360826
GRCh38:
Chr6:106431-18360595
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center