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Items: 45

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
PEX6Peroxisome biogenesis disorder 4BPathogenic
(Jan 1, 2001)
no assertion criteria provided
2.
PEX6Peroxisome biogenesis disorder 4APathogenic
(Jan 1, 1999)
no assertion criteria provided
3.
PEX6Peroxisome biogenesis disorder 4APathogenic
(Jan 1, 1999)
no assertion criteria provided
4.
PEX6Peroxisome biogenesis disorder 4APathogenic
(Dec 1, 1996)
no assertion criteria provided
5.
PEX6Peroxisome biogenesis disorder 4APathogenic
(Dec 1, 1996)
no assertion criteria provided
6.
PEX6Peroxisome biogenesis disorder 4APathogenic
(Jun 17, 1996)
no assertion criteria provided
7.
PEX6Peroxisome biogenesis disorder 4APathogenic
(Jun 17, 1996)
no assertion criteria provided
8.
GRCh37:
Chr6:42932200
GRCh38:
Chr6:42964462
PEX6not specifiedGO-ESP:0.42688(T)
GMAF:0.33150(T)
Benign
(Dec 23, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr6:42932202
GRCh38:
Chr6:42964464
PEX6not specifiedGO-ESP:0.59757(T)
GMAF:0.49360(T)
Benign
(Dec 23, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr6:42932588
GRCh38:
Chr6:42964850
PEX6not providedUncertain significance
(Mar 2, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr6:42933450
GRCh38:
Chr6:42965712
PEX6Peroxisome biogenesis disorder 4APathogenic
(Apr 13, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr6:42933454
GRCh38:
Chr6:42965716
PEX6not specifiedGMAF:0.00240(T)Likely benign
(May 19, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr6:42933464
GRCh38:
Chr6:42965726
PEX6not specifiedGMAF:0.07510(A)Benign
(Mar 10, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr6:42933526
GRCh38:
Chr6:42965788
PEX6not specifiedGO-ESP:0.04875(T)
GMAF:0.10960(T)
Benign
(Jul 30, 2013)
criteria provided, single submitter
15.
GRCh37:
Chr6:42934097
GRCh38:
Chr6:42966359
PEX6not providedUncertain significance
(May 20, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr6:42934500
GRCh38:
Chr6:42966762
PEX6not specifiedGO-ESP:0.59780(T)
GMAF:0.49380(T)
Benign
(Dec 23, 2013)
criteria provided, single submitter
17.
GRCh37:
Chr6:42934523
GRCh38:
Chr6:42966785
PEX6not providedUncertain significance
(May 22, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr6:42934551
GRCh38:
Chr6:42966813
PEX6HEIMLER SYNDROME 2Pathogenic
(Oct 1, 2015)
no assertion criteria provided
19.
GRCh37:
Chr6:42935149
GRCh38:
Chr6:42967411
PEX6HEIMLER SYNDROME 2Pathogenic
(Oct 1, 2015)
no assertion criteria provided
20.
GRCh37:
Chr6:42935188
GRCh38:
Chr6:42967450
PEX6not provided, HEIMLER SYNDROME 2GMAF:0.00100(T)Conflicting interpretations of pathogenicity
(Oct 1, 2015)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr6:42936039
GRCh38:
Chr6:42968301
PEX6not providedGMAF:0.00080(T)Uncertain significance
(Apr 9, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr6:42936115
GRCh38:
Chr6:42968377
PEX6Peroxisome biogenesis disorder 4BPathogenic
(Sep 21, 2011)
no assertion criteria provided
23.
GRCh37:
Chr6:42936241
GRCh38:
Chr6:42968503
PEX6not providedGO-ESP:0.00147(A)
GMAF:0.00240(A)
Uncertain significance
(Mar 1, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr6:42937434-42937435
GRCh38:
Chr6:42969696-42969697
PEX6Peroxisome biogenesis disorder 4A, not providedPathogenic
(May 16, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr6:42937460
GRCh38:
Chr6:42969722
PEX6not providedUncertain significance
(Apr 13, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr6:42937544-42937545
GRCh38:
Chr6:42969806-42969807
PEX6not specifiedGMAF:0.02520(AA)Benign
(Nov 6, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr6:42941800
GRCh38:
Chr6:42974062
PEX6not specifiedGO-ESP:0.00331(C)
GMAF:0.00340(C)
Benign
(Aug 1, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr6:42942763
GRCh38:
Chr6:42975025
PEX6not providedGMAF:0.00020(T)Uncertain significance
(Feb 4, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr6:42942779
GRCh38:
Chr6:42975041
PEX6not specifiedGO-ESP:0.37667(G)
GMAF:0.28970(G)
Benign
(Dec 23, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr6:42946007-42946270
GRCh38:
Chr6:42978269-42978532
PEX6Peroxisome biogenesis disorder 4BPathogenic
(Jan 1, 2001)
no assertion criteria provided
31.
GRCh37:
Chr6:42946019
GRCh38:
Chr6:42978281
PEX6not providedUncertain significance
(May 11, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr6:42946068
GRCh38:
Chr6:42978330
PEX6HEIMLER SYNDROME 2Pathogenic
(Oct 1, 2015)
no assertion criteria provided
33.
GRCh37:
Chr6:42946199-42946200
GRCh38:
Chr6:42978461-42978462
PEX6Peroxisome biogenesis disorder 4A, not providedPathogenic
(Mar 26, 2013)
criteria provided, single submitter
34.
GRCh37:
Chr6:42946228
GRCh38:
Chr6:42978490
PEX6not providedLikely pathogeniccriteria provided, single submitter
35.
GRCh37:
Chr6:42946490
GRCh38:
Chr6:42978752
PEX6not specifiedGO-ESP:0.37541(A)
GMAF:0.33190(A)
Benign
(Oct 22, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr6:42946559
GRCh38:
Chr6:42978821
PEX6not specifiedGO-ESP:0.00242(C)
GMAF:0.00540(C)
Benign
(May 1, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr6:42946583
GRCh38:
Chr6:42978845
PEX6not providedUncertain significance
(Jan 2, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr6:42946654
GRCh38:
Chr6:42978916
PEX6not specifiedGMAF:0.00760(G)Benign
(May 15, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr6:42946679
GRCh38:
Chr6:42978941
PEX6not providedGMAF:0.00120(T)Uncertain significance
(Apr 30, 2013)
criteria provided, single submitter
40.
GRCh37:
Chr6:42946682
GRCh38:
Chr6:42978944
PEX6not specifiedGMAF:0.02400(A)Benign
(Mar 11, 2013)
criteria provided, single submitter
41.
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-CAT1-3, TRX-CAT2-1, TRR-ACG1-3, 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, FAM65B, 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-AGA2-4, DAAM2, GLTSCR1L, TRS-TGA4-1, DDAH2, MTCH1, ZNF318, SPDEF, YIPF3, USP49, OR2B6, FAM50B, OR12D2, 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, LRRC16A, 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, C6orf25, LY6G6C, LY6G5C, PRR3, ZNRD1-AS1, 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, PSMG4, SFTA2, CLPSL2, C6orf222, MUC21, LINC01011, STMND1, CASC15, LINC01623, LINC00243, MCCD1, SAPCD1, LINC00336, RAB44, LINC00951, LOC401261, CRIP3, C6orf201, ERVFRD-1, MIR219A1, HCG14, HCG23, HCG25, HCG16, HCG24, HCG18, HCG17, C6orf226, TMEM151B, OR2B3, 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-GTG1-8, 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-CAT1-5, TRS-CGA2-1, TRA-AGC6-1, TRA-AGC4-1, TRA-AGC5-1, TRW-CCA3-3, TRK-TTT4-1, TRA-TGC5-1, TRL-TAA4-1, TRS-AGA4-1, TRI-AAT2-1, TRQ-TTG3-3, TRS-AGA2-3, TRA-TGC6-1, TRR-CCG1-3, TRA-AGC7-1, TRA-AGC2-1, TRX-CAT1-4, TRI-AAT8-1, TRR-ACG2-3, TRV-CAC7-1, TRK-CTT2-5, TRM-CAT3-2, TRA-TGC2-1, TRL-AAG4-1, TRQ-CTG1-5, TRA-AGC10-1, TRI-TAT2-3, TRF-GAA1-5, TRQ-TTG2-1, TRT-AGT6-1, TRF-GAA5-1, TRA-TGC1-1, TRI-AAT5-3, TRS-GCT1-1, TRD-GTC2-10, 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-CTG1-4, TRV-CAC9-1, TRD-GTC3-1, TRL-AAG2-4, TRS-CGA3-1, TRI-AAT3-1, TRQ-CTG6-1, TRM-CAT3-1, TRS-GCT6-1, TRY-GTA6-1, TRP-AGG2-7, TRS-GCT4-3, TRV-CAC1-6, TRK-TTT3-5, TRL-CAA1-2, TRS-AGA2-5, TRF-GAA1-6, TRF-GAA6-1, TRQ-CTG2-1, TRY-GTA1-1, TRQ-CTG1-3, TRL-CAG1-7, TRD-GTC2-11, TRF-GAA4-1, TRA-AGC2-2, TRX-CAT1-7, TRA-AGC3-1, TRT-CGT5-1, TRL-CAA2-1, TRA-CGC1-1, TRI-AAT5-5, TRG-GCC2-6, TRX-CAT1-8, TRT-AGT2-1, TRQ-TTG3-1, TRQ-CTG5-1, TRK-TTT7-1, TRI-AAT5-4, TRY-GTA8-1, TRT-AGT2-2, TRT-TGT1-1, TRX-CAT1-6, TRA-AGC1-1, TRI-TAT3-1, TRS-AGA1-1, TRM-CAT4-2, TRA-AGC14-1, TRT-CGT3-1, TRV-CAC2-1, TRR-CCG1-2, TRV-CAC6-1, TRI-AAT6-1, TRT-AGT5-1, TRS-AGA2-2, TRK-TTT9-1, TRM-CAT4-3, TRA-CGC5-1, TRR-ACG1-2, TRA-CGC2-1, TRV-TAC4-1, TRR-TCG2-1, TRR-ACG2-4, TRS-TGA3-1, TRT-AGT3-1, TRW-CCA3-2, LOC100270746, ANKRD66, LOC100294145, MIR1275, MIR1236, MIR3143, MIR3934, MIR3925, MIR3691, LOC100505530, LOC100505635, LOC100506207, ELOVL2-AS1, JARID2-AS1, LOC100506885, LINC01012, LOC100507194, LINC01015, HCG8, 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, LOC101928491, LOC101928519, C6orf229, LOC101928663, LOC101929006, LOC101929188, LOC101929243, LOC101929555, LOC101929705, LOC101929726, C2-AS1, LINC01108, MIR6833, MIR6834, MIR6835, MIR6891, MIR7111, MIR6721, MIR6720, MIR6832, MIR6780B, MIR6873, MIR7159, MIR7853, LOC102724096, LINC01276, SAPCD1-AS1, TRIM31-AS1, OFCC1, LOC105374952, LOC105374960, LOC105374972, LOC105374988, LOC105375014, LOC105375075
See casesPathogenic
(Jul 1, 2013)
no assertion criteria provided
42.
GRCh37:
Chr6:41605799-46480686
GRCh38:
Chr6:41638061-46512949
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
43.
GRCh37:
Chr6:37745145-45621580
GRCh38:
Chr6:37777369-45653843
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr6:42101363-44073931
GRCh38:
Chr6:42133625-44106194
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr6:42336296-44558281
GRCh38:
Chr6:42368558-44590544
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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