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Items: 1 to 100 of 177

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:156974-46757028
GRCh38:
Chr6:156974-46789291
MYMX, NBAT1, NCR2, NCR3, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NKAPL, NOL7, NOTCH4, NQO2, NQO2-AS1, NRM, NRN1, NRSN1, NUDT3, NUP153, NUP153-AS1, OARD1, OFCC1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR1F12, OR2B2, OR2B3, OR2B6, OR2B8P, PHACTR1, OR2H1, OR2H2, OR2I1P, OR2J1, OR2J2, OR2J3, OR2W1, OR5V1, PACSIN1, PAK1IP1, PANDAR, PBX2, PEX6, PFDN6, PGBD1, PGC, PHF1, PI16, PIM1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POM121L2, POU5F1, PPARD, PPIL1, PPP1R10, PPP1R11, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PPT2-EGFL8, PRICKLE4, PRL, PRPF4B, PRPH2, PRR3, PRRC2A, PRRT1, PRSS16, PSMB8, PSMB8-AS1, PXDC1, PSMB9, PSMG4, PSORS1C1, PXT1, RAB44, PSORS1C2, PSORS1C3, PTCRA, PTK7, RANBP9, RBM24, RCAN2, RCAN2-DT, RGL2, RPL7L1, RING1, RIOK1, RIPK1, RIPOR2, RNF144B, RNF182, RNF39, RNF5, RNF8, RPL10A, RPP21, RPP40, RPS10, RPS10-NUDT3, RPS18, RREB1, RRP36, RSPH9, RUNX2, RUNX2-AS1, SCARNA27, RXRB, SAPCD1, SAPCD1-AS1, SAYSD1, SCGN, SCIRT, SCUBE3, SERPINB1, SERPINB6, SERPINB9, SFTA2, SIRT5, SKIV2L, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A23, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC35B3, SLC39A7, SLC44A4, SMIM13, SMIM29, SMIM40, SNHG32, SPATS1, SNORA38, SNORD117, SNORD32B, SNORD48, SNORD52, SNORD84, SNRNP48, SNRPC, SOX4, SPDEF, SRF, SRPK1, SRSF3, SSR1, STK19, STK38, STMND1, SUPT3H, SYCP2L, SYNGAP1, TAF11, TAF8, TAP1, TAP2, TEAD3, TAPBP, TBC1D22B, TBC1D7, TBC1D7-LOC100130357, TBCC, TFAP2A, TCF19, TCP11, TCTE1, TDP2, TDRD6, TDRG1, TFAP2A-AS1, TFAP2A-AS2, TFEB, TJAP1, TMEM14B, TMEM14C, TMEM151B, TMEM170B, TMEM217, TMEM63B, TNF, TRA-AGC11-1, TRA-AGC14-1, TNXB, TOMM6, TPMT, TRA-AGC1-1, TRA-AGC10-1, TRA-AGC2-1, TRA-AGC2-2, TRA-AGC3-1, TRA-AGC4-1, TRA-AGC5-1, TRA-AGC6-1, TRA-AGC7-1, TRA-CGC1-1, TRA-CGC2-1, TRA-CGC4-1, TRA-CGC5-1, TRA-TGC1-1, TRA-TGC2-1, TRA-TGC5-1, TRA-TGC6-1, TRD-GTC2-6, TRD-GTC2-7, TRD-GTC3-1, TRE-CTC1-6, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRF-GAA1-1, TRF-GAA1-2, TRF-GAA3-1, TRI-AAT5-2, TRF-GAA5-1, TRF-GAA6-1, TRG-GCC2-3, TRH-GTG1-5, TRI-AAT2-1, TRI-AAT3-1, TRI-AAT5-1, TRI-AAT5-3, TRI-AAT6-1, TRI-AAT7-1, TRI-AAT7-2, TRI-AAT8-1, TRI-AAT9-1, TRI-TAT2-2, TRI-TAT2-3, TRI-TAT3-1, TRIM10, TRIM15, TRL-TAA4-1, TRIM26, TRIM27, TRIM31, TRIM31-AS1, TRIM38, TRIM39, TRIM39-RPP21, TRIM40, TRK-CTT2-4, TRK-TTT3-3, TRK-TTT4-1, TRK-TTT6-1, TRK-TTT7-1, TRK-TTT9-1, TRL-AAG2-2, TRL-AAG3-1, TRL-AAG4-1, TRL-CAA1-1, TRL-CAA1-2, TRL-CAA2-1, TRL-CAA3-1, TRL-CAG1-7, TRL-TAA2-1, TRM-CAT3-1, TRM-CAT3-2, TRM-CAT4-1, TRM-CAT4-2, TRM-CAT4-3, TRM-CAT5-1, TRM-CAT5-2, TRP-AGG2-2, TRP-CGG2-1, TRQ-CTG1-1, TRQ-CTG1-2, TRQ-CTG1-3, TRQ-CTG2-1, TRQ-CTG5-1, TRQ-CTG6-1, TRQ-TTG2-1, TRQ-TTG3-1, TRQ-TTG3-2, TRQ-TTG3-3, TRR-ACG1-1, TRR-ACG1-2, TRR-ACG2-2, TRR-ACG2-3, TRR-ACG2-4, TRR-CCG1-1, TRR-CCG1-2, TRR-TCG2-1, TRR-TCG4-1, TRR-TCG5-1, TRR-TCT5-1, TRS-AGA1-1, TRS-AGA2-1, TRS-AGA2-2, TRS-AGA2-3, TRS-AGA2-4, TRS-AGA3-1, TRS-AGA4-1, TRS-CGA2-1, TRS-CGA3-1, TRS-GCT1-1, TRS-GCT2-1, TRS-GCT4-1, TRS-GCT5-1, TRS-GCT6-1, TRS-TGA2-1, TRS-TGA3-1, TRS-TGA4-1, TRT-AGT2-1, TRT-AGT2-2, TRT-AGT3-1, TRT-AGT4-1, TRT-AGT6-1, TRT-CGT1-1, TRT-CGT3-1, TRT-CGT5-1, TRT-TGT1-1, TRV-AAC1-5, TRV-AAC3-1, TRV-AAC4-1, TRV-AAC5-1, TRV-AAC6-1, TRV-CAC1-6, TRV-CAC2-1, TRV-CAC6-1, TRV-CAC7-1, TRV-CAC9-1, TRV-TAC4-1, TRW-CCA3-1, TRW-CCA3-2, TRX-CAT1-2, TRX-CAT1-3, TRX-CAT1-4, TRX-CAT1-5, TRX-CAT1-6, TRX-CAT1-7, TRX-CAT2-1, TRY-GTA1-1, TRY-GTA3-1, TRY-GTA6-1, TRY-GTA8-1, TSBP1, TSBP1-AS1, TSPO2, TTBK1, TUBB, TUBB2A, TUBB2B, TULP1, TXNDC5, UBD, UBR2, UHRF1BP1, UNC5CL, UQCC2, USP49, VARS1, VARS2, VEGFA, VPS52, VWA7, WDR46, WRNIP1, XPO5, YIPF3, ZBED9, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF311, ZNF318, ZNF322, ZNF391, ZNF76, ZSCAN12, ZSCAN16, ZSCAN16-AS1, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, CLPSL2, CMTR1, CNPY3, CNPY3-GNMT, COL11A2, CPNE5, CRIP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAAM2-AS1, DAXX, DCDC2, DDAH2, DDR1, E2F3-IT1, ECI2, DDX39B, DDX39B-AS1, DEF6, DEK, DHX16, DINOL, DLK2, DNAH8, DNAH8-AS1, DNPH1, DSP, DTNBP1, DUSP22, DXO, E2F3, ECI2-DT, EDN1, EEF1E1, EEF1E1-BLOC1S5, EGFL8, EHMT2, ELOVL2, ELOVL2-AS1, ENPP4, ENPP5, ERVFRD-1, ERVK9-12, ETV7, ETV7-AS1, EXOC2, F13A1, FAM217A, FAM50B, FAM8A1, FANCE, FARS2, FGD2, FKBP5, FKBPL, FLOT1, FOXC1, FOXCUT, FOXF2, FOXF2-DT, FOXP4, FOXP4-AS1, FOXQ1, FRS3, GABBR1, GCM2, GCNT2, GFOD1, GFOD1-AS1, GLO1, GLP1R, GMDS, GMDS-DT, GMNN, GMPR, GNL1, GNMT, GPANK1, GPLD1, GPSM3, GPX5, GPX6, GRM4, GTF2H4, GTPBP2, GUCA1A, GUCA1ANB, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HCG11, HCG14, HCG15, HCG16, HCG17, HSP90AB1, HCG18, HCG20, HCG21, HCG22, HCG23, HCG24, HCG25, HUS1B, HCG26, HCG27, HCG4, HLA-DRB5, HCG4B, HCG9, HCP5, HLA-DQB1-AS1, HCP5B, HDGFL1, HFE, HFE-AS1, 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-E, HLA-F, HLA-F-AS1, HLA-G, HMGA1, HMGN4, HSD17B8, HSPA1A, HSPA1B, HSPA1L, HULC, ID4, IER3, IER3-AS1, ILRUN, ILRUN-AS1, IP6K3, IRF4, ITPR3, JARID2, JARID2-AS1, KAAG1, KCNK16, KCNK17, KCNK5, KCTD20, KDM1B, KIAA0319, KIF13A, KIF6, KIFC1, KLC4, KLHDC3, KU-MEL-3, LEMD2, LHFPL5, LINC00240, LINC00243, LINC00336, LINC00518, LINC00533, LINC00581, LINC00951, LINC01011, LINC01012, LINC01015, LINC01016, LINC01108, LINC01149, LINC01276, LINC01394, LINC01512, LINC01556, LINC01600, LINC01622, LINC01623, LINC02520, LINC02521, LINC02522, LINC02525, LINC02530, LINC02533, LINC02537, LINC02543, LINC02569, LINC02570, LINC02571, LINC02828, LINC02829, LNC-LBCS, LOC100129636, LOC100130357, LOC100131289, LOC100270746, LOC100287329, LOC100294145, LOC100422781, LOC100506207, LOC101927972, LOC101928191, LOC100507547, LOC101926915, LOC101926934, LOC101927691, LOC101927730, LOC101927759, LOC101927950, LOC101928253, LOC101928491, LOC101928519, LOC101928663, LOC101929006, LOC101929188, LOC101929555, LOC102724096, LOC105374960, LOC105374972, LOC105374988, LOC105375075, LOC106780800, LOC106780803, LOC106780804, LOC106794091, LOC106799837, LOC106799842, LOC107063610, LOC107403164, LOC108281124, LOC107648851, LOC107648856, LOC107648859, LOC107648863, LOC107648864, LOC107648866, LOC107986531, LOC107986596, LOC108004539, LOC108281120, LOC108281148, LOC108663993, LOC108961161, LOC109611589, LOC109611593, LOC110120645, LOC110120976, LOC110120988, LOC110121016, LOC110121052, LOC110121065, LOC110121068, LOC110121074, LOC110121080, LOC110121091, LOC110121112, LOC110121134, LOC110121220, LOC110121246, LOC110121247, LOC110121274, LOC110599562, LOC110631417, LOC111365167, LOC111365181, LOC111429610, LOC111429615, LOC111501776, LOC111556163, LOC111591500, LOC111721708, LOC111721709, LOC111828527, LOC111828528, LOC113121298, LOC113146407, LOC113146411, LOC113146412, LOC113146424, LOC113146425, LOC113174970, LOC113174974, LOC113174975, LOC113174976, LOC113174977, LOC113174978, LOC113174981, LOC113174982, LOC113174983, LOC113174984, LOC113174985, LOC113174986, LOC113174987, LOC113174988, LOC113174989, LOC113174991, LOC113174992, LOC113174993, LOC113174995, LOC113174996, LOC113174997, LOC113174998, LOC113174999, LOC113175000, LOC113175001, LOC113175002, LOC113175003, LOC113175004, LOC113175005, LOC113175008, LOC113175009, LOC113175013, LOC113175014, LOC113175015, LOC113175016, LOC114004399, LOC114004400, LOC114827825, LOC114827828, LOC116158537, LOC116158538, LOC116158539, LOC116158540, LOC116158541, LOC116158542, LOC116158543, LOC116158544, LOC116158545, LOC116158546, LOC116158547, LOC116158548, LOC116158549, LOC116158550, LOC116158551, LOC116158552, LOC116183041, LOC116183042, LOC116183043, LOC116183044, LOC116183045, LOC116183046, LOC116183047, LOC116183048, LOC116183049, LOC116183050, LOC116183051, LOC116183052, LOC116183053, LOC116183054, LOC116183055, LOC116183056, LOC116183057, LOC116183058, LOC116183059, LOC116183060, LOC116183061, LOC116183062, LOC116183063, LOC118142757, LOC120285838, LOC121099719, LOC121099720, LOC121099721, LOC121099722, LOC121099724, LOC121106426, LOC121113497, LOC121113498, LOC121113499, LOC121132669, LOC121132670, LOC121132671, LOC121132672, LOC121132673, LOC121132674, LOC121132675, LOC121132676, LOC121132677, LOC121132678, LOC121132679, LOC121132680, LOC121132681, LOC121132682, LOC121132683, LOC121132684, LOC121132685, LOC121132686, LOC285766, LOC285819, LOC285847, LOC401261, LOC554223, LOC643327, LRFN2, LRRC73, MAK, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY6G6F-LY6G6D, LY86, LY86-AS1, LYRM4, LYRM4-AS1, MAD2L1BP, MAPK13, MAPK14, MAS1L, MBOAT1, MIR5004, MCCD1, MCUR1, MDC1, MIR5683, MIR5689, MDC1-AS1, MDFI, MDGA1, MEA1, MED20, MICA, MICA-AS1, MICB, MIR548A1, MIR548A1HG, MICB-DT, MIR10398, MIR1236, MIR1275, MIR219A1, MIR3135B, MIR3143, MIR3691, MIR3925, MIR3934, MIR4462, MIR4639, MIR4640, MIR4641, MIR4642, MIR4645, MIR4646, MIR4647, MIR5689HG, MIR5690, MIR586, MIR6720, MIR6721, MIR6780B, MIR6832, MIR6833, MIR6834, MIR6835, MIR6873, MIR6891, MIR7111, MIR7159, MIR7853, MIR877, MIR9983, MLN, MOCS1, MOG, MPIG6B, MRPL14, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MSH5, MSH5-SAPCD1, MTCH1, MUC21, MUC22, MUCL3, MYLIP, MYLK4, AARS2, ABCC10, ABCF1, ABHD16A, ABT1, ACOT13, ADTRP, ANKRD66, AGER, AGPAT1, AIF1, ALDH5A1, ANKS1A, APOBEC2, APOM, ARMC12, ARMH2, ATAT1, ATF6B, ATP6V1G2, BNIP5, ATP6V1G2-DDX39B, ATXN1, ATXN1-AS1, B3GALT4, BTBD9-AS1, BAG6, BAK1, BICRAL, BLOC1S5, BLOC1S5-TXNDC5, BMP6, BPHL, BRD2, BRPF3, BRPF3-AS1, BTBD9, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BYSL, C2, C2-AS1, C4A, C4B, C6orf132, C6orf136, C6orf15, C6orf201, C6orf223, C6orf226, C6orf47, C6orf52, C6orf62, C6orf89, CAGE1, CAP2, CAPN11, CARMIL1, CASC15, CCDC167, CCHCR1, CCND3, CD83, CDC5L, CDKAL1, CDKN1A, CDSN, CDYL, CDYL-AS1, CFB, CLIC1, CLIC5, CLPS, CLPSL1
See casesPathogenic
(Jul 1, 2013)
no assertion criteria providedVCV000155430
2.
GRCh37:
Chr6:32813384
GRCh38:
Chr6:32845607
TAP1, PSMB8-AS1V800A, V539ABare lymphocyte syndrome type 1Uncertain significance
(Jul 5, 2017)
criteria provided, single submitterVCV000466387
3.
GRCh37:
Chr6:32813416
GRCh38:
Chr6:32845639
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Likely benign
(Feb 19, 2020)
criteria provided, single submitterVCV001133946
4.
GRCh37:
Chr6:32813421
GRCh38:
Chr6:32845644
TAP1, PSMB8-AS1Q788K, Q527KBare lymphocyte syndrome type 1Benign
(Nov 3, 2020)
criteria provided, single submitterVCV000466386
5.
GRCh37:
Chr6:32813436
GRCh38:
Chr6:32845659
TAP1, PSMB8-AS1G522W, G723WBare lymphocyte syndrome type 1Uncertain significance
(Jul 19, 2019)
criteria provided, single submitterVCV000953961
6.
GRCh37:
Chr6:32813448
GRCh38:
Chr6:32845671
TAP1, PSMB8-AS1A719T, A518TBare lymphocyte syndrome type 1Uncertain significance
(Jun 16, 2019)
criteria provided, single submitterVCV000936651
7.
GRCh37:
Chr6:32813449
GRCh38:
Chr6:32845672
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000773326
8.
GRCh37:
Chr6:32813459
GRCh38:
Chr6:32845682
TAP1, PSMB8-AS1L514R, L715RBare lymphocyte syndrome type 1Uncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000938034
9.
GRCh37:
Chr6:32813463
GRCh38:
Chr6:32845686
TAP1, PSMB8-AS1F513L, F714LBare lymphocyte syndrome type 1Uncertain significance
(Nov 11, 2019)
criteria provided, single submitterVCV000970299
10.
GRCh37:
Chr6:32813464
GRCh38:
Chr6:32845687
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Likely benign
(Oct 30, 2019)
criteria provided, single submitterVCV001141797
11.
GRCh37:
Chr6:32813472
GRCh38:
Chr6:32845695
TAP1, PSMB8-AS1H771D, H510DBare lymphocyte syndrome type 1Uncertain significance
(May 10, 2019)
criteria provided, single submitterVCV000569257
12.
GRCh37:
Chr6:32813527
GRCh38:
Chr6:32845750
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Likely benign
(Nov 11, 2020)
criteria provided, single submitterVCV000534729
13.
GRCh37:
Chr6:32813531
GRCh38:
Chr6:32845754
TAP1, PSMB8-AS1R490P, R691PBare lymphocyte syndrome type 1Uncertain significance
(Aug 10, 2020)
criteria provided, single submitterVCV000972503
14.
GRCh37:
Chr6:32813531
GRCh38:
Chr6:32845754
TAP1, PSMB8-AS1R490Q, R751Qnot provided, Bare lymphocyte syndrome type 1Likely benign
(Jul 13, 2020)
criteria provided, single submitterVCV000738461
15.
GRCh37:
Chr6:32813541
GRCh38:
Chr6:32845764
TAP1, PSMB8-AS1S487G, S688GBare lymphocyte syndrome type 1Uncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV001056023
16.
GRCh37:
Chr6:32813556
GRCh38:
Chr6:32845779
TAP1, PSMB8-AS1Q482K, Q683KBare lymphocyte syndrome type 1Uncertain significance
(Sep 8, 2020)
criteria provided, single submitterVCV001025702
17.
GRCh37:
Chr6:32813575
GRCh38:
Chr6:32845798
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Likely benign
(Oct 21, 2020)
criteria provided, single submitterVCV001101299
18.
GRCh37:
Chr6:32813576
GRCh38:
Chr6:32845799
TAP1, PSMB8-AS1Bare lymphocyte syndrome type 1Benign
(Nov 30, 2020)
criteria provided, single submitterVCV001164327
19.
GRCh37:
Chr6:32814839
GRCh38:
Chr6:32847062
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Dec 31, 2018)
criteria provided, single submitterVCV000640506
20.
GRCh37:
Chr6:32814901
GRCh38:
Chr6:32847124
TAP1C461R, C662RBare lymphocyte syndrome type 1Uncertain significance
(Sep 26, 2019)
criteria provided, single submitterVCV000942470
21.
GRCh37:
Chr6:32814902
GRCh38:
Chr6:32847125
TAP1Bare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000466384
22.
GRCh37:
Chr6:32814909
GRCh38:
Chr6:32847132
TAP1R719Q, R458QTAP1 deficiency, somatic, not provided, Bare lymphocyte syndrome type 1
Likely benign
(Dec 3, 2020)
criteria provided, single submitterVCV000013731
23.
GRCh37:
Chr6:32814917
GRCh38:
Chr6:32847140
TAP1Bare lymphocyte syndrome type 1, not providedLikely benign
(Jun 21, 2018)
criteria provided, single submitterVCV000761053
24.
GRCh37:
Chr6:32814921
GRCh38:
Chr6:32847144
TAP1R655Q, R454QBare lymphocyte syndrome type 1Uncertain significance
(Jun 26, 2020)
criteria provided, single submitterVCV001034756
25.
GRCh37:
Chr6:32814923
GRCh38:
Chr6:32847146
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jul 4, 2019)
criteria provided, single submitterVCV001127887
26.
GRCh37:
Chr6:32814928
GRCh38:
Chr6:32847151
TAP1L713M, L452MBare lymphocyte syndrome type 1Uncertain significance
(Mar 15, 2018)
criteria provided, single submitterVCV000579634
27.
GRCh37:
Chr6:32814929
GRCh38:
Chr6:32847152
TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 28, 2020)
criteria provided, single submitterVCV000728183
28.
GRCh37:
Chr6:32814930
GRCh38:
Chr6:32847153
TAP1A451V, A652VBare lymphocyte syndrome type 1Uncertain significance
(Apr 6, 2020)
criteria provided, single submitterVCV000998750
29.
GRCh37:
Chr6:32814942
GRCh38:
Chr6:32847165
TAP1R708Q, R447QBare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000466383
30.
GRCh37:
Chr6:32814948
GRCh38:
Chr6:32847171
TAP1G445V, G646VBare lymphocyte syndrome type 1Uncertain significance
(Mar 26, 2020)
criteria provided, single submitterVCV001060319
31.
GRCh37:
Chr6:32814948
GRCh38:
Chr6:32847171
TAP1G445A, G646ABare lymphocyte syndrome type 1Uncertain significance
(Jul 16, 2020)
criteria provided, single submitterVCV001007064
32.
GRCh37:
Chr6:32814958
GRCh38:
Chr6:32847181
TAP1Bare lymphocyte syndrome type 1, not providedLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV000712828
33.
GRCh37:
Chr6:32814975
GRCh38:
Chr6:32847198
TAP1D697G, D436Gnot specified, PEPTIDE TRANSPORTER PSF1 POLYMORPHISM, Bare lymphocyte syndrome type 1
Benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000013730
34.
GRCh37:
Chr6:32815286
GRCh38:
Chr6:32847509
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Apr 8, 2019)
criteria provided, single submitterVCV000945702
35.
GRCh37:
Chr6:32815314-32815327
GRCh38:
Chr6:32847537-32847550
TAP1H421fs, H622fsBare lymphocyte syndrome type 1Pathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV001074323
36.
GRCh37:
Chr6:32815355
GRCh38:
Chr6:32847578
TAP1T412I, T673I, T613IBare lymphocyte syndrome type 1Uncertain significance
(Jul 3, 2020)
criteria provided, single submitterVCV000843581
37.
GRCh37:
Chr6:32815368
GRCh38:
Chr6:32847591
TAP1M669V, M408VBare lymphocyte syndrome type 1Uncertain significance
(Sep 29, 2018)
criteria provided, single submitterVCV000644588
38.
GRCh37:
Chr6:32815381
GRCh38:
Chr6:32847604
TAP1Bare lymphocyte syndrome type 1, not providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV000762592
39.
GRCh37:
Chr6:32815410
GRCh38:
Chr6:32847633
TAP1L655V, L394V, L595VBare lymphocyte syndrome type 1Uncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV000842574
40.
GRCh37:
Chr6:32815421
GRCh38:
Chr6:32847644
TAP1F390S, F651S, F591SBare lymphocyte syndrome type 1Uncertain significance
(Mar 4, 2019)
criteria provided, single submitterVCV000852809
41.
GRCh37:
Chr6:32815423
GRCh38:
Chr6:32847646
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001147944
42.
GRCh37:
Chr6:32815447
GRCh38:
Chr6:32847670
TAP1Bare lymphocyte syndrome type 1Likely benign
(Apr 26, 2019)
criteria provided, single submitterVCV001086172
43.
GRCh37:
Chr6:32815713
GRCh38:
Chr6:32847936
TAP1R635C, R374CBare lymphocyte syndrome type 1Uncertain significance
(Jun 13, 2018)
criteria provided, single submitterVCV000581678
44.
GRCh37:
Chr6:32815714
GRCh38:
Chr6:32847937
TAP1H574Q, H373QBare lymphocyte syndrome type 1Uncertain significance
(May 6, 2019)
criteria provided, single submitterVCV000951483
45.
GRCh37:
Chr6:32815723
GRCh38:
Chr6:32847946
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Sep 11, 2019)
criteria provided, single submitterVCV000961582
46.
GRCh37:
Chr6:32815747
GRCh38:
Chr6:32847970
TAP1Bare lymphocyte syndrome type 1Likely benign
(Mar 22, 2020)
criteria provided, single submitterVCV001116353
47.
GRCh37:
Chr6:32815762
GRCh38:
Chr6:32847985
TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 18, 2020)
criteria provided, single submitterVCV000731998
48.
GRCh37:
Chr6:32815834
GRCh38:
Chr6:32848057
TAP1Bare lymphocyte syndrome type 1Likely benign
(Dec 4, 2019)
criteria provided, single submitterVCV001153763
49.
GRCh37:
Chr6:32815835
GRCh38:
Chr6:32848058
TAP1T594M, T333MBare lymphocyte syndrome type 1Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV000582193
50.
GRCh37:
Chr6:32815842
GRCh38:
Chr6:32848065
TAP1E592K, E331K, E532KBare lymphocyte syndrome type 1Uncertain significance
(Jul 19, 2020)
criteria provided, single submitterVCV000855753
51.
GRCh37:
Chr6:32815843
GRCh38:
Chr6:32848066
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jan 18, 2020)
criteria provided, single submitterVCV001082369
52.
GRCh37:
Chr6:32815843
GRCh38:
Chr6:32848066
TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 19, 2020)
criteria provided, single submitterVCV000534718
53.
GRCh37:
Chr6:32815850
GRCh38:
Chr6:32848073
TAP1R328H, R529HBare lymphocyte syndrome type 1Uncertain significance
(Jul 29, 2020)
criteria provided, single submitterVCV001005448
54.
GRCh37:
Chr6:32816431
GRCh38:
Chr6:32848654
TAP1Q582*, Q321*, Q522*Bare lymphocyte syndrome type 1Pathogenic
(Apr 8, 2019)
criteria provided, single submitterVCV000839821
55.
GRCh37:
Chr6:32816439
GRCh38:
Chr6:32848662
TAP1L318S, L579S, L519SBare lymphocyte syndrome type 1Uncertain significance
(Feb 3, 2019)
criteria provided, single submitterVCV000841075
56.
GRCh37:
Chr6:32816443
GRCh38:
Chr6:32848666
TAP1V578I, V317IBare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000466382
57.
GRCh37:
Chr6:32816448
GRCh38:
Chr6:32848671
TAP1P576L, P315Lnot provided, Bare lymphocyte syndrome type 1Conflicting interpretations of pathogenicity
(Nov 16, 2020)
criteria provided, conflicting interpretationsVCV000534714
58.
GRCh37:
Chr6:32816476
GRCh38:
Chr6:32848699
TAP1D567N, D306NBare lymphocyte syndrome type 1Uncertain significance
(Jun 26, 2018)
criteria provided, single submitterVCV000579991
59.
GRCh37:
Chr6:32816477
GRCh38:
Chr6:32848700
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Jan 31, 2020)
criteria provided, single submitterVCV001036715
60.
GRCh37:
Chr6:32816488
GRCh38:
Chr6:32848711
TAP1V302F, V503FBare lymphocyte syndrome type 1Uncertain significance
(Apr 23, 2020)
criteria provided, single submitterVCV001002889
61.
GRCh37:
Chr6:32816534
GRCh38:
Chr6:32848757
TAP1Bare lymphocyte syndrome type 1Benign
(Nov 10, 2020)
criteria provided, single submitterVCV000721848
62.
GRCh37:
Chr6:32816538
GRCh38:
Chr6:32848761
TAP1P546L, P285LBare lymphocyte syndrome type 1Uncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000647622
63.
GRCh37:
Chr6:32816621
GRCh38:
Chr6:32848844
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Nov 6, 2018)
criteria provided, single submitterVCV000655699
64.
GRCh37:
Chr6:32816762
GRCh38:
Chr6:32848985
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Sep 22, 2019)
criteria provided, single submitterVCV000942949
65.
GRCh37:
Chr6:32816772
GRCh38:
Chr6:32848995
TAP1V518L, V257LBare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000466381
66.
GRCh37:
Chr6:32816790
GRCh38:
Chr6:32849013
TAP1M251V, M512VBare lymphocyte syndrome type 1Uncertain significance
(Nov 15, 2018)
criteria provided, single submitterVCV000659028
67.
GRCh37:
Chr6:32816815
GRCh38:
Chr6:32849038
TAP1N242K, N443KBare lymphocyte syndrome type 1Uncertain significance
(Jun 12, 2020)
criteria provided, single submitterVCV000942271
68.
GRCh37:
Chr6:32816839
GRCh38:
Chr6:32849062
TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001099327
69.
GRCh37:
Chr6:32816889
GRCh38:
Chr6:32849112
TAP1G479C, G218CBare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000466380
70.
GRCh37:
Chr6:32818097
GRCh38:
Chr6:32850320
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Jan 24, 2019)
criteria provided, single submitterVCV000847590
71.
GRCh37:
Chr6:32818142
GRCh38:
Chr6:32850365
TAP1N461K, N200KBare lymphocyte syndrome type 1Uncertain significance
(Apr 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000534703
72.
GRCh37:
Chr6:32818190
GRCh38:
Chr6:32850413
TAP1Bare lymphocyte syndrome type 1Likely benign
(Oct 7, 2020)
criteria provided, single submitterVCV000534727
73.
GRCh37:
Chr6:32818212
GRCh38:
Chr6:32850435
TAP1R438Q, R177Qnot provided, Bare lymphocyte syndrome type 1Uncertain significance
(Sep 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000466379
74.
GRCh37:
Chr6:32818213
GRCh38:
Chr6:32850436
TAP1R177*, R378*Bare lymphocyte syndrome type 1Pathogenic
(Aug 30, 2019)
criteria provided, single submitterVCV000937533
75.
GRCh37:
Chr6:32818225
GRCh38:
Chr6:32850448
TAP1M434L, M173LBare lymphocyte syndrome type 1Uncertain significance
(Nov 2, 2018)
criteria provided, single submitterVCV000466378
76.
GRCh37:
Chr6:32818230
GRCh38:
Chr6:32850453
TAP1S171L, S432L, S372LBare lymphocyte syndrome type 1Uncertain significance
(Oct 25, 2020)
criteria provided, single submitterVCV000857517
77.
GRCh37:
Chr6:32818236
GRCh38:
Chr6:32850459
TAP1A430V, A169VBare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000466377
78.
GRCh37:
Chr6:32818242
GRCh38:
Chr6:32850465
TAP1I167T, I428TBare lymphocyte syndrome type 1Likely benign
(Nov 4, 2020)
criteria provided, single submitterVCV000715288
79.
GRCh37:
Chr6:32818244
GRCh38:
Chr6:32850467
TAP1Bare lymphocyte syndrome type 1Likely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001127417
80.
GRCh37:
Chr6:32818275
GRCh38:
Chr6:32850498
TAP1R156Q, R417Q, R357QBare lymphocyte syndrome type 1Uncertain significance
(Dec 23, 2019)
criteria provided, single submitterVCV000834634
81.
GRCh37:
Chr6:32818291
GRCh38:
Chr6:32850514
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jan 24, 2020)
criteria provided, single submitterVCV001118501
82.
GRCh37:
Chr6:32818297
GRCh38:
Chr6:32850520
TAP1not provided, Bare lymphocyte syndrome type 1Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000534731
83.
GRCh37:
Chr6:32818301
GRCh38:
Chr6:32850524
TAP1Bare lymphocyte syndrome type 1Likely benign
(Nov 21, 2019)
criteria provided, single submitterVCV001145899
84.
GRCh37:
Chr6:32818726
GRCh38:
Chr6:32850949
TAP1Y148H, Y349HBare lymphocyte syndrome type 1Uncertain significance
(Oct 10, 2020)
criteria provided, single submitterVCV001043329
85.
GRCh37:
Chr6:32818735
GRCh38:
Chr6:32850958
TAP1G145R, G406R, G346RBare lymphocyte syndrome type 1Uncertain significance
(Feb 7, 2020)
criteria provided, single submitterVCV000858052
86.
GRCh37:
Chr6:32818750
GRCh38:
Chr6:32850973
TAP1Bare lymphocyte syndrome type 1Likely benign
(Jul 26, 2019)
criteria provided, single submitterVCV001114572
87.
GRCh37:
Chr6:32818774
GRCh38:
Chr6:32850997
TAP1I393V, I132VPEPTIDE TRANSPORTER PSF1 POLYMORPHISM, Bare lymphocyte syndrome type 1, not specified
Benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000013729
88.
GRCh37:
Chr6:32818794
GRCh38:
Chr6:32851017
TAP1S386Y, S125YBare lymphocyte syndrome type 1Uncertain significance
(Feb 22, 2020)
criteria provided, single submitterVCV000534709
89.
GRCh37:
Chr6:32818800
GRCh38:
Chr6:32851023
TAP1S123*, S384*Bare lymphocyte syndrome type 1Pathogenic
(Oct 13, 2018)
criteria provided, single submitterVCV000642101
90.
GRCh37:
Chr6:32818812
GRCh38:
Chr6:32851035
TAP1M380K, M119K, M320KBare lymphocyte syndrome type 1Uncertain significance
(Dec 2, 2019)
criteria provided, single submitterVCV000859363
91.
GRCh37:
Chr6:32818836
GRCh38:
Chr6:32851059
TAP1R111Q, R312QBare lymphocyte syndrome type 1Uncertain significance
(Jul 10, 2019)
criteria provided, single submitterVCV000951669
92.
GRCh37:
Chr6:32818886
GRCh38:
Chr6:32851109
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001150653
93.
GRCh37:
Chr6:32818890
GRCh38:
Chr6:32851113
TAP1T294I, T93IBare lymphocyte syndrome type 1Uncertain significance
(Aug 21, 2020)
criteria provided, single submitterVCV001009274
94.
GRCh37:
Chr6:32818914
GRCh38:
Chr6:32851137
TAP1S346F, S85FBare lymphocyte syndrome type 1Benign
(Dec 2, 2020)
criteria provided, single submitterVCV000534721
95.
GRCh37:
Chr6:32818917
GRCh38:
Chr6:32851140
TAP1M285T, M84TBare lymphocyte syndrome type 1Uncertain significance
(Jul 23, 2019)
criteria provided, single submitterVCV000954588
96.
GRCh37:
Chr6:32818935
GRCh38:
Chr6:32851158
TAP1Bare lymphocyte syndrome type 1Uncertain significance
(Aug 30, 2020)
criteria provided, single submitterVCV001040967
97.
GRCh37:
Chr6:32819911
GRCh38:
Chr6:32852134
TAP1Bare lymphocyte syndrome type 1Likely benign
(Sep 20, 2020)
criteria provided, single submitterVCV001129842
98.
GRCh37:
Chr6:32819920
GRCh38:
Chr6:32852143
TAP1Bare lymphocyte syndrome type 1Likely benign
(Feb 13, 2019)
criteria provided, single submitterVCV001133492
99.
GRCh37:
Chr6:32819921
GRCh38:
Chr6:32852144
TAP1R330H, R69HBare lymphocyte syndrome type 1Uncertain significance
(Jul 31, 2018)
criteria provided, single submitterVCV000466394
100.
GRCh37:
Chr6:32819922
GRCh38:
Chr6:32852145
TAP1R69C, R270CBare lymphocyte syndrome type 1Uncertain significance
(Sep 12, 2019)
criteria provided, single submitterVCV000953392
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