U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 9408

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:73141-11390552
GRCh38:
Chr16:23141-11296695
LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WASIR2, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HAPSTR1, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC126862260, LOC126862261, LOC126862262, LOC126862263
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
2.
GRCh37:
Chr16:79941-2610461
GRCh38:
Chr16:29941-2560460
ABCA3, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FAM234A, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121847967, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC126862260, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG19, SNHG9, SNORA10, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRG-CCC2-2, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
3.
GRCh37:
Chr16:93732-13420663
GRCh38:
Chr16:43732-13326806
ZSCAN10, ZSCAN32, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BCAR4, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HAPSTR1, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927131, LOC101929613, LOC105371038, LOC105371046, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPIPB2, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, TXNDC11, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A
See casesPathogenic
(Sep 21, 2012)		no assertion criteria provided
4.
GRCh37:
Chr16:96766-4297186
GRCh38:
Chr16:46766-4247185
ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01569, LINC02124, LINC02861, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121847967, LOC121847968, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MIR3177, MEFV, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLX4, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
5.
GRCh37:
Chr16:96766-11619372
GRCh38:
Chr16:46766-11525516
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HAPSTR1, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927131, LOC101929613, LOC105371038, LOC105371046, LOC105371083, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MIR1225, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Feb 28, 2010)		no assertion criteria provided
6.
GRCh37:
Chr16:96766-3264623
GRCh38:
Chr16:46766-3214623
ABCA3, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CRAMP1, DECR2, DNASE1L2, E4F1, ECI1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121847967, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF598, ZSCAN10
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr16:716662-15836961
GRCh38:
Chr16:666662-15743104
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ATF7IP2, ATP6V0C, BAIAP3, BCAR4, BFAR, BICDL2, BMERB1, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERCC4, ERVK13-1, FAHD1, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HAPSTR1, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02130, LINC02152, LINC02164, LINC02177, LINC02185, LINC02186, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100288162, LOC100505915, LOC101927131, LOC101929613, LOC105371046, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111464986, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340386, LOC112340387, LOC112340388, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, LOC400499, MAPK8IP3, MAPK8IP3-AS1, MARF1, MEFV, MEIOB, METRN, METTL22, MGRN1, MIR1225, MIR193B, MIR193BHG, MIR1972-1, MIR3177, MIR3178, MIR3179-1, MIR3180-1, MIR3180-4, MIR3180-5, MIR365A, MIR3670-1, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR484, MIR548H2, MIR6126, MIR6506, MIR6511A1, MIR6511B1, MIR6511B2, MIR662, MIR6767, MIR6768, MIR6769A, MIR6770-1, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPV17L, MPV17L-BMERB1, MRPS34, MRTFB, MSLN, MSRB1, MTRNR2L4, MYH11, NAA60, NAGPA, NAGPA-AS1, NDE1, NDUFB10, NHERF2, NLRC3, NME3, NMRAL1, NOMO1, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB2, NPW, OR1F1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR2C1, PAM16, PAQR4, PARN, PDPK1, PDXDC1, PERCC1, PGP, PKD1, PKD1-AS1, PKMYT1, PLA2G10, PMM2, PPL, PRM1, PRM2, PRM3, PRR25, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB26, RBFOX1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RRN3, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TRT-CGT2-1, TSC2, TSR3, TVP23A, TXNDC11, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Jul 18, 2014)		no assertion criteria provided
8.
GRCh37:
Chr16:1271651-2283774
GRCh38:
Chr16:1221651-2233773
BAIAP3, BRICD5, CACNA1H, CASKIN1, CCDC154, CLCN7, CRAMP1, E4F1, EME2, FAHD1, GFER, GNPTG, HAGH, HS3ST6, IFT140, IGFALS, JPT2, LINC00254, LINC02124, LOC105371046, LOC106799915, LOC112340386, LOC112340387, LOC115253417, LOC116268480, LOC121530609, LOC121530610, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC126862260, MAPK8IP3, MAPK8IP3-AS1, MEIOB, MIR1225, MIR3177, MIR3180-5, MIR4516, MIR6511B1, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PERCC1, PGP, PKD1, PKD1-AS1, PTX4, RAB26, RNF151, RPL3L, RPS2, SNHG19, SNHG9, SNORA10, SNORA64, SNORA78, SNORD60, SPSB3, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, UQCC4, ZNF598
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
9.
GRCh37:
Chr16:1900979-2166370
GRCh38:
Chr16:1850978-2116369
GFER, HS3ST6, LINC00254, LINC02124, LOC116268480, LOC121530610, LOC125146375, LOC125146377, MEIOB, MIR1225, MIR6511B1, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, SNHG9, PKD1, PKD1-AS1, RNF151, RPL3L, RPS2, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598
See casesUncertain significance
(Aug 5, 2011)		no assertion criteria provided
10.
GRCh38:
Chr16:1851807-2093151
GFER, HS3ST6, LINC00254, LINC02124, LOC116268480, LOC121530610, LOC125146375, LOC125146377, MEIOB, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, PKD1, PKD1-AS1, RNF151, RPL3L, RPS2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598
Tuberous sclerosis 2Pathogenic
(Jul 10, 2020)		criteria provided, single submitter
11.
GRCh38:
Chr16:1903155-2093402
GFER, HS3ST6, LOC116268480, LOC121530610, LOC125146375, LOC125146377, MIR1225, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, SNHG9, PKD1, PKD1-AS1, RNF151, RPL3L, RPS2, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598
Tuberous sclerosis 2Pathogenic
(Jul 17, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr16:2075886-2138687
GRCh38:
Chr16:2025885-2088686
NTHL1, SLC9A3R2, TSC2See casesPathogenic
(Feb 4, 2013)		no assertion criteria provided
13.
GRCh37:
Chr16:2089915-2110824
GRCh38:
Chr16:2039914-2060823
NTHL1, TSC2Tuberous sclerosis 2Uncertain significance
(Jan 3, 2019)		criteria provided, single submitter
14.
GRCh37:
Chr16:2089915-2138621
GRCh38:
Chr16:2039914-2088620
NTHL1, TSC2Tuberous sclerosis 2Uncertain significance
(Dec 18, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr16:2096208
GRCh38:
Chr16:2046207
NTHL1, TSC2R92Hnot provided, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2,
Lymphangiomyomatosis, Isolated focal cortical dysplasia type II		Uncertain significance
(Mar 3, 2023)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:2096989-2110017
GRCh38:
Chr16:2046988-2060016
NTHL1, TSC2See casesUncertain significance
(Aug 12, 2011)		criteria provided, single submitter
17.
GRCh38:
Chr16:2047157-2220112
BRICD5, CASKIN1, LOC112340386, LOC112340387, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, NTHL1, PGP, PKD1, PKD1-AS1, RAB26, SNHG19, SNORD60, TRAF7, TSC2
Tuberous sclerosis 2Pathogenic
(Jul 17, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr16:2098009
GRCh38:
Chr16:2048008
TSC2Tuberous sclerosis syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr16:2098011
GRCh38:
Chr16:2048010
TSC2Tuberous sclerosis syndromeUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr16:2098014
GRCh38:
Chr16:2048013
TSC2Isolated focal cortical dysplasia type II, Lymphangiomyomatosis, Tuberous sclerosis 2,
Tuberous sclerosis syndrome		Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:2098024
GRCh38:
Chr16:2048023
TSC2Tuberous sclerosis syndromeLikely benign
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr16:2098031
GRCh38:
Chr16:2048030
TSC2not provided, Tuberous sclerosis syndromeBenign/Likely benign
(Jul 20, 2018)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:2098045-2098046
GRCh38:
Chr16:2048044-2048045
TSC2not specifiedLikely benign
(Mar 14, 2016)		criteria provided, single submitter
24.
GRCh37:
Chr16:2098045-2098060
GRCh38:
Chr16:2048044-2048059
TSC2not specifiedLikely benign
(Dec 24, 2015)		criteria provided, single submitter
25.
GRCh37:
Chr16:2098048
GRCh38:
Chr16:2048047
TSC2not providedBenign
(Jul 10, 2015)		criteria provided, single submitter
26.
GRCh37:
Chr16:2098051
GRCh38:
Chr16:2048050
TSC2not specifiedLikely benign
(Jan 18, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr16:2098056
GRCh38:
Chr16:2048055
TSC2not specifiedLikely benign
(Feb 5, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr16:2098058
GRCh38:
Chr16:2048057
TSC2not specifiedLikely benign
(Apr 2, 2013)		criteria provided, single submitter
29.
GRCh37:
Chr16:2098059-2098072
GRCh38:
Chr16:2048058-2048071
TSC2Tuberous sclerosis 2Uncertain significance
(Jul 6, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr16:2098060
GRCh38:
Chr16:2048059
TSC2not specifiedLikely benign
(Jan 2, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr16:2098062
GRCh38:
Chr16:2048061
TSC2not specified, Tuberous sclerosis syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr16:2098067
GRCh38:
Chr16:2048066
TSC2not provided, Lymphangiomyomatosis, Isolated focal cortical dysplasia type II,
Tuberous sclerosis 2		Uncertain significance
(Feb 23, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr16:2098067
GRCh38:
Chr16:2048066
TSC2not provided, Tuberous sclerosis 2Uncertain significance
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:2098068
GRCh38:
Chr16:2048067
TSC2not specified, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Aug 6, 2021)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr16:2098069-2098089
GRCh38:
Chr16:2048068-2048088
TSC2Hereditary cancer-predisposing syndrome, not providedBenign/Likely benign
(Oct 9, 2020)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:2098071
GRCh38:
Chr16:2048070
TSC2not specifiedUncertain significance
(Dec 7, 2016)		criteria provided, single submitter
37.
GRCh37:
Chr16:2098200
GRCh38:
Chr16:2048199
TSC2not providedLikely benign
(Jun 14, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr16:2098570
GRCh38:
Chr16:2048569
TSC2not specifiedLikely benign
(Nov 27, 2017)		criteria provided, single submitter
39.
GRCh37:
Chr16:2098571
GRCh38:
Chr16:2048570
TSC2not specifiedLikely benign
(Mar 16, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr16:2098578
GRCh38:
Chr16:2048577
TSC2not specified, not provided, Tuberous sclerosis syndrome
Benign
(Feb 18, 2020)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr16:2098581
GRCh38:
Chr16:2048580
TSC2Tuberous sclerosis 2Uncertain significance
(Jun 17, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr16:2098588-2138713
GRCh38:
Chr16:2048587-2088712
PKD1, TSC2Tuberous sclerosis 2Uncertain significance
(Nov 8, 2016)		criteria provided, single submitter
43.
GRCh37:
Chr16:2098588-2115636
GRCh38:
Chr16:2048587-2065635
TSC2Tuberous sclerosis 2Pathogenic
(Sep 27, 2016)		criteria provided, single submitter
44.
GRCh37:
Chr16:2098597-2124416
GRCh38:
Chr16:2048596-2074415
TSC2Tuberous sclerosis 2Pathogenic
(Jul 31, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr16:2098597-2169399
GRCh38:
Chr16:2048596-2119398
MIR1225, MIR6511B1, PKD1, PKD1-AS1, TSC2Tuberous sclerosis 2Pathogenic
(Jul 10, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr16:2098597-2156698
GRCh38:
Chr16:2048596-2106697
MIR1225, MIR6511B1, PKD1, PKD1-AS1, TSC2Tuberous sclerosis 2Pathogenic
(Jun 29, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr16:2098597-2098774
GRCh38:
Chr16:2048596-2048773
TSC2Tuberous sclerosis 2Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr16:2098611-2110820
GRCh38:
Chr16:2048610-2060819
TSC2Tuberous sclerosis 2Uncertain significance
(Dec 13, 2017)		criteria provided, single submitter
49.
GRCh37:
Chr16:2098611-2138617
GRCh38:
Chr16:2048610-2088616
TSC2Tuberous sclerosis 2Pathogenic
(Nov 30, 2017)		criteria provided, single submitter
50.
GRCh37:
Chr16:2098613
GRCh38:
Chr16:2048612
TSC2Hereditary cancer-predisposing syndromeUncertain significance
(Jan 31, 2019)		criteria provided, single submitter
51.
GRCh37:
Chr16:2098617
GRCh38:
Chr16:2048616
TSC2M12V, M1VTuberous sclerosis 2, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 10, 2021)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:2098618
GRCh38:
Chr16:2048617
TSC2M12K, M1KTuberous sclerosis 2Uncertain significance
(Sep 14, 2021)		criteria provided, single submitter
53.
GRCh37:
Chr16:2098618
GRCh38:
Chr16:2048617
TSC2M12T, M1TTuberous sclerosis 2, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:2098619
GRCh38:
Chr16:2048618
TSC2M1I, M12Inot providedLikely pathogenic
(Sep 12, 2017)		criteria provided, single submitter
55.
GRCh37:
Chr16:2098619
GRCh38:
Chr16:2048618
TSC2M1I, M12ITuberous sclerosis syndromenot providedno assertion provided
56.
GRCh37:
Chr16:2098619
GRCh38:
Chr16:2048618
TSC2A2fs, A13fsTuberous sclerosis syndromenot providedno assertion provided
57.
GRCh37:
Chr16:2098620
GRCh38:
Chr16:2048619
TSC2A2T, A13TTuberous sclerosis 2Uncertain significance
(May 18, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr16:2098620
GRCh38:
Chr16:2048619
TSC2A13P, A2PHereditary cancer-predisposing syndromeUncertain significance
(Dec 17, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr16:2098620
GRCh38:
Chr16:2048619
TSC2A2S, A13STuberous sclerosis 2Benign
(Mar 8, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr16:2098621
GRCh38:
Chr16:2048620
TSC2A13V, A2VTuberous sclerosis 2Uncertain significance
(Sep 2, 2021)		criteria provided, single submitter
61.
GRCh37:
Chr16:2098625
GRCh38:
Chr16:2048624
TSC2Tuberous sclerosis 2Likely benign
(Jan 28, 2021)		criteria provided, single submitter
62.
GRCh37:
Chr16:2098625-2098626
GRCh38:
Chr16:2048624-2048625
TSC2T5fs, T16fsnot providedLikely pathogenic
(Jan 7, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr16:2098627
GRCh38:
Chr16:2048626
TSC2P4L, P15LHereditary cancer-predisposing syndrome, Tuberous sclerosis 2Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr16:2098628
GRCh38:
Chr16:2048627
TSC2T16fs, T5fsTuberous sclerosis 2Pathogenic
(Apr 15, 2019)		criteria provided, single submitter
65.
GRCh37:
Chr16:2098629
GRCh38:
Chr16:2048628
TSC2T5A, T16ATuberous sclerosis 2Benign
(Sep 1, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr16:2098630-2098631
GRCh38:
Chr16:2048629-2048630
TSC2S17fs, S6fsTuberous sclerosis 2Pathogenic
(Feb 1, 2021)		criteria provided, single submitter
67.
GRCh37:
Chr16:2098632
GRCh38:
Chr16:2048631
TSC2S6C, S17CTuberous sclerosis 2Uncertain significance
(Jun 30, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr16:2098632
GRCh38:
Chr16:2048631
TSC2S6G, S17GHereditary cancer-predisposing syndrome, Tuberous sclerosis 2Uncertain significance
(Dec 9, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:2098633
GRCh38:
Chr16:2048632
TSC2S17T, S6TTuberous sclerosis 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr16:2098633
GRCh38:
Chr16:2048632
TSC2S6N, S17NTuberous sclerosis 2, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Oct 30, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr16:2098635-2098636
GRCh38:
Chr16:2048634-2048635
TSC2K18fs, K7fsTuberous sclerosis 2Pathogenic
(Dec 20, 2021)		criteria provided, single submitter
72.
GRCh37:
Chr16:2098635
GRCh38:
Chr16:2048634
TSC2K7*, K18*Tuberous sclerosis syndromenot providedno assertion provided
73.
GRCh37:
Chr16:2098635
GRCh38:
Chr16:2048634
TSC2D19fs, D8fsnot providedPathogenic
(Oct 23, 2019)		criteria provided, single submitter
74.
GRCh37:
Chr16:2098636
GRCh38:
Chr16:2048635
TSC2K7T, K18TTuberous sclerosis 2Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr16:2098636
GRCh38:
Chr16:2048635
TSC2K7R, K18RHereditary cancer-predisposing syndrome, Tuberous sclerosis 2, not provided
Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:2098638
GRCh38:
Chr16:2048637
TSC2D8fs, D19fsTuberous sclerosis 2Pathogenic
(Jul 9, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr16:2098638
GRCh38:
Chr16:2048637
TSC2D19N, D8NTuberous sclerosis 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr16:2098642
GRCh38:
Chr16:2048641
TSC2S9*, S20*Tuberous sclerosis 2Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr16:2098643
GRCh38:
Chr16:2048642
TSC2Tuberous sclerosis 2Likely benign
(Mar 16, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr16:2098643
GRCh38:
Chr16:2048642
TSC2Tuberous sclerosis 2Likely benign
(Mar 29, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr16:2098645
GRCh38:
Chr16:2048644
TSC2G10V, G21VTuberous sclerosis 2Uncertain significance
(Mar 5, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr16:2098645-2131595
GRCh38:
Chr16:2048644-2081594
TSC2Tuberous sclerosis 2Pathogenic
(Jun 30, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr16:2098646
GRCh38:
Chr16:2048645
TSC2Tuberous sclerosis 2Likely benign
(Apr 21, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr16:2098646
GRCh38:
Chr16:2048645
TSC2Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2Conflicting interpretations of pathogenicity
(Nov 7, 2021)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr16:2098647
GRCh38:
Chr16:2048646
TSC2Hereditary cancer-predisposing syndrome, not provided, Tuberous sclerosis 2
Benign/Likely benign
(Oct 12, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:2098647-2098649
GRCh38:
Chr16:2048646-2048648
TSC2Hereditary cancer-predisposing syndrome, not specified, Tuberous sclerosis 2
Benign/Likely benign
(Nov 7, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:2098647
GRCh38:
Chr16:2048646
TSC2not providedPathogenic
(Oct 3, 2014)		criteria provided, single submitter
88.
GRCh37:
Chr16:2098649
GRCh38:
Chr16:2048648
TSC2Tuberous sclerosis 2, Hereditary cancer-predisposing syndromeLikely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:2098650
GRCh38:
Chr16:2048649
TSC2K12*, K23*Tuberous sclerosis 2Pathogenic
(Jan 1, 1996)		no assertion criteria provided
90.
GRCh37:
Chr16:2098651-2098653
GRCh38:
Chr16:2048650-2048652
TSC2E13del, E24delTuberous sclerosis 2Uncertain significance
(Sep 4, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr16:2098652
GRCh38:
Chr16:2048651
TSC2K12N, K23NHereditary cancer-predisposing syndromeUncertain significance
(Jan 25, 2019)		criteria provided, single submitter
92.
GRCh37:
Chr16:2098652
GRCh38:
Chr16:2048651
TSC2Tuberous sclerosis 2, Hereditary cancer-predisposing syndromeLikely benign
(Jul 29, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:2098653
GRCh38:
Chr16:2048652
TSC2E13K, E24KTuberous sclerosis 2, Isolated focal cortical dysplasia type II, Lymphangiomyomatosis,
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome		Uncertain significance
(Dec 20, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:2098655
GRCh38:
Chr16:2048654
TSC2E13D, E24DHereditary cancer-predisposing syndrome, Tuberous sclerosis 2Conflicting interpretations of pathogenicity
(Aug 15, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr16:2098656
GRCh38:
Chr16:2048655
TSC2K14fs, K25fsTuberous sclerosis 2Pathogenic
(Apr 9, 2019)		criteria provided, single submitter
96.
GRCh37:
Chr16:2098657
GRCh38:
Chr16:2048656
TSC2K14R, K25RTuberous sclerosis 2, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 27, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:2098658-2098659
GRCh38:
Chr16:2048657-2048658
TSC2K16*, K27*Tuberous sclerosis 2Pathogenic
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:2098659
GRCh38:
Chr16:2048658
TSC2F26fs, F15fsTuberous sclerosis syndromenot providedno assertion provided
99.
GRCh37:
Chr16:2098659-2098665
GRCh38:
Chr16:2048658-2048664
TSC2K27fs, K16fsTuberous sclerosis 2Pathogenic
(Jul 10, 2020)		criteria provided, single submitter
100.
GRCh37:
Chr16:2098660-2098668
GRCh38:
Chr16:2048659-2048667
TSC2Tuberous sclerosis 2Uncertain significance
(Aug 13, 2021)		criteria provided, single submitter
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination