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Items: 1 to 100 of 124

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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh38:
Chr16:2047157-2220112
Tuberous sclerosis 2Pathogenic
(Jul 17, 2022)
criteria provided, single submitter
10.
GRCh38:
Chr16:2066081-2241220
Tuberous sclerosis 2Pathogenic
(Jul 17, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr16:2127606-2334390
GRCh38:
Chr16:2077605-2284389
Endometrial carcinomaUncertain significance
(Jan 1, 2014)
no assertion criteria provided
12.
GRCh37:
Chr16:2213922
GRCh38:
Chr16:2163921
TRAF7M1Vnot providedUncertain significance
(May 25, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr16:2213952
GRCh38:
Chr16:2163951
TRAF7R11CInborn genetic diseasesLikely benign
(May 10, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr16:2213977
GRCh38:
Chr16:2163976
TRAF7L19Pnot specifiedUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr16:2214007-2214015
GRCh38:
Chr16:2164006-2164014
TRAF7not providedBenign
(Jul 31, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr16:2215919
GRCh38:
Chr16:2165918
TRAF7V41IInborn genetic diseasesUncertain significance
(Nov 9, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr16:2218090
GRCh38:
Chr16:2168089
TRAF7S51NInborn genetic diseasesLikely benign
(Oct 29, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr16:2218097
GRCh38:
Chr16:2168096
TRAF7Y53*not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr16:2218138
GRCh38:
Chr16:2168137
TRAF7A67GInborn genetic diseasesLikely benign
(Oct 27, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr16:2218143
GRCh38:
Chr16:2168142
TRAF7S69PInborn genetic diseasesUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr16:2220631
GRCh38:
Chr16:2170630
TRAF7P83Lnot providedUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr16:2221274
GRCh38:
Chr16:2171273
TRAF7V120Mnot providedUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr16:2222193
GRCh38:
Chr16:2172192
TRAF7E159DInborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr16:2222300
GRCh38:
Chr16:2172299
TRAF7A195VCardiac, facial, and digital anomalies with developmental delayUncertain significance
(Sep 6, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr16:2222367
GRCh38:
Chr16:2172366
TRAF7S217Rnot providedUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr16:2222368
GRCh38:
Chr16:2172367
TRAF7A218SInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr16:2222594
GRCh38:
Chr16:2172593
TRAF7K263TGlobal developmental delayUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr16:2222598
GRCh38:
Chr16:2172597
TRAF7not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr16:2223188
GRCh38:
Chr16:2173187
TRAF7T267MInborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr16:2223334
GRCh38:
Chr16:2173333
TRAF7R316CInborn genetic diseasesUncertain significance
(May 6, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr16:2223357
GRCh38:
Chr16:2173356
TRAF7not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr16:2223362
GRCh38:
Chr16:2173361
TRAF7K325RInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr16:2223477
GRCh38:
Chr16:2173476
TRAF7not providedUncertain significance
(Oct 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr16:2223483
GRCh38:
Chr16:2173482
TRAF7Cardiac, facial, and digital anomalies with developmental delay, not providedConflicting interpretations of pathogenicity
(Jun 1, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr16:2223505
GRCh38:
Chr16:2173504
TRAF7K346ECardiac, facial, and digital anomalies with developmental delayPathogenic
(Oct 31, 2018)
no assertion criteria provided
36.
GRCh37:
Chr16:2223530-2223536
GRCh38:
Chr16:2173529-2173535
TRAF7not providedUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr16:2223532
GRCh38:
Chr16:2173531
TRAF7R355WCardiac, facial, and digital anomalies with developmental delayUncertain significance
(Jul 17, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr16:2223541
GRCh38:
Chr16:2173540
TRAF7A358TInborn genetic diseasesUncertain significance
(Oct 19, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr16:2223791
GRCh38:
Chr16:2173790
TRAF7D363Enot providedUncertain significance
(Jul 10, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr16:2223813
GRCh38:
Chr16:2173812
TRAF7R371Wnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr16:2223813
GRCh38:
Chr16:2173812
TRAF7R371GCardiac, facial, and digital anomalies with developmental delayPathogenic
(Oct 31, 2018)
no assertion criteria provided
42.
GRCh37:
Chr16:2223814
GRCh38:
Chr16:2173813
TRAF7R371QCardiac, facial, and digital anomalies with developmental delayLikely pathogeniccriteria provided, single submitter
43.
GRCh37:
Chr16:2223844
GRCh38:
Chr16:2173843
TRAF7Cardiac, facial, and digital anomalies with developmental delayUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr16:2223990
GRCh38:
Chr16:2173989
TRAF7L402Vnot providedPathogenic
(Sep 15, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr16:2224261
GRCh38:
Chr16:2174260
TRAF7T425Snot providedLikely pathogenic
(Aug 1, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr16:2224276
GRCh38:
Chr16:2174275
TRAF7K430Enot providedPathogenic
(Jan 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr16:2224297
GRCh38:
Chr16:2174296
TRAF7G437SInborn genetic diseasesUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr16:2225111
GRCh38:
Chr16:2175110
TRAF7Cardiac, facial, and digital anomalies with developmental delayUncertain significance
(Jun 8, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr16:2225386
GRCh38:
Chr16:2175385
TRAF7V491MInborn genetic diseasesLikely benign
(Jun 17, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr16:2225507
GRCh38:
Chr16:2175506
TRAF7D504HCardiac, facial, and digital anomalies with developmental delayUncertain significance
(Dec 4, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr16:2225564
GRCh38:
Chr16:2175563
TRAF7V523LCardiac, facial, and digital anomalies with developmental delayUncertain significance
(Oct 6, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr16:2225567
GRCh38:
Chr16:2175566
TRAF7R524WCardiac, facial, and digital anomalies with developmental delay, not providedPathogenic/Likely pathogenic
(Jul 9, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr16:2225611
GRCh38:
Chr16:2175610
TRAF7Y538*not providedUncertain significance
(Aug 30, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr16:2225868
GRCh38:
Chr16:2175867
TRAF7V554ICardiac, facial, and digital anomalies with developmental delayUncertain significance
(Jan 5, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr16:2225881
GRCh38:
Chr16:2175880
TRAF7S558Fnot providedPathogenic
(Feb 6, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr16:2225923
GRCh38:
Chr16:2175922
TRAF7I572TInborn genetic diseasesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr16:2225946
GRCh38:
Chr16:2175945
TRAF7L580Fnot providedUncertain significance
(Apr 19, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr16:2226086
GRCh38:
Chr16:2176085
TRAF7L595VCardiac, facial, and digital anomalies with developmental delayLikely pathogenic
(Sep 22, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr16:2226090
GRCh38:
Chr16:2176089
TRAF7T596MCardiac, facial, and digital anomalies with developmental delayUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr16:2226101
GRCh38:
Chr16:2176100
TRAF7G600SCardiac, facial, and digital anomalies with developmental delayConflicting interpretations of pathogenicity
(Dec 2, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr16:2226104
GRCh38:
Chr16:2176103
TRAF7T601ACardiac, facial, and digital anomalies with developmental delayPathogenic
(Oct 31, 2018)
no assertion criteria provided
62.
GRCh37:
Chr16:2226134-2226138
GRCh38:
Chr16:2176133-2176137
TRAF7T614fsSeizureUncertain significance
(Feb 23, 2020)
criteria provided, single submitter
63.
GRCh37:
Chr16:2226147
GRCh38:
Chr16:2176146
TRAF7K615Rnot providedUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr16:2226168
GRCh38:
Chr16:2176167
TRAF7D622Gnot providedUncertain significance
(May 26, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr16:2226176
GRCh38:
Chr16:2176175
TRAF7L625VSee casesLikely pathogenic
(Apr 26, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr16:2226273
GRCh38:
Chr16:2176272
TRAF7S629NCardiac, facial, and digital anomalies with developmental delayLikely pathogenic
(Nov 11, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr16:2226306
GRCh38:
Chr16:2176305
TRAF7L640PTRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, Cardiac, facial, and digital anomalies with developmental delayConflicting interpretations of pathogenicity
(Apr 7, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr16:2226351
GRCh38:
Chr16:2176350
TRAF7R655QCardiac, facial, and digital anomalies with developmental delay, TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, not provided,
TRAF7-related syndrome, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Jun 9, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr16:2226361-2226362
GRCh38:
Chr16:2176360-2176361
TRAF7A660fsnot providedUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr16:256302-4852572
Saldino-Mainzer syndrome, Epilepsy, Idiopathic generalized epilepsy,
Hyperaldosteronism, familial, type IV
Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr16:2106895-2227470
CASKIN1, MIR1225, PKD1, RAB26, TRAF7, TSC2not providedLikely pathogenic
(Aug 24, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr16:1942430-2653144
not providedUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:2021144-2266791
not providedPathogenic
(Jul 30, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr16:111043-6627459
See casesPathogenicno assertion criteria provided
75.
GRCh37:
Chr16:1847662-2653144
not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr16:1830141-2592737
not providedUncertain significance
(Apr 1, 2021)
no assertion criteria provided
77.
GRCh37:
Chr16:84485-5251013
not providedPathogenic
(Nov 21, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr16:2098597-2550979
Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
Uncertain significance
(Apr 13, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr16:85880-5249457
not providedPathogenic
(Jul 16, 2019)
no assertion criteria provided
80.
GRCh37:
Chr16:2157801-2288100
BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7Autosomal dominant polycystic kidney diseasePathogenic
(Jan 1, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr16:624055-2550979
Idiopathic generalized epilepsy, Hyperaldosteronism, familial, type IVUncertain significance
(Aug 14, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr16:2070917-2592737
not providedUncertain significance
(Aug 11, 2017)
no assertion criteria provided
83.
GRCh37:
Chr16:109978-4316797
Chromosome 16p13.3 duplication syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr16:2130259-2319717
not providedBenign
(Mar 13, 2013)
no assertion criteria provided
85.
GRCh37:
Chr16:2130243-2228644
MIR1225, RAB26, PKD1, TRAF7, CASKIN1, TSC2not providedBenign
(Mar 15, 2013)
no assertion criteria provided
86.
GRCh37:
Chr16:2130190-2319717
not providedBenign
(Mar 7, 2013)
no assertion criteria provided
87.
GRCh37:
Chr16:2130190-2311160
not providedBenign
(Mar 5, 2012)
no assertion criteria provided
88.
GRCh37:
Chr16:2130190-2301527
not providedBenign
(Feb 15, 2013)
no assertion criteria provided
89.
GRCh37:
Chr16:2218090-2247362
TRAF7, CASKIN1not providedBenign
(Mar 6, 2013)
no assertion criteria provided
90.
GRCh37:
Chr16:2215858-2324303
PGP, E4F1, RNPS1, ECI1, CASKIN1, BRICD5, DNASE1L2, TRAF7, MLST8not providedBenign
(Dec 30, 2010)
no assertion criteria provided
91.
GRCh37:
Chr16:2142976-2311160
not providedBenign
(Mar 9, 2013)
no assertion criteria provided
92.
GRCh37:
Chr16:2142103-2311160
not providedBenign
(Mar 8, 2013)
no assertion criteria provided
93.
GRCh37:
Chr16:2142103-2229887
CASKIN1, PKD1, RAB26, TRAF7not providedBenign
(Mar 15, 2013)
no assertion criteria provided
94.
GRCh37:
Chr16:2140554-2311160
not providedBenign
(Mar 13, 2013)
no assertion criteria provided
95.
GRCh37:
Chr16:2138508-2240341
CASKIN1, RAB26, PKD1, TRAF7, TSC2, MIR1225not providedBenign
(Mar 11, 2013)
no assertion criteria provided
96.
GRCh37:
Chr16:2133701-2319717
not providedBenign
(Mar 13, 2013)
no assertion criteria provided
97.
GRCh37:
Chr16:2132731-2311160
not providedBenign
(Mar 12, 2013)
no assertion criteria provided
98.
GRCh37:
Chr16:2132731-2294549
not providedBenign
(Mar 11, 2013)
no assertion criteria provided
99.
GRCh37:
Chr16:2132731-2218079
RAB26, TRAF7, PKD1, TSC2, MIR1225not providedBenign
(Mar 6, 2013)
no assertion criteria provided
100.
GRCh37:
Chr16:1813658-2319717
not providedBenign
(Mar 13, 2013)
no assertion criteria provided
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