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Items: 98

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:
Chr16:93732-13420663
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
3.
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
4.
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
5.
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
6.
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
7.
GRCh37:
Chr16:2544805-3296579
GRCh38:
Chr16:2494804-3246579
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr16:2767953-4091021
GRCh38:
Chr16:2717952-4041020
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr16:2900735-7160698
GRCh38:
Chr16:2850734-7110697
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr16:3074338
GRCh38:
Chr16:3024337
THOC6A4VInborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr16:3075701
GRCh38:
Chr16:3025700
THOC6THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeBenign
(Sep 10, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr16:3075711-3075712
GRCh38:
Chr16:3025710-3025711
THOC6E15fsTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeLikely pathogenic
(Dec 28, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr16:3075715
GRCh38:
Chr16:3025714
THOC6V16MInborn genetic diseasesUncertain significance
(Oct 26, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr16:3075762
GRCh38:
Chr16:3025761
THOC6not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr16:3075804
GRCh38:
Chr16:3025803
THOC6Y45*, Y21*THOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic/Likely pathogenic
(Nov 7, 2020)
no assertion criteria provided
16.
GRCh37:
Chr16:3075805
GRCh38:
Chr16:3025804
THOC6G46R, G22RTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic
(Apr 26, 2013)
no assertion criteria provided
17.
GRCh37:
Chr16:3075808
GRCh38:
Chr16:3025807
THOC6Q47*, Q23*not providedPathogenic
(Oct 23, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr16:3075923
GRCh38:
Chr16:3025922
THOC6not providedLikely pathogenic
(Oct 11, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr16:3075999
GRCh38:
Chr16:3025998
THOC6THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not providedBenign
(Sep 10, 2021)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:3076078
GRCh38:
Chr16:3026077
THOC6V79I, V55IInborn genetic diseasesUncertain significance
(Oct 5, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr16:3076102
GRCh38:
Chr16:3026101
THOC6R87*, R63*Inborn genetic diseasesPathogenic
(Jan 9, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr16:3076141
Chr16:3077171
Chr16:3077380
GRCh38:
Chr16:3026140
Chr16:3027170
Chr16:3027379
THOC6, THOC6, THOC6W100R, W76R, V234L, V210L, G275D, G251DTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic
(Nov 6, 2020)
no assertion criteria provided
23.
GRCh37:
Chr16:3076141
GRCh38:
Chr16:3026140
THOC6W100R, W76RInborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided
Pathogenic/Likely pathogenic
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:3076142
GRCh38:
Chr16:3026141
THOC6W100*, W76*THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeLikely pathogenicno assertion criteria provided
25.
GRCh37:
Chr16:3076167
GRCh38:
Chr16:3026166
THOC6K108N, K84NTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr16:3076177
GRCh38:
Chr16:3026176
THOC6not providedLikely benign
(May 14, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr16:3076256
GRCh38:
Chr16:3026255
THOC6C110Y, C86YTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(Mar 25, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr16:3076270
GRCh38:
Chr16:3026269
THOC6R115fs, R91fsnot providedLikely pathogenic
(Apr 15, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr16:3076360
GRCh38:
Chr16:3026359
THOC6Inborn genetic diseasesUncertain significance
(Dec 2, 2020)
criteria provided, single submitter
30.
GRCh37:
Chr16:3076369
GRCh38:
Chr16:3026368
THOC6not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr16:3076382
GRCh38:
Chr16:3026381
THOC6P103S, P127SInborn genetic diseasesUncertain significance
(Jul 28, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr16:3076384
GRCh38:
Chr16:3026383
THOC6not providedLikely benign
(Jul 5, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr16:3076393
GRCh38:
Chr16:3026392
THOC6not providedBenign
(May 6, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr16:3076405
GRCh38:
Chr16:3026404
THOC6not providedLikely benign
(Apr 16, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr16:3076541
GRCh38:
Chr16:3026540
THOC6G122R, G146RTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(Jan 10, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr16:3076550
GRCh38:
Chr16:3026549
THOC6Q125*, Q149*THOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic
(Jun 5, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr16:3076587
GRCh38:
Chr16:3026586
THOC6T137M, T161MTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr16:3076667
GRCh38:
Chr16:3026666
THOC6THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(Jun 9, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr16:3076692
GRCh38:
Chr16:3026691
THOC6G142S, G166STHOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Inborn genetic diseasesUncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:3076713
GRCh38:
Chr16:3026712
THOC6C149R, C173RInborn genetic diseasesUncertain significance
(Oct 20, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr16:3076733
GRCh38:
Chr16:3026732
THOC6R179S, R155STHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(Mar 1, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr16:3076749
GRCh38:
Chr16:3026748
THOC6S185P, S161Pnot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr16:3076765
GRCh38:
Chr16:3026764
THOC6G190E, G166ETHOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not providedConflicting interpretations of pathogenicity
(Apr 23, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr16:3076773
GRCh38:
Chr16:3026772
THOC6R193*, R169*THOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic
(Oct 22, 2020)
no assertion criteria provided
45.
GRCh37:
Chr16:3076863
GRCh38:
Chr16:3026862
THOC6not providedLikely benign
(Jul 6, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr16:3076890
GRCh38:
Chr16:3026889
THOC6not providedLikely benign
(Feb 27, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr16:3076892
GRCh38:
Chr16:3026891
THOC6Q204P, Q180PTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic
(Nov 7, 2020)
no assertion criteria provided
48.
GRCh37:
Chr16:3076899-3076913
GRCh38:
Chr16:3026898-3026912
THOC6no interpretation for the single variantno interpretation for the single variant
49.
GRCh37:
Chr16:3076907
GRCh38:
Chr16:3026906
THOC6Y209F, Y185FInborn genetic diseasesUncertain significance
(Jul 28, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr16:3077030
GRCh38:
Chr16:3027029
THOC6N195H, N219Hnot providedLikely benign
(Apr 23, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr16:3077031
GRCh38:
Chr16:3027030
THOC6N219S, N195SInborn genetic diseasesUncertain significance
(May 4, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr16:3077171
GRCh38:
Chr16:3027170
THOC6V234L, V210LInborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2021)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr16:3077210
GRCh38:
Chr16:3027209
THOC6R247*, R223*not providedLikely pathogenic
(Sep 1, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr16:3077217
GRCh38:
Chr16:3027216
THOC6S225F, S249Fno interpretation for the single variantno interpretation for the single variant
55.
GRCh37:
Chr16:3077217
Chr16:3076899-3076913
GRCh38:
Chr16:3027216
Chr16:3026898-3026912
THOC6, THOC6S225F, S249FTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeLikely pathogenic
(Nov 29, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr16:3077219
GRCh38:
Chr16:3027218
THOC6T250P, T226PInborn genetic diseasesUncertain significance
(Jan 9, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr16:3077243
GRCh38:
Chr16:3027242
THOC6R258W, R234WInborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeUncertain significance
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:3077260
GRCh38:
Chr16:3027259
THOC6not providedLikely benign
(Mar 5, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr16:3077263-3077264
GRCh38:
Chr16:3027262-3027263
THOC6T241fs, T265fsTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromePathogenic
(Oct 22, 2020)
no assertion criteria provided
60.
GRCh37:
Chr16:3077282
GRCh38:
Chr16:3027281
THOC6THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeLikely pathogenic
(May 7, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr16:3077380
GRCh38:
Chr16:3027379
THOC6G275D, G251DInborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided
Pathogenic/Likely pathogenic
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr16:3077385
GRCh38:
Chr16:3027384
THOC6G277R, G253RInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr16:3077393
GRCh38:
Chr16:3027392
THOC6C255*, C279*THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeLikely pathogenic
(Feb 5, 2020)
no assertion criteria provided
64.
GRCh37:
Chr16:3077394
GRCh38:
Chr16:3027393
THOC6V256fs, V280fsInborn genetic diseasesPathogenic
(Apr 25, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr16:3077414
GRCh38:
Chr16:3027413
THOC6not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr16:3077446
GRCh38:
Chr16:3027445
THOC6P274fs, P298fsnot providedPathogenic
(Jun 19, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr16:3077581
GRCh38:
Chr16:3027580
THOC6not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr16:3077600
GRCh38:
Chr16:3027599
THOC6S278T, S299T, S323TInborn genetic diseasesUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr16:256302-4852572
Saldino-Mainzer syndrome, Epilepsy, Idiopathic generalized epilepsy,
Hyperaldosteronism, familial, type IV
Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr16:111043-6627459
See casesPathogenicno assertion criteria provided
71.
GRCh37:
Chr16:84485-5251013
not providedPathogenic
(Nov 21, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr16:2959279-30190593
ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADCY9, ALDOA, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ASPHD1, ATF7IP2, ATP2A1, ATXN2L, BCAR4, BFAR, BICDL2, BMERB1, BOLA2, C16orf54, C16orf82, C16orf89, C16orf90, C16orf92, C16orf96, CACNG3, CARHSP1, CCP110, CD19, CDIP1, CDIPT, CDR2, CEP20, CHP2, CIITA, CLDN6, CLDN9, CLEC16A, CLEC19A, CLN3, CLUAP1, COG7, COQ7, CORO7, CORO7-PAM16, CPPED1, CREBBP, CRYM, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, DNAJA3, DNASE1, DOC2A, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, FLYWCH1, GDE1, GDPD3, GGA2, GLIS2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HCFC1R1, HIRIP3, HMOX2, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL32, IL4R, INO80E, IQCK, ITPRIPL2, KATNIP, KCTD13, KDM8, KIF22, KNOP1, KREMEN2, LAT, LCMT1, LDAF1, LITAF, LYRM1, MAPK3, MARF1, MAZ, MEFV, METTL22, METTL9, MGRN1, MIR193B, MIR365A, MMP25, MOSMO, MPV17L, MRTFB, MTRNR2L4, MVP, MYH11, NAA60, NAGPA, NDE1, NDUFAB1, NFATC2IP, NLRC3, NMRAL1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NTAN1, NUBP1, NUDT16L1, NUPR1, OR1F1, OR2C1, OTOA, PAGR1, PALB2, PAM16, PAQR4, PARN, PDILT, PDXDC1, PDZD9, PKMYT1, PLA2G10, PLK1, PMM2, POLR3E, PPL, PPP4C, PRKCB, PRM1, PRM2, PRM3, PRRT2, QPRT, RABEP2, RBBP6, RBFOX1, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SEZ6L2, SGF29, SH2B1, SHISA9, SLC5A11, SLX1B, SLX4, SMG1, SMIM22, SNN, SNX29, SOCS1, SPN, SPNS1, SRL, SULT1A1, SULT1A2, SULT1A4, SYT17, TAOK2, TBX6, TEKT5, TFAP4, THOC6, THUMPD1, TIGD7, TLCD3B, TMC5, TMC7, TMEM114, TMEM186, TMEM219, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TRAP1, TUFM, TVP23A, TXNDC11, UBALD1, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, VASN, VPS35L, VWA3A, XPO6, XYLT1, YPEL3, ZC3H7A, ZG16, ZKSCAN2, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF75A, ZP2, ZSCAN10, ZSCAN32
See casesPathogenic
(Sep 1, 2020)
no assertion criteria provided
73.
GRCh37:
Chr16:85880-5249457
not providedPathogenic
(Jul 16, 2019)
no assertion criteria provided
74.
GRCh37:
Chr16:2651354-4614965
not providedPathogenic
(Mar 13, 2019)
no assertion criteria provided
75.
GRCh37:
Chr16:109978-4316797
Chromosome 16p13.3 duplication syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr16:88165-90274695
MATCAP1, MAZ, MBTPS1, MC1R, MCRIP2, MEAK7, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MGRN1, MIR1225, MIR138-2, MIR140, MIR193B, MIR328, MIR365A, MLKL, MLST8, MLYCD, MMP15, MMP2, MMP25, MON1B, MOSMO, MPG, MPHOSPH6, MPV17L, MRPL28, MRPS34, MRTFB, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, MYL11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NDE1, NDRG4, NDUFAB1, NDUFB10, NECAB2, NETO2, NFAT5, NFATC2IP, NFATC3, NHERF2, NHLRC4, NIP7, NKD1, NLRC3, NLRC5, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NRN1L, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUDT21, NUDT7, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, OTOA, PABPN1L, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PDIA2, PDILT, PDP2, PDPK1, PDPR, PDXDC1, PDZD9, PGAP6, PGP, PHAF1, PHKB, PHKG2, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRR35, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS54, PRSS8, PSKH1, PSMB10, PSMD7, PSME3IP1, PTX4, PYCARD, PYDC1, QPRT, RAB11FIP3, RAB26, RAB40C, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RFWD3, RGS11, RHBDF1, RHBDL1, RHOT2, RIPOR1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SETD6, SEZ6L2, SF3B3, SGF29, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC5A2, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYCE1L, SYNGR3, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2, TENT4B, TEPP, TERB1, TERF2, TERF2IP, TFAP4, TGFB1I1, THAP11, THOC6, THUMPD1, TIGD7, TK2, TLCD3B, TMC5, TMC7, TMED6, TMEM114, TMEM170A, TMEM186, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TOX3, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPPP3, TPSAB1, TPSB2, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TRIM72, TSC2, TSNAXIP1, TSR3, TUBB3, TUFM, TVP23A, TXNDC11, TXNL4B, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, VAC14, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, YPEL3, ZC3H18, ZC3H7A, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF19, ZNF200, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF785, ZNF821, ZNF843, ZNRF1, ZP2, ZSCAN10, ZSCAN32, AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, AHSP, AKTIP, ALDOA, ALG1, AMDHD2, AMFR, ANKRD11, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, BEAN1, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRD7, BRICD5, C16orf46, C16orf47, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CCDC78, CCL17, CCL22, CCNF, CCNYL3, CCP110, CD19, CD2BP2, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDIP1, CDIPT, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP119, CFAP20, CFDP1, CHD9, CHMP1A, CHP2, CHST4, CHST5, CHST6, CHTF18, CHTF8, CIAO2B, CIAO3, CIAPIN1, CIBAR2, CIITA, CKLF, CKLF-CMTM1, CLCN7, CLDN6, CLDN9, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, COQ9, CORO1A, CORO7, CORO7-PAM16, COTL1, COX4I1, COX6A2, CPNE2, CPNE7, CPPED1, CRAMP1, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CTF1, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DCTN5, DCTPP1, DCUN1D3, DDX19A, DDX19B, DDX28, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, DNAAF8, DNAH3, DNAJA2, DNAJA3, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, E4F1, EARS2, ECI1, EDC4, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELMO3, ELOB, EMC8, EME2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLYWCH1, FLYWCH2, FOXC2, FOXF1, FOXL1, FTO, FUS, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GDE1, GDPD3, GFER, GFOD2, GGA2, GINS2, GINS3, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HEATR3, HERPUD1, HIRIP3, HMOX2, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSBP1, HSD11B2, HSD17B2, HSD3B7, HSDL1, HSF4, HYDIN, IFT140, IGFALS, IGSF6, IL17C, IL21R, IL27, IL32, IL34, IL4R, INO80E, IQCK, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JMJD8, JPH3, JPT2, KARS1, KAT8, KATNB1, KATNIP, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, LUC7L, LYRM1, MAF, MAP1LC3B, MAPK3, MAPK8IP3, MARF1, MARVELD3
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
77.
GRCh37:
Chr16:88165-90163275
CIAO3, CIAPIN1, DCTPP1, GAN, IGSF6, IL17C, IL21R, LYRM1, MAF, NDE1, NDRG4, OTOA, PRSS53, SGF29, TOX3, TP53TG3, SLC5A11, SLC5A2, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SLX1A, SLX1B, SLC22A31, SLC38A7, SLC38A8, PSMD7, PSME3IP1, RAB11FIP3, PSKH1, PSMB10, PTX4, PYCARD, PYDC1, QPRT, RAB26, RAB40C, PRSS54, PRSS8, PDPK1, PDPR, PDXDC1, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PDIA2, PABPN1L, PDILT, PDP2, NFATC3, NHERF2, NHLRC4, NFATC2IP, NIP7, NKD1, NLRC3, NLRC5, NECAB2, NDUFAB1, NDUFB10, NETO2, NFAT5, MCRIP2, MEAK7, MAPK3, MAPK8IP3, MARF1, MARVELD3, MAP1LC3B, MC1R, MGRN1, MIR1225, MIR138-2, MATCAP1, MAZ, MBTPS1, IL34, IRX6, IST1, IL4R, INO80E, IL27, IL32, IQCK, IRF8, IRX3, IRX5, ITFG1, GINS2, GINS3, GLG1, GAS8, GAS8-AS1, GCSH, GDE1, GFER, GFOD2, GDPD3, GGA2, DNAAF8, DCUN1D3, DDX19A, DNAH3, DNAJA2, DNAJA3, DDX19B, DDX28, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, CIBAR2, CLDN6, CLEC18A, CLEC18B, CLDN9, CIITA, CKLF, CKLF-CMTM1, CLCN7, CLEC16A, CFDP1, CHD9, CHMP1A, CHP2, CHST4, CHST5, CHST6, CHTF18, CHTF8, CIAO2B, CLEC18C, CLEC19A, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, COQ9, CORO1A, CORO7, CORO7-PAM16, COTL1, COX4I1, COX6A2, CPNE2, CPNE7, CPPED1, CRAMP1, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CTF1, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DCTN5, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, E4F1, EARS2, ECI1, EDC4, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELMO3, ELOB, EMC8, EME2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLYWCH1, FLYWCH2, FOXC2, FOXF1, FOXL1, FTO, FUS, GABARAPL2, GALNS, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HEATR3, HERPUD1, HIRIP3, HMOX2, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSBP1, HSD11B2, HSD17B2, HSD3B7, HSDL1, HSF4, HYDIN, IFT140, IGFALS, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JMJD8, JPH3, JPT2, KARS1, KAT8, KATNB1, KATNIP, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, LUC7L, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MIR140, MIR193B, MIR328, MIR365A, MLKL, MLST8, MLYCD, MMP15, MMP2, MMP25, MON1B, MOSMO, MPG, MPHOSPH6, MPV17L, MRPL28, MRPS34, MRTFB, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, MYL11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NRN1L, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUDT21, NUDT7, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, PDZD9, PGAP6, PGP, PHAF1, PHKB, PHKG2, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRR35, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RFWD3, RGS11, RHBDF1, RHBDL1, RHOT2, RIPOR1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SETD6, SEZ6L2, SF3B3, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, STX1B, STX4, SULT1A1, SULT1A2, TP53TG3B, AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, ACSM5, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, AHSP, AKTIP, ALDOA, ALG1, AMDHD2, AMFR, ANKRD11, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, BEAN1, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRD7, BRICD5, C16orf46, C16orf47, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CCDC78, CCL17, CCL22, CCNF, CCNYL3, CCP110, CD19, CD2BP2, CDH1, CDH11, CDH13, CDIPT, CDH15, CDH16, CDH3, CDH5, CDH8, CDIP1, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP119, CFAP20, SULT1A3, SULT1A4, SYCE1L, SYNGR3, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2, TENT4B, TEPP, TERB1, TERF2, TERF2IP, TFAP4, TGFB1I1, THAP11, THOC6, THUMPD1, TIGD7, TK2, TLCD3B, TMC5, TMC7, TMED6, TMEM114, TMEM170A, TMEM186, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TP53TG3C, TP53TG3D, TPPP3, TPSAB1, TPSB2, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TRIM72, TSC2, TSNAXIP1, TSR3, TUBB3, TUFM, TVP23A, TXNDC11, TXNL4B, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, VAC14, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, YPEL3, ZC3H18, ZC3H7A, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF19, ZNF200, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF785, ZNF821, ZNF843, ZNRF1, ZP2, ZSCAN10, ZSCAN32
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
78.
GRCh37:
Chr16:61451-90294632