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Items: 1 to 100 of 735

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:
Chr16:96766-11619372
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
4.
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
5.
GRCh37:
Chr16:4694893-29182141
GRCh38:
Chr16:4644892-29170820
ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ATF7IP2, ATP2A1, ATP2A1-AS1, ATXN2L, BCAR4, BFAR, BMERB1, C16orf82, C16orf89, CACNG3, CARHSP1, CCP110, CD19, CDR2, CDR2-DT, CEP20, CHP2, CIITA, CLEC16A, CLEC19A, CLN3, COG7, COQ7, COQ7-DT, CPPED1, CRYM, CRYM-AS1, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, GDE1, GGA2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, IQCK, ITPRIPL2, KATNIP, KDM8, KNOP1, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LDAF1, LINC01177, LINC01195, LINC01290, LINC01567, LINC01570, LINC02129, LINC02130, LINC02152, LINC02164, LINC02175, LINC02177, LINC02185, LINC02186, LINC02191, LINC02194, LINC02195, LITAF, LITAFD, LOC100128079, LOC100130283, LOC100190986, LOC100288162, LOC100505915, LOC101927131, LOC101927814, LOC102723692, LOC105371083, LOC106799840, LOC107522031, LOC110121335, LOC111365165, LOC111365198, LOC111464986, LOC111562378, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC112340389, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939949, LOC113939951, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC116276449, LOC116276450, LOC116276451, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121587532, LOC121587533, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC121847974, LOC121847975, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC125146423, LOC125146424, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, 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, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC126862306, LOC126862307, LOC126862308, LOC126862309, LOC126862310, LOC126862311, LOC126862312, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC400499, LYRM1, MARF1, METTL22, METTL9, MGRN1, MIR1273H, MIR193B, MIR193BHG, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR365A, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR3680-1, MIR4517, MIR4718, MIR4721, MIR484, MIR548H2, MIR548W, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6769A, MIR6770-1, MIR6770-2, MIR6770-3, MIR6862-1, MIR6862-2, MIR8065, MOSMO, MPV17L, MPV17L-BMERB1, MRTFB, MYH11, NAGPA, NAGPA-AS1, NDE1, NDUFAB1, NFATC2IP, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA7, NPIPA8, NPIPA9, NPIPB2, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, PALB2, NTAN1, NUBP1, NUDT16L1, NUPR1, OTOA, PARN, PDILT, PDXDC1, PDZD9, PLA2G10, PLK1, PMM2, POLR3E, PPL, PRKCB, PRM1, PRM2, PRM3, RABEP2, RBBP6, RBFOX1, REXO5, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, RSL1D1-DT, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SGF29, SH2B1, SHISA9, SLC5A11, SMG1, SMIM22, SNN, SNX29, SOCS1, SPNS1, SULT1A1, SULT1A2, SYT17, TEKT5, THUMPD1, TMC5, TMC7, TMEM114, TMEM186, TNFRSF17, TNP2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TRT-CGT2-1, TUFM, TVP23A, TXNDC11, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, USP7-AS1, VPS35L, VWA3A, XPO6, XYLT1, ZC3H7A, ZKSCAN2, ZKSCAN2-DT, ZNF500, ZP2
See casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
6.
GRCh37:
Chr16:8291224-9864047
GRCh38:
Chr16:8241222-9770190
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr16:8594483-8997306
GRCh38:
Chr16:8544481-8903449
ABAT, CARHSP1, LITAFD, LOC100130283, METTL22, PMM2, TMEM114, TMEM186, USP7See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr16:8629329-9237005
GRCh38:
Chr16:8579327-9143148
See casesUncertain significance
(Nov 14, 2012)
no assertion criteria provided
9.
GRCh37:
Chr16:8768460
GRCh38:
Chr16:8674603
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr16:8768483
GRCh38:
Chr16:8674626
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr16:8768503
GRCh38:
Chr16:8674646
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr16:8768558
GRCh38:
Chr16:8674701
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr16:8802477-9274528
GRCh38:
Chr16:8708620-9180671
See casesUncertain significance
(Jul 9, 2012)
no assertion criteria provided
14.
GRCh37:
Chr16:8829577-8875307
GRCh38:
Chr16:8735720-8781450
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(May 2, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr16:8829597
GRCh38:
Chr16:8735740
ABATM1VGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr16:8829604
GRCh38:
Chr16:8735747
ABATS3Ynot providedUncertain significance
(Dec 29, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr16:8829609
GRCh38:
Chr16:8735752
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(May 1, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr16:8829610
GRCh38:
Chr16:8735753
ABATL5WGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr16:8829614
GRCh38:
Chr16:8735757
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Jun 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr16:8829615
GRCh38:
Chr16:8735758
ABATA7TGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr16:8829621
GRCh38:
Chr16:8735764
ABATR9CInborn genetic diseases, Gamma-aminobutyric acid transaminase deficiencyUncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr16:8829622
GRCh38:
Chr16:8735765
ABATR9HInborn genetic diseases, Gamma-aminobutyric acid transaminase deficiencyConflicting interpretations of pathogenicity
(Jun 6, 2023)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr16:8829626
GRCh38:
Chr16:8735769
ABATnot provided, not specified, Gamma-aminobutyric acid transaminase deficiency
Benign/Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:8829638
GRCh38:
Chr16:8735781
ABATF14LGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr16:8829640
GRCh38:
Chr16:8735783
ABATQ15LGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr16:8829641
GRCh38:
Chr16:8735784
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(May 15, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr16:8829641
GRCh38:
Chr16:8735784
ABATQ15HInborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency, not provided
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:8829651
GRCh38:
Chr16:8735794
ABATR19SInborn genetic diseases, Gamma-aminobutyric acid transaminase deficiencyUncertain significance
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr16:8829651
GRCh38:
Chr16:8735794
ABATR19CGamma-aminobutyric acid transaminase deficiency, not providedConflicting interpretations of pathogenicity
(Nov 2, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr16:8829652
GRCh38:
Chr16:8735795
ABATR19LGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr16:8829652
GRCh38:
Chr16:8735795
ABATR19HGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr16:8829653
GRCh38:
Chr16:8735796
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Apr 1, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr16:8829654
GRCh38:
Chr16:8735797
ABATL20VGamma-aminobutyric acid transaminase deficiencyUncertain significance
(May 2, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr16:8829656
GRCh38:
Chr16:8735799
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 9, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr16:8829657
GRCh38:
Chr16:8735800
ABATL21VGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr16:8829658-8829660
GRCh38:
Chr16:8735801-8735803
ABATV22delGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr16:8829660
GRCh38:
Chr16:8735803
ABATV22LGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr16:8829661
GRCh38:
Chr16:8735804
ABATV22EGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr16:8829662
GRCh38:
Chr16:8735805
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Jan 17, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr16:8829664
GRCh38:
Chr16:8735807
ABATP23HGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr16:8829666
GRCh38:
Chr16:8735809
ABATG24R, G24SGamma-aminobutyric acid transaminase deficiencyUncertain significance
(May 4, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr16:8829671-8829672
GRCh38:
Chr16:8735814-8735815
ABATGamma-aminobutyric acid transaminase deficiencyBenign
(Oct 17, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr16:8829672
GRCh38:
Chr16:8735815
ABATGamma-aminobutyric acid transaminase deficiencyBenign
(Sep 30, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr16:8829672
GRCh38:
Chr16:8735815
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Nov 24, 2020)
criteria provided, single submitter
45.
GRCh37:
Chr16:8829673
GRCh38:
Chr16:8735816
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Apr 23, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr16:8829675
GRCh38:
Chr16:8735818
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 17, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr16:8829676
GRCh38:
Chr16:8735819
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 13, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr16:8829678
GRCh38:
Chr16:8735821
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Aug 29, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr16:8829679
GRCh38:
Chr16:8735822
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 24, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr16:8829682
GRCh38:
Chr16:8735825
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr16:8829686
GRCh38:
Chr16:8735829
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Aug 23, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr16:8829715
GRCh38:
Chr16:8735858
ABATGamma-aminobutyric acid transaminase deficiencyBenign
(Jul 14, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr16:8839839
GRCh38:
Chr16:8745982
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 31, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr16:8839844
GRCh38:
Chr16:8745987
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Aug 16, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr16:8839861
GRCh38:
Chr16:8746004
ABATS25CGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr16:8839864
GRCh38:
Chr16:8746007
ABATR26TGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr16:8839866
GRCh38:
Chr16:8746009
ABATH27NGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr16:8839883
GRCh38:
Chr16:8746026
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Jul 7, 2020)
criteria provided, single submitter
59.
GRCh37:
Chr16:8839889
GRCh38:
Chr16:8746032
ABATK34NGamma-aminobutyric acid transaminase deficiencyUncertain significance
(May 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr16:8839893
GRCh38:
Chr16:8746036
ABATD36NGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr16:8839895
GRCh38:
Chr16:8746038
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 25, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr16:8839895
GRCh38:
Chr16:8746038
ABATD36EGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr16:8839896
GRCh38:
Chr16:8746039
ABATV37Inot provided, Inborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:8839897
GRCh38:
Chr16:8746040
ABATV37AGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr16:8839897
GRCh38:
Chr16:8746040
ABATV37Gnot providedUncertain significance
(May 2, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr16:8839916
GRCh38:
Chr16:8746059
ABATnot provided, Gamma-aminobutyric acid transaminase deficiencyBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr16:8839922
GRCh38:
Chr16:8746065
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Jul 30, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr16:8839930
GRCh38:
Chr16:8746073
ABATT48M, T3MGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr16:8839931
GRCh38:
Chr16:8746074
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 3, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr16:8839931
GRCh38:
Chr16:8746074
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(May 19, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr16:8839937
GRCh38:
Chr16:8746080
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Jul 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr16:8839940
GRCh38:
Chr16:8746083
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 22, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:8839943
GRCh38:
Chr16:8746086
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Aug 9, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr16:8839945
GRCh38:
Chr16:8746088
ABATP53L, P8Lnot provided, Gamma-aminobutyric acid transaminase deficiencyUncertain significance
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr16:8839950
GRCh38:
Chr16:8746093
ABATS10P, S55Pnot provided, Gamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:8839954
GRCh38:
Chr16:8746097
ABATQ56R, Q11Rnot provided, Gamma-aminobutyric acid transaminase deficiencyBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:8839956
GRCh38:
Chr16:8746099
ABATGamma-aminobutyric acid transaminase deficiencyPathogenic
(Feb 1, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr16:8839958
GRCh38:
Chr16:8746101
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Feb 19, 2020)
criteria provided, single submitter
79.
GRCh37:
Chr16:8839960
GRCh38:
Chr16:8746103
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Nov 6, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr16:8839961
GRCh38:
Chr16:8746104
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr16:8839967
GRCh38:
Chr16:8746110
ABATGamma-aminobutyric acid transaminase deficiencyBenign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:8839968
GRCh38:
Chr16:8746111
ABATGamma-aminobutyric acid transaminase deficiencyConflicting interpretations of pathogenicity
(Dec 19, 2021)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr16:8839973
GRCh38:
Chr16:8746116
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 24, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr16:8839975
GRCh38:
Chr16:8746118
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Mar 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr16:8841946-8841948
GRCh38:
Chr16:8748089-8748091
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 10, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr16:8841952
GRCh38:
Chr16:8748095
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr16:8841957
GRCh38:
Chr16:8748100
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Aug 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr16:8841959
GRCh38:
Chr16:8748102
ABATnot provided, Gamma-aminobutyric acid transaminase deficiencyConflicting interpretations of pathogenicity
(Oct 8, 2020)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr16:8841960
GRCh38:
Chr16:8748103
ABATGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr16:8841960-8841961
GRCh38:
Chr16:8748103-8748104
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(May 17, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr16:8841960
GRCh38:
Chr16:8748103
ABATnot provided, Gamma-aminobutyric acid transaminase deficiencyBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:8841963
GRCh38:
Chr16:8748106
ABATGamma-aminobutyric acid transaminase deficiencyLikely pathogenic
(Aug 16, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr16:8841966
GRCh38:
Chr16:8748109
ABATE57A, E12AGamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 16, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr16:8841982
GRCh38:
Chr16:8748125
ABATE30*Gamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 2, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr16:8841986
GRCh38:
Chr16:8748129
ABATI64V, I19V, Y31Cnot provided, Gamma-aminobutyric acid transaminase deficiencyUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:8842001
GRCh38:
Chr16:8748144
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Apr 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr16:8842004
GRCh38:
Chr16:8748147
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 18, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr16:8842010
GRCh38:
Chr16:8748153
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Aug 15, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr16:8842014-8842018
GRCh38:
Chr16:8748157-8748161
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Oct 4, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr16:8844261
GRCh38:
Chr16:8750404
ABATGamma-aminobutyric acid transaminase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
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