| - GRCh37:
- Chr11:100219331-134910140
- GRCh38:
- Chr11:100348599-135040246
| AASDHPPT, ABCG4, ACAD8, ACAT1, ACRV1, ADAMTS15, ADAMTS8, ALG9, ALKBH8, ANGPTL5, ANKK1, APLP2, APOA1, APOA1-AS, APOA4, APOA5, APOC3, ARCN1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGAP42-AS1, ARHGEF12, ATM, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BCO2, BIRC2, BIRC3, BLID, BSX, BTG4, BUD13, C11orf52, C11orf65, C11orf71, C11orf87, C1QTNF5, C2CD2L, CADM1, CADM1-AS1, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP126, CEP164, CFAP300, CFAP68, CHEK1, CLDN25, CLMP, CNTN5, COLCA1, CRTAM, CRYAB, CUL5, CWF19L2, CXCR5, DCPS, DCUN1D5, DDI1, DDX10, DDX25, DDX6, DIXDC1, DLAT, DPAGT1, DRD2, DSCAML1, DYNC2H1, EI24, ELMOD1, ESAM, ESAM-AS1, ETS1, ETS1-AS1, EXPH5, FAM118B, FDX1, FDXACB1, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIA4, GRIK4, GSEC, GUCY1A2, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HOATZ, HSPA8, HSPB2, HSPB2-C11orf52, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, IL18, JAM3, JAML, JHY, KBTBD3, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LAYN, LINC00900, LINC01395, LINC02098, LINC02151, LINC02550, LINC02551, LINC02552, LINC02697, LINC02702, LINC02703, LINC02706, LINC02712, LINC02714, LINC02715, LINC02719, LINC02725, LINC02727, LINC02731, LINC02732, LINC02743, LINC02744, LINC02762, LINC02763, LINC02764, LINC02873, LOC100128088, LOC100128242, LOC100131626, LOC100132078, LOC100132686, LOC100507548, LOC100652768, LOC101928535, LOC101928847, LOC101928940, LOC101928985, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC102723838, LOC103611081, LOC105369509, LOC105369532, LOC105369535, LOC106865368, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC108491825, LOC110120853, LOC110120944, LOC110121342, LOC110121415, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC111718489, LOC111982889, LOC111982891, LOC111982892, LOC111982893, LOC111982894, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC113939918, LOC113939919, LOC114803469, LOC116225302, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392936, LOC121392937, LOC121392938, LOC121392939, LOC121392940, LOC121392941, LOC121392942, LOC121392943, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832819, LOC121832820, LOC121832821, LOC121832822, LOC121832823, LOC121832824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124625831, LOC124625832, LOC124625833, LOC124625834, LOC124625835, LOC124625836, LOC124625837, LOC124625838, LOC124625839, LOC124625840, LOC124625841, LOC124625842, LOC124625843, LOC124625844, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC126861328, LOC126861329, LOC126861330, LOC126861331, LOC126861332, LOC126861333, LOC126861334, LOC126861335, LOC126861336, LOC126861337, LOC126861338, LOC126861339, LOC126861340, LOC126861341, LOC126861342, LOC126861343, LOC126861344, LOC126861345, LOC126861346, LOC126861347, LOC126861348, LOC126861349, LOC126861350, LOC126861351, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772354, LOC128772355, LOC128772356, LOC128772357, LOC128772358, LOC128772359, LOC128772360, LOC128772361, LOC128772362, LOC128772363, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC643923, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR34B, MIR34BHG, MIR34C, MIR3656, MIR3920, MIR4301, MIR4491, MIR4492, MIR4493, MIR4693, MIR4697, MIR4697HG, MIR6090, MIR6716, MIR6756, MIR7641-1, MIR8052, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, MSANTD4, NCAM1, NCAM1-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NPAT, NRGN, NTM, NTM-AS1, NTM-IT, NXPE1, NXPE2, NXPE4, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDGFD, PGR, PGR-AS1, PHLDB1, PIH1D2, PKNOX2, PKNOX2-AS1, PKNOX2-DT, PLET1, POGLUT3, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPP2R1B, PRDM10, PRDM10-DT, PTS, PUS3, RAB39A, RBM7, RDX, REXO2, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SLC35F2, SDHD, SENCR, SIAE, SIDT2, SIK2, SIK3, SLC37A2, SLC37A4, SLN, SMIM35, SNORD13I, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, TEX12, THY1, THYN1, TIMM8B, TIRAP, TIRAP-AS1, TLCD5, TMEM123, TMEM123-DT, TMEM133, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TRPC6, TTC12, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, USP28, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, YAP1, ZBTB16, ZBTB44, ZBTB44-DT, ZC3H12C, ZNF202, ZPR1, ZW10 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:112832130-131059210
- GRCh38:
- Chr11:112864326-131189315
| ABCG4, ACRV1, ADAMTS15, ADAMTS8, ANKK1, APLP2, APOA1, APOA1-AS, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BACE1-AS, BARX2, BCL9L, BLID, BSX, BUD13, C11orf71, C1QTNF5, C2CD2L, CADM1, CADM1-AS1, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLDN25, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DRD2, DSCAML1, EI24, ESAM, ESAM-AS1, ETS1, ETS1-AS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LINC00900, LINC01395, LINC02098, LINC02151, LINC02551, LINC02702, LINC02703, LINC02712, LINC02725, LINC02727, LINC02744, LINC02873, LOC100128242, LOC100131626, LOC100652768, LOC101928847, LOC101928940, LOC101928985, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC103611081, LOC105369509, LOC105369532, LOC105369535, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC108491825, LOC110120944, LOC110121415, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC111718489, LOC111982892, LOC111982893, LOC111982894, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC113939918, LOC113939919, LOC114803469, LOC116225302, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392940, LOC121392941, LOC121392942, LOC121392943, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121832821, LOC121832822, LOC121832823, LOC124625839, LOC124625840, LOC124625841, LOC124625842, LOC124625843, LOC124625844, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC126861341, LOC126861342, LOC126861343, LOC126861344, LOC126861345, LOC126861346, LOC126861347, LOC126861348, LOC126861349, LOC126861350, LOC126861351, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4301, MIR4492, MIR4493, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NCAM1, NCAM1-AS1, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NLRX1, NNMT, NRGN, NXPE1, NXPE2, NXPE4, OAF, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PRDM10, PRDM10-DT, PUS3, RBM7, REXO2, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SENCR, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNX19, SORL1, SORL1-AS1, SPA17, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, THY1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC12, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, USP28, VPS11, VSIG10L2, VSIG2, VWA5A, ZBTB16, ZBTB44, ZBTB44-DT, ZNF202, ZPR1, ZW10 | | See cases | Pathogenic (Jun 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:113315168-120519630
- GRCh38:
- Chr11:113444446-120648921
| ABCG4, APOA1, APOA1-AS, APOA4, APOA5, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BACE1-AS, BCL9L, BUD13, C11orf71, C1QTNF5, C2CD2L, CADM1, CADM1-AS1, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CENATAC-DT, CEP164, CLDN25, CXCR5, DDX6, DPAGT1, DRD2, DSCAML1, FOXR1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HTR3A, HTR3B, HYOU1, IFT46, IL10RA, JAML, KMT2A, LINC00900, LINC02151, LINC02702, LINC02703, LINC02744, LOC100131626, LOC100652768, LOC101928940, LOC101928985, LOC105369509, LOC107984399, LOC108491825, LOC110121415, LOC110121460, LOC111413012, LOC111429625, LOC111718489, LOC111982892, LOC111982893, LOC111982894, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC113939918, LOC113939919, LOC116225302, LOC116225303, LOC121392941, LOC121392942, LOC121392943, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121832821, LOC124625840, LOC124625841, LOC124625842, LOC124625843, LOC124625844, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC126861343, LOC126861344, LOC126861345, LOC126861346, LOC126861347, LOC126861348, LOC126861349, LOC126861350, LOC126861351, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC649133, MCAM, MFRP, MIR3656, MIR4301, MIR4492, MIR6716, MIR6756, MPZL2, MPZL3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NHERF4, NLRX1, NNMT, NXPE1, NXPE2, NXPE4, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RBM7, REXO2, RNF214, RNF26, RPS25, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SMIM35, SNORD150, TAGLN, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TMPRSS5, TRAPPC4, TREH, TRIM29, TTC36, TTC36-AS1, UBE4A, UPK2, USP2, USP2-AS1, USP28, VPS11, ZBTB16, ZPR1, ZW10 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:116676984-134945165
- GRCh38:
- Chr11:116806268-135075271
| LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4492, MIR4493, MIR4697, MIR4697HG, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NLRX1, NRGN, NTM, NTM-AS1, NTM-IT, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PRDM10, PRDM10-DT, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SENCR, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, THY1, THYN1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, ZBTB44, ZBTB44-DT, ZNF202, ABCG4, ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA1-AS, APOA4, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BLID, BSX, C1QTNF5, C2CD2L, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ESAM-AS1, ETS1, ETS1-AS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, JAM3, JAML, JHY, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LINC01395, LINC02098, LINC02551, LINC02684, LINC02697, LINC02706, LINC02712, LINC02714, LINC02725, LINC02727, LINC02731, LINC02743, LINC02744, LINC02873, LOC100128242, LOC100131626, LOC100507548, LOC100652768, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC103611081, LOC105369532, LOC105369535, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC110120944, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC111718489, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC114803469, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382 | | See cases | Pathogenic (Apr 16, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:116722088-134868420
- GRCh38:
- Chr11:116851372-134998526
| ABCG4, ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1-AS, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BLID, BSX, C1QTNF5, C2CD2L, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ESAM-AS1, ETS1, ETS1-AS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, JAM3, JAML, JHY, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LINC01395, LINC02098, LINC02551, LINC02697, LINC02706, LINC02712, LINC02714, LINC02725, LINC02727, LINC02731, LINC02743, LINC02744, LINC02873, LOC100128242, LOC100131626, LOC100507548, LOC100652768, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC103611081, LOC105369532, LOC105369535, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC110120944, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC114803469, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4492, MIR4493, MIR4697, MIR4697HG, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NLRX1, NRGN, NTM, NTM-AS1, NTM-IT, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PRDM10, PRDM10-DT, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SENCR, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, THY1, THYN1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, ZBTB44, ZBTB44-DT, ZNF202 | | See cases | Pathogenic (May 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:116722111-134868407
- GRCh38:
- Chr11:116851395-134998513
| TBRG1, TECTA, THY1, THYN1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, ZBTB44, ZBTB44-DT, ZNF202, ABCG4, ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1-AS, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BLID, BSX, C1QTNF5, C2CD2L, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ESAM-AS1, ETS1, ETS1-AS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, JAM3, JAML, JHY, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LINC01395, LINC02098, LINC02551, LINC02697, LINC02706, LINC02712, LINC02714, LINC02725, LINC02727, LINC02731, LINC02743, LINC02744, LINC02873, LOC100128242, LOC100131626, LOC100507548, LOC100652768, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC103611081, LOC105369532, LOC105369535, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC110120944, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC114803469, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4492, MIR4493, MIR4697, MIR4697HG, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NLRX1, NRGN, NTM, NTM-AS1, NTM-IT, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PRDM10, PRDM10-DT, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SENCR, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:116722111-134868407
- GRCh38:
- Chr11:116851395-134998513
| ABCG4, ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1-AS, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BLID, BSX, C1QTNF5, C2CD2L, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ESAM-AS1, ETS1, ETS1-AS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, JAM3, JAML, JHY, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LINC01395, LINC02098, LINC02551, LINC02697, LINC02706, LINC02712, LINC02714, LINC02725, LINC02727, LINC02731, LINC02743, LINC02744, LINC02873, LOC100128242, LOC100131626, LOC100507548, LOC100652768, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC103611081, LOC105369532, LOC105369535, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC110120944, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC114803469, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4492, MIR4493, MIR4697, MIR4697HG, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NLRX1, NRGN, NTM, NTM-AS1, NTM-IT, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PRDM10, PRDM10-DT, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SENCR, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, THY1, THYN1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, ZBTB44, ZBTB44-DT, ZNF202 | | See cases | Pathogenic (May 27, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:116739651-134945165
- GRCh38:
- Chr11:116868935-135075271
| SCN2B, SCN3B, SCN4B, SENCR, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, THY1, THYN1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, ZBTB44, ZBTB44-DT, ZNF202, ABCG4, ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BLID, BSX, C1QTNF5, C2CD2L, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ESAM-AS1, ETS1, ETS1-AS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IGSF9B, IL10RA, JAM3, JAML, JHY, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LINC01395, LINC02098, LINC02551, LINC02684, LINC02697, LINC02706, LINC02712, LINC02714, LINC02725, LINC02727, LINC02731, LINC02743, LINC02744, LINC02873, LOC100128242, LOC100131626, LOC100507548, LOC100652768, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC103611081, LOC105369532, LOC105369535, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC110120944, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC114803469, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4492, MIR4493, MIR4697, MIR4697HG, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NLRX1, NRGN, NTM, NTM-AS1, NTM-IT, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PRDM10, PRDM10-DT, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D | | See cases | Pathogenic (Apr 5, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:117204668-127579051
- GRCh38:
- Chr11:117333952-127709156
| LINC02712, LINC02727, LINC02744, LOC100128242, LOC100131626, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC105369532, LOC105369535, LOC107984399, LOC110120944, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111465015, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC114803469, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC118567325, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR3656, MIR4492, MIR4493, MIR6716, MIR6756, MIRLET7A2, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NHERF4, NLRX1, NRGN, OAF, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PHLDB1, PKNOX2, PKNOX2-AS1, PKNOX2-DT, POU2F3, PUS3, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SIAE, SLC37A2, SLC37A4, SMIM35, SNORD14C, SNORD14D, SNORD14E, SNORD150, SORL1, SORL1-AS1, SPA17, SRPRA, ST3GAL4, STT3A, STT3A-AS1, TBCEL, TBCEL-TECTA, TBRG1, TECTA, THY1, TIRAP, TIRAP-AS1, TLCD5, TMEM218, TMEM225, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, VPS11, VSIG10L2, VSIG2, VWA5A, ZNF202, ABCG4, ACRV1, ARCN1, ARHGEF12, ATP5MG, BCL9L, BLID, BSX, C1QTNF5, C2CD2L, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ESAM-AS1, FAM118B, FEZ1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GRAMD1B, GRIK4, GSEC, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A | | See cases | Pathogenic (Jul 5, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr11:118306880
- GRCh38:
- Chr11:118436165
| KMT2A | | not provided | Likely benign (Nov 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307228
- GRCh38:
- Chr11:118436513
| KMT2A | M1L | Wiedemann-Steiner syndrome | Uncertain significance (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307241
- GRCh38:
- Chr11:118436526
| KMT2A | C5S | not provided | Uncertain significance (May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307254
- GRCh38:
- Chr11:118436539
| KMT2A | F9L | Inborn genetic diseases | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307258
- GRCh38:
- Chr11:118436543
| KMT2A | A11T | Wiedemann-Steiner syndrome | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307275
- GRCh38:
- Chr11:118436560
| KMT2A | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307281
- GRCh38:
- Chr11:118436566
| KMT2A | | not provided | Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307285
- GRCh38:
- Chr11:118436570
| KMT2A | G20S | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307290
- GRCh38:
- Chr11:118436575
| KMT2A | | not provided | Uncertain significance (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307291
- GRCh38:
- Chr11:118436576
| KMT2A | R24fs | Wiedemann-Steiner syndrome | Likely pathogenic (Mar 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307296
- GRCh38:
- Chr11:118436581
| KMT2A | | not provided | Likely benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307296
- GRCh38:
- Chr11:118436581
| KMT2A | | not provided | Likely benign (Apr 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307305
- GRCh38:
- Chr11:118436590
| KMT2A | | not provided | Likely benign (May 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307309
- GRCh38:
- Chr11:118436594
| KMT2A | G28W | not provided | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307310-118307380
- GRCh38:
- Chr11:118436595-118436665
| KMT2A | R32fs | not provided | Likely pathogenic (Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307316
- GRCh38:
- Chr11:118436601
| KMT2A | A30V | not provided | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307316
- GRCh38:
- Chr11:118436601
| KMT2A | A30G | not specified, not provided | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307320
- GRCh38:
- Chr11:118436605
| KMT2A | | not provided | Likely benign (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307330
- GRCh38:
- Chr11:118436615
| KMT2A | V35I | not provided | Uncertain significance (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307332
- GRCh38:
- Chr11:118436617
| KMT2A | | not provided | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307334
- GRCh38:
- Chr11:118436619
| KMT2A | P36L | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307348
- GRCh38:
- Chr11:118436633
| KMT2A | P41S | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307349
- GRCh38:
- Chr11:118436634
| KMT2A | P41R | not provided | Uncertain significance (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307352
- GRCh38:
- Chr11:118436637
| KMT2A | P42L | Wiedemann-Steiner syndrome | Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307354
- GRCh38:
- Chr11:118436639
| KMT2A | G43R | not provided | Uncertain significance (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307354
- GRCh38:
- Chr11:118436639
| KMT2A | P45fs | Wiedemann-Steiner syndrome | Likely pathogenic (Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307355
- GRCh38:
- Chr11:118436640
| KMT2A | G43E | not provided | Uncertain significance (Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307357
- GRCh38:
- Chr11:118436642
| KMT2A | P44S | not provided | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307357
- GRCh38:
- Chr11:118436642
| KMT2A | P44T | Wiedemann-Steiner syndrome | Uncertain significance (Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307357
- GRCh38:
- Chr11:118436642
| KMT2A | P45fs | Inborn genetic diseases | Pathogenic (Jul 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307358
- GRCh38:
- Chr11:118436643
| KMT2A | P44H | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307359
- GRCh38:
- Chr11:118436644
| KMT2A | | not provided | Likely benign (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307360
- GRCh38:
- Chr11:118436645
| KMT2A | P45S | Wiedemann-Steiner syndrome | Uncertain significance (Feb 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307361
- GRCh38:
- Chr11:118436646
| KMT2A | P45R | not specified, not provided | Uncertain significance (Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307362
- GRCh38:
- Chr11:118436647
| KMT2A | | Wiedemann-Steiner syndrome, not provided | Benign/Likely benign (Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307364
- GRCh38:
- Chr11:118436649
| KMT2A | V46A | not provided | Benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307366
- GRCh38:
- Chr11:118436651
| KMT2A | G47R | not provided | Likely pathogenic (May 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307367
- GRCh38:
- Chr11:118436652
| KMT2A | G47D | Inborn genetic diseases | Uncertain significance (Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307370-118307404
- GRCh38:
- Chr11:118436655-118436689
| KMT2A | P51fs | not provided | Pathogenic (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307374
- GRCh38:
- Chr11:118436659
| KMT2A | | not provided | Benign (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307376
- GRCh38:
- Chr11:118436661
| KMT2A | G50D | not provided | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307379
- GRCh38:
- Chr11:118436664
| KMT2A | P51R | not provided | Uncertain significance (Mar 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307385
- GRCh38:
- Chr11:118436670
| KMT2A | A53V | not provided, not specified | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307386
- GRCh38:
- Chr11:118436671
| KMT2A | | not provided | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307393-118307394
- GRCh38:
- Chr11:118436678-118436679
| KMT2A | S56fs | Inborn genetic diseases | Pathogenic (Jan 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307393-118307394
- GRCh38:
- Chr11:118436678-118436679
| KMT2A | A59fs | Wiedemann-Steiner syndrome | Pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307394
- GRCh38:
- Chr11:118436679
| KMT2A | S56Y | Wiedemann-Steiner syndrome, not provided | Uncertain significance (Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307394
- GRCh38:
- Chr11:118436679
| KMT2A | P58fs | Inborn genetic diseases | Pathogenic (Mar 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307395
- GRCh38:
- Chr11:118436680
| KMT2A | | not provided | Likely benign (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307398
- GRCh38:
- Chr11:118436683
| KMT2A | | not provided | Likely benign (Oct 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307399
- GRCh38:
- Chr11:118436684
| KMT2A | P58A | not provided | Uncertain significance (Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307399
- GRCh38:
- Chr11:118436684
| KMT2A | P58S | not provided | Uncertain significance (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307403
- GRCh38:
- Chr11:118436688
| KMT2A | A59G | not provided | Uncertain significance (Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307405-118307428
- GRCh38:
- Chr11:118436690-118436713
| KMT2A | | not provided | Uncertain significance (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307406-118307407
- GRCh38:
- Chr11:118436691-118436692
| KMT2A | | not provided | Uncertain significance (Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307407
- GRCh38:
- Chr11:118436692
| KMT2A | | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307413-118307414
- GRCh38:
- Chr11:118436698-118436699
| KMT2A | | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307413-118307414
- GRCh38:
- Chr11:118436698-118436699
| KMT2A | | not provided, Wiedemann-Steiner syndrome | Uncertain significance (Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307413-118307414
- GRCh38:
- Chr11:118436698-118436699
| KMT2A | | not provided | Conflicting interpretations of pathogenicity (Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:118307414-118307419
- GRCh38:
- Chr11:118436699-118436704
| KMT2A | | not provided | Uncertain significance (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307414-118307416
- GRCh38:
- Chr11:118436699-118436701
| KMT2A | A67del | not provided, Wiedemann-Steiner syndrome | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307416
- GRCh38:
- Chr11:118436701
| KMT2A | | not provided | Likely benign (Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307430
- GRCh38:
- Chr11:118436715
| KMT2A | G68E | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307434
- GRCh38:
- Chr11:118436719
| KMT2A | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307436
- GRCh38:
- Chr11:118436721
| KMT2A | S70N | not provided, Wiedemann-Steiner syndrome | Uncertain significance (Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307436
- GRCh38:
- Chr11:118436721
| KMT2A | S70T | not provided | Uncertain significance (Oct 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307437
- GRCh38:
- Chr11:118436722
| KMT2A | | not provided | Likely benign (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307438
- GRCh38:
- Chr11:118436723
| KMT2A | G71R | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307445
- GRCh38:
- Chr11:118436730
| KMT2A | G73E | not provided | Benign/Likely benign (Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307453
- GRCh38:
- Chr11:118436738
| KMT2A | G76W | Wiedemann-Steiner syndrome | Uncertain significance (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307454
- GRCh38:
- Chr11:118436739
| KMT2A | G76A | not provided | Benign (Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:118307456
- GRCh38:
- Chr11:118436741
| KMT2A | G77R | not provided | Uncertain significance (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307457
- GRCh38:
- Chr11:118436742
| KMT2A | G77E | not provided | Uncertain significance (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307484
- GRCh38:
- Chr11:118436769
| KMT2A | S86L | not provided | Uncertain significance (Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307487
- GRCh38:
- Chr11:118436772
| KMT2A | S87L | not provided | Uncertain significance (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307492
- GRCh38:
- Chr11:118436777
| KMT2A | A89T | See cases | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307494-118307495
- GRCh38:
- Chr11:118436779-118436780
| KMT2A | | not provided | Uncertain significance (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307496
- GRCh38:
- Chr11:118436781
| KMT2A | S90* | not provided | Pathogenic (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307496
- GRCh38:
- Chr11:118436781
| KMT2A | S90L | not provided | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307499
- GRCh38:
- Chr11:118436784
| KMT2A | S91F | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307505
- GRCh38:
- Chr11:118436790
| KMT2A | S93C | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307507-118307509
- GRCh38:
- Chr11:118436792-118436794
| KMT2A | S98del | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307509
- GRCh38:
- Chr11:118436794
| KMT2A | | not provided | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307516
- GRCh38:
- Chr11:118436801
| KMT2A | S97P | not provided | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307517
- GRCh38:
- Chr11:118436802
| KMT2A | S97F | not provided | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307518
- GRCh38:
- Chr11:118436803
| KMT2A | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307527
- GRCh38:
- Chr11:118436812
| KMT2A | | not provided | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307530
- GRCh38:
- Chr11:118436815
| KMT2A | | not provided | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307531
- GRCh38:
- Chr11:118436816
| KMT2A | G102R | not provided | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307534
- GRCh38:
- Chr11:118436819
| KMT2A | P103fs | Inborn genetic diseases | Pathogenic (Feb 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:118307536
- GRCh38:
- Chr11:118436821
| KMT2A | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |