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Items: 1 to 100 of 1964

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Jun 5, 2011)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Apr 16, 2012)
no assertion criteria provided
5.
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 casesPathogenic
(May 30, 2010)
no assertion criteria provided
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(May 27, 2010)
no assertion criteria provided
8.
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 casesPathogenic
(Apr 5, 2012)
no assertion criteria provided
9.
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 casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
10.
GRCh37:
Chr11:118306880
GRCh38:
Chr11:118436165
KMT2Anot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr11:118307228
GRCh38:
Chr11:118436513
KMT2AM1LWiedemann-Steiner syndromeUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:118307241
GRCh38:
Chr11:118436526
KMT2AC5Snot providedUncertain significance
(May 6, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:118307254
GRCh38:
Chr11:118436539
KMT2AF9LInborn genetic diseasesUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:118307258
GRCh38:
Chr11:118436543
KMT2AA11TWiedemann-Steiner syndromeUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:118307275
GRCh38:
Chr11:118436560
KMT2Anot providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:118307281
GRCh38:
Chr11:118436566
KMT2Anot providedLikely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:118307285
GRCh38:
Chr11:118436570
KMT2AG20Snot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:118307290
GRCh38:
Chr11:118436575
KMT2Anot providedUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr11:118307291
GRCh38:
Chr11:118436576
KMT2AR24fsWiedemann-Steiner syndromeLikely pathogenic
(Mar 23, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr11:118307296
GRCh38:
Chr11:118436581
KMT2Anot providedLikely benign
(Aug 10, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr11:118307296
GRCh38:
Chr11:118436581
KMT2Anot providedLikely benign
(Apr 19, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr11:118307305
GRCh38:
Chr11:118436590
KMT2Anot providedLikely benign
(May 1, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr11:118307309
GRCh38:
Chr11:118436594
KMT2AG28Wnot providedUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:118307310-118307380
GRCh38:
Chr11:118436595-118436665
KMT2AR32fsnot providedLikely pathogenic
(Aug 1, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr11:118307316
GRCh38:
Chr11:118436601
KMT2AA30Vnot providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr11:118307316
GRCh38:
Chr11:118436601
KMT2AA30Gnot specified, not providedBenign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr11:118307320
GRCh38:
Chr11:118436605
KMT2Anot providedLikely benign
(Aug 24, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:118307330
GRCh38:
Chr11:118436615
KMT2AV35Inot providedUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:118307332
GRCh38:
Chr11:118436617
KMT2Anot providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:118307334
GRCh38:
Chr11:118436619
KMT2AP36Lnot providedUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr11:118307348
GRCh38:
Chr11:118436633
KMT2AP41Snot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:118307349
GRCh38:
Chr11:118436634
KMT2AP41Rnot providedUncertain significance
(Nov 1, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr11:118307352
GRCh38:
Chr11:118436637
KMT2AP42LWiedemann-Steiner syndromeUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:118307354
GRCh38:
Chr11:118436639
KMT2AG43Rnot providedUncertain significance
(Oct 25, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:118307354
GRCh38:
Chr11:118436639
KMT2AP45fsWiedemann-Steiner syndromeLikely pathogenic
(Aug 20, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr11:118307355
GRCh38:
Chr11:118436640
KMT2AG43Enot providedUncertain significance
(Feb 15, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:118307357
GRCh38:
Chr11:118436642
KMT2AP44Snot providedUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:118307357
GRCh38:
Chr11:118436642
KMT2AP44TWiedemann-Steiner syndromeUncertain significance
(Aug 20, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr11:118307357
GRCh38:
Chr11:118436642
KMT2AP45fsInborn genetic diseasesPathogenic
(Jul 18, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr11:118307358
GRCh38:
Chr11:118436643
KMT2AP44Hnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:118307359
GRCh38:
Chr11:118436644
KMT2Anot providedLikely benign
(May 7, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:118307360
GRCh38:
Chr11:118436645
KMT2AP45SWiedemann-Steiner syndromeUncertain significance
(Feb 8, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr11:118307361
GRCh38:
Chr11:118436646
KMT2AP45Rnot specified, not providedUncertain significance
(Aug 4, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:118307362
GRCh38:
Chr11:118436647
KMT2AWiedemann-Steiner syndrome, not providedBenign/Likely benign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:118307364
GRCh38:
Chr11:118436649
KMT2AV46Anot providedBenign
(Jul 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:118307366
GRCh38:
Chr11:118436651
KMT2AG47Rnot providedLikely pathogenic
(May 8, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr11:118307367
GRCh38:
Chr11:118436652
KMT2AG47DInborn genetic diseasesUncertain significance
(Apr 28, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr11:118307370-118307404
GRCh38:
Chr11:118436655-118436689
KMT2AP51fsnot providedPathogenic
(Dec 30, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr11:118307374
GRCh38:
Chr11:118436659
KMT2Anot providedBenign
(Sep 25, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:118307376
GRCh38:
Chr11:118436661
KMT2AG50Dnot providedUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:118307379
GRCh38:
Chr11:118436664
KMT2AP51Rnot providedUncertain significance
(Mar 24, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:118307385
GRCh38:
Chr11:118436670
KMT2AA53Vnot provided, not specifiedBenign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:118307386
GRCh38:
Chr11:118436671
KMT2Anot providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:118307393-118307394
GRCh38:
Chr11:118436678-118436679
KMT2AS56fsInborn genetic diseasesPathogenic
(Jan 28, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr11:118307393-118307394
GRCh38:
Chr11:118436678-118436679
KMT2AA59fsWiedemann-Steiner syndromePathogenic
(May 28, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr11:118307394
GRCh38:
Chr11:118436679
KMT2AS56YWiedemann-Steiner syndrome, not providedUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:118307394
GRCh38:
Chr11:118436679
KMT2AP58fsInborn genetic diseasesPathogenic
(Mar 14, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr11:118307395
GRCh38:
Chr11:118436680
KMT2Anot providedLikely benign
(Sep 22, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:118307398
GRCh38:
Chr11:118436683
KMT2Anot providedLikely benign
(Oct 29, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr11:118307399
GRCh38:
Chr11:118436684
KMT2AP58Anot providedUncertain significance
(Dec 17, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:118307399
GRCh38:
Chr11:118436684
KMT2AP58Snot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr11:118307403
GRCh38:
Chr11:118436688
KMT2AA59Gnot providedUncertain significance
(Jun 30, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr11:118307405-118307428
GRCh38:
Chr11:118436690-118436713
KMT2Anot providedUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:118307406-118307407
GRCh38:
Chr11:118436691-118436692
KMT2Anot providedUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:118307407
GRCh38:
Chr11:118436692
KMT2Anot providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:118307413-118307414
GRCh38:
Chr11:118436698-118436699
KMT2Anot providedUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:118307413-118307414
GRCh38:
Chr11:118436698-118436699
KMT2Anot provided, Wiedemann-Steiner syndromeUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:118307413-118307414
GRCh38:
Chr11:118436698-118436699
KMT2Anot providedConflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr11:118307414-118307419
GRCh38:
Chr11:118436699-118436704
KMT2Anot providedUncertain significance
(Oct 25, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr11:118307414-118307416
GRCh38:
Chr11:118436699-118436701
KMT2AA67delnot provided, Wiedemann-Steiner syndromeLikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:118307416
GRCh38:
Chr11:118436701
KMT2Anot providedLikely benign
(Nov 17, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr11:118307430
GRCh38:
Chr11:118436715
KMT2AG68Enot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr11:118307434
GRCh38:
Chr11:118436719
KMT2Anot providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:118307436
GRCh38:
Chr11:118436721
KMT2AS70Nnot provided, Wiedemann-Steiner syndromeUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:118307436
GRCh38:
Chr11:118436721
KMT2AS70Tnot providedUncertain significance
(Oct 11, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr11:118307437
GRCh38:
Chr11:118436722
KMT2Anot providedLikely benign
(Mar 17, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:118307438
GRCh38:
Chr11:118436723
KMT2AG71Rnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr11:118307445
GRCh38:
Chr11:118436730
KMT2AG73Enot providedBenign/Likely benign
(Jun 18, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:118307453
GRCh38:
Chr11:118436738
KMT2AG76WWiedemann-Steiner syndromeUncertain significance
(Sep 10, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr11:118307454
GRCh38:
Chr11:118436739
KMT2AG76Anot providedBenign
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:118307456
GRCh38:
Chr11:118436741
KMT2AG77Rnot providedUncertain significance
(Jul 10, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr11:118307457
GRCh38:
Chr11:118436742
KMT2AG77Enot providedUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:118307484
GRCh38:
Chr11:118436769
KMT2AS86Lnot providedUncertain significance
(Jan 17, 2023)
criteria provided, single submitter
84.
GRCh37:
Chr11:118307487
GRCh38:
Chr11:118436772
KMT2AS87Lnot providedUncertain significance
(Oct 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:118307492
GRCh38:
Chr11:118436777
KMT2AA89TSee casesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:118307494-118307495
GRCh38:
Chr11:118436779-118436780
KMT2Anot providedUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:118307496
GRCh38:
Chr11:118436781
KMT2AS90*not providedPathogenic
(Jun 9, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:118307496
GRCh38:
Chr11:118436781
KMT2AS90Lnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:118307499
GRCh38:
Chr11:118436784
KMT2AS91Fnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr11:118307505
GRCh38:
Chr11:118436790
KMT2AS93Cnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:118307507-118307509
GRCh38:
Chr11:118436792-118436794
KMT2AS98delnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:118307509
GRCh38:
Chr11:118436794
KMT2Anot providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:118307516
GRCh38:
Chr11:118436801
KMT2AS97Pnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:118307517
GRCh38:
Chr11:118436802
KMT2AS97Fnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr11:118307518
GRCh38:
Chr11:118436803
KMT2Anot providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:118307527
GRCh38:
Chr11:118436812
KMT2Anot providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:118307530
GRCh38:
Chr11:118436815
KMT2Anot providedLikely benign
(Sep 23, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:118307531
GRCh38:
Chr11:118436816
KMT2AG102Rnot providedUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:118307534
GRCh38:
Chr11:118436819
KMT2AP103fsInborn genetic diseasesPathogenic
(Feb 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr11:118307536
GRCh38:
Chr11:118436821
KMT2Anot providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
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