| - GRCh37:
- Chr11:20101020-34485543
- GRCh38:
- Chr11:20079474-34463996
| ABTB2, ANO3, ANO3-AS1, ANO5, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD59, CSTF3, CSTF3-DT, DBX1, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FBXO3, FBXO3-DT, FIBIN, FSHB, GAS2, HIPK3, HTATIP2, IMMP1L, KCNA4, KIAA1549L, KIF18A, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01495, LINC01616, LINC02546, LINC02686, LINC02699, LINC02718, LINC02721, LINC02722, LINC02726, LINC02742, LINC02755, LINC02758, LINC02859, LINC03031, LMO2, LOC101928385, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC111365162, LOC112067717, LOC112067718, LOC113939921, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC121832789, LOC124421507, LOC124421508, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC126861159, LOC126861160, LOC126861161, LOC126861162, LOC126861163, LOC126861164, LOC126861165, LOC126861166, LOC126861167, LOC126861168, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC129390271, LOC129390272, LOC129390273, LOC129390274, LOC129390275, LOC129390276, LOC129390277, LOC129390278, LOC129390279, LOC130005435, LOC130005436, LOC130005437, LOC130005438, LOC130005439, LOC130005440, LOC130005441, LOC130005442, LOC130005443, LOC130005444, LOC130005445, LOC130005446, LOC130005447, LOC130005448, LOC130005449, LOC130005450, LOC130005451, LOC130005452, LOC130005453, LOC130005454, LOC130005455, LOC130005456, LOC130005457, LOC130005458, LOC130005459, LOC130005460, LOC130005461, LOC130005462, LOC130005463, LOC130005464, LOC130005465, LOC130005466, LOC130005467, LOC130005468, LOC130005469, LOC130005470, LOC130005471, LOC130005472, LOC130005473, LOC130005474, LOC130005475, LOC130005476, LOC130005477, LOC130005478, LOC130005479, LOC130005480, LOC130005481, LOC130005482, LOC130005483, LOC130005484, LOC130005485, LOC130005486, LOC130005487, LOC130005488, LOC130005489, LOC130005490, LOC130005491, LOC130005492, LOC130005493, LOC130005494, LOC130005495, LOC130005496, LOC130005497, LOC130005498, LOC130005499, LOC130005500, LOC130005501, LOC130005502, LOC130005503, LOC130005504, LOC130005505, LOC130005506, LOC130005507, LOC130005508, LOC130005509, LOC130005510, LOC130005511, LOC130005512, LOC130005513, LOC130005514, LOC130005515, LOC130005516, LOC130005517, LOC130005518, LOC130005519, LOC130005520, LOC130005521, LOC130005522, LOC130005523, LOC130005524, LOC130005525, LOC130005526, LOC130005527, LOC130005528, LOC130005529, LOC130005530, LOC130005531, LOC130005532, LOC130005533, LOC130005534, LOC130005535, LOC130005536, LOC130005537, LOC130005538, LOC130005539, LOC130005540, LOC130005541, LOC130005542, LOC130005543, LOC132089910, LOC132089911, LOC132089912, LOC132089913, LOC132089914, LOC132089915, LOC132089916, LOC132089917, LOC132089918, LOC132089919, LOC132089920, LOC132089921, LOC132089922, LOC132089923, LOC132089924, LOC132089925, LOC132089926, LOC132089928, LOC132089929, LOC132090835, LUZP2, METTL15, MIR610, MIR8054, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, NAV2, NELL1, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2, PAX6_HS3, PAX6_HS8, PRMT3, PRRG4, QSER1, RCN1, SLC17A6, SLC17A6-DT, SLC5A12, SLC6A5, SNORA88, SVIP, TCP11L1, WT1, WT1-AS | | See cases | Pathogenic (Aug 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:22571661-38220709
- GRCh38:
- Chr11:22550115-38199159
| PAX6_HS3, PAX6_HS8, PDHX, PRR5L, PRRG4, QSER1, RAG1, RAG2, RCN1, SLC1A2, SLC1A2-AS2, SLC5A12, SNORA88, SNORD164, SVIP, TCP11L1, TRAF6, TRIM44, WT1, WT1-AS, ABTB2, ANO3, ANO3-AS1, APIP, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD44, CD44-AS1, CD44-DT, CD59, COMMD9, CSTF3, CSTF3-DT, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FANCF, FBXO3, FBXO3-DT, FIBIN, FJX1, FSHB, GAS2, HIPK3, IFTAP, IMMP1L, KCNA4, KIAA1549L, KIF18A, LDLRAD3, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01616, LINC02546, LINC02686, LINC02699, LINC02707, LINC02718, LINC02721, LINC02722, LINC02726, LINC02742, LINC02755, LINC02758, LINC02760, LINC02859, LINC03031, LMO2, LOC101928385, LOC101928510, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC112067717, LOC112067718, LOC112081392, LOC112081393, LOC113939921, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC116216134, LOC121392907, LOC121392908, LOC121832789, LOC121832790, LOC124421508, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC124433244, LOC124433245, LOC124433246, LOC124433247, LOC126861162, LOC126861163, LOC126861164, LOC126861165, LOC126861166, LOC126861167, LOC126861168, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC126861181, LOC126861182, LOC126861183, LOC126861184, LOC126861185, LOC126861186, LOC126861187, LOC126861188, LOC126861189, LOC126861190, LOC126861191, LOC126861192, LOC126861193, LOC129390271, LOC129390272, LOC129390273, LOC129390274, LOC129390275, LOC129390276, LOC129390277, LOC129390278, LOC129390279, LOC130005443, LOC130005444, LOC130005445, LOC130005446, LOC130005447, LOC130005448, LOC130005449, LOC130005450, LOC130005451, LOC130005452, LOC130005453, LOC130005454, LOC130005455, LOC130005456, LOC130005457, LOC130005458, LOC130005459, LOC130005460, LOC130005461, LOC130005462, LOC130005463, LOC130005464, LOC130005465, LOC130005466, LOC130005467, LOC130005468, LOC130005469, LOC130005470, LOC130005471, LOC130005472, LOC130005473, LOC130005474, LOC130005475, LOC130005476, LOC130005477, LOC130005478, LOC130005479, LOC130005480, LOC130005481, LOC130005482, LOC130005483, LOC130005484, LOC130005485, LOC130005486, LOC130005487, LOC130005488, LOC130005489, LOC130005490, LOC130005491, LOC130005492, LOC130005493, LOC130005494, LOC130005495, LOC130005496, LOC130005497, LOC130005498, LOC130005499, LOC130005500, LOC130005501, LOC130005502, LOC130005503, LOC130005504, LOC130005505, LOC130005506, LOC130005507, LOC130005508, LOC130005509, LOC130005510, LOC130005511, LOC130005512, LOC130005513, LOC130005514, LOC130005515, LOC130005516, LOC130005517, LOC130005518, LOC130005519, LOC130005520, LOC130005521, LOC130005522, LOC130005523, LOC130005524, LOC130005525, LOC130005526, LOC130005527, LOC130005528, LOC130005529, LOC130005530, LOC130005531, LOC130005532, LOC130005533, LOC130005534, LOC130005535, LOC130005536, LOC130005537, LOC130005538, LOC130005539, LOC130005540, LOC130005541, LOC130005542, LOC130005543, LOC130005544, LOC130005545, LOC130005546, LOC130005547, LOC130005548, LOC130005549, LOC130005550, LOC130005551, LOC130005552, LOC130005553, LOC130005554, LOC130005555, LOC130005556, LOC130005557, LOC130005558, LOC130005559, LOC130005560, LOC130005561, LOC130005562, LOC130005563, LOC130005564, LOC130005565, LOC130005566, LOC130005567, LOC130005568, LOC130005569, LOC130005570, LOC130005571, LOC130005572, LOC130005573, LOC130005574, LOC130005575, LOC130005576, LOC130005577, LOC130005578, LOC130005579, LOC130005580, LOC130005581, LOC132089926, LOC132089928, LOC132089929, LOC132089932, LOC132089933, LOC132089934, LOC132089935, LOC132089936, LUZP2, METTL15, MIR1343, MIR3973, MIR610, MIR8054, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, PAMR1, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:26390509-35274523
- GRCh38:
- Chr11:26368962-35252976
| LOC129390275, LOC129390276, LOC129390277, LOC129390278, LOC129390279, LOC130005451, LOC130005452, LOC130005453, LOC130005454, LOC130005455, LOC130005456, LOC130005457, LOC130005458, LOC130005459, LOC130005460, LOC130005461, LOC130005462, LOC130005463, LOC130005464, LOC130005465, LOC130005466, LOC130005467, LOC130005468, LOC130005469, LOC130005470, LOC130005471, LOC130005472, LOC130005473, LOC130005474, LOC130005475, LOC130005476, LOC130005477, LOC130005478, LOC130005479, LOC130005480, LOC130005481, LOC130005482, LOC130005483, LOC130005484, LOC130005485, LOC130005486, LOC130005487, LOC130005488, LOC130005489, LOC130005490, LOC130005491, LOC130005492, LOC130005493, LOC130005494, LOC130005495, LOC130005496, LOC130005497, LOC130005498, LOC130005499, LOC130005500, LOC130005501, LOC130005502, LOC130005503, LOC130005504, LOC130005505, LOC130005506, LOC130005507, LOC130005508, LOC130005509, LOC130005510, LOC130005511, LOC130005512, LOC130005513, LOC130005514, LOC130005515, LOC130005516, LOC130005517, LOC130005518, LOC130005519, LOC130005520, LOC130005521, LOC130005522, LOC130005523, LOC130005524, LOC130005525, LOC130005526, LOC130005527, LOC130005528, LOC130005529, LOC130005530, LOC130005531, LOC130005532, LOC130005533, LOC130005534, LOC130005535, LOC130005536, LOC130005537, LOC130005538, LOC130005539, LOC130005540, LOC130005541, LOC130005542, LOC130005543, LOC130005544, LOC130005545, LOC130005546, LOC130005547, LOC130005548, LOC130005549, LOC130005550, LOC130005551, LOC130005552, LOC130005553, LOC130005554, LOC130005555, LOC130005556, LOC130005557, LOC130005558, LOC130005559, LOC130005560, LOC130005561, LOC130005562, LOC130005563, LOC132089928, LOC132089929, METTL15, MIR1343, MIR610, MIR8068, MIR8087, MPPED2, MPPED2-AS1, MUC15, NAT10, PAUPAR, PAX6, PAX6-AS1, PAX6DRR, PAX6_HS2, PAX6_HS3, PAX6_HS8, PDHX, PRRG4, QSER1, RCN1, SLC1A2, SLC5A12, SNORA88, SNORD164, TCP11L1, WT1, WT1-AS, ABTB2, ANO3, APIP, ARL14EP, ARL14EP-DT, BBOX1, BBOX1-AS1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC34, CCDC73, CD44, CD44-AS1, CD44-DT, CD59, CSTF3, CSTF3-DT, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FBXO3, FBXO3-DT, FIBIN, FSHB, HIPK3, IMMP1L, KCNA4, KIAA1549L, KIF18A, LGR4, LGR4-AS1, LIN7C, LINC00294, LINC00678, LINC01616, LINC02546, LINC02707, LINC02721, LINC02722, LINC02742, LINC02755, LINC02758, LINC02859, LINC03031, LMO2, LOC101928385, LOC105980003, LOC105980005, LOC105980073, LOC106007485, LOC106007493, LOC106014249, LOC106707172, LOC106707173, LOC107982234, LOC108178983, LOC108178984, LOC110120941, LOC110121388, LOC110121452, LOC112067717, LOC112067718, LOC112081392, LOC112081393, LOC116216130, LOC116216131, LOC116216132, LOC116216133, LOC116216134, LOC121392907, LOC124421509, LOC124421510, LOC124421511, LOC124421512, LOC124421513, LOC124421514, LOC124421515, LOC124421516, LOC124421517, LOC124433243, LOC124433244, LOC126861169, LOC126861170, LOC126861171, LOC126861172, LOC126861173, LOC126861174, LOC126861175, LOC126861176, LOC126861177, LOC126861178, LOC126861179, LOC126861180, LOC126861181, LOC126861182, LOC126861183, LOC126861184, LOC126861185, LOC126861186, LOC129390271, LOC129390272, LOC129390273, LOC129390274 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:33731675
- GRCh38:
- Chr11:33710129
| CD59 | | not provided | Likely benign (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731677
- GRCh38:
- Chr11:33710131
| CD59 | P128S | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731698
- GRCh38:
- Chr11:33710152
| CD59 | A121S | not provided | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731699
- GRCh38:
- Chr11:33710153
| CD59 | | not provided | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731718-33731720
- GRCh38:
- Chr11:33710172-33710174
| CD59 | L115del | not provided | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731731
- GRCh38:
- Chr11:33710185
| CD59 | K110Q | not provided | Uncertain significance (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731746
- GRCh38:
- Chr11:33710200
| CD59 | T105P | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:33731757
- GRCh38:
- Chr11:33710211
| CD59 | E101A | not provided | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731758
- GRCh38:
- Chr11:33710212
| CD59 | E101K | not provided | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731760
- GRCh38:
- Chr11:33710214
| CD59 | L100R | not provided | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731761
- GRCh38:
- Chr11:33710215
| CD59 | L100F | not provided | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731764-33731773
- GRCh38:
- Chr11:33710218-33710227
| CD59 | F96fs | Primary CD59 deficiency | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731767
- GRCh38:
- Chr11:33710221
| CD59 | E98Q | not provided | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731768
- GRCh38:
- Chr11:33710222
| CD59 | | not provided | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731771
- GRCh38:
- Chr11:33710225
| CD59 | F96L | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731793
- GRCh38:
- Chr11:33710247
| CD59 | C89Y | Primary CD59 deficiency | Pathogenic (Jan 3, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:33731804
- GRCh38:
- Chr11:33710258
| CD59 | | not provided | Likely benign (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731805
- GRCh38:
- Chr11:33710259
| CD59 | T85M | not provided | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731808
- GRCh38:
- Chr11:33710262
| CD59 | L84Q | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731826
- GRCh38:
- Chr11:33710280
| CD59 | R78P | not provided | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731827
- GRCh38:
- Chr11:33710281
| CD59 | R78C | not provided | Uncertain significance (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:33731836
- GRCh38:
- Chr11:33710290
| CD59 | V75I | not provided | Uncertain significance (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731837
- GRCh38:
- Chr11:33710291
| CD59 | | not provided | Benign (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731840
- GRCh38:
- Chr11:33710294
| CD59 | | not provided | Likely benign (Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731861
- GRCh38:
- Chr11:33710315
| CD59 | | not provided | Likely benign (Dec 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731869
- GRCh38:
- Chr11:33710323
| CD59 | C64G | Primary CD59 deficiency | Uncertain significance (May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731888
- GRCh38:
- Chr11:33710342
| CD59 | | not provided | Uncertain significance (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731888
- GRCh38:
- Chr11:33710342
| CD59 | | not provided | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731893
- GRCh38:
- Chr11:33710347
| CD59 | | not provided | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33731902
- GRCh38:
- Chr11:33710356
| CD59 | | not provided | Likely benign (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738893-33738896
- GRCh38:
- Chr11:33717347-33717350
| CD59 | | not provided | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738929
- GRCh38:
- Chr11:33717383
| CD59 | | not provided | Likely benign (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738935
- GRCh38:
- Chr11:33717389
| CD59 | | not provided | Likely benign (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:33738936
- GRCh38:
- Chr11:33717390
| CD59 | A50V | not provided | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738939
- GRCh38:
- Chr11:33717393
| CD59 | D49fs | Primary CD59 deficiency | Pathogenic (Jan 2, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:33738957
- GRCh38:
- Chr11:33717411
| CD59 | N43S | Inborn genetic diseases | Uncertain significance (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738959
- GRCh38:
- Chr11:33717413
| CD59 | | not provided | Benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738961
- GRCh38:
- Chr11:33717415
| CD59 | V42I | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738962
- GRCh38:
- Chr11:33717416
| CD59 | | not provided | Likely benign (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738962
- GRCh38:
- Chr11:33717416
| CD59 | V42fs | Primary CD59 deficiency | Pathogenic (Jan 3, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:33738986
- GRCh38:
- Chr11:33717440
| CD59 | | not provided | Likely benign (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33738987
- GRCh38:
- Chr11:33717441
| CD59 | N33T | Inborn genetic diseases, not provided | Uncertain significance (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:33738996
- GRCh38:
- Chr11:33717450
| CD59 | N30S | CD59-related condition | Uncertain significance (Dec 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33739000
- GRCh38:
- Chr11:33717454
| CD59 | Y29D | Primary CD59 deficiency | Uncertain significance (Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33739002
- GRCh38:
- Chr11:33717456
| CD59 | C28Y | Primary CD59 deficiency | Likely pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33739013
- GRCh38:
- Chr11:33717467
| CD59 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33739028
- GRCh38:
- Chr11:33717482
| CD59 | | not provided | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743938
- GRCh38:
- Chr11:33722392
| CD59 | | not provided | Benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743939
- GRCh38:
- Chr11:33722393
| CD59 | V18G | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743940
- GRCh38:
- Chr11:33722394
| CD59 | V18I | not provided | Uncertain significance (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743941
- GRCh38:
- Chr11:33722395
| CD59 | | not provided | Likely benign (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743949
- GRCh38:
- Chr11:33722403
| CD59 | V15I | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Aug 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:33743961
- GRCh38:
- Chr11:33722415
| CD59 | G11R | not provided | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743962
- GRCh38:
- Chr11:33722416
| CD59 | | not provided | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743969
- GRCh38:
- Chr11:33722423
| CD59 | V8A | not provided | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743974
- GRCh38:
- Chr11:33722428
| CD59 | | not provided | Benign (Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:33743991
- GRCh38:
- Chr11:33722445
| CD59 | M1V | not provided | Uncertain significance (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:31372721-38259316
| ABTB2, APIP, C11orf91, CAPRIN1, CAT, CCDC73, CD44, CD59, COMMD9, CSTF3, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FBXO3, FJX1, HIPK3, IFTAP, IMMP1L, KIAA1549L, LDLRAD3, LINC00294, LMO2, NAT10, PAMR1, PAX6, PDHX, PRR5L, PRRG4, QSER1, RAG1, RAG2, RCN1, SLC1A2, TCP11L1, TRAF6, TRIM44, WT1, WT1-AS | | not provided | Pathogenic (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:32799481-134938470
| GRIA4, GRIK4, GRK2, GRM5, GSTP1, GUCY1A2, H2AX, HARBI1, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HSD17B12, HSPA8, HSPB2, HTR3A, HTR3B, HYLS1, HYOU1, IFT46, IFTAP, IGHMBP2, IGSF9B, IL10RA, IL18, IL18BP, INCENP, INPPL1, INTS4, INTS5, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNE3, KCNJ1, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDLRAD3, LGALS12, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMO2, LOC100128088, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, MFRP, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR326, MIR34B, MIR34BHG, MIR34C, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NARS2, NAT10, NCAM1, NCAPD3, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NEU3, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRXN2, NTM, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, OMP, OOSP2, OPCML, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PATE1, PATE2, PATE3, PATE4, PATL1, PC, PCF11, PCNX3, PCSK7, PDE2A, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGM2L1, PGR, PHF21A, PHLDB1, PHOX2A, PICALM, PIH1D2, PITPNM1, PIWIL4, PKNOX2, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP1R32, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRPF19, PRR5L, PRRG4, PRSS23, PSMC3, PTGDR2, PTPMT1, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, RNF26, ROBO3, ROBO4, ROM1, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RSF1, RTN3, RTN4RL2, SAC3D1, SART1, SC5D, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCYL1, SESN3, SDHAF2, SDHD, SELENOH, SERPING1, SERPINH1, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPTBN2, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIP1, STT3A, STX3, STX5, SYT12, SYT13, SYT7, AAMDC, AASDHPPT, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, AP5B1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL2, ARRB1, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBS1, BCL9L, BCO2, BEST1, BIRC2, BIRC3, BLID, BRMS1, BSCL2, BSX, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf65, C11orf68, C11orf71, C11orf80, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CBL, CBLIF, CCDC15, CCDC153, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CDON, CELF1, CENATAC, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNIH2, CNTF, CNTN5, COA4, COMMD9, CORO1B, COX8A, CPSF7, CPT1A, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, DAGLA, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DLAT, DLG2, DNAJB13, DNAJC4, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, ELF5, ELMOD1, EML3, EMSY, ENDOD1, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TESMIN, TEX12, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TP53AIP1, TP53I11, TPBGL, TPCN2, TRAF6, TRAPPC4, TREH, TRIM29, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC36, TTC9C, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UNC93B1, UPK2, UQCC3, USP2, USP28, USP35, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WNT11, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF202, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10 | | MISSED ABORTION | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:32782607-36404823
| ABTB2, APIP, C11orf91, CAPRIN1, CAT, CD44, CD59, COMMD9, CSTF3, DEPDC7, EHF, ELF5, FBXO3, FJX1, HIPK3, KIAA1549L, LDLRAD3, LINC00294, LMO2, NAT10, PAMR1, PDHX, PRR5L, PRRG4, QSER1, SLC1A2, TCP11L1, TRIM44 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:11835569-118373112
| APOA1, APOA4, CAPRIN1, CARD16, CNIH2, CNTF, APOA5, APOC3, CARD17, CNTN5, COA4, F2, FADD, HOATZ, MAP6, MAPK8IP1, MARK2, NAALADL1, NADSYN1, NARS2, OR5AS1, PGA4, RASSF10, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RIN1, RNASEH2C, RNF121, RNF169, RNF214, ROM1, PGA5, PLAAT2, PGM2L1, PGR, PHF21A, PHOX2A, PICALM, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, OR5B12, OR5B17, OR5B2, OR5B3, OR5D16, OR5D18, OR5B21, OR5D13, OR5D14, OR5F1, OR5I1, OR5J2, NAT10, NAV2, NDUFV1, NDUFV1-DT, NDUFS3, NEAT1, NELL1, NCAM1, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS8, MIR34B, MIR610, MMP1, MMP10, MED17, MED19, MIR34BHG, MIR34C, MDK, ME3, MIR192, MIR194-2, MIR326, HTATIP2, HTR3A, HTR3B, IL18BP, IMMP1L, IFTAP, IGHMBP2, IGSF22, IL10RA, IL18, INCENP, INPPL1, INSC, HPS5, HSD17B12, HSPB2, FAM86C1P, FAM89B, FANCF, FAR1, FCHSD2, FAT3, FAU, FBXO3, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM168A, FAM180B, FAM181B, FAM76B, CRY2, CRYAB, CSKMT, CSRP3, COX8A, CREB3L1, CREBZF, COPB1, COMMD9, CORO1B, CPSF7, CPT1A, CATSPER1, CARNS1, CASP12, CASP4, CARD18, CATSPERZ, CASP1, CASP5, CAT, ARFGAP2, ARHGAP1, ARAP1, ARAP1-AS2, ARHGEF17-AS1, ARL14EP, AQP11, ARL2, ARHGAP20, ARHGAP42, ARHGEF17, ASRGL1, ATG13, ARRB1, AAMDC, AASDHPPT, ABCC8, ABTB2, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACTN3, ACY3, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, AP5B1, API5, APIP, APLNR, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT3, B3GNT6, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BATF2, BBOX1, BBS1, BCO2, BDNF, BDNF-AS, BEST1, BIRC2, BIRC3, BMAL1, BRMS1, BSCL2, BTBD10, BTBD18, BTG4, BUD13, C11orf24, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CBLIF, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCND1, CCS, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD82, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CELF1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHST1, CKAP5, CLCF1, CLDN25, CLNS1A, CLP1, CLPB, CST6, CSTF3, CSTPP1, CTNND1, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYB561A3, CYP2R1, DAGLA, DBX1, DCDC1, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DEFB108B, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DPF2, DPP3, DRAP1, DRD2, DSCAML1, DTX4, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EIF1AD, EIF3M, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, ESRRA, EXPH5, EXT2, FDX1, FDXACB1, FEN1, FERMT3, FGF19, FGF3, FGF4, FIBIN, FIBP, FJX1, FKBP2, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GANAB, GAS2, GDPD4, GDPD5, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRIA4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, HARBI1, HEPHL1, HIKESHI, HIPK3, HNRNPUL2, INTS4, INTS5, IZUMO1R, JAML, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ11, KCNK4, KCNK7, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LIPT2, LMO2, LOC100132686, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRN4CL, LRTOMT, LTBP3, LTO1, LUZP2, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MEN1, METTL15, MICAL2, MICALCL, MIR130A, MIR139, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRF, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL21, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MUC15, MUS81, NAALAD2, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NEU3, NKAPD1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OMP, OOSP2, OR10AG1, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AT4, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5T1, OR5T2, OR5T3, OR5W2, OR6Q1, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OTOG, OTUB1, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PARVA, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POU2AF1, POU2AF2, POU2AF3, PPFIA1, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RPS13, RPS3, RPS6KA4, RPS6KB2, RRAS2, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN4B, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIDT2, SIK2, SIK3, SIPA1, SLC15A3, SLC22A24, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMTNL1, SNHG1, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SOX6, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, STARD10, STIP1, STX3, STX5, SVIP, SYT12, SYT13, SYT7, SYTL2, SYVN1, TAF1D, TAF6L, TAGLN, TBC1D10C, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TENM4, TESMIN, TEX12, THAP12, THRSP, TIGD3, TIMM10, TIMM8B, TKFC, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TMEM86A, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TOP6BL, TP53I11, TPBGL, TPCN2, TPH1, TRAF6, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM51, TRIM64, TRIM64B, TRIM64C, TRIM77, TRMT112, TRPC6, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TTC12, TTC17, TTC9C, TUT1, TYR, UBE2L6, UBE4A, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UQCC3, USH1C, USP28, USP35, USP47, UVRAG, VEGFB, VPS37C, VPS51, VSTM5, VWCE, WDR74, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBTB16, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10 | | Intellectual disability | Pathogenic (Feb 25, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr11:33221821-34569417
| ELF5, FBXO3, ABTB2, HIPK3, NAT10, C11orf91, CAPRIN1, CAT, KIAA1549L, LMO2, CD59 | | not provided | Uncertain significance (Mar 16, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr11:11053978-34732891
| GALNT18, SAA1, GAS2, SAA2, GTF2H1, SAA2-SAA4, SAA4, SAAL1, TPH1, TSG101, SLC17A6, SLC5A12, SLC6A5, SOX6, SERGEF, SPON1, SPTY2D1, SVIP, TCP11L1, TEAD1, TMEM86A, KCNA4, KCNC1, KCNJ11, HPS5, HTATIP2, IGSF22, HIPK3, IMMP1L, INSC, ELF5, ELP4, FANCF, FAR1, FBXO3, FIBIN, FSHB, KIAA1549L, KIF18A, LDHA, LDHAL6A, LDHC, LGR4, LIN7C, LINC00294, LMO2, LUZP2, METTL15, MICAL2, MICALCL, MIR610, MPPED2, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MUC15, MYOD1, NAT10, NAV2, NCR3LG1, NELL1, NUCB2, OTOG, PARVA, PAX6, PDE3B, PIK3C2A, PLEKHA7, PRMT3, PRRG4, PSMA1, PTH, PTPN5, QSER1, RASSF10, RCN1, RPS13, RRAS2, UEVLD, USH1C, USP47, WT1, WT1-AS, ZDHHC13, ABCC8, ABTB2, ANO3, ANO5, ARL14EP, BBOX1, BDNF, BDNF-AS, BMAL1, BTBD10, C11orf58, C11orf91, CALCA, CALCB, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD59, COPB1, CSNK2A3, CSRP3, CSTF3, CYP2R1, DBX1, DCDC1, DEPDC7, DKK3, DNAJC24, E2F8, EHF, EIF3M | | not provided | Pathogenic (Sep 18, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:235934-33826995
| ABCC8, ADM, AKIP1, AMPD3, ANO3, ANO5, ANO9, AP2A2, APBB1, ARFIP2, ARL14EP, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BBOX1, BDNF, BDNF-AS, BMAL1, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, C11orf91, CALCA, CALCB, CARS1, CAVIN3, CCDC179, CCDC34, CCDC73, CCKBR, CD151, CD59, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CSRP3, CSTF3, CTR9, CTSD, CYB5R2, CYP2R1, DBX1, DCDC1, DCHS1, DEAF1, DENND2B, DENND5A, DEPDC7, DKK3, DNAJC24, DNHD1, DRD4, DUSP8, E2F8, EIF3F, EIF3M, EIF4G2, ELP4, EPS8L2, FANCF, FAR1, FBXO3, FHIP1B, FIBIN, FSHB, GALNT18, GAS2, GATD1, GTF2H1, H19, HBB, HBD, HBE1, HBG1, HBG2, HIPK3, HPS5, HPX, HRAS, HTATIP2, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, IGSF22, ILK, IMMP1L, INS, INS-IGF2, INSC, IPO7, IRAG1, IRF7, KCNA4, KCNC1, KCNJ11, KCNQ1, KCNQ1DN, KCNQ1OT1, KIAA1549L, KIF18A, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LDHA, LDHAL6A, LDHC, LGR4, LIN7C, LINC00294, LMNTD2, LMNTD2-AS1, LMO1, LRRC56, LSP1, LUZP2, LYVE1, METTL15, MICAL2, MICALCL, MIR210, MIR210HG, MIR610, MMP26, MOB2, MPPED2, MRGPRE, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MYOD1, NAP1L4, NAV2, NCR3LG1, NELL1, NLRP10, NLRP14, NLRP6, NRIP3, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PARVA, PHRF1, PAX6, PDE3B, PGAP2, PGGHG, PHLDA2, PIDD1, PIK3C2A, PKP3, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRMT3, PRRG4, PSMA1, PSMD13, PTDSS2, PTH, PTPN5, QSER1, RASSF10, RASSF7, RBMXL2, RCN1, RHOG, RIC3, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SCT, SCUBE2, SERGEF, SIGIRR, SIRT3, SLC17A6, SLC22A18, SLC22A18AS, SLC25A22, SLC5A12, SLC6A5, SMPD1, SNORA3B, SOX6, SPON1, SPTY2D1, STIM1, STK33, SVIP, SWAP70, SYT8, SYT9, TAF10, TALDO1, TCP11L1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TNNI2, TNNT3, TOLLIP, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, WT1, WT1-AS, ZBED5, ZDHHC13, ZNF143, ZNF195, ZNF214, ZNF215 | | not provided | Pathogenic (Oct 24, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr11:22079154-35597645
| ABTB2, ANO3, ANO5, APIP, ARL14EP, BBOX1, BDNF, BDNF-AS, C11orf91, CAPRIN1, CAT, CCDC179, CCDC34, CCDC73, CD44, CD59, CSTF3, DCDC1, DEPDC7, DNAJC24, EHF, EIF3M, ELF5, ELP4, FANCF, FBXO3, FIBIN, FSHB, GAS2, HIPK3, IMMP1L, KCNA4, KIAA1549L, KIF18A, LGR4, LIN7C, LINC00294, LMO2, LUZP2, METTL15, MIR610, MPPED2, MUC15, NAT10, PAMR1, PAX6, PDHX, PRRG4, QSER1, RCN1, SLC17A6, SLC1A2, SLC5A12, SVIP, TCP11L1, WT1, WT1-AS | | not provided | Pathogenic (Jun 30, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:70864-134938470
| CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CIMAP1A, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MICALCL, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B21, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5P2, OR5P3, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U3, OR9G1, OR9G4, OR9I1, OR9Q1, OR9Q2, OSBP, OSBPL5, OTOG, OTUB1, OVCH2, OVOL1, P2RX3, P2RY2, P2RY6, P4HA3, PAAF1, PACS1, PACSIN3, PAFAH1B2, PAK1, PAMR1, PANX1, PANX3, PARVA, PATE1, PATE2, PATE3, PATE4, PATL1, PAX6, PC, PCF11, PCNX3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PGA4, PGA5, PGAP2, PGGHG, PGM2L1, PGR, PHF21A, PHLDA2, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD1, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POGLUT3, POLA2, POLD3, POLD4, POLR2G, POLR2L, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPFIA1, PPFIBP2, PPME1, PPP1CA, PPP1R14B, PPP2R1B, PPP2R5B, PPP6R3, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRMT3, PRPF19, PRR5L, PRRG4, PRSS23, PSMA1, PSMC3, PSMD13, PTDSS2, PTGDR2, PTH, PTPMT1, PTPN5, PTPRCAP, PTPRJ, PTS, PUS3, PYGM, QSER1, RAB1B, RAB30, RAB38, RAB39A, RAB3IL1, RAB6A, RAD9A, RAG1, RAG2, RAPSN, RASGRP2, RASSF10, RASSF7, RBM14, RBM14-RBM4, RBM4, RBM4B, RBM7, RBMXL2, RCE1, RCN1, RCOR2, RDX, RELA, RELT, REXO2, RHOD, RHOG, RIC3, RIC8A, RIN1, RNASEH2C, RNF121, RNF141, RNF169, RNF214, RNF26, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPLP2, RPS13, RPS25, RPS3, RPS6KA4, RPS6KB2, RPUSD4, RRAS2, RRM1, RRP8, RSF1, RTN3, RTN4RL2, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SAC3D1, SART1, SAXO4, SBF2, SC5D, SCGB1A1, SCGB1C1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCN2B, SCN3B, SCN4B, SCT, SCUBE2, SCYL1, SDHAF2, SDHD, SELENOH, SERGEF, SERPING1, SERPINH1, SESN3, SF1, SF3B2, SHANK2, SIAE, SIDT2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC17A6, SLC1A2, SLC22A10, SLC22A11, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A22, SLC25A45, SLC29A2, SLC35C1, SLC35F2, SLC36A4, SLC37A2, SLC37A4, SLC39A13, SLC3A2, SLC43A1, SLC43A3, SLC5A12, SLC6A5, SLCO2B1, SLN, SMCO4, SMPD1, SMTNL1, SNHG1, SNORA3B, SNORD15A, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX19, SNX32, SORL1, SOX6, SPA17, SPATA19, SPCS2, SPDYC, SPI1, SPINDOC, SPON1, SPTBN2, SPTY2D1, SRPRA, SRSF8, SSH3, SSRP1, ST14, ST3GAL4, STARD10, STIM1, STIP1, STK33, STT3A, STX3, STX5, SVIP, SWAP70, SYT12, SYT13, SYT7, SYT8, SYT9, SYTL2, SYVN1, TAF10, TAF1D, TAF6L, TAGLN, TALDO1, TBC1D10C, TBCEL, TBRG1, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TESMIN, TEX12, TH, THAP12, THRSP, THY1, THYN1, TIGD3, TIMM10, TIMM10B, TIMM8B, TIRAP, TKFC, TLCD5, TM7SF2, TMEM109, TMEM123, TMEM126A, TMEM126B, TMEM132A, TMEM133, TMEM134, TMEM135, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM218, TMEM223, TMEM225, TMEM25, TMEM258, TMEM41B, TMEM45B, TMEM80, TMEM86A, TMEM9B, TMPRSS13, TMPRSS4, TMPRSS5, TMX2, TNKS1BP1, TNNI2, TNNT3, TOLLIP, TOP6BL, TP53AIP1, TP53I11, TPBGL, TPCN2, TPH1, TPP1, TRAF6, TRAPPC4, TREH, TRIM21, TRIM22, TRIM29, TRIM3, TRIM34, TRIM44, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM49D2, TRIM5, TRIM51, TRIM6, TRIM64, TRIM64B, TRIM64C, TRIM66, TRIM68, TRIM77, TRMT112, TRPC6, TRPM5, TRPT1, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC36, TTC9C, TUB, TUT1, TYR, UBASH3B, UBE2L6, UBE4A, UBQLN3, UBQLNL, UBTFL1, UBXN1, UCP2, UCP3, UEVLD, UNC93B1, UPK2, UQCC3, USH1C, USP2, USP28, USP35, USP47, UVRAG, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VSIG2, VSTM5, VWA5A, VWCE, WDR74, WEE1, WNT11, WT1, WT1-AS, XRRA1, YAP1, YIF1A, YPEL4, ZBED5, ZBTB16, ZBTB3, ZBTB44, ZC3H12C, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZFPL1, ZFTA, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNF408, ZNF705E, ZNHIT2, ZNRD2, ZP1, ZPR1, ZW10, AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP126, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:25196998-34196484
| CAPRIN1, IMMP1L, ELP4, ABTB2, TCP11L1, QSER1, FBXO3, LGR4, CCDC73, SLC5A12, MPPED2, DEPDC7, LINC00294, HIPK3, BDNF, MUC15, METTL15, C11orf91, RCN1, FSHB, KCNA4, DCDC1, DNAJC24, PAX6, BDNF-AS, MIR610, FIBIN, ARL14EP, LIN7C, BBOX1, CD59, KIAA1549L, PRRG4, CCDC34, KIF18A, WT1, LMO2, CSTF3, NAT10, ANO3, EIF3M, WT1-AS | | not provided | Pathogenic (Mar 23, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr11:24469451-37524085
| LGR4, RCN1, MIR610, LUZP2, PRRG4, MPPED2, RAG2, ABTB2, TRAF6, ARL14EP, WT1, FBXO3, CCDC73, LIN7C, IFTAP, TCP11L1, LMO2, PDHX, FJX1, ANO3, BBOX1, KIF18A, COMMD9, CCDC34, MUC15, WT1-AS, CSTF3, EHF, FIBIN, EIF3M, SLC5A12, CD44, C11orf91, CD59, PAX6, SLC1A2, BDNF-AS, FSHB, DCDC1, LINC00294, PAMR1, RAG1, LDLRAD3, KCNA4, NAT10, ELF5, BDNF, PRR5L, QSER1, DNAJC24, KIAA1549L, CAPRIN1, HIPK3, DEPDC7, CAT, IMMP1L, METTL15, TRIM44, APIP, ELP4 | | not provided | Pathogenic (Nov 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr11:198510-134934063
| AAMDC, AASDHPPT, ABCC8, ABCG4, ABTB2, ACAD8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACRV1, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADM, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMOTL1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APBB1, API5, APIP, APLNR, APLP2, APOA1, APOA4, APOA5, APOC3, AQP11, ARAP1, ARAP1-AS2, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARHGEF17-AS1, ARL14EP, ARL2, ARRB1, ART1, ART5, ASCL2, ASCL3, ASRGL1, ATG13, ATG16L2, ATG2A, ATL3, ATM, ATP5MG, B3GAT1, B3GAT3, B3GNT6, B4GALNT4, B4GAT1, BACE1, BACE1-AS, BAD, BANF1, BARX2, BATF2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BDNF-AS, BEST1, BET1L, BIRC2, BIRC3, BLID, BMAL1, BRMS1, BRSK2, BSCL2, BSX, BTBD10, BTBD18, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf40, C11orf42, C11orf52, C11orf54, C11orf58, C11orf65, C11orf68, C11orf71, C11orf86, C11orf87, C11orf91, C11orf96, C1QTNF4, C1QTNF5, C2CD2L, C2CD3, CABP2, CABP4, CADM1, CALCA, CALCB, CAPN1, CAPN5, CAPRIN1, CARD16, CARD17, CARD18, CARNS1, CARS1, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CATSPERZ, CAVIN3, CBL, CBLIF, CCDC15, CCDC153, CCDC179, CCDC34, CCDC73, CCDC81, CCDC82, CCDC83, CCDC85B, CCDC86, CCDC87, CCDC88B, CCDC89, CCDC90B, CCKBR, CCND1, CCS, CD151, CD248, CD3D, CD3E, CD3G, CD44, CD5, CD59, CD6, CD81, CD82, CDC42BPG, CDC42EP2, CDCA5, CDHR5, CDK2AP2, CEP126, CDKN1C, CDON, CELF1, CENATAC, CEND1, CEP164, CEP295, CEP57, CFAP300, CFAP68, CFL1, CHEK1, CHID1, CHKA, CHORDC1, CHRDL2, CHRM1, CHRM4, CHRNA10, CHST1, CIMAP1A, CKAP5, CLCF1, CLDN25, CLMP, CLNS1A, CLP1, CLPB, CNGA4, CNIH2, CNTF, CNTN5, COA4, COMMD9, COPB1, CORO1B, COX8A, CPSF7, CPT1A, CRACR2B, CREB3L1, CREBZF, CRTAM, CRY2, CRYAB, CSKMT, CSNK2A3, CSRP3, CST6, CSTF3, CSTPP1, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CXCR5, CYB561A3, CYB5R2, CYP2R1, DAGLA, DBX1, DCDC1, DCHS1, DCPS, DCUN1D5, DDB1, DDB2, DDI1, DDIAS, DDX10, DDX25, DDX6, DEAF1, DEFB108B, DENND2B, DENND5A, DEPDC7, DEUP1, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DLG2, DNAJB13, DNAJC24, DNAJC4, DNHD1, DPAGT1, DPF2, DPP3, DRAP1, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EED, EEF1G, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF1AD, EIF3F, EIF3M, EIF4G2, ELF5, ELMOD1, ELP4, EML3, EMSY, ENDOD1, EPS8L2, ESAM, ESRRA, ETS1, EXPH5, EXT2, F2, FADD, FADS1, FADS2, FADS3, FAM111A, FAM111B, FAM118B, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1P, FAM89B, FANCF, FAR1, FAT3, FAU, FBXO3, FCHSD2, FDX1, FDXACB1, FEN1, FERMT3, FEZ1, FGF19, FGF3, FGF4, FHIP1B, FIBIN, FIBP, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOLH1B, FOLR1, FOLR2, FOLR3, FOSL1, FOXR1, FOXRED1, FREY1, FRMD8, FSHB, FTH1, FUT4, FXYD2, FXYD6, FXYD6-FXYD2, FZD4, GAB2, GAL, GAL3ST3, GALNT18, GANAB, GAS2, GATD1, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL1, GLYATL2, GNG3, GPHA2, GPR137, GPR152, GPR83, GRAMD1B, GRIA4, GRIK4, GRK2, GRM5, GSTP1, GTF2H1, GUCY1A2, H19, H2AX, HARBI1, HBB, HBD, HBE1, HBG1, HBG2, HEPACAM, HEPHL1, HEPN1, HIKESHI, HINFP, HIPK3, HMBS, HNRNPUL2, HOATZ, HPS5, HPX, HRAS, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IFTAP, IGF2, IGF2-AS, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, IL18BP, ILK, IMMP1L, INCENP, INPPL1, INS, INS-IGF2, INSC, INTS4, INTS5, IPO7, IRAG1, IRF7, IZUMO1R, JAM3, JAML, JHY, JRKL, KAT5, KBTBD3, KBTBD4, KCNA4, KCNC1, KCNE3, KCNJ1, KCNJ11, KCNJ5, KCNJ5-AS1, KCNK4, KCNK7, KCNQ1, KCNQ1DN, KCNQ1OT1, KCTD14, KCTD21, KDM2A, KDM4D, KDM4E, KIAA1549L, KIF18A, KIRREL3, KLC2, KLHL35, KMT2A, KMT5B, KRTAP5-1, KRTAP5-10, KRTAP5-11, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LARGE2, LAYN, LBHD1, LDHA, LDHAL6A, LDHC, LDLRAD3, LGALS12, LGR4, LIN7C, LINC00294, LINC02714, LINC02743, LINC02873, LIPT2, LMNTD2, LMNTD2-AS1, LMO1, LMO2, LOC100132686, LOC101929473, LPXN, LRFN4, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC55, LRRC56, LRRN4CL, LRTOMT, LSP1, LTBP3, LTO1, LUZP2, LYVE1, MACROD1, MADD, MADD-AS1, MAJIN, MALAT1, MAML2, MAP3K11, MAP4K2, MAP6, MAPK8IP1, MARK2, MCAM, MDK, ME3, MED17, MED19, MEN1, METTL15, MFRP, MICAL2, MICALCL, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR210HG, MIR326, MIR34B, MIR34BHG, MIR34C, MIR610, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP26, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPPED2, MPZL2, MPZL3, MRE11, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL16, MRPL17, MRPL21, MRPL23, MRPL48, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MSANTD2, MSANTD4, MTA2, MTCH2, MTMR2, MTNR1B, MTRNR2L8, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYOD1, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NDUFC2-KCTD14, NDUFS3, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NECTIN1, NELL1, NEU3, NFRKB, NHERF4, NKAPD1, NLRP10, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAS4, NPAT, NR1H3, NRGN, NRIP3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OMP, OOSP2, OPCML, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D10, OR4D11, OR4D5, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, |