| - GRCh37:
- Chr11:75652798-98228688
- GRCh38:
- Chr11:75941754-98357960
| CHORDC1, GDPD4, GPR83, LINC02728, LINC02734, LINC02737, LOC112136093, LOC112136095, LOC112136096, LOC112136097, LOC114827859, LOC116225295, LOC116225296, LOC116225297, LOC116225298, LOC116225299, LOC116216156, LOC116216157, LOC116216158, LOC116225292, LOC116225293, LOC116225294, LOC116225300, LOC116225301, LOC121392931, LOC121392932, LOC121392933, LINC02746, LINC02748, LINC02756, LINC02757, LOC101929174, LOC107080646, IZUMO1R, JRKL, JRKL-AS1, KCTD14, KCTD21, KCTD21-AS1, KDM4D, KDM4E, KDM4F, LINC02553, LINC02700, LOC112136090, LOC112136091, LINC02951, LINC03030, LNCRNA-IUR, LOC100129203, LOC101928896, LOC108281118, LOC110121365, LOC111591509, LOC111721716, LOC112136088, LOC112136089, CLNS1A, DDIAS, DEUP1, DISC1FP1, CWC15, FAT3, FOLH1B, CREBZF, CTSC, FAM181B, FAM76B, FUT4, FZD4, FZD4-DT, GAB2, GRM5, GRM5-AS1, LINC02711, LINC02713, LINC02720, GVQW3, HEPHL1, HIKESHI, INTS4, ANKRD49, AQP11, B3GNT6, C11orf54, C11orf97, CAPN5, CCDC81, ALG8, AMOTL1, ANKRD42, AAMDC, ACER3, ANKRD42-DT, CCDC82, CCDC83, CCDC89, CCDC90B, CCDC90B-AS1, CEP295, CEP57, DLG2, DLG2-AS2, EED, EMSY, EMSY-DT, ENDOD1, LOC121392934, LOC121392935, LOC121832800, LOC121832801, LOC121832817, LOC121832818, LOC124500693, LOC124500694, LOC124500695, LOC124500696, LOC124500697, LOC124500698, LOC124500699, LOC124500702, LOC124500703, LOC124500704, LOC124500705, LOC124500706, LOC124500707, LOC124500708, LOC124500709, LOC124500710, LOC124500711, LOC124544574, LOC124544575, LOC124544577, LOC124544578, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC124902727, LOC126861269, LOC126861270, LOC126861271, LOC126861272, LOC126861273, LOC126861274, LOC126861275, LOC126861276, LOC126861277, LOC126861278, LOC126861279, LOC126861280, LOC126861281, LOC126861282, LOC126861283, LOC126861284, LOC126861285, LOC126861286, LOC126861287, LOC126861288, LOC126861289, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LOC129390311, LOC129390312, LOC129390313, LOC129390314, LOC129390315, LOC129390316, LOC129390317, LOC129390318, LOC129390319, LOC129390320, LOC129390321, LOC129390322, LOC129390323, LOC129390324, LOC129390325, LOC129390326, LOC129390327, LOC129390328, LOC129390329, LOC129390330, LOC129390331, LOC129390332, LOC129390333, LOC129390334, LOC130006447, LOC130006448, LOC130006449, LOC130006450, LOC130006451, LOC130006452, LOC130006453, LOC130006454, LOC130006455, LOC130006456, LOC130006457, LOC130006458, LOC130006459, LOC130006460, LOC130006461, LOC130006462, LOC130006463, LOC130006464, LOC130006465, LOC130006466, LOC130006467, LOC130006468, LOC130006469, LOC130006470, LOC130006471, LOC130006472, LOC130006473, LOC130006474, LOC130006475, LOC130006476, LOC130006477, LOC130006478, LOC130006479, LOC130006480, LOC130006481, LOC130006482, LOC130006483, LOC130006484, LOC130006485, LOC130006486, LOC130006487, LOC130006488, LOC130006489, LOC130006490, LOC130006491, LOC130006492, LOC130006493, LOC130006494, LOC130006495, LOC130006496, LOC130006497, LOC130006498, LOC130006499, LOC130006500, LOC130006501, LOC130006502, LOC130006503, LOC130006504, LOC130006505, LOC130006506, LOC130006507, LOC130006508, LOC130006509, LOC130006510, LOC130006511, LOC130006512, LOC130006513, LOC130006514, LOC130006515, LOC130006516, LOC130006517, LOC130006518, LOC130006519, LOC130006520, LOC130006521, LOC130006522, LOC130006523, LOC130006524, LOC130006525, LOC130006526, LOC130006527, LOC130006528, LOC130006529, LOC130006530, LOC130006531, LOC130006532, LOC130006533, LOC130006534, LOC130006535, LOC130006536, LOC130006537, LOC130006538, LOC130006539, LOC130006540, LOC130006541, LOC130006542, LOC130006543, LOC130006544, LOC130006545, LOC130006546, LOC130006547, LOC130006548, LOC130006549, LOC130006550, LOC130006551, LOC130006552, LOC130006553, LOC130006554, LOC130006555, LOC130006556, LOC130006557, LOC130006558, LOC130006559, LOC130006560, LOC130006561, LOC130006562, LOC130006563, LOC130006564, LOC130006565, LOC130006566, LOC130006567, LOC130006568, LOC130006569, LOC130006570, LOC130006571, LOC130006572, LOC130006573, LOC130006574, LOC130006575, LOC130006576, LOC130006577, LOC130006578, LOC130006579, LOC130006580, LOC130006581, LOC130006582, LOC130006583, LOC130006584, LOC130006585, LOC130006586, LOC130006587, LOC130006588, LOC130006589, LOC130006590, LOC130006591, LOC130006592, LOC130006593, LOC130006594, LOC130006595, LOC130006596, LOC130006597, LOC130006598, LOC130006599, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, LOC130006622, LOC130006623, LOC130006624, LOC130006625, LOC130006626, LOC130006627, LOC130006628, LOC130006629, LOC130006630, LOC130006631, LOC132089943, LOC132089944, LOC132089945, LRRC32, MAML2, ME3, ME3-DT, MED17, MIR1260B, MIR1261, MIR1304, MIR3166, MIR4300, MIR4300HG, MIR4490, MIR548L, MIR5579, MIR6755, MIR708, MRE11, MTMR2, MTNR1B, MYO7A, NAALAD2, NARS2, NDUFC2, NDUFC2-KCTD14, NOX4, OMP, PAK1, PANX1, PCF11, PCF11-AS1, PICALM, PIWIL4, PIWIL4-AS1, PRCP, PRSS23, PRSS23-AS1, RAB30, RAB30-DT, RAB38, RSF1, RSF1-IT1, SCARNA9, SESN3, SLC36A4, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA70E, SNORA8, SNORD5, SNORD6, SRSF8, SYTL2, TAF1D, TENM4, THAP12, THRSP, TMEM126A, TMEM126B, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TRP-AGG2-4, TRP-TGG2-1, TSKU, TSKU-AS1, TYR, UBTFL1, USP35, UVRAG, VSTM5, WNT11 | | See cases | Pathogenic (Dec 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr11:77943882-106650146
- GRCh38:
- Chr11:78232836-106779420
| LINC02553, LINC02700, LINC02711, LINC02713, LINC02719, LINC02720, LINC02728, LINC02734, LINC02737, LINC02746, LINC02748, LINC02756, LINC02951, LNCRNA-IUR, LOC100129203, LOC101928535, LOC101928896, LOC101929174, LOC102723838, LOC107080646, LOC108281118, LOC111591509, LOC111721716, LOC111982889, LOC112136091, LOC112136093, LOC112136095, LOC112136096, LOC112136097, LOC114827859, LOC116225292, LOC116225293, LOC116225294, LOC116225295, LOC116225296, LOC116225297, LOC116225298, LOC116225299, LOC116225300, LOC116225301, LOC121392932, LOC121392933, LOC121392934, LOC121392935, LOC121392936, LOC121392937, LOC121832817, LOC121832818, LOC121832819, LOC124500698, LOC124500699, LOC124500702, LOC124500703, LOC124500704, LOC124500705, LOC124500706, LOC124500707, LOC124500708, LOC124500709, LOC124500710, LOC124500711, LOC124544574, LOC124544575, LOC124544577, LOC124544578, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC124625824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124902727, LOC126861272, LOC126861273, LOC126861274, LOC126861275, LOC126861276, LOC126861277, LOC126861278, LOC126861279, LOC126861280, LOC126861281, LOC126861282, LOC126861283, LOC126861284, LOC126861285, LOC126861286, LOC126861287, LOC126861288, LOC126861289, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LOC126861310, LOC126861311, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC129390317, LOC129390318, LOC129390319, LOC129390320, LOC129390321, LOC129390322, LOC129390323, LOC129390324, LOC129390325, LOC129390326, LOC129390327, LOC129390328, LOC129390329, LOC129390330, LOC129390331, LOC129390332, LOC129390333, LOC129390334, LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339, LOC129390340, LOC129390341, LOC129390342, LOC129390343, LOC129390344, LOC129390345, LOC129390346, LOC129390347, LOC129390348, LOC129390349, LOC129390350, LOC130006499, LOC130006500, LOC130006501, LOC130006502, LOC130006503, LOC130006504, LOC130006505, LOC130006506, LOC130006507, LOC130006508, LOC130006509, LOC130006510, LOC130006511, LOC130006512, LOC130006513, LOC130006514, LOC130006515, LOC130006516, LOC130006517, LOC130006518, LOC130006519, LOC130006520, LOC130006521, LOC130006522, LOC130006523, LOC130006524, LOC130006525, LOC130006526, LOC130006527, LOC130006528, LOC130006529, LOC130006530, LOC130006531, LOC130006532, LOC130006533, LOC130006534, LOC130006535, LOC130006536, LOC130006537, LOC130006538, LOC130006539, LOC130006540, LOC130006541, LOC130006542, LOC130006543, LOC130006544, LOC130006545, LOC130006546, LOC130006547, LOC130006548, LOC130006549, LOC130006550, LOC130006551, LOC130006552, LOC130006553, LOC130006554, LOC130006555, LOC130006556, LOC130006557, LOC130006558, LOC130006559, LOC130006560, LOC130006561, LOC130006562, LOC130006563, LOC130006564, LOC130006565, LOC130006566, LOC130006567, LOC130006568, LOC130006569, LOC130006570, LOC130006571, LOC130006572, LOC130006573, LOC130006574, LOC130006575, LOC130006576, LOC130006577, LOC130006578, LOC130006579, LOC130006580, LOC130006581, LOC130006582, LOC130006583, LOC130006584, LOC130006585, LOC130006586, LOC130006587, LOC130006588, LOC130006589, LOC130006590, LOC130006591, LOC130006592, LOC130006593, LOC130006594, LOC130006595, LOC130006596, LOC130006597, LOC130006598, LOC130006599, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, LOC130006622, LOC130006623, LOC130006624, LOC130006625, LOC130006626, LOC130006627, LOC130006628, LOC130006629, LOC130006630, LOC130006631, LOC130006632, LOC130006633, LOC130006634, LOC130006635, LOC130006636, LOC130006637, LOC130006638, LOC130006639, LOC130006640, LOC130006641, LOC130006642, LOC130006643, LOC130006644, LOC130006645, LOC130006646, LOC130006647, LOC130006648, LOC130006649, LOC130006650, LOC130006651, LOC130006652, LOC130006653, LOC130006654, LOC130006655, LOC130006656, LOC130006657, LOC130006658, LOC130006659, LOC130006660, LOC130006661, LOC130006662, LOC130006663, LOC130006664, LOC130006665, LOC130006666, LOC130006667, LOC130006668, LOC130006669, LOC130006670, LOC130006671, LOC130006672, LOC130006673, LOC130006674, LOC130006675, LOC130006676, LOC130006677, LOC130006678, LOC130006679, LOC130006680, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089943, LOC132089944, LOC132089945, LOC132089946, LOC132089947, LOC132089948, LOC132089949, LOC132089950, LOC132089951, LOC132089952, LOC132089953, LOC132089954, LOC132089955, LOC132089956, LOC132090839, LOC132090840, MAML2, ME3, ME3-DT, MED17, MIR1260B, MIR1261, MIR1304, MIR3166, MIR3920, MIR4300, MIR4300HG, MIR4490, MIR4693, MIR548L, MIR5579, MIR6755, MIR708, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, MTNR1B, NAALAD2, NARS2, NOX4, PANX1, PCF11, PCF11-AS1, PDGFD, PDGFDDN, PGR, PGR-AS1, PICALM, PIWIL4, PIWIL4-AS1, PRCP, PRSS23, PRSS23-AS1, RAB30, RAB30-DT, RAB38, SCARNA9, SESN3, SLC36A4, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA70E, SNORA8, SNORD13I, SNORD5, SNORD6, SRSF8, SYTL2, TAF1D, TENM4, TMEM123, TMEM123-DT, TMEM126A, TMEM126B, TMEM133, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TRPC6, TYR, UBTFL1, USP35, VSTM5, YAP1, ARHGAP42, ARHGAP42-AS1, ANKRD42, ANKRD42-DT, ANKRD49, BIRC2, BIRC3, AASDHPPT, AMOTL1, ANGPTL5, C11orf54, C11orf97, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC81, CCDC82, CCDC83, CCDC89, CCDC90B, CCDC90B-AS1, CEP126, CEP295, CEP57, CFAP300, CHORDC1, CNTN5, CREBZF, CTSC, CWC15, DCUN1D5, DDI1, DDIAS, DEUP1, DISC1FP1, DLG2, DLG2-AS2, DYNC2H1, EED, ENDOD1, FAM181B, FAM76B, FAT3, FOLH1B, FUT4, FZD4, FZD4-DT, GAB2, GPR83, GRIA4, GRM5, GRM5-AS1, GUCY1A2, HEPHL1, HIKESHI, IZUMO1R, JRKL, JRKL-AS1, KBTBD3, KDM4D, KDM4E, KDM4F, LINC02552 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:84953891-102738968
- GRCh38:
- Chr11:85242847-102920097
| LOC101929174, LOC102723838, LOC107080646, LOC111591509, LOC111982889, LOC112136093, LOC112136095, LOC112136096, LOC112136097, LOC114827859, LOC116225292, LOC116225293, LOC116225294, LOC116225295, LOC116225296, LOC116225297, LOC116225298, LOC116225299, LOC116225300, LOC116225301, LOC121392933, LOC121392934, LOC121392935, LOC121392936, LOC121832818, LOC121832819, LOC124500703, LOC124500704, LOC124500705, LOC124500706, LOC124500707, LOC124500708, LOC124500709, LOC124500710, LOC124500711, LOC124544574, LOC124544575, LOC124544577, LOC124544578, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC124625824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC126861282, LOC126861283, LOC126861284, LOC126861285, LOC126861286, LOC126861287, LOC126861288, LOC126861289, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LOC126861310, LOC126861311, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC129390318, LOC129390319, LOC129390320, LOC129390321, LOC129390322, LOC129390323, LOC129390324, LOC129390325, LOC129390326, LOC129390327, LOC129390328, LOC129390329, LOC129390330, LOC129390331, LOC129390332, LOC129390333, LOC129390334, LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339, LOC129390340, LOC129390341, LOC129390342, LOC129390343, LOC129390344, LOC129390345, LOC129390346, LOC129390347, LOC130006545, LOC130006546, LOC130006547, LOC130006548, LOC130006549, LOC130006550, LOC130006551, LOC130006552, LOC130006553, LOC130006554, LOC130006555, LOC130006556, LOC130006557, LOC130006558, LOC130006559, LOC130006560, LOC130006561, LOC130006562, LOC130006563, LOC130006564, LOC130006565, LOC130006566, LOC130006567, LOC130006568, LOC130006569, LOC130006570, LOC130006571, LOC130006572, LOC130006573, LOC130006574, LOC130006575, LOC130006576, LOC130006577, LOC130006578, LOC130006579, LOC130006580, LOC130006581, LOC130006582, LOC130006583, LOC130006584, LOC130006585, LOC130006586, LOC130006587, LOC130006588, LOC130006589, LOC130006590, LOC130006591, LOC130006592, LOC130006593, LOC130006594, LOC130006595, LOC130006596, LOC130006597, LOC130006598, LOC130006599, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, LOC130006622, LOC130006623, LOC130006624, LOC130006625, LOC130006626, LOC130006627, LOC130006628, LOC130006629, LOC130006630, LOC130006631, LOC130006632, LOC130006633, LOC130006634, LOC130006635, LOC130006636, LOC130006637, LOC130006638, LOC130006639, LOC130006640, LOC130006641, LOC130006642, LOC130006643, LOC130006644, LOC130006645, LOC130006646, LOC130006647, LOC130006648, LOC130006649, LOC130006650, LOC130006651, LOC130006652, LOC130006653, LOC130006654, LOC130006655, LOC130006656, LOC130006657, LOC130006658, LOC130006659, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089943, LOC132089944, LOC132089945, LOC132089946, LOC132089947, LOC132089948, LOC132089949, LOC132089950, LOC132089951, LOC132089952, LOC132089953, LOC132089954, LOC132089955, LOC132089956, LOC132090839, LOC132090840, MAML2, ME3, ME3-DT, MED17, MIR1260B, MIR1261, MIR1304, MIR3166, MIR3920, MIR4490, MIR548L, MIR6755, MMP1, MMP10, MMP12, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MRE11, MTMR2, MTNR1B, NAALAD2, NOX4, PANX1, PGR, PGR-AS1, PICALM, PIWIL4, PIWIL4-AS1, PRSS23, PRSS23-AS1, RAB38, SCARNA9, SESN3, SLC36A4, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA8, SNORD13I, SNORD5, SNORD6, SRSF8, SYTL2, TAF1D, TMEM123, TMEM123-DT, TMEM126A, TMEM126B, TMEM133, TMEM135, TRIM49, TRIM49C, TRIM49D1, TRIM49D2, TRIM64, TRIM64B, TRIM77, TRPC6, TYR, UBTFL1, VSTM5, YAP1, AMOTL1, ANGPTL5, ANKRD49, ARHGAP42, ARHGAP42-AS1, BIRC2, BIRC3, C11orf54, C11orf97, CCDC81, CCDC82, CCDC83, CCDC89, CEP126, CEP295, CEP57, CFAP300, CHORDC1, CNTN5, CREBZF, CTSC, CWC15, DEUP1, DISC1FP1, DLG2, EED, ENDOD1, FAM76B, FAT3, FOLH1B, FUT4, FZD4, FZD4-DT, GPR83, GRM5, GRM5-AS1, HEPHL1, HIKESHI, IZUMO1R, JRKL, JRKL-AS1, KDM4D, KDM4E, KDM4F, LINC02553, LINC02700, LINC02711, LINC02713, LINC02737, LINC02746, LINC02748, LINC02756, LNCRNA-IUR, LOC100129203 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:90819827-109466308
- GRCh38:
- Chr11:91086659-109595582
| AASDHPPT, ACAT1, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP42, ARHGAP42-AS1, ATM, BIRC2, BIRC3, C11orf54, C11orf65, C11orf87, C11orf97, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP295, CEP57, CFAP300, CNTN5, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DEUP1, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FAT3, FUT4, GPR83, GRIA4, GUCY1A2, HEPHL1, IZUMO1R, JRKL, JRKL-AS1, KBTBD3, KDM4D, KDM4E, KDM4F, LINC02552, LINC02553, LINC02700, LINC02713, LINC02719, LINC02737, LINC02746, LINC02748, LINC02756, LNCRNA-IUR, LOC100129203, LOC101928535, LOC102723838, LOC106865368, LOC111591509, LOC111982889, LOC112136095, LOC112136096, LOC112136097, LOC114827859, LOC116225301, LOC121392934, LOC121392935, LOC121392936, LOC121392937, LOC121392938, LOC121832819, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC124625824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124625831, LOC124625832, LOC124625833, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LOC126861310, LOC126861311, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC126861328, LOC126861329, LOC126861330, LOC126861331, LOC128772354, LOC128772355, LOC128772356, LOC128772357, LOC128772358, LOC128772359, LOC128772360, LOC128772361, LOC128772362, LOC128772363, LOC129390328, LOC129390329, LOC129390330, LOC129390331, LOC129390332, LOC129390333, LOC129390334, LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339, LOC129390340, LOC129390341, LOC129390342, LOC129390343, LOC129390344, LOC129390345, LOC129390346, LOC129390347, LOC129390348, LOC129390349, LOC129390350, LOC129390351, LOC129390352, LOC129390353, LOC129390354, LOC129390355, LOC129390356, LOC129390357, LOC130006579, LOC130006580, LOC130006581, LOC130006582, LOC130006583, LOC130006584, LOC130006585, LOC130006586, LOC130006587, LOC130006588, LOC130006589, LOC130006590, LOC130006591, LOC130006592, LOC130006593, LOC130006594, LOC130006595, LOC130006596, LOC130006597, LOC130006598, LOC130006599, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, LOC130006622, LOC130006623, LOC130006624, LOC130006625, LOC130006626, LOC130006627, LOC130006628, LOC130006629, LOC130006630, LOC130006631, LOC130006632, LOC130006633, LOC130006634, LOC130006635, LOC130006636, LOC130006637, LOC130006638, LOC130006639, LOC130006640, LOC130006641, LOC130006642, LOC130006643, LOC130006644, LOC130006645, LOC130006646, LOC130006647, LOC130006648, LOC130006649, LOC130006650, LOC130006651, LOC130006652, LOC130006653, LOC130006654, LOC130006655, LOC130006656, LOC130006657, LOC130006658, LOC130006659, LOC130006660, LOC130006661, LOC130006662, LOC130006663, LOC130006664, LOC130006665, LOC130006666, LOC130006667, LOC130006668, LOC130006669, LOC130006670, LOC130006671, LOC130006672, LOC130006673, LOC130006674, LOC130006675, LOC130006676, LOC130006677, LOC130006678, LOC130006679, LOC130006680, LOC130006681, LOC130006682, LOC130006683, LOC130006684, LOC130006685, LOC130006686, LOC130006687, LOC130006688, LOC130006689, LOC130006690, LOC130006691, LOC130006692, LOC130006693, LOC130006694, LOC130006695, LOC130006696, LOC130006697, LOC130006698, LOC130006699, LOC130006700, LOC130006701, LOC130006702, LOC130006703, LOC130006704, LOC130006705, LOC130006706, LOC130006707, LOC130006708, LOC130006709, LOC130006710, LOC130006711, LOC130006712, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089945, LOC132089946, LOC132089947, LOC132089948, LOC132089949, LOC132089950, LOC132089951, LOC132089952, LOC132089953, LOC132089954, LOC132089955, LOC132089956, LOC132090839, LOC132090840, MAML2, MED17, MIR1260B, MIR1304, MIR3920, MIR4693, MIR548L, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, MTNR1B, NPAT, PANX1, PDGFD, PDGFDDN, PGR, PGR-AS1, PIWIL4, PIWIL4-AS1, POGLUT3, RAB39A, SCARNA9, SESN3, SLC35F2, SLC36A4, SLN, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA8, SNORD13I, SNORD5, SNORD6, SRSF8, TAF1D, TMEM123, TMEM123-DT, TMEM133, TRPC6, VSTM5, YAP1 | | See cases | Pathogenic (Jan 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr11:94057448-95814830
- GRCh38:
- Chr11:94324282-96081666
| AMOTL1, ANKRD49, C11orf97, CEP57, CWC15, ENDOD1, FAM76B, FUT4, GPR83, KDM4D, KDM4E, KDM4F, LINC02700, LNCRNA-IUR, LOC100129203, LOC112136097, LOC114827859, LOC116225301, LOC121392935, LOC124544583, LOC124625821, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC129390332, LOC129390333, LOC129390334, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, MAML2, MIR548L, MRE11, MTMR2, PIWIL4, PIWIL4-AS1, SESN3, SRSF8 | | See cases | Uncertain significance (Sep 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:95523865
- GRCh38:
- Chr11:95790701
| CEP57, LOC130006618 | M1I | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523866
- GRCh38:
- Chr11:95790702
| CEP57, LOC130006618 | A2T | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523870
- GRCh38:
- Chr11:95790706
| CEP57, LOC130006618 | A3V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523873
- GRCh38:
- Chr11:95790709
| CEP57, LOC130006618 | A4G | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523877
- GRCh38:
- Chr11:95790713
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523879-95523880
- GRCh38:
- Chr11:95790715-95790716
| CEP57, LOC130006618 | S7fs | Mosaic variegated aneuploidy syndrome 2 | Pathogenic (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523880
- GRCh38:
- Chr11:95790716
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523883
- GRCh38:
- Chr11:95790719
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523885
- GRCh38:
- Chr11:95790721
| CEP57, LOC130006618 | A8V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523887
- GRCh38:
- Chr11:95790723
| CEP57, LOC130006618 | A9T | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523888
- GRCh38:
- Chr11:95790724
| CEP57, LOC130006618 | A9V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523891
- GRCh38:
- Chr11:95790727
| CEP57, LOC130006618 | S10F | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523893
- GRCh38:
- Chr11:95790729
| CEP57, LOC130006618 | G11R | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523894
- GRCh38:
- Chr11:95790730
| CEP57, LOC130006618 | G11V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523895
- GRCh38:
- Chr11:95790731
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523897
- GRCh38:
- Chr11:95790733
| CEP57, LOC130006618 | S12F | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523898
- GRCh38:
- Chr11:95790734
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523899
- GRCh38:
- Chr11:95790735
| CEP57, LOC130006618 | H13Y | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523901
- GRCh38:
- Chr11:95790737
| CEP57, LOC130006618 | H13Q | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523904
- GRCh38:
- Chr11:95790740
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523906
- GRCh38:
- Chr11:95790742
| CEP57, LOC130006618 | S15L | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523909-95523910
- GRCh38:
- Chr11:95790745-95790746
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523912
- GRCh38:
- Chr11:95790748
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523923
- GRCh38:
- Chr11:95790759
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95523924
- GRCh38:
- Chr11:95790760
| CEP57, LOC130006618 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95528723
- GRCh38:
- Chr11:95795559
| CEP57 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532383-95532384
- GRCh38:
- Chr11:95799219-95799220
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532385
- GRCh38:
- Chr11:95799221
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532386
- GRCh38:
- Chr11:95799222
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jan 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532387
- GRCh38:
- Chr11:95799223
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Nov 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532387
- GRCh38:
- Chr11:95799223
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Oct 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532388
- GRCh38:
- Chr11:95799224
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532394
- GRCh38:
- Chr11:95799230
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely pathogenic (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532398
- GRCh38:
- Chr11:95799234
| CEP57 | N16K, N7K | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532398
- GRCh38:
- Chr11:95799234
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Sep 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532400
- GRCh38:
- Chr11:95799236
| CEP57 | S17T, S8T | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532401
- GRCh38:
- Chr11:95799237
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532406
- GRCh38:
- Chr11:95799242
| CEP57 | A10G, A19G | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532407
- GRCh38:
- Chr11:95799243
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532413
- GRCh38:
- Chr11:95799249
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Apr 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532415
- GRCh38:
- Chr11:95799251
| CEP57 | S22L, S13L | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532419
- GRCh38:
- Chr11:95799255
| CEP57 | R14S, R23S | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532424
- GRCh38:
- Chr11:95799260
| CEP57 | N25I, N16I | Inborn genetic diseases | Uncertain significance (May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532425
- GRCh38:
- Chr11:95799261
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Sep 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532436
- GRCh38:
- Chr11:95799272
| CEP57 | V2G, V20G, V29G | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532438
- GRCh38:
- Chr11:95799274
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532438
- GRCh38:
- Chr11:95799274
| CEP57 | R30W, R3W, R21W | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95532439
- GRCh38:
- Chr11:95799275
| CEP57 | R30Q, R21Q, R3Q | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532439
- GRCh38:
- Chr11:95799275
| CEP57 | R30P, R3P, R21P | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Feb 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532440
- GRCh38:
- Chr11:95799276
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532445
- GRCh38:
- Chr11:95799281
| CEP57 | S32F, S23F, S5F | Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 2 | Conflicting interpretations of pathogenicity (Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:95532448
- GRCh38:
- Chr11:95799284
| CEP57 | S33L, S24L, S6L | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532450
- GRCh38:
- Chr11:95799286
| CEP57 | S25P, S34P, S7P | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95532461
- GRCh38:
- Chr11:95799297
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Aug 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532472
- GRCh38:
- Chr11:95799308
| CEP57 | S41L, S14L, S32L | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532473
- GRCh38:
- Chr11:95799309
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532481
- GRCh38:
- Chr11:95799317
| CEP57 | P17L, P44L, P35L | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532482
- GRCh38:
- Chr11:95799318
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532488
- GRCh38:
- Chr11:95799324
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jan 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532492
- GRCh38:
- Chr11:95799328
| CEP57 | S21C, S39C, S48C | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Mar 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532494
- GRCh38:
- Chr11:95799330
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532495
- GRCh38:
- Chr11:95799331
| CEP57 | D22N, D40N, D49N | Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Mar 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95532498
- GRCh38:
- Chr11:95799334
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532500
- GRCh38:
- Chr11:95799336
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532502
- GRCh38:
- Chr11:95799338
| CEP57 | R51Q, R42Q, R24Q | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532504
- GRCh38:
- Chr11:95799340
| CEP57 | R25C, R43C, R52C | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95532505
- GRCh38:
- Chr11:95799341
| CEP57 | R52H, R25H, R43H | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532513
- GRCh38:
- Chr11:95799349
| CEP57 | S46G, S55G, S28G | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532520
- GRCh38:
- Chr11:95799356
| CEP57 | P57R, P30R, P48R | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532524
- GRCh38:
- Chr11:95799360
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Oct 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532535
- GRCh38:
- Chr11:95799371
| CEP57 | P53L, P35L, P62L | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532541
- GRCh38:
- Chr11:95799377
| CEP57 | S37N, S55N, S64N | Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases | Uncertain significance (Nov 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95532558
- GRCh38:
- Chr11:95799394
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95532568
- GRCh38:
- Chr11:95799404
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546081
- GRCh38:
- Chr11:95812917
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546098
- GRCh38:
- Chr11:95812934
| CEP57 | I42V, I60V, I69V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546108
- GRCh38:
- Chr11:95812944
| CEP57 | A45V, A63V, A72V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546110
- GRCh38:
- Chr11:95812946
| CEP57 | L46F, L64F, L73F | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546119
- GRCh38:
- Chr11:95812955
| CEP57 | L49V, L76V, L67V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546126
- GRCh38:
- Chr11:95812962
| CEP57 | D51G, D69G, D78G | Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases | Uncertain significance (Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95546134
- GRCh38:
- Chr11:95812970
| CEP57 | R81*, R72*, R54* | Mosaic variegated aneuploidy syndrome 2 | Pathogenic (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546135
- GRCh38:
- Chr11:95812971
| CEP57 | R81Q, R54Q, R72Q | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546137
- GRCh38:
- Chr11:95812973
| CEP57 | R73C, R55C, R82C | not provided, Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Nov 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:95546138
- GRCh38:
- Chr11:95812974
| CEP57 | R55H, R73H, R82H | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546140
- GRCh38:
- Chr11:95812976
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546142
- GRCh38:
- Chr11:95812978
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546149
- GRCh38:
- Chr11:95812985
| CEP57 | E59Q, E77Q, E86Q | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546151
- GRCh38:
- Chr11:95812987
| CEP57 | E77D, E86D, E59D | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546156
- GRCh38:
- Chr11:95812992
| CEP57 | I61T, I79T, I88T | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546167
- GRCh38:
- Chr11:95813003
| CEP57 | E83K, E65K, E92K | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546185
- GRCh38:
- Chr11:95813021
| CEP57 | S71P, S98P, S89P | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546190
- GRCh38:
- Chr11:95813026
| CEP57 | R90S, R99S, R72S | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546196
- GRCh38:
- Chr11:95813032
| CEP57 | | Mosaic variegated aneuploidy syndrome 2 | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546197
- GRCh38:
- Chr11:95813033
| CEP57 | I102V, I75V, I93V | Mosaic variegated aneuploidy syndrome 2 | Uncertain significance (May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:95546226
- GRCh38:
- Chr11:95813062
| CEP57 | Q111H, Q102H, Q84H | Mosaic variegated aneuploidy syndrome 2, not provided | Benign/Likely benign (Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |