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Items: 1 to 100 of 402

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Jan 3, 2012)
no assertion criteria provided
5.
GRCh37:
Chr11:94057448-95814830
GRCh38:
Chr11:94324282-96081666
See casesUncertain significance
(Sep 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr11:95523865
GRCh38:
Chr11:95790701
CEP57, LOC130006618M1IMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jan 27, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:95523866
GRCh38:
Chr11:95790702
CEP57, LOC130006618A2TMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr11:95523870
GRCh38:
Chr11:95790706
CEP57, LOC130006618A3VMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 7, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr11:95523873
GRCh38:
Chr11:95790709
CEP57, LOC130006618A4GMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr11:95523877
GRCh38:
Chr11:95790713
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(May 20, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr11:95523879-95523880
GRCh38:
Chr11:95790715-95790716
CEP57, LOC130006618S7fsMosaic variegated aneuploidy syndrome 2Pathogenic
(Sep 7, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr11:95523880
GRCh38:
Chr11:95790716
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Aug 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:95523883
GRCh38:
Chr11:95790719
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Jun 23, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:95523885
GRCh38:
Chr11:95790721
CEP57, LOC130006618A8VMosaic variegated aneuploidy syndrome 2Uncertain significance
(May 19, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:95523887
GRCh38:
Chr11:95790723
CEP57, LOC130006618A9TMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:95523888
GRCh38:
Chr11:95790724
CEP57, LOC130006618A9VMosaic variegated aneuploidy syndrome 2Uncertain significance
(Mar 8, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:95523891
GRCh38:
Chr11:95790727
CEP57, LOC130006618S10FMosaic variegated aneuploidy syndrome 2Uncertain significance
(Nov 29, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr11:95523893
GRCh38:
Chr11:95790729
CEP57, LOC130006618G11RMosaic variegated aneuploidy syndrome 2Uncertain significance
(Oct 30, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:95523894
GRCh38:
Chr11:95790730
CEP57, LOC130006618G11VMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr11:95523895
GRCh38:
Chr11:95790731
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Jun 14, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:95523897
GRCh38:
Chr11:95790733
CEP57, LOC130006618S12FMosaic variegated aneuploidy syndrome 2Uncertain significance
(Feb 25, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:95523898
GRCh38:
Chr11:95790734
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Sep 20, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr11:95523899
GRCh38:
Chr11:95790735
CEP57, LOC130006618H13YMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr11:95523901
GRCh38:
Chr11:95790737
CEP57, LOC130006618H13QMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:95523904
GRCh38:
Chr11:95790740
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Jan 19, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:95523906
GRCh38:
Chr11:95790742
CEP57, LOC130006618S15LMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 14, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:95523909-95523910
GRCh38:
Chr11:95790745-95790746
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Uncertain significance
(Oct 3, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:95523912
GRCh38:
Chr11:95790748
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 6, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr11:95523923
GRCh38:
Chr11:95790759
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Sep 13, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:95523924
GRCh38:
Chr11:95790760
CEP57, LOC130006618Mosaic variegated aneuploidy syndrome 2Likely benign
(Jan 15, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:95528723
GRCh38:
Chr11:95795559
CEP57not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
32.
GRCh37:
Chr11:95532383-95532384
GRCh38:
Chr11:95799219-95799220
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Apr 4, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:95532385
GRCh38:
Chr11:95799221
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Mar 30, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr11:95532386
GRCh38:
Chr11:95799222
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Jan 28, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr11:95532387
GRCh38:
Chr11:95799223
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Nov 15, 2020)
criteria provided, single submitter
36.
GRCh37:
Chr11:95532387
GRCh38:
Chr11:95799223
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Oct 25, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:95532388
GRCh38:
Chr11:95799224
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Jul 29, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:95532394
GRCh38:
Chr11:95799230
CEP57Mosaic variegated aneuploidy syndrome 2Likely pathogenic
(Mar 10, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:95532398
GRCh38:
Chr11:95799234
CEP57N16K, N7KMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr11:95532398
GRCh38:
Chr11:95799234
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Sep 6, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr11:95532400
GRCh38:
Chr11:95799236
CEP57S17T, S8TMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr11:95532401
GRCh38:
Chr11:95799237
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Oct 5, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:95532406
GRCh38:
Chr11:95799242
CEP57A10G, A19GMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jan 14, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:95532407
GRCh38:
Chr11:95799243
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Mar 13, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:95532413
GRCh38:
Chr11:95799249
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Apr 16, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr11:95532415
GRCh38:
Chr11:95799251
CEP57S22L, S13LMosaic variegated aneuploidy syndrome 2Likely benign
(Aug 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:95532419
GRCh38:
Chr11:95799255
CEP57R14S, R23SMosaic variegated aneuploidy syndrome 2Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:95532424
GRCh38:
Chr11:95799260
CEP57N25I, N16IInborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr11:95532425
GRCh38:
Chr11:95799261
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Sep 30, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr11:95532436
GRCh38:
Chr11:95799272
CEP57V2G, V20G, V29GMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jun 19, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:95532438
GRCh38:
Chr11:95799274
CEP57Mosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr11:95532438
GRCh38:
Chr11:95799274
CEP57R30W, R3W, R21WMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:95532439
GRCh38:
Chr11:95799275
CEP57R30Q, R21Q, R3QMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:95532439
GRCh38:
Chr11:95799275
CEP57R30P, R3P, R21PMosaic variegated aneuploidy syndrome 2Uncertain significance
(Feb 3, 2020)
criteria provided, single submitter
55.
GRCh37:
Chr11:95532440
GRCh38:
Chr11:95799276
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Aug 16, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:95532445
GRCh38:
Chr11:95799281
CEP57S32F, S23F, S5FInborn genetic diseases, Mosaic variegated aneuploidy syndrome 2Conflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr11:95532448
GRCh38:
Chr11:95799284
CEP57S33L, S24L, S6LMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr11:95532450
GRCh38:
Chr11:95799286
CEP57S25P, S34P, S7PMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:95532461
GRCh38:
Chr11:95799297
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Aug 20, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr11:95532472
GRCh38:
Chr11:95799308
CEP57S41L, S14L, S32LMosaic variegated aneuploidy syndrome 2Uncertain significance
(Feb 9, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:95532473
GRCh38:
Chr11:95799309
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Oct 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:95532481
GRCh38:
Chr11:95799317
CEP57P17L, P44L, P35LMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr11:95532482
GRCh38:
Chr11:95799318
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Mar 6, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:95532488
GRCh38:
Chr11:95799324
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Jan 22, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr11:95532492
GRCh38:
Chr11:95799328
CEP57S21C, S39C, S48CMosaic variegated aneuploidy syndrome 2Uncertain significance
(Mar 31, 2020)
criteria provided, single submitter
66.
GRCh37:
Chr11:95532494
GRCh38:
Chr11:95799330
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Mar 7, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:95532495
GRCh38:
Chr11:95799331
CEP57D22N, D40N, D49NInborn genetic diseases, Mosaic variegated aneuploidy syndrome 2Uncertain significance
(Mar 6, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:95532498
GRCh38:
Chr11:95799334
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Jun 4, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:95532500
GRCh38:
Chr11:95799336
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Feb 12, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr11:95532502
GRCh38:
Chr11:95799338
CEP57R51Q, R42Q, R24QMosaic variegated aneuploidy syndrome 2Uncertain significance
(Oct 15, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:95532504
GRCh38:
Chr11:95799340
CEP57R25C, R43C, R52CMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:95532505
GRCh38:
Chr11:95799341
CEP57R52H, R25H, R43HMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:95532513
GRCh38:
Chr11:95799349
CEP57S46G, S55G, S28GMosaic variegated aneuploidy syndrome 2Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:95532520
GRCh38:
Chr11:95799356
CEP57P57R, P30R, P48RMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr11:95532524
GRCh38:
Chr11:95799360
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Oct 20, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr11:95532535
GRCh38:
Chr11:95799371
CEP57P53L, P35L, P62LMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr11:95532541
GRCh38:
Chr11:95799377
CEP57S37N, S55N, S64NMosaic variegated aneuploidy syndrome 2, Inborn genetic diseasesUncertain significance
(Nov 9, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:95532558
GRCh38:
Chr11:95799394
CEP57Mosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr11:95532568
GRCh38:
Chr11:95799404
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Sep 3, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:95546081
GRCh38:
Chr11:95812917
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Jul 9, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:95546098
GRCh38:
Chr11:95812934
CEP57I42V, I60V, I69VMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr11:95546108
GRCh38:
Chr11:95812944
CEP57A45V, A63V, A72VMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr11:95546110
GRCh38:
Chr11:95812946
CEP57L46F, L64F, L73FMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr11:95546119
GRCh38:
Chr11:95812955
CEP57L49V, L76V, L67VMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:95546126
GRCh38:
Chr11:95812962
CEP57D51G, D69G, D78GMosaic variegated aneuploidy syndrome 2, Inborn genetic diseasesUncertain significance
(Dec 3, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:95546134
GRCh38:
Chr11:95812970
CEP57R81*, R72*, R54*Mosaic variegated aneuploidy syndrome 2Pathogenic
(Aug 30, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:95546135
GRCh38:
Chr11:95812971
CEP57R81Q, R54Q, R72QMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr11:95546137
GRCh38:
Chr11:95812973
CEP57R73C, R55C, R82Cnot provided, Mosaic variegated aneuploidy syndrome 2Uncertain significance
(Nov 11, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:95546138
GRCh38:
Chr11:95812974
CEP57R55H, R73H, R82HMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 25, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr11:95546140
GRCh38:
Chr11:95812976
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Oct 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:95546142
GRCh38:
Chr11:95812978
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Apr 29, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:95546149
GRCh38:
Chr11:95812985
CEP57E59Q, E77Q, E86QMosaic variegated aneuploidy syndrome 2Uncertain significance
(May 15, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:95546151
GRCh38:
Chr11:95812987
CEP57E77D, E86D, E59DMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr11:95546156
GRCh38:
Chr11:95812992
CEP57I61T, I79T, I88TMosaic variegated aneuploidy syndrome 2Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr11:95546167
GRCh38:
Chr11:95813003
CEP57E83K, E65K, E92KMosaic variegated aneuploidy syndrome 2Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:95546185
GRCh38:
Chr11:95813021
CEP57S71P, S98P, S89PMosaic variegated aneuploidy syndrome 2Uncertain significance
(Jun 14, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:95546190
GRCh38:
Chr11:95813026
CEP57R90S, R99S, R72SMosaic variegated aneuploidy syndrome 2Uncertain significance
(May 3, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:95546196
GRCh38:
Chr11:95813032
CEP57Mosaic variegated aneuploidy syndrome 2Likely benign
(Jul 26, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:95546197
GRCh38:
Chr11:95813033
CEP57I102V, I75V, I93VMosaic variegated aneuploidy syndrome 2Uncertain significance
(May 11, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:95546226
GRCh38:
Chr11:95813062
CEP57Q111H, Q102H, Q84HMosaic variegated aneuploidy syndrome 2, not providedBenign/Likely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
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