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Items: 1 to 100 of 1963

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
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
3.
GRCh37:
Chr11:98228629-105929873
GRCh38:
Chr11:98357901-106059146
ANGPTL5, ARHGAP42, ARHGAP42-AS1, BIRC2, BIRC3, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CEP126, CFAP300, CNTN5, DCUN1D5, DDI1, DYNC2H1, GRIA4, KBTBD3, LINC02552, LOC102723838, LOC111982889, LOC121392936, LOC121392937, LOC121832819, LOC124625824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC126861310, LOC126861311, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339, LOC129390340, LOC129390341, LOC129390342, LOC129390343, LOC129390344, LOC129390345, LOC129390346, LOC129390347, LOC129390348, LOC129390349, LOC129390350, 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, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089946, LOC132089947, LOC132089948, LOC132089949, LOC132089950, LOC132089951, LOC132089952, LOC132089953, LOC132089954, LOC132089955, LOC132089956, LOC132090839, LOC132090840, MIR3920, MIR4693, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MSANTD4, PDGFD, PDGFDDN, PGR, PGR-AS1, SNORD13I, TMEM123, TMEM123-DT, TMEM133, TRPC6, YAP1
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
4.
GRCh37:
Chr11:100219331-134910140
GRCh38:
Chr11:100348599-135040246
LOC130006930, LOC130006931, LOC130006932, LOC130006933, LOC130006934, LOC130006935, LOC130006936, LOC130006937, LOC130006938, LOC130006939, LOC130006940, LOC130006941, LOC130006942, LOC130006943, LOC130006944, LOC130006945, LOC130006946, LOC130006947, LOC130006948, LOC130006949, LOC130006950, LOC130006951, LOC130006952, LOC130006953, LOC130006954, LOC130006955, LOC130006956, LOC130006957, LOC130006958, LOC130006959, LOC130006960, LOC130006961, LOC130006962, LOC130006963, LOC130006964, LOC130006965, LOC130006966, LOC130006967, LOC130006968, LOC130006969, LOC130006970, LOC130006971, LOC130006972, LOC130006973, LOC130006974, LOC130006975, LOC130006976, LOC130006977, LOC130006978, LOC130006979, LOC130006980, LOC130006981, LOC130006982, LOC130006983, LOC130006984, LOC130006985, LOC130006986, LOC130006987, LOC130006988, LOC130006989, LOC130006990, LOC130006991, LOC130006992, LOC130006993, LOC130006994, LOC130006995, LOC130006996, LOC130006997, LOC130006998, LOC130006999, LOC130007000, LOC130007001, LOC130007002, LOC130007003, LOC130007004, LOC130007005, LOC130007006, LOC130007007, LOC130007008, LOC130007009, LOC130007010, LOC130007011, LOC130007012, LOC130007013, LOC130007014, LOC130007015, LOC130007016, LOC130007017, LOC130007018, LOC130007019, LOC130007020, LOC130007021, LOC130007022, LOC130007023, LOC130007024, LOC130007025, LOC130007026, LOC130007027, LOC130007028, LOC130007029, LOC130007030, LOC130007031, LOC130007032, LOC130007033, LOC130007034, LOC130007035, LOC130007036, LOC130007037, LOC130007038, LOC130007039, LOC130007040, LOC130007041, LOC130007042, LOC130007043, LOC130007044, LOC130007045, LOC130007046, LOC130007047, LOC130007048, LOC130007049, LOC130007050, LOC130007051, LOC130007052, LOC130007053, LOC130007054, LOC130007055, LOC130007056, LOC130007057, LOC130007058, LOC130007059, LOC130007060, LOC130007061, LOC130007062, LOC130007063, LOC130007064, LOC130007065, LOC130007066, LOC130007067, LOC130007068, LOC130007069, LOC130007070, LOC130007071, LOC130007072, LOC130007073, LOC130007074, LOC130007075, LOC130007076, LOC130007077, LOC130007078, LOC130007079, LOC130007080, LOC130007081, LOC130007082, LOC130007083, LOC130007084, LOC130007085, LOC130007086, LOC130007087, LOC130007088, LOC130007089, LOC130007090, LOC130007091, LOC130007092, LOC130007093, LOC130007094, LOC130007095, LOC130007096, LOC130007097, LOC130007098, LOC130007099, LOC130007100, LOC130007101, LOC130007102, LOC130007103, LOC130007104, LOC130007105, LOC130007106, LOC130007107, LOC130007108, LOC130007109, LOC130007110, LOC130007111, LOC130007112, LOC130007113, LOC130007114, LOC130007115, LOC130007116, LOC130007117, LOC130007118, LOC130007119, LOC130007120, LOC130007121, LOC130007122, LOC130007123, LOC130007124, LOC130007125, LOC130007126, LOC130007127, LOC130007128, LOC130007129, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089893, LOC132089894, LOC132089895, LOC132089896, LOC132089900, LOC132089901, LOC132089902, LOC132089903, LOC132089904, LOC132089905, LOC132089906, LOC132089907, LOC132089908, LOC132090840, LOC132090841, LOC132090842, LOC132211105, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR34B, MIR34BHG, MIR34C, MIR3920, MIR4301, MIR4491, MIR4492, MIR4493, MIR4693, MIR4697, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, MSANTD4, NCAM1, NCAM1-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NPAT, NRGN, NTM, NTM-AS1, NTM-IT, NXPE1, NXPE2, NXPE4, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDGFD, PDGFDDN, PGR, PGR-AS1, PHLDB1, PIH1D2, PKNOX2, PKNOX2-AS1, PKNOX2-DT, PLET1, POGLUT3, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPP2R1B, PRDM10, PRDM10-DT, PTS, PUS3, RAB39A, RBM7, RDX, REXO2, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SLC35F2, SDHD, SENCR, SIAE, SIDT2, SIK2, SIK3, SLC37A2, SLC37A4, SLN, SMIM35, SNORD13I, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, TEX12, THY1, THYN1, TIMM8B, TIRAP, TIRAP-AS1, TLCD5, TMEM123, TMEM123-DT, TMEM133, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TRPC6, TTC12, TTC12-DT, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, USP28, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, YAP1, ZBTB16, ZBTB44, ZBTB44-DT, ZC3H12C, ZNF202, ZPR1, ZW10, LOC121832823, LOC121832824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124625831, LOC124625832, LOC124625833, LOC124625834, LOC124625835, LOC124625836, LOC124625837, LOC124625838, LOC124625839, LOC124625840, LOC124625841, LOC124625842, LOC124625843, LOC124625844, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC126861328, LOC126861329, LOC126861330, LOC126861331, LOC126861332, LOC126861333, LOC126861334, LOC126861335, LOC126861336, LOC126861337, LOC126861338, LOC126861339, LOC126861340, LOC126861341, LOC126861342, LOC126861343, LOC126861344, LOC126861345, LOC126861346, LOC126861347, LOC126861348, LOC126861349, LOC126861350, LOC126861351, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772354, LOC128772355, LOC128772356, LOC128772357, LOC128772358, LOC128772359, LOC128772360, LOC128772361, LOC128772362, LOC128772363, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC129390347, LOC129390348, LOC129390349, LOC129390350, LOC129390351, LOC129390352, LOC129390353, LOC129390354, LOC129390355, LOC129390356, LOC129390357, LOC129390358, LOC129390359, LOC129390360, LOC129390361, LOC129390362, LOC129390363, LOC129390364, LOC129390365, LOC129390366, LOC129390367, LOC129390368, LOC129390369, LOC129390370, LOC129390371, LOC129390372, LOC129390373, LOC129390374, LOC129390375, LOC129390376, LOC129390377, LOC129390378, LOC129390379, LOC129390380, LOC129390381, LOC129390382, LOC129390383, LOC129390384, 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, LOC130006713, LOC130006714, LOC130006715, LOC130006716, LOC130006717, LOC130006718, LOC130006719, LOC130006720, LOC130006721, LOC130006722, LOC130006723, LOC130006724, LOC130006725, LOC130006726, LOC130006727, LOC130006728, LOC130006729, LOC130006730, LOC130006731, LOC130006732, LOC130006733, LOC130006734, LOC130006735, LOC130006736, LOC130006737, LOC130006738, LOC130006739, LOC130006740, LOC130006741, LOC130006742, LOC130006743, LOC130006744, LOC130006745, LOC130006746, LOC130006747, LOC130006748, LOC130006749, LOC130006750, LOC130006751, LOC130006752, LOC130006753, LOC130006754, LOC130006755, LOC130006756, LOC130006757, LOC130006758, LOC130006759, LOC130006760, LOC130006761, LOC130006762, LOC130006763, LOC130006764, LOC130006765, LOC130006766, LOC130006767, LOC130006768, LOC130006769, LOC130006770, LOC130006771, LOC130006772, LOC130006773, LOC130006774, LOC130006775, LOC130006776, LOC130006777, LOC130006778, LOC130006779, LOC130006780, LOC130006781, LOC130006782, LOC130006783, LOC130006784, LOC130006785, LOC130006786, LOC130006787, LOC130006788, LOC130006789, LOC130006790, LOC130006791, LOC130006792, LOC130006793, LOC130006794, LOC130006795, LOC130006796, LOC130006797, LOC130006798, LOC130006799, LOC130006800, LOC130006801, LOC130006802, LOC130006803, LOC130006804, LOC130006805, LOC130006806, LOC130006807, LOC130006808, LOC130006809, LOC130006810, LOC130006811, LOC130006812, LOC130006813, LOC130006814, LOC130006815, LOC130006816, LOC130006817, LOC130006818, LOC130006819, LOC130006820, LOC130006821, LOC130006822, LOC130006823, LOC130006824, LOC130006825, LOC130006826, LOC130006827, LOC130006828, LOC130006829, LOC130006830, LOC130006831, LOC130006832, LOC130006833, LOC130006834, LOC130006835, LOC130006836, LOC130006837, LOC130006838, LOC130006839, LOC130006840, LOC130006841, LOC130006842, LOC130006843, LOC130006844, LOC130006845, LOC130006846, LOC130006847, LOC130006848, LOC130006849, LOC130006850, LOC130006851, LOC130006852, LOC130006853, LOC130006854, LOC130006855, LOC130006856, LOC130006857, LOC130006858, LOC130006859, LOC130006860, LOC130006861, LOC130006862, LOC130006863, LOC130006864, LOC130006865, LOC130006866, LOC130006867, LOC130006868, LOC130006869, LOC130006870, LOC130006871, LOC130006872, LOC130006873, LOC130006874, LOC130006875, LOC130006876, LOC130006877, LOC130006878, LOC130006879, LOC130006880, LOC130006881, LOC130006882, LOC130006883, LOC130006884, LOC130006885, LOC130006886, LOC130006887, LOC130006888, LOC130006889, LOC130006890, LOC130006891, LOC130006892, LOC130006893, LOC130006894, LOC130006895, LOC130006896, LOC130006897, LOC130006898, LOC130006899, LOC130006900, LOC130006901, LOC130006902, LOC130006903, LOC130006904, LOC130006905, LOC130006906, LOC130006907, LOC130006908, LOC130006909, LOC130006910, LOC130006911, LOC130006912, LOC130006913, LOC130006914, LOC130006915, LOC130006916, LOC130006917, LOC130006918, LOC130006919, LOC130006920, LOC130006921, LOC130006922, LOC130006923, LOC130006924, LOC130006925, LOC130006926, LOC130006927, LOC130006928, LOC130006929, AASDHPPT, ABCG4, ACAD8, ACAT1, ACRV1, ADAMTS15, ADAMTS8, ALG9, ALKBH8, ANGPTL5, ANKK1, APLP2, APOA1, APOA1-AS, APOA4, APOA5, APOC3, ARCN1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGAP42-AS1, ARHGEF12, ATM, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BCO2, BIRC2, BIRC3, BLID, BSX, BTG4, BUD13, BUD13-DT, C11orf52, C11orf65, C11orf71, C11orf87, C1QTNF5, C2CD2L, CADM1, CADM1-AS1, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP126, CEP164, CFAP300, CFAP68, CHEK1, CLDN25, CLMP, CNTN5, COLCA1, CRTAM, CRYAB, CUL5, CWF19L2, CXCR5, DCPS, DCUN1D5, DDI1, DDX10, DDX25, DDX6, DIXDC1, DLAT, DPAGT1, DRD2, DSCAML1, DYNC2H1, EI24, ELMOD1, ESAM, ESAM-AS1, ETS1, ETS1-AS1, EXPH5, FAM118B, FDX1, FDXACB1, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIA4, GRIK4, GSEC, GUCY1A2, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HOATZ, HSPA8, HSPB2, HSPB2-C11orf52, HTR3A, HTR3B, HYLS1, HYOU1, HYOU1-AS1, IFT46, IGSF9B, IL10RA, IL18, JAM3, JAML, JHY, KBTBD3, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LAYN, LINC00900, LINC01395, LINC02098, LINC02151, LINC02550, LINC02551, LINC02552, LINC02697, LINC02702, LINC02703, LINC02706, LINC02712, LINC02714, LINC02715, LINC02719, LINC02725, LINC02727, LINC02730, LINC02731, LINC02732, LINC02743, LINC02744, LINC02762, LINC02763, LINC02764, LINC02873, LOC100131626, LOC100132078, LOC100132686, LOC100507548, LOC100652768, LOC101928535, LOC101928847, LOC101928940, LOC101928985, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC102723838, LOC105369509, LOC105369532, LOC105369535, LOC105369558, LOC106865368, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC108491825, LOC110120853, LOC110120944, LOC110121342, LOC110121415, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC111718489, LOC111982889, LOC111982891, LOC111982892, LOC111982893, LOC111982894, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC113939918, LOC113939919, LOC114803469, LOC116225302, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392936, LOC121392937, LOC121392938, LOC121392939, LOC121392940, LOC121392941, LOC121392942, LOC121392943, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832819, LOC121832820, LOC121832821, LOC121832822
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr11:101323715-103914833
GRCh38:
Chr11:101452984-104044105
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
6.
GRCh37:
Chr11:102949000-103701092
GRCh38:
Chr11:103078271-103830364
DCUN1D5, DYNC2H1, LOC126861319, LOC129390348, LOC130006660, LOC130006661, LOC130006662, LOC130006663See casesUncertain significance
(Oct 22, 2013)
no assertion criteria provided
7.
GRCh37:
Chr11:102956957-103695043
GRCh38:
Chr11:103086228-103824315
DCUN1D5, DYNC2H1, LOC126861319, LOC129390348, LOC130006660, LOC130006661, LOC130006662, LOC130006663See casesUncertain significance
(Apr 4, 2013)
no assertion criteria provided
8.
GRCh37:
Chr11:102980156
GRCh38:
Chr11:103109427
DYNC2H1Asphyxiating thoracic dystrophy 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr11:102980210
GRCh38:
Chr11:103109481
DYNC2H1Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 3
Benign/Likely benign
(Jun 26, 2018)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:102980264
GRCh38:
Chr11:103109535
DYNC2H1not specifiedLikely benign
(Jan 4, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr11:102980271
GRCh38:
Chr11:103109542
DYNC2H1Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr11:102980304
GRCh38:
Chr11:103109575
DYNC2H1M1VJeune thoracic dystrophyUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:102980305
GRCh38:
Chr11:103109576
DYNC2H1M1TAsphyxiating thoracic dystrophy 3Pathogenic
(Apr 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:102980305
GRCh38:
Chr11:103109576
DYNC2H1M1fsJeune thoracic dystrophyUncertain significance
(Nov 6, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr11:102980312
GRCh38:
Chr11:103109583
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jun 8, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr11:102980324
GRCh38:
Chr11:103109595
DYNC2H1Jeune thoracic dystrophy, not specified, Asphyxiating thoracic dystrophy 3
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:102980330
GRCh38:
Chr11:103109601
DYNC2H1not provided, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr11:102980336
GRCh38:
Chr11:103109607
DYNC2H1Short rib-polydactyly syndrome, Jeune thoracic dystrophy, not provided,
Asphyxiating thoracic dystrophy 3
Conflicting interpretations of pathogenicity
(Jul 5, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr11:102980338
GRCh38:
Chr11:103109609
DYNC2H1F12CInborn genetic diseases, Jeune thoracic dystrophyUncertain significance
(Jul 28, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:102980346
GRCh38:
Chr11:103109617
DYNC2H1T15SJeune thoracic dystrophyUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr11:102980357
GRCh38:
Chr11:103109628
DYNC2H1Q18HJeune thoracic dystrophyUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr11:102980364
GRCh38:
Chr11:103109635
DYNC2H1F21VAsphyxiating thoracic dystrophy 3Uncertain significance
(Feb 12, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr11:102980367
GRCh38:
Chr11:103109638
DYNC2H1G22Rnot providedLikely benign
(May 2, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr11:102980375
GRCh38:
Chr11:103109646
DYNC2H1M24IJeune thoracic dystrophyUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:102980407
GRCh38:
Chr11:103109678
DYNC2H1N35SInborn genetic diseasesUncertain significance
(Jan 10, 2023)
criteria provided, single submitter
26.
GRCh37:
Chr11:102980429
GRCh38:
Chr11:103109700
DYNC2H1F42LAsphyxiating thoracic dystrophy 3Uncertain significance
(Jan 4, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr11:102980466
GRCh38:
Chr11:103109737
DYNC2H1not providedLikely benign
(Jul 16, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr11:102980476
GRCh38:
Chr11:103109747
DYNC2H1A58GJeune thoracic dystrophyUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:102980486
GRCh38:
Chr11:103109757
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jul 9, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr11:102980495
GRCh38:
Chr11:103109766
DYNC2H1N64KJeune thoracic dystrophyUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:102980496
GRCh38:
Chr11:103109767
DYNC2H1T65PAsphyxiating thoracic dystrophy 3Pathogenic/Likely pathogenic
(Jun 1, 2017)
no assertion criteria provided
32.
GRCh37:
Chr11:102980498
GRCh38:
Chr11:103109769
DYNC2H1Asphyxiating thoracic dystrophy 3Pathogenic/Likely pathogenic
(Jun 1, 2017)
no assertion criteria provided
33.
GRCh37:
Chr11:102980503
GRCh38:
Chr11:103109774
DYNC2H1Jeune thoracic dystrophyUncertain significance
(Oct 6, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr11:102980505
GRCh38:
Chr11:103109776
DYNC2H1not provided, Jeune thoracic dystrophy, not specified,
Short rib-polydactyly syndrome, Asphyxiating thoracic dystrophy 3
Conflicting interpretations of pathogenicity
(Oct 1, 2023)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr11:102980517
GRCh38:
Chr11:103109788
DYNC2H1Jeune thoracic dystrophyLikely benign
(Dec 16, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr11:102980594
GRCh38:
Chr11:103109865
DYNC2H1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr11:102983984
GRCh38:
Chr11:103113255
DYNC2H1not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr11:102984006
GRCh38:
Chr11:103113277
DYNC2H1not providedLikely benign
(Sep 1, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr11:102984253
GRCh38:
Chr11:103113524
DYNC2H1Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr11:102984260
GRCh38:
Chr11:103113531
DYNC2H1Jeune thoracic dystrophyUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:102984281
GRCh38:
Chr11:103113552
DYNC2H1T71PInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr11:102984286
GRCh38:
Chr11:103113557
DYNC2H1K72NJeune thoracic dystrophyUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:102984314
GRCh38:
Chr11:103113585
DYNC2H1R82*not provided, Asphyxiating thoracic dystrophy 3Pathogenic/Likely pathogenic
(Sep 21, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:102984324
GRCh38:
Chr11:103113595
DYNC2H1V85EJeune thoracic dystrophyUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:102984336
GRCh38:
Chr11:103113607
DYNC2H1E89GJeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr11:102984339
GRCh38:
Chr11:103113610
DYNC2H1N90SJeune thoracic dystrophyUncertain significance
(May 12, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:102984352
GRCh38:
Chr11:103113623
DYNC2H1N94KAsphyxiating thoracic dystrophy 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr11:102984361
GRCh38:
Chr11:103113632
DYNC2H1not provided, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Conflicting interpretations of pathogenicity
(Oct 1, 2023)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr11:102984387
GRCh38:
Chr11:103113658
DYNC2H1S106Nnot provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases,
Jeune thoracic dystrophy
Conflicting interpretations of pathogenicity
(May 18, 2023)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr11:102984397
GRCh38:
Chr11:103113668
DYNC2H1Y109*not providedPathogenic
(Apr 26, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:102984407
GRCh38:
Chr11:103113678
DYNC2H1R113WShort rib-polydactyly syndrome, not specified, Asphyxiating thoracic dystrophy 3
Uncertain significance
(May 30, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:102984413
GRCh38:
Chr11:103113684
DYNC2H1V115IInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr11:102984417
GRCh38:
Chr11:103113688
DYNC2H1F116SJeune thoracic dystrophyUncertain significance
(Aug 7, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr11:102984418
GRCh38:
Chr11:103113689
DYNC2H1not specified, Jeune thoracic dystrophyLikely benign
(Feb 10, 2020)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:102984435
GRCh38:
Chr11:103113706
DYNC2H1K122TJeune thoracic dystrophyUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:102984446
GRCh38:
Chr11:103113717
DYNC2H1Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Conflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr11:102984448
GRCh38:
Chr11:103113719
DYNC2H1Jeune thoracic dystrophyLikely benign
(Aug 14, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr11:102984452
GRCh38:
Chr11:103113723
DYNC2H1Jeune thoracic dystrophyLikely benign
(Feb 19, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:102984455
GRCh38:
Chr11:103113726
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:102984455-102984456
GRCh38:
Chr11:103113726-103113727
DYNC2H1Jeune thoracic dystrophyBenign
(Jul 8, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr11:102984456
GRCh38:
Chr11:103113727
DYNC2H1Jeune thoracic dystrophyBenign
(Sep 30, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:102984458
GRCh38:
Chr11:103113729
DYNC2H1not providedLikely benign
(Aug 17, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr11:102984696
GRCh38:
Chr11:103113967
DYNC2H1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr11:102984799
GRCh38:
Chr11:103114070
DYNC2H1not providedBenign
(Sep 1, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr11:102984830
GRCh38:
Chr11:103114101
DYNC2H1Jeune thoracic dystrophyLikely pathogenic
(Sep 19, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr11:102984856
GRCh38:
Chr11:103114127
DYNC2H1D131HJeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:102984873
GRCh38:
Chr11:103114144
DYNC2H1Jeune thoracic dystrophyLikely benign
(May 27, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:102984904
GRCh38:
Chr11:103114175
DYNC2H1I147VJeune thoracic dystrophyUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:102984914
GRCh38:
Chr11:103114185
DYNC2H1R150QInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr11:102984921
GRCh38:
Chr11:103114192
DYNC2H1Jeune thoracic dystrophyLikely benign
(Sep 12, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:102984924
GRCh38:
Chr11:103114195
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jan 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr11:102984928
GRCh38:
Chr11:103114199
DYNC2H1N155HJeune thoracic dystrophyUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr11:102984931
GRCh38:
Chr11:103114202
DYNC2H1L156IJeune thoracic dystrophyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr11:102984941
GRCh38:
Chr11:103114212
DYNC2H1L159SJeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Conflicting interpretations of pathogenicity
(Jul 11, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr11:102984954
GRCh38:
Chr11:103114225
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jul 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:102984961
GRCh38:
Chr11:103114232
DYNC2H1T166AJeune thoracic dystrophyUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:102984964
GRCh38:
Chr11:103114235
DYNC2H1Jeune thoracic dystrophyLikely benign
(Aug 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:102984964
GRCh38:
Chr11:103114235
DYNC2H1R167*Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophyPathogenic/Likely pathogenic
(Jan 3, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:102984965
GRCh38:
Chr11:103114236
DYNC2H1R167QJeune thoracic dystrophyUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:102985018
GRCh38:
Chr11:103114289
DYNC2H1not providedBenign
(Jun 25, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr11:102985673
GRCh38:
Chr11:103114944
DYNC2H1not providedLikely benign
(Jan 2, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr11:102985708
GRCh38:
Chr11:103114979
DYNC2H1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr11:102985888
GRCh38:
Chr11:103115159
DYNC2H1not specifiedLikely benign
(Aug 18, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr11:102985903
GRCh38:
Chr11:103115174
DYNC2H1Jeune thoracic dystrophyUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:102985906
GRCh38:
Chr11:103115177
DYNC2H1G168DJeune thoracic dystrophyUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:102985920
GRCh38:
Chr11:103115191
DYNC2H1S173CJeune thoracic dystrophyUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr11:102985922
GRCh38:
Chr11:103115193
DYNC2H1not providedLikely benign
(May 8, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr11:102985939
GRCh38:
Chr11:103115210
DYNC2H1W179*Asphyxiating thoracic dystrophy 3Pathogenicno assertion criteria provided
89.
GRCh37:
Chr11:102985942
GRCh38:
Chr11:103115213
DYNC2H1I180TShort rib-polydactyly syndrome, Asphyxiating thoracic dystrophy 3Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr11:102985947
GRCh38:
Chr11:103115218
DYNC2H1Q182EJeune thoracic dystrophyUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:102985957
GRCh38:
Chr11:103115228
DYNC2H1R185Hnot provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases,
Jeune thoracic dystrophy
Conflicting interpretations of pathogenicity
(May 8, 2023)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr11:102985967
GRCh38:
Chr11:103115238
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:102985973
GRCh38:
Chr11:103115244
DYNC2H1Jeune thoracic dystrophyLikely benign
(Jul 27, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr11:102985988
GRCh38:
Chr11:103115259
DYNC2H1Jeune thoracic dystrophyLikely benign
(Apr 10, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr11:102986052
GRCh38:
Chr11:103115323
DYNC2H1not providedBenign
(Sep 1, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr11:102986259
GRCh38:
Chr11:103115530
DYNC2H1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr11:102987299
GRCh38:
Chr11:103116570
DYNC2H1E208KJeune thoracic dystrophyUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr11:102987301-102987302
GRCh38:
Chr11:103116572-103116573
DYNC2H1F209IJeune thoracic dystrophyConflicting interpretations of pathogenicity
(Sep 26, 2021)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr11:102987302
GRCh38:
Chr11:103116573
DYNC2H1F209IJeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3Pathogenic/Likely pathogenic
(Jun 1, 2017)
no assertion criteria provided
100.
GRCh37:
Chr11:102987302-102987303
GRCh38:
Chr11:103116573-103116574
DYNC2H1Asphyxiating thoracic dystrophy 3Pathogenic
(May 1, 2009)
no assertion criteria provided
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