| - 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:
- Chr11:90819827-109466308
- 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:
- Chr11:98228629-105929873
- 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 cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr11:101323715-103914833
- GRCh38:
- Chr11:101452984-104044105
| ANGPTL5, BIRC2, BIRC3, CEP126, CFAP300, DCUN1D5, DDI1, DYNC2H1, LOC102723838, LOC121392936, LOC121832819, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC129390348, LOC129390349, 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, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132090840, MIR3920, MIR4693, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, PDGFD, PDGFDDN, TMEM123, TMEM123-DT, TRPC6, YAP1 | | See cases | Pathogenic (Oct 14, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr11:102949000-103701092
- GRCh38:
- Chr11:103078271-103830364
| DCUN1D5, DYNC2H1, LOC126861319, LOC129390348, LOC130006660, LOC130006661, LOC130006662, LOC130006663 | | See cases | Uncertain significance (Oct 22, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:102956957-103695043
- GRCh38:
- Chr11:103086228-103824315
| DCUN1D5, DYNC2H1, LOC126861319, LOC129390348, LOC130006660, LOC130006661, LOC130006662, LOC130006663 | | See cases | Uncertain significance (Apr 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:102980156
- GRCh38:
- Chr11:103109427
| DYNC2H1 | | Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980210
- GRCh38:
- Chr11:103109481
| DYNC2H1 | | Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 3
| Benign/Likely benign (Jun 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102980264
- GRCh38:
- Chr11:103109535
| DYNC2H1 | | not specified | Likely benign (Jan 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980271
- GRCh38:
- Chr11:103109542
| DYNC2H1 | | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980304
- GRCh38:
- Chr11:103109575
| DYNC2H1 | M1V | Jeune thoracic dystrophy | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980305
- GRCh38:
- Chr11:103109576
| DYNC2H1 | M1T | Asphyxiating thoracic dystrophy 3 | Pathogenic (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980305
- GRCh38:
- Chr11:103109576
| DYNC2H1 | M1fs | Jeune thoracic dystrophy | Uncertain significance (Nov 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980312
- GRCh38:
- Chr11:103109583
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jun 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980324
- GRCh38:
- Chr11:103109595
| DYNC2H1 | | Jeune thoracic dystrophy, not specified, Asphyxiating thoracic dystrophy 3
| Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102980330
- GRCh38:
- Chr11:103109601
| DYNC2H1 | | not provided, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
| Benign (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102980336
- GRCh38:
- Chr11:103109607
| DYNC2H1 | | Short rib-polydactyly syndrome, Jeune thoracic dystrophy, not provided, Asphyxiating thoracic dystrophy 3 | Conflicting interpretations of pathogenicity (Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102980338
- GRCh38:
- Chr11:103109609
| DYNC2H1 | F12C | Inborn genetic diseases, Jeune thoracic dystrophy | Uncertain significance (Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102980346
- GRCh38:
- Chr11:103109617
| DYNC2H1 | T15S | Jeune thoracic dystrophy | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980357
- GRCh38:
- Chr11:103109628
| DYNC2H1 | Q18H | Jeune thoracic dystrophy | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980364
- GRCh38:
- Chr11:103109635
| DYNC2H1 | F21V | Asphyxiating thoracic dystrophy 3 | Uncertain significance (Feb 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980367
- GRCh38:
- Chr11:103109638
| DYNC2H1 | G22R | not provided | Likely benign (May 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980375
- GRCh38:
- Chr11:103109646
| DYNC2H1 | M24I | Jeune thoracic dystrophy | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980407
- GRCh38:
- Chr11:103109678
| DYNC2H1 | N35S | Inborn genetic diseases | Uncertain significance (Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980429
- GRCh38:
- Chr11:103109700
| DYNC2H1 | F42L | Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980466
- GRCh38:
- Chr11:103109737
| DYNC2H1 | | not provided | Likely benign (Jul 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980476
- GRCh38:
- Chr11:103109747
| DYNC2H1 | A58G | Jeune thoracic dystrophy | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980486
- GRCh38:
- Chr11:103109757
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980495
- GRCh38:
- Chr11:103109766
| DYNC2H1 | N64K | Jeune thoracic dystrophy | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980496
- GRCh38:
- Chr11:103109767
| DYNC2H1 | T65P | Asphyxiating thoracic dystrophy 3 | Pathogenic/Likely pathogenic (Jun 1, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:102980498
- GRCh38:
- Chr11:103109769
| DYNC2H1 | | Asphyxiating thoracic dystrophy 3 | Pathogenic/Likely pathogenic (Jun 1, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:102980503
- GRCh38:
- Chr11:103109774
| DYNC2H1 | | Jeune thoracic dystrophy | Uncertain significance (Oct 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980505
- GRCh38:
- Chr11:103109776
| DYNC2H1 | | not 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 |
| - GRCh37:
- Chr11:102980517
- GRCh38:
- Chr11:103109788
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102980594
- GRCh38:
- Chr11:103109865
| DYNC2H1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102983984
- GRCh38:
- Chr11:103113255
| DYNC2H1 | | not provided | Likely benign (Jul 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984006
- GRCh38:
- Chr11:103113277
| DYNC2H1 | | not provided | Likely benign (Sep 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984253
- GRCh38:
- Chr11:103113524
| DYNC2H1 | | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984260
- GRCh38:
- Chr11:103113531
| DYNC2H1 | | Jeune thoracic dystrophy | Uncertain significance (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984281
- GRCh38:
- Chr11:103113552
| DYNC2H1 | T71P | Inborn genetic diseases | Uncertain significance (Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984286
- GRCh38:
- Chr11:103113557
| DYNC2H1 | K72N | Jeune thoracic dystrophy | Uncertain significance (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984314
- GRCh38:
- Chr11:103113585
| DYNC2H1 | R82* | not provided, Asphyxiating thoracic dystrophy 3 | Pathogenic/Likely pathogenic (Sep 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102984324
- GRCh38:
- Chr11:103113595
| DYNC2H1 | V85E | Jeune thoracic dystrophy | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984336
- GRCh38:
- Chr11:103113607
| DYNC2H1 | E89G | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984339
- GRCh38:
- Chr11:103113610
| DYNC2H1 | N90S | Jeune thoracic dystrophy | Uncertain significance (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984352
- GRCh38:
- Chr11:103113623
| DYNC2H1 | N94K | Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984361
- GRCh38:
- Chr11:103113632
| DYNC2H1 | | not provided, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
| Conflicting interpretations of pathogenicity (Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102984387
- GRCh38:
- Chr11:103113658
| DYNC2H1 | S106N | not provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases, Jeune thoracic dystrophy | Conflicting interpretations of pathogenicity (May 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102984397
- GRCh38:
- Chr11:103113668
| DYNC2H1 | Y109* | not provided | Pathogenic (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984407
- GRCh38:
- Chr11:103113678
| DYNC2H1 | R113W | Short rib-polydactyly syndrome, not specified, Asphyxiating thoracic dystrophy 3
| Uncertain significance (May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102984413
- GRCh38:
- Chr11:103113684
| DYNC2H1 | V115I | Inborn genetic diseases | Uncertain significance (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984417
- GRCh38:
- Chr11:103113688
| DYNC2H1 | F116S | Jeune thoracic dystrophy | Uncertain significance (Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984418
- GRCh38:
- Chr11:103113689
| DYNC2H1 | | not specified, Jeune thoracic dystrophy | Likely benign (Feb 10, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102984435
- GRCh38:
- Chr11:103113706
| DYNC2H1 | K122T | Jeune thoracic dystrophy | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984446
- GRCh38:
- Chr11:103113717
| DYNC2H1 | | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Conflicting interpretations of pathogenicity (Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102984448
- GRCh38:
- Chr11:103113719
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984452
- GRCh38:
- Chr11:103113723
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984455
- GRCh38:
- Chr11:103113726
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984455-102984456
- GRCh38:
- Chr11:103113726-103113727
| DYNC2H1 | | Jeune thoracic dystrophy | Benign (Jul 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984456
- GRCh38:
- Chr11:103113727
| DYNC2H1 | | Jeune thoracic dystrophy | Benign (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984458
- GRCh38:
- Chr11:103113729
| DYNC2H1 | | not provided | Likely benign (Aug 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984696
- GRCh38:
- Chr11:103113967
| DYNC2H1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984799
- GRCh38:
- Chr11:103114070
| DYNC2H1 | | not provided | Benign (Sep 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984830
- GRCh38:
- Chr11:103114101
| DYNC2H1 | | Jeune thoracic dystrophy | Likely pathogenic (Sep 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984856
- GRCh38:
- Chr11:103114127
| DYNC2H1 | D131H | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Uncertain significance (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102984873
- GRCh38:
- Chr11:103114144
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984904
- GRCh38:
- Chr11:103114175
| DYNC2H1 | I147V | Jeune thoracic dystrophy | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984914
- GRCh38:
- Chr11:103114185
| DYNC2H1 | R150Q | Inborn genetic diseases | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984921
- GRCh38:
- Chr11:103114192
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984924
- GRCh38:
- Chr11:103114195
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984928
- GRCh38:
- Chr11:103114199
| DYNC2H1 | N155H | Jeune thoracic dystrophy | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984931
- GRCh38:
- Chr11:103114202
| DYNC2H1 | L156I | Jeune thoracic dystrophy | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984941
- GRCh38:
- Chr11:103114212
| DYNC2H1 | L159S | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Conflicting interpretations of pathogenicity (Jul 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102984954
- GRCh38:
- Chr11:103114225
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984961
- GRCh38:
- Chr11:103114232
| DYNC2H1 | T166A | Jeune thoracic dystrophy | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984964
- GRCh38:
- Chr11:103114235
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102984964
- GRCh38:
- Chr11:103114235
| DYNC2H1 | R167* | Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy | Pathogenic/Likely pathogenic (Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:102984965
- GRCh38:
- Chr11:103114236
| DYNC2H1 | R167Q | Jeune thoracic dystrophy | Uncertain significance (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985018
- GRCh38:
- Chr11:103114289
| DYNC2H1 | | not provided | Benign (Jun 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985673
- GRCh38:
- Chr11:103114944
| DYNC2H1 | | not provided | Likely benign (Jan 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985708
- GRCh38:
- Chr11:103114979
| DYNC2H1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985888
- GRCh38:
- Chr11:103115159
| DYNC2H1 | | not specified | Likely benign (Aug 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985903
- GRCh38:
- Chr11:103115174
| DYNC2H1 | | Jeune thoracic dystrophy | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985906
- GRCh38:
- Chr11:103115177
| DYNC2H1 | G168D | Jeune thoracic dystrophy | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985920
- GRCh38:
- Chr11:103115191
| DYNC2H1 | S173C | Jeune thoracic dystrophy | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985922
- GRCh38:
- Chr11:103115193
| DYNC2H1 | | not provided | Likely benign (May 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985939
- GRCh38:
- Chr11:103115210
| DYNC2H1 | W179* | Asphyxiating thoracic dystrophy 3 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:102985942
- GRCh38:
- Chr11:103115213
| DYNC2H1 | I180T | Short rib-polydactyly syndrome, Asphyxiating thoracic dystrophy 3 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985947
- GRCh38:
- Chr11:103115218
| DYNC2H1 | Q182E | Jeune thoracic dystrophy | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985957
- GRCh38:
- Chr11:103115228
| DYNC2H1 | R185H | not provided, Asphyxiating thoracic dystrophy 3, Inborn genetic diseases, Jeune thoracic dystrophy | Conflicting interpretations of pathogenicity (May 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102985967
- GRCh38:
- Chr11:103115238
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985973
- GRCh38:
- Chr11:103115244
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Jul 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102985988
- GRCh38:
- Chr11:103115259
| DYNC2H1 | | Jeune thoracic dystrophy | Likely benign (Apr 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102986052
- GRCh38:
- Chr11:103115323
| DYNC2H1 | | not provided | Benign (Sep 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102986259
- GRCh38:
- Chr11:103115530
| DYNC2H1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102987299
- GRCh38:
- Chr11:103116570
| DYNC2H1 | E208K | Jeune thoracic dystrophy | Uncertain significance (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:102987301-102987302
- GRCh38:
- Chr11:103116572-103116573
| DYNC2H1 | F209I | Jeune thoracic dystrophy | Conflicting interpretations of pathogenicity (Sep 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:102987302
- GRCh38:
- Chr11:103116573
| DYNC2H1 | F209I | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 | Pathogenic/Likely pathogenic (Jun 1, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr11:102987302-102987303
- GRCh38:
- Chr11:103116573-103116574
| DYNC2H1 | | Asphyxiating thoracic dystrophy 3 | Pathogenic (May 1, 2009) | no assertion criteria provided |